# RGD-PIPELINE: ftp-file-extracts # MODULE: annotations-version-1.1.9 (Oct 10, 2019) # GENERATED-ON: 2025/03/15 # PURPOSE: annotations about active Chinchilla objects extracted from RGD database # ONTOLOGY: RDO: RGD Disease Ontology # CONTACT: rgd.data@mcw.edu # FORMAT: tab delimited text # NOTES: multiple values in a single column are separated by '|' # #COLUMN INFORMATION: # #1 RGD_ID unique RGD_ID of the annotated object #2 OBJECT_SYMBOL official symbol of the annotated object #3 OBJECT_NAME official name of the annotated object #4 OBJECT_TYPE annotated object data type: one of ['gene','qtl','strain'] #5 TERM_ACC_ID ontology term accession id #6 TERM_NAME ontology term name #7 QUALIFIER optional qualifier #8 EVIDENCE evidence #9 WITH with info #10 ASPECT aspect #11 REFERENCES db references (Reference RGDID|PUBMED ID) #12 CREATED_DATE created date #13 ASSIGNED_BY assigned by #14 MESH_OMIM_ID MESH:xxx or OMIM:xxx id corresponding to RDO:xxx id found in TERM_ACC_ID column (RGD/CTD Disease Ontology annotations only) #15 CURATION_NOTES curation notes provided by RGD curators #16 ORIGINAL_REFERENCE original reference RGD_ID OBJECT_SYMBOL OBJECT_NAME OBJECT_TYPE TERM_ACC_ID TERM_NAME QUALIFIER EVIDENCE WITH ASPECT REFERENCES CREATED_DATE ASSIGNED_BY MESH_OMIM_ID CURATION_NOTES ORIGINAL_REFERENCE 10061771 Jmjd7 jumonji domain containing 7 gene DOID:2717 Bloom syndrome ISO RGD:2298734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 10061771 Jmjd7 jumonji domain containing 7 gene DOID:9256 colorectal cancer ISO RGD:2298734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 10064458 Gas1 growth arrest specific 1 gene DOID:0110881 holoprosencephaly 1 ISO RGD:1345993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 1 PMID:20583177|PMID:21842183 10064458 Gas1 growth arrest specific 1 gene DOID:4621 holoprosencephaly ISO RGD:1345993 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17525797 10066165 Znf283 zinc finger protein 283 gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1354182 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 10066165 Znf283 zinc finger protein 283 gene DOID:5419 schizophrenia ISO RGD:1354182 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 10072529 Dock8-as1 DOCK8 antisense RNA 1 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1347775 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 10072529 Dock8-as1 DOCK8 antisense RNA 1 gene DOID:0080545 hyper IgE syndrome ISO RGD:1347775 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Autosomal recessive hyper-IgE syndrome | ClinVar Annotator: match by term: HIES autosomal recessive | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive | ClinVar Annotator: match by term: Hyper-IgE syndrome PMID:14722525|PMID:19776401|PMID:20226292|PMID:20622910|PMID:22476911|PMID:23380217|PMID:23859592|PMID:24797421|PMID:25640679|PMID:25724123|PMID:25741868|PMID:26680607|PMID:27980540|PMID:28492532|PMID:33290277 10072529 Dock8-as1 DOCK8 antisense RNA 1 gene DOID:0080594 hyper IgE recurrent infection syndrome 2 ISO RGD:1347775 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: DOCK8-related condition | ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: HYPER-IgE SYNDROME 2, AUTOSOMAL RECESSIVE, WITH RECURRENT INFECTIONS PMID:14722525|PMID:19776401|PMID:20226292|PMID:20622910|PMID:23859592|PMID:24797421|PMID:25640679|PMID:25724123|PMID:25741868|PMID:26680607|PMID:27980540|PMID:28492532|PMID:33290277 10072529 Dock8-as1 DOCK8 antisense RNA 1 gene DOID:5419 schizophrenia ISO RGD:1347775 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 10072529 Dock8-as1 DOCK8 antisense RNA 1 gene DOID:627 severe combined immunodeficiency ISO RGD:1347775 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease PMID:25724123|PMID:27891178|PMID:29930340|PMID:30697212|PMID:32888943 10072529 Dock8-as1 DOCK8 antisense RNA 1 gene DOID:630 genetic disease ISO RGD:1347775 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10076501 C1qtnf8 C1q and TNF related 8 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1345449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 10076501 C1qtnf8 C1q and TNF related 8 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1345449 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 10076501 C1qtnf8 C1q and TNF related 8 gene DOID:1826 epilepsy ISO RGD:1345449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 10076501 C1qtnf8 C1q and TNF related 8 gene DOID:9009315 Idiopathic Generalized Epilepsy ISO RGD:1345449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 10080999 Ndufa12 NADH:ubiquinone oxidoreductase subunit A12 gene DOID:0112087 nuclear type mitochondrial complex I deficiency 23 ISO RGD:1603389 D RGD:7240710 20190315 OMIM 10080999 Ndufa12 NADH:ubiquinone oxidoreductase subunit A12 gene DOID:0112087 nuclear type mitochondrial complex I deficiency 23 ISO RGD:1603389 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23 PMID:21617257|PMID:25741868|PMID:28454995|PMID:28492532|PMID:32341820|PMID:33715266|PMID:35141356 10080999 Ndufa12 NADH:ubiquinone oxidoreductase subunit A12 gene DOID:3652 Leigh disease ISO RGD:1603389 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:25741868|PMID:28492532|PMID:35141356 10080999 Ndufa12 NADH:ubiquinone oxidoreductase subunit A12 gene DOID:630 genetic disease ISO RGD:1603389 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10080999 Ndufa12 NADH:ubiquinone oxidoreductase subunit A12 gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1603389 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:25741868|PMID:35141356 10081585 Sprr4 small proline rich protein 4 gene DOID:0111940 immunodeficiency 42 ISO RGD:1350265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 10081585 Sprr4 small proline rich protein 4 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1350265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 10081585 Sprr4 small proline rich protein 4 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1350265 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 10081585 Sprr4 small proline rich protein 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1350265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 10081585 Sprr4 small proline rich protein 4 gene DOID:5812 MHC class II deficiency ISO RGD:1350265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 10081585 Sprr4 small proline rich protein 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1350265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 10082211 Cmc4 C-X9-C motif containing 4 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:2308876 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 10082211 Cmc4 C-X9-C motif containing 4 gene DOID:0050476 Barth syndrome ISO RGD:2308876 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 10082211 Cmc4 C-X9-C motif containing 4 gene DOID:0050800 cerebral creatine deficiency syndrome 1 ISO RGD:2308876 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 10082211 Cmc4 C-X9-C motif containing 4 gene DOID:0111823 autosomal hemophilia A ISO RGD:2308876 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A PMID:31690835 10082211 Cmc4 C-X9-C motif containing 4 gene DOID:0112003 immunodeficiency 33 ISO RGD:2308876 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 10082211 Cmc4 C-X9-C motif containing 4 gene DOID:10588 adrenoleukodystrophy ISO RGD:2308876 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 10082211 Cmc4 C-X9-C motif containing 4 gene DOID:11372 megacolon ISO RGD:2308876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 10082211 Cmc4 C-X9-C motif containing 4 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:2308876 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 10082211 Cmc4 C-X9-C motif containing 4 gene DOID:12134 factor VIII deficiency ISO RGD:2308876 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Factor 8 deficiency, congenital PMID:31690835 10082211 Cmc4 C-X9-C motif containing 4 gene DOID:12849 autistic disorder ISO RGD:2308876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 10082211 Cmc4 C-X9-C motif containing 4 gene DOID:13628 favism ISO RGD:2308876 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 10082211 Cmc4 C-X9-C motif containing 4 gene DOID:2729 dyskeratosis congenita ISO RGD:2308876 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 10082211 Cmc4 C-X9-C motif containing 4 gene DOID:607 paraplegia ISO RGD:2308876 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 10082211 Cmc4 C-X9-C motif containing 4 gene DOID:9002720 Splenomegaly ISO RGD:2308876 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 10082678 Cdc20 cell division cycle 20 gene DOID:0080600 COVID-19 ISO RGD:731833 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 10082678 Cdc20 cell division cycle 20 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:731833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 10082678 Cdc20 cell division cycle 20 gene DOID:684 hepatocellular carcinoma ISO RGD:731833 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 10082678 Cdc20 cell division cycle 20 gene DOID:9007104 Oocyte/Zygote/Embryo Maturation Arrest 14 ISO RGD:731833 D RGD:7240710 20230505 OMIM 10082678 Cdc20 cell division cycle 20 gene DOID:9007104 Oocyte/Zygote/Embryo Maturation Arrest 14 ISO RGD:731833 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Oocyte maturation defect 14 PMID:25741868|PMID:32666501|PMID:33683667|PMID:33898437|PMID:34218387 10082705 Mkrn3 makorin ring finger protein 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1322529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:23495136|PMID:25741868|PMID:27569545 10082705 Mkrn3 makorin ring finger protein 3 gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1322529 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:25741868|PMID:31690835 10082705 Mkrn3 makorin ring finger protein 3 gene DOID:0112309 central precocious puberty 2 ISO RGD:1322529 D RGD:7240710 20180130 OMIM 10082705 Mkrn3 makorin ring finger protein 3 gene DOID:0112309 central precocious puberty 2 ISO RGD:1322529 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: MKRN3-related condition | ClinVar Annotator: match by term: Precocious puberty, central, 2 PMID:23738509|PMID:25741868|PMID:26431553|PMID:28492532|PMID:28672280 10082705 Mkrn3 makorin ring finger protein 3 gene DOID:11983 Prader-Willi syndrome ISO RGD:1322529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prader-Willi syndrome PMID:28631899 10082705 Mkrn3 makorin ring finger protein 3 gene DOID:12849 autistic disorder ISO RGD:1322529 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:25741868|PMID:30208311|PMID:31690835 10082705 Mkrn3 makorin ring finger protein 3 gene DOID:1932 Angelman syndrome ISO RGD:1322529 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Angelman syndrome PMID:24088041|PMID:25741868|PMID:26633545|PMID:38177409 10082705 Mkrn3 makorin ring finger protein 3 gene DOID:5419 schizophrenia ISO RGD:1322529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 10082705 Mkrn3 makorin ring finger protein 3 gene DOID:630 genetic disease ISO RGD:1322529 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10082705 Mkrn3 makorin ring finger protein 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 10082705 Mkrn3 makorin ring finger protein 3 gene DOID:9007284 Precocious Puberty ISO RGD:1322529 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23738509 10083655 Adrb1 adrenoceptor beta 1 gene DOID:0050848 obstructive sleep apnea susceptibility ISO RGD:731289 D RGD:9068941 20200609 RGD associated with Hypertension;DNA:polymorphism: :p.R389G (human) PMID:20948559|REF_RGD_ID:4145102 10083655 Adrb1 adrenoceptor beta 1 gene DOID:10763 hypertension ISO RGD:2059 D RGD:9068941 20200609 RGD protein:increased expression:aorta PMID:19060223|REF_RGD_ID:5129127 10083655 Adrb1 adrenoceptor beta 1 gene DOID:10763 hypertension ISO RGD:731289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10673262|PMID:9260993 10083655 Adrb1 adrenoceptor beta 1 gene DOID:10763 hypertension ISO RGD:731289 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2; PMID:20398560|REF_RGD_ID:7241549 10083655 Adrb1 adrenoceptor beta 1 gene DOID:11664 nephrosclerosis disease_progression ISO RGD:731289 D RGD:9068941 20200609 RGD associated with hypertension;DNA:missense mutations, haplotype:cds:p.S49G(rs1801252),p.R389G (rs1801253)(human): PMID:19745105|REF_RGD_ID:7241815 10083655 Adrb1 adrenoceptor beta 1 gene DOID:1287 cardiovascular system disease ISO RGD:731289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11436944 10083655 Adrb1 adrenoceptor beta 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:2059 D RGD:9068941 20200609 RGD PMID:18287209|REF_RGD_ID:5129132 10083655 Adrb1 adrenoceptor beta 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:731289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9554809 10083655 Adrb1 adrenoceptor beta 1 gene DOID:12932 endomyocardial fibrosis ISO RGD:731289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14502278 10083655 Adrb1 adrenoceptor beta 1 gene DOID:13544 low tension glaucoma susceptibility ISO RGD:731289 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.R389G(human) PMID:16785856|REF_RGD_ID:8548468 10083655 Adrb1 adrenoceptor beta 1 gene DOID:1485 cystic fibrosis ISO RGD:731289 D RGD:9068941 20200609 RGD PMID:20203292|REF_RGD_ID:5129107 10083655 Adrb1 adrenoceptor beta 1 gene DOID:1591 renovascular hypertension ISO RGD:2059 D RGD:9068941 20200609 RGD PMID:15592645|PMID:17278011|REF_RGD_ID:7241568|REF_RGD_ID:7241580 10083655 Adrb1 adrenoceptor beta 1 gene DOID:1712 aortic valve stenosis ISO RGD:731289 D RGD:9068941 20200609 RGD PMID:1648674|REF_RGD_ID:7241565 10083655 Adrb1 adrenoceptor beta 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:731289 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to PMID:10212248|PMID:12374873|PMID:16844790|PMID:17496726 10083655 Adrb1 adrenoceptor beta 1 gene DOID:4195 hyperglycemia ISO RGD:2059 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:decreased expression:heart PMID:21831645|REF_RGD_ID:6893641 10083655 Adrb1 adrenoceptor beta 1 gene DOID:5844 myocardial infarction ISO RGD:2059 D RGD:9068941 20200609 RGD PMID:17143192|REF_RGD_ID:7241557 10083655 Adrb1 adrenoceptor beta 1 gene DOID:6000 congestive heart failure ISO RGD:2059 D RGD:9068941 20241219 RGD PMID:19587314|REF_RGD_ID:5129119 10083655 Adrb1 adrenoceptor beta 1 gene DOID:6000 congestive heart failure ISO RGD:731289 D RGD:9068941 20241219 CTD CTD Direct Evidence: marker/mechanism PMID:12374873|PMID:14502278|PMID:15816327|PMID:21516734|PMID:7586371 10083655 Adrb1 adrenoceptor beta 1 gene DOID:6000 congestive heart failure ISO RGD:731289 D RGD:9068941 20241219 RGD DNA:polymorphism: :p.R389G (human) PMID:14502278|REF_RGD_ID:737774 10083655 Adrb1 adrenoceptor beta 1 gene DOID:824 periodontitis ISO RGD:2059 D RGD:9068941 20200609 RGD PMID:18275933|REF_RGD_ID:5129135 10083655 Adrb1 adrenoceptor beta 1 gene DOID:824 periodontitis ISO RGD:731289 D RGD:9068941 20200609 RGD PMID:21958237|REF_RGD_ID:7241545 10083655 Adrb1 adrenoceptor beta 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:731289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17003101 10083655 Adrb1 adrenoceptor beta 1 gene DOID:9000483 Angina Pectoris ISO RGD:731289 D RGD:9068941 20200609 RGD PMID:11527135|REF_RGD_ID:5129114 10083655 Adrb1 adrenoceptor beta 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2059 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:19785950|REF_RGD_ID:5129118 10083655 Adrb1 adrenoceptor beta 1 gene DOID:9002211 Hyperalgesia ISO RGD:2059 D RGD:9068941 20200609 RGD PMID:19283893|REF_RGD_ID:5129125 10083655 Adrb1 adrenoceptor beta 1 gene DOID:9003996 Birth Weight ISO RGD:731289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23202124 10083655 Adrb1 adrenoceptor beta 1 gene DOID:9004009 Reperfusion Injury ISO RGD:2059 D RGD:9068941 20200609 RGD PMID:20451506|REF_RGD_ID:5129116 10083655 Adrb1 adrenoceptor beta 1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:2059 D RGD:9068941 20200609 RGD PMID:17143192|REF_RGD_ID:7241557 10083655 Adrb1 adrenoceptor beta 1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:731289 D RGD:9068941 20200609 RGD protein:decreased expression:left ventricle: PMID:8181801|REF_RGD_ID:7241563 10083655 Adrb1 adrenoceptor beta 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2059 D RGD:9068941 20200609 RGD protein:decreased expression:left ventricle muscular part PMID:21054861|REF_RGD_ID:5129115 10083655 Adrb1 adrenoceptor beta 1 gene DOID:9006450 Familial Natural Short Sleep 2 ISO RGD:731289 D RGD:7240710 20240605 OMIM 10083655 Adrb1 adrenoceptor beta 1 gene DOID:9006450 Familial Natural Short Sleep 2 ISO RGD:731289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SHORT SLEEP, FAMILIAL NATURAL, 2 PMID:31473062 10083655 Adrb1 adrenoceptor beta 1 gene DOID:9007039 Ventricular Dysfunction ISO RGD:731289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14502278 10083655 Adrb1 adrenoceptor beta 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:731289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9554809 10083655 Adrb1 adrenoceptor beta 1 gene DOID:9007278 Anaphylaxis disease_progression ISO RGD:2059 D RGD:9068941 20200609 RGD PMID:20959119|REF_RGD_ID:6893644 10083655 Adrb1 adrenoceptor beta 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2059 D RGD:9068941 20200609 RGD PMID:17201736|REF_RGD_ID:5129149 10083655 Adrb1 adrenoceptor beta 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:731289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10900253 10083655 Adrb1 adrenoceptor beta 1 gene DOID:9009039 Hyperemia ISO RGD:731289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17345787 10083655 Adrb1 adrenoceptor beta 1 gene DOID:9351 diabetes mellitus ISO RGD:731289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18378355 10083655 Adrb1 adrenoceptor beta 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:2059 D RGD:9068941 20200609 RGD PMID:21491159|REF_RGD_ID:6893642 10083655 Adrb1 adrenoceptor beta 1 gene DOID:9970 obesity ISO RGD:731289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12032746 10084575 Gng8 G protein subunit gamma 8 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:735730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:28492532 10084575 Gng8 G protein subunit gamma 8 gene DOID:0110644 long QT syndrome 1 ISO RGD:735730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 PMID:28492532 10084575 Gng8 G protein subunit gamma 8 gene DOID:409 liver disease ISO RGD:735730 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 10084596 Foxd1 forkhead box D1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1343882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 10084596 Foxd1 forkhead box D1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 10085659 Bend5 BEN domain containing 5 gene DOID:10283 prostate cancer ISO RGD:1606228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 10086815 Kiaa0040 KIAA0040 ortholog gene DOID:1540 parathyroid carcinoma ISO RGD:2290033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 10086815 Kiaa0040 KIAA0040 ortholog gene DOID:3755 antithrombin III deficiency ISO RGD:2290033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary antithrombin deficiency 10086815 Kiaa0040 KIAA0040 ortholog gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:2290033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:25741868|PMID:26333682 10086815 Kiaa0040 KIAA0040 ortholog gene DOID:9253 gastrointestinal stromal tumor ISO RGD:2290033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 10088056 Prr16 proline rich 16 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1602486 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 10088056 Prr16 proline rich 16 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602486 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 10088056 Prr16 proline rich 16 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1602486 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 10090455 Nkx3-2 NK3 homeobox 2 gene DOID:630 genetic disease ISO RGD:1353604 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10090455 Nkx3-2 NK3 homeobox 2 gene DOID:65 connective tissue disease ISO RGD:1353604 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 10090455 Nkx3-2 NK3 homeobox 2 gene DOID:9008170 Spondylo-Megaepiphyseal-Metaphyseal Dysplasia ISO RGD:1353604 D RGD:7240710 20180130 OMIM 10090455 Nkx3-2 NK3 homeobox 2 gene DOID:9008170 Spondylo-Megaepiphyseal-Metaphyseal Dysplasia ISO RGD:1353604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NKX3-2-related condition | ClinVar Annotator: match by term: Spondylo-megaepiphyseal-metaphyseal dysplasia PMID:20004766|PMID:25741868|PMID:28492532|PMID:29704686 10090462 A1bg alpha-1-B glycoprotein gene DOID:5419 schizophrenia ISO RGD:69466 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25821032 10090462 A1bg alpha-1-B glycoprotein gene DOID:9005369 Hepatomegaly ISO RGD:69466 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 10092336 Lrp12 LDL receptor related protein 12 gene DOID:0081297 oculopharyngodistal myopathy 1 ISO RGD:1312675 D RGD:7240710 20200722 OMIM 10092336 Lrp12 LDL receptor related protein 12 gene DOID:0081382 amyotrophic lateral sclerosis type 28 ISO RGD:1312675 D RGD:7240710 20230809 OMIM 10092336 Lrp12 LDL receptor related protein 12 gene DOID:0081382 amyotrophic lateral sclerosis type 28 ISO RGD:1312675 D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: LRP12-related condition 10092336 Lrp12 LDL receptor related protein 12 gene DOID:0110645 long QT syndrome 2 ISO RGD:1312675 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 PMID:25741868 10092336 Lrp12 LDL receptor related protein 12 gene DOID:0111590 Cohen syndrome ISO RGD:1312675 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 10092336 Lrp12 LDL receptor related protein 12 gene DOID:11719 oculopharyngeal muscular dystrophy ISO RGD:1312675 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31332380 10092336 Lrp12 LDL receptor related protein 12 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1312675 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 10092336 Lrp12 LDL receptor related protein 12 gene DOID:630 genetic disease ISO RGD:1312675 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10093894 Plvap plasmalemma vesicle associated protein gene DOID:630 genetic disease ISO RGD:1353643 D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10093894 Plvap plasmalemma vesicle associated protein gene DOID:684 hepatocellular carcinoma ISO RGD:1353643 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 10093894 Plvap plasmalemma vesicle associated protein gene DOID:9008956 DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE ISO RGD:1353643 D RGD:7240710 20190315 OMIM 10093894 Plvap plasmalemma vesicle associated protein gene DOID:9008956 DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE ISO RGD:1353643 D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Diarrhea 10, protein-losing enteropathy type | ClinVar Annotator: match by term: PLVAP-related condition PMID:25741868|PMID:26207260|PMID:28492532|PMID:29661969|PMID:29875123 10093904 Tefm transcription elongation factor, mitochondrial gene DOID:0111253 neurofibromatosis 1 ISO RGD:1605945 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 10093904 Tefm transcription elongation factor, mitochondrial gene DOID:1969 cerebral palsy ISO RGD:1605945 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 10093904 Tefm transcription elongation factor, mitochondrial gene DOID:9001543 Combined Oxidative Phosphorylation Deficiency 58 ISO RGD:1605945 D RGD:7240710 20230802 OMIM 10093904 Tefm transcription elongation factor, mitochondrial gene DOID:9008086 Developmental Disabilities ISO RGD:1605945 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:22241097 10098298 Gpr27 G protein-coupled receptor 27 gene DOID:1790 malignant mesothelioma ISO RGD:733557 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 10099434 Dmbt1 deleted in malignant brain tumors 1 gene DOID:0050771 pheochromocytoma ISO RGD:61984 D RGD:9068941 20200609 RGD mRNA:decreased expression PMID:17102098|REF_RGD_ID:1599780 10099434 Dmbt1 deleted in malignant brain tumors 1 gene DOID:2340 craniosynostosis ISO RGD:735357 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FGFR2-related craniosynostosis PMID:17873121|PMID:28492532|PMID:31754721 10099434 Dmbt1 deleted in malignant brain tumors 1 gene DOID:3068 glioblastoma ISO RGD:735357 D RGD:9068941 20200609 RGD DNA:deletion PMID:9288095|REF_RGD_ID:1599778 10099434 Dmbt1 deleted in malignant brain tumors 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:735357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 10099434 Dmbt1 deleted in malignant brain tumors 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:735357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 10099434 Dmbt1 deleted in malignant brain tumors 1 gene DOID:9003149 2-Methylbutyryl-CoA Dehydrogenase Deficiency ISO RGD:735357 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Deficiency of 2-methylbutyryl-CoA dehydrogenase PMID:20547083|PMID:26284228|PMID:28492532 10099434 Dmbt1 deleted in malignant brain tumors 1 gene DOID:9007971 Nose Neoplasms ISO RGD:61984 D RGD:9068941 20200609 RGD mRNA, Protein:increased expression PMID:12419858|REF_RGD_ID:1599782 10101754 C2cd4d C2 calcium dependent domain containing 4D gene DOID:0111940 immunodeficiency 42 ISO RGD:3563711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 10101754 C2cd4d C2 calcium dependent domain containing 4D gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:3563711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 10101754 C2cd4d C2 calcium dependent domain containing 4D gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:3563711 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 10101754 C2cd4d C2 calcium dependent domain containing 4D gene DOID:1540 parathyroid carcinoma ISO RGD:3563711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 10101754 C2cd4d C2 calcium dependent domain containing 4D gene DOID:5812 MHC class II deficiency ISO RGD:3563711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 10101754 C2cd4d C2 calcium dependent domain containing 4D gene DOID:9253 gastrointestinal stromal tumor ISO RGD:3563711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 10102463 Ctf1 cardiotrophin 1 gene DOID:0050700 cardiomyopathy ISO RGD:1350898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 10102463 Ctf1 cardiotrophin 1 gene DOID:0060611 abdominal obesity-metabolic syndrome ISO RGD:736471 D RGD:9068941 20220825 MouseDO 10102463 Ctf1 cardiotrophin 1 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1350898 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:11058912|PMID:24033266|PMID:26084686|PMID:28492532 10102463 Ctf1 cardiotrophin 1 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1350898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 10102463 Ctf1 cardiotrophin 1 gene DOID:0111301 generalized epilepsy with febrile seizures plus 9 ISO RGD:1350898 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 PMID:28492532 10102463 Ctf1 cardiotrophin 1 gene DOID:10763 hypertension ISO RGD:1350898 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:15716706|REF_RGD_ID:1626411 10102463 Ctf1 cardiotrophin 1 gene DOID:10763 hypertension ISO RGD:2442 D RGD:9068941 20200917 RGD mRNA:increased expression:cardiac ventricle PMID:8604995|REF_RGD_ID:69823 10102463 Ctf1 cardiotrophin 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1350898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 10102463 Ctf1 cardiotrophin 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1350898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11058912|PMID:24033266|PMID:25741868|PMID:27149842|PMID:28492532 10102463 Ctf1 cardiotrophin 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1350898 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11058912|PMID:24033266|PMID:25741868|PMID:26084686|PMID:27149842|PMID:28492532 10102463 Ctf1 cardiotrophin 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1350898 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11058912|PMID:24033266|PMID:25741868|PMID:26084686|PMID:27149842|PMID:28492532|PMID:34228484 10102463 Ctf1 cardiotrophin 1 gene DOID:557 kidney disease ISO RGD:1350898 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23335628 10102463 Ctf1 cardiotrophin 1 gene DOID:9000808 Hypercholesterolemia ISO RGD:1350898 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21803294 10102463 Ctf1 cardiotrophin 1 gene DOID:9003936 Cardiomegaly ISO RGD:1350898 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18400235|PMID:19100119 10102463 Ctf1 cardiotrophin 1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1350898 D RGD:9068941 20200917 RGD associated with hypertension;protein:increased expression:plasma PMID:15716706|REF_RGD_ID:1626411 10102463 Ctf1 cardiotrophin 1 gene DOID:9005749 Necrosis ISO RGD:1350898 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23335628 10102463 Ctf1 cardiotrophin 1 gene DOID:9006024 Hypotension ISO RGD:1350898 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11304496 10102463 Ctf1 cardiotrophin 1 gene DOID:9007692 Insulin Resistance ISO RGD:1350898 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21803294 10102463 Ctf1 cardiotrophin 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736471 D RGD:9068941 20220825 MouseDO OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 10102463 Ctf1 cardiotrophin 1 gene DOID:9970 obesity ISO RGD:1350898 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21803294 10104730 Defb135 defensin beta 135 gene DOID:14004 thoracic aortic aneurysm ISO RGD:2307454 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm PMID:32748548 10104730 Defb135 defensin beta 135 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2307454 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 10105215 Znf488 zinc finger protein 488 gene DOID:5419 schizophrenia ISO RGD:1320391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 10105221 Tmem259 transmembrane protein 259 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1322435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 10105221 Tmem259 transmembrane protein 259 gene DOID:3852 Peutz-Jeghers syndrome ISO RGD:1322435 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peutz-Jeghers syndrome PMID:14970844|PMID:15188174|PMID:16287113|PMID:16648371|PMID:17924967|PMID:20623358|PMID:21118512|PMID:22382802|PMID:23399955|PMID:27550049|PMID:28303455|PMID:28492532 10105221 Tmem259 transmembrane protein 259 gene DOID:5339 cyclic hematopoiesis ISO RGD:1322435 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 10114792 Ftmt ferritin mitochondrial gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1348564 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 10114792 Ftmt ferritin mitochondrial gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348564 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 10114792 Ftmt ferritin mitochondrial gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348564 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 10122869 Atp5me ATP synthase membrane subunit e gene DOID:0070096 oculocutaneous albinism type II ISO RGD:1350783 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Tyrosinase-positive oculocutaneous albinism PMID:22334370|PMID:25741868|PMID:27588261|PMID:28492532|PMID:8394174|PMID:8595886 10122869 Atp5me ATP synthase membrane subunit e gene DOID:0110375 retinitis pigmentosa 40 ISO RGD:1350783 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 40 PMID:25741868 10122869 Atp5me ATP synthase membrane subunit e gene DOID:10584 retinitis pigmentosa ISO RGD:1350783 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:22334370|PMID:25741868|PMID:27588261|PMID:28492532|PMID:8394174|PMID:8595886 10122869 Atp5me ATP synthase membrane subunit e gene DOID:114 heart disease ISO RGD:1350783 D RGD:9068941 20230706 CTD CTD Direct Evidence: marker/mechanism PMID:16844662 10122869 Atp5me ATP synthase membrane subunit e gene DOID:1856 cherubism ISO RGD:1350783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 10122869 Atp5me ATP synthase membrane subunit e gene DOID:8501 fundus dystrophy ISO RGD:1350783 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:22334370|PMID:25741868|PMID:27588261|PMID:28492532|PMID:8394174|PMID:8595886 10122869 Atp5me ATP synthase membrane subunit e gene DOID:9005541 Mental Retardation, Autosomal Recessive 53 ISO RGD:1350783 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY PMID:26996948|PMID:28492532|PMID:28581210|PMID:28771251|PMID:34113002 10128260 Kctd14 potassium channel tetramerization domain containing 14 gene DOID:1059 intellectual disability ISO RGD:1315042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 10129557 Mrps28 mitochondrial ribosomal protein S28 gene DOID:0112114 combined oxidative phosphorylation deficiency 47 ISO RGD:1313591 D RGD:7240710 20200812 OMIM 10129557 Mrps28 mitochondrial ribosomal protein S28 gene DOID:0112114 combined oxidative phosphorylation deficiency 47 ISO RGD:1313591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 47 PMID:30566640 10129557 Mrps28 mitochondrial ribosomal protein S28 gene DOID:9008939 Breast Neoplasms ISO RGD:1313591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 10131090 Tmem129 transmembrane protein 129, E3 ubiquitin ligase gene DOID:1856 cherubism ISO RGD:1606992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 10131559 Plin4 perilipin 4 gene DOID:13938 amenorrhea ISO RGD:1347657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 10131559 Plin4 perilipin 4 gene DOID:9005244 Vacuolar Neuromyopathy ISO RGD:1347657 D RGD:7240710 20230802 OMIM 10132159 Nova2 NOVA alternative splicing regulator 2 gene DOID:1059 intellectual disability ISO RGD:1317566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe PMID:25167861|PMID:32197073 10132159 Nova2 NOVA alternative splicing regulator 2 gene DOID:630 genetic disease ISO RGD:1317566 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10132159 Nova2 NOVA alternative splicing regulator 2 gene DOID:9001712 Neurodevelopmental Disorder with or without Autistic Features and/or Structural Brain Abnormalities ISO RGD:1317566 D RGD:7240710 20200812 OMIM 10132159 Nova2 NOVA alternative splicing regulator 2 gene DOID:9001712 Neurodevelopmental Disorder with or without Autistic Features and/or Structural Brain Abnormalities ISO RGD:1317566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NOVA2-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities PMID:25167861|PMID:25741868|PMID:32197073 10133507 Defb136 defensin beta 136 gene DOID:14004 thoracic aortic aneurysm ISO RGD:2307453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm PMID:32748548 10133507 Defb136 defensin beta 136 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2307453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 10135390 Brk1 BRICK1 subunit of SCAR/WAVE actin nucleating complex gene DOID:0060474 familial erythrocytosis 2 ISO RGD:1352437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chuvash polycythemia PMID:10567493|PMID:10830910|PMID:17537157|PMID:19280651|PMID:19764026|PMID:20567917|PMID:28492532|PMID:8634692 10135390 Brk1 BRICK1 subunit of SCAR/WAVE actin nucleating complex gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:1352437 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure PMID:25865495|PMID:28492532|PMID:31401500 10135390 Brk1 BRICK1 subunit of SCAR/WAVE actin nucleating complex gene DOID:0112134 severe congenital neutropenia 6 ISO RGD:1352437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency PMID:28492532 10135390 Brk1 BRICK1 subunit of SCAR/WAVE actin nucleating complex gene DOID:13636 Fanconi anemia ISO RGD:1352437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:17436244|PMID:28492532 10135390 Brk1 BRICK1 subunit of SCAR/WAVE actin nucleating complex gene DOID:14175 von Hippel-Lindau disease ISO RGD:1352437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Von Hippel-Lindau syndrome PMID:25741868 10135390 Brk1 BRICK1 subunit of SCAR/WAVE actin nucleating complex gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 10135390 Brk1 BRICK1 subunit of SCAR/WAVE actin nucleating complex gene DOID:9005487 Candidiasis, Familial, 9 ISO RGD:1352437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Candidiasis, familial, 9 PMID:28492532 10135390 Brk1 BRICK1 subunit of SCAR/WAVE actin nucleating complex gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1352437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:25516202|PMID:28492532 10139980 Uhrf1 ubiquitin like with PHD and ring finger domains 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1352913 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 10139980 Uhrf1 ubiquitin like with PHD and ring finger domains 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1352913 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 10139980 Uhrf1 ubiquitin like with PHD and ring finger domains 1 gene DOID:9002928 Colonic Neoplasms treatment ISO RGD:1332040 D RGD:9068941 20200609 RGD PMID:20442318|REF_RGD_ID:9587430 10140531 Tnni2 troponin I2, fast skeletal type gene DOID:0050646 distal arthrogryposis ISO RGD:1344978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita distal | ClinVar Annotator: match by term: Distal arthrogryposis PMID:12592607|PMID:17101001|PMID:17194691|PMID:25741868 10140531 Tnni2 troponin I2, fast skeletal type gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1344978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 10140531 Tnni2 troponin I2, fast skeletal type gene DOID:0080000 muscular disease ISO RGD:1344978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19628585 10140531 Tnni2 troponin I2, fast skeletal type gene DOID:0080773 delta beta-thalassemia ISO RGD:1344978 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 10140531 Tnni2 troponin I2, fast skeletal type gene DOID:0080954 arthrogryposis multiplex congenita ISO RGD:1344978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita PMID:25741868 10140531 Tnni2 troponin I2, fast skeletal type gene DOID:0111599 distal arthrogryposis type 2B ISO RGD:1344978 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita distal type II with craniofacial abnormalities PMID:25741868|PMID:28492532 10140531 Tnni2 troponin I2, fast skeletal type gene DOID:0111600 distal arthrogryposis type 2B1 ISO RGD:1344978 D RGD:7240710 20180130 OMIM 10140531 Tnni2 troponin I2, fast skeletal type gene DOID:0111600 distal arthrogryposis type 2B1 ISO RGD:1344978 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Distal arthrogryposis type 2B1 | ClinVar Annotator: match by term: TNNI2-related condition PMID:12592607|PMID:17101001|PMID:17194691|PMID:23401156|PMID:23850728|PMID:25340332|PMID:25741868|PMID:26526134|PMID:27790376|PMID:28492532 10140531 Tnni2 troponin I2, fast skeletal type gene DOID:0111969 immunodeficiency 39 ISO RGD:1344978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 10140531 Tnni2 troponin I2, fast skeletal type gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1344978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 10140531 Tnni2 troponin I2, fast skeletal type gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1344978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 10140531 Tnni2 troponin I2, fast skeletal type gene DOID:5572 Beckwith-Wiedemann syndrome ISO RGD:1344978 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome PMID:21910219|PMID:25427884|PMID:28492532 10140531 Tnni2 troponin I2, fast skeletal type gene DOID:630 genetic disease ISO RGD:1344978 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10140531 Tnni2 troponin I2, fast skeletal type gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1344978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 10141913 Serpina10 serpin family A member 10 gene DOID:0080054 achondrogenesis type IA ISO RGD:1353693 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 10141913 Serpina10 serpin family A member 10 gene DOID:0080380 nephrotic syndrome type 5 ISO RGD:1353693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 5, with or without ocular abnormalities PMID:15461625|PMID:18710385|PMID:22039093|PMID:23352160|PMID:25741868 10141913 Serpina10 serpin family A member 10 gene DOID:0081063 DICER1 syndrome ISO RGD:1353693 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:26545620|PMID:26555935|PMID:28492532 10141913 Serpina10 serpin family A member 10 gene DOID:2452 thrombophilia ISO RGD:1353693 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15461625 10141913 Serpina10 serpin family A member 10 gene DOID:2452 thrombophilia ISO RGD:1353693 D RGD:9068941 20200609 RGD DNA:nonsense mutations, missense mutations:cds:multiple (human) PMID:15461625|REF_RGD_ID:1580104 10141913 Serpina10 serpin family A member 10 gene DOID:4769 pleuropulmonary blastoma ISO RGD:1353693 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome PMID:26545620|PMID:26555935|PMID:28492532 10141913 Serpina10 serpin family A member 10 gene DOID:9003871 Venous Thrombosis ISO RGD:1353693 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Venous thrombosis, susceptibility to PMID:15461625|PMID:25741868 10154021 Ahnak2 AHNAK nucleoprotein 2 gene DOID:0050753 cerebellar ataxia ISO RGD:1320178 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Dysmetria PMID:25741868 10154021 Ahnak2 AHNAK nucleoprotein 2 gene DOID:0061101 immunodeficiency 132A ISO RGD:1320178 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 PMID:28492532 10154021 Ahnak2 AHNAK nucleoprotein 2 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1320178 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 10154021 Ahnak2 AHNAK nucleoprotein 2 gene DOID:0111130 focal segmental glomerulosclerosis 5 ISO RGD:1320178 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 PMID:28492532 10156530 Znf358 zinc finger protein 358 gene DOID:0080490 mucolipidosis type IV ISO RGD:1321306 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 10156530 Znf358 zinc finger protein 358 gene DOID:0110790 hereditary spastic paraplegia 39 ISO RGD:1321306 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 39 PMID:28492532 10156556 Ptma prothymosin alpha gene DOID:0060476 Perlman syndrome ISO RGD:733876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 10156556 Ptma prothymosin alpha gene DOID:0080322 polycystic kidney disease ISO RGD:62120 D RGD:9068941 20240425 MouseDO 10156556 Ptma prothymosin alpha gene DOID:0110991 Joubert syndrome 22 ISO RGD:733876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 10156556 Ptma prothymosin alpha gene DOID:3247 rhabdomyosarcoma ISO RGD:733876 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16669873 10156556 Ptma prothymosin alpha gene DOID:657 adenoma ISO RGD:733876 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10822126 10156556 Ptma prothymosin alpha gene DOID:9005172 Lung Neoplasms ISO RGD:733876 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10822126 10156556 Ptma prothymosin alpha gene DOID:9452 steatotic liver disease ISO RGD:733876 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15885234 10156556 Ptma prothymosin alpha gene DOID:9675 pulmonary emphysema ISO RGD:62120 D RGD:9068941 20240425 MouseDO OMIM:130700 10162655 LOC106150206 olfactory receptor 10R2 gene DOID:1540 parathyroid carcinoma ISO RGD:1354093 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 10162655 LOC106150206 olfactory receptor 10R2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1354093 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 10170186 Rasl11a RAS like family 11 member A gene DOID:289 endometriosis ISO RGD:1343885 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 10170186 Rasl11a RAS like family 11 member A gene DOID:9008443 Colorectal Neoplasms ISO RGD:1343885 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30224643 10170936 B3gnt4 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 gene DOID:0080154 short chain acyl-CoA dehydrogenase deficiency ISO RGD:1320043 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase PMID:28492532 10170936 B3gnt4 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 gene DOID:0110585 autosomal dominant nonsyndromic deafness 64 ISO RGD:1320043 D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: DIABLO-related condition | ClinVar Annotator: match by term: Deafness, autosomal dominant 64 PMID:24033266|PMID:25741868|PMID:28492532 10170936 B3gnt4 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 gene DOID:9004538 Hearing Loss ISO RGD:1320043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:28492532|PMID:30311386 10173859 Foxe1 forkhead box E1 gene DOID:0050328 congenital hypothyroidism ISO RGD:735500 D RGD:9068941 20220825 MouseDO 10173859 Foxe1 forkhead box E1 gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:735499 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 10173859 Foxe1 forkhead box E1 gene DOID:0050655 Bamforth-Lazarus syndrome ISO RGD:735499 D RGD:7240710 20180130 OMIM 10173859 Foxe1 forkhead box E1 gene DOID:0050655 Bamforth-Lazarus syndrome ISO RGD:735499 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Bamforth-Lazarus syndrome PMID:12165566|PMID:16882747|PMID:21177256|PMID:24219130|PMID:25381600|PMID:25741868|PMID:28444304|PMID:28492532|PMID:2918525|PMID:32428920|PMID:35963604|PMID:9697705 10173859 Foxe1 forkhead box E1 gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:735499 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 10173859 Foxe1 forkhead box E1 gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:735499 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 10173859 Foxe1 forkhead box E1 gene DOID:1059 intellectual disability ISO RGD:735499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 10173859 Foxe1 forkhead box E1 gene DOID:12712 nephronophthisis ISO RGD:735499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 10173859 Foxe1 forkhead box E1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:735499 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:28492532 10173859 Foxe1 forkhead box E1 gene DOID:1827 generalized epilepsy ISO RGD:735499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:28492532 10173859 Foxe1 forkhead box E1 gene DOID:630 genetic disease ISO RGD:735499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10173859 Foxe1 forkhead box E1 gene DOID:9003422 Thyroid Cancer, Nonmedullary, 4 ISO RGD:735499 D RGD:7240710 20180418 OMIM 10173859 Foxe1 forkhead box E1 gene DOID:9003422 Thyroid Cancer, Nonmedullary, 4 ISO RGD:735499 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 4 PMID:25381600|PMID:25741868|PMID:28444304|PMID:32428920 10178222 CUNH1orf115 chromosome unknown C1orf115 homolog gene DOID:0050439 Usher syndrome ISO RGD:1605938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:28041643 10178222 CUNH1orf115 chromosome unknown C1orf115 homolog gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1605938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 10178222 CUNH1orf115 chromosome unknown C1orf115 homolog gene DOID:0080600 COVID-19 ISO RGD:1605938 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 10178222 CUNH1orf115 chromosome unknown C1orf115 homolog gene DOID:1540 parathyroid carcinoma ISO RGD:1605938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 10178222 CUNH1orf115 chromosome unknown C1orf115 homolog gene DOID:9006949 Martsolf Syndrome ISO RGD:1605938 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Martsolf syndrome PMID:23420520|PMID:28492532 10178222 CUNH1orf115 chromosome unknown C1orf115 homolog gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 10179767 Ccdc6 coiled-coil domain containing 6 gene DOID:0061043 autosomal dominant intellectual developmental disorder 70 ISO RGD:1344180 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 70 PMID:25741868 10179767 Ccdc6 coiled-coil domain containing 6 gene DOID:10652 Alzheimer's disease ISO RGD:1344180 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:33589840 10179767 Ccdc6 coiled-coil domain containing 6 gene DOID:3969 papillary thyroid carcinoma ISO RGD:1344180 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 10182818 Ppp2r3b protein phosphatase 2 regulatory subunit B''beta gene DOID:12849 autistic disorder ISO RGD:1604626 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 10184969 Tma7 translation machinery associated 7 homolog gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1605384 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 10187399 Zbtb32 zinc finger and BTB domain containing 32 gene DOID:0080600 COVID-19 ISO RGD:1604369 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 10187399 Zbtb32 zinc finger and BTB domain containing 32 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1604369 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 10187399 Zbtb32 zinc finger and BTB domain containing 32 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1604369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 10187399 Zbtb32 zinc finger and BTB domain containing 32 gene DOID:543 dystonia ISO RGD:1604369 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 10197077 Rrs1 ribosome biogenesis regulator 1 homolog gene DOID:3910 lung adenocarcinoma ISO RGD:1322847 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 10197077 Rrs1 ribosome biogenesis regulator 1 homolog gene DOID:9006205 Animal Disease Models ISO RGD:1322847 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 10200077 Prss8 serine protease 8 gene DOID:0060713 autosomal recessive congenital ichthyosis 4B ISO RGD:730926 D RGD:9068941 20220825 MouseDO OMIM:242500 10200077 Prss8 serine protease 8 gene DOID:0080074 neural tube defect ISO RGD:730925 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24722141 10200077 Prss8 serine protease 8 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:730925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 10200077 Prss8 serine protease 8 gene DOID:12930 dilated cardiomyopathy ISO RGD:730925 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant PMID:28492532 10200077 Prss8 serine protease 8 gene DOID:2394 ovarian cancer ISO RGD:730925 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:11584061|REF_RGD_ID:2292486 10200077 Prss8 serine protease 8 gene DOID:3459 breast carcinoma ISO RGD:730925 D RGD:9068941 20200609 RGD PMID:11774283|REF_RGD_ID:2292485 10200077 Prss8 serine protease 8 gene DOID:37 skin disease ISO RGD:730925 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22705055 10200077 Prss8 serine protease 8 gene DOID:780 placenta disease ISO RGD:730925 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24722141 10200077 Prss8 serine protease 8 gene DOID:8634 prostate carcinoma in situ disease_progression ISO RGD:730925 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:prostate gland PMID:12518323|REF_RGD_ID:2292484 10200077 Prss8 serine protease 8 gene DOID:9000965 Neoplasm Metastasis ISO RGD:730925 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms;mRNA:decreased expression:prostate gland, bone PMID:12518323|REF_RGD_ID:2292484 10200077 Prss8 serine protease 8 gene DOID:9001984 Fetal Diseases ISO RGD:730925 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22705055 10200077 Prss8 serine protease 8 gene DOID:9002304 Prostatic Neoplasms ISO RGD:730925 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16541421 10200077 Prss8 serine protease 8 gene DOID:9002304 Prostatic Neoplasms ISO RGD:730925 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate gland PMID:12518323|REF_RGD_ID:2292484 10200077 Prss8 serine protease 8 gene DOID:9002304 Prostatic Neoplasms disease_progression ISO RGD:730925 D RGD:9068941 20200609 RGD mRNA:increased expression:blood PMID:11173941|REF_RGD_ID:2292487 10200077 Prss8 serine protease 8 gene DOID:9007023 Prenatal Injuries ISO RGD:730925 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24722141 10200077 Prss8 serine protease 8 gene DOID:987 alopecia ISO RGD:619973 D RGD:9068941 20211022 RGD DNA:deletion:cds:exon 3 (rat) PMID:20201958|REF_RGD_ID:150520038 10201643 Spata31g1 SPATA31 subfamily G member 1 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ISO RGD:1604527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 10201643 Spata31g1 SPATA31 subfamily G member 1 gene DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2 ISO RGD:1604527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 10201643 Spata31g1 SPATA31 subfamily G member 1 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1604527 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 10201643 Spata31g1 SPATA31 subfamily G member 1 gene DOID:0080942 anauxetic dysplasia ISO RGD:1604527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 10201643 Spata31g1 SPATA31 subfamily G member 1 gene DOID:0111065 autosomal recessive distal hereditary motor neuronopathy 2 ISO RGD:1604527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 10201643 Spata31g1 SPATA31 subfamily G member 1 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1604527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 10201643 Spata31g1 SPATA31 subfamily G member 1 gene DOID:607 paraplegia ISO RGD:1604527 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:23332916|PMID:23332917|PMID:28492532 10201643 Spata31g1 SPATA31 subfamily G member 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1604527 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 10201643 Spata31g1 SPATA31 subfamily G member 1 gene DOID:9870 galactosemia ISO RGD:1604527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 10202549 Fam174c family with sequence similarity 174 member C gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1346714 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:15108290|PMID:28492532 10202549 Fam174c family with sequence similarity 174 member C gene DOID:5339 cyclic hematopoiesis ISO RGD:1346714 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 10208797 Znf599 zinc finger protein 599 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1603572 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 10210341 Ctu1 cytosolic thiouridylase subunit 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1602450 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 10210341 Ctu1 cytosolic thiouridylase subunit 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1602450 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 10210341 Ctu1 cytosolic thiouridylase subunit 1 gene DOID:9006205 Animal Disease Models ISO RGD:1602450 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 10210341 Ctu1 cytosolic thiouridylase subunit 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1602450 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 10211058 Sox17 SRY-box transcription factor 17 gene DOID:10941 intracranial aneurysm ISO RGD:1313358 D RGD:9068941 20230615 RGD protein:decreased expression:middle cerebral artery (human) PMID:25596186|REF_RGD_ID:329853324 10211058 Sox17 SRY-box transcription factor 17 gene DOID:10941 intracranial aneurysm no_association ISO RGD:1313358 D RGD:9068941 20230720 RGD DNA:SNP:enhancer: (rs10958409) (human) PMID:31250579|REF_RGD_ID:329955568 10211058 Sox17 SRY-box transcription factor 17 gene DOID:10941 intracranial aneurysm susceptibility ISO RGD:1313358 D RGD:9068941 20230713 RGD DNA:SNP:enhancer: (rs1072737) (human) PMID:22961961|PMID:29191544|PMID:31040677|REF_RGD_ID:329853325|REF_RGD_ID:329853736|REF_RGD_ID:329955463 10211058 Sox17 SRY-box transcription factor 17 gene DOID:10941 intracranial aneurysm susceptibility ISO RGD:1313358 D RGD:9068941 20230720 RGD DNA:SNP:enhancer: (rs10958409) (human) PMID:18997786|PMID:20364137|REF_RGD_ID:329955465|REF_RGD_ID:329955569 10211058 Sox17 SRY-box transcription factor 17 gene DOID:11561 hypertensive retinopathy treatment ISO RGD:1313359 D RGD:9068941 20230615 RGD PMID:36200131|REF_RGD_ID:329853320 10211058 Sox17 SRY-box transcription factor 17 gene DOID:13608 biliary atresia ISO RGD:1313359 D RGD:9068941 20220825 MouseDO 10211058 Sox17 SRY-box transcription factor 17 gene DOID:13832 patent ductus arteriosus ISO RGD:1313358 D RGD:9068941 20230615 RGD DNA:nonsense mutation:CDS:p.E185* (human) PMID:33794346|REF_RGD_ID:329853328 10211058 Sox17 SRY-box transcription factor 17 gene DOID:14557 primary pulmonary hypertension ISO RGD:1313358 D RGD:9068941 20230615 RGD protein:decreased expression:pulmonary artery (human) PMID:36919784|REF_RGD_ID:329853737 10211058 Sox17 SRY-box transcription factor 17 gene DOID:4947 cholangiocarcinoma severity ISO RGD:1305371 D RGD:9068941 20200609 RGD PMID:20816680|REF_RGD_ID:4889598 10211058 Sox17 SRY-box transcription factor 17 gene DOID:630 genetic disease ISO RGD:1313358 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10211058 Sox17 SRY-box transcription factor 17 gene DOID:6432 pulmonary hypertension ISO RGD:1305371 D RGD:9068941 20230615 RGD protein:decreased expression:lung (rat) PMID:36913491|REF_RGD_ID:329853317 10211058 Sox17 SRY-box transcription factor 17 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1313358 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension 10211058 Sox17 SRY-box transcription factor 17 gene DOID:9001820 Pulmonary Arterial Hypertension onset ISO RGD:1313358 D RGD:9068941 20230615 RGD DNA:frameshift mutations, missense mutations, SNP:CDS, intron:multiple (human) PMID:29650961|REF_RGD_ID:329853735 10211058 Sox17 SRY-box transcription factor 17 gene DOID:9001820 Pulmonary Arterial Hypertension susceptibility ISO RGD:1313358 D RGD:9068941 20230713 RGD DNA:SNPs:enhancers: (rs10103692, rs13266183) (human) PMID:30527955|REF_RGD_ID:329955464 10211058 Sox17 SRY-box transcription factor 17 gene DOID:9004716 Vesicoureteral Reflux 3 ISO RGD:1313358 D RGD:7240710 20180130 OMIM 10211058 Sox17 SRY-box transcription factor 17 gene DOID:9004716 Vesicoureteral Reflux 3 ISO RGD:1313358 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: SOX17-related condition | ClinVar Annotator: match by term: Vesicoureteral reflux 3 PMID:20960469|PMID:25741868|PMID:28492532|PMID:28566479 10211058 Sox17 SRY-box transcription factor 17 gene DOID:9006166 Pulmonary Hypertension, Hypoxia-Induced ISO RGD:1313359 D RGD:9068941 20230615 RGD protein:decreased expression:pulmonary artery endothelium (mouse) PMID:36919784|REF_RGD_ID:329853737 10211058 Sox17 SRY-box transcription factor 17 gene DOID:9006166 Pulmonary Hypertension, Hypoxia-Induced exacerbates ISO RGD:1313359 D RGD:9068941 20230615 RGD PMID:36205124|PMID:36913491|PMID:37066790|REF_RGD_ID:329853316|REF_RGD_ID:329853317|REF_RGD_ID:329853734 10211058 Sox17 SRY-box transcription factor 17 gene DOID:9007337 Teratogenesis ISO RGD:1313358 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24154490 10211058 Sox17 SRY-box transcription factor 17 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1313358 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18413743 10211058 Sox17 SRY-box transcription factor 17 gene DOID:9620 vesicoureteral reflux ISO RGD:1313358 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vesicoureteral reflux PMID:25741868 10215893 Nipsnap1 nipsnap homolog 1 gene DOID:0111252 vestibular schwannomatosis ISO RGD:1321311 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:19968670|PMID:28492532|PMID:9643284|PMID:9817927 10215893 Nipsnap1 nipsnap homolog 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1321311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:16551709|PMID:17085682|PMID:21876083|PMID:24713400|PMID:24763289|PMID:28492532 10218927 Rcvrn recoverin gene DOID:0080719 congenital myopathy 6 ISO RGD:734065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia PMID:28492532 10222039 Ncr3 natural cytotoxicity triggering receptor 3 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1353948 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 10222039 Ncr3 natural cytotoxicity triggering receptor 3 gene DOID:0080600 COVID-19 ISO RGD:1353948 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 10222039 Ncr3 natural cytotoxicity triggering receptor 3 gene DOID:11372 megacolon ISO RGD:1353948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 10222039 Ncr3 natural cytotoxicity triggering receptor 3 gene DOID:12365 malaria ISO RGD:1353948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malaria, severe, susceptibility to | ClinVar Annotator: match by term: NCR3-related condition PMID:17208487 10222039 Ncr3 natural cytotoxicity triggering receptor 3 gene DOID:12365 malaria susceptibility ISO RGD:1353948 D RGD:7240710 20190502 OMIM 10222039 Ncr3 natural cytotoxicity triggering receptor 3 gene DOID:1883 hepatitis C disease_progression ISO RGD:1353948 D RGD:9068941 20201112 RGD protein:increased expression:peripheral blood mononuclear cell, natural killer cell (human) PMID:17553896|REF_RGD_ID:40400745 10222039 Ncr3 natural cytotoxicity triggering receptor 3 gene DOID:635 acquired immunodeficiency syndrome ISO RGD:1353948 D RGD:9068941 20201117 RGD protein:decreased expression:peripheral blood mononuclear cell,natural killer cell (human) PMID:27382604|REF_RGD_ID:40818276 10222039 Ncr3 natural cytotoxicity triggering receptor 3 gene DOID:9004017 Chronic Hepatitis C ISO RGD:1353948 D RGD:9068941 20201112 RGD protein:increased expression:peripheral blood mononuclear cell, natural killer cell (human) PMID:20550548|REF_RGD_ID:40818079 10222039 Ncr3 natural cytotoxicity triggering receptor 3 gene DOID:9004017 Chronic Hepatitis C ISO RGD:1353948 D RGD:9068941 20201118 RGD protein:decreased expression:peripheral blood mononuclear cell, natural killer cell (human) PMID:23813131|REF_RGD_ID:40818297 10222039 Ncr3 natural cytotoxicity triggering receptor 3 gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:1353948 D RGD:9068941 20201106 RGD protein:decreased expression:peripheral blood mononuclear cell, natural killer cell (human) PMID:21168454|REF_RGD_ID:40400738 10222039 Ncr3 natural cytotoxicity triggering receptor 3 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:1353948 D RGD:9068941 20201118 RGD PMID:16322112|PMID:21695691|REF_RGD_ID:40818295|REF_RGD_ID:40818296 10225368 Klk1 kallikrein 1 gene DOID:0050700 cardiomyopathy ISO RGD:1349866 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:15117887|REF_RGD_ID:1641802 10225368 Klk1 kallikrein 1 gene DOID:10763 hypertension ISO RGD:1349866 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:14568997 10225368 Klk1 kallikrein 1 gene DOID:10763 hypertension ISO RGD:1349866 D RGD:9068941 20200609 RGD PMID:17272402|REF_RGD_ID:1641794 10225368 Klk1 kallikrein 1 gene DOID:10763 hypertension ISO RGD:2969 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney PMID:15809361|REF_RGD_ID:1358144 10225368 Klk1 kallikrein 1 gene DOID:10763 hypertension no_association ISO RGD:1349866 D RGD:9068941 20200609 RGD PMID:15167446|REF_RGD_ID:1581751 10225368 Klk1 kallikrein 1 gene DOID:10763 hypertension susceptibility ISO RGD:1349866 D RGD:9068941 20200609 RGD DNA:polymorphisms PMID:15905889|REF_RGD_ID:1641795 10225368 Klk1 kallikrein 1 gene DOID:3021 acute kidney failure ISO RGD:1349866 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18227104 10225368 Klk1 kallikrein 1 gene DOID:4989 pancreatitis ISO RGD:2969 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:12770935|REF_RGD_ID:1641805 10225368 Klk1 kallikrein 1 gene DOID:5844 myocardial infarction ISO RGD:1349866 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12411458 10225368 Klk1 kallikrein 1 gene DOID:5844 myocardial infarction ISO RGD:1349866 D RGD:9068941 20200609 RGD PMID:17022964|REF_RGD_ID:1641799 10225368 Klk1 kallikrein 1 gene DOID:783 end stage renal disease ISO RGD:1349866 D RGD:9068941 20200609 RGD PMID:11849458|REF_RGD_ID:1581753 10225368 Klk1 kallikrein 1 gene DOID:784 chronic kidney disease susceptibility ISO RGD:1349866 D RGD:9068941 20200609 RGD associated with Vesico-Ureteral Reflux PMID:15086490|REF_RGD_ID:1581752 10225368 Klk1 kallikrein 1 gene DOID:9000784 Fibrosis ISO RGD:1349866 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18227104 10225368 Klk1 kallikrein 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1349866 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19516248 10225368 Klk1 kallikrein 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1349866 D RGD:9068941 20200609 RGD PMID:17272402|REF_RGD_ID:1641794 10225368 Klk1 kallikrein 1 gene DOID:9003936 Cardiomegaly ISO RGD:1349866 D RGD:9068941 20200609 RGD PMID:17137568|REF_RGD_ID:1641797 10225368 Klk1 kallikrein 1 gene DOID:9004009 Reperfusion Injury ISO RGD:2969 D RGD:9068941 20200609 RGD PMID:12746231|REF_RGD_ID:1641806 10225368 Klk1 kallikrein 1 gene DOID:9004915 Decreased Urinary Activity of Kallikrein ISO RGD:1349866 D RGD:7240710 20180130 OMIM 10225368 Klk1 kallikrein 1 gene DOID:9004915 Decreased Urinary Activity of Kallikrein ISO RGD:1349866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kallikrein, decreased urinary activity of PMID:11912256|PMID:15765151 10225368 Klk1 kallikrein 1 gene DOID:9005372 Inflammation ISO RGD:2969 D RGD:9068941 20200609 RGD PMID:17015177|REF_RGD_ID:1641800 10225368 Klk1 kallikrein 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2969 D RGD:9068941 20200609 RGD mRNA:decreased expression:myocardium PMID:10604522|REF_RGD_ID:1641812 10225368 Klk1 kallikrein 1 gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:1349866 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16129698 10225368 Klk1 kallikrein 1 gene DOID:9007692 Insulin Resistance ISO RGD:1349866 D RGD:9068941 20200609 RGD PMID:17272402|REF_RGD_ID:1641794 10226339 Rnasek ribonuclease K gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1604138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 10226339 Rnasek ribonuclease K gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1604138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 10226339 Rnasek ribonuclease K gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1604138 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 10226339 Rnasek ribonuclease K gene DOID:12177 common variable immunodeficiency ISO RGD:1604138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:28492532 10226339 Rnasek ribonuclease K gene DOID:2729 dyskeratosis congenita ISO RGD:1604138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 10228599 Pdcd7 programmed cell death 7 gene DOID:0110935 nemaline myopathy 6 ISO RGD:1319039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 10228599 Pdcd7 programmed cell death 7 gene DOID:2717 Bloom syndrome ISO RGD:1319039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 10228599 Pdcd7 programmed cell death 7 gene DOID:9256 colorectal cancer ISO RGD:1319039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 10230964 CUNH19orf84 chromosome unknown C19orf84 homolog gene DOID:0080600 COVID-19 ISO RGD:7778770 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 10234109 Slfnl1 schlafen like 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1603541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 10234109 Slfnl1 schlafen like 1 gene DOID:0111938 immunodeficiency 24 ISO RGD:1603541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to CTPS1 deficiency PMID:28492532 10235799 Ntng2 netrin G2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1316073 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 10235799 Ntng2 netrin G2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1316073 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 10235799 Ntng2 netrin G2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1316073 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 10235799 Ntng2 netrin G2 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1316073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 10235799 Ntng2 netrin G2 gene DOID:3312 bipolar disorder ISO RGD:1316073 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17507910 10235799 Ntng2 netrin G2 gene DOID:5419 schizophrenia ISO RGD:1316073 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17507910 10235799 Ntng2 netrin G2 gene DOID:630 genetic disease ISO RGD:1316073 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10235799 Ntng2 netrin G2 gene DOID:9000211 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE ISO RGD:1316073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language PMID:25741868|PMID:31668703 10235799 Ntng2 netrin G2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316073 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:31668703|PMID:39825153 10235799 Ntng2 netrin G2 gene DOID:9006418 NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA ISO RGD:1316073 D RGD:7240710 20200115 OMIM 10235799 Ntng2 netrin G2 gene DOID:9006418 NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA ISO RGD:1316073 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia PMID:25741868|PMID:31372774|PMID:31668703|PMID:31692205|PMID:39825153 10235799 Ntng2 netrin G2 gene DOID:9006534 Nervous System Malformations ISO RGD:1316073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 10235799 Ntng2 netrin G2 gene DOID:9008086 Developmental Disabilities ISO RGD:1316073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:31372774|PMID:31692205 10235799 Ntng2 netrin G2 gene DOID:9009239 Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay ISO RGD:1316073 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with macrocephaly, seizures, and speech delay PMID:25741868 10254371 Apoc4 apolipoprotein C4 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:736043 D RGD:9068941 20220908 RGD associated with hepatitis B; PMID:31211449|REF_RGD_ID:153350082 10255180 Proser2 proline and serine rich 2 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1351835 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 10256792 Polr2l RNA polymerase II, I and III subunit L gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1349201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 10256792 Polr2l RNA polymerase II, I and III subunit L gene DOID:0080773 delta beta-thalassemia ISO RGD:1349201 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 10256792 Polr2l RNA polymerase II, I and III subunit L gene DOID:0111969 immunodeficiency 39 ISO RGD:1349201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 10256792 Polr2l RNA polymerase II, I and III subunit L gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1349201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 10256792 Polr2l RNA polymerase II, I and III subunit L gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1349201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 10256792 Polr2l RNA polymerase II, I and III subunit L gene DOID:5572 Beckwith-Wiedemann syndrome ISO RGD:1349201 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome PMID:21910219|PMID:25427884|PMID:28492532 10256792 Polr2l RNA polymerase II, I and III subunit L gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1349201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 10259547 Hapstr2 HUWE1 associated protein modifying stress responses 2 gene DOID:12849 autistic disorder ISO RGD:38668552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 10262063 Zcchc10 zinc finger CCHC-type containing 10 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1317755 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 10262063 Zcchc10 zinc finger CCHC-type containing 10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317755 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 10262063 Zcchc10 zinc finger CCHC-type containing 10 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1317755 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 10265533 Prima1 proline rich membrane anchor 1 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1315672 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy | ClinVar Annotator: match by term: Nocturnal frontal lobe epilepsy PMID:17576681|PMID:25741868|PMID:26339676|PMID:26467025|PMID:28492532|PMID:9536098 10265533 Prima1 proline rich membrane anchor 1 gene DOID:0080054 achondrogenesis type IA ISO RGD:1315672 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 10265533 Prima1 proline rich membrane anchor 1 gene DOID:0081063 DICER1 syndrome ISO RGD:1315672 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:26545620|PMID:26555935|PMID:28492532 10265533 Prima1 proline rich membrane anchor 1 gene DOID:4769 pleuropulmonary blastoma ISO RGD:1315672 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome PMID:26545620|PMID:26555935|PMID:28492532 10265533 Prima1 proline rich membrane anchor 1 gene DOID:9884 muscular dystrophy ISO RGD:1315672 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22906800 10265739 Rab5c RAB5C, member RAS oncogene family gene DOID:0081206 autosomal recessive intellectual developmental disorder 41 ISO RGD:1316083 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Macrocephaly-developmental delay syndrome PMID:25741868 10265739 Rab5c RAB5C, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1316083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 10269103 Znf713 zinc finger protein 713 gene DOID:12849 autistic disorder ISO RGD:1605220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 10269103 Znf713 zinc finger protein 713 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1605220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 10275255 Ankrd65 ankyrin repeat domain 65 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:5508531 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 10275255 Ankrd65 ankyrin repeat domain 65 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:5508531 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 10275255 Ankrd65 ankyrin repeat domain 65 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:5508531 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:23892090|PMID:28492532|PMID:31602316 10275255 Ankrd65 ankyrin repeat domain 65 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:5508531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 10275255 Ankrd65 ankyrin repeat domain 65 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:5508531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 10275255 Ankrd65 ankyrin repeat domain 65 gene DOID:0110994 Joubert syndrome 25 ISO RGD:5508531 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 10275255 Ankrd65 ankyrin repeat domain 65 gene DOID:0111934 immunodeficiency 38 ISO RGD:5508531 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 10275255 Ankrd65 ankyrin repeat domain 65 gene DOID:0111935 immunodeficiency 16 ISO RGD:5508531 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 10275255 Ankrd65 ankyrin repeat domain 65 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:5508531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 10275255 Ankrd65 ankyrin repeat domain 65 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:5508531 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:23892090|PMID:28492532|PMID:31602316 10275255 Ankrd65 ankyrin repeat domain 65 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:5508531 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 10275255 Ankrd65 ankyrin repeat domain 65 gene DOID:9009315 Idiopathic Generalized Epilepsy ISO RGD:5508531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 10276227 Snurf SNRPN upstream open reading frame gene DOID:0060041 autism spectrum disorder ISO RGD:736038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:23495136|PMID:25741868|PMID:27569545|PMID:28492532 10276227 Snurf SNRPN upstream open reading frame gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:736038 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:25741868|PMID:31690835 10276227 Snurf SNRPN upstream open reading frame gene DOID:11983 Prader-Willi syndrome ISO RGD:736038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prader-Willi syndrome PMID:28631899 10276227 Snurf SNRPN upstream open reading frame gene DOID:12849 autistic disorder ISO RGD:736038 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:25741868|PMID:30208311|PMID:31690835 10276227 Snurf SNRPN upstream open reading frame gene DOID:1932 Angelman syndrome ISO RGD:736038 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Angelman syndrome PMID:12210318|PMID:18821858|PMID:22190369|PMID:23495136|PMID:24088041|PMID:25099823|PMID:25212744|PMID:25741868|PMID:25884337|PMID:26633545|PMID:28492532|PMID:38177409 10276227 Snurf SNRPN upstream open reading frame gene DOID:5419 schizophrenia ISO RGD:736038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 10276227 Snurf SNRPN upstream open reading frame gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 10277301 Chst13 carbohydrate sulfotransferase 13 gene DOID:0060041 autism spectrum disorder ISO RGD:1347829 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 10277301 Chst13 carbohydrate sulfotransferase 13 gene DOID:0080600 COVID-19 ISO RGD:1347829 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 10277301 Chst13 carbohydrate sulfotransferase 13 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1347829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 10277301 Chst13 carbohydrate sulfotransferase 13 gene DOID:9270 alkaptonuria ISO RGD:1347829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:0050475 Weill-Marchesani syndrome ISO RGD:68549 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Weill-Marchesani syndrome PMID:17576681|PMID:19656777|PMID:22924778|PMID:23218701|PMID:23378721|PMID:23401661|PMID:25741868|PMID:26425313|PMID:27293371|PMID:28492532|PMID:35170016|PMID:9536098 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:0050593 primary congenital glaucoma ISO RGD:68549 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Primary congenital glaucoma PMID:25741868|PMID:28492532 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:0060305 megalocornea ISO RGD:68549 D RGD:9068941 20230309 RGD associated with glaucoma;DNA:missense mutation:CDS:p.C1438Y (human) PMID:22025892|REF_RGD_ID:156451371 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:0111150 autosomal dominant isolated ectopia lentis 1 ISO RGD:68549 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Ectopia lentis 1, isolated, autosomal dominant PMID:23218701|PMID:23401661|PMID:25741868|PMID:28492532 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:1059 intellectual disability ISO RGD:68549 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:1068 juvenile glaucoma ISO RGD:68549 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Glaucoma of childhood PMID:19361779|PMID:19656777|PMID:22025892|PMID:24033266|PMID:28492532 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:1070 primary open angle glaucoma ISO RGD:68549 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary open angle glaucoma PMID:23401661|PMID:25741868|PMID:26425313|PMID:28492532 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:11211 buphthalmos ISO RGD:68549 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A PMID:19656777 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:12930 dilated cardiomyopathy treatment ISO RGD:68380 D RGD:9068941 20230309 RGD PMID:31512380|REF_RGD_ID:156431214 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:13641 exfoliation syndrome ISO RGD:68549 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pseudoexfoliation glaucoma PMID:23401661|PMID:25741868|PMID:28492532 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:14199 posterior dislocation of lens ISO RGD:68550 D RGD:9068941 20230309 RGD PMID:24908666|REF_RGD_ID:156451375 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:14323 Marfan syndrome ISO RGD:68549 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfan syndrome 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:1686 glaucoma ISO RGD:68549 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19361779|PMID:27149523 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:6000 congestive heart failure ISO RGD:68549 D RGD:9068941 20230309 RGD associated with dyspnea;protein:increased expression:plasma (human) PMID:22587491|REF_RGD_ID:156451376 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:6000 congestive heart failure ISO RGD:68549 D RGD:9068941 20230323 RGD mRNA:increased expression:heart (human) PMID:32478206|REF_RGD_ID:213230162 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:630 genetic disease ISO RGD:68549 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:9000669 Ventricular Dysfunction, Right ISO RGD:68380 D RGD:9068941 20230309 RGD associated with Pulmonary Arterial Hypertension;mRNA:increased expression:heart right ventricle (rat) PMID:30213070|REF_RGD_ID:156451373 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:9001251 Microspherophakia ISO RGD:68549 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Microspherophakia PMID:19361779|PMID:19656777|PMID:20179738|PMID:20617341|PMID:21081970|PMID:22025892|PMID:25741868|PMID:27409795|PMID:28492532 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:9002998 Weill-Marchesani Syndrome 1 ISO RGD:68549 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Weill-Marchesani syndrome 1 PMID:22539340 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:9003139 Cardiac Fibrosis ISO RGD:68550 D RGD:9068941 20230309 RGD mRNA:increased expression:heart (mouse) PMID:29950403|REF_RGD_ID:156451654 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:9003580 Primary Congenital Glaucoma 3, D ISO RGD:68549 D RGD:7240710 20180130 OMIM 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:9003580 Primary Congenital Glaucoma 3, D ISO RGD:68549 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Glaucoma 3, primary congenital, D | ClinVar Annotator: match by term: Glaucoma 3, primary congenital, d PMID:17576681|PMID:19361779|PMID:19656777|PMID:20179738|PMID:21081970|PMID:22025892|PMID:22924778|PMID:23218701|PMID:23378721|PMID:23401661|PMID:25741868|PMID:26425313|PMID:27293371|PMID:27409795|PMID:28492532|PMID:35170016|PMID:9536098 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:9003936 Cardiomegaly ISO RGD:68550 D RGD:9068941 20230323 RGD mRNA:increased expression:heart (mouse) PMID:29510080|REF_RGD_ID:213230163 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:9004201 Ectopia Lentis ISO RGD:68550 D RGD:9068941 20230309 RGD PMID:33039488|REF_RGD_ID:156431213 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:9006438 Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or without Secondary Glaucoma ISO RGD:68549 D RGD:7240710 20180130 OMIM 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:9006438 Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or without Secondary Glaucoma ISO RGD:68549 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma PMID:17576681|PMID:19361779|PMID:19656777|PMID:20179738|PMID:21081970|PMID:22025892|PMID:23401661|PMID:25741868|PMID:28492532|PMID:9536098 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:68549 D RGD:9068941 20230309 RGD mRNA:increased expression:myocardium (human) PMID:17343875|REF_RGD_ID:156451374 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:9007147 Glaucoma 3, Primary Infantile, B ISO RGD:68549 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Glaucoma 3, primary infantile, B | ClinVar Annotator: match by term: Primary congenital glaucoma type 3B PMID:16199547|PMID:17576681|PMID:19361779|PMID:22025892|PMID:23401661|PMID:25741868|PMID:27409795|PMID:28492532|PMID:9536098 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:9007174 Ventricular Remodeling ISO RGD:68550 D RGD:9068941 20230323 RGD mRNA:increased expression:heart (mouse) PMID:31364721|REF_RGD_ID:213230159 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:9007248 Weill-Marchesani Syndrome 3 ISO RGD:68549 D RGD:7240710 20180130 OMIM 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:9007248 Weill-Marchesani Syndrome 3 ISO RGD:68549 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Weill-Marchesani syndrome 3 PMID:17576681|PMID:22539340|PMID:23401661|PMID:25741868|PMID:28492532|PMID:9536098 10280215 Sycp3 synaptonemal complex protein 3 gene DOID:0070176 spermatogenic failure 4 ISO RGD:733070 D RGD:7240710 20180130 OMIM 10280215 Sycp3 synaptonemal complex protein 3 gene DOID:0070176 spermatogenic failure 4 ISO RGD:733070 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 4 PMID:14643120|PMID:19110213|PMID:25741868|PMID:28492532|PMID:28801929|PMID:29713536 10280215 Sycp3 synaptonemal complex protein 3 gene DOID:0111910 spermatogenic failure ISO RGD:733070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic Failure 10280215 Sycp3 synaptonemal complex protein 3 gene DOID:12336 male infertility ISO RGD:733070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Male infertility 10280215 Sycp3 synaptonemal complex protein 3 gene DOID:14227 azoospermia ISO RGD:11368 D RGD:9068941 20221103 MouseDO OMIM:102530 | OMIM:108420 | OMIM:243060 | OMIM:258150 | OMIM:270960 | OMIM:309120 | OMIM:415000 | OMIM:606766 | OMIM:612997 | OMIM:613957 | OMIM:613958 | OMIM:614822 | OMIM:615081 | OMIM:615413 | OMIM:615841 | OMIM:615842 10280215 Sycp3 synaptonemal complex protein 3 gene DOID:14227 azoospermia ISO RGD:733070 D RGD:9068941 20221103 CTD CTD Direct Evidence: marker/mechanism PMID:14643120 10280215 Sycp3 synaptonemal complex protein 3 gene DOID:9007479 Habitual Abortions ISO RGD:733070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19110213 10285507 Alg14 ALG14 UDP-N-acetylglucosaminyltransferase subunit gene DOID:0080600 COVID-19 ISO RGD:1604512 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 10285507 Alg14 ALG14 UDP-N-acetylglucosaminyltransferase subunit gene DOID:0081337 congenital myopathy ISO RGD:1604512 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Congenital myopathy PMID:16199547|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28733338 10285507 Alg14 ALG14 UDP-N-acetylglucosaminyltransferase subunit gene DOID:0110658 congenital myasthenic syndrome 15 ISO RGD:1604512 D RGD:7240710 20180130 OMIM 10285507 Alg14 ALG14 UDP-N-acetylglucosaminyltransferase subunit gene DOID:0110658 congenital myasthenic syndrome 15 ISO RGD:1604512 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 15 | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 15, without tubular aggregates PMID:16199547|PMID:17576681|PMID:23404334|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28733338|PMID:33751823|PMID:9536098 10285507 Alg14 ALG14 UDP-N-acetylglucosaminyltransferase subunit gene DOID:3635 congenital myasthenic syndrome ISO RGD:1604512 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 10285507 Alg14 ALG14 UDP-N-acetylglucosaminyltransferase subunit gene DOID:630 genetic disease ISO RGD:1604512 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:28733338|PMID:9536098 10285507 Alg14 ALG14 UDP-N-acetylglucosaminyltransferase subunit gene DOID:9003980 Myopathy, Epilepsy, and Progressive Cerebral Atrophy ISO RGD:1604512 D RGD:7240710 20201021 OMIM 10285507 Alg14 ALG14 UDP-N-acetylglucosaminyltransferase subunit gene DOID:9003980 Myopathy, Epilepsy, and Progressive Cerebral Atrophy ISO RGD:1604512 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Myopathy, epilepsy, and progressive cerebral atrophy PMID:17576681|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28733338|PMID:33751823|PMID:9536098 10287539 Il17d interleukin 17D gene DOID:0081312 T-cell non-Hodgkin lymphoma severity ISO RGD:1558575 D RGD:9068941 20210108 RGD PMID:31244826|REF_RGD_ID:40903065 10287539 Il17d interleukin 17D gene DOID:0110253 cataract 14 multiple types ISO RGD:1348652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 14 multiple types PMID:28492532 10287539 Il17d interleukin 17D gene DOID:0110475 autosomal recessive nonsyndromic deafness 1A ISO RGD:1348652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1A PMID:28492532 10287539 Il17d interleukin 17D gene DOID:0110476 autosomal recessive nonsyndromic deafness 1B ISO RGD:1348652 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1b PMID:28492532 10287539 Il17d interleukin 17D gene DOID:0110565 autosomal dominant nonsyndromic deafness 3B ISO RGD:1348652 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 3b PMID:28492532 10287539 Il17d interleukin 17D gene DOID:11573 listeriosis severity ISO RGD:1558575 D RGD:9068941 20210108 RGD PMID:31244826|REF_RGD_ID:40903065 10287539 Il17d interleukin 17D gene DOID:14693 Clouston syndrome ISO RGD:1348652 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Clouston's hidrotic ectodermal dysplasia PMID:28492532 10287539 Il17d interleukin 17D gene DOID:1909 melanoma severity ISO RGD:1558575 D RGD:9068941 20210108 RGD PMID:31244826|REF_RGD_ID:40903065 10287539 Il17d interleukin 17D gene DOID:2121 ectodermal dysplasia ISO RGD:1348652 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia PMID:28492532 10287539 Il17d interleukin 17D gene DOID:2280 hidradenitis suppurativa sexual_dimorphism ISO RGD:1348652 D RGD:9068941 20210625 RGD mRNA:increased expression:apocrine gland (human) PMID:32031713|REF_RGD_ID:40903066 10287539 Il17d interleukin 17D gene DOID:526 human immunodeficiency virus infectious disease severity ISO RGD:1348652 D RGD:9068941 20210108 RGD Protein:increased expression:blood plasma (human) PMID:28592538|REF_RGD_ID:40903074 10287539 Il17d interleukin 17D gene DOID:9004017 Chronic Hepatitis C severity ISO RGD:1348652 D RGD:9068941 20210108 RGD associated with human immunodeficiency virus infectious disease;mRNA:increased expression:blood plasma (human) PMID:27875997|REF_RGD_ID:40903073 10287539 Il17d interleukin 17D gene DOID:9004484 Sepsis severity ISO RGD:1558575 D RGD:9068941 20210108 RGD PMID:31634237|REF_RGD_ID:40903064 10287539 Il17d interleukin 17D gene DOID:9004484 Sepsis treatment ISO RGD:1348652 D RGD:9068941 20210108 RGD protein:increased expression:blood serum (human) PMID:31634237|REF_RGD_ID:40903064 10287539 Il17d interleukin 17D gene DOID:9004484 Sepsis treatment ISO RGD:1558575 D RGD:9068941 20210108 RGD PMID:31634237|REF_RGD_ID:40903064 10287539 Il17d interleukin 17D gene DOID:9006262 Cytomegalovirus Infections severity ISO RGD:1558575 D RGD:9068941 20210108 RGD PMID:30209334|REF_RGD_ID:40903063 10288224 Znf41 zinc finger protein 41 gene DOID:0050776 non-syndromic X-linked intellectual disability ISO RGD:1346984 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability PMID:25741868 10288224 Znf41 zinc finger protein 41 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 10288224 Znf41 zinc finger protein 41 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1346984 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 10288224 Znf41 zinc finger protein 41 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1346984 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 10288224 Znf41 zinc finger protein 41 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1346984 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 10288224 Znf41 zinc finger protein 41 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1346984 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:14985377|PMID:21441247|PMID:28492532 10288224 Znf41 zinc finger protein 41 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1346984 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 10288224 Znf41 zinc finger protein 41 gene DOID:12849 autistic disorder ISO RGD:1346984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 10288224 Znf41 zinc finger protein 41 gene DOID:1561 cognitive disorder ISO RGD:1346984 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14628291 10288224 Znf41 zinc finger protein 41 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1346984 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14628291 10288224 Znf41 zinc finger protein 41 gene DOID:9008086 Developmental Disabilities ISO RGD:1346984 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 10289125 Tspan18 tetraspanin 18 gene DOID:1059 intellectual disability ISO RGD:1605907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 10289125 Tspan18 tetraspanin 18 gene DOID:5419 schizophrenia ISO RGD:1605907 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22037552 10291915 Defb134 defensin beta 134 gene DOID:14004 thoracic aortic aneurysm ISO RGD:2302256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm PMID:32748548 10291915 Defb134 defensin beta 134 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2302256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 10295339 Icam4 intercellular adhesion molecule 4 (Landsteiner-Wiener blood group) gene DOID:0111989 immunodeficiency 35 ISO RGD:1319054 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Immunodeficiency 35 PMID:22402565|PMID:26304966|PMID:28492532 10295339 Icam4 intercellular adhesion molecule 4 (Landsteiner-Wiener blood group) gene DOID:13810 familial hypercholesterolemia ISO RGD:1319054 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia PMID:20809525|PMID:21382890|PMID:28492532|PMID:28645073 10300641 Fads1 fatty acid desaturase 1 gene DOID:0080600 COVID-19 ISO RGD:1344024 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 10300641 Fads1 fatty acid desaturase 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1344024 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 10300641 Fads1 fatty acid desaturase 1 gene DOID:1059 intellectual disability ISO RGD:1344024 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 10300641 Fads1 fatty acid desaturase 1 gene DOID:10763 hypertension ISO RGD:621678 D RGD:9068941 20200609 RGD PMID:12144877|REF_RGD_ID:1625415 10300641 Fads1 fatty acid desaturase 1 gene DOID:6000 congestive heart failure treatment ISO RGD:621678 D RGD:9068941 20231214 RGD PMID:22796714|REF_RGD_ID:401901592 10300641 Fads1 fatty acid desaturase 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1344024 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 10300641 Fads1 fatty acid desaturase 1 gene DOID:9003139 Cardiac Fibrosis treatment ISO RGD:621678 D RGD:9068941 20231214 RGD PMID:22796714|REF_RGD_ID:401901592 10300641 Fads1 fatty acid desaturase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621678 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:16099631|REF_RGD_ID:1625413 10300641 Fads1 fatty acid desaturase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1344024 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 10300641 Fads1 fatty acid desaturase 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1344024 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24836286 10300641 Fads1 fatty acid desaturase 1 gene DOID:9970 obesity ISO RGD:621678 D RGD:9068941 20200609 RGD protein:decreased expression:microsomes, liver PMID:8446010|REF_RGD_ID:1625421 10304093 Svip small VCP interacting protein gene DOID:1059 intellectual disability ISO RGD:2306136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 10304104 Cdr1 cerebellar degeneration related 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 10304104 Cdr1 cerebellar degeneration related 1 gene DOID:0111823 autosomal hemophilia A ISO RGD:1345930 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A PMID:31690835 10304104 Cdr1 cerebellar degeneration related 1 gene DOID:12134 factor VIII deficiency ISO RGD:1345930 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Factor 8 deficiency, congenital PMID:31690835 10304104 Cdr1 cerebellar degeneration related 1 gene DOID:12849 autistic disorder ISO RGD:1345930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 10308184 Fbn3 fibrillin 3 gene DOID:0080490 mucolipidosis type IV ISO RGD:1350241 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 10308184 Fbn3 fibrillin 3 gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1350241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 10308184 Fbn3 fibrillin 3 gene DOID:12849 autistic disorder ISO RGD:1350241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 10308184 Fbn3 fibrillin 3 gene DOID:2513 basal cell carcinoma ISO RGD:1350241 D RGD:9068941 20240912 CTD CTD Direct Evidence: marker/mechanism PMID:36428691 10308184 Fbn3 fibrillin 3 gene DOID:9006836 Contracture ISO RGD:1350241 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Contractures PMID:26752647|PMID:28492532 10308939 Rsc1a1 regulator of solute carriers 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1349878 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 10308939 Rsc1a1 regulator of solute carriers 1 gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1349878 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary pancreatitis PMID:23721890|PMID:28492532 10308939 Rsc1a1 regulator of solute carriers 1 gene DOID:9970 obesity ISO RGD:1615861 D RGD:9068941 20220825 MouseDO OMIM:601665 10309212 Abhd16b abhydrolase domain containing 16B gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1320221 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:14534157|PMID:19822871|PMID:23360469|PMID:23692823|PMID:24811917|PMID:25052858|PMID:25921748|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059 10309212 Abhd16b abhydrolase domain containing 16B gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1320221 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 10309212 Abhd16b abhydrolase domain containing 16B gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1320221 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 10309212 Abhd16b abhydrolase domain containing 16B gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1320221 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 10309212 Abhd16b abhydrolase domain containing 16B gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1320221 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:14534157|PMID:19822871|PMID:23360469|PMID:23692823|PMID:24811917|PMID:25052858|PMID:25921748|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059 10309212 Abhd16b abhydrolase domain containing 16B gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1320221 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 10309212 Abhd16b abhydrolase domain containing 16B gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1320221 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:14534157|PMID:19822871|PMID:23360469|PMID:23692823|PMID:24811917|PMID:25921748|PMID:27779742|PMID:28492532|PMID:30866059 10312353 Gng5 G protein subunit gamma 5 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737441 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 10314245 H6pd hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1315252 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 10314245 H6pd hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1315252 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 10314245 H6pd hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase gene DOID:0090139 cortisone reductase deficiency ISO RGD:1315252 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 10314245 H6pd hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase gene DOID:0090139 cortisone reductase deficiency ISO RGD:1315252 D RGD:9068941 20200609 RGD DNA:point mutation:CDS:p.R453Q (human) PMID:12858176|REF_RGD_ID:1625067 10314245 H6pd hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase gene DOID:0090141 cortisone reductase deficiency 1 ISO RGD:1315252 D RGD:7240710 20180802 OMIM 10314245 H6pd hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase gene DOID:0090141 cortisone reductase deficiency 1 ISO RGD:1315252 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cortisone reductase deficiency 1 | ClinVar Annotator: match by term: H6PD-related condition PMID:10522997|PMID:11150889|PMID:12858176|PMID:15827106|PMID:16091483|PMID:16356929|PMID:16817821|PMID:17062770|PMID:18628520|PMID:25741868|PMID:28492532 10314245 H6pd hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase gene DOID:2377 multiple sclerosis ISO RGD:1315252 D RGD:9068941 20200609 RGD DNA:SNP:exon: rs17368528 (human) PMID:19935835|REF_RGD_ID:6784513 10314245 H6pd hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase gene DOID:630 genetic disease ISO RGD:1315252 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10314245 H6pd hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 10314245 H6pd hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1306562 D RGD:9068941 20200609 RGD PMID:20923496|REF_RGD_ID:6784507 10314245 H6pd hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase gene DOID:9008939 Breast Neoplasms ISO RGD:1315252 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29295867 10316752 Tmsb4x thymosin beta 4 X-linked gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:736781 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 10316752 Tmsb4x thymosin beta 4 X-linked gene DOID:0110980 Joubert syndrome 1 ISO RGD:736781 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:11349230|PMID:16783569|PMID:18546297|PMID:23033313|PMID:27081566|PMID:28492532 10316752 Tmsb4x thymosin beta 4 X-linked gene DOID:12849 autistic disorder ISO RGD:736781 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 10316752 Tmsb4x thymosin beta 4 X-linked gene DOID:9002304 Prostatic Neoplasms ISO RGD:736781 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17916567 10316752 Tmsb4x thymosin beta 4 X-linked gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736781 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 10317829 Ska2 spindle and kinetochore associated complex subunit 2 gene DOID:0050436 mulibrey nanism ISO RGD:1316064 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mulibrey nanism syndrome PMID:21681106 10317829 Ska2 spindle and kinetochore associated complex subunit 2 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1316064 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 10320437 Fam171a2 family with sequence similarity 171 member A2 gene DOID:0060672 GRN-related frontotemporal lobar degeneration with TDP43 inclusions ISO RGD:2298821 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions PMID:16862116|PMID:16950801|PMID:18855025|PMID:19012866|PMID:21569259|PMID:21753165|PMID:22608501|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31361008|PMID:31600775|PMID:34162492|PMID:9152110|PMID:9259373 10320437 Fam171a2 family with sequence similarity 171 member A2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:2298821 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 PMID:38922859 10322056 Sox4 SRY-box transcription factor 4 gene DOID:0060058 lymphoma ISO RGD:1319855 D RGD:9068941 20200609 RGD PMID:15231650|REF_RGD_ID:1581305 10322056 Sox4 SRY-box transcription factor 4 gene DOID:0070042 Coffin-Siris syndrome 1 ISO RGD:1319854 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome 1 PMID:25741868 10322056 Sox4 SRY-box transcription factor 4 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1319854 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 10322056 Sox4 SRY-box transcription factor 4 gene DOID:0112371 Coffin-Siris syndrome 10 ISO RGD:1319854 D RGD:7240710 20190731 OMIM 10322056 Sox4 SRY-box transcription factor 4 gene DOID:0112371 Coffin-Siris syndrome 10 ISO RGD:1319854 D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome 10 | ClinVar Annotator: match by term: SOX4-related condition PMID:25741868|PMID:28492532|PMID:30661772|PMID:35232796|PMID:35887114|PMID:36307859|PMID:36834931 10322056 Sox4 SRY-box transcription factor 4 gene DOID:1059 intellectual disability ISO RGD:1319854 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild PMID:30661772 10322056 Sox4 SRY-box transcription factor 4 gene DOID:11054 urinary bladder cancer ISO RGD:1319854 D RGD:9068941 20200609 RGD PMID:16585165|REF_RGD_ID:1581304 10322056 Sox4 SRY-box transcription factor 4 gene DOID:114 heart disease ISO RGD:1319855 D RGD:9068941 20200609 RGD PMID:9815146|REF_RGD_ID:1581306 10322056 Sox4 SRY-box transcription factor 4 gene DOID:1923 disorder of sexual development ISO RGD:1319854 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 10322056 Sox4 SRY-box transcription factor 4 gene DOID:2513 basal cell carcinoma ISO RGD:1319854 D RGD:9068941 20240606 CTD CTD Direct Evidence: marker/mechanism PMID:36428691 10322056 Sox4 SRY-box transcription factor 4 gene DOID:3459 breast carcinoma ISO RGD:1319854 D RGD:9068941 20220728 RGD protein:increased expression:breast PMID:29882245|REF_RGD_ID:153297792 10322056 Sox4 SRY-box transcription factor 4 gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:1319854 D RGD:9068941 20220728 RGD PMID:16052521|REF_RGD_ID:153297793 10322056 Sox4 SRY-box transcription factor 4 gene DOID:3910 lung adenocarcinoma ISO RGD:1319854 D RGD:9068941 20220728 RGD protein:increased expression:lung PMID:29882245|REF_RGD_ID:153297792 10322056 Sox4 SRY-box transcription factor 4 gene DOID:6000 congestive heart failure ISO RGD:1319854 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 10322056 Sox4 SRY-box transcription factor 4 gene DOID:630 genetic disease ISO RGD:1319854 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:30661772|PMID:35232796 10322056 Sox4 SRY-box transcription factor 4 gene DOID:9001041 Asphyxia ISO RGD:1309488 D RGD:9068941 20200609 RGD PMID:12011571|REF_RGD_ID:1581119 10322056 Sox4 SRY-box transcription factor 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1319854 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 10322056 Sox4 SRY-box transcription factor 4 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1319854 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21147764 10322056 Sox4 SRY-box transcription factor 4 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1319854 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 10322056 Sox4 SRY-box transcription factor 4 gene DOID:9003936 Cardiomegaly ISO RGD:1319854 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 10322056 Sox4 SRY-box transcription factor 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319854 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 10323072 Ct55 cancer/testis antigen 55 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353544 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 10323072 Ct55 cancer/testis antigen 55 gene DOID:0070598 X-linked spermatogenic failure 7 ISO RGD:1353544 D RGD:7240710 20230505 OMIM 10323072 Ct55 cancer/testis antigen 55 gene DOID:0070598 X-linked spermatogenic failure 7 ISO RGD:1353544 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Spermatogenic failure, X-linked, 7 PMID:36481789 10323072 Ct55 cancer/testis antigen 55 gene DOID:0111823 autosomal hemophilia A ISO RGD:1353544 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A PMID:31690835 10323072 Ct55 cancer/testis antigen 55 gene DOID:12134 factor VIII deficiency ISO RGD:1353544 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Factor 8 deficiency, congenital PMID:31690835 10323072 Ct55 cancer/testis antigen 55 gene DOID:12849 autistic disorder ISO RGD:1353544 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1349422 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular PMID:10480214|PMID:11748843|PMID:11968085|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17546640|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24098143|PMID:24365856|PMID:24962355|PMID:25817843|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:0050476 Barth syndrome ISO RGD:1349422 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11379875|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:18177777|PMID:18627054|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:35384376|PMID:9384614 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:0050781 Ogden syndrome ISO RGD:1349422 D RGD:7240710 20180130 OMIM 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:0050781 Ogden syndrome ISO RGD:1349422 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Ogden syndrome PMID:18414213|PMID:21700266|PMID:23020937|PMID:24431331|PMID:25099252|PMID:25326635|PMID:25489052|PMID:25741868|PMID:26522270|PMID:27094817|PMID:28327206|PMID:28492532|PMID:28708303|PMID:29558889|PMID:29957440|PMID:31127942|PMID:31174490|PMID:34200686|PMID:35039925|PMID:36810866|PMID:39825153 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:0050800 cerebral creatine deficiency syndrome 1 ISO RGD:1349422 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11379875|PMID:11748843|PMID:11968085|PMID:15351775|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17088400|PMID:17172942|PMID:18047645|PMID:18177777|PMID:18627054|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:22578097|PMID:22659343|PMID:23220634|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:26930212|PMID:28492532|PMID:29334594|PMID:35384376|PMID:9384614 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:0060165 Kleine-Levin syndrome ISO RGD:1349422 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kleine-Levin syndrome 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349422 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845|PMID:31690835 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:0111784 otopalatodigital syndrome type 2 ISO RGD:1349422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II PMID:15689435|PMID:16080119|PMID:28492532 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:0111785 frontometaphyseal dysplasia ISO RGD:1349422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontometaphyseal dysplasia PMID:15689435|PMID:16080119|PMID:28492532 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:0111788 Melnick-Needles syndrome ISO RGD:1349422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles PMID:15689435|PMID:16080119|PMID:28492532 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:0111799 syndromic microphthalmia 1 ISO RGD:1349422 D RGD:7240710 20180130 OMIM 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:0111799 syndromic microphthalmia 1 ISO RGD:1349422 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Microphthalmia, syndromic 1 | ClinVar Annotator: match by term: NAA10-related condition PMID:11426460|PMID:16114045|PMID:1679229|PMID:21700266|PMID:23020937|PMID:24033266|PMID:24431331|PMID:25099252|PMID:25489052|PMID:25741868|PMID:26522270|PMID:27094817|PMID:28492532|PMID:29957440|PMID:30842225|PMID:31127942|PMID:31174490|PMID:34200686|PMID:37130971|PMID:39012200 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:0111814 methylmalonic acidemia and homocysteinemia cblX type ISO RGD:1349422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 PMID:15689435|PMID:16080119|PMID:28492532 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:0111823 autosomal hemophilia A ISO RGD:1349422 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A PMID:31690835 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1349422 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:12180070|PMID:15351775|PMID:15689435|PMID:15841480|PMID:16080119|PMID:17088400|PMID:17172942|PMID:18047645|PMID:18562171|PMID:22578097|PMID:22659343|PMID:22679399|PMID:23220634|PMID:23810759|PMID:26930212|PMID:28492532 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:0112003 immunodeficiency 33 ISO RGD:1349422 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:10588 adrenoleukodystrophy ISO RGD:1349422 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11379875|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:18177777|PMID:18627054|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:35384376|PMID:9384614 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:1059 intellectual disability ISO RGD:1349422 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe | ClinVar Annotator: match by term: intellectual disabilities PMID:18414213|PMID:24033266|PMID:24431331|PMID:25741868|PMID:26522270|PMID:27094817|PMID:28492532|PMID:31088393|PMID:31127942|PMID:31174490|PMID:34200686|PMID:35039925|PMID:39825153 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1349422 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11379875|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:18177777|PMID:18627054|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:35384376|PMID:9384614 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:12134 factor VIII deficiency ISO RGD:1349422 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Factor 8 deficiency, congenital PMID:31690835 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:12849 autistic disorder ISO RGD:1349422 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:13628 favism ISO RGD:1349422 D RGD:8554872 20240716 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:10480214|PMID:11379875|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:18177777|PMID:18627054|PMID:19396829|PMID:19846429|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:28492532|PMID:35384376|PMID:9384614 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:2729 dyskeratosis congenita ISO RGD:1349422 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:10480214|PMID:11379875|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:18177777|PMID:18627054|PMID:19396829|PMID:19846429|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:28492532|PMID:35384376|PMID:9384614 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:3910 lung adenocarcinoma ISO RGD:1349422 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:607 paraplegia ISO RGD:1349422 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11379875|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:18177777|PMID:18627054|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23184456|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:35384376|PMID:9384614 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:630 genetic disease ISO RGD:1349422 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24431331|PMID:25741868|PMID:26522270|PMID:27094817|PMID:28492532|PMID:31127942|PMID:31174490|PMID:34200686|PMID:36810866|PMID:37130971|PMID:39012200 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:9002720 Splenomegaly ISO RGD:1349422 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349422 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:24033266|PMID:25741868 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:9005082 Periventricular Nodular Heterotopia 4 ISO RGD:1349422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PERIVENTRICULAR NODULAR HETEROTOPIA 4 PMID:15689435|PMID:16080119|PMID:28492532 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:9005190 Juberg Hayward Syndrome ISO RGD:1349422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cranio-oro-digital syndrome PMID:15689435|PMID:16080119|PMID:28492532 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:9005521 Chromosome Xq28 Duplication Syndrome ISO RGD:1349422 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:9006205 Animal Disease Models ISO RGD:1349422 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 10332444 Taf9 TATA-box binding protein associated factor 9 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1314621 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 10332444 Taf9 TATA-box binding protein associated factor 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 10332758 Lsm11 LSM11, U7 small nuclear RNA associated gene DOID:9001117 Aicardi-Goutieres Syndrome 8 ISO RGD:1354131 D RGD:7240710 20210825 OMIM 10332758 Lsm11 LSM11, U7 small nuclear RNA associated gene DOID:9001117 Aicardi-Goutieres Syndrome 8 ISO RGD:1354131 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 8 PMID:33230297 10335251 Tlr9 toll like receptor 9 gene DOID:0050127 sinusitis ISO RGD:1346715 D RGD:9068941 20200609 RGD Acute Sinusitis; protein:decreased expression:nasal mucosa, epithelial cell (human) PMID:18416964|REF_RGD_ID:5130708 10335251 Tlr9 toll like receptor 9 gene DOID:0050127 sinusitis ISO RGD:1346715 D RGD:9068941 20200609 RGD Chronic Sinusitis; protein:decreased expression:nasal mucosa, epithelial cell (human) PMID:17283572|REF_RGD_ID:5130870 10335251 Tlr9 toll like receptor 9 gene DOID:0080158 herpes simplex virus keratitis ISO RGD:1549988 D RGD:9068941 20200609 RGD PMID:17686871|REF_RGD_ID:7794851 10335251 Tlr9 toll like receptor 9 gene DOID:0080162 lupus nephritis ISO RGD:1346715 D RGD:9068941 20200609 RGD DNA:snps:intron, exon:g.+1174G>A, g.+1635C>T (rs352139, rs352140) (human, Chinese) PMID:20497632|REF_RGD_ID:7246884 10335251 Tlr9 toll like receptor 9 gene DOID:0080162 lupus nephritis ISO RGD:1346715 D RGD:9068941 20200609 RGD protein:increased expression:renal glomerulus (human) PMID:19578108|REF_RGD_ID:7246896 10335251 Tlr9 toll like receptor 9 gene DOID:0080162 lupus nephritis ISO RGD:1549988 D RGD:9068941 20200609 RGD PMID:23467932|REF_RGD_ID:7245987 10335251 Tlr9 toll like receptor 9 gene DOID:0080162 lupus nephritis no_association ISO RGD:1346715 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic; DNA:snps:promoter, intron:g.-1486T>C, g.+1174A>G (rs187084, rs352139) (human, North Indian) PMID:22787315|REF_RGD_ID:7245989 10335251 Tlr9 toll like receptor 9 gene DOID:0080162 lupus nephritis severity ISO RGD:1549988 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney (mouse) PMID:17469139|REF_RGD_ID:7246911 10335251 Tlr9 toll like receptor 9 gene DOID:0080162 lupus nephritis treatment ISO RGD:1549988 D RGD:9068941 20200609 RGD associated with Graft vs Host Disease PMID:21127878|REF_RGD_ID:7246897 10335251 Tlr9 toll like receptor 9 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:1346715 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (human, mouse) PMID:28687713|REF_RGD_ID:18337289 10335251 Tlr9 toll like receptor 9 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:1549988 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (human, mouse) PMID:28687713|REF_RGD_ID:18337289 10335251 Tlr9 toll like receptor 9 gene DOID:0080547 metabolic dysfunction-associated steatohepatitis disease_progression ISO RGD:1549988 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:serum, liver (mouse) PMID:24650018|REF_RGD_ID:18337469 10335251 Tlr9 toll like receptor 9 gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1346715 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 10335251 Tlr9 toll like receptor 9 gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:631352 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:pancreas (rat) PMID:18376319|REF_RGD_ID:5130184 10335251 Tlr9 toll like receptor 9 gene DOID:10113 trypanosomiasis ISO RGD:1549988 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (mouse) PMID:18565585|REF_RGD_ID:18337478 10335251 Tlr9 toll like receptor 9 gene DOID:10223 dermatomyositis ISO RGD:1346715 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:muscle PMID:19953283|REF_RGD_ID:7794747 10335251 Tlr9 toll like receptor 9 gene DOID:10457 Legionnaires' disease ISO RGD:1549988 D RGD:9068941 20200609 RGD PMID:18426877|REF_RGD_ID:5130707 10335251 Tlr9 toll like receptor 9 gene DOID:10533 viral pneumonia ISO RGD:1346715 D RGD:9068941 20200609 RGD DNA:SNP:promoter:g.-1237T>C rs5743836 (human) PMID:19539691|REF_RGD_ID:5130766 10335251 Tlr9 toll like receptor 9 gene DOID:10690 mastitis resistance ISO RGD:631352 D RGD:9068941 20200609 RGD mRNA:increased expression:mammary gland (rat) PMID:17321466|REF_RGD_ID:5130197 10335251 Tlr9 toll like receptor 9 gene DOID:11166 papillomavirus infectious disease resistance ISO RGD:1346715 D RGD:9068941 20200609 RGD mRNA:increased expression:cervix epithelium (human) PMID:20473890|REF_RGD_ID:5129102 10335251 Tlr9 toll like receptor 9 gene DOID:11168 anogenital venereal wart ISO RGD:1346715 D RGD:9068941 20201105 RGD mRNA,protein:increased expression:multiple (human) PMID:23754510|REF_RGD_ID:40400714 10335251 Tlr9 toll like receptor 9 gene DOID:11204 allergic conjunctivitis ISO RGD:1346715 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:conjunctiva: PMID:16023216|REF_RGD_ID:7794849 10335251 Tlr9 toll like receptor 9 gene DOID:11394 adult respiratory distress syndrome ISO RGD:1549988 D RGD:9068941 20200609 RGD PMID:17925007|REF_RGD_ID:5130709 10335251 Tlr9 toll like receptor 9 gene DOID:12236 primary biliary cholangitis ISO RGD:1346715 D RGD:9068941 20200609 RGD protein:increased expression:liver, peripheral blood mononuclear cell (human) PMID:23026026|REF_RGD_ID:18337477 10335251 Tlr9 toll like receptor 9 gene DOID:1287 cardiovascular system disease ISO RGD:1346715 D RGD:9068941 20200609 RGD associated with kidney transplant; DNA:snp:promoter:g.-1237C>T rs5743836 (human) PMID:20604744|REF_RGD_ID:7246901 10335251 Tlr9 toll like receptor 9 gene DOID:13139 crescentic glomerulonephritis severity ISO RGD:1549988 D RGD:9068941 20200609 RGD PMID:20847283|REF_RGD_ID:7246899 10335251 Tlr9 toll like receptor 9 gene DOID:13166 allergic bronchopulmonary aspergillosis ISO RGD:1549988 D RGD:9068941 20200609 RGD PMID:18936185|REF_RGD_ID:5130858 10335251 Tlr9 toll like receptor 9 gene DOID:13166 allergic bronchopulmonary aspergillosis susceptibility ISO RGD:1346715 D RGD:9068941 20200609 RGD DNA:SNP:promoter:g.-1237T>C (rs5743836) (human) PMID:18275280|REF_RGD_ID:5130863 10335251 Tlr9 toll like receptor 9 gene DOID:14018 alcoholic liver cirrhosis ISO RGD:1346715 D RGD:9068941 20200609 RGD protein:increased expression:blood, neutrophil PMID:18433921|REF_RGD_ID:5130706 10335251 Tlr9 toll like receptor 9 gene DOID:1485 cystic fibrosis ISO RGD:1346715 D RGD:9068941 20200609 RGD DNA:snps:multiple (human) PMID:20837493|REF_RGD_ID:5130208 10335251 Tlr9 toll like receptor 9 gene DOID:1574 alcohol use disorder ISO RGD:1346715 D RGD:9068941 20250125 RGD mRNA:increased expression:orbitofrontal cortex PMID:34415075|REF_RGD_ID:597538499 10335251 Tlr9 toll like receptor 9 gene DOID:1612 breast cancer ISO RGD:1346715 D RGD:9068941 20200609 RGD protein:increased expression:breast, epithelial cell (human) PMID:18922969|REF_RGD_ID:7246913 10335251 Tlr9 toll like receptor 9 gene DOID:1749 squamous cell carcinoma ISO RGD:1346715 D RGD:9068941 20200609 RGD invasive squamous cell carcinoma of the cervix; mRNA:increased expression:tumor:significantly increased vs normal cervical tissue (p=0.012) PMID:17440926|REF_RGD_ID:2301099 10335251 Tlr9 toll like receptor 9 gene DOID:1883 hepatitis C ISO RGD:1346715 D RGD:9068941 20200609 RGD associated with psoriasis;mRNA:increased expession:skin (human) PMID:27184185|REF_RGD_ID:18337479 10335251 Tlr9 toll like receptor 9 gene DOID:1883 hepatitis C susceptibility ISO RGD:1346715 D RGD:9068941 20200609 RGD associated with acquired immunodeficiency syndrome;DNA:SNP:exon: (rs352140) (human) PMID:28062211|REF_RGD_ID:18337466 10335251 Tlr9 toll like receptor 9 gene DOID:2043 hepatitis B susceptibility ISO RGD:1346715 D RGD:9068941 20200609 RGD DNA:SNP:exon:2848G>A (rs352140) (human) PMID:25388852|REF_RGD_ID:18337480 10335251 Tlr9 toll like receptor 9 gene DOID:2799 bronchiolitis obliterans ISO RGD:1346715 D RGD:9068941 20200609 RGD DNA:SNPs:promoter, 3' utr:g.-1485C>T (rs187084), rs352162 (human) PMID:20227302|REF_RGD_ID:5130722 10335251 Tlr9 toll like receptor 9 gene DOID:2841 asthma ISO RGD:1549988 D RGD:9068941 20200609 RGD PMID:20016192|REF_RGD_ID:5129104 10335251 Tlr9 toll like receptor 9 gene DOID:2841 asthma no_association ISO RGD:1346715 D RGD:9068941 20200609 RGD DNA:SNP:promoter:g.-1237T>C rs5743836 (human) PMID:21324137|REF_RGD_ID:5130712 10335251 Tlr9 toll like receptor 9 gene DOID:2841 asthma severity ISO RGD:1346715 D RGD:9068941 20200609 RGD protein:increased expression:peripheral blood mononuclear cell (human) PMID:20072849|REF_RGD_ID:4889523 10335251 Tlr9 toll like receptor 9 gene DOID:2841 asthma susceptibility ISO RGD:1346715 D RGD:9068941 20200609 RGD DNA:SNP:promoter:g.-1237T>C (rs5743836) (human) PMID:18312481|REF_RGD_ID:4144208 10335251 Tlr9 toll like receptor 9 gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:1549988 D RGD:9068941 20200609 RGD mRNA:increased expression:renal glomerulus (mouse) PMID:18256364|REF_RGD_ID:7246909 10335251 Tlr9 toll like receptor 9 gene DOID:2957 pulmonary tuberculosis ISO RGD:1346715 D RGD:9068941 20200609 RGD DNA:snps:multiple (human) PMID:19771452|REF_RGD_ID:5130704 10335251 Tlr9 toll like receptor 9 gene DOID:2986 IgA glomerulonephritis ISO RGD:1549988 D RGD:9068941 20200609 RGD associated with Graft vs Host Disease; mRNA:increased expression:splenocyte (mouse) PMID:21621468|REF_RGD_ID:7246893 10335251 Tlr9 toll like receptor 9 gene DOID:2986 IgA glomerulonephritis severity ISO RGD:1346715 D RGD:9068941 20200609 RGD DNA:SNPs:intron, exon:IVS4-44A>G, c.1635G>A (rs352139, rs352140) (human) PMID:18776126|REF_RGD_ID:7246889 10335251 Tlr9 toll like receptor 9 gene DOID:2986 IgA glomerulonephritis severity ISO RGD:1549988 D RGD:9068941 20200609 RGD DNA, mRNA:SNP, increased expression:exon, spleen:g.159C>G (mouse) PMID:18776126|REF_RGD_ID:7246889 10335251 Tlr9 toll like receptor 9 gene DOID:2986 IgA glomerulonephritis treatment ISO RGD:1549988 D RGD:9068941 20200609 RGD associated with Graft vs Host Disease PMID:21621468|REF_RGD_ID:7246893 10335251 Tlr9 toll like receptor 9 gene DOID:3021 acute kidney failure ISO RGD:1549988 D RGD:9068941 20200609 RGD associated with Sepsis PMID:23548820|REF_RGD_ID:7245966 10335251 Tlr9 toll like receptor 9 gene DOID:3082 interstitial lung disease ISO RGD:1346715 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung (human) PMID:18633634|REF_RGD_ID:5130206 10335251 Tlr9 toll like receptor 9 gene DOID:3265 chronic granulomatous disease ISO RGD:1346715 D RGD:9068941 20200609 RGD protein:decreased expression:blood, neutrophil (human) PMID:18155283|REF_RGD_ID:5130865 10335251 Tlr9 toll like receptor 9 gene DOID:3770 pulmonary fibrosis ISO RGD:1346715 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (human) PMID:18633634|REF_RGD_ID:5130206 10335251 Tlr9 toll like receptor 9 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1346715 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:tumor (human) PMID:15631627|REF_RGD_ID:5130185 10335251 Tlr9 toll like receptor 9 gene DOID:4450 renal cell carcinoma severity ISO RGD:1346715 D RGD:9068941 20200609 RGD protein:decreased expression:tumor, cytoplasm (human) PMID:21929816|REF_RGD_ID:7246915 10335251 Tlr9 toll like receptor 9 gene DOID:4481 allergic rhinitis ISO RGD:1346715 D RGD:9068941 20200609 RGD protein:decreased expression:nasal mucosa: PMID:22577387|REF_RGD_ID:7800740 10335251 Tlr9 toll like receptor 9 gene DOID:5199 ureteral obstruction ISO RGD:1549988 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney (mouse) PMID:21544241|REF_RGD_ID:7246895 10335251 Tlr9 toll like receptor 9 gene DOID:576 proteinuria ISO RGD:1346715 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic; DNA:snp:intron:g.1174A>G rs352139 (human) PMID:22787315|REF_RGD_ID:7245989 10335251 Tlr9 toll like receptor 9 gene DOID:576 proteinuria ISO RGD:1549988 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic PMID:23467932|REF_RGD_ID:7245987 10335251 Tlr9 toll like receptor 9 gene DOID:684 hepatocellular carcinoma ISO RGD:1346715 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24990399 10335251 Tlr9 toll like receptor 9 gene DOID:684 hepatocellular carcinoma ISO RGD:1346715 D RGD:9068941 20200609 RGD protein: increased expression:peripheral blood mononuclear cell (human) PMID:18215354|REF_RGD_ID:18337472 10335251 Tlr9 toll like receptor 9 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1346715 D RGD:9068941 20200609 RGD human cells in a mouse model PMID:24452201|REF_RGD_ID:18337468 10335251 Tlr9 toll like receptor 9 gene DOID:784 chronic kidney disease susceptibility ISO RGD:1346715 D RGD:9068941 20200609 RGD DNA:SNPs:promoter, exon:g.-1237T>C, g.1635G>A (rs5743836, rs352140) (human, Han Chinese) PMID:21908957|REF_RGD_ID:7246887 10335251 Tlr9 toll like receptor 9 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:631352 D RGD:9068941 20200609 RGD mRNA:increased expression:ileum (rat) PMID:19608731|REF_RGD_ID:5128779 10335251 Tlr9 toll like receptor 9 gene DOID:874 bacterial pneumonia ISO RGD:1549988 D RGD:9068941 20200609 RGD PMID:20360853|REF_RGD_ID:5130719 10335251 Tlr9 toll like receptor 9 gene DOID:8778 Crohn's disease ISO RGD:1346715 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15236225|PMID:17914947 10335251 Tlr9 toll like receptor 9 gene DOID:8991 cervix uteri carcinoma in situ disease_progression ISO RGD:1346715 D RGD:9068941 20200609 RGD protein:increased expression:tumor:expression increases with the histopathological grade (p<0.001) PMID:17440926|REF_RGD_ID:2301099 10335251 Tlr9 toll like receptor 9 gene DOID:9000113 Pneumococcal Meningitis ISO RGD:1549988 D RGD:9068941 20200609 RGD mRNA:increased expression: : PMID:12781911|REF_RGD_ID:7794740 10335251 Tlr9 toll like receptor 9 gene DOID:9000989 Pneumococcal Infections ISO RGD:1549988 D RGD:9068941 20200609 RGD PMID:17004992|REF_RGD_ID:5130710 10335251 Tlr9 toll like receptor 9 gene DOID:9000998 Brain Injuries ISO RGD:1346715 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21549006 10335251 Tlr9 toll like receptor 9 gene DOID:9001004 Chronic Periodontitis severity ISO RGD:1346715 D RGD:9068941 20200609 RGD protein:increased expression:gingiva: PMID:21848608|REF_RGD_ID:7794852 10335251 Tlr9 toll like receptor 9 gene DOID:9001295 Achlorhydria ISO RGD:1346715 D RGD:9068941 20200609 RGD DNA:SNP:promoter:g.-1237T>C (rs5743836) (human) PMID:20038537|REF_RGD_ID:5130741 10335251 Tlr9 toll like receptor 9 gene DOID:9002287 Respiratory Tract Granuloma ISO RGD:1346715 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19797157 10335251 Tlr9 toll like receptor 9 gene DOID:9002287 Respiratory Tract Granuloma ISO RGD:1549988 D RGD:9068941 20200609 RGD PMID:17853411|REF_RGD_ID:5130186 10335251 Tlr9 toll like receptor 9 gene DOID:9002869 Schistosomiasis Mansoni ISO RGD:1346715 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19797157 10335251 Tlr9 toll like receptor 9 gene DOID:9003036 Oral Lichen Planus ISO RGD:1346715 D RGD:9068941 20200609 RGD protein:increased expression:oral epithelium: PMID:22672741|REF_RGD_ID:7777153 10335251 Tlr9 toll like receptor 9 gene DOID:9003157 Respiratory Sounds ISO RGD:1346715 D RGD:9068941 20200609 RGD DNA:SNP:promoter:g.-1486C>T rs187084 (human) PMID:20085599|REF_RGD_ID:5130731 10335251 Tlr9 toll like receptor 9 gene DOID:9003615 Granuloma, Foreign-Body ISO RGD:1346715 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19797157 10335251 Tlr9 toll like receptor 9 gene DOID:9003828 Klebsiella Infections ISO RGD:1549988 D RGD:9068941 20200609 RGD PMID:17785831|REF_RGD_ID:5130866 10335251 Tlr9 toll like receptor 9 gene DOID:9003870 Herpes Simplex Encephalitis resistance ISO RGD:631352 D RGD:9068941 20200609 RGD mRNA:increased expression:cheek (rat) PMID:20806060|REF_RGD_ID:5130178 10335251 Tlr9 toll like receptor 9 gene DOID:9004017 Chronic Hepatitis C ISO RGD:1346715 D RGD:9068941 20200609 RGD protein:increased expression:liver, peripheral blood mononuclear cell (human) PMID:23026026|REF_RGD_ID:18337477 10335251 Tlr9 toll like receptor 9 gene DOID:9004017 Chronic Hepatitis C severity ISO RGD:1346715 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:peripheral blood mononuclear cell (human) PMID:19513613|REF_RGD_ID:18337470 10335251 Tlr9 toll like receptor 9 gene DOID:9004283 Transplant Rejection susceptibility ISO RGD:1346715 D RGD:9068941 20200609 RGD kidney; DNA:snp:exon:g.+2848G>A rs352140 (human, North Indian) PMID:22251233|REF_RGD_ID:7246885 10335251 Tlr9 toll like receptor 9 gene DOID:9004538 Hearing Loss ISO RGD:1346715 D RGD:9068941 20200609 RGD associated with Meningitis,Bacterial; DNA:SNP: :-1237T>C(rs5743836)(human) PMID:22662111|REF_RGD_ID:7800663 10335251 Tlr9 toll like receptor 9 gene DOID:9005172 Lung Neoplasms ISO RGD:1346715 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:tumor (human) PMID:18763053|REF_RGD_ID:5130705 10335251 Tlr9 toll like receptor 9 gene DOID:9005358 Hypergammaglobulinemia ISO RGD:1549988 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic PMID:23467932|REF_RGD_ID:7245987 10335251 Tlr9 toll like receptor 9 gene DOID:9005372 Inflammation ISO RGD:1346715 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19797157 10335251 Tlr9 toll like receptor 9 gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:631352 D RGD:9068941 20200609 RGD mRNA:increased expression:multiple tissues PMID:18434754|REF_RGD_ID:2312677 10335251 Tlr9 toll like receptor 9 gene DOID:9006728 Triple Negative Breast Neoplasms ISO RGD:1346715 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24273604 10335251 Tlr9 toll like receptor 9 gene DOID:9007383 Chemical and Drug Induced Liver Injury severity ISO RGD:1346715 D RGD:9068941 20200609 RGD protein:increased expression: blood, neutrophil (human) PMID:26457748|REF_RGD_ID:18337465 10335251 Tlr9 toll like receptor 9 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:1549988 D RGD:9068941 20200609 RGD PMID:19164858|PMID:23509352|REF_RGD_ID:18337473|REF_RGD_ID:18337476 10335251 Tlr9 toll like receptor 9 gene DOID:9008163 Chronic Hepatitis B ISO RGD:1346715 D RGD:9068941 20200609 RGD mRNA, protein: decreased expression:liver, CD14-positive monocyte (human) PMID:24622882|REF_RGD_ID:18337464 10335251 Tlr9 toll like receptor 9 gene DOID:9008163 Chronic Hepatitis B ISO RGD:1346715 D RGD:9068941 20200609 RGD protein: increased expression:peripheral blood mononuclear cell (human) PMID:18215354|REF_RGD_ID:18337472 10335251 Tlr9 toll like receptor 9 gene DOID:9008163 Chronic Hepatitis B ISO RGD:1346715 D RGD:9068941 20200609 RGD protein:increased expression:peripheral blood mononuclear cell (human) PMID:27126946|REF_RGD_ID:18337474 10335251 Tlr9 toll like receptor 9 gene DOID:9008163 Chronic Hepatitis B severity ISO RGD:1346715 D RGD:9068941 20200609 RGD DNA:SNPs: 5'UTR: (rs5743836, rs187084) (human) PMID:30453064|REF_RGD_ID:18337467 10335251 Tlr9 toll like receptor 9 gene DOID:9008163 Chronic Hepatitis B severity ISO RGD:1346715 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:peripheral blood mononuclear cell (human) PMID:19513613|REF_RGD_ID:18337470 10335251 Tlr9 toll like receptor 9 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:1346715 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 10335251 Tlr9 toll like receptor 9 gene DOID:9008691 Liver Injury severity ISO RGD:1549988 D RGD:9068941 20200609 RGD associated with Hemorrhagic Shock PMID:20577143|REF_RGD_ID:18337475 10335251 Tlr9 toll like receptor 9 gene DOID:9008691 Liver Injury severity ISO RGD:1549988 D RGD:9068941 20200609 RGD associated with Kidney Reperfusion Injury PMID:26361210|REF_RGD_ID:18337471 10335251 Tlr9 toll like receptor 9 gene DOID:9008765 Malarial Anemia susceptibility ISO RGD:1346715 D RGD:9068941 20200609 RGD DNA:SNP:promoter:g.-1237T>C (rs5743836) (human) PMID:23045477|REF_RGD_ID:11344971 10335251 Tlr9 toll like receptor 9 gene DOID:9074 systemic lupus erythematosus ISO RGD:1549988 D RGD:9068941 20200609 RGD mRNA:increased expression:B lymphocyte (mouse) PMID:21592581|REF_RGD_ID:7246894 10335251 Tlr9 toll like receptor 9 gene DOID:9074 systemic lupus erythematosus severity ISO RGD:1549988 D RGD:9068941 20200609 RGD PMID:16973389|REF_RGD_ID:7245988 10335251 Tlr9 toll like receptor 9 gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:1346715 D RGD:9068941 20200609 RGD DNA:snp:exon:c.1635C>T rs352140 (human) PMID:19130296|REF_RGD_ID:5130767 10335251 Tlr9 toll like receptor 9 gene DOID:9111 cutaneous leishmaniasis ISO RGD:1346715 D RGD:9068941 20200609 RGD protein:decreased expression:skin: PMID:20493664|REF_RGD_ID:7794748 10335262 Marveld1 MARVEL domain containing 1 gene DOID:0080600 COVID-19 ISO RGD:1353944 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 10335262 Marveld1 MARVEL domain containing 1 gene DOID:14566 disease of cellular proliferation ISO RGD:1353944 D RGD:9068941 20220210 CTD CTD Direct Evidence: marker/mechanism PMID:31205918 10336153 Vsig10l2 V-set and immunoglobulin domain containing 10 like 2 gene DOID:5419 schizophrenia ISO RGD:12801887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 10336166 Cebpb CCAAT enhancer binding protein beta gene DOID:10652 Alzheimer's disease ISO RGD:736208 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus CA1 (human) PMID:12391607|REF_RGD_ID:10401229 10336166 Cebpb CCAAT enhancer binding protein beta gene DOID:10652 Alzheimer's disease treatment ISO RGD:10326 D RGD:9068941 20200609 RGD PMID:23911420|REF_RGD_ID:10401268 10336166 Cebpb CCAAT enhancer binding protein beta gene DOID:11573 listeriosis severity ISO RGD:10326 D RGD:9068941 20210108 RGD PMID:17911624|REF_RGD_ID:40903039 10336166 Cebpb CCAAT enhancer binding protein beta gene DOID:12858 Huntington's disease ISO RGD:10326 D RGD:9068941 20200609 RGD protein:increased expression:brain (mouse) PMID:14749423|REF_RGD_ID:10401227 10336166 Cebpb CCAAT enhancer binding protein beta gene DOID:1289 neurodegenerative disease ISO RGD:2327 D RGD:9068941 20241116 RGD protein:increased expression:neuron PMID:27769255|REF_RGD_ID:408418724 10336166 Cebpb CCAAT enhancer binding protein beta gene DOID:14262 oral candidiasis susceptibility ISO RGD:10326 D RGD:9068941 20210108 RGD PMID:26317211|REF_RGD_ID:11079756 10336166 Cebpb CCAAT enhancer binding protein beta gene DOID:1725 peritoneum cancer severity ISO RGD:10326 D RGD:9068941 20210108 RGD associated with stomach cancer PMID:26514342|REF_RGD_ID:11556383 10336166 Cebpb CCAAT enhancer binding protein beta gene DOID:2256 osteochondrodysplasia ISO RGD:10326 D RGD:9068941 20221020 MouseDO 10336166 Cebpb CCAAT enhancer binding protein beta gene DOID:2316 brain ischemia ISO RGD:736208 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17394460 10336166 Cebpb CCAAT enhancer binding protein beta gene DOID:299 adenocarcinoma ISO RGD:736208 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:34973135 10336166 Cebpb CCAAT enhancer binding protein beta gene DOID:3770 pulmonary fibrosis ISO RGD:736208 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17177178 10336166 Cebpb CCAAT enhancer binding protein beta gene DOID:399 tuberculosis ISO RGD:10326 D RGD:9068941 20210108 RGD mRNA:increased expression:lung, spleen (mouse) PMID:28558034|REF_RGD_ID:40903038 10336166 Cebpb CCAAT enhancer binding protein beta gene DOID:684 hepatocellular carcinoma ISO RGD:736208 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14563831 10336166 Cebpb CCAAT enhancer binding protein beta gene DOID:684 hepatocellular carcinoma ISO RGD:736208 D RGD:9068941 20210108 RGD mRNA:increased expression:liver (human) PMID:30659195|REF_RGD_ID:40903042 10336166 Cebpb CCAAT enhancer binding protein beta gene DOID:7148 rheumatoid arthritis ISO RGD:736208 D RGD:9068941 20200609 RGD protein:increased expression:knee, articular cartilage (human) PMID:19248099|REF_RGD_ID:10401213 10336166 Cebpb CCAAT enhancer binding protein beta gene DOID:8398 osteoarthritis susceptibility ISO RGD:10326 D RGD:9068941 20200609 RGD PMID:22095691|REF_RGD_ID:10401214 10336166 Cebpb CCAAT enhancer binding protein beta gene DOID:9000217 Stomach Neoplasms ISO RGD:736208 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:34973135 10336166 Cebpb CCAAT enhancer binding protein beta gene DOID:9000784 Fibrosis ISO RGD:736208 D RGD:9068941 20220512 CTD CTD Direct Evidence: therapeutic PMID:29266779 10336166 Cebpb CCAAT enhancer binding protein beta gene DOID:9000918 Disease Progression ISO RGD:736208 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:34973135 10336166 Cebpb CCAAT enhancer binding protein beta gene DOID:9000998 Brain Injuries ISO RGD:10326 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cerebral cortex (mouse) PMID:19833158|REF_RGD_ID:10401206 10336166 Cebpb CCAAT enhancer binding protein beta gene DOID:9000998 Brain Injuries ISO RGD:736208 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21549006 10336166 Cebpb CCAAT enhancer binding protein beta gene DOID:9001371 Eosinophilia ISO RGD:10326 D RGD:9068941 20210108 RGD PMID:24078688|REF_RGD_ID:40903041 10336166 Cebpb CCAAT enhancer binding protein beta gene DOID:9003936 Cardiomegaly ISO RGD:736208 D RGD:9068941 20220512 CTD CTD Direct Evidence: therapeutic PMID:29266779 10336166 Cebpb CCAAT enhancer binding protein beta gene DOID:9004484 Sepsis ISO RGD:2327 D RGD:9068941 20200609 RGD protein:increased expression:skeletal muscle PMID:11792653|REF_RGD_ID:625506 10336166 Cebpb CCAAT enhancer binding protein beta gene DOID:9005036 Bacteremia ISO RGD:10326 D RGD:9068941 20210108 RGD associated with alcohol use disorder;mRNA:increased expression:bone marrow (mouse) PMID:28784931|REF_RGD_ID:40903040 10336166 Cebpb CCAAT enhancer binding protein beta gene DOID:9005372 Inflammation ISO RGD:736208 D RGD:9068941 20200609 RGD associated with Arthritis, Rheumatoid;protein:increased expression:synovial lining cell, nucleus (human) PMID:10370372|REF_RGD_ID:10401215 10336166 Cebpb CCAAT enhancer binding protein beta gene DOID:9005930 Endotoxemia ISO RGD:10326 D RGD:9068941 20210108 RGD PMID:14659593|REF_RGD_ID:40903034 10336166 Cebpb CCAAT enhancer binding protein beta gene DOID:9005930 Endotoxemia treatment ISO RGD:2327 D RGD:9068941 20210108 RGD PMID:15192048|REF_RGD_ID:1625687 10336166 Cebpb CCAAT enhancer binding protein beta gene DOID:9006966 Pseudomonas Aeruginosa Keratitis treatment ISO RGD:10326 D RGD:9068941 20210108 RGD mRNA,protein:increased expression:cornea (mouse) PMID:23626014|REF_RGD_ID:40903020 10336166 Cebpb CCAAT enhancer binding protein beta gene DOID:9007346 Cachexia treatment ISO RGD:10326 D RGD:9068941 20210108 RGD PMID:27122162|REF_RGD_ID:40903021 10336166 Cebpb CCAAT enhancer binding protein beta gene DOID:9007456 Female Infertility ISO RGD:736208 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21177758 10336166 Cebpb CCAAT enhancer binding protein beta gene DOID:9008824 Sarcopenia ISO RGD:736208 D RGD:9068941 20200609 RGD mRNA:increased expression:vastus lateralis muscle (human) PMID:15687482|REF_RGD_ID:10401226 10336166 Cebpb CCAAT enhancer binding protein beta gene DOID:934 viral infectious disease ISO RGD:10326 D RGD:9068941 20220825 MouseDO 10336166 Cebpb CCAAT enhancer binding protein beta gene DOID:9452 steatotic liver disease ISO RGD:736208 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24469900 10337370 Ccni2 cyclin I family member 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:2290194 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 10337370 Ccni2 cyclin I family member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2290194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 10337370 Ccni2 cyclin I family member 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:2290194 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 10340989 Gpr25 G protein-coupled receptor 25 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1323161 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 10340989 Gpr25 G protein-coupled receptor 25 gene DOID:1540 parathyroid carcinoma ISO RGD:1323161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 10340989 Gpr25 G protein-coupled receptor 25 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1323161 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 10340989 Gpr25 G protein-coupled receptor 25 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1323161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 10341818 Smkr1 small lysine rich protein 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:7204969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 10342817 Exd3 exonuclease 3'-5' domain containing 3 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1606281 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 10342817 Exd3 exonuclease 3'-5' domain containing 3 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1606281 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 10342817 Exd3 exonuclease 3'-5' domain containing 3 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1606281 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 10342817 Exd3 exonuclease 3'-5' domain containing 3 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1606281 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 10342817 Exd3 exonuclease 3'-5' domain containing 3 gene DOID:0081097 Rafiq syndrome ISO RGD:1606281 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 10342817 Exd3 exonuclease 3'-5' domain containing 3 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1606281 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 10342817 Exd3 exonuclease 3'-5' domain containing 3 gene DOID:1826 epilepsy ISO RGD:1606281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 10342817 Exd3 exonuclease 3'-5' domain containing 3 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1606281 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 10343503 Ccl17 C-C motif chemokine ligand 17 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1349365 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 10343503 Ccl17 C-C motif chemokine ligand 17 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1349365 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 10343503 Ccl17 C-C motif chemokine ligand 17 gene DOID:11335 sarcoidosis ISO RGD:1349365 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17949965|REF_RGD_ID:4145494 10343503 Ccl17 C-C motif chemokine ligand 17 gene DOID:1205 allergic disease ISO RGD:1349365 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 10343503 Ccl17 C-C motif chemokine ligand 17 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1349365 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:17641031|REF_RGD_ID:4145495 10343503 Ccl17 C-C motif chemokine ligand 17 gene DOID:13166 allergic bronchopulmonary aspergillosis ISO RGD:1349365 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis PMID:17898016|REF_RGD_ID:4145612 10343503 Ccl17 C-C motif chemokine ligand 17 gene DOID:1485 cystic fibrosis ISO RGD:1349365 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:neutrophil PMID:18026571|REF_RGD_ID:4145491 10343503 Ccl17 C-C motif chemokine ligand 17 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1349365 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 10343503 Ccl17 C-C motif chemokine ligand 17 gene DOID:2799 bronchiolitis obliterans ISO RGD:1349365 D RGD:9068941 20200609 RGD PMID:18785972|REF_RGD_ID:4145604 10343503 Ccl17 C-C motif chemokine ligand 17 gene DOID:2841 asthma ISO RGD:1349365 D RGD:9068941 20200609 RGD PMID:20237293|REF_RGD_ID:4145486 10343503 Ccl17 C-C motif chemokine ligand 17 gene DOID:2841 asthma ISO RGD:619924 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:15993846|REF_RGD_ID:2306304 10343503 Ccl17 C-C motif chemokine ligand 17 gene DOID:2841 asthma ISO RGD:733477 D RGD:9068941 20200609 RGD PMID:11160256|PMID:15947487|REF_RGD_ID:4145513|REF_RGD_ID:4145603 10343503 Ccl17 C-C motif chemokine ligand 17 gene DOID:2841 asthma ISO RGD:733477 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:20074456|REF_RGD_ID:4145487 10343503 Ccl17 C-C motif chemokine ligand 17 gene DOID:3042 allergic contact dermatitis ISO RGD:733477 D RGD:9068941 20200609 RGD PMID:15491423|REF_RGD_ID:1626251 10343503 Ccl17 C-C motif chemokine ligand 17 gene DOID:3082 interstitial lung disease ISO RGD:1349365 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18276722|REF_RGD_ID:4145606 10343503 Ccl17 C-C motif chemokine ligand 17 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1349365 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:respiratory system mucosa, respiratory system fluid/secretion PMID:18684970|REF_RGD_ID:4145489 10343503 Ccl17 C-C motif chemokine ligand 17 gene DOID:3310 atopic dermatitis ISO RGD:1349365 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18249437 10343503 Ccl17 C-C motif chemokine ligand 17 gene DOID:3770 pulmonary fibrosis ISO RGD:1349365 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:19715610|REF_RGD_ID:4145488 10343503 Ccl17 C-C motif chemokine ligand 17 gene DOID:3770 pulmonary fibrosis ISO RGD:619924 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:15993846|REF_RGD_ID:2306304 10343503 Ccl17 C-C motif chemokine ligand 17 gene DOID:4483 rhinitis ISO RGD:1349365 D RGD:9068941 20200609 RGD protein:increased expression:blood, mononuclear cell PMID:17517104|REF_RGD_ID:4145498 10343503 Ccl17 C-C motif chemokine ligand 17 gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:619924 D RGD:9068941 20200609 RGD mRNA:increased expression:glomerulus PMID:20071465|REF_RGD_ID:4145614 10343503 Ccl17 C-C motif chemokine ligand 17 gene DOID:552 pneumonia ISO RGD:1349365 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 10343503 Ccl17 C-C motif chemokine ligand 17 gene DOID:552 pneumonia ISO RGD:619924 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:15993846|REF_RGD_ID:2306304 10343503 Ccl17 C-C motif chemokine ligand 17 gene DOID:9001371 Eosinophilia severity ISO RGD:1349365 D RGD:9068941 20200609 RGD associated with Lymphoma, T-Cell PMID:18395252|REF_RGD_ID:11354898 10343503 Ccl17 C-C motif chemokine ligand 17 gene DOID:9002287 Respiratory Tract Granuloma ISO RGD:733477 D RGD:9068941 20200609 RGD PMID:15466387|REF_RGD_ID:4145515 10343503 Ccl17 C-C motif chemokine ligand 17 gene DOID:9007417 Pseudomonas Infections ISO RGD:1349365 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis PMID:16387607|REF_RGD_ID:4145500 10343503 Ccl17 C-C motif chemokine ligand 17 gene DOID:9008604 Radiation Pneumonitis ISO RGD:619924 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung, alveolar macrophage PMID:15293604|REF_RGD_ID:4145517 10343503 Ccl17 C-C motif chemokine ligand 17 gene DOID:9008870 Chromosome 16q12 Duplication Syndrome ISO RGD:1349365 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome PMID:25741868 10343503 Ccl17 C-C motif chemokine ligand 17 gene DOID:9498 pulmonary eosinophilia ISO RGD:1349365 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:11956056|REF_RGD_ID:4145602 10345881 Card6 caspase recruitment domain family member 6 gene DOID:0080600 COVID-19 ISO RGD:1314062 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 10345881 Card6 caspase recruitment domain family member 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314062 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 10347018 Phgr1 proline, histidine and glycine rich 1 gene DOID:0080141 mosaic variegated aneuploidy syndrome 1 ISO RGD:3398935 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 PMID:28492532 10347018 Phgr1 proline, histidine and glycine rich 1 gene DOID:2717 Bloom syndrome ISO RGD:3398935 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 10347018 Phgr1 proline, histidine and glycine rich 1 gene DOID:9256 colorectal cancer ISO RGD:3398935 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 10348906 Foxq1 forkhead box Q1 gene DOID:9008939 Breast Neoplasms ISO RGD:732997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27129776 10353052 Hs3st6 heparan sulfate-glucosamine 3-sulfotransferase 6 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1344226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:20498439|PMID:25741868|PMID:28492532|PMID:29932062 10353052 Hs3st6 heparan sulfate-glucosamine 3-sulfotransferase 6 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1344226 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:28492532|PMID:30866059 10353052 Hs3st6 heparan sulfate-glucosamine 3-sulfotransferase 6 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1344226 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 10353052 Hs3st6 heparan sulfate-glucosamine 3-sulfotransferase 6 gene DOID:10316 pneumoconiosis ISO RGD:1344226 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25445010 10353052 Hs3st6 heparan sulfate-glucosamine 3-sulfotransferase 6 gene DOID:1826 epilepsy ISO RGD:1344226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 10353052 Hs3st6 heparan sulfate-glucosamine 3-sulfotransferase 6 gene DOID:9007991 Hereditary Angioedema 8 ISO RGD:1344226 D RGD:7240710 20210811 OMIM 10353052 Hs3st6 heparan sulfate-glucosamine 3-sulfotransferase 6 gene DOID:9007991 Hereditary Angioedema 8 ISO RGD:1344226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angioedema, hereditary, 8 PMID:33508266 10353052 Hs3st6 heparan sulfate-glucosamine 3-sulfotransferase 6 gene DOID:9009315 Idiopathic Generalized Epilepsy ISO RGD:1344226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 10355889 Ltc4s leukotriene C4 synthase gene DOID:0060213 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ISO RGD:733491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 PMID:26925868|PMID:28492532 10355889 Ltc4s leukotriene C4 synthase gene DOID:0060318 acute promyelocytic leukemia ISO RGD:733491 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:32929351 10355889 Ltc4s leukotriene C4 synthase gene DOID:0060500 drug allergy ISO RGD:733491 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16433794 10355889 Ltc4s leukotriene C4 synthase gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:733491 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 10355889 Ltc4s leukotriene C4 synthase gene DOID:0080822 aspirin-induced respiratory disease ISO RGD:733491 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10970818|PMID:20485159|PMID:9393345|PMID:9466979 10355889 Ltc4s leukotriene C4 synthase gene DOID:0111579 asthma, nasal polyps, and aspirin intolerance ISO RGD:733491 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Asthma, nasal polyps, and aspirin intolerance PMID:25741868 10355889 Ltc4s leukotriene C4 synthase gene DOID:10754 otitis media IEP D RGD:11553910|PMID:20433028 20161017 RGD 10355889 Ltc4s leukotriene C4 synthase gene DOID:14748 Sotos syndrome ISO RGD:733491 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Sotos syndrome PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 10355889 Ltc4s leukotriene C4 synthase gene DOID:2921 glomerulonephritis ISO RGD:620677 D RGD:9068941 20200609 RGD protein:altered activity:kidney, cortex (rat) PMID:7827126|REF_RGD_ID:2316641 10355889 Ltc4s leukotriene C4 synthase gene DOID:574 peripheral nervous system disease ISO RGD:620677 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord dorsal horn (rat) PMID:19908283|REF_RGD_ID:2316612 10355889 Ltc4s leukotriene C4 synthase gene DOID:9002023 Leukotriene C4 Synthase Deficiency ISO RGD:733491 D RGD:7240710 20180130 OMIM 10355889 Ltc4s leukotriene C4 synthase gene DOID:9002023 Leukotriene C4 Synthase Deficiency ISO RGD:733491 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leukotriene c4 synthase deficiency PMID:25741868 10355889 Ltc4s leukotriene C4 synthase gene DOID:9004590 Acute Liver Failure ISO RGD:620677 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver (rat) PMID:18461660|REF_RGD_ID:2302283 10356953 Cracd capping protein inhibiting regulator of actin dynamics gene DOID:0070263 congenital disorder of glycosylation type IIk ISO RGD:2303430 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: TMEM165-CDG PMID:22521416|PMID:26657937|PMID:28492532 10356953 Cracd capping protein inhibiting regulator of actin dynamics gene DOID:9253 gastrointestinal stromal tumor ISO RGD:2303430 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:1279971|PMID:15194144|PMID:1720553|PMID:28492532|PMID:7529964 10358960 Znf772 zinc finger protein 772 gene DOID:10283 prostate cancer ISO RGD:1606077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 10359240 Pagr1 PAXIP1 associated glutamate rich protein 1 gene DOID:0060019 coronin-1A deficiency ISO RGD:1606780 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:14615364|PMID:18836449|PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:25073507|PMID:2825199|PMID:28492532 10359240 Pagr1 PAXIP1 associated glutamate rich protein 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1606780 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 10359240 Pagr1 PAXIP1 associated glutamate rich protein 1 gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:1606780 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 10359240 Pagr1 PAXIP1 associated glutamate rich protein 1 gene DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb ISO RGD:1606780 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome PMID:25741868|PMID:31690835 10359240 Pagr1 PAXIP1 associated glutamate rich protein 1 gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:1606780 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:14615364|PMID:18836449|PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:25073507|PMID:2825199|PMID:28492532 10359240 Pagr1 PAXIP1 associated glutamate rich protein 1 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1606780 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 10359240 Pagr1 PAXIP1 associated glutamate rich protein 1 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1606780 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734 10359240 Pagr1 PAXIP1 associated glutamate rich protein 1 gene DOID:12849 autistic disorder ISO RGD:1606780 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 10359240 Pagr1 PAXIP1 associated glutamate rich protein 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1606780 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant PMID:28492532 10359240 Pagr1 PAXIP1 associated glutamate rich protein 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1606780 D RGD:9068941 20220826 RGD mRNA, protein:decreased expression:esophagus (human) PMID:33833989|REF_RGD_ID:153344568 10359240 Pagr1 PAXIP1 associated glutamate rich protein 1 gene DOID:5419 schizophrenia ISO RGD:1606780 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 10359240 Pagr1 PAXIP1 associated glutamate rich protein 1 gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:1606780 D RGD:9068941 20220826 RGD protein:decreased expression:esophagus (human) PMID:33833989|REF_RGD_ID:153344568 10359240 Pagr1 PAXIP1 associated glutamate rich protein 1 gene DOID:9003268 Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal ISO RGD:1606780 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: lethal neurodevelopmental disorder PMID:25741868|PMID:34585832 10359240 Pagr1 PAXIP1 associated glutamate rich protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606780 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:34585832 10359240 Pagr1 PAXIP1 associated glutamate rich protein 1 gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:1606780 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:14615364|PMID:18836449|PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:25073507|PMID:2825199|PMID:28492532 10359240 Pagr1 PAXIP1 associated glutamate rich protein 1 gene DOID:9009121 lung metastasis ISO RGD:1606780 D RGD:9068941 20220826 RGD human cells in mouse model PMID:33833989|REF_RGD_ID:153344568 10359240 Pagr1 PAXIP1 associated glutamate rich protein 1 gene DOID:9009225 Episodic Kinesigenic Dyskinesia ISO RGD:1606780 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia PMID:14615364|PMID:18836449|PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23077026|PMID:23363396|PMID:24372385|PMID:24811917|PMID:25073507|PMID:2825199|PMID:28492532|PMID:30980674 10359836 Btbd18 BTB domain containing 18 gene DOID:1059 intellectual disability ISO RGD:2923345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 10359842 Rpl6 ribosomal protein L6 gene DOID:0060578 Noonan syndrome 1 ISO RGD:733694 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Noonan syndrome 1 10359842 Rpl6 ribosomal protein L6 gene DOID:0080548 Noonan syndrome with multiple lentigines 1 ISO RGD:733694 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: LEOPARD syndrome 1 10359842 Rpl6 ribosomal protein L6 gene DOID:0080690 RASopathy ISO RGD:733694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 10359842 Rpl6 ribosomal protein L6 gene DOID:0111512 metachondromatosis ISO RGD:733694 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Metachondromatosis 10359842 Rpl6 ribosomal protein L6 gene DOID:14330 Parkinson's disease ISO RGD:733694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18353766 10359842 Rpl6 ribosomal protein L6 gene DOID:305 carcinoma ISO RGD:733694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 10359842 Rpl6 ribosomal protein L6 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:733694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 10359842 Rpl6 ribosomal protein L6 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:733694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 10360993 Hoxd9 homeobox D9 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1354432 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 10360993 Hoxd9 homeobox D9 gene DOID:3030 mucinous adenocarcinoma ISO RGD:1354432 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26075790 10360993 Hoxd9 homeobox D9 gene DOID:684 hepatocellular carcinoma ISO RGD:1354432 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 10360993 Hoxd9 homeobox D9 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1354432 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26075790 10360993 Hoxd9 homeobox D9 gene DOID:9008192 Neoplastic Processes ISO RGD:1354432 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26075790 10360993 Hoxd9 homeobox D9 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1354432 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26075790 10361010 Zscan25 zinc finger and SCAN domain containing 25 gene DOID:10825 essential hypertension ISO RGD:1318498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CYP3A5-related condition | ClinVar Annotator: match by term: Hypertension, salt-sensitive essential, susceptibility to PMID:11279519|PMID:11740341|PMID:12065767|PMID:12754175|PMID:15492926 10361010 Zscan25 zinc finger and SCAN domain containing 25 gene DOID:437 myasthenia gravis ISO RGD:1318498 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: refractory myasthenia gravis PMID:11279519|PMID:11740341|PMID:12065767|PMID:12754175|PMID:15492926 10361010 Zscan25 zinc finger and SCAN domain containing 25 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1318498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 10362863 Gpx1 glutathione peroxidase 1 gene DOID:0050083 Keshan disease ISO RGD:737005 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.P198L (human) PMID:21055077|REF_RGD_ID:11352821 10362863 Gpx1 glutathione peroxidase 1 gene DOID:0050866 oral squamous cell carcinoma exacerbates ISO RGD:737005 D RGD:9068941 20220623 RGD protein:increased expression:oral cavity (human) PMID:28653098|REF_RGD_ID:152995473 10362863 Gpx1 glutathione peroxidase 1 gene DOID:0060060 non-Hodgkin lymphoma treatment ISO RGD:737005 D RGD:9068941 20200609 RGD PMID:25016003|REF_RGD_ID:11352765 10362863 Gpx1 glutathione peroxidase 1 gene DOID:0060852 Pierson syndrome ISO RGD:737005 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pierson syndrome PMID:15367484|PMID:28492532 10362863 Gpx1 glutathione peroxidase 1 gene DOID:0070004 myeloid neoplasm ISO RGD:737005 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.P198L (human) PMID:27077777|REF_RGD_ID:11352761 10362863 Gpx1 glutathione peroxidase 1 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease treatment ISO RGD:10681 D RGD:9068941 20200609 RGD PMID:24597775|REF_RGD_ID:11352823 10362863 Gpx1 glutathione peroxidase 1 gene DOID:0080600 COVID-19 ISO RGD:737005 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 10362863 Gpx1 glutathione peroxidase 1 gene DOID:0110293 autosomal recessive limb-girdle muscular dystrophy type 2P ISO RGD:737005 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P PMID:20234391|PMID:25614308|PMID:25934851|PMID:28492532 10362863 Gpx1 glutathione peroxidase 1 gene DOID:0111585 carnitine-acylcarnitine translocase deficiency ISO RGD:737005 D RGD:8554872 20240716 ClinVar ClinVar Annotator: match by term: Carnitine acylcarnitine translocase deficiency PMID:20234391|PMID:25614308|PMID:25934851|PMID:28492532 10362863 Gpx1 glutathione peroxidase 1 gene DOID:10534 stomach cancer exacerbates ISO RGD:737005 D RGD:9068941 20220428 RGD protein:decreased expression:stomach (human) PMID:22843889|REF_RGD_ID:151665483 10362863 Gpx1 glutathione peroxidase 1 gene DOID:10534 stomach cancer susceptibility ISO RGD:737005 D RGD:9068941 20220623 RGD DNA:missense mutation, haplotype:CDS:p.P198L (human) PMID:19035188|REF_RGD_ID:152995456 10362863 Gpx1 glutathione peroxidase 1 gene DOID:10591 pre-eclampsia ISO RGD:737005 D RGD:9068941 20230928 RGD protein:decreased expression:placenta PMID:20303587|PMID:28705740|REF_RGD_ID:401827170|REF_RGD_ID:401827825 10362863 Gpx1 glutathione peroxidase 1 gene DOID:10591 pre-eclampsia ISO RGD:737005 D RGD:9068941 20230930 RGD mRNA:decreased expression:placenta PMID:18852388|REF_RGD_ID:401827849 10362863 Gpx1 glutathione peroxidase 1 gene DOID:10763 hypertension ISO RGD:737005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21593737 10362863 Gpx1 glutathione peroxidase 1 gene DOID:10763 hypertension ISO RGD:737005 D RGD:9068941 20200609 RGD protein,mRNA:decreased_expression:mononuclear_cells:after treatment, activity increased but mRNA expression decreased further PMID:17198913|REF_RGD_ID:1600704 10362863 Gpx1 glutathione peroxidase 1 gene DOID:10763 hypertension treatment ISO RGD:2729 D RGD:9068941 20230720 RGD PMID:21210316|PMID:23752977|PMID:31572179|REF_RGD_ID:11352825|REF_RGD_ID:11353777|REF_RGD_ID:329956417 10362863 Gpx1 glutathione peroxidase 1 gene DOID:10923 sickle cell anemia ISO RGD:10681 D RGD:9068941 20200609 RGD protein:decreased expression:penis PMID:22620981|REF_RGD_ID:11352757 10362863 Gpx1 glutathione peroxidase 1 gene DOID:10923 sickle cell anemia ISO RGD:737005 D RGD:9068941 20200609 RGD PMID:20846340|REF_RGD_ID:11352775 10362863 Gpx1 glutathione peroxidase 1 gene DOID:10923 sickle cell anemia treatment ISO RGD:737005 D RGD:9068941 20200609 RGD PMID:19951064|REF_RGD_ID:11352756 10362863 Gpx1 glutathione peroxidase 1 gene DOID:1099 alpha thalassemia ISO RGD:737005 D RGD:9068941 20200609 RGD PMID:24577940|REF_RGD_ID:11352811 10362863 Gpx1 glutathione peroxidase 1 gene DOID:11054 urinary bladder cancer ISO RGD:737005 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:15247771|PMID:35764155 10362863 Gpx1 glutathione peroxidase 1 gene DOID:11476 osteoporosis ISO RGD:737005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 10362863 Gpx1 glutathione peroxidase 1 gene DOID:11713 diabetic angiopathy ISO RGD:737005 D RGD:9068941 20200609 RGD cardiovascular complications in type 2 diabetics; protein:reduced_activity:blood PMID:16338763|REF_RGD_ID:1600708 10362863 Gpx1 glutathione peroxidase 1 gene DOID:11714 gestational diabetes ISO RGD:2729 D RGD:9068941 20200609 RGD PMID:22342560|REF_RGD_ID:11353780 10362863 Gpx1 glutathione peroxidase 1 gene DOID:11758 iron deficiency anemia ISO RGD:2729 D RGD:9068941 20200609 RGD PMID:7861256|REF_RGD_ID:11352760 10362863 Gpx1 glutathione peroxidase 1 gene DOID:11758 iron deficiency anemia treatment ISO RGD:737005 D RGD:9068941 20200609 RGD associated with Renal Insufficiency, Chronic PMID:24691014|REF_RGD_ID:11352819 10362863 Gpx1 glutathione peroxidase 1 gene DOID:1184 nephrotic syndrome ISO RGD:2729 D RGD:9068941 20231005 RGD mRNA:increased expression:kidney PMID:20685819|REF_RGD_ID:7205671 10362863 Gpx1 glutathione peroxidase 1 gene DOID:1240 leukemia ISO RGD:737005 D RGD:9068941 20200609 RGD PMID:17205986|REF_RGD_ID:11352809 10362863 Gpx1 glutathione peroxidase 1 gene DOID:12849 autistic disorder ISO RGD:737005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19195803 10362863 Gpx1 glutathione peroxidase 1 gene DOID:12858 Huntington's disease ISO RGD:737005 D RGD:9068941 20200609 RGD PMID:18588971|REF_RGD_ID:13432193 10362863 Gpx1 glutathione peroxidase 1 gene DOID:1287 cardiovascular system disease ISO RGD:737005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14573732 10362863 Gpx1 glutathione peroxidase 1 gene DOID:1287 cardiovascular system disease susceptibility ISO RGD:737005 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :p.P198L (human) PMID:15331559|REF_RGD_ID:2306612 10362863 Gpx1 glutathione peroxidase 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:737005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18940188 10362863 Gpx1 glutathione peroxidase 1 gene DOID:12930 dilated cardiomyopathy susceptibility ISO RGD:737005 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.P198L (human) PMID:18940188|REF_RGD_ID:2306616 10362863 Gpx1 glutathione peroxidase 1 gene DOID:13001 carotid stenosis ISO RGD:10681 D RGD:9068941 20200609 RGD PMID:23426106|REF_RGD_ID:11352755 10362863 Gpx1 glutathione peroxidase 1 gene DOID:1324 lung cancer ISO RGD:737005 D RGD:9068941 20220428 RGD DNA:missense mutation:CDS:p.P198L (human) PMID:16615267|REF_RGD_ID:152023634 10362863 Gpx1 glutathione peroxidase 1 gene DOID:1324 lung cancer exacerbates ISO RGD:737005 D RGD:9068941 20220623 RGD DNA:mutations:multiple (human) PMID:32850411|REF_RGD_ID:152995450 10362863 Gpx1 glutathione peroxidase 1 gene DOID:1324 lung cancer susceptibility ISO RGD:737005 D RGD:9068941 20220630 RGD DNA:missense mutation:CDS: (rs1050450) (human) PMID:23516596|REF_RGD_ID:152998903 10362863 Gpx1 glutathione peroxidase 1 gene DOID:1324 lung cancer susceptibility ISO RGD:737005 D RGD:9068941 20220630 RGD DNA:missense mutation:CDS:p.P198L (human) PMID:11103801|PMID:15192016|REF_RGD_ID:152995449|REF_RGD_ID:152995506 10362863 Gpx1 glutathione peroxidase 1 gene DOID:1459 hypothyroidism treatment ISO RGD:2729 D RGD:9068941 20200609 RGD PMID:22733496|REF_RGD_ID:7257534 10362863 Gpx1 glutathione peroxidase 1 gene DOID:1596 depressive disorder ISO RGD:737005 D RGD:9068941 20200609 RGD PMID:23707456|REF_RGD_ID:11352766 10362863 Gpx1 glutathione peroxidase 1 gene DOID:1612 breast cancer susceptibility ISO RGD:737005 D RGD:9068941 20220623 RGD DNA:repeat:CDS: (human) PMID:14744747|REF_RGD_ID:152995457 10362863 Gpx1 glutathione peroxidase 1 gene DOID:1749 squamous cell carcinoma ISO RGD:737005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15557674 10362863 Gpx1 glutathione peroxidase 1 gene DOID:182 calcinosis susceptibility ISO RGD:737005 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :p.P197L (human) PMID:17825092|REF_RGD_ID:2306608 10362863 Gpx1 glutathione peroxidase 1 gene DOID:1826 epilepsy ISO RGD:737005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19499324 10362863 Gpx1 glutathione peroxidase 1 gene DOID:2018 hyperinsulinism ISO RGD:737005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15184668|PMID:18560803 10362863 Gpx1 glutathione peroxidase 1 gene DOID:219 colon cancer ISO RGD:737005 D RGD:9068941 20220630 RGD mRNA, protein:increased expression:colon (human) PMID:21868509|REF_RGD_ID:152995496 10362863 Gpx1 glutathione peroxidase 1 gene DOID:219 colon cancer treatment ISO RGD:10681 D RGD:9068941 20220624 RGD associated with Inflammation PMID:28045589|REF_RGD_ID:152995480 10362863 Gpx1 glutathione peroxidase 1 gene DOID:2316 brain ischemia ISO RGD:737005 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12531513 10362863 Gpx1 glutathione peroxidase 1 gene DOID:2349 arteriosclerosis ISO RGD:10681 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:17420349|REF_RGD_ID:2306610 10362863 Gpx1 glutathione peroxidase 1 gene DOID:2355 anemia ISO RGD:737005 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic PMID:8939405|REF_RGD_ID:11352778 10362863 Gpx1 glutathione peroxidase 1 gene DOID:2355 anemia treatment ISO RGD:2729 D RGD:9068941 20200609 RGD PMID:21422078|REF_RGD_ID:11352776 10362863 Gpx1 glutathione peroxidase 1 gene DOID:2527 nephrosis ISO RGD:737005 D RGD:9068941 20200609 RGD PMID:22046528|REF_RGD_ID:7240570 10362863 Gpx1 glutathione peroxidase 1 gene DOID:2596 larynx cancer susceptibility ISO RGD:737005 D RGD:9068941 20220630 RGD DNA:missense mutation:CDS: (rs1050450) (human) PMID:23516596|REF_RGD_ID:152998903 10362863 Gpx1 glutathione peroxidase 1 gene DOID:2671 transitional cell carcinoma ISO RGD:737005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15247771 10362863 Gpx1 glutathione peroxidase 1 gene DOID:2738 pseudoxanthoma elasticum onset ISO RGD:737005 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:c.593C>T (rs1050450) PMID:17693525|REF_RGD_ID:8547520 10362863 Gpx1 glutathione peroxidase 1 gene DOID:285 hairy cell leukemia ISO RGD:737005 D RGD:9068941 20200609 RGD PMID:8843970|REF_RGD_ID:11353776 10362863 Gpx1 glutathione peroxidase 1 gene DOID:2876 laryngeal squamous cell carcinoma disease_progression ISO RGD:737005 D RGD:9068941 20220623 RGD DNA:missense mutation:CDS:p.P198L (rs1050450) (human) PMID:27188866|REF_RGD_ID:152995455 10362863 Gpx1 glutathione peroxidase 1 gene DOID:2876 laryngeal squamous cell carcinoma disease_progression ISO RGD:737005 D RGD:9068941 20220623 RGD protein:increased expression:larynx (human) PMID:28641905|REF_RGD_ID:152995454 10362863 Gpx1 glutathione peroxidase 1 gene DOID:2876 laryngeal squamous cell carcinoma no_association ISO RGD:737005 D RGD:9068941 20220630 RGD DNA:missense mutation:CDS:p.P198L (human) PMID:24074040|REF_RGD_ID:152995493 10362863 Gpx1 glutathione peroxidase 1 gene DOID:3393 coronary artery disease ISO RGD:737005 D RGD:9068941 20200609 RGD DNA:repeat:exon PMID:12655278|REF_RGD_ID:1600677 10362863 Gpx1 glutathione peroxidase 1 gene DOID:3393 coronary artery disease ISO RGD:737005 D RGD:9068941 20200609 RGD cardiovascular complications in type 2 diabetics; protein:reduced_activity:blood PMID:16338763|REF_RGD_ID:1600708 10362863 Gpx1 glutathione peroxidase 1 gene DOID:3717 gastric adenocarcinoma exacerbates ISO RGD:737005 D RGD:9068941 20220623 RGD protein:decreased expression:mucosa of stomach (human) PMID:24228025|REF_RGD_ID:152995446 10362863 Gpx1 glutathione peroxidase 1 gene DOID:3717 gastric adenocarcinoma susceptibility ISO RGD:737005 D RGD:9068941 20220630 RGD mRNA:decreased expression:stomach, erythrocyte, lymphocyte (human) PMID:27957666|REF_RGD_ID:152998894 10362863 Gpx1 glutathione peroxidase 1 gene DOID:3907 lung squamous cell carcinoma ISO RGD:737005 D RGD:9068941 20220630 RGD DNA:missense mutation:CDS:p.P200L (rs1050450) (human) PMID:18298806|REF_RGD_ID:152995507 10362863 Gpx1 glutathione peroxidase 1 gene DOID:3907 lung squamous cell carcinoma susceptibility ISO RGD:737005 D RGD:9068941 20220624 RGD DNA:missense mutation:CDS:p.P198L (rs1050450) (human) PMID:16797832|REF_RGD_ID:152995481 10362863 Gpx1 glutathione peroxidase 1 gene DOID:3908 lung non-small cell carcinoma onset ISO RGD:737005 D RGD:9068941 20220630 RGD mRNA:increased expression:leukocyte (human) PMID:33474835|REF_RGD_ID:152998904 10362863 Gpx1 glutathione peroxidase 1 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:737005 D RGD:9068941 20220630 RGD DNA:SNP: (human) PMID:19347979|REF_RGD_ID:152998881 10362863 Gpx1 glutathione peroxidase 1 gene DOID:4195 hyperglycemia ISO RGD:737005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15184668 10362863 Gpx1 glutathione peroxidase 1 gene DOID:4195 hyperglycemia treatment ISO RGD:737005 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:19819955|REF_RGD_ID:11353779 10362863 Gpx1 glutathione peroxidase 1 gene DOID:5517 stomach carcinoma exacerbates ISO RGD:737005 D RGD:9068941 20220428 RGD protein:decreased expression:stomach (human) PMID:8001233|REF_RGD_ID:152023661 10362863 Gpx1 glutathione peroxidase 1 gene DOID:5844 myocardial infarction susceptibility ISO RGD:737005 D RGD:9068941 20200609 RGD PMID:14573732|REF_RGD_ID:1600662 10362863 Gpx1 glutathione peroxidase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:730872 D RGD:9068941 20220415 RGD associated with alcoholic liver cirrhosis;DNA:missense mutation:CDS:p.P198L (human) PMID:16510607|REF_RGD_ID:151708729 10362863 Gpx1 glutathione peroxidase 1 gene DOID:684 hepatocellular carcinoma no_association ISO RGD:737005 D RGD:9068941 20220701 RGD DNA:missense mutation:CDS:p.P198L (human) PMID:25894370|REF_RGD_ID:152998906 10362863 Gpx1 glutathione peroxidase 1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:737005 D RGD:9068941 20220415 RGD associated with hepatitis C;DNA:missense mutation:CDS:p.P198L (rs1050450) (human) PMID:26990426|REF_RGD_ID:11533013 10362863 Gpx1 glutathione peroxidase 1 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:732740 D RGD:9068941 20220624 RGD PMID:19929244|REF_RGD_ID:152995483 10362863 Gpx1 glutathione peroxidase 1 gene DOID:7693 abdominal aortic aneurysm treatment ISO RGD:10681 D RGD:9068941 20230928 RGD PMID:21530968|PMID:24337353|REF_RGD_ID:401827823|REF_RGD_ID:401827834 10362863 Gpx1 glutathione peroxidase 1 gene DOID:784 chronic kidney disease ISO RGD:737005 D RGD:9068941 20230928 RGD DNA:SNP: :rs17080528 (human) PMID:31924810|REF_RGD_ID:401827826 10362863 Gpx1 glutathione peroxidase 1 gene DOID:784 chronic kidney disease treatment ISO RGD:737005 D RGD:9068941 20200609 RGD PMID:15954914|REF_RGD_ID:11352759 10362863 Gpx1 glutathione peroxidase 1 gene DOID:7998 hyperthyroidism ISO RGD:2729 D RGD:9068941 20200609 RGD PMID:19914224|REF_RGD_ID:9068475 10362863 Gpx1 glutathione peroxidase 1 gene DOID:7998 hyperthyroidism ISO RGD:737005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19914224 10362863 Gpx1 glutathione peroxidase 1 gene DOID:83 cataract ISO RGD:2729 D RGD:9068941 20200609 RGD PMID:23194826|REF_RGD_ID:11353787 10362863 Gpx1 glutathione peroxidase 1 gene DOID:8552 chronic myeloid leukemia no_association ISO RGD:737005 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.P198L (human) PMID:25436036|REF_RGD_ID:11352762 10362863 Gpx1 glutathione peroxidase 1 gene DOID:8577 ulcerative colitis ISO RGD:737005 D RGD:9068941 20200609 RGD protein:decreased expression:erythrocyte PMID:20186929|REF_RGD_ID:11352754 10362863 Gpx1 glutathione peroxidase 1 gene DOID:8725 vascular dementia treatment ISO RGD:2729 D RGD:9068941 20200609 RGD PMID:24968700|REF_RGD_ID:11352822 10362863 Gpx1 glutathione peroxidase 1 gene DOID:8778 Crohn's disease ISO RGD:737005 D RGD:9068941 20200609 RGD protein:decreased expression:erythrocyte PMID:20186929|REF_RGD_ID:11352754 10362863 Gpx1 glutathione peroxidase 1 gene DOID:8923 skin melanoma ISO RGD:737005 D RGD:9068941 20220428 RGD mRNA:increased expression:skin of body (human) PMID:29535818|REF_RGD_ID:152023655 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:737005 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35764155 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9000582 Reticulocytosis ISO RGD:737005 D RGD:9068941 20200609 RGD PMID:6320862|REF_RGD_ID:11353799 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9000998 Brain Injuries ISO RGD:2729 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus, neuron PMID:15791111|REF_RGD_ID:2306624 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9001109 Anorexia treatment ISO RGD:737005 D RGD:9068941 20200609 RGD associated with Uremia PMID:12005352|REF_RGD_ID:11352773 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9001191 Cadmium Poisoning treatment ISO RGD:2729 D RGD:9068941 20200609 RGD PMID:24954678|REF_RGD_ID:11352769 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:737005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9001686 Acute Coronary Syndrome ISO RGD:737005 D RGD:9068941 20230928 RGD mRNA, protein:increased expression:blood, plasma PMID:28298473|REF_RGD_ID:401827171 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:10681 D RGD:9068941 20200609 RGD protein:increased expression:glomerulus PMID:17609286|REF_RGD_ID:2306609 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:737005 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1 PMID:16249459|REF_RGD_ID:11068479 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:2729 D RGD:9068941 20231005 RGD associated with Experimental Diabetes Mellitus PMID:32592386|REF_RGD_ID:401827869 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:737005 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:16844917|REF_RGD_ID:2306611 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9003298 Glutathione Peroxidase Deficiency, Hemolytic Anemia possibly due to ISO RGD:737005 D RGD:7240710 20180130 OMIM 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9003298 Glutathione Peroxidase Deficiency, Hemolytic Anemia possibly due to ISO RGD:737005 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Glutathione peroxidase deficiency PMID:10220143|PMID:25741868 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9003603 Hemolysis ISO RGD:737005 D RGD:9068941 20200609 RGD following reinfusion of stored blood PMID:5766310|REF_RGD_ID:1600671 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9003709 Mercury Poisoning ISO RGD:10681 D RGD:9068941 20200609 RGD PMID:18758054|REF_RGD_ID:7240571 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9003871 Venous Thrombosis ISO RGD:10681 D RGD:9068941 20200609 RGD PMID:23426106|REF_RGD_ID:11352755 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9004009 Reperfusion Injury ISO RGD:737005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23743330 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9004786 Carbon Tetrachloride Poisoning ISO RGD:2729 D RGD:9068941 20231007 RGD PMID:18306454|REF_RGD_ID:2312624 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9005172 Lung Neoplasms ISO RGD:737005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11103801 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2729 D RGD:9068941 20200609 RGD PMID:18387670|REF_RGD_ID:2306607 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2729 D RGD:9068941 20200609 RGD protein:increased expression:glomerulus PMID:15039483|REF_RGD_ID:2306161 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2729 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:19229592|REF_RGD_ID:2306606 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:737005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:2729 D RGD:9068941 20200609 RGD PMID:25744399|REF_RGD_ID:11353782 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9005725 Iron Overload ISO RGD:737005 D RGD:9068941 20200609 RGD associated with Beta-Thalassemia PMID:16317757|REF_RGD_ID:11352779 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9006169 Head and Neck Neoplasms ISO RGD:737005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15557674 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9006302 Binge Drinking ISO RGD:2729 D RGD:9068941 20231005 RGD protein:decreased expression:liver PMID:25864381|REF_RGD_ID:401827870 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9006553 Hyperthermia ISO RGD:737005 D RGD:9068941 20211015 CTD CTD Direct Evidence: therapeutic PMID:34082047 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9007188 Liver Neoplasms treatment ISO RGD:10681 D RGD:9068941 20220623 RGD PMID:26147624|REF_RGD_ID:152995453 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9008510 Chronic Hepatitis ISO RGD:737005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25053573 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9008691 Liver Injury treatment ISO RGD:2729 D RGD:9068941 20200609 RGD PMID:23750655|REF_RGD_ID:11353785 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:737005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12810669 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:737005 D RGD:9068941 20200609 RGD DNA:SNP: :c.599C>T (rs1050450) (human) PMID:26950655|REF_RGD_ID:11061784 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:737005 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.P198L (human) PMID:26823947|REF_RGD_ID:11061561 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9119 acute myeloid leukemia treatment ISO RGD:737005 D RGD:9068941 20200609 RGD PMID:22930375|REF_RGD_ID:11352817 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9256 colorectal cancer ISO RGD:737005 D RGD:9068941 20220428 RGD mRNA:decreased expression:colorectum (human) PMID:25550558|REF_RGD_ID:152023662 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9256 colorectal cancer susceptibility ISO RGD:737005 D RGD:9068941 20220428 RGD DNA:missense mutation:CDS:p.P198L (human) PMID:19428376|REF_RGD_ID:152023636 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9261 nasopharynx carcinoma susceptibility ISO RGD:737005 D RGD:9068941 20220623 RGD DNA:missense mutation:CDS:p.P198L (human) PMID:33616746|REF_RGD_ID:152995452 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9268 glycine encephalopathy ISO RGD:737005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glycine encephalopathy PMID:28492532 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9279 hyperhomocysteinemia treatment ISO RGD:2729 D RGD:9068941 20200609 RGD PMID:24563435|REF_RGD_ID:11035307 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366|PMID:23795780 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9452 steatotic liver disease ISO RGD:737005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10860543 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9452 steatotic liver disease treatment ISO RGD:2729 D RGD:9068941 20240201 RGD PMID:30298849|REF_RGD_ID:401960083 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9538 multiple myeloma ISO RGD:737005 D RGD:9068941 20200609 RGD PMID:8599825|REF_RGD_ID:11352777 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9669 senile cataract ISO RGD:10681 D RGD:9068941 20200609 RGD PMID:16129095|REF_RGD_ID:10003112 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:737005 D RGD:9068941 20200609 RGD PMID:24698347|REF_RGD_ID:11352812 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9952 acute lymphoblastic leukemia treatment ISO RGD:737005 D RGD:9068941 20200609 RGD PMID:17317918|REF_RGD_ID:11352774 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9970 obesity ISO RGD:737005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15184668 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9970 obesity treatment ISO RGD:2729 D RGD:9068941 20240201 RGD PMID:30298849|REF_RGD_ID:401960083 10364987 Scaf1 SR-related CTD associated factor 1 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:733391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 10364987 Scaf1 SR-related CTD associated factor 1 gene DOID:12849 autistic disorder ISO RGD:733391 D RGD:9068941 20221103 CTD CTD Direct Evidence: marker/mechanism PMID:35982159 10364987 Scaf1 SR-related CTD associated factor 1 gene DOID:783 end stage renal disease ISO RGD:708405 D RGD:9068941 20230914 RGD protein:increased expression:kidney (rat) PMID:19878707|REF_RGD_ID:2326081 10368661 LOC106149796 chromosome unknown open reading frame, human C2orf72 gene DOID:0060476 Perlman syndrome ISO RGD:2298740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 10368661 LOC106149796 chromosome unknown open reading frame, human C2orf72 gene DOID:0110991 Joubert syndrome 22 ISO RGD:2298740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 10371996 Fkbpl FKBP prolyl isomerase like gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1353952 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 10371996 Fkbpl FKBP prolyl isomerase like gene DOID:9008939 Breast Neoplasms ISO RGD:1353952 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20103631 10378497 Dcd dermcidin gene DOID:9007188 Liver Neoplasms ISO RGD:1349389 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20195826 10379226 LOC106146232 protein SCO2 homolog, mitochondrial gene DOID:0050700 cardiomyopathy ISO RGD:1347479 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16326995 10379226 LOC106146232 protein SCO2 homolog, mitochondrial gene DOID:0050713 COX deficiency, infantile mitochondrial myopathy ISO RGD:1347479 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency PMID:10545952|PMID:11673586|PMID:12020273|PMID:12529715|PMID:14970747|PMID:14994243|PMID:15210538|PMID:16326995|PMID:16765077|PMID:18924171|PMID:19879173|PMID:23407777|PMID:23643385|PMID:23719228|PMID:25058219|PMID:25741868|PMID:26467025|PMID:27290639|PMID:28492532|PMID:28798025|PMID:29193756|PMID:29351582|PMID:31589614|PMID:31623504|PMID:32668698|PMID:33098801|PMID:34426522|PMID:34691145|PMID:39825153 10379226 LOC106146232 protein SCO2 homolog, mitochondrial gene DOID:0060041 autism spectrum disorder ISO RGD:1347479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 10379226 LOC106146232 protein SCO2 homolog, mitochondrial gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1347479 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 10379226 LOC106146232 protein SCO2 homolog, mitochondrial gene DOID:0070491 mitochondrial complex IV deficiency nuclear type 1 ISO RGD:1347479 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Mitochondrial complex IV deficiency, nuclear type 1 PMID:12529715|PMID:23643385|PMID:25741868|PMID:25959673|PMID:26467025|PMID:28492532|PMID:28518168|PMID:32461654 10379226 LOC106146232 protein SCO2 homolog, mitochondrial gene DOID:0080119 mitochondrial DNA depletion syndrome 1 ISO RGD:1347479 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 (MNGIE type) | ClinVar Annotator: match by term: TYMP-related condition PMID:10852545|PMID:12177387|PMID:12529715|PMID:14720311|PMID:15781193|PMID:16198108|PMID:16199547|PMID:17437622|PMID:17576681|PMID:19056268|PMID:19748572|PMID:19853446|PMID:2005900|PMID:21412940|PMID:21933806|PMID:22618301|PMID:23590577|PMID:23643385|PMID:24033266|PMID:24215330|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31885962|PMID:36101829|PMID:37334785|PMID:9536098|PMID:9924029 10379226 LOC106146232 protein SCO2 homolog, mitochondrial gene DOID:0080127 mitochondrial DNA depletion syndrome 8A ISO RGD:1347479 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial neurogastrointestinal encephalopathy syndrome | ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION | ClinVar Annotator: match by term: Thymidine phosphorylase deficiency PMID:10852545|PMID:12529715|PMID:15781193|PMID:16198108|PMID:16199547|PMID:17576681|PMID:19056268|PMID:19853446|PMID:2005900|PMID:23643385|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098|PMID:9924029 10379226 LOC106146232 protein SCO2 homolog, mitochondrial gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1347479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 10379226 LOC106146232 protein SCO2 homolog, mitochondrial gene DOID:0080357 mitochondrial complex IV deficiency nuclear type 2 ISO RGD:1347479 D RGD:7240710 20180130 OMIM 10379226 LOC106146232 protein SCO2 homolog, mitochondrial gene DOID:0080357 mitochondrial complex IV deficiency nuclear type 2 ISO RGD:1347479 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 | ClinVar Annotator: match by term: SCO2-related condition PMID:10545952|PMID:10749987|PMID:11673586|PMID:12020273|PMID:12529715|PMID:14970747|PMID:14994243|PMID:15210538|PMID:16326995|PMID:16765077|PMID:18804471|PMID:18924171|PMID:19353847|PMID:19879173|PMID:20159436|PMID:20445193|PMID:23345593|PMID:23407777|PMID:23643385|PMID:23719228|PMID:24215330|PMID:25058219|PMID:25097374|PMID:25741868|PMID:25959673|PMID:26427993|PMID:26467025|PMID:27290639|PMID:27629047|PMID:28429146|PMID:28492532|PMID:28518168|PMID:28798025|PMID:29193756|PMID:29351582|PMID:30340907|PMID:30593977|PMID:31589614|PMID:31623504|PMID:31844624|PMID:31967322|PMID:32461654|PMID:32600061|PMID:32668698|PMID:33098801|PMID:33171185|PMID:34362006|PMID:34426522|PMID:34691145|PMID:34732400|PMID:34746378|PMID:35083221|PMID:35094435|PMID:36675121|PMID:36678915|PMID:39825153 10379226 LOC106146232 protein SCO2 homolog, mitochondrial gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1347479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 10379226 LOC106146232 protein SCO2 homolog, mitochondrial gene DOID:0110632 megaconial type congenital muscular dystrophy ISO RGD:1347479 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy PMID:21665002|PMID:28492532 10379226 LOC106146232 protein SCO2 homolog, mitochondrial gene DOID:10581 metachromatic leukodystrophy ISO RGD:1347479 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 10379226 LOC106146232 protein SCO2 homolog, mitochondrial gene DOID:1059 intellectual disability ISO RGD:1347479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 10379226 LOC106146232 protein SCO2 homolog, mitochondrial gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1347479 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11027508|PMID:14970747 10379226 LOC106146232 protein SCO2 homolog, mitochondrial gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1347479 D RGD:9068941 20200609 RGD PMID:10749987|REF_RGD_ID:1580020 10379226 LOC106146232 protein SCO2 homolog, mitochondrial gene DOID:12377 spinal muscular atrophy ISO RGD:1347479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy PMID:2005900|PMID:25741868|PMID:26467025|PMID:28492532 10379226 LOC106146232 protein SCO2 homolog, mitochondrial gene DOID:12930 dilated cardiomyopathy ISO RGD:1347479 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive PMID:20159436|PMID:25741868|PMID:28492532 10379226 LOC106146232 protein SCO2 homolog, mitochondrial gene DOID:12930 dilated cardiomyopathy ISO RGD:1347479 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10545952|PMID:15210538|PMID:19879173|PMID:20159436|PMID:25741868|PMID:28492532 10379226 LOC106146232 protein SCO2 homolog, mitochondrial gene DOID:1826 epilepsy ISO RGD:1347479 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Seizures PMID:10545952|PMID:11673586|PMID:12020273|PMID:14970747|PMID:14994243|PMID:15210538|PMID:16326995|PMID:16765077|PMID:18924171|PMID:19879173|PMID:23407777|PMID:23643385|PMID:23719228|PMID:25058219|PMID:25741868|PMID:27290639|PMID:28492532|PMID:28798025|PMID:29193756|PMID:29351582|PMID:31589614|PMID:31623504|PMID:32668698|PMID:33098801|PMID:34426522|PMID:34691145|PMID:39825153 10379226 LOC106146232 protein SCO2 homolog, mitochondrial gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:1347479 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: COX deficiency | ClinVar Annotator: match by term: Complex IV deficiency PMID:12529715|PMID:23643385|PMID:25741868|PMID:26467025|PMID:28492532 10379226 LOC106146232 protein SCO2 homolog, mitochondrial gene DOID:630 genetic disease ISO RGD:1347479 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15781193|PMID:16199547|PMID:17576681|PMID:19056268|PMID:22618301|PMID:23643385|PMID:25741868|PMID:25959673|PMID:28492532|PMID:28518168|PMID:32461654|PMID:9536098|PMID:9924029 10379226 LOC106146232 protein SCO2 homolog, mitochondrial gene DOID:890 mitochondrial encephalomyopathy ISO RGD:1347479 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16326995|PMID:23345593 10379226 LOC106146232 protein SCO2 homolog, mitochondrial gene DOID:9001263 Mitochondrial DNA Depletion Syndrome, MNGIE Type ISO RGD:1347479 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MNGIE syndrome | ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION PMID:10852545|PMID:12529715|PMID:15781193|PMID:16198108|PMID:16199547|PMID:17576681|PMID:19056268|PMID:19853446|PMID:2005900|PMID:23643385|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098|PMID:9924029 10379226 LOC106146232 protein SCO2 homolog, mitochondrial gene DOID:9001488 Human Influenza ISO RGD:1347479 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 10379226 LOC106146232 protein SCO2 homolog, mitochondrial gene DOID:9004853 Myopia 6 ISO RGD:1347479 D RGD:7240710 20180130 OMIM 10379226 LOC106146232 protein SCO2 homolog, mitochondrial gene DOID:9004853 Myopia 6 ISO RGD:1347479 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Myopia 6 PMID:10545952|PMID:10749987|PMID:11673586|PMID:12020273|PMID:14970747|PMID:14994243|PMID:15210538|PMID:16326995|PMID:16765077|PMID:18924171|PMID:19879173|PMID:23407777|PMID:23643385|PMID:23719228|PMID:25058219|PMID:25741868|PMID:25959673|PMID:27290639|PMID:28492532|PMID:28518168|PMID:28798025|PMID:29193756|PMID:29351582|PMID:31589614|PMID:31623504|PMID:32461654|PMID:32668698|PMID:33098801|PMID:33171185|PMID:34426522|PMID:34691145|PMID:39825153 10379226 LOC106146232 protein SCO2 homolog, mitochondrial gene DOID:9005683 Metabolic Brain Diseases, Inborn ISO RGD:1347479 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23345593 10379234 Znf565 zinc finger protein 565 gene DOID:5419 schizophrenia ISO RGD:1344264 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21743468 10379602 Homez homeobox and leucine zipper encoding gene DOID:0060439 lysinuric protein intolerance ISO RGD:735425 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 10379602 Homez homeobox and leucine zipper encoding gene DOID:9000265 Specific Granule Deficiency ISO RGD:735425 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:11313242|PMID:11435463|PMID:28492532 10379602 Homez homeobox and leucine zipper encoding gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:735425 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 10381358 Stmp1 short transmembrane mitochondrial protein 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:5480038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 10388026 Prss57 serine protease 57 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1342482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 10388026 Prss57 serine protease 57 gene DOID:0080600 COVID-19 ISO RGD:1342482 D RGD:9068941 20200613 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 10388026 Prss57 serine protease 57 gene DOID:2843 long QT syndrome ISO RGD:1342482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 10388026 Prss57 serine protease 57 gene DOID:5339 cyclic hematopoiesis ISO RGD:1342482 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 10392019 Chml CHM like Rab escort protein gene DOID:0111261 fumarase deficiency ISO RGD:1313260 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fumarase deficiency PMID:11865300|PMID:12761039|PMID:21398687|PMID:22069215|PMID:28300276|PMID:28492532 10392019 Chml CHM like Rab escort protein gene DOID:1540 parathyroid carcinoma ISO RGD:1313260 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 10392019 Chml CHM like Rab escort protein gene DOID:2841 asthma ISO RGD:1313260 D RGD:9068941 20200609 RGD PMID:18343558|REF_RGD_ID:5133238 10392019 Chml CHM like Rab escort protein gene DOID:9002186 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 ISO RGD:1313260 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 PMID:28492532 10392019 Chml CHM like Rab escort protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313260 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 10392019 Chml CHM like Rab escort protein gene DOID:9005510 Hereditary Leiomyomatosis and Renal Cell Cancer ISO RGD:1313260 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer PMID:29909963 10392019 Chml CHM like Rab escort protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313260 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 10392057 Cdc25c cell division cycle 25C gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1323559 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 10392057 Cdc25c cell division cycle 25C gene DOID:0080365 endometrial hyperplasia ISO RGD:1323559 D RGD:9068941 20200609 RGD PMID:12931023|REF_RGD_ID:4105452 10392057 Cdc25c cell division cycle 25C gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1323559 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 10392057 Cdc25c cell division cycle 25C gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1323559 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 10392057 Cdc25c cell division cycle 25C gene DOID:10283 prostate cancer ISO RGD:1323559 D RGD:9068941 20200609 RGD PMID:12896904|PMID:16140946|PMID:17460776|REF_RGD_ID:2756028|REF_RGD_ID:2774210|REF_RGD_ID:4105453 10392057 Cdc25c cell division cycle 25C gene DOID:10283 prostate cancer ISO RGD:1323559 D RGD:9068941 20200609 RGD mRNA, protein:alternative form, increased expression, increased activity:prostate gland PMID:16000564|REF_RGD_ID:2776427 10392057 Cdc25c cell division cycle 25C gene DOID:1380 endometrial cancer ISO RGD:1323559 D RGD:9068941 20200609 RGD DNA:mutation (human) PMID:12124347|REF_RGD_ID:4105455 10392057 Cdc25c cell division cycle 25C gene DOID:1612 breast cancer ISO RGD:1323559 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:15567944|REF_RGD_ID:4105448 10392057 Cdc25c cell division cycle 25C gene DOID:2101 vulva squamous cell carcinoma disease_progression ISO RGD:1323559 D RGD:9068941 20200609 RGD protein:increased expression:vulva PMID:20500813|REF_RGD_ID:2729590 10392057 Cdc25c cell division cycle 25C gene DOID:4362 cervical cancer ISO RGD:1323559 D RGD:9068941 20200609 RGD PMID:15289842|REF_RGD_ID:4105450 10392057 Cdc25c cell division cycle 25C gene DOID:684 hepatocellular carcinoma ISO RGD:1323559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 10392057 Cdc25c cell division cycle 25C gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323559 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 10392057 Cdc25c cell division cycle 25C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1323559 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 10392057 Cdc25c cell division cycle 25C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1323559 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8699521 Tex30 testis expressed 30 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1605014 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:28492532 8699521 Tex30 testis expressed 30 gene DOID:14701 propionic acidemia ISO RGD:1605014 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:28492532 8699521 Tex30 testis expressed 30 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1605014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 8699521 Tex30 testis expressed 30 gene DOID:9009063 Evans Syndrome, Immunodeficiency, and Premature Immunosenescence associated with Tripeptidyl-Peptidase II Deficiency ISO RGD:1605014 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency PMID:25414442|PMID:28492532 8699537 Entrep1 endosomal transmembrane epsin interactor 1 gene DOID:10283 prostate cancer ISO RGD:1316770 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8699556 Ephx2 epoxide hydrolase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:731054 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:30890645|PMID:35663546 8699556 Ephx2 epoxide hydrolase 2 gene DOID:0060319 cardiac arrest ISO RGD:731055 D RGD:9068941 20200609 RGD PMID:17728042|REF_RGD_ID:5688386 8699556 Ephx2 epoxide hydrolase 2 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:731054 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 8699556 Ephx2 epoxide hydrolase 2 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:731054 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 8699556 Ephx2 epoxide hydrolase 2 gene DOID:10763 hypertension ISO RGD:620732 D RGD:9068941 20200609 RGD PMID:16157792|PMID:21720266|REF_RGD_ID:1580985|REF_RGD_ID:5688733 8699556 Ephx2 epoxide hydrolase 2 gene DOID:10763 hypertension ISO RGD:731055 D RGD:9068941 20200609 RGD PMID:11001943|PMID:19553349|REF_RGD_ID:1580987|REF_RGD_ID:5688730 8699556 Ephx2 epoxide hydrolase 2 gene DOID:10763 hypertension susceptibility ISO RGD:731054 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.K55R (human) PMID:20065888|REF_RGD_ID:5688727 8699556 Ephx2 epoxide hydrolase 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:620732 D RGD:9068941 20230831 RGD mRNA, protein:increased expression:heart (rat) PMID:19889059|REF_RGD_ID:401794453 8699556 Ephx2 epoxide hydrolase 2 gene DOID:13810 familial hypercholesterolemia ISO RGD:731054 D RGD:7240710 20180130 OMIM 8699556 Ephx2 epoxide hydrolase 2 gene DOID:13810 familial hypercholesterolemia ISO RGD:731054 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:10862610|PMID:12522687|PMID:12869654|PMID:14673705|PMID:14732757|PMID:15845398|PMID:25741868 8699556 Ephx2 epoxide hydrolase 2 gene DOID:14330 Parkinson's disease no_association ISO RGD:731054 D RGD:9068941 20200609 RGD DNA:missense mutation, insertion:exons:p.R287Q (898G>A), p.S402_R403insR (1246_1247insTCG) (human) PMID:11692079|REF_RGD_ID:5688390 8699556 Ephx2 epoxide hydrolase 2 gene DOID:1936 atherosclerosis ISO RGD:731055 D RGD:9068941 20200609 RGD PMID:20224052|REF_RGD_ID:5688357 8699556 Ephx2 epoxide hydrolase 2 gene DOID:3021 acute kidney failure ISO RGD:731054 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:26165641 8699556 Ephx2 epoxide hydrolase 2 gene DOID:3393 coronary artery disease ISO RGD:731054 D RGD:9068941 20200609 RGD PMID:14732757|REF_RGD_ID:1580982 8699556 Ephx2 epoxide hydrolase 2 gene DOID:3526 cerebral infarction ISO RGD:620732 D RGD:9068941 20200609 RGD PMID:16306811|REF_RGD_ID:1580986 8699556 Ephx2 epoxide hydrolase 2 gene DOID:5419 schizophrenia ISO RGD:731054 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30890645 8699556 Ephx2 epoxide hydrolase 2 gene DOID:5844 myocardial infarction ISO RGD:731055 D RGD:9068941 20200609 RGD PMID:19716829|REF_RGD_ID:5688358 8699556 Ephx2 epoxide hydrolase 2 gene DOID:6000 congestive heart failure ISO RGD:731054 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18443590 8699556 Ephx2 epoxide hydrolase 2 gene DOID:6432 pulmonary hypertension ISO RGD:620732 D RGD:9068941 20200609 RGD PMID:19226702|REF_RGD_ID:5688731 8699556 Ephx2 epoxide hydrolase 2 gene DOID:783 end stage renal disease disease_progression ISO RGD:731055 D RGD:9068941 20200609 RGD PMID:20694143|REF_RGD_ID:5688726 8699556 Ephx2 epoxide hydrolase 2 gene DOID:9000146 Plaque, Atherosclerotic susceptibility ISO RGD:731054 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes:exon, intron:p.R287Q, IVS11-883C>G (rs751141, rs721619) (human) PMID:16545818|REF_RGD_ID:5688389 8699556 Ephx2 epoxide hydrolase 2 gene DOID:9000528 Coronary Disease ISO RGD:731054 D RGD:9068941 20200609 RGD PMID:16595607|REF_RGD_ID:1580981 8699556 Ephx2 epoxide hydrolase 2 gene DOID:9000998 Brain Injuries ISO RGD:731055 D RGD:9068941 20200609 RGD PMID:21075124|REF_RGD_ID:5688356 8699556 Ephx2 epoxide hydrolase 2 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:731054 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19834332 8699556 Ephx2 epoxide hydrolase 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:731055 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21832210|REF_RGD_ID:5688728 8699556 Ephx2 epoxide hydrolase 2 gene DOID:9002211 Hyperalgesia ISO RGD:620732 D RGD:9068941 20200609 RGD PMID:16962614|REF_RGD_ID:5688387 8699556 Ephx2 epoxide hydrolase 2 gene DOID:9004009 Reperfusion Injury ISO RGD:731055 D RGD:9068941 20200609 RGD PMID:19471280|REF_RGD_ID:5688359 8699556 Ephx2 epoxide hydrolase 2 gene DOID:9004610 Acute Lung Injury ISO RGD:620732 D RGD:9068941 20200609 RGD PMID:22051199|REF_RGD_ID:5688354 8699556 Ephx2 epoxide hydrolase 2 gene DOID:9005930 Endotoxemia ISO RGD:731055 D RGD:9068941 20200609 RGD PMID:19154430|REF_RGD_ID:5688360 8699556 Ephx2 epoxide hydrolase 2 gene DOID:9006646 Metabolic Syndrome ISO RGD:620732 D RGD:9068941 20200609 RGD PMID:22007192|REF_RGD_ID:5688391 8699556 Ephx2 epoxide hydrolase 2 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:731054 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:26165641 8699556 Ephx2 epoxide hydrolase 2 gene DOID:9007096 Stroke ISO RGD:620732 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:promoter:-255T>C, -111G>A, 25C>T (rat) PMID:18086949|REF_RGD_ID:5688363 8699556 Ephx2 epoxide hydrolase 2 gene DOID:9007096 Stroke susceptibility ISO RGD:731054 D RGD:9068941 20200609 RGD DNA:SNP:intron:IVS16 (rs2291635) (human) PMID:18323494|REF_RGD_ID:5688362 8699556 Ephx2 epoxide hydrolase 2 gene DOID:9007096 Stroke susceptibility ISO RGD:731054 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.K55R (human) PMID:20065888|REF_RGD_ID:5688727 8699556 Ephx2 epoxide hydrolase 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:731054 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29298899 8699556 Ephx2 epoxide hydrolase 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:731054 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19834332 8699603 Pank4 pantothenate kinase 4 (inactive) gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:731329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8699603 Pank4 pantothenate kinase 4 (inactive) gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:731329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8699603 Pank4 pantothenate kinase 4 (inactive) gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:731329 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:23892090|PMID:28492532|PMID:31602316 8699603 Pank4 pantothenate kinase 4 (inactive) gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:731329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 8699603 Pank4 pantothenate kinase 4 (inactive) gene DOID:0110994 Joubert syndrome 25 ISO RGD:731329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8699603 Pank4 pantothenate kinase 4 (inactive) gene DOID:0111934 immunodeficiency 38 ISO RGD:731329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8699603 Pank4 pantothenate kinase 4 (inactive) gene DOID:0111935 immunodeficiency 16 ISO RGD:731329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8699603 Pank4 pantothenate kinase 4 (inactive) gene DOID:83 cataract ISO RGD:1550985 D RGD:9068941 20220825 MouseDO OMIM:601371 8699603 Pank4 pantothenate kinase 4 (inactive) gene DOID:9001743 Cataract 49 ISO RGD:731329 D RGD:7240710 20211110 OMIM 8699603 Pank4 pantothenate kinase 4 (inactive) gene DOID:9001743 Cataract 49 ISO RGD:731329 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Cataract 49 PMID:25741868|PMID:30585370 8699603 Pank4 pantothenate kinase 4 (inactive) gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8699603 Pank4 pantothenate kinase 4 (inactive) gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:731329 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:23892090|PMID:28492532|PMID:31602316 8699603 Pank4 pantothenate kinase 4 (inactive) gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:731329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8699652 Lig1 DNA ligase 1 gene DOID:0061066 immunodeficiency 96 ISO RGD:731763 D RGD:7240710 20220316 OMIM 8699652 Lig1 DNA ligase 1 gene DOID:0061066 immunodeficiency 96 ISO RGD:731763 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency 96 | ClinVar Annotator: match by term: LIG1-related condition PMID:1581963|PMID:17576681|PMID:19223467|PMID:25741868|PMID:28492532|PMID:30395541|PMID:32888943|PMID:32914844|PMID:33444456|PMID:33600799|PMID:9536098 8699652 Lig1 DNA ligase 1 gene DOID:11054 urinary bladder cancer ISO RGD:731763 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8631603 8699652 Lig1 DNA ligase 1 gene DOID:612 primary immunodeficiency disease ISO RGD:731763 D RGD:9068941 20200609 RGD DNA ligase I deficiency PMID:1351188|REF_RGD_ID:1600089 8699652 Lig1 DNA ligase 1 gene DOID:655 inherited metabolic disorder ISO RGD:731763 D RGD:9068941 20200609 RGD DNA ligase I deficiency PMID:1351188|REF_RGD_ID:1600089 8699652 Lig1 DNA ligase 1 gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:621424 D RGD:9068941 20200609 RGD PMID:30813600|REF_RGD_ID:14995940 8699706 Dnaaf11 dynein axonemal assembly factor 11 gene DOID:0050144 Kartagener syndrome ISO RGD:1351490 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kartagener syndrome PMID:23122589|PMID:23891469|PMID:24307375|PMID:26139845|PMID:28492532 8699706 Dnaaf11 dynein axonemal assembly factor 11 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1351490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:28492532 8699706 Dnaaf11 dynein axonemal assembly factor 11 gene DOID:0050545 visceral heterotaxy ISO RGD:1351490 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Situs ambiguus PMID:20301301|PMID:23122589|PMID:23527195|PMID:23891469|PMID:25741868|PMID:28492532 8699706 Dnaaf11 dynein axonemal assembly factor 11 gene DOID:0110594 primary ciliary dyskinesia 1 ISO RGD:1351490 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 1, WITH OR WITHOUT SITUS INVERSUS PMID:23122589|PMID:23891469|PMID:24307375|PMID:26139845|PMID:28492532 8699706 Dnaaf11 dynein axonemal assembly factor 11 gene DOID:0110608 primary ciliary dyskinesia 19 ISO RGD:1351490 D RGD:7240710 20180130 OMIM 8699706 Dnaaf11 dynein axonemal assembly factor 11 gene DOID:0110608 primary ciliary dyskinesia 19 ISO RGD:1351490 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: DNAAF11-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 19 PMID:16199547|PMID:17576681|PMID:20301301|PMID:23122589|PMID:23527195|PMID:23891469|PMID:24033266|PMID:24307375|PMID:25640679|PMID:25741868|PMID:26139845|PMID:26228299|PMID:27637300|PMID:28492532|PMID:30300419|PMID:31650533|PMID:36515799|PMID:9536098 8699706 Dnaaf11 dynein axonemal assembly factor 11 gene DOID:14264 benign neonatal seizures ISO RGD:1351490 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Benign neonatal seizures PMID:28492532|PMID:29383681|PMID:29852413 8699706 Dnaaf11 dynein axonemal assembly factor 11 gene DOID:2377 multiple sclerosis ISO RGD:1351490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple sclerosis, susceptibility to PMID:25741868|PMID:28492532 8699706 Dnaaf11 dynein axonemal assembly factor 11 gene DOID:5223 infertility ISO RGD:1351490 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Infertility PMID:28492532|PMID:30300419 8699706 Dnaaf11 dynein axonemal assembly factor 11 gene DOID:758 visceral heterotaxy 5 ISO RGD:1351490 D RGD:8554872 20250204 ClinVar ClinVar Annotator: match by term: Laterality sequence PMID:20301301|PMID:23122589|PMID:23527195|PMID:23891469|PMID:25741868|PMID:28492532 8699706 Dnaaf11 dynein axonemal assembly factor 11 gene DOID:9001591 Ciliary Motility Disorders ISO RGD:1351490 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: IMMOTILE CILIA SYNDROME PMID:23122589|PMID:23891469|PMID:24307375|PMID:26139845|PMID:28492532 8699706 Dnaaf11 dynein axonemal assembly factor 11 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1351490 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:20301301|PMID:23122589|PMID:23527195|PMID:23891469|PMID:24033266|PMID:24307375|PMID:25741868|PMID:26139845|PMID:26228299|PMID:27637300|PMID:28492532 8699706 Dnaaf11 dynein axonemal assembly factor 11 gene DOID:9563 bronchiectasis ISO RGD:1351490 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: POLYNESIAN BRONCHIECTASIS PMID:23122589|PMID:23891469|PMID:24307375|PMID:26139845|PMID:28492532 8699729 Gpnmb glycoprotein nmb gene DOID:0060680 pigment dispersion syndrome ISO RGD:733525 D RGD:9068941 20220825 MouseDO OMIM:600510 8699729 Gpnmb glycoprotein nmb gene DOID:0080600 COVID-19 ISO RGD:736300 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8699729 Gpnmb glycoprotein nmb gene DOID:0080932 primary localized cutaneous amyloidosis 3 ISO RGD:736300 D RGD:7240710 20190315 OMIM 8699729 Gpnmb glycoprotein nmb gene DOID:0080932 primary localized cutaneous amyloidosis 3 ISO RGD:736300 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AMYLOIDOSIS CUTIS DYSCHROMICA | ClinVar Annotator: match by term: Amyloidosis, primary localized cutaneous, 3 | ClinVar Annotator: match by term: GPNMB-related condition PMID:19416385|PMID:25741868|PMID:25866143|PMID:28492532|PMID:29336782 8699729 Gpnmb glycoprotein nmb gene DOID:3021 acute kidney failure ISO RGD:736300 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23052191 8699729 Gpnmb glycoprotein nmb gene DOID:3454 brain infarction ISO RGD:71008 D RGD:9068941 20230527 RGD mRNA:increased expression:brain (rat) PMID:23251410|REF_RGD_ID:329845556 8699729 Gpnmb glycoprotein nmb gene DOID:3587 pancreatic ductal carcinoma ISO RGD:736300 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24979617 8699729 Gpnmb glycoprotein nmb gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8699729 Gpnmb glycoprotein nmb gene DOID:630 genetic disease ISO RGD:736300 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8699729 Gpnmb glycoprotein nmb gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736300 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8699729 Gpnmb glycoprotein nmb gene DOID:9004590 Acute Liver Failure ISO RGD:736300 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15763343 8699729 Gpnmb glycoprotein nmb gene DOID:9008443 Colorectal Neoplasms ISO RGD:736300 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500|PMID:21278247 8699729 Gpnmb glycoprotein nmb gene DOID:9008939 Breast Neoplasms ISO RGD:736300 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500 8699748 Stra8 stimulated by retinoic acid 8 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8699771 Hps4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 gene DOID:0050632 oculocutaneous albinism ISO RGD:1317629 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oculocutaneous albinism PMID:24033266|PMID:25741868|PMID:28492532 8699771 Hps4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 gene DOID:0060539 Hermansky-Pudlak syndrome 1 ISO RGD:1317629 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells PMID:28492532 8699771 Hps4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 gene DOID:0060542 Hermansky-Pudlak syndrome 4 ISO RGD:1317629 D RGD:7240710 20180130 OMIM 8699771 Hps4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 gene DOID:0060542 Hermansky-Pudlak syndrome 4 ISO RGD:1317629 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: HPS4-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 4 PMID:11836498|PMID:12664304|PMID:15108212|PMID:16199547|PMID:18463683|PMID:20158590|PMID:21833017|PMID:24033266|PMID:25741868|PMID:27176668|PMID:28492532|PMID:28983057|PMID:29600982|PMID:30985222|PMID:30990103|PMID:31898847|PMID:37647632 8699771 Hps4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 gene DOID:0060971 interstitial lung disease 2 ISO RGD:1317629 D RGD:8554872 20240702 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 8699771 Hps4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 gene DOID:0110271 cataract 23 ISO RGD:1317629 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cataract 23 PMID:28492532 8699771 Hps4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 gene DOID:2223 platelet storage pool deficiency ISO RGD:1317630 D RGD:9068941 20220825 MouseDO OMIM:185050 8699771 Hps4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:1317629 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome PMID:12664304|PMID:24033266|PMID:25741868|PMID:26575419|PMID:28492532|PMID:29600982|PMID:31898847 8699771 Hps4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 gene DOID:5419 schizophrenia susceptibility ISO RGD:1317629 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:multiple: PMID:23563589|REF_RGD_ID:11353873 8699771 Hps4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 gene DOID:630 genetic disease ISO RGD:1317629 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11836498|PMID:12664304|PMID:15108212|PMID:25741868|PMID:28492532|PMID:28983057|PMID:30985222|PMID:30990103 8699801 Dlx1 distal-less homeobox 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1320012 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21302352 8699801 Dlx1 distal-less homeobox 1 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1320012 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 8699801 Dlx1 distal-less homeobox 1 gene DOID:12849 autistic disorder ISO RGD:1320012 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18728693 8699801 Dlx1 distal-less homeobox 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1320012 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9187081 8699819 Smarce1 SWI/SNF related BAF chromatin remodeling complex subunit E1 gene DOID:0050567 orofacial cleft ISO RGD:1313743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Facial cleft PMID:25741868 8699819 Smarce1 SWI/SNF related BAF chromatin remodeling complex subunit E1 gene DOID:0070618 rhabdoid tumor predisposition syndrome 1 ISO RGD:1313743 D RGD:8554872 20241105 ClinVar ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1 PMID:25741868|PMID:28492532 8699819 Smarce1 SWI/SNF related BAF chromatin remodeling complex subunit E1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1313743 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 8699819 Smarce1 SWI/SNF related BAF chromatin remodeling complex subunit E1 gene DOID:0112368 Coffin-Siris syndrome 5 ISO RGD:1313743 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome 5 PMID:22426308|PMID:23906836|PMID:25741868|PMID:28492532|PMID:35980532|PMID:37500730 8699819 Smarce1 SWI/SNF related BAF chromatin remodeling complex subunit E1 gene DOID:0112368 Coffin-Siris syndrome 5 susceptibility ISO RGD:1313743 D RGD:7240710 20250312 OMIM 8699819 Smarce1 SWI/SNF related BAF chromatin remodeling complex subunit E1 gene DOID:1059 intellectual disability ISO RGD:1313743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8699819 Smarce1 SWI/SNF related BAF chromatin remodeling complex subunit E1 gene DOID:1925 Coffin-Siris syndrome ISO RGD:1313743 D RGD:9068941 20221110 CTD CTD Direct Evidence: marker/mechanism PMID:22426308 8699819 Smarce1 SWI/SNF related BAF chromatin remodeling complex subunit E1 gene DOID:3565 meningioma ISO RGD:1313743 D RGD:9068941 20220414 RGD DNA:multiple:multiple (human) PMID:29409008|REF_RGD_ID:151708704 8699819 Smarce1 SWI/SNF related BAF chromatin remodeling complex subunit E1 gene DOID:3565 meningioma ISO RGD:1313743 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:35681054 8699819 Smarce1 SWI/SNF related BAF chromatin remodeling complex subunit E1 gene DOID:4586 familial meningioma ISO RGD:1313743 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Familial meningioma | ClinVar Annotator: match by term: Meningioma, familial, susceptibility to PMID:16199547|PMID:17576681|PMID:22426308|PMID:23377182|PMID:23556151|PMID:23929686|PMID:25143307|PMID:25169753|PMID:25741868|PMID:26803492|PMID:27264197|PMID:27891692|PMID:28492532|PMID:29625052|PMID:30209809|PMID:31675646|PMID:33020650|PMID:35980532|PMID:37164167|PMID:37500730|PMID:9536098 8699819 Smarce1 SWI/SNF related BAF chromatin remodeling complex subunit E1 gene DOID:4586 familial meningioma susceptibility ISO RGD:1313743 D RGD:7240710 20250312 OMIM 8699819 Smarce1 SWI/SNF related BAF chromatin remodeling complex subunit E1 gene DOID:630 genetic disease ISO RGD:1313743 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8699819 Smarce1 SWI/SNF related BAF chromatin remodeling complex subunit E1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313743 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome PMID:16199547|PMID:17576681|PMID:23377182|PMID:25143307|PMID:25168959|PMID:25169753|PMID:25741868|PMID:26803492|PMID:27891692|PMID:28492532|PMID:29625052|PMID:30209809|PMID:9536098 8699819 Smarce1 SWI/SNF related BAF chromatin remodeling complex subunit E1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313743 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:17576681|PMID:23377182|PMID:25143307|PMID:25168959|PMID:25169753|PMID:25741868|PMID:26803492|PMID:27891692|PMID:28492532|PMID:29625052|PMID:30209809|PMID:35980532|PMID:37500730|PMID:9536098 8699839 Six1 SIX homeobox 1 gene DOID:0050564 autosomal dominant nonsyndromic deafness ISO RGD:731648 D RGD:8554872 20240820 ClinVar ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss PMID:25741868 8699839 Six1 SIX homeobox 1 gene DOID:0060232 branchiootic syndrome ISO RGD:731648 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Branchiootic syndrome PMID:12843324|PMID:15141091|PMID:16652090|PMID:19497856|PMID:21254961|PMID:21280147|PMID:25326635|PMID:25741868|PMID:25788563|PMID:28492532|PMID:30311386 8699839 Six1 SIX homeobox 1 gene DOID:0110553 autosomal dominant nonsyndromic deafness 23 ISO RGD:731648 D RGD:7240710 20180130 OMIM 8699839 Six1 SIX homeobox 1 gene DOID:0110553 autosomal dominant nonsyndromic deafness 23 ISO RGD:731648 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 23 PMID:10777717|PMID:12843324|PMID:15141091|PMID:16652090|PMID:16971658|PMID:19497856|PMID:21254961|PMID:21280147|PMID:21700001|PMID:23435380|PMID:24033266|PMID:25326635|PMID:25741868|PMID:25788563|PMID:28492532|PMID:30311386|PMID:35802133|PMID:36633841|PMID:37479820 8699839 Six1 SIX homeobox 1 gene DOID:0111423 branchiootorenal syndrome 1 ISO RGD:731648 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Branchiootorenal Syndrome 1 | ClinVar Annotator: match by term: Branchiootorenal syndrome 1 PMID:12843324|PMID:15141091|PMID:16652090|PMID:19497856|PMID:21254961|PMID:21280147|PMID:24033266|PMID:25326635|PMID:25741868|PMID:25788563|PMID:28492532|PMID:30311386 8699839 Six1 SIX homeobox 1 gene DOID:14702 branchiootorenal syndrome ISO RGD:731648 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Branchiootorenal Spectrum Disorders | ClinVar Annotator: match by term: Melnick-Fraser syndrome PMID:18330911|PMID:24164807|PMID:25741868 8699839 Six1 SIX homeobox 1 gene DOID:1612 breast cancer severity ISO RGD:731648 D RGD:9068941 20200609 RGD mRNA:increased expression:breast epithelium (human) PMID:9770533|REF_RGD_ID:11561960 8699839 Six1 SIX homeobox 1 gene DOID:2154 nephroblastoma ISO RGD:731648 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28825729 8699839 Six1 SIX homeobox 1 gene DOID:2154 nephroblastoma severity ISO RGD:731648 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.Q177R (human) PMID:25670083|REF_RGD_ID:11561953 8699839 Six1 SIX homeobox 1 gene DOID:2154 nephroblastoma severity ISO RGD:731648 D RGD:9068941 20200609 RGD protein:increased expression:kidney, blastema (human) PMID:22180226|REF_RGD_ID:11561963 8699839 Six1 SIX homeobox 1 gene DOID:3192 neurilemmoma ISO RGD:731648 D RGD:9068941 20200609 RGD mRNA:increased expression:Schwann cell (human) PMID:19901965|REF_RGD_ID:11561959 8699839 Six1 SIX homeobox 1 gene DOID:4001 ovarian carcinoma severity ISO RGD:731648 D RGD:9068941 20200609 RGD mRNA:increased expression:female gonad (human) PMID:17409410|REF_RGD_ID:11561962 8699839 Six1 SIX homeobox 1 gene DOID:630 genetic disease ISO RGD:731648 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30311386|PMID:34906515 8699839 Six1 SIX homeobox 1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:731648 D RGD:9068941 20200609 RGD protein:increased expression:liver (human) PMID:17008870|REF_RGD_ID:11561961 8699839 Six1 SIX homeobox 1 gene DOID:9000096 Lung Agenesis ISO RGD:1550080 D RGD:9068941 20200609 RGD PMID:21385574|REF_RGD_ID:11561981 8699839 Six1 SIX homeobox 1 gene DOID:9000096 Lung Agenesis ISO RGD:620906 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:lung epithelium: PMID:24528972|REF_RGD_ID:8554873 8699839 Six1 SIX homeobox 1 gene DOID:9000096 Lung Agenesis ISO RGD:731648 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung (rat) PMID:24528972|REF_RGD_ID:8554873 8699839 Six1 SIX homeobox 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:731648 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:23435380|REF_RGD_ID:11561950 8699839 Six1 SIX homeobox 1 gene DOID:9001460 22q11 Deletion Syndrome ISO RGD:1550080 D RGD:9068941 20200609 RGD PMID:21364285|REF_RGD_ID:11561941 8699839 Six1 SIX homeobox 1 gene DOID:9001767 Unilateral Hearing Loss ISO RGD:731648 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Unilateral deafness 8699839 Six1 SIX homeobox 1 gene DOID:9002083 Branchiootic Syndrome 1 ISO RGD:731648 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Branchiootic syndrome 1 PMID:12843324|PMID:15141091|PMID:16652090|PMID:19497856|PMID:21254961|PMID:21280147|PMID:24033266|PMID:25741868|PMID:28492532|PMID:34440452 8699839 Six1 SIX homeobox 1 gene DOID:9004538 Hearing Loss ISO RGD:731648 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:25741868|PMID:28492532|PMID:30311386|PMID:34906515 8699839 Six1 SIX homeobox 1 gene DOID:9005835 Congenital Abnormalities ISO RGD:1550080 D RGD:9068941 20200609 RGD PMID:12834866|REF_RGD_ID:8554898 8699839 Six1 SIX homeobox 1 gene DOID:9005835 Congenital Abnormalities ISO RGD:731648 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12834866 8699839 Six1 SIX homeobox 1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:731648 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27259717 8699839 Six1 SIX homeobox 1 gene DOID:9007844 Branchiootic Syndrome 3 ISO RGD:731648 D RGD:7240710 20180130 OMIM 8699839 Six1 SIX homeobox 1 gene DOID:9007844 Branchiootic Syndrome 3 ISO RGD:731648 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: BO SYNDROME 3 | ClinVar Annotator: match by term: Branchiootic syndrome 3 | ClinVar Annotator: match by term: SIX1-related condition PMID:10777717|PMID:12843324|PMID:15141091|PMID:16652090|PMID:16971658|PMID:17637804|PMID:18330911|PMID:18666230|PMID:19497856|PMID:21254961|PMID:21280147|PMID:21700001|PMID:23435380|PMID:24033266|PMID:24164807|PMID:25326635|PMID:25414181|PMID:25741868|PMID:25788563|PMID:26467025|PMID:28492532|PMID:28566479|PMID:30311386|PMID:31980437|PMID:34440452|PMID:34906515|PMID:35802133|PMID:36633841|PMID:37479820 8699839 Six1 SIX homeobox 1 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:731648 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant 8699839 Six1 SIX homeobox 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:731648 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12834866 8699845 Prodh2 proline dehydrogenase 2 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1315565 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 8699845 Prodh2 proline dehydrogenase 2 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1315565 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 8699845 Prodh2 proline dehydrogenase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1315565 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8699863 Pla2g4f phospholipase A2 group IVF gene DOID:2717 Bloom syndrome ISO RGD:1606120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8699863 Pla2g4f phospholipase A2 group IVF gene DOID:9256 colorectal cancer ISO RGD:1606120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8699890 Ssu72 SSU72 homolog, RNA polymerase II CTD phosphatase gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1605688 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8699890 Ssu72 SSU72 homolog, RNA polymerase II CTD phosphatase gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1605688 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 8699890 Ssu72 SSU72 homolog, RNA polymerase II CTD phosphatase gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1605688 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:23892090|PMID:28492532|PMID:31602316 8699890 Ssu72 SSU72 homolog, RNA polymerase II CTD phosphatase gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1605688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 8699890 Ssu72 SSU72 homolog, RNA polymerase II CTD phosphatase gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1605688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 8699890 Ssu72 SSU72 homolog, RNA polymerase II CTD phosphatase gene DOID:0110994 Joubert syndrome 25 ISO RGD:1605688 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8699890 Ssu72 SSU72 homolog, RNA polymerase II CTD phosphatase gene DOID:0111934 immunodeficiency 38 ISO RGD:1605688 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8699890 Ssu72 SSU72 homolog, RNA polymerase II CTD phosphatase gene DOID:0111935 immunodeficiency 16 ISO RGD:1605688 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8699890 Ssu72 SSU72 homolog, RNA polymerase II CTD phosphatase gene DOID:409 liver disease ISO RGD:1552892 D RGD:9068941 20240530 MouseDO 8699890 Ssu72 SSU72 homolog, RNA polymerase II CTD phosphatase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8699890 Ssu72 SSU72 homolog, RNA polymerase II CTD phosphatase gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1605688 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:23892090|PMID:28492532|PMID:31602316 8699890 Ssu72 SSU72 homolog, RNA polymerase II CTD phosphatase gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1605688 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8699890 Ssu72 SSU72 homolog, RNA polymerase II CTD phosphatase gene DOID:9009315 Idiopathic Generalized Epilepsy ISO RGD:1605688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8699899 Acads acyl-CoA dehydrogenase short chain gene DOID:0080154 short chain acyl-CoA dehydrogenase deficiency ISO RGD:732202 D RGD:7240710 20180130 OMIM 8699899 Acads acyl-CoA dehydrogenase short chain gene DOID:0080154 short chain acyl-CoA dehydrogenase deficiency ISO RGD:732202 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: ACADS-related condition | ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase PMID:11134486|PMID:12736383|PMID:12872838|PMID:14506246|PMID:14568186|PMID:14595061|PMID:16199547|PMID:16546179|PMID:16906473|PMID:1692038|PMID:16926354|PMID:17576681|PMID:18054510|PMID:185223805|PMID:18523805|PMID:18676165|PMID:18836889|PMID:18951053|PMID:19800078|PMID:19952864|PMID:20376488|PMID:20389114|PMID:21170680|PMID:21325261|PMID:21483766|PMID:21500142|PMID:21938826|PMID:22241096|PMID:22424739|PMID:23155713|PMID:23798014|PMID:24033266|PMID:24485985|PMID:25741868|PMID:26055667|PMID:26274329|PMID:27051597|PMID:27466294|PMID:27938594|PMID:28018444|PMID:2808706|PMID:28263315|PMID:28374236|PMID:28454995|PMID:28492532|PMID:28516284|PMID:28532786|PMID:29519241|PMID:29678161|PMID:30035407|PMID:30612563|PMID:30626930|PMID:31813752|PMID:31847883|PMID:31980526|PMID:32447334|PMID:32710939|PMID:32778825|PMID:32793418|PMID:32802992|PMID:33391346|PMID:33895855|PMID:34394177|PMID:34426522|PMID:34869113|PMID:35095998|PMID:35193651|PMID:36207829|PMID:9499414|PMID:9536098|PMID:9582344 8699899 Acads acyl-CoA dehydrogenase short chain gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:732202 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:18523805|PMID:25741868|PMID:28492532 8699899 Acads acyl-CoA dehydrogenase short chain gene DOID:1574 alcohol use disorder susceptibility ISO RGD:732202 D RGD:9068941 20240229 RGD DNA:SNP:: (rs1799958) (human) PMID:20554694|REF_RGD_ID:401976551 8699899 Acads acyl-CoA dehydrogenase short chain gene DOID:6000 congestive heart failure ISO RGD:732202 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30827304 8699899 Acads acyl-CoA dehydrogenase short chain gene DOID:630 genetic disease ISO RGD:732202 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11134486|PMID:12736383|PMID:14506246|PMID:16546179|PMID:1692038|PMID:16926354|PMID:18054510|PMID:18523805|PMID:18676165|PMID:19800078|PMID:19952864|PMID:21170680|PMID:21483766|PMID:21938826|PMID:22241096|PMID:22424739|PMID:23798014|PMID:24033266|PMID:24485985|PMID:25741868|PMID:26055667|PMID:27051597|PMID:2808706|PMID:28454995|PMID:28492532|PMID:31813752|PMID:32793418|PMID:9499414|PMID:9582344 8699899 Acads acyl-CoA dehydrogenase short chain gene DOID:9352 type 2 diabetes mellitus ISO RGD:732202 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:18523805|PMID:25741868|PMID:28492532 8699912 Fads2 fatty acid desaturase 2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:68475 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8699912 Fads2 fatty acid desaturase 2 gene DOID:1059 intellectual disability ISO RGD:68475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8699912 Fads2 fatty acid desaturase 2 gene DOID:12930 dilated cardiomyopathy treatment ISO RGD:68475 D RGD:9068941 20231207 RGD PMID:24284026|REF_RGD_ID:401901245 8699912 Fads2 fatty acid desaturase 2 gene DOID:3312 bipolar disorder ISO RGD:68475 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 8699912 Fads2 fatty acid desaturase 2 gene DOID:5804 discrete subaortic stenosis treatment ISO RGD:68339 D RGD:9068941 20231207 RGD associated with Left Ventricular Hypertrophy, Cardiac Fibrosis PMID:24284026|REF_RGD_ID:401901245 8699912 Fads2 fatty acid desaturase 2 gene DOID:6000 congestive heart failure treatment ISO RGD:68339 D RGD:9068941 20231207 RGD associated with Left Ventricular Hypertrophy, Cardiac Fibrosis PMID:24284026|REF_RGD_ID:401901245 8699912 Fads2 fatty acid desaturase 2 gene DOID:6000 congestive heart failure treatment ISO RGD:68339 D RGD:9068941 20231214 RGD PMID:22796714|REF_RGD_ID:401901592 8699912 Fads2 fatty acid desaturase 2 gene DOID:9003139 Cardiac Fibrosis treatment ISO RGD:68339 D RGD:9068941 20231214 RGD PMID:22796714|PMID:24284026|REF_RGD_ID:401901245|REF_RGD_ID:401901592 8699912 Fads2 fatty acid desaturase 2 gene DOID:9003936 Cardiomegaly treatment ISO RGD:68339 D RGD:9068941 20231207 RGD PMID:24284026|REF_RGD_ID:401901245 8699912 Fads2 fatty acid desaturase 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:68475 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 8699912 Fads2 fatty acid desaturase 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:68475 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24836286 8699912 Fads2 fatty acid desaturase 2 gene DOID:9455 lipid storage disease ISO RGD:68475 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21123845 8699912 Fads2 fatty acid desaturase 2 gene DOID:9744 type 1 diabetes mellitus treatment ISO RGD:68339 D RGD:9068941 20231202 RGD associated with hypertension PMID:15589689|REF_RGD_ID:401901188 8699929 Utp25 UTP25 small subunit processome component gene DOID:10487 Hirschsprung's disease ISO RGD:1604367 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25007945 8699929 Utp25 UTP25 small subunit processome component gene DOID:1540 parathyroid carcinoma ISO RGD:1604367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8699929 Utp25 UTP25 small subunit processome component gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8699973 Adcy10 adenylate cyclase 10 gene DOID:0111942 immunodeficiency 25 ISO RGD:737484 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 25 PMID:28492532 8699973 Adcy10 adenylate cyclase 10 gene DOID:12336 male infertility ISO RGD:737484 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Male infertility 8699973 Adcy10 adenylate cyclase 10 gene DOID:1540 parathyroid carcinoma ISO RGD:737484 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8699973 Adcy10 adenylate cyclase 10 gene DOID:9003936 Cardiomegaly ameliorates ISO RGD:737485 D RGD:9068941 20230429 RGD PMID:29466442|REF_RGD_ID:329337358 8699973 Adcy10 adenylate cyclase 10 gene DOID:9005047 Hypercalciuria, Absorptive, 2 ISO RGD:737484 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: ADCY10-related condition | ClinVar Annotator: match by term: Familial idiopathic hypercalciuria PMID:11932268|PMID:17576681|PMID:25741868|PMID:26787776|PMID:28492532|PMID:9536098 8699973 Adcy10 adenylate cyclase 10 gene DOID:9005047 Hypercalciuria, Absorptive, 2 susceptibility ISO RGD:737484 D RGD:7240710 20190502 OMIM 8699973 Adcy10 adenylate cyclase 10 gene DOID:9008091 Optic Nerve Injuries ISO RGD:708450 D RGD:9068941 20230504 RGD protein:decreased expression:retina PMID:22649251|REF_RGD_ID:329347828 8699973 Adcy10 adenylate cyclase 10 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737484 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8700011 Dctn3 dynactin subunit 3 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ISO RGD:1319944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 8700011 Dctn3 dynactin subunit 3 gene DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2 ISO RGD:1319944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 8700011 Dctn3 dynactin subunit 3 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1319944 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 8700011 Dctn3 dynactin subunit 3 gene DOID:0080942 anauxetic dysplasia ISO RGD:1319944 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 8700011 Dctn3 dynactin subunit 3 gene DOID:0111065 autosomal recessive distal hereditary motor neuronopathy 2 ISO RGD:1319944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 8700011 Dctn3 dynactin subunit 3 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1319944 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 8700011 Dctn3 dynactin subunit 3 gene DOID:607 paraplegia ISO RGD:1319944 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:23332916|PMID:23332917|PMID:28492532 8700011 Dctn3 dynactin subunit 3 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1319944 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8700011 Dctn3 dynactin subunit 3 gene DOID:9870 galactosemia ISO RGD:1319944 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:10268 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:23861362|PMID:25447171|PMID:25661095|PMID:25741868|PMID:28492532 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:0050451 Brugada syndrome ISO RGD:10268 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Brugada syndrome (shorter-than-normal QT interval) | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:17224476|PMID:17576681|PMID:20817017|PMID:22385640|PMID:22581653|PMID:22840528|PMID:23414114|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24183960|PMID:25260352|PMID:25333069|PMID:25633834|PMID:25637381|PMID:25741868|PMID:27231019|PMID:27662471|PMID:28341588|PMID:28492532|PMID:28750076|PMID:30172029|PMID:30279520|PMID:30662450|PMID:31293105|PMID:31539150|PMID:31737537|PMID:32145446|PMID:34163037|PMID:34222376|PMID:36007726|PMID:9536098 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:0050700 cardiomyopathy ISO RGD:10268 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:23861362|PMID:25184293|PMID:25741868|PMID:26230511|PMID:26386135|PMID:27502440|PMID:28492532|PMID:29046645|PMID:30345660 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:0050741 alcohol dependence ISO RGD:2245 D RGD:9068941 20220609 RGD mRNA, protein:increased expression:amygdala, hippocampus (rat) PMID:27905406|REF_RGD_ID:152985537 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:0050741 alcohol dependence ISO RGD:2245 D RGD:9068941 20220609 RGD protein:increased expression:inferior colliculus (human) PMID:25556199|REF_RGD_ID:152985539 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:0050793 short QT syndrome ISO RGD:10268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short QT Syndrome 4 | ClinVar Annotator: match by term: Short QT syndrome PMID:20031608|PMID:20817017|PMID:22840528|PMID:23861362|PMID:25447171|PMID:25633834|PMID:25741868|PMID:28492532 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:0060041 autism spectrum disorder ISO RGD:10268 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:28492532 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:0060173 Timothy syndrome ISO RGD:10268 D RGD:7240710 20180130 OMIM 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:0060173 Timothy syndrome ISO RGD:10268 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: CACNA1C-related disorder | ClinVar Annotator: match by term: Timothy syndrome | ClinVar Annotator: match by term: Timothy syndrome type 1 PMID:10343407|PMID:12166659|PMID:15454078|PMID:15863612|PMID:16199547|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20543828|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22020278|PMID:22106044|PMID:22581653|PMID:22584458|PMID:22840528|PMID:22990809|PMID:23313911|PMID:23414114|PMID:23575362|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23678275|PMID:23690510|PMID:23861362|PMID:24033266|PMID:24183960|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24981977|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25500949|PMID:25633834|PMID:25661095|PMID:25691416|PMID:25741868|PMID:26159999|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26383259|PMID:26386135|PMID:26498160|PMID:26637798|PMID:26822303|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27593853|PMID:27662471|PMID:27711072|PMID:27868338|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28492532|PMID:28518168|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:29046645|PMID:29071820|PMID:29247119|PMID:29568937|PMID:29915097|PMID:30023270|PMID:30025578|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30471092|PMID:30513141|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31110529|PMID:31293105|PMID:31408100|PMID:31430211|PMID:31453089|PMID:31539150|PMID:31737537|PMID:32145446|PMID:32161207|PMID:32461654|PMID:32625235|PMID:33488405|PMID:34163037|PMID:34222376|PMID:36474027|PMID:9536098 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:0060173 Timothy syndrome ISO RGD:10268 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: CACNA1C-related disorder | ClinVar Annotator: match by term: Long QT syndrome with syndactyly | ClinVar Annotator: match by term: Timothy syndrome | ClinVar Annotator: match by term: Timothy syndrome type 1 PMID:10343407|PMID:12166659|PMID:15454078|PMID:15863612|PMID:16199547|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20543828|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22020278|PMID:22106044|PMID:22581653|PMID:22584458|PMID:22840528|PMID:22990809|PMID:23313911|PMID:23414114|PMID:23575362|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23678275|PMID:23690510|PMID:23861362|PMID:24033266|PMID:24183960|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24981977|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25500949|PMID:25633834|PMID:25637381|PMID:25661095|PMID:25691416|PMID:25741868|PMID:26159999|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26383259|PMID:26386135|PMID:26498160|PMID:26637798|PMID:26822303|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27593853|PMID:27662471|PMID:27711072|PMID:27868338|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28492532|PMID:28518168|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:29046645|PMID:29071820|PMID:29247119|PMID:29568937|PMID:29915097|PMID:30023270|PMID:30025578|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30471092|PMID:30513141|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31110529|PMID:31293105|PMID:31408100|PMID:31430211|PMID:31453089|PMID:31539150|PMID:31737537|PMID:32145446|PMID:32161207|PMID:32461654|PMID:32625235|PMID:33488405|PMID:34163037|PMID:34222376|PMID:34999275|PMID:36007726|PMID:36474027|PMID:37901857|PMID:9536098 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:0060173 Timothy syndrome ISO RGD:10268 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: CACNA1C-related disorder | ClinVar Annotator: match by term: Timothy syndrome | ClinVar Annotator: match by term: Timothy syndrome type 1 PMID:10343407|PMID:12166659|PMID:15454078|PMID:15863612|PMID:16199547|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20543828|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22020278|PMID:22106044|PMID:22581653|PMID:22584458|PMID:22840528|PMID:22990809|PMID:23313911|PMID:23414114|PMID:23575362|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23678275|PMID:23690510|PMID:23861362|PMID:24033266|PMID:24183960|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24981977|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25500949|PMID:25633834|PMID:25637381|PMID:25661095|PMID:25691416|PMID:25741868|PMID:26159999|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26386135|PMID:26498160|PMID:26637798|PMID:26822303|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27580036|PMID:27593853|PMID:27662471|PMID:27711072|PMID:27868338|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28492532|PMID:28518168|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:29046645|PMID:29071820|PMID:29247119|PMID:29568937|PMID:29915097|PMID:30023270|PMID:30025578|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30471092|PMID:30513141|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31293105|PMID:31408100|PMID:31430211|PMID:31453089|PMID:31539150|PMID:31737537|PMID:32145446|PMID:32161207|PMID:32233023|PMID:32461654|PMID:32625235|PMID:33488405|PMID:34163037|PMID:34222376|PMID:34495297|PMID:34999275|PMID:36007726|PMID:36474027|PMID:37227348|PMID:37901857|PMID:9536098 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:10268 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25260352|PMID:25633834|PMID:25741868|PMID:28492532|PMID:30847666 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:0070514 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies ISO RGD:10268 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies PMID:25741868 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:0070536 neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures ISO RGD:10268 D RGD:7240710 20221214 OMIM 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:0070536 neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures ISO RGD:10268 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures PMID:15454078|PMID:15863612|PMID:16360093|PMID:17224476|PMID:18250309|PMID:19074970|PMID:20817017|PMID:21307850|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22840528|PMID:23313911|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23678275|PMID:23690510|PMID:23861362|PMID:25260352|PMID:25633834|PMID:25741868|PMID:26227324|PMID:26822303|PMID:27593853|PMID:27662471|PMID:27868338|PMID:28211989|PMID:28371864|PMID:28492532|PMID:28750076|PMID:30513141|PMID:30847666|PMID:32233023|PMID:34163037|PMID:34999275|PMID:37901857 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:0110220 Brugada syndrome 3 ISO RGD:10268 D RGD:7240710 20180130 OMIM 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:0110220 Brugada syndrome 3 ISO RGD:10268 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Brugada syndrome 3 PMID:15454078|PMID:15863612|PMID:16199547|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21878566|PMID:21910241|PMID:22385640|PMID:22581653|PMID:22584458|PMID:22840528|PMID:23313911|PMID:23414114|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23678275|PMID:23690510|PMID:23861362|PMID:24033266|PMID:24183960|PMID:24728418|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25500949|PMID:25633834|PMID:25741868|PMID:26227324|PMID:26230511|PMID:26386135|PMID:26637798|PMID:26822303|PMID:27502440|PMID:27593853|PMID:27662471|PMID:27711072|PMID:27868338|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28211989|PMID:28371864|PMID:28492532|PMID:28518168|PMID:28600387|PMID:28704380|PMID:28750076|PMID:29046645|PMID:29568937|PMID:29915097|PMID:30279520|PMID:30345660|PMID:30471092|PMID:30662450|PMID:30847666|PMID:31539150|PMID:31737537|PMID:32145446|PMID:32233023|PMID:32461654|PMID:32625235|PMID:33488405|PMID:34222376|PMID:34495297|PMID:34999275|PMID:36474027|PMID:37901857|PMID:9536098 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:10268 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 PMID:25741868|PMID:26253506|PMID:27580036|PMID:28492532|PMID:30025578|PMID:30172029|PMID:30984024|PMID:31408100|PMID:32161207 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:0110644 long QT syndrome 1 ISO RGD:10268 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:15454078|PMID:15863612|PMID:16360093|PMID:17224476|PMID:18250309|PMID:19074970|PMID:20817017|PMID:21307850|PMID:21878566|PMID:21910241|PMID:22581653|PMID:23313911|PMID:23414114|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23678275|PMID:23690510|PMID:24033266|PMID:24183960|PMID:25333069|PMID:25741868|PMID:26227324|PMID:26822303|PMID:27593853|PMID:27868338|PMID:28211989|PMID:28371864|PMID:28492532|PMID:34222376 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:0110649 long QT syndrome 8 ISO RGD:10268 D RGD:7240710 20240228 OMIM 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:0110649 long QT syndrome 8 ISO RGD:10268 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Long qt syndrome 8 PMID:15454078|PMID:15863612|PMID:16199547|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22584458|PMID:22840528|PMID:23174487|PMID:23313911|PMID:23575362|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:23979604|PMID:24033266|PMID:24728418|PMID:24773605|PMID:25184293|PMID:25260352|PMID:25341504|PMID:25500949|PMID:25633834|PMID:25691416|PMID:25741868|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26386135|PMID:26637798|PMID:26822303|PMID:27502440|PMID:27580036|PMID:27593853|PMID:27662471|PMID:27711072|PMID:27868338|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28211989|PMID:28371864|PMID:28492532|PMID:28518168|PMID:28600387|PMID:28704380|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29568937|PMID:29754768|PMID:29915097|PMID:30025578|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30471092|PMID:30513141|PMID:30530868|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31376648|PMID:31408100|PMID:31430211|PMID:31729605|PMID:31737537|PMID:32145446|PMID:32161207|PMID:32233023|PMID:32461654|PMID:32625235|PMID:33488405|PMID:34163037|PMID:34495297|PMID:34999275|PMID:36007726|PMID:37901857|PMID:9536098 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:10485 esophageal atresia ISO RGD:10268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:1059 intellectual disability ISO RGD:10268 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual deficiency | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532|PMID:34163037 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:1059 intellectual disability ISO RGD:10268 D RGD:8554872 20250114 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:10652 Alzheimer's disease ISO RGD:1550302 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:23403102|REF_RGD_ID:13782264 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:10763 hypertension ISO RGD:10268 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22949532 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:10268 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Concentric hypertrophic cardiomyopathy | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:20817017|PMID:22840528|PMID:23861362|PMID:24439875|PMID:25260352|PMID:25637381|PMID:25741868|PMID:26230511|PMID:26498160|PMID:28492532 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:10268 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Concentric hypertrophic cardiomyopathy | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:20817017|PMID:22840528|PMID:23861362|PMID:24439875|PMID:25260352|PMID:25637381|PMID:25741868|PMID:26230511|PMID:26498160|PMID:28492532|PMID:32145446|PMID:33797204 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:12849 autistic disorder ISO RGD:10268 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15454078 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:12930 dilated cardiomyopathy ISO RGD:10268 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:1470 major depressive disorder ISO RGD:10268 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28696432 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:1826 epilepsy ISO RGD:10268 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:33818783|PMID:34163037 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:1969 cerebral palsy ISO RGD:10268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868|PMID:28492532 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:2030 anxiety disorder ISO RGD:10268 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28696432 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:2055 post-traumatic stress disorder ISO RGD:10268 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Post-traumatic stress disorder PMID:32332995 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:2843 long QT syndrome ISO RGD:10268 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:12166659|PMID:15454078|PMID:15863612|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19074970|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22584458|PMID:22840528|PMID:23174487|PMID:23414114|PMID:23575362|PMID:23631430|PMID:23677916|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24183960|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24981977|PMID:25184293|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25633834|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25661095|PMID:25691416|PMID:25741868|PMID:25974115|PMID:26159999|PMID:26173111|PMID:26230511|PMID:26253506|PMID:26386135|PMID:26498160|PMID:26743238|PMID:27005929|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27662471|PMID:27711072|PMID:27871843|PMID:27920829|PMID:27930701|PMID:28166811|PMID:28492532|PMID:28493952|PMID:28600387|PMID:28616568|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29568937|PMID:30025578|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30530868|PMID:30847666|PMID:31130284|PMID:31408100|PMID:31539150|PMID:31729605|PMID:31737537|PMID:32145446|PMID:32161207|PMID:32233023|PMID:33488405|PMID:9536098 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:2843 long QT syndrome ISO RGD:10268 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:12166659|PMID:15454078|PMID:15863612|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22584458|PMID:22840528|PMID:23174487|PMID:23313911|PMID:23414114|PMID:23575362|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24183960|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24981977|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:2547171|PMID:25500949|PMID:25633834|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25661095|PMID:25691416|PMID:25741868|PMID:25974115|PMID:26159999|PMID:26173111|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26383259|PMID:26386135|PMID:26498160|PMID:26743238|PMID:27005929|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27593853|PMID:27662471|PMID:27711072|PMID:27868338|PMID:27871843|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28166811|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28427417|PMID:28492532|PMID:28493952|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29396286|PMID:29568937|PMID:29915097|PMID:30025578|PMID:30027834|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30530868|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31110529|PMID:31130284|PMID:31293105|PMID:31408100|PMID:31430211|PMID:31539150|PMID:31729605|PMID:31737537|PMID:32145446|PMID:32161207|PMID:32233023|PMID:33488405|PMID:9536098 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:2843 long QT syndrome ISO RGD:10268 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:12166659|PMID:15454078|PMID:15863612|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22584458|PMID:22840528|PMID:23174487|PMID:23313911|PMID:23414114|PMID:23575362|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24183960|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24981977|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25500949|PMID:25633834|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25661095|PMID:25691416|PMID:25741868|PMID:25974115|PMID:26159999|PMID:26173111|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26383259|PMID:26386135|PMID:26498160|PMID:26743238|PMID:27005929|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27593853|PMID:27662471|PMID:27711072|PMID:27868338|PMID:27871843|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28166811|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28427417|PMID:28492532|PMID:28493952|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29396286|PMID:29568937|PMID:29754768|PMID:29915097|PMID:30025578|PMID:30027834|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30513141|PMID:30530868|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31110529|PMID:31130284|PMID:31293105|PMID:31408100|PMID:31430211|PMID:31539150|PMID:31729605|PMID:31737537|PMID:32145446|PMID:32161207|PMID:32233023|PMID:33488405|PMID:9536098 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:2843 long QT syndrome ISO RGD:10268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated | ClinVar Annotator: match by term: Prolonged QT interval PMID:12166659|PMID:15454078|PMID:15863612|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19061337|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22584458|PMID:22840528|PMID:23145875|PMID:23174487|PMID:23313911|PMID:23414114|PMID:23575362|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24183960|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24981977|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25500949|PMID:25633834|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25661095|PMID:25691416|PMID:25741868|PMID:25974115|PMID:26159999|PMID:26173111|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26383259|PMID:26386135|PMID:26498160|PMID:26637798|PMID:26743238|PMID:26822303|PMID:27005929|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27593853|PMID:27662471|PMID:27711072|PMID:27868338|PMID:27871843|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28166811|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28427417|PMID:28492532|PMID:28493952|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29247119|PMID:29396286|PMID:29568937|PMID:29754768|PMID:29915097|PMID:30025578|PMID:30027834|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30513141|PMID:30530868|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31110529|PMID:31130284|PMID:31293105|PMID:31408100|PMID:31430211|PMID:31539150|PMID:31729605|PMID:31737537|PMID:31805042|PMID:32041989|PMID:32145446|PMID:32161207|PMID:32233023|PMID:32368696|PMID:33191761|PMID:33203140|PMID:33488405|PMID:9536098 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:2843 long QT syndrome ISO RGD:10268 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:12166659|PMID:15454078|PMID:15863612|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19061337|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22584458|PMID:22840528|PMID:23145875|PMID:23174487|PMID:23313911|PMID:23414114|PMID:23575362|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24183960|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24981977|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25500949|PMID:25633834|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25661095|PMID:25691416|PMID:25741868|PMID:25974115|PMID:26159999|PMID:26173111|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26383259|PMID:26386135|PMID:26498160|PMID:26551885|PMID:26637798|PMID:26743238|PMID:26822303|PMID:27005929|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27593853|PMID:27662471|PMID:27711072|PMID:27854218|PMID:27868338|PMID:27871843|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28166811|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28427417|PMID:28492532|PMID:28493952|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29247119|PMID:29396286|PMID:29568937|PMID:29754768|PMID:29915097|PMID:30025578|PMID:30027834|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30513141|PMID:30530868|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31110529|PMID:31130284|PMID:31293105|PMID:31408100|PMID:31430211|PMID:31539150|PMID:31602316|PMID:31729605|PMID:31737537|PMID:31805042|PMID:32041989|PMID:32145446|PMID:32161207|PMID:32233023|PMID:32368696|PMID:33191761|PMID:33203140|PMID:33488405|PMID:9536098 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:2843 long QT syndrome ISO RGD:10268 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:12166659|PMID:15454078|PMID:15863612|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19061337|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22584458|PMID:22840528|PMID:23145875|PMID:23174487|PMID:23313911|PMID:23414114|PMID:23575362|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24183960|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24981977|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25500949|PMID:25633834|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25661095|PMID:25691416|PMID:25741868|PMID:25974115|PMID:26076356|PMID:26159999|PMID:26173111|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26383259|PMID:26386135|PMID:26498160|PMID:26551885|PMID:26637798|PMID:26743238|PMID:26822303|PMID:27005929|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27593853|PMID:27662471|PMID:27707468|PMID:27711072|PMID:27868338|PMID:27871843|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28166811|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28427417|PMID:28492532|PMID:28493952|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29247119|PMID:29396286|PMID:29568937|PMID:29754768|PMID:29915097|PMID:30025578|PMID:30027834|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30513141|PMID:30530868|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31110529|PMID:31130284|PMID:31293105|PMID:31408100|PMID:31430211|PMID:31539150|PMID:31602316|PMID:31729605|PMID:31737537|PMID:31805042|PMID:32041989|PMID:32145446|PMID:32161207|PMID:32233023|PMID:32368696|PMID:33191761|PMID:33203140|PMID:33488405|PMID:34163037|PMID:9536098 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:2843 long QT syndrome ISO RGD:10268 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:12166659|PMID:15454078|PMID:15863612|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19061337|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22584458|PMID:22840528|PMID:23145875|PMID:23174487|PMID:23313911|PMID:23414114|PMID:23575362|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24183960|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24981977|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25500949|PMID:25633834|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25661095|PMID:25691416|PMID:25741868|PMID:25974115|PMID:26076356|PMID:26159999|PMID:26173111|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26383259|PMID:26386135|PMID:26498160|PMID:26551885|PMID:26637798|PMID:26743238|PMID:26822303|PMID:27005929|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27593853|PMID:27662471|PMID:27707468|PMID:27711072|PMID:27868338|PMID:27871843|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28166811|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28427417|PMID:28492532|PMID:28493952|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29247119|PMID:29396286|PMID:29568937|PMID:29754768|PMID:29915097|PMID:30025578|PMID:30027834|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30513141|PMID:30530868|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31110529|PMID:31130284|PMID:31293105|PMID:31408100|PMID:31430211|PMID:31539150|PMID:31602316|PMID:31729605|PMID:31737537|PMID:31805042|PMID:32041989|PMID:32145446|PMID:32161207|PMID:32233023|PMID:32368696|PMID:33191761|PMID:33203140|PMID:33488405|PMID:34163037|PMID:34999275|PMID:9536098 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:2843 long QT syndrome ISO RGD:10268 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:12166659|PMID:15454078|PMID:15863612|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19061337|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22584458|PMID:22840528|PMID:23145875|PMID:23174487|PMID:23313911|PMID:23414114|PMID:23575362|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24183960|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24981977|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25500949|PMID:25633834|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25661095|PMID:25691416|PMID:25741868|PMID:25974115|PMID:26159999|PMID:26173111|PMID:26220970|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26383259|PMID:26386135|PMID:26498160|PMID:26551885|PMID:26637798|PMID:26743238|PMID:26822303|PMID:27005929|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27593853|PMID:27662471|PMID:27707468|PMID:27711072|PMID:27868338|PMID:27871843|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28166811|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28427417|PMID:28492532|PMID:28493952|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29247119|PMID:29396286|PMID:29568937|PMID:29754768|PMID:29915097|PMID:30025578|PMID:30027834|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30513141|PMID:30530868|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31110529|PMID:31130284|PMID:31293105|PMID:31408100|PMID:31430211|PMID:31539150|PMID:31602316|PMID:31729605|PMID:31737537|PMID:31805042|PMID:32041989|PMID:32145446|PMID:32161207|PMID:32233023|PMID:32368696|PMID:33191761|PMID:33203140|PMID:33488405|PMID:34163037|PMID:34999275|PMID:9536098 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:2843 long QT syndrome ISO RGD:10268 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:12166659|PMID:15454078|PMID:15863612|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19061337|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22584458|PMID:22840528|PMID:23145875|PMID:23174487|PMID:23313911|PMID:23414114|PMID:23575362|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24183960|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24981977|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25500949|PMID:25633834|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25661095|PMID:25691416|PMID:25741868|PMID:26159999|PMID:26173111|PMID:26220970|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26383259|PMID:26386135|PMID:26498160|PMID:26551885|PMID:26637798|PMID:26743238|PMID:26822303|PMID:27005929|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27593853|PMID:27662471|PMID:27707468|PMID:27711072|PMID:27868338|PMID:27871843|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28166811|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28427417|PMID:28492532|PMID:28493952|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29247119|PMID:29396286|PMID:29568937|PMID:29754768|PMID:29915097|PMID:30025578|PMID:30027834|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30513141|PMID:30530868|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31110529|PMID:31130284|PMID:31293105|PMID:31408100|PMID:31430211|PMID:31539150|PMID:31602316|PMID:31729605|PMID:31737537|PMID:31805042|PMID:32041989|PMID:32145446|PMID:32161207|PMID:32233023|PMID:32368696|PMID:33191761|PMID:33203140|PMID:33488405|PMID:34163037|PMID:34222376|PMID:34999275|PMID:9536098 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:2843 long QT syndrome ISO RGD:10268 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:12166659|PMID:15454078|PMID:15863612|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19061337|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22584458|PMID:22840528|PMID:23145875|PMID:23174487|PMID:23313911|PMID:23414114|PMID:23575362|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24183960|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24981977|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25500949|PMID:25633834|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25661095|PMID:25691416|PMID:25741868|PMID:26159999|PMID:26173111|PMID:26220970|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26383259|PMID:26386135|PMID:26498160|PMID:26551885|PMID:26637798|PMID:26743238|PMID:26822303|PMID:27005929|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27593853|PMID:27662471|PMID:27707468|PMID:27711072|PMID:27854218|PMID:27868338|PMID:27871843|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28166811|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28427417|PMID:28492532|PMID:28493952|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29247119|PMID:29396286|PMID:29568937|PMID:29754768|PMID:29915097|PMID:30025578|PMID:30027834|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30513141|PMID:30530868|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31110529|PMID:31130284|PMID:31293105|PMID:31408100|PMID:31430211|PMID:31539150|PMID:31602316|PMID:31729605|PMID:31737537|PMID:31805042|PMID:32041989|PMID:32145446|PMID:32161207|PMID:32233023|PMID:32368696|PMID:33191761|PMID:33203140|PMID:33488405|PMID:34163037|PMID:34222376|PMID:34999275|PMID:9536098 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:2843 long QT syndrome ISO RGD:10268 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated PMID:12166659|PMID:15454078|PMID:15863612|PMID:16199547|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19061337|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22584458|PMID:22840528|PMID:22990809|PMID:23145875|PMID:23174487|PMID:23313911|PMID:23414114|PMID:23575362|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24183960|PMID:24321233|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24981977|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25500949|PMID:25633834|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25661095|PMID:25691416|PMID:25741868|PMID:26159999|PMID:26173111|PMID:26220970|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26383259|PMID:26386135|PMID:26498160|PMID:26551885|PMID:26637798|PMID:26743238|PMID:26822303|PMID:27005929|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27593853|PMID:27662471|PMID:27707468|PMID:27711072|PMID:27868338|PMID:27871843|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28166811|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28427417|PMID:28492532|PMID:28493952|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29247119|PMID:29396286|PMID:29568937|PMID:29754768|PMID:29915097|PMID:30025578|PMID:30027834|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30513141|PMID:30530868|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31110529|PMID:31130284|PMID:31293105|PMID:31408100|PMID:31430211|PMID:31539150|PMID:31602316|PMID:31729605|PMID:31737537|PMID:31805042|PMID:32041989|PMID:32145446|PMID:32161207|PMID:32233023|PMID:32368696|PMID:33191761|PMID:33203140|PMID:33488405|PMID:34079577|PMID:34163037|PMID:34222376|PMID:34999275|PMID:36436328|PMID:9536098 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:2843 long QT syndrome ISO RGD:10268 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:12166659|PMID:15454078|PMID:15863612|PMID:16199547|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19061337|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22584458|PMID:22840528|PMID:22990809|PMID:23145875|PMID:23174487|PMID:23313911|PMID:23414114|PMID:23575362|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:23979604|PMID:24033266|PMID:24055113|PMID:24183960|PMID:24321233|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24773605|PMID:24981977|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25500949|PMID:25633834|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25661095|PMID:25691416|PMID:25741868|PMID:26159999|PMID:26173111|PMID:26220970|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26383259|PMID:26386135|PMID:26498160|PMID:26551885|PMID:26637798|PMID:26743238|PMID:26822303|PMID:27005929|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27593853|PMID:27662471|PMID:27707468|PMID:27711072|PMID:27868338|PMID:27871843|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28427417|PMID:28492532|PMID:28493952|PMID:28518168|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29247119|PMID:29396286|PMID:29396561|PMID:29568937|PMID:29754768|PMID:29915097|PMID:30025578|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30504930|PMID:30513141|PMID:30530868|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31110529|PMID:31130284|PMID:31293105|PMID:31376648|PMID:31408100|PMID:31430211|PMID:31453089|PMID:31539150|PMID:31602316|PMID:31729605|PMID:31737537|PMID:32145446|PMID:32161207|PMID:32233023|PMID:32368696|PMID:32461654|PMID:33191761|PMID:33203140|PMID:33488405|PMID:34079577|PMID:34163037|PMID:34222376|PMID:34999275|PMID:35205252|PMID:36436328|PMID:9536098 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:2843 long QT syndrome ISO RGD:10268 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated PMID:12166659|PMID:15454078|PMID:15863612|PMID:16199547|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19061337|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22584458|PMID:22840528|PMID:22990809|PMID:23145875|PMID:23174487|PMID:23313911|PMID:23414114|PMID:23575362|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:23979604|PMID:24033266|PMID:24055113|PMID:24183960|PMID:24321233|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24773605|PMID:24981977|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25500949|PMID:25633834|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25661095|PMID:25691416|PMID:25741868|PMID:26159999|PMID:26173111|PMID:26220970|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26383259|PMID:26386135|PMID:26498160|PMID:26551885|PMID:26637798|PMID:26743238|PMID:26822303|PMID:27005929|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27593853|PMID:27662471|PMID:27707468|PMID:27711072|PMID:27868338|PMID:27871843|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28427417|PMID:28492532|PMID:28493952|PMID:28518168|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29247119|PMID:29396286|PMID:29396561|PMID:29568937|PMID:29754768|PMID:29915097|PMID:30025578|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30504930|PMID:30513141|PMID:30530868|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31110529|PMID:31130284|PMID:31293105|PMID:31376648|PMID:31408100|PMID:31430211|PMID:31453089|PMID:31539150|PMID:31729605|PMID:31737537|PMID:32145446|PMID:32161207|PMID:32233023|PMID:32368696|PMID:32461654|PMID:33191761|PMID:33203140|PMID:33488405|PMID:34079577|PMID:34163037|PMID:34222376|PMID:34999275|PMID:35205252|PMID:36436328|PMID:9536098 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:2843 long QT syndrome ISO RGD:10268 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated | ClinVar Annotator: match by term: Prolonged QT interval PMID:12166659|PMID:15454078|PMID:15863612|PMID:16199547|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19061337|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22584458|PMID:22840528|PMID:22990809|PMID:23145875|PMID:23174487|PMID:23313911|PMID:23414114|PMID:23575362|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:23979604|PMID:24033266|PMID:24055113|PMID:24183960|PMID:24321233|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24773605|PMID:24981977|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25500949|PMID:25633834|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25661095|PMID:25691416|PMID:25741868|PMID:26159999|PMID:26173111|PMID:26220970|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26383259|PMID:26386135|PMID:26498160|PMID:26551885|PMID:26637798|PMID:26743238|PMID:26822303|PMID:27005929|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27593853|PMID:27662471|PMID:27707468|PMID:27711072|PMID:27868338|PMID:27871843|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28492532|PMID:28493952|PMID:28518168|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29247119|PMID:29396286|PMID:29396561|PMID:29568937|PMID:29754768|PMID:29915097|PMID:30025578|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30504930|PMID:30513141|PMID:30530868|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31110529|PMID:31130284|PMID:31293105|PMID:31376648|PMID:31408100|PMID:31430211|PMID:31453089|PMID:31539150|PMID:31729605|PMID:31737537|PMID:32145446|PMID:32161207|PMID:32233023|PMID:32368696|PMID:32461654|PMID:32625235|PMID:33191761|PMID:33203140|PMID:33488405|PMID:34079577|PMID:34163037|PMID:34222376|PMID:34999275|PMID:35205252|PMID:36436328|PMID:9536098 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:2843 long QT syndrome ISO RGD:10268 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:12166659|PMID:15454078|PMID:15863612|PMID:16199547|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19061337|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22584458|PMID:22840528|PMID:22990809|PMID:23145875|PMID:23174487|PMID:23313911|PMID:23414114|PMID:23575362|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:23979604|PMID:24033266|PMID:24055113|PMID:24183960|PMID:24321233|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24773605|PMID:24981977|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25500949|PMID:25633834|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25661095|PMID:25691416|PMID:25741868|PMID:26159999|PMID:26173111|PMID:26220970|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26383259|PMID:26386135|PMID:26498160|PMID:26551885|PMID:26637798|PMID:26743238|PMID:26822303|PMID:27005929|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27593853|PMID:27662471|PMID:27707468|PMID:27711072|PMID:27868338|PMID:27871843|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28492532|PMID:28493952|PMID:28518168|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29247119|PMID:29396286|PMID:29396561|PMID:29568937|PMID:29754768|PMID:29915097|PMID:30025578|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30471092|PMID:30504930|PMID:30513141|PMID:30530868|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31110529|PMID:31130284|PMID:31293105|PMID:31376648|PMID:31408100|PMID:31430211|PMID:31453089|PMID:31539150|PMID:31729605|PMID:31737537|PMID:32145446|PMID:32161207|PMID:32233023|PMID:32368696|PMID:32461654|PMID:32625235|PMID:33191761|PMID:33203140|PMID:33488405|PMID:34079577|PMID:34163037|PMID:34222376|PMID:34999275|PMID:35205252|PMID:36436328|PMID:9536098 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:2843 long QT syndrome ISO RGD:10268 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated PMID:12166659|PMID:15454078|PMID:15863612|PMID:16199547|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19061337|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22584458|PMID:22840528|PMID:22990809|PMID:23145875|PMID:23174487|PMID:23313911|PMID:23414114|PMID:23575362|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:23979604|PMID:24033266|PMID:24055113|PMID:24183960|PMID:24321233|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24773605|PMID:24981977|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25500949|PMID:25633834|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25661095|PMID:25691416|PMID:25741868|PMID:26159999|PMID:26173111|PMID:26220970|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26386135|PMID:26498160|PMID:26551885|PMID:26637798|PMID:26743238|PMID:26822303|PMID:27005929|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27580036|PMID:27593853|PMID:27662471|PMID:27707468|PMID:27711072|PMID:27868338|PMID:27871843|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28492532|PMID:28493952|PMID:28518168|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29247119|PMID:29396286|PMID:29396561|PMID:29568937|PMID:29754768|PMID:29915097|PMID:30025578|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30471092|PMID:30504930|PMID:30513141|PMID:30530868|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31130284|PMID:31293105|PMID:31335548|PMID:31376648|PMID:31408100|PMID:31430211|PMID:31453089|PMID:31539150|PMID:31729605|PMID:31737537|PMID:32145446|PMID:32161207|PMID:32233023|PMID:32368696|PMID:32461654|PMID:32625235|PMID:33191761|PMID:33203140|PMID:33488405|PMID:34079577|PMID:34163037|PMID:34222376|PMID:34999275|PMID:35205252|PMID:36007726|PMID:36436328|PMID:37901857|PMID:38849547|PMID:9536098 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:2843 long QT syndrome ISO RGD:10268 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:12166659|PMID:15454078|PMID:15863612|PMID:16199547|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19061337|PMID:19074970|PMID:19225208|PMID:19687230|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22584458|PMID:22677788|PMID:22840528|PMID:22990809|PMID:23145875|PMID:23174487|PMID:23313911|PMID:23414114|PMID:23575362|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:23979604|PMID:24033266|PMID:24055113|PMID:24183960|PMID:24321233|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24773605|PMID:24981977|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25500949|PMID:25633834|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25661095|PMID:25691416|PMID:25741868|PMID:26159999|PMID:26173111|PMID:26220970|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26386135|PMID:26498160|PMID:26551885|PMID:26637798|PMID:26743238|PMID:26822303|PMID:27005929|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27580036|PMID:27593853|PMID:27662471|PMID:27707468|PMID:27711072|PMID:27868338|PMID:27871843|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28492532|PMID:28493952|PMID:28518168|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29247119|PMID:29396286|PMID:29396561|PMID:29568937|PMID:29754768|PMID:29915097|PMID:30025578|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30471092|PMID:30504930|PMID:30513141|PMID:30530868|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31130284|PMID:31293105|PMID:31335548|PMID:31376648|PMID:31408100|PMID:31430211|PMID:31453089|PMID:31539150|PMID:31729605|PMID:31737537|PMID:32145446|PMID:32161207|PMID:32233023|PMID:32368696|PMID:32461654|PMID:32625235|PMID:33191761|PMID:33203140|PMID:33488405|PMID:34079577|PMID:34163037|PMID:34222376|PMID:34495297|PMID:34999275|PMID:35205252|PMID:36007726|PMID:36436328|PMID:37227348|PMID:37901857|PMID:38849547|PMID:9536098 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:3007 breast ductal carcinoma ISO RGD:10268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma PMID:28492532 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:3008 invasive ductal carcinoma ISO RGD:10268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast cancer, invasive ductal PMID:28492532 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:3312 bipolar disorder ISO RGD:10268 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18711365|PMID:21926972|PMID:21926974|PMID:31043756 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:10268 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:25633834|PMID:25741868|PMID:28492532|PMID:28600387|PMID:28616568|PMID:29071820|PMID:31408100|PMID:32233023 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:397 restrictive cardiomyopathy ISO RGD:10268 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Restrictive cardiomyopathy PMID:20817017|PMID:22840528|PMID:23861362|PMID:25633834|PMID:25741868|PMID:27662471|PMID:28492532|PMID:28750076 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:5419 schizophrenia ISO RGD:10268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:6000 congestive heart failure ISO RGD:10268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congestive heart failure PMID:25741868|PMID:28492532 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:6088 acute stress disorder ISO RGD:10268 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28696432 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:612 primary immunodeficiency disease ISO RGD:10268 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15454078 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:630 genetic disease ISO RGD:10268 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25260352|PMID:25633834|PMID:28492532 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:9000064 Cardiac Arrhythmias ISO RGD:10268 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:24690944|PMID:25741868|PMID:26253506|PMID:27218670|PMID:27580036|PMID:28492532|PMID:30025578|PMID:30172029|PMID:30847666|PMID:30984024|PMID:31408100|PMID:31453089|PMID:32161207 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:10268 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28696432 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:9000495 Tremor ISO RGD:10268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intention tremor 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:9001366 Psychomotor Agitation ISO RGD:10268 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28696432 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:9002231 Fetal Growth Retardation ISO RGD:2245 D RGD:9068941 20220609 RGD protein:decreased expression:pancreas (rat) PMID:20873977|REF_RGD_ID:152985538 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:9002775 Cognitive Dysfunction ISO RGD:10268 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28696432 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:10268 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:17224476|PMID:17576681|PMID:20817017|PMID:22581653|PMID:22840528|PMID:23414114|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24183960|PMID:25333069|PMID:25633834|PMID:25637381|PMID:25741868|PMID:27231019|PMID:27662471|PMID:28341588|PMID:28492532|PMID:28750076|PMID:30279520|PMID:31293105|PMID:31539150|PMID:31737537|PMID:32145446|PMID:34222376|PMID:9536098 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:9003163 Heart Block ISO RGD:10268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart PMID:25741868 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:10268 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25260352|PMID:25741868|PMID:34163037 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:9004730 Romano-Ward Syndrome ISO RGD:10268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:15454078|PMID:15863612|PMID:16360093|PMID:17224476|PMID:18250309|PMID:19074970|PMID:21307850|PMID:21878566|PMID:21910241|PMID:22581653|PMID:23313911|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23678275|PMID:23690510|PMID:25741868|PMID:26227324|PMID:26822303|PMID:27593853|PMID:27868338|PMID:28211989|PMID:28371864|PMID:28492532 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:9005077 Joint Instability ISO RGD:10268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joint laxity 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:9005141 Ventricular Tachycardia ISO RGD:10268 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:25260352|PMID:25741868|PMID:28492532|PMID:28704380|PMID:29396561|PMID:31737537 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:9005466 Language Development Disorders ISO RGD:10268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Expressive language delay 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:9006294 Congenital Limb Deformities ISO RGD:10268 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15454078 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:9007215 Familial Ventricular Tachycardia ISO RGD:10268 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial polymorphic ventricular tachycardia PMID:25260352|PMID:25633834|PMID:25741868|PMID:28492532|PMID:30847666 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:9007820 Sudden Death ISO RGD:10268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden unexplained death PMID:25741868|PMID:28492532 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:9007925 Sudden Cardiac Death ISO RGD:10268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sudden cardiac death PMID:25741868|PMID:28492532 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:10268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:9008112 Ventricular Fibrillation, Paroxysmal Familial, 1 ISO RGD:10268 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation, paroxysmal familial, type 1 PMID:15863612|PMID:21685391|PMID:23979604|PMID:24773605|PMID:25691416|PMID:25741868|PMID:26822303|PMID:28492532 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:9120 amyloidosis ISO RGD:10268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyloidosis PMID:25741868|PMID:28492532 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:9993 hypoglycemia ISO RGD:10268 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15454078 8700157 Brdt bromodomain testis associated gene DOID:0070163 spermatogenic failure 21 ISO RGD:1315431 D RGD:7240710 20190315 OMIM 8700157 Brdt bromodomain testis associated gene DOID:0070163 spermatogenic failure 21 ISO RGD:1315431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 21 PMID:28199965 8700157 Brdt bromodomain testis associated gene DOID:0112131 severe congenital neutropenia 2 ISO RGD:1315431 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant PMID:28492532 8700157 Brdt bromodomain testis associated gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1315431 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:28492532 8700157 Brdt bromodomain testis associated gene DOID:14227 azoospermia ISO RGD:1315431 D RGD:9068941 20200609 RGD protein:decreased expression:testis: PMID:22035730|REF_RGD_ID:9586359 8700157 Brdt bromodomain testis associated gene DOID:14227 azoospermia susceptibility ISO RGD:1315431 D RGD:9068941 20200609 RGD DNA:SNP: :rs3088232(human) PMID:22016351|REF_RGD_ID:9586360 8700157 Brdt bromodomain testis associated gene DOID:14228 oligospermia susceptibility ISO RGD:1315431 D RGD:9068941 20200609 RGD DNA:SNP: :rs3088232(human) PMID:22016351|REF_RGD_ID:9586360 8700157 Brdt bromodomain testis associated gene DOID:5426 primary ovarian insufficiency ISO RGD:1315431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 8700190 Opn1sw opsin 1, short wave sensitive gene DOID:0060224 atrial fibrillation ISO RGD:736424 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 8700190 Opn1sw opsin 1, short wave sensitive gene DOID:0110304 autosomal dominant limb-girdle muscular dystrophy type 2 ISO RGD:736424 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1F PMID:28492532 8700190 Opn1sw opsin 1, short wave sensitive gene DOID:11661 blue color blindness ISO RGD:736424 D RGD:7240710 20180130 OMIM 8700190 Opn1sw opsin 1, short wave sensitive gene DOID:11661 blue color blindness ISO RGD:736424 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Blue color blindness | ClinVar Annotator: match by term: OPN1SW-related condition PMID:1386496|PMID:1531728|PMID:25741868|PMID:28492532|PMID:2937147|PMID:31816670 8700190 Opn1sw opsin 1, short wave sensitive gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8700199 Clta clathrin light chain A gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ISO RGD:733774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 8700199 Clta clathrin light chain A gene DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2 ISO RGD:733774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 8700199 Clta clathrin light chain A gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:733774 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 8700199 Clta clathrin light chain A gene DOID:0080600 COVID-19 ISO RGD:733774 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8700199 Clta clathrin light chain A gene DOID:0080942 anauxetic dysplasia ISO RGD:733774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 8700199 Clta clathrin light chain A gene DOID:0111065 autosomal recessive distal hereditary motor neuronopathy 2 ISO RGD:733774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 8700199 Clta clathrin light chain A gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:733774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 8700199 Clta clathrin light chain A gene DOID:607 paraplegia ISO RGD:733774 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:23332916|PMID:23332917|PMID:28492532 8700199 Clta clathrin light chain A gene DOID:9562 primary ciliary dyskinesia ISO RGD:733774 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8700199 Clta clathrin light chain A gene DOID:9870 galactosemia ISO RGD:733774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 8700207 Dync2i2 dynein 2 intermediate chain 2 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1342520 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:19610081|PMID:24183451|PMID:25741868|PMID:28492532|PMID:29068549|PMID:29241935|PMID:32576942|PMID:36268591|PMID:36653407 8700207 Dync2i2 dynein 2 intermediate chain 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1342520 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24183449|PMID:24183451|PMID:28492532 8700207 Dync2i2 dynein 2 intermediate chain 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1342520 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:22722545|PMID:24183449|PMID:24183451|PMID:28379358|PMID:28492532|PMID:31332438|PMID:33206935|PMID:33578420 8700207 Dync2i2 dynein 2 intermediate chain 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1342520 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8700207 Dync2i2 dynein 2 intermediate chain 2 gene DOID:0110087 asphyxiating thoracic dystrophy 3 ISO RGD:1342520 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 PMID:29068549 8700207 Dync2i2 dynein 2 intermediate chain 2 gene DOID:0110095 short-rib thoracic dysplasia 11 with or without polydactyly ISO RGD:1342520 D RGD:7240710 20180130 OMIM 8700207 Dync2i2 dynein 2 intermediate chain 2 gene DOID:0110095 short-rib thoracic dysplasia 11 with or without polydactyly ISO RGD:1342520 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: DYNC2I2-related condition | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 11 with or without polydactyly PMID:16199547|PMID:17576681|PMID:19610081|PMID:24183449|PMID:24183451|PMID:25741868|PMID:28379358|PMID:28492532|PMID:29068549|PMID:29241935|PMID:32576942|PMID:33578420|PMID:36268591|PMID:36653407|PMID:9536098 8700207 Dync2i2 dynein 2 intermediate chain 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1342520 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:22722545|PMID:24183449|PMID:24183451|PMID:28379358|PMID:28492532|PMID:31332438|PMID:33206935|PMID:33578420 8700207 Dync2i2 dynein 2 intermediate chain 2 gene DOID:543 dystonia ISO RGD:1342520 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:28492532 8700207 Dync2i2 dynein 2 intermediate chain 2 gene DOID:630 genetic disease ISO RGD:1342520 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8700207 Dync2i2 dynein 2 intermediate chain 2 gene DOID:8501 fundus dystrophy ISO RGD:1342520 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532 8700225 Col22a1 collagen type XXII alpha 1 chain gene DOID:10941 intracranial aneurysm susceptibility ISO RGD:1319222 D RGD:9068941 20200609 RGD DNA:SNPs:cds:multiple(human) PMID:30541770|REF_RGD_ID:13831344 8700225 Col22a1 collagen type XXII alpha 1 chain gene DOID:5409 lung small cell carcinoma ISO RGD:1319222 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22941189 8700292 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:735373 D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:18356561|PMID:19555857|PMID:20002458|PMID:20534176|PMID:21737554|PMID:25741868|PMID:26387786|PMID:28492532|PMID:32368696|PMID:36675162 8700292 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:735373 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 8700292 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:0081268 pulmonary venoocclusive disease 1 ISO RGD:735373 D RGD:7240710 20180718 OMIM 8700292 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:0081268 pulmonary venoocclusive disease 1 ISO RGD:735373 D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Pulmonary venoocclusive disease 1 PMID:10903931|PMID:11115378|PMID:12045205|PMID:12446270|PMID:15591269|PMID:15965979|PMID:16429395|PMID:16429403|PMID:18626305|PMID:19555857|PMID:20096498|PMID:20534176|PMID:21737554|PMID:21801371|PMID:23298310|PMID:24292273|PMID:25741868|PMID:26387786|PMID:28388887|PMID:28492532|PMID:28507310|PMID:31727138|PMID:31797984|PMID:32581362|PMID:3291115|PMID:34400635 8700292 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:0081269 pulmonary venoocclusive disease 2 ISO RGD:735373 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis PMID:18626305|PMID:24292273 8700292 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:735373 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 8700292 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:11613 hyperandrogenism ISO RGD:735373 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22825968 8700292 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:13374 fibrodysplasia ossificans progressiva ISO RGD:735373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive myositis ossificans 8700292 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:14557 primary pulmonary hypertension ISO RGD:735373 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Idiopathic and/or familial pulmonary arterial hypertension | ClinVar Annotator: match by term: Primary pulmonary hypertension | ClinVar Annotator: match by term: Pulmonary hypertension, primary, dexfenfluramine-associated | ClinVar Annotator: match by term: Pulmonary hypertension, primary, fenfluramine-associated PMID:10903931|PMID:10973254|PMID:11015450|PMID:11115378|PMID:11502704|PMID:11536076|PMID:12045205|PMID:12139571|PMID:12358323|PMID:12417513|PMID:12821254|PMID:14985116|PMID:15059534|PMID:15146475|PMID:15358693|PMID:15591269|PMID:15687131|PMID:15775752|PMID:15965979|PMID:16199547|PMID:16429395|PMID:16429403|PMID:16717148|PMID:16728714|PMID:17515463|PMID:17576681|PMID:18159113|PMID:18321866|PMID:18356561|PMID:18364108|PMID:18503968|PMID:19206171|PMID:19223935|PMID:19324947|PMID:19555857|PMID:19844076|PMID:20002458|PMID:20096498|PMID:20534176|PMID:21070126|PMID:21228398|PMID:21737554|PMID:21801371|PMID:21920918|PMID:22632830|PMID:22995991|PMID:23298310|PMID:23579436|PMID:23592887|PMID:23675998|PMID:24033266|PMID:24583436|PMID:24591673|PMID:24853021|PMID:24936649|PMID:25187962|PMID:25429696|PMID:25612240|PMID:25640679|PMID:25688877|PMID:25741868|PMID:25917481|PMID:26387786|PMID:26645265|PMID:26699722|PMID:26820968|PMID:27002414|PMID:27453251|PMID:27613157|PMID:27630060|PMID:27811071|PMID:27816994|PMID:27884767|PMID:28388887|PMID:28480048|PMID:28492532|PMID:28507310|PMID:29631995|PMID:29650961|PMID:29718794|PMID:29743074|PMID:29843651|PMID:30029678|PMID:30084161|PMID:30578397|PMID:30679663|PMID:30809644|PMID:30957726|PMID:31727138|PMID:31797984|PMID:32368696|PMID:32581362|PMID:3291115|PMID:33066286|PMID:33380512|PMID:34400635|PMID:34589526|PMID:34697415|PMID:34966542|PMID:35346192|PMID:36675162|PMID:9536098 8700292 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:1681 heart septal defect ISO RGD:735373 D RGD:9068941 20200609 RGD PMID:21070126|REF_RGD_ID:5129230 8700292 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:1826 epilepsy ISO RGD:735373 D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Seizure PMID:12358323|PMID:18321866|PMID:25741868|PMID:28492532 8700292 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:2841 asthma ISO RGD:735373 D RGD:9068941 20200609 RGD protein:decreased expression:bronchus PMID:18292470|REF_RGD_ID:5129470 8700292 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:341 peripheral vascular disease ISO RGD:735374 D RGD:9068941 20200609 RGD PMID:18723761|REF_RGD_ID:5129473 8700292 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:5453 pulmonary venoocclusive disease ISO RGD:735373 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8700292 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:735373 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:18356561|PMID:19555857|PMID:20002458|PMID:20534176|PMID:21737554|PMID:25741868|PMID:26387786|PMID:28492532 8700292 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:735373 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:18356561|PMID:19555857|PMID:20002458|PMID:20534176|PMID:21737554|PMID:25741868|PMID:26387786|PMID:28492532|PMID:32368696 8700292 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:735373 D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:18356561|PMID:19555857|PMID:20002458|PMID:20534176|PMID:21737554|PMID:25741868|PMID:26387786|PMID:28492532|PMID:32368696|PMID:36675162 8700292 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:630 genetic disease ISO RGD:735373 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15146475|PMID:20002458|PMID:24033266|PMID:24936649|PMID:25741868|PMID:27630060|PMID:28391780|PMID:28492532|PMID:28507310 8700292 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:6432 pulmonary hypertension ISO RGD:735373 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Pulmonary hypertension PMID:25741868 8700292 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:6432 pulmonary hypertension disease_progression ISO RGD:735373 D RGD:9068941 20200609 RGD DNA:missense mutations (human) PMID:19785764|REF_RGD_ID:5129239 8700292 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:6432 pulmonary hypertension treatment ISO RGD:735373 D RGD:9068941 20201001 RGD PMID:21737550|REF_RGD_ID:38500243 8700292 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:9000998 Brain Injuries ISO RGD:71082 D RGD:9068941 20200609 RGD mRNA:increased expression:dentate gyrus, neuron PMID:9080432|REF_RGD_ID:5129488 8700292 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:735373 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease PMID:10903931|PMID:10973254|PMID:11015450|PMID:11115378|PMID:11502704|PMID:11536076|PMID:12045205|PMID:12358323|PMID:12417513|PMID:12821254|PMID:14985116|PMID:15059534|PMID:15146475|PMID:15358693|PMID:15591269|PMID:15687131|PMID:15965979|PMID:16199547|PMID:16429395|PMID:16717148|PMID:16728714|PMID:17515463|PMID:17576681|PMID:18159113|PMID:18321866|PMID:18356561|PMID:18364108|PMID:18503968|PMID:19223935|PMID:19324947|PMID:19555857|PMID:20002458|PMID:20095988|PMID:20096498|PMID:20496075|PMID:20534176|PMID:21070126|PMID:21737554|PMID:21801371|PMID:22632830|PMID:23298310|PMID:23579436|PMID:23592887|PMID:23675998|PMID:24033266|PMID:24583436|PMID:24591673|PMID:24936649|PMID:25187962|PMID:25429696|PMID:25612240|PMID:25688877|PMID:25741868|PMID:25917481|PMID:26387786|PMID:26645265|PMID:27002414|PMID:27811071|PMID:27816994|PMID:27884767|PMID:28388887|PMID:28480048|PMID:28492532|PMID:29631995|PMID:29650961|PMID:29718794|PMID:29743074|PMID:29843651|PMID:30029678|PMID:30084161|PMID:30578397|PMID:30809644|PMID:31727138|PMID:31797984|PMID:32581362|PMID:3291115|PMID:33380512|PMID:34400635|PMID:34589526|PMID:36675162|PMID:9536098|PMID:9886286 8700292 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:9001820 Pulmonary Arterial Hypertension treatment ISO RGD:735374 D RGD:9068941 20230608 RGD PMID:23867624|REF_RGD_ID:329848996 8700292 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:9004009 Reperfusion Injury ISO RGD:71082 D RGD:9068941 20200609 RGD mRNA:increased expression:dentate gyrus, granule cell PMID:10996456|REF_RGD_ID:5129486 8700292 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8700292 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:9004771 Vascular Remodeling ISO RGD:71082 D RGD:9068941 20201211 RGD PMID:25593290|REF_RGD_ID:38500244 8700292 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:9005151 Selective Tooth Agenesis 1 ISO RGD:735373 D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Tooth agenesis, selective, 1 PMID:19555857|PMID:20002458|PMID:21737554|PMID:25741868|PMID:26387786|PMID:28492532|PMID:36675162 8700292 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:71082 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:21521772|REF_RGD_ID:5135278 8700292 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:735373 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 8700292 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:9008582 Developmental Disease ISO RGD:735373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8700292 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:9008763 Femoral Fractures ISO RGD:71082 D RGD:9068941 20200609 RGD PMID:9626398|REF_RGD_ID:2289041 8700292 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:9008939 Breast Neoplasms ISO RGD:735373 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23180569 8700292 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:9009117 primary pulmonary hypertension 1 ISO RGD:735373 D RGD:7240710 20180905 OMIM 8700292 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:9009117 primary pulmonary hypertension 1 ISO RGD:735373 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: BMPR2-related disorder | ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 | ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1, with hereditary hemorrhagic telangiectasia PMID:10903931|PMID:10973254|PMID:11015450|PMID:11115378|PMID:11502704|PMID:11536076|PMID:12045205|PMID:12139571|PMID:12358323|PMID:12417513|PMID:12446270|PMID:12821254|PMID:14516151|PMID:14583445|PMID:14985116|PMID:15055271|PMID:15059534|PMID:15146475|PMID:15170098|PMID:15358693|PMID:15591269|PMID:15687131|PMID:15775752|PMID:15965979|PMID:16199547|PMID:16429395|PMID:16429403|PMID:16717148|PMID:16728714|PMID:17515463|PMID:17576681|PMID:18159113|PMID:18221724|PMID:18321866|PMID:18356561|PMID:18364108|PMID:18386374|PMID:18503968|PMID:18792970|PMID:19206171|PMID:19223935|PMID:19324947|PMID:19555857|PMID:19844076|PMID:20002458|PMID:20095988|PMID:20096498|PMID:20496075|PMID:20534176|PMID:21070126|PMID:21228398|PMID:21737554|PMID:21801371|PMID:22632830|PMID:22995991|PMID:23139147|PMID:23298310|PMID:23579436|PMID:23592887|PMID:23675998|PMID:24033266|PMID:24583436|PMID:24591673|PMID:24853021|PMID:24936649|PMID:25187962|PMID:25429696|PMID:25612240|PMID:25640679|PMID:25688877|PMID:25741868|PMID:25917481|PMID:26387786|PMID:26645265|PMID:26699722|PMID:27002414|PMID:27453251|PMID:27630060|PMID:27811071|PMID:27816994|PMID:27884767|PMID:28388887|PMID:28391780|PMID:28492532|PMID:28507310|PMID:29631995|PMID:29650961|PMID:29718794|PMID:29743074|PMID:29843651|PMID:30029678|PMID:30084161|PMID:30578397|PMID:30679663|PMID:30809644|PMID:31727138|PMID:31797984|PMID:32581362|PMID:3291115|PMID:33066286|PMID:33380512|PMID:34400635|PMID:34589526|PMID:34697415|PMID:36675162|PMID:9536098|PMID:9886286 8700315 Sfrp2 secreted frizzled related protein 2 gene DOID:0050589 inflammatory bowel disease ISO RGD:1345643 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18716850 8700315 Sfrp2 secreted frizzled related protein 2 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1345643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 8700315 Sfrp2 secreted frizzled related protein 2 gene DOID:4450 renal cell carcinoma ISO RGD:1345643 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18404682 8700315 Sfrp2 secreted frizzled related protein 2 gene DOID:5844 myocardial infarction ISO RGD:1550582 D RGD:9068941 20230204 RGD PMID:19079247|REF_RGD_ID:155883169 8700315 Sfrp2 secreted frizzled related protein 2 gene DOID:5844 myocardial infarction ISO RGD:735163 D RGD:9068941 20200609 RGD PMID:19109969|REF_RGD_ID:4107088 8700315 Sfrp2 secreted frizzled related protein 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:735163 D RGD:9068941 20200609 RGD PMID:19109969|REF_RGD_ID:4107088 8700315 Sfrp2 secreted frizzled related protein 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1345643 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17923031|PMID:18716850 8700315 Sfrp2 secreted frizzled related protein 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1345643 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18283316 8700322 Foxh1 forkhead box H1 gene DOID:0050545 visceral heterotaxy ISO RGD:1322646 D RGD:9068941 20220825 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 8700322 Foxh1 forkhead box H1 gene DOID:0060341 agnathia-otocephaly complex ISO RGD:1322646 D RGD:9068941 20220825 MouseDO OMIM:202650 8700322 Foxh1 forkhead box H1 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1322645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 8700322 Foxh1 forkhead box H1 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1322645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 8700322 Foxh1 forkhead box H1 gene DOID:4621 holoprosencephaly ISO RGD:1322645 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FOXH1-related condition | ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:18538293|PMID:25741868|PMID:28492532 8700322 Foxh1 forkhead box H1 gene DOID:630 genetic disease ISO RGD:1322645 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8700322 Foxh1 forkhead box H1 gene DOID:6419 tetralogy of Fallot ISO RGD:1322645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25093829 8700322 Foxh1 forkhead box H1 gene DOID:9003884 Recombinant Chromosome 8 Syndrome ISO RGD:1322645 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Recombinant 8 syndrome PMID:31690835 8700322 Foxh1 forkhead box H1 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1322645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Conotruncal defect PMID:25741868|PMID:32003456 8700353 Klhdc8a kelch domain containing 8A gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1605377 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 8700353 Klhdc8a kelch domain containing 8A gene DOID:12849 autistic disorder ISO RGD:1605377 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8700353 Klhdc8a kelch domain containing 8A gene DOID:1540 parathyroid carcinoma ISO RGD:1605377 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8700353 Klhdc8a kelch domain containing 8A gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1605377 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8700353 Klhdc8a kelch domain containing 8A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605377 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8700369 Tsga13 testis specific 13 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1314383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8700387 Dgkz diacylglycerol kinase zeta gene DOID:0050444 infantile Refsum disease ISO RGD:733860 D RGD:8554872 20221004 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:11890679|PMID:20647552|PMID:20681997|PMID:28492532|PMID:9837814 8700387 Dgkz diacylglycerol kinase zeta gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:733860 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 8700387 Dgkz diacylglycerol kinase zeta gene DOID:1059 intellectual disability ISO RGD:733860 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8700387 Dgkz diacylglycerol kinase zeta gene DOID:12849 autistic disorder ISO RGD:733860 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Autism 8700387 Dgkz diacylglycerol kinase zeta gene DOID:5844 myocardial infarction ISO RGD:733860 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17071729 8700387 Dgkz diacylglycerol kinase zeta gene DOID:630 genetic disease ISO RGD:733860 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8700387 Dgkz diacylglycerol kinase zeta gene DOID:9002669 Hypoxia ISO RGD:70929 D RGD:9068941 20200609 RGD protein:decreased dimerization:hippocampus (rat) PMID:24893663|REF_RGD_ID:9590077 8700387 Dgkz diacylglycerol kinase zeta gene DOID:9008086 Developmental Disabilities ISO RGD:733860 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 8700387 Dgkz diacylglycerol kinase zeta gene DOID:905 Zellweger syndrome ISO RGD:733860 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:11890679|PMID:20647552|PMID:20681997|PMID:28492532|PMID:9837814 8700440 Srbd1 S1 RNA binding domain 1 gene DOID:3883 Lynch syndrome ISO RGD:1602705 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 8700475 Zmat3 zinc finger matrin-type 3 gene DOID:0111546 Currarino syndrome ISO RGD:1602466 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 8700475 Zmat3 zinc finger matrin-type 3 gene DOID:10283 prostate cancer ISO RGD:1602466 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8700475 Zmat3 zinc finger matrin-type 3 gene DOID:9002955 Nerve Degeneration ISO RGD:1602466 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17234339 8700490 Pdap1 PDGFA associated protein 1 gene DOID:3070 high grade glioma severity ISO RGD:733658 D RGD:9068941 20200609 RGD PMID:27448842|REF_RGD_ID:13702895 8700490 Pdap1 PDGFA associated protein 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:733658 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8700500 Zng1a Zn regulated GTPase metalloprotein activator 1A gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1348830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 8700500 Zng1a Zn regulated GTPase metalloprotein activator 1A gene DOID:0080205 CAKUT ISO RGD:1552833 D RGD:9068941 20220825 MouseDO 8700500 Zng1a Zn regulated GTPase metalloprotein activator 1A gene DOID:0080545 hyper IgE syndrome ISO RGD:1348830 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive PMID:33290277 8700500 Zng1a Zn regulated GTPase metalloprotein activator 1A gene DOID:0080594 hyper IgE recurrent infection syndrome 2 ISO RGD:1348830 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE PMID:33290277 8700500 Zng1a Zn regulated GTPase metalloprotein activator 1A gene DOID:0080600 COVID-19 ISO RGD:1348830 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8700500 Zng1a Zn regulated GTPase metalloprotein activator 1A gene DOID:5419 schizophrenia ISO RGD:1348830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8700530 Tp53i13 tumor protein p53 inducible protein 13 gene DOID:0111253 neurofibromatosis 1 ISO RGD:1605319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 8700530 Tp53i13 tumor protein p53 inducible protein 13 gene DOID:630 genetic disease ISO RGD:1605319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8700530 Tp53i13 tumor protein p53 inducible protein 13 gene DOID:9008582 Developmental Disease ISO RGD:1605319 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8700541 Prickle3 prickle planar cell polarity protein 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8700541 Prickle3 prickle planar cell polarity protein 3 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1350042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 8700541 Prickle3 prickle planar cell polarity protein 3 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1350042 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 8700541 Prickle3 prickle planar cell polarity protein 3 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1350042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 8700541 Prickle3 prickle planar cell polarity protein 3 gene DOID:0111754 Leber plus disease ISO RGD:1553854 D RGD:9068941 20220825 MouseDO 8700541 Prickle3 prickle planar cell polarity protein 3 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1350042 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 8700541 Prickle3 prickle planar cell polarity protein 3 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1350042 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 8700541 Prickle3 prickle planar cell polarity protein 3 gene DOID:10003 sensorineural hearing loss ISO RGD:1350042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive sensorineural hearing impairment PMID:27876815 8700541 Prickle3 prickle planar cell polarity protein 3 gene DOID:12849 autistic disorder ISO RGD:1350042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8700541 Prickle3 prickle planar cell polarity protein 3 gene DOID:705 Leber hereditary optic neuropathy ISO RGD:1350042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber optic atrophy PMID:32516135 8700541 Prickle3 prickle planar cell polarity protein 3 gene DOID:9000557 Thrombocytopenia 1 ISO RGD:1350042 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Thrombocytopenia, X-linked PMID:28492532 8700541 Prickle3 prickle planar cell polarity protein 3 gene DOID:9004196 Leber Optic Atrophy, Susceptibility To ISO RGD:1350042 D RGD:7240710 20220309 OMIM 8700541 Prickle3 prickle planar cell polarity protein 3 gene DOID:9169 Wiskott-Aldrich syndrome ISO RGD:1350042 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 PMID:28492532 8700566 Rnf38 ring finger protein 38 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ISO RGD:737292 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 8700566 Rnf38 ring finger protein 38 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:737292 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 8700566 Rnf38 ring finger protein 38 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:737292 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 8700566 Rnf38 ring finger protein 38 gene DOID:607 paraplegia ISO RGD:737292 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:23332916|PMID:23332917|PMID:28492532 8700566 Rnf38 ring finger protein 38 gene DOID:9562 primary ciliary dyskinesia ISO RGD:737292 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8700566 Rnf38 ring finger protein 38 gene DOID:9870 galactosemia ISO RGD:737292 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 8700604 H3f3b H3 histone, family 3B gene DOID:0050797 peroxisomal acyl-CoA oxidase deficiency ISO RGD:733608 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: STRAIGHT-CHAIN ACYL-CoA OXIDASE DEFICIENCY PMID:28492532 8700604 H3f3b H3 histone, family 3B gene DOID:0051012 Bryant-Li-Bhoj neurodevelopmental syndrome 2 ISO RGD:733608 D RGD:7240710 20220223 OMIM 8700604 H3f3b H3 histone, family 3B gene DOID:0051012 Bryant-Li-Bhoj neurodevelopmental syndrome 2 ISO RGD:733608 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Bryant-Li-Bhoj neurodevelopmental syndrome 2 | ClinVar Annotator: match by term: H3-3B-related condition PMID:25741868|PMID:33268356|PMID:34876591 8700604 H3f3b H3 histone, family 3B gene DOID:2649 chondroblastoma ISO RGD:733608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24162739 8700604 H3f3b H3 histone, family 3B gene DOID:305 carcinoma ISO RGD:733609 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8700604 H3f3b H3 histone, family 3B gene DOID:630 genetic disease ISO RGD:733608 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:33268356|PMID:34876591 8700604 H3f3b H3 histone, family 3B gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:733609 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8700604 H3f3b H3 histone, family 3B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733608 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:33268356|PMID:34876591 8700604 H3f3b H3 histone, family 3B gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:733609 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8700604 H3f3b H3 histone, family 3B gene DOID:9008086 Developmental Disabilities ISO RGD:733608 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:33268356|PMID:34876591 8700638 Cdh12 cadherin 12 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1343875 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29662167 8700638 Cdh12 cadherin 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8700662 Aldh16a1 aldehyde dehydrogenase 16 family member A1 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1350465 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 8700662 Aldh16a1 aldehyde dehydrogenase 16 family member A1 gene DOID:0112127 HRPT-related hyperuricemia ISO RGD:1350465 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23348497 8700662 Aldh16a1 aldehyde dehydrogenase 16 family member A1 gene DOID:13189 gout ISO RGD:1350465 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21983786 8700662 Aldh16a1 aldehyde dehydrogenase 16 family member A1 gene DOID:1920 hyperuricemia ISO RGD:1350465 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23348497 8700689 Slc33a1 solute carrier family 33 member 1 gene DOID:0110763 hereditary spastic paraplegia 10 ISO RGD:732825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant 8700689 Slc33a1 solute carrier family 33 member 1 gene DOID:0110794 hereditary spastic paraplegia 42 ISO RGD:732825 D RGD:7240710 20180130 OMIM 8700689 Slc33a1 solute carrier family 33 member 1 gene DOID:0110794 hereditary spastic paraplegia 42 ISO RGD:732825 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 42 PMID:19061983|PMID:24583203|PMID:25402622|PMID:25741868|PMID:26467025|PMID:28492532|PMID:35588347 8700689 Slc33a1 solute carrier family 33 member 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:732825 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:24215330|PMID:24583203|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29908077|PMID:35588347 8700689 Slc33a1 solute carrier family 33 member 1 gene DOID:607 paraplegia ISO RGD:732825 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:22243965|PMID:24215330|PMID:24583203|PMID:25741868|PMID:26467025|PMID:27306358|PMID:28492532|PMID:29908077|PMID:35588347|PMID:35999711 8700689 Slc33a1 solute carrier family 33 member 1 gene DOID:630 genetic disease ISO RGD:732825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8700689 Slc33a1 solute carrier family 33 member 1 gene DOID:83 cataract ISO RGD:732825 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22243965 8700689 Slc33a1 solute carrier family 33 member 1 gene DOID:9004538 Hearing Loss ISO RGD:732825 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22243965 8700689 Slc33a1 solute carrier family 33 member 1 gene DOID:9005895 Congenital Cataracts, Hearing Loss, and Neurodegeneration ISO RGD:732825 D RGD:7240710 20180130 OMIM 8700689 Slc33a1 solute carrier family 33 member 1 gene DOID:9005895 Congenital Cataracts, Hearing Loss, and Neurodegeneration ISO RGD:732825 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Huppke-Brendel syndrome | ClinVar Annotator: match by term: SLC33A1-related condition PMID:15902551|PMID:22243965|PMID:22508683|PMID:24215330|PMID:25741868|PMID:26467025|PMID:27306358|PMID:28492532|PMID:29908077|PMID:31194315|PMID:35999711 8700689 Slc33a1 solute carrier family 33 member 1 gene DOID:9008086 Developmental Disabilities ISO RGD:732825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:32581362 8700706 Otos otospiralin gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1349689 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8700706 Otos otospiralin gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1349689 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8700706 Otos otospiralin gene DOID:0111670 primary hyperoxaluria type 1 ISO RGD:1349689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:22821680 8700706 Otos otospiralin gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1349689 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 8700706 Otos otospiralin gene DOID:1059 intellectual disability ISO RGD:1349689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8700706 Otos otospiralin gene DOID:9001550 Bethlem Myopathy 1A ISO RGD:1349689 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1A PMID:26004199|PMID:28492532 8700722 Sike1 suppressor of IKBKE 1 gene DOID:0080690 RASopathy ISO RGD:1602207 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8700722 Sike1 suppressor of IKBKE 1 gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1602207 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 8700733 LOC102022645 25-hydroxycholesterol 7-alpha-hydroxylase gene DOID:0050674 congenital bile acid synthesis defect ISO RGD:735270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital bile acid synthesis defect PMID:25741868|PMID:28492532 8700733 LOC102022645 25-hydroxycholesterol 7-alpha-hydroxylase gene DOID:0050952 spastic ataxia ISO RGD:735270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 8700733 LOC102022645 25-hydroxycholesterol 7-alpha-hydroxylase gene DOID:0110810 hereditary spastic paraplegia 5A ISO RGD:735270 D RGD:7240710 20180130 OMIM 8700733 LOC102022645 25-hydroxycholesterol 7-alpha-hydroxylase gene DOID:0110810 hereditary spastic paraplegia 5A ISO RGD:735270 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A PMID:12874406|PMID:15007371|PMID:16199547|PMID:17503452|PMID:17576681|PMID:18252231|PMID:18367963|PMID:18855023|PMID:19187859|PMID:19363635|PMID:19439320|PMID:1943942|PMID:19439420|PMID:19812052|PMID:21214876|PMID:21452256|PMID:21541746|PMID:21567895|PMID:21623769|PMID:21966169|PMID:22384504|PMID:22652365|PMID:23812641|PMID:24033266|PMID:24117163|PMID:24340040|PMID:24482476|PMID:24519355|PMID:24641183|PMID:24658845|PMID:24927729|PMID:25324891|PMID:25326635|PMID:25326637|PMID:25525159|PMID:25741868|PMID:26370385|PMID:26374131|PMID:26467025|PMID:26714052|PMID:27077743|PMID:27217339|PMID:27879216|PMID:27879220|PMID:27957547|PMID:28039895|PMID:28492532|PMID:28832565|PMID:29126212|PMID:29228183|PMID:29246610|PMID:29482223|PMID:29980238|PMID:31227335|PMID:31407473|PMID:31589614|PMID:31692161|PMID:31980526|PMID:32202070|PMID:33160247|PMID:34234304|PMID:34426522|PMID:34782662|PMID:34983064|PMID:35578252|PMID:37712079|PMID:7987300|PMID:9536098|PMID:9802883 8700733 LOC102022645 25-hydroxycholesterol 7-alpha-hydroxylase gene DOID:0110998 Joubert syndrome 3 ISO RGD:735270 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Joubert syndrome 3 PMID:19439420|PMID:21214876|PMID:21541746|PMID:24519355|PMID:25326637|PMID:25741868|PMID:28492532|PMID:31692161|PMID:34234304|PMID:34983064 8700733 LOC102022645 25-hydroxycholesterol 7-alpha-hydroxylase gene DOID:0111070 congenital bile acid synthesis defect 3 ISO RGD:735270 D RGD:7240710 20180130 OMIM 8700733 LOC102022645 25-hydroxycholesterol 7-alpha-hydroxylase gene DOID:0111070 congenital bile acid synthesis defect 3 ISO RGD:735270 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: CYP7B1-related condition | ClinVar Annotator: match by term: Congenital bile acid synthesis defect 3 PMID:17503452|PMID:17576681|PMID:18252231|PMID:18367963|PMID:19363635|PMID:1943942|PMID:19439420|PMID:19812052|PMID:21214876|PMID:21541746|PMID:21567895|PMID:21623769|PMID:22384504|PMID:23812641|PMID:24033266|PMID:24117163|PMID:24482476|PMID:24519355|PMID:24641183|PMID:24658845|PMID:24927729|PMID:25324891|PMID:25326637|PMID:25741868|PMID:26374131|PMID:26467025|PMID:27077743|PMID:27217339|PMID:27879216|PMID:27957547|PMID:28039895|PMID:28492532|PMID:28832565|PMID:29126212|PMID:29228183|PMID:29980238|PMID:31589614|PMID:31692161|PMID:33160247|PMID:34234304|PMID:34426522|PMID:34983064|PMID:39825153|PMID:7987300|PMID:9536098|PMID:9802883 8700733 LOC102022645 25-hydroxycholesterol 7-alpha-hydroxylase gene DOID:13580 cholestasis ISO RGD:735270 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9802883 8700733 LOC102022645 25-hydroxycholesterol 7-alpha-hydroxylase gene DOID:2476 hereditary spastic paraplegia ISO RGD:735270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive PMID:12874406|PMID:15007371|PMID:18252231|PMID:18367963|PMID:18855023|PMID:19187859|PMID:19363635|PMID:19439420|PMID:19812052|PMID:21214876|PMID:21541746|PMID:21567895|PMID:21623769|PMID:21966169|PMID:22384504|PMID:23812641|PMID:24033266|PMID:24117163|PMID:2411763|PMID:24340040|PMID:24641183|PMID:24658845|PMID:24927729|PMID:25326635|PMID:25525159|PMID:25741868|PMID:26370385|PMID:26467025|PMID:26714052|PMID:27077743|PMID:27217339|PMID:27879216|PMID:27957547|PMID:28492532|PMID:28832565|PMID:29228183|PMID:29980238|PMID:7987300 8700733 LOC102022645 25-hydroxycholesterol 7-alpha-hydroxylase gene DOID:2476 hereditary spastic paraplegia ISO RGD:735270 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive PMID:12874406|PMID:15007371|PMID:17503452|PMID:17576681|PMID:18252231|PMID:18367963|PMID:18855023|PMID:19187859|PMID:19363635|PMID:1943942|PMID:19439420|PMID:19812052|PMID:21214876|PMID:21541746|PMID:21567895|PMID:21623769|PMID:21966169|PMID:22384504|PMID:23812641|PMID:24033266|PMID:24117163|PMID:24340040|PMID:24519355|PMID:24641183|PMID:24658845|PMID:24927729|PMID:25324891|PMID:25326635|PMID:25326637|PMID:25525159|PMID:25741868|PMID:26370385|PMID:26467025|PMID:26714052|PMID:27077743|PMID:27217339|PMID:27879216|PMID:27879220|PMID:27957547|PMID:28039895|PMID:28492532|PMID:28832565|PMID:29126212|PMID:29228183|PMID:29246610|PMID:29980238|PMID:31589614|PMID:31692161|PMID:32202070|PMID:33160247|PMID:34234304|PMID:34426522|PMID:34983064|PMID:7987300|PMID:9536098|PMID:9802883 8700733 LOC102022645 25-hydroxycholesterol 7-alpha-hydroxylase gene DOID:299 adenocarcinoma ISO RGD:735270 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17639508 8700733 LOC102022645 25-hydroxycholesterol 7-alpha-hydroxylase gene DOID:3146 lipid metabolism disorder ISO RGD:735270 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18252231 8700733 LOC102022645 25-hydroxycholesterol 7-alpha-hydroxylase gene DOID:409 liver disease ISO RGD:735270 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9802883 8700733 LOC102022645 25-hydroxycholesterol 7-alpha-hydroxylase gene DOID:607 paraplegia ISO RGD:735270 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:12874406|PMID:15007371|PMID:16199547|PMID:17503452|PMID:17576681|PMID:18252231|PMID:18367963|PMID:18855023|PMID:19187859|PMID:19363635|PMID:19439320|PMID:1943942|PMID:19439420|PMID:19812052|PMID:21214876|PMID:21452256|PMID:21541746|PMID:21567895|PMID:21623769|PMID:21966169|PMID:22384504|PMID:22652365|PMID:23812641|PMID:24033266|PMID:24117163|PMID:24340040|PMID:24482476|PMID:24519355|PMID:24641183|PMID:24658845|PMID:24927729|PMID:25324891|PMID:25326635|PMID:25326637|PMID:25525159|PMID:25741868|PMID:26370385|PMID:26374131|PMID:26467025|PMID:26714052|PMID:27077743|PMID:27217339|PMID:27260292|PMID:27879216|PMID:27879220|PMID:27957547|PMID:28039895|PMID:28492532|PMID:28832565|PMID:29126212|PMID:29228183|PMID:29246610|PMID:29482223|PMID:29980238|PMID:30546280|PMID:30799092|PMID:31227335|PMID:31407473|PMID:31589614|PMID:31692161|PMID:31980526|PMID:32202070|PMID:33160247|PMID:34234304|PMID:34426522|PMID:34782662|PMID:34983064|PMID:35464835|PMID:35578252|PMID:37712079|PMID:7987300|PMID:9536098|PMID:9802883 8700733 LOC102022645 25-hydroxycholesterol 7-alpha-hydroxylase gene DOID:630 genetic disease ISO RGD:735270 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18367963|PMID:19363635|PMID:19439420|PMID:21541746|PMID:21567895|PMID:24117163|PMID:24641183|PMID:25741868|PMID:26467025|PMID:28039895|PMID:28492532|PMID:29980238|PMID:33160247|PMID:9802883 8700733 LOC102022645 25-hydroxycholesterol 7-alpha-hydroxylase gene DOID:9002304 Prostatic Neoplasms ISO RGD:735270 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17639508 8700733 LOC102022645 25-hydroxycholesterol 7-alpha-hydroxylase gene DOID:9452 steatotic liver disease ISO RGD:735270 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23391614 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:0050938 breast lobular carcinoma ISO RGD:737523 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:15609129 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:0060071 pre-malignant neoplasm ISO RGD:737523 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15609129 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:0060074 ductal carcinoma in situ ISO RGD:737523 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15609129 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:0060074 ductal carcinoma in situ ISO RGD:737523 D RGD:9068941 20200609 RGD protein:altered localization:nucleus PMID:15609129|REF_RGD_ID:2291932 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:0060074 ductal carcinoma in situ ISO RGD:737523 D RGD:9068941 20200609 RGD protein:decreased expression:breast PMID:16133357|REF_RGD_ID:2291930 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:737523 D RGD:9068941 20220407 RGD protein:increased phosphorylation:bone marrow (human) PMID:27018255|REF_RGD_ID:151665817 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:0080836 growth hormone insensitivity syndrome with immune dysregulation 1 ISO RGD:737523 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Growth hormone insensitivity with immune dysregulation 1, autosomal recessive PMID:28492532 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:0080909 castration-resistant prostate carcinoma disease_progression ISO RGD:737523 D RGD:9068941 20220414 RGD DNA:CNV: :prostate (human) PMID:23660011|REF_RGD_ID:151667415 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:0080909 castration-resistant prostate carcinoma treatment ISO RGD:11351 D RGD:9068941 20220414 RGD PMID:23660011|REF_RGD_ID:151667415 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:10283 prostate cancer disease_progression ISO RGD:737523 D RGD:9068941 20220414 RGD DNA:CNV: :prostate (human) PMID:23660011|REF_RGD_ID:151667415 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:10485 esophageal atresia ISO RGD:737523 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:234 colon adenocarcinoma ISO RGD:737523 D RGD:9068941 20220812 RGD DNA:SNP:intron: (rs7217728) (human) PMID:22121102|REF_RGD_ID:153323313 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:299 adenocarcinoma ISO RGD:737523 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20235097|PMID:21552421 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:305 carcinoma ISO RGD:737523 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942|PMID:17173897 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:3068 glioblastoma disease_progression ISO RGD:737523 D RGD:9068941 20220414 RGD mRNA, protein:increased expression:brain (human) PMID:31783691|REF_RGD_ID:151667907 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:3068 glioblastoma treatment ISO RGD:737523 D RGD:9068941 20220414 RGD human cells in mouse model PMID:31783691|REF_RGD_ID:151667907 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:3261 hyper IgE recurrent infection syndrome 1 ISO RGD:737523 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant PMID:28492532 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:3457 invasive lobular carcinoma ISO RGD:737523 D RGD:9068941 20200609 RGD protein:altered localization:nucleus PMID:15609129|REF_RGD_ID:2291932 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:3717 gastric adenocarcinoma exacerbates ISO RGD:737523 D RGD:9068941 20220729 RGD mRNA:increased expression:stomach (human) PMID:33042401|REF_RGD_ID:153298934 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:11351 D RGD:9068941 20210702 RGD PMID:28100771|REF_RGD_ID:127285675 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:707 B-cell lymphoma ISO RGD:11351 D RGD:9068941 20220407 RGD PMID:27018255|REF_RGD_ID:151665817 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:8552 chronic myeloid leukemia ISO RGD:737523 D RGD:9068941 20220414 RGD mRNA:increased expression:PBMC (human) PMID:31952546|REF_RGD_ID:151667904 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:8552 chronic myeloid leukemia disease_progression ISO RGD:11351 D RGD:9068941 20220414 RGD PMID:16522816|REF_RGD_ID:151667903 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:8552 chronic myeloid leukemia treatment ISO RGD:737523 D RGD:9068941 20220414 RGD human cells in mouse model PMID:31952546|REF_RGD_ID:151667904 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:737523 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:15609129|PMID:16316942|PMID:17173897|PMID:20235097 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:737523 D RGD:9068941 20220414 RGD DNA:CNV: :prostate (human) PMID:23660011|REF_RGD_ID:151667415 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:3773 D RGD:9068941 20220331 RGD PMID:30346985|REF_RGD_ID:151665755 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:9004009 Reperfusion Injury ISO RGD:3773 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:17880360|REF_RGD_ID:2303397 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:9004713 Acute-Phase Reaction ISO RGD:3773 D RGD:9068941 20220331 RGD protein:increased expression:liver (rat) PMID:7519723|REF_RGD_ID:151665740 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:9005172 Lung Neoplasms ISO RGD:737523 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:11351 D RGD:9068941 20220407 RGD PMID:20181624|REF_RGD_ID:151665819 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:3773 D RGD:9068941 20200609 RGD protein:altered localization:nucleus PMID:15609129|REF_RGD_ID:2291932 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:3773 D RGD:9068941 20200609 RGD protein:increased tyrosine phosphorylation:mammary gland PMID:17173897|REF_RGD_ID:2291927 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:3773 D RGD:9068941 20220324 RGD mRNA:increased expression:mammary gland (rat) PMID:16316942|REF_RGD_ID:2306898 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:3773 D RGD:9068941 20220331 RGD mRNA, protein:increased expression:mammary gland (rat) PMID:12376462|REF_RGD_ID:2292404 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:737523 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:15609129|PMID:16316942 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:9005233 Experimental Mammary Neoplasms susceptibility ISO RGD:11351 D RGD:9068941 20200609 RGD PMID:12082622|REF_RGD_ID:2298539 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:9006928 Viral Bronchiolitis severity ISO RGD:737523 D RGD:9068941 20201218 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:26541527|REF_RGD_ID:40902860 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:9007102 Myocardial Ischemia ISO RGD:737523 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15746188 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:9008138 Ductal Carcinoma ISO RGD:737523 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15609129 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:9008939 Breast Neoplasms ISO RGD:737523 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15609129 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:9008939 Breast Neoplasms ISO RGD:737523 D RGD:9068941 20200609 RGD protein:altered localization:nucleus PMID:15609129|REF_RGD_ID:2291932 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:9008939 Breast Neoplasms ISO RGD:737523 D RGD:9068941 20200609 RGD protein:decreased expression:breast PMID:16133357|REF_RGD_ID:2291930 8700836 Rps26 ribosomal protein S26 gene DOID:0111888 Diamond-Blackfan anemia 10 ISO RGD:1344988 D RGD:7240710 20180130 OMIM 8700836 Rps26 ribosomal protein S26 gene DOID:0111888 Diamond-Blackfan anemia 10 ISO RGD:1344988 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 10 | ClinVar Annotator: match by term: RPS26-related condition PMID:16199547|PMID:17483715|PMID:17576681|PMID:19816270|PMID:20116044|PMID:21414820|PMID:22045982|PMID:22381658|PMID:22689679|PMID:23718193|PMID:23812780|PMID:24675553|PMID:24942156|PMID:25741868|PMID:25946618|PMID:26136524|PMID:28102861|PMID:28492532|PMID:29114930|PMID:37376976|PMID:9536098 8700836 Rps26 ribosomal protein S26 gene DOID:0111894 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis ISO RGD:1344988 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis PMID:17483715|PMID:19816270|PMID:20116044|PMID:23718193|PMID:24675553|PMID:24942156|PMID:28492532 8700836 Rps26 ribosomal protein S26 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1344988 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:16199547|PMID:19816270|PMID:20116044|PMID:21414820|PMID:22381658|PMID:23718193|PMID:24675553|PMID:24942156|PMID:25741868|PMID:26136524|PMID:26604301|PMID:27329125|PMID:28102861|PMID:28492532|PMID:29114930 8700836 Rps26 ribosomal protein S26 gene DOID:2355 anemia ISO RGD:1344988 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anemia PMID:32581362 8700836 Rps26 ribosomal protein S26 gene DOID:9000217 Stomach Neoplasms ISO RGD:1344988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8700836 Rps26 ribosomal protein S26 gene DOID:9000918 Disease Progression ISO RGD:1344988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8700844 Minpp1 multiple inositol-polyphosphate phosphatase 1 gene DOID:0050787 juvenile polyposis syndrome ISO RGD:733356 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile polyposis syndrome PMID:14526373|PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:28492532|PMID:9286463|PMID:9467011 8700844 Minpp1 multiple inositol-polyphosphate phosphatase 1 gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:733356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:28492532|PMID:9286463|PMID:9467011 8700844 Minpp1 multiple inositol-polyphosphate phosphatase 1 gene DOID:0112333 pontocerebellar hypoplasia type 16 ISO RGD:733356 D RGD:7240710 20211006 OMIM 8700844 Minpp1 multiple inositol-polyphosphate phosphatase 1 gene DOID:0112333 pontocerebellar hypoplasia type 16 ISO RGD:733356 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 16 PMID:25741868|PMID:33168985|PMID:33257696 8700844 Minpp1 multiple inositol-polyphosphate phosphatase 1 gene DOID:2891 thyroid adenoma ISO RGD:733356 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Thyroid adenoma PMID:11297621|PMID:25741868 8700844 Minpp1 multiple inositol-polyphosphate phosphatase 1 gene DOID:37 skin disease ISO RGD:733356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 8700844 Minpp1 multiple inositol-polyphosphate phosphatase 1 gene DOID:9004547 Thyroid Neoplasms ISO RGD:733356 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity PMID:11297621|REF_RGD_ID:737769 8700844 Minpp1 multiple inositol-polyphosphate phosphatase 1 gene DOID:9006494 Follicular Thyroid Cancer ISO RGD:733356 D RGD:7240710 20180130 OMIM 8700844 Minpp1 multiple inositol-polyphosphate phosphatase 1 gene DOID:9006494 Follicular Thyroid Cancer ISO RGD:733356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MINPP1-related condition | ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 2 PMID:11297621 8700844 Minpp1 multiple inositol-polyphosphate phosphatase 1 gene DOID:9007964 Arsenic Poisoning ISO RGD:733356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 8700856 Aars1 alanyl-tRNA synthetase 1 gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1312500 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I 8700856 Aars1 alanyl-tRNA synthetase 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1312500 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:17576681|PMID:20045102|PMID:22009580|PMID:22206013|PMID:23806086|PMID:24088041|PMID:24627108|PMID:25025039|PMID:25741868|PMID:25783436|PMID:25817015|PMID:25904691|PMID:26032230|PMID:26257172|PMID:26752306|PMID:27164712|PMID:27549087|PMID:27993330|PMID:28166811|PMID:28492532|PMID:28493438|PMID:29653220|PMID:30124830|PMID:30373780|PMID:32314272|PMID:33909043|PMID:9536098 8700856 Aars1 alanyl-tRNA synthetase 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1312500 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:16199547|PMID:17576681|PMID:20045102|PMID:22009580|PMID:23806086|PMID:24088041|PMID:24627108|PMID:25025039|PMID:25326637|PMID:25741868|PMID:25783436|PMID:25817015|PMID:25904691|PMID:26032230|PMID:26257172|PMID:26752306|PMID:27164712|PMID:27549087|PMID:27993330|PMID:28492532|PMID:28493438|PMID:29653220|PMID:30124830|PMID:30373780|PMID:31791873|PMID:32314272|PMID:32376792|PMID:32403337|PMID:32571458|PMID:33294374|PMID:33909043|PMID:9536098 8700856 Aars1 alanyl-tRNA synthetase 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1312500 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:16199547|PMID:17576681|PMID:20045102|PMID:22009580|PMID:22206013|PMID:23806086|PMID:24088041|PMID:24627108|PMID:25025039|PMID:25741868|PMID:25817015|PMID:25904691|PMID:26032230|PMID:26257172|PMID:26752306|PMID:27164712|PMID:27549087|PMID:27993330|PMID:28166811|PMID:28492532|PMID:28493438|PMID:28902413|PMID:29653220|PMID:30124830|PMID:30373780|PMID:31791873|PMID:31827005|PMID:32314272|PMID:32376792|PMID:32571458|PMID:33294374|PMID:33753480|PMID:33909043|PMID:34446925|PMID:6492094|PMID:9536098 8700856 Aars1 alanyl-tRNA synthetase 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1312500 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:16199547|PMID:17576681|PMID:20045102|PMID:21208200|PMID:21494555|PMID:22009580|PMID:22206013|PMID:23806086|PMID:24088041|PMID:24627108|PMID:25025039|PMID:25741868|PMID:25817015|PMID:25904691|PMID:26032230|PMID:26257172|PMID:26752306|PMID:27164712|PMID:27549087|PMID:27993330|PMID:28492532|PMID:28493438|PMID:28902413|PMID:29653220|PMID:30124830|PMID:30214071|PMID:30373780|PMID:31130284|PMID:31791873|PMID:31827005|PMID:32314272|PMID:32376792|PMID:32571458|PMID:33294374|PMID:33753480|PMID:33909043|PMID:34446925|PMID:34645488|PMID:34650302|PMID:6492094|PMID:7842019|PMID:9536098 8700856 Aars1 alanyl-tRNA synthetase 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1312500 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:16199547|PMID:17576681|PMID:20045102|PMID:21208200|PMID:21494555|PMID:22009580|PMID:22206013|PMID:23806086|PMID:24088041|PMID:24627108|PMID:25025039|PMID:25640679|PMID:25741868|PMID:25817015|PMID:25904691|PMID:26032230|PMID:26257172|PMID:26752306|PMID:27164712|PMID:27549087|PMID:27993330|PMID:28492532|PMID:28493438|PMID:28902413|PMID:29653220|PMID:30124830|PMID:30214071|PMID:30373780|PMID:31130284|PMID:31791873|PMID:31827005|PMID:32314272|PMID:32376792|PMID:32571458|PMID:33294374|PMID:33753480|PMID:33909043|PMID:34446925|PMID:34645488|PMID:34650302|PMID:6492094|PMID:7842019|PMID:9536098 8700856 Aars1 alanyl-tRNA synthetase 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1312500 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:16199547|PMID:17576681|PMID:20045102|PMID:21208200|PMID:21494555|PMID:22009580|PMID:22206013|PMID:23806086|PMID:24088041|PMID:24627108|PMID:25025039|PMID:25640679|PMID:25741868|PMID:25817015|PMID:25904691|PMID:26032230|PMID:26257172|PMID:26752306|PMID:27164712|PMID:27549087|PMID:27993330|PMID:28492532|PMID:28493438|PMID:28902413|PMID:29653220|PMID:30124830|PMID:30214071|PMID:30373780|PMID:31130284|PMID:31791873|PMID:31827005|PMID:32314272|PMID:32376792|PMID:32571458|PMID:33144514|PMID:33294374|PMID:33753480|PMID:33909043|PMID:34446925|PMID:34645488|PMID:34650302|PMID:6492094|PMID:7842019|PMID:9536098 8700856 Aars1 alanyl-tRNA synthetase 1 gene DOID:0061023 nonphotosensitive trichothiodystrophy 8 ISO RGD:1312500 D RGD:7240710 20220112 OMIM 8700856 Aars1 alanyl-tRNA synthetase 1 gene DOID:0061023 nonphotosensitive trichothiodystrophy 8 ISO RGD:1312500 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Trichothiodystrophy 8, nonphotosensitive PMID:25741868|PMID:28492532|PMID:33909043|PMID:6492094 8700856 Aars1 alanyl-tRNA synthetase 1 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1312500 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8700856 Aars1 alanyl-tRNA synthetase 1 gene DOID:0080451 developmental and epileptic encephalopathy 29 ISO RGD:1312500 D RGD:7240710 20180130 OMIM 8700856 Aars1 alanyl-tRNA synthetase 1 gene DOID:0080451 developmental and epileptic encephalopathy 29 ISO RGD:1312500 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 29 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 29 PMID:21494555|PMID:25741868|PMID:25817015|PMID:28492532|PMID:28493438|PMID:29653220|PMID:31791873|PMID:32571458|PMID:33294374|PMID:34446925 8700856 Aars1 alanyl-tRNA synthetase 1 gene DOID:0080523 adult-onset leukoencephalopathy with axonal spheroids and pigmented glia ISO RGD:1312500 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary diffuse leukoencephalopathy with spheroids PMID:31775912|PMID:6595937 8700856 Aars1 alanyl-tRNA synthetase 1 gene DOID:0110177 Charcot-Marie-Tooth disease axonal type 2N ISO RGD:1312500 D RGD:7240710 20180130 OMIM 8700856 Aars1 alanyl-tRNA synthetase 1 gene DOID:0110177 Charcot-Marie-Tooth disease axonal type 2N ISO RGD:1312500 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2N PMID:17576681|PMID:20045102|PMID:21208200|PMID:21494555|PMID:22009580|PMID:22206013|PMID:22573628|PMID:23806086|PMID:24088041|PMID:24627108|PMID:25741868|PMID:25817015|PMID:26032230|PMID:26257172|PMID:26752306|PMID:27993330|PMID:28492532|PMID:28493438|PMID:28902413|PMID:29653220|PMID:30124830|PMID:30214071|PMID:31827005|PMID:32314272|PMID:32376792|PMID:33294374|PMID:34446925|PMID:34645488|PMID:7842019|PMID:9536098 8700856 Aars1 alanyl-tRNA synthetase 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1312500 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:17576681|PMID:20045102|PMID:22009580|PMID:23806086|PMID:24088041|PMID:24627108|PMID:25025039|PMID:25741868|PMID:25783436|PMID:25817015|PMID:25904691|PMID:26032230|PMID:26257172|PMID:26752306|PMID:27549087|PMID:28492532|PMID:29653220|PMID:32314272|PMID:32376792|PMID:32403337|PMID:33294374|PMID:9536098 8700856 Aars1 alanyl-tRNA synthetase 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1312500 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia PMID:17576681|PMID:20045102|PMID:21208200|PMID:21494555|PMID:22009580|PMID:23806086|PMID:24088041|PMID:24627108|PMID:25025039|PMID:25741868|PMID:25817015|PMID:25904691|PMID:26032230|PMID:26257172|PMID:26752306|PMID:27549087|PMID:28492532|PMID:29653220|PMID:30124830|PMID:32314272|PMID:32376792|PMID:33294374|PMID:33753480|PMID:9536098 8700856 Aars1 alanyl-tRNA synthetase 1 gene DOID:11836 clubfoot ISO RGD:1312500 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Clubfoot PMID:25741868 8700856 Aars1 alanyl-tRNA synthetase 1 gene DOID:12377 spinal muscular atrophy ISO RGD:1312500 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy PMID:28492532 8700856 Aars1 alanyl-tRNA synthetase 1 gene DOID:574 peripheral nervous system disease ISO RGD:1312500 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:27993330|PMID:28492532|PMID:29653220|PMID:30124830|PMID:31827005 8700856 Aars1 alanyl-tRNA synthetase 1 gene DOID:630 genetic disease ISO RGD:1312500 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17576681|PMID:21494555|PMID:22009580|PMID:22206013|PMID:25025039|PMID:25741868|PMID:25817015|PMID:26257172|PMID:26752306|PMID:27993330|PMID:28492532|PMID:28493438|PMID:28902413|PMID:29653220|PMID:30124830|PMID:30373780|PMID:31827005|PMID:32376792|PMID:33294374|PMID:34446925|PMID:9536098 8700856 Aars1 alanyl-tRNA synthetase 1 gene DOID:630 genetic disease ISO RGD:1312500 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17576681|PMID:21494555|PMID:22009580|PMID:22206013|PMID:25025039|PMID:25741868|PMID:25817015|PMID:26257172|PMID:26752306|PMID:27993330|PMID:28492532|PMID:28493438|PMID:28902413|PMID:29653220|PMID:30124830|PMID:30373780|PMID:31827005|PMID:32376792|PMID:33144514|PMID:33294374|PMID:34446925|PMID:9536098 8700856 Aars1 alanyl-tRNA synthetase 1 gene DOID:870 neuropathy ISO RGD:1312500 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:27993330|PMID:28492532|PMID:29653220|PMID:30124830|PMID:31827005 8700856 Aars1 alanyl-tRNA synthetase 1 gene DOID:9008175 Hereditary Diffuse Leukoencephalopathy with Spheroids 2 ISO RGD:1312500 D RGD:7240710 20220112 OMIM 8700856 Aars1 alanyl-tRNA synthetase 1 gene DOID:9008175 Hereditary Diffuse Leukoencephalopathy with Spheroids 2 ISO RGD:1312500 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS, SWEDISH TYPE | ClinVar Annotator: match by term: Leukoencephalopathy, hereditary diffuse, with spheroids 2 PMID:25741868|PMID:28492532|PMID:31775912|PMID:6595937 8700856 Aars1 alanyl-tRNA synthetase 1 gene DOID:9008870 Chromosome 16q12 Duplication Syndrome ISO RGD:1312500 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome PMID:25741868 8700881 Nif3l1 NGG1 interacting factor 3 like 1 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1321170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 8700881 Nif3l1 NGG1 interacting factor 3 like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8700891 Nfkbia NFKB inhibitor alpha gene DOID:0050745 diffuse large B-cell lymphoma no_association ISO RGD:735440 D RGD:9068941 20200609 RGD SNA:polymorphism(s) PMID:15198731|REF_RGD_ID:2298905 8700891 Nfkbia NFKB inhibitor alpha gene DOID:0060071 pre-malignant neoplasm treatment ISO RGD:3171 D RGD:9068941 20200609 RGD associated with Liver Neoplasms PMID:20045035|REF_RGD_ID:10413878 8700891 Nfkbia NFKB inhibitor alpha gene DOID:0080600 COVID-19 ISO RGD:735440 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 8700891 Nfkbia NFKB inhibitor alpha gene DOID:0080815 childhood-onset asthma exacerbates ISO RGD:735440 D RGD:9068941 20210618 RGD associated with respiratory syncytial virus infectious disease;DNA:SNPs:protomer: (rs2233409) (human) PMID:23487427|REF_RGD_ID:40902982 8700891 Nfkbia NFKB inhibitor alpha gene DOID:0080998 acute necrotizing pancreatitis treatment ISO RGD:3171 D RGD:9068941 20200609 RGD PMID:19174608|REF_RGD_ID:10414072 8700891 Nfkbia NFKB inhibitor alpha gene DOID:0081079 ectodermal dysplasia and immunodeficiency 2 ISO RGD:735440 D RGD:7240710 20180130 OMIM 8700891 Nfkbia NFKB inhibitor alpha gene DOID:0081079 ectodermal dysplasia and immunodeficiency 2 ISO RGD:735440 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 | ClinVar Annotator: match by term: Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant PMID:12167702|PMID:14523047|PMID:15337789|PMID:17576681|PMID:17931563|PMID:18412279|PMID:22078572|PMID:23708964|PMID:23864385|PMID:23870671|PMID:24033266|PMID:25601653|PMID:25741868|PMID:26888281|PMID:28417298|PMID:28492532|PMID:28629746|PMID:29948576|PMID:31618753|PMID:32581362|PMID:32750042|PMID:35753512|PMID:9536098 8700891 Nfkbia NFKB inhibitor alpha gene DOID:10283 prostate cancer ISO RGD:735440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 8700891 Nfkbia NFKB inhibitor alpha gene DOID:10283 prostate cancer disease_progression ISO RGD:735440 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation PMID:23093296|REF_RGD_ID:13506767 8700891 Nfkbia NFKB inhibitor alpha gene DOID:10283 prostate cancer no_association ISO RGD:735440 D RGD:9068941 20200609 RGD DNA:SNPs: :rs2233406, rs3138053 (human) PMID:26834482|REF_RGD_ID:13506766 8700891 Nfkbia NFKB inhibitor alpha gene DOID:10283 prostate cancer no_association ISO RGD:735440 D RGD:9068941 20200609 RGD DNA:polymorphism:3' UTR PMID:26068031|REF_RGD_ID:11054182 8700891 Nfkbia NFKB inhibitor alpha gene DOID:10283 prostate cancer susceptibility ISO RGD:735440 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-826C>T, -881A>G (human) PMID:26068031|REF_RGD_ID:11054182 8700891 Nfkbia NFKB inhibitor alpha gene DOID:10763 hypertension treatment ISO RGD:3171 D RGD:9068941 20200609 RGD PMID:19246475|REF_RGD_ID:7495780 8700891 Nfkbia NFKB inhibitor alpha gene DOID:11383 cryptorchidism ISO RGD:10975 D RGD:9068941 20200609 RGD protein:decreased expression:testis PMID:22777528|REF_RGD_ID:11567213 8700891 Nfkbia NFKB inhibitor alpha gene DOID:11446 sciatic neuropathy treatment ISO RGD:3171 D RGD:9068941 20200609 RGD PMID:18938092|REF_RGD_ID:10413869 8700891 Nfkbia NFKB inhibitor alpha gene DOID:11650 bronchopulmonary dysplasia exacerbates ISO RGD:735440 D RGD:9068941 20210625 RGD DNA:SNPs:promoter: (rs2233406, rs2233409) (human) PMID:23487427|REF_RGD_ID:40902982 8700891 Nfkbia NFKB inhibitor alpha gene DOID:1184 nephrotic syndrome exacerbates ISO RGD:735440 D RGD:9068941 20210625 RGD protein:decreased expression:peripheral blood mononuclear cell (human) PMID:17441336|REF_RGD_ID:127285019 8700891 Nfkbia NFKB inhibitor alpha gene DOID:12351 alcoholic hepatitis treatment ISO RGD:3171 D RGD:9068941 20200609 RGD PMID:27939985|REF_RGD_ID:15036816 8700891 Nfkbia NFKB inhibitor alpha gene DOID:12894 Sjogren's syndrome ISO RGD:10975 D RGD:9068941 20210514 RGD PMID:20696914|REF_RGD_ID:126908016 8700891 Nfkbia NFKB inhibitor alpha gene DOID:12894 Sjogren's syndrome ISO RGD:10975 D RGD:9068941 20220825 MouseDO OMIM:270150 8700891 Nfkbia NFKB inhibitor alpha gene DOID:1324 lung cancer susceptibility ISO RGD:735440 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter:-826C>T,-881A>G (human) PMID:26870106|REF_RGD_ID:13793394 8700891 Nfkbia NFKB inhibitor alpha gene DOID:13250 diarrhea ameliorates ISO RGD:735440 D RGD:9068941 20210521 RGD human gene in a mouse model PMID:20008138|REF_RGD_ID:126925947 8700891 Nfkbia NFKB inhibitor alpha gene DOID:14115 toxic shock syndrome treatment ISO RGD:3171 D RGD:9068941 20210604 RGD PMID:11961112|REF_RGD_ID:126928137 8700891 Nfkbia NFKB inhibitor alpha gene DOID:1793 pancreatic cancer ISO RGD:735440 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15861417 8700891 Nfkbia NFKB inhibitor alpha gene DOID:1883 hepatitis C susceptibility ISO RGD:735440 D RGD:9068941 20201218 RGD DNA:deletion:promoter: (rs28362491) (human) PMID:30056167|REF_RGD_ID:40902826 8700891 Nfkbia NFKB inhibitor alpha gene DOID:1909 melanoma ISO RGD:735440 D RGD:9068941 20200609 RGD DNA:insertion(s) PMID:17492467|REF_RGD_ID:2298900 8700891 Nfkbia NFKB inhibitor alpha gene DOID:2043 hepatitis B susceptibility ISO RGD:735440 D RGD:9068941 20210604 RGD DNA:SNPs:promoter:-826C>T, -881A>G (rs2233406, rs3138053) (human) PMID:25223483|REF_RGD_ID:40902986 8700891 Nfkbia NFKB inhibitor alpha gene DOID:2316 brain ischemia ISO RGD:735440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18628779 8700891 Nfkbia NFKB inhibitor alpha gene DOID:2349 arteriosclerosis ISO RGD:735440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28569748 8700891 Nfkbia NFKB inhibitor alpha gene DOID:2526 prostate adenocarcinoma ISO RGD:10975 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation PMID:15712212|REF_RGD_ID:2298768 8700891 Nfkbia NFKB inhibitor alpha gene DOID:2526 prostate adenocarcinoma severity ISO RGD:735440 D RGD:9068941 20200609 RGD PMID:15073126|REF_RGD_ID:13506768 8700891 Nfkbia NFKB inhibitor alpha gene DOID:289 endometriosis ISO RGD:3171 D RGD:9068941 20200609 RGD PMID:23954358|REF_RGD_ID:10413877 8700891 Nfkbia NFKB inhibitor alpha gene DOID:2957 pulmonary tuberculosis ISO RGD:735440 D RGD:9068941 20210514 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:9379002|REF_RGD_ID:126908014 8700891 Nfkbia NFKB inhibitor alpha gene DOID:3068 glioblastoma treatment ISO RGD:735440 D RGD:9068941 20210625 RGD human cell line in a mouse model PMID:15692608|REF_RGD_ID:127285387 8700891 Nfkbia NFKB inhibitor alpha gene DOID:3310 atopic dermatitis ISO RGD:10975 D RGD:9068941 20220825 MouseDO OMIM:603165 8700891 Nfkbia NFKB inhibitor alpha gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:3171 D RGD:9068941 20200609 RGD PMID:21122797|REF_RGD_ID:10413868 8700891 Nfkbia NFKB inhibitor alpha gene DOID:4029 gastritis treatment ISO RGD:3171 D RGD:9068941 20200609 RGD associated with Helicobacter Infections PMID:25335260|REF_RGD_ID:10413874 8700891 Nfkbia NFKB inhibitor alpha gene DOID:552 pneumonia susceptibility ISO RGD:735440 D RGD:9068941 20210528 RGD associated with combined immunodeficiency;DNA:missense mutation:CDS:c.106T>G (p.S36A) (human) PMID:31683054|REF_RGD_ID:126925985 8700891 Nfkbia NFKB inhibitor alpha gene DOID:5844 myocardial infarction treatment ISO RGD:3171 D RGD:9068941 20200609 RGD PMID:19616538|REF_RGD_ID:10413879 8700891 Nfkbia NFKB inhibitor alpha gene DOID:612 primary immunodeficiency disease ISO RGD:735440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:17931563|PMID:25741868|PMID:28492532|PMID:28629746|PMID:32581362 8700891 Nfkbia NFKB inhibitor alpha gene DOID:630 genetic disease ISO RGD:735440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8700891 Nfkbia NFKB inhibitor alpha gene DOID:684 hepatocellular carcinoma ISO RGD:735440 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22022477 8700891 Nfkbia NFKB inhibitor alpha gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:735440 D RGD:9068941 20201211 RGD associated with Chronic Hepatitis B;DNA:SNPs,haplotype:3'utr,promoter: 826C>T,881A>G (rs2233406,rs3138053) (human) PMID:19797428|REF_RGD_ID:40400751 8700891 Nfkbia NFKB inhibitor alpha gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:735440 D RGD:9068941 20210604 RGD associated with hepatitis B;DNA:SNP:promoter:-826C>T (rs2233406) (human) PMID:25223483|REF_RGD_ID:40902986 8700891 Nfkbia NFKB inhibitor alpha gene DOID:8567 Hodgkin's lymphoma ISO RGD:735440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19223558 8700891 Nfkbia NFKB inhibitor alpha gene DOID:8567 Hodgkin's lymphoma ISO RGD:735440 D RGD:9068941 20200609 RGD PMID:10340377|REF_RGD_ID:2298893 8700891 Nfkbia NFKB inhibitor alpha gene DOID:8567 Hodgkin's lymphoma ISO RGD:735440 D RGD:9068941 20200609 RGD DNA:deletion:C-terminally truncated protein PMID:10556199|REF_RGD_ID:2298894 8700891 Nfkbia NFKB inhibitor alpha gene DOID:865 vasculitis ISO RGD:735440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28569748 8700891 Nfkbia NFKB inhibitor alpha gene DOID:8893 psoriasis ISO RGD:735440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20953190 8700891 Nfkbia NFKB inhibitor alpha gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:3171 D RGD:9068941 20200609 RGD PMID:21134362|REF_RGD_ID:10413867 8700891 Nfkbia NFKB inhibitor alpha gene DOID:9000099 Experimental Colitis treatment ISO RGD:3171 D RGD:9068941 20200609 RGD PMID:21642017|REF_RGD_ID:10413866 8700891 Nfkbia NFKB inhibitor alpha gene DOID:9000310 Lung Injury ISO RGD:3171 D RGD:9068941 20200609 RGD associated with Reperfusion Injury PMID:19321049|REF_RGD_ID:10413876 8700891 Nfkbia NFKB inhibitor alpha gene DOID:9000873 Adenoviridae Infections ameliorates ISO RGD:735440 D RGD:9068941 20210521 RGD human gene in a mouse model, associated with Animal Viral Hepatitis PMID:10692445|REF_RGD_ID:126925948 8700891 Nfkbia NFKB inhibitor alpha gene DOID:9000945 Ventilator-Induced Lung Injury ISO RGD:3171 D RGD:9068941 20200609 RGD PMID:20199666|REF_RGD_ID:10413863 8700891 Nfkbia NFKB inhibitor alpha gene DOID:9000965 Neoplasm Metastasis ISO RGD:735440 D RGD:9068941 20200609 RGD associated with prostate cancer;protein:increased serine phosphorylation PMID:23093296|REF_RGD_ID:13506767 8700891 Nfkbia NFKB inhibitor alpha gene DOID:9000989 Pneumococcal Infections susceptibility ISO RGD:735440 D RGD:9068941 20210618 RGD DNA:SNP: :(rs1050851) (human) PMID:29407193|REF_RGD_ID:127285391 8700891 Nfkbia NFKB inhibitor alpha gene DOID:9000989 Pneumococcal Infections susceptibility ISO RGD:735440 D RGD:9068941 20210625 RGD DNA:SNPs:enhancers: (rs3138053, rs2233406) (human) PMID:17463416|REF_RGD_ID:127285388 8700891 Nfkbia NFKB inhibitor alpha gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26806094 8700891 Nfkbia NFKB inhibitor alpha gene DOID:9001708 Hemorrhagic Shock treatment ISO RGD:3171 D RGD:9068941 20210618 RGD PMID:11557243|REF_RGD_ID:127285020 8700891 Nfkbia NFKB inhibitor alpha gene DOID:9002676 Cerebral Hemorrhage ISO RGD:3171 D RGD:9068941 20200609 RGD protein:increased phosphorylation:brain PMID:20150961|REF_RGD_ID:10413872 8700891 Nfkbia NFKB inhibitor alpha gene DOID:9003139 Cardiac Fibrosis treatment ISO RGD:3171 D RGD:9068941 20200609 RGD associated with Hypertension PMID:20231522|REF_RGD_ID:10413875 8700891 Nfkbia NFKB inhibitor alpha gene DOID:9004283 Transplant Rejection treatment ISO RGD:10975 D RGD:9068941 20200609 RGD PMID:19399405|REF_RGD_ID:10413870 8700891 Nfkbia NFKB inhibitor alpha gene DOID:9004283 Transplant Rejection treatment ISO RGD:3171 D RGD:9068941 20200709 RGD PMID:31828147|REF_RGD_ID:35316072 8700891 Nfkbia NFKB inhibitor alpha gene DOID:9004484 Sepsis treatment ISO RGD:3171 D RGD:9068941 20210604 RGD PMID:14662889|REF_RGD_ID:126928138 8700891 Nfkbia NFKB inhibitor alpha gene DOID:9004702 Pregnancy Complications susceptibility ISO RGD:735440 D RGD:9068941 20201218 RGD associated with Cytomegalovirus Infections;DNA:SNP:promoter: -94ins/delATTG (human) PMID:25792174|REF_RGD_ID:11342310 8700891 Nfkbia NFKB inhibitor alpha gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:735440 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8700891 Nfkbia NFKB inhibitor alpha gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3171 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:22483164|REF_RGD_ID:10413864 8700891 Nfkbia NFKB inhibitor alpha gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:3171 D RGD:9068941 20200609 RGD PMID:20188823|REF_RGD_ID:10413873 8700891 Nfkbia NFKB inhibitor alpha gene DOID:9005930 Endotoxemia exacerbates ISO RGD:10975 D RGD:9068941 20210514 RGD PMID:19098124|REF_RGD_ID:126908017 8700891 Nfkbia NFKB inhibitor alpha gene DOID:9005930 Endotoxemia treatment ISO RGD:10975 D RGD:9068941 20210604 RGD PMID:10229101|REF_RGD_ID:126928139 8700891 Nfkbia NFKB inhibitor alpha gene DOID:9006262 Cytomegalovirus Infections susceptibility ISO RGD:735440 D RGD:9068941 20201211 RGD associated with end stage renal disease;DNA:SNP:promoter: -94ins/delATTG (human) PMID:30431214|REF_RGD_ID:40902821 8700891 Nfkbia NFKB inhibitor alpha gene DOID:9006623 Murine Acquired Immunodeficiency Syndrome ISO RGD:10975 D RGD:9068941 20210625 RGD protein:decreased expression:lymph node (mouse) PMID:10429205|REF_RGD_ID:127285021 8700891 Nfkbia NFKB inhibitor alpha gene DOID:9006928 Viral Bronchiolitis susceptibility ISO RGD:735440 D RGD:9068941 20210625 RGD associated with respiratory syncytial virus infectious disease;DNA:SNP:promoter: (rs2233406) (human) PMID:23487427|REF_RGD_ID:40902982 8700891 Nfkbia NFKB inhibitor alpha gene DOID:9007102 Myocardial Ischemia ISO RGD:735440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8700891 Nfkbia NFKB inhibitor alpha gene DOID:9007151 Chronic recurrent multifocal osteomyelitis 2, with periostitis and pustulosis ISO RGD:735440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis 8700891 Nfkbia NFKB inhibitor alpha gene DOID:9007755 Intestinal Reperfusion Injury treatment ISO RGD:3171 D RGD:9068941 20230824 RGD PMID:22079846|REF_RGD_ID:401794136 8700891 Nfkbia NFKB inhibitor alpha gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:3171 D RGD:9068941 20200609 RGD PMID:19304943|REF_RGD_ID:10413871 8700891 Nfkbia NFKB inhibitor alpha gene DOID:9008163 Chronic Hepatitis B disease_progression ISO RGD:735440 D RGD:9068941 20210625 RGD DNA:enhancers: :(rs2233406, rs2233409) (human) PMID:29093318|REF_RGD_ID:127285389 8700891 Nfkbia NFKB inhibitor alpha gene DOID:9008824 Sarcopenia ISO RGD:3171 D RGD:9068941 20200609 RGD protein:increased expression:soleus PMID:15665035|REF_RGD_ID:10413861 8700891 Nfkbia NFKB inhibitor alpha gene DOID:9008939 Breast Neoplasms ISO RGD:735440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16298037 8700891 Nfkbia NFKB inhibitor alpha gene DOID:9538 multiple myeloma ISO RGD:735440 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:12377412|PMID:16540234|REF_RGD_ID:2298895|REF_RGD_ID:2298898 8700891 Nfkbia NFKB inhibitor alpha gene DOID:9588 encephalitis ISO RGD:3171 D RGD:9068941 20200609 RGD PMID:16006567|REF_RGD_ID:5147676 8700891 Nfkbia NFKB inhibitor alpha gene DOID:9675 pulmonary emphysema treatment ISO RGD:3171 D RGD:9068941 20200609 RGD PMID:20472710|REF_RGD_ID:4891488 8700891 Nfkbia NFKB inhibitor alpha gene DOID:9965 toxoplasmosis exacerbates ISO RGD:735440 D RGD:9068941 20210528 RGD human gene in a mouse model PMID:12626571|REF_RGD_ID:126925984 8700923 Kcnk7 potassium two pore domain channel subfamily K member 7 gene DOID:0061060 immunodeficiency 90 ISO RGD:1604643 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8700923 Kcnk7 potassium two pore domain channel subfamily K member 7 gene DOID:1059 intellectual disability ISO RGD:1604643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8700923 Kcnk7 potassium two pore domain channel subfamily K member 7 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1604643 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8700923 Kcnk7 potassium two pore domain channel subfamily K member 7 gene DOID:2746 glycogen storage disease V ISO RGD:1604643 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8700923 Kcnk7 potassium two pore domain channel subfamily K member 7 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1604643 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532|PMID:28600438 8700930 Myh4 myosin heavy chain 4 gene DOID:0080719 congenital myopathy 6 ISO RGD:1323747 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia PMID:28492532 8700930 Myh4 myosin heavy chain 4 gene DOID:11446 sciatic neuropathy treatment ISO RGD:3139 D RGD:9068941 20220915 RGD PMID:14973145|REF_RGD_ID:9686059 8700930 Myh4 myosin heavy chain 4 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:3139 D RGD:9068941 20220915 RGD associated with Heart Failure;protein:decreased expression:diaphragm PMID:25060722|REF_RGD_ID:9686065 8700998 Tex44 testis expressed 44 gene DOID:0060476 Perlman syndrome ISO RGD:1606945 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 8700998 Tex44 testis expressed 44 gene DOID:0110991 Joubert syndrome 22 ISO RGD:1606945 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 8700998 Tex44 testis expressed 44 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1606945 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:9373798 8701002 Arpc1b actin related protein 2/3 complex subunit 1B gene DOID:0050866 oral squamous cell carcinoma severity ISO RGD:736395 D RGD:9068941 20200609 RGD protein:increased expression:oral mucosa (human) PMID:26138391|REF_RGD_ID:11046268 8701002 Arpc1b actin related protein 2/3 complex subunit 1B gene DOID:0050908 myelodysplastic syndrome treatment ISO RGD:736395 D RGD:9068941 20200609 RGD PMID:22608605|REF_RGD_ID:11046272 8701002 Arpc1b actin related protein 2/3 complex subunit 1B gene DOID:0111962 combined immunodeficiency ISO RGD:736395 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency PMID:25741868|PMID:27965109|PMID:28368018|PMID:28492532|PMID:29127144|PMID:32499645 8701002 Arpc1b actin related protein 2/3 complex subunit 1B gene DOID:0112004 immunodeficiency 71 ISO RGD:736395 D RGD:7240710 20190315 OMIM 8701002 Arpc1b actin related protein 2/3 complex subunit 1B gene DOID:0112004 immunodeficiency 71 ISO RGD:736395 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: ARPC1B-related condition | ClinVar Annotator: match by term: Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease PMID:16019263|PMID:16199547|PMID:17576681|PMID:25741868|PMID:27965109|PMID:28368018|PMID:28492532|PMID:29127144|PMID:30254128|PMID:30771411|PMID:31031743|PMID:32499645|PMID:33679784|PMID:9536098 8701002 Arpc1b actin related protein 2/3 complex subunit 1B gene DOID:10534 stomach cancer ISO RGD:736395 D RGD:9068941 20200609 RGD mRNA:decreased expression:gastric epithelium (human) PMID:15279900|REF_RGD_ID:11046270 8701002 Arpc1b actin related protein 2/3 complex subunit 1B gene DOID:2213 hemorrhagic disease ISO RGD:736395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:28492532 8701002 Arpc1b actin related protein 2/3 complex subunit 1B gene DOID:2513 basal cell carcinoma ISO RGD:736395 D RGD:9068941 20240606 CTD CTD Direct Evidence: marker/mechanism PMID:36428691 8701002 Arpc1b actin related protein 2/3 complex subunit 1B gene DOID:4029 gastritis ISO RGD:736395 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter: (human) PMID:23292007|REF_RGD_ID:11046273 8701002 Arpc1b actin related protein 2/3 complex subunit 1B gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736395 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8701002 Arpc1b actin related protein 2/3 complex subunit 1B gene DOID:5419 schizophrenia ISO RGD:736395 D RGD:9068941 20200609 RGD protein:decreased expression:prefrontal cortex (human) PMID:15098003|REF_RGD_ID:11571619 8701002 Arpc1b actin related protein 2/3 complex subunit 1B gene DOID:612 primary immunodeficiency disease ISO RGD:736395 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 8701002 Arpc1b actin related protein 2/3 complex subunit 1B gene DOID:630 genetic disease ISO RGD:736395 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8701002 Arpc1b actin related protein 2/3 complex subunit 1B gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736395 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8701022 Yme1l1 YME1 like 1 ATPase gene DOID:0111436 optic atrophy 11 ISO RGD:733459 D RGD:7240710 20190315 OMIM 8701022 Yme1l1 YME1 like 1 ATPase gene DOID:0111436 optic atrophy 11 ISO RGD:733459 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Optic atrophy 11 | ClinVar Annotator: match by term: YME1L1-related condition PMID:25741868|PMID:27495975|PMID:28492532 8701022 Yme1l1 YME1 like 1 ATPase gene DOID:10907 microcephaly ISO RGD:733459 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 8701022 Yme1l1 YME1 like 1 ATPase gene DOID:12930 dilated cardiomyopathy ISO RGD:733460 D RGD:9068941 20220825 MouseDO 8701022 Yme1l1 YME1 like 1 ATPase gene DOID:2843 long QT syndrome ISO RGD:733459 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 8701022 Yme1l1 YME1 like 1 ATPase gene DOID:8501 fundus dystrophy ISO RGD:733459 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532 8701041 Ntf3 neurotrophin 3 gene DOID:0050989 episodic ataxia type 1 ISO RGD:732368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 1 PMID:28492532 8701041 Ntf3 neurotrophin 3 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:732368 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 8701041 Ntf3 neurotrophin 3 gene DOID:0110106 atrial heart septal defect 1 ISO RGD:732369 D RGD:9068941 20220825 MouseDO OMIM:108800 8701041 Ntf3 neurotrophin 3 gene DOID:10487 Hirschsprung's disease ISO RGD:732368 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:25741868 8701041 Ntf3 neurotrophin 3 gene DOID:10652 Alzheimer's disease ISO RGD:732368 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.G63E (human) PMID:9502217|REF_RGD_ID:1358754 8701041 Ntf3 neurotrophin 3 gene DOID:10908 hydrocephalus ISO RGD:732368 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid (human) PMID:11580868|REF_RGD_ID:1358755 8701041 Ntf3 neurotrophin 3 gene DOID:12849 autistic disorder ISO RGD:732368 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16289943 8701041 Ntf3 neurotrophin 3 gene DOID:13406 pulmonary sarcoidosis ISO RGD:732368 D RGD:9068941 20200609 RGD PMID:16315781|REF_RGD_ID:4891110 8701041 Ntf3 neurotrophin 3 gene DOID:13406 pulmonary sarcoidosis disease_progression ISO RGD:732368 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:21059230|REF_RGD_ID:5144061 8701041 Ntf3 neurotrophin 3 gene DOID:14250 Down syndrome ISO RGD:732368 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16289943 8701041 Ntf3 neurotrophin 3 gene DOID:1574 alcohol use disorder ISO RGD:619728 D RGD:9068941 20231221 RGD mRNA,protein:decreased expression:hippocampus, plasma (rat) PMID:30277635|REF_RGD_ID:401938665 8701041 Ntf3 neurotrophin 3 gene DOID:1574 alcohol use disorder ISO RGD:619728 D RGD:9068941 20240215 RGD protein:increased expression:brain PMID:15307153|REF_RGD_ID:401965482 8701041 Ntf3 neurotrophin 3 gene DOID:1574 alcohol use disorder ISO RGD:732368 D RGD:9068941 20231221 RGD protein:decreased expression:plasma (human) PMID:30277635|REF_RGD_ID:401938665 8701041 Ntf3 neurotrophin 3 gene DOID:1824 status epilepticus ISO RGD:619728 D RGD:9068941 20210205 RGD RNA:decreased expression: hippocampus PMID:22019057|REF_RGD_ID:41404707 8701041 Ntf3 neurotrophin 3 gene DOID:1824 status epilepticus ISO RGD:732368 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8635431 8701041 Ntf3 neurotrophin 3 gene DOID:2841 asthma ISO RGD:732368 D RGD:9068941 20200609 RGD PMID:11737043|REF_RGD_ID:4891123 8701041 Ntf3 neurotrophin 3 gene DOID:2841 asthma ISO RGD:732369 D RGD:9068941 20200609 RGD protein:increased expression:lung, serum PMID:17497413|REF_RGD_ID:4891068 8701041 Ntf3 neurotrophin 3 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:732368 D RGD:9068941 20200609 RGD mRNA:decreased expression:bronchus PMID:15843147|REF_RGD_ID:4891120 8701041 Ntf3 neurotrophin 3 gene DOID:5154 borna disease ISO RGD:619728 D RGD:9068941 20240222 RGD mRNA:decreased expression:hippocampus PMID:11175319|REF_RGD_ID:2325644 8701041 Ntf3 neurotrophin 3 gene DOID:5419 schizophrenia ISO RGD:732368 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18572319 8701041 Ntf3 neurotrophin 3 gene DOID:6419 tetralogy of Fallot ISO RGD:732369 D RGD:9068941 20220825 MouseDO OMIM:187500 8701041 Ntf3 neurotrophin 3 gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:732368 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16023256 8701041 Ntf3 neurotrophin 3 gene DOID:9000039 Spinal Cord Injuries ISO RGD:732368 D RGD:9068941 20200609 RGD PMID:16022868|REF_RGD_ID:4891112 8701041 Ntf3 neurotrophin 3 gene DOID:9002211 Hyperalgesia ISO RGD:732368 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15659614 8701041 Ntf3 neurotrophin 3 gene DOID:9002955 Nerve Degeneration ISO RGD:732368 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8921280|PMID:8978711 8701041 Ntf3 neurotrophin 3 gene DOID:9004354 Alcohol-Related Disorders ISO RGD:619728 D RGD:9068941 20240229 RGD protein:increased expression:hippocampus,cerebellar vermis PMID:18652597|REF_RGD_ID:401976540 8701041 Ntf3 neurotrophin 3 gene DOID:9004538 Hearing Loss ISO RGD:732368 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18024279 8701041 Ntf3 neurotrophin 3 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:732368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8701041 Ntf3 neurotrophin 3 gene DOID:9743 diabetic neuropathy ISO RGD:732368 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11779407 8701050 Dhrsx dehydrogenase/reductase X-linked gene DOID:12849 autistic disorder ISO RGD:1344855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8701050 Dhrsx dehydrogenase/reductase X-linked gene DOID:9009263 Congenital disorder of glycosylation, type 1DD ISO RGD:1344855 D RGD:7240710 20241218 OMIM 8701050 Dhrsx dehydrogenase/reductase X-linked gene DOID:9009263 Congenital disorder of glycosylation, type 1DD ISO RGD:1344855 D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 1DD 8701061 LOC102011427 chromosome unknown open reading frame, human C19orf12 gene DOID:0050952 spastic ataxia ISO RGD:1319491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 8701061 LOC102011427 chromosome unknown open reading frame, human C19orf12 gene DOID:0110734 neurodegeneration with brain iron accumulation ISO RGD:1319491 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation PMID:21981780|PMID:22584950|PMID:23166001|PMID:23269600|PMID:23278385|PMID:23436634|PMID:23494994|PMID:23857908|PMID:24033266|PMID:24209434|PMID:24361204|PMID:25558065|PMID:25592411|PMID:25741868|PMID:27801611|PMID:28347615|PMID:28492532|PMID:28641177|PMID:28832565|PMID:30088953|PMID:30392167|PMID:31087512|PMID:31518459|PMID:31804703|PMID:31970231|PMID:32552793|PMID:32581362|PMID:33607528|PMID:34284285 8701061 LOC102011427 chromosome unknown open reading frame, human C19orf12 gene DOID:0110738 neurodegeneration with brain iron accumulation 4 ISO RGD:1319491 D RGD:7240710 20180130 OMIM 8701061 LOC102011427 chromosome unknown open reading frame, human C19orf12 gene DOID:0110738 neurodegeneration with brain iron accumulation 4 ISO RGD:1319491 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: C19orf12-related condition | ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 4 PMID:17576681|PMID:18414213|PMID:20039086|PMID:21981780|PMID:22508347|PMID:22584950|PMID:23166001|PMID:23269600|PMID:23278385|PMID:23436634|PMID:23494994|PMID:23857908|PMID:24033266|PMID:24209434|PMID:25592411|PMID:25741868|PMID:26187298|PMID:26539891|PMID:27112773|PMID:27801611|PMID:28347615|PMID:28492532|PMID:28641177|PMID:29295770|PMID:29389947|PMID:29915382|PMID:30088953|PMID:30369941|PMID:30392167|PMID:31087512|PMID:31105013|PMID:31518459|PMID:31804703|PMID:31970231|PMID:32581362|PMID:33134513|PMID:33607528|PMID:34272103|PMID:34284285|PMID:39825153|PMID:9536098 8701061 LOC102011427 chromosome unknown open reading frame, human C19orf12 gene DOID:0110795 hereditary spastic paraplegia 43 ISO RGD:1319491 D RGD:7240710 20180130 OMIM 8701061 LOC102011427 chromosome unknown open reading frame, human C19orf12 gene DOID:0110795 hereditary spastic paraplegia 43 ISO RGD:1319491 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 43 | ClinVar Annotator: match by term: Spastic paraplegia 43, autosomal recessive PMID:17576681|PMID:18414213|PMID:20039086|PMID:21981780|PMID:22584950|PMID:23166001|PMID:23269600|PMID:23278385|PMID:23436634|PMID:23494994|PMID:23857908|PMID:24033266|PMID:24209434|PMID:24361204|PMID:25558065|PMID:25592411|PMID:25741868|PMID:26187298|PMID:27112773|PMID:27801611|PMID:28347615|PMID:28492532|PMID:28641177|PMID:28832565|PMID:29915382|PMID:30088953|PMID:30369941|PMID:30392167|PMID:31087512|PMID:31105013|PMID:31804703|PMID:31970231|PMID:32552793|PMID:32581362|PMID:33607528|PMID:33688131|PMID:34272103|PMID:34284285|PMID:35188090|PMID:39825153|PMID:9536098 8701061 LOC102011427 chromosome unknown open reading frame, human C19orf12 gene DOID:0110810 hereditary spastic paraplegia 5A ISO RGD:1319491 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A PMID:21981780|PMID:25741868|PMID:28492532|PMID:39825153 8701061 LOC102011427 chromosome unknown open reading frame, human C19orf12 gene DOID:0111253 neurofibromatosis 1 ISO RGD:1319491 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:22584950|PMID:23857908|PMID:25741868|PMID:31518459 8701061 LOC102011427 chromosome unknown open reading frame, human C19orf12 gene DOID:1289 neurodegenerative disease ISO RGD:1319491 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: neurodegenerative disorder PMID:21981780|PMID:24361204|PMID:25558065|PMID:28492532|PMID:28832565|PMID:31087512|PMID:32552793 8701061 LOC102011427 chromosome unknown open reading frame, human C19orf12 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1319491 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:21981780|PMID:23269600|PMID:24361204|PMID:25558065|PMID:25741868|PMID:27112773|PMID:28492532|PMID:28832565|PMID:31087512|PMID:31105013|PMID:32552793|PMID:39825153 8701061 LOC102011427 chromosome unknown open reading frame, human C19orf12 gene DOID:543 dystonia ISO RGD:1319491 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:21981780|PMID:23269600|PMID:23494994|PMID:23857908|PMID:24033266|PMID:25592411|PMID:25741868|PMID:28492532|PMID:30088953|PMID:39825153 8701061 LOC102011427 chromosome unknown open reading frame, human C19orf12 gene DOID:630 genetic disease ISO RGD:1319491 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:31087512 8701061 LOC102011427 chromosome unknown open reading frame, human C19orf12 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1319491 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21397856 8701061 LOC102011427 chromosome unknown open reading frame, human C19orf12 gene DOID:9008086 Developmental Disabilities ISO RGD:1319491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:26539891 8701075 Ccdc92 coiled-coil domain containing 92 gene DOID:9000528 Coronary Disease ISO RGD:1604596 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 8701075 Ccdc92 coiled-coil domain containing 92 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1604596 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 8701098 Usb1 U6 snRNA biogenesis phosphodiesterase 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1606230 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8701098 Usb1 U6 snRNA biogenesis phosphodiesterase 1 gene DOID:0060551 poikiloderma with neutropenia ISO RGD:1606230 D RGD:7240710 20190315 OMIM 8701098 Usb1 U6 snRNA biogenesis phosphodiesterase 1 gene DOID:0060551 poikiloderma with neutropenia ISO RGD:1606230 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Poikiloderma with neutropenia | ClinVar Annotator: match by term: USB1-related condition PMID:11737690|PMID:16199547|PMID:17576681|PMID:18925663|PMID:20004881|PMID:20503306|PMID:20618321|PMID:20817924|PMID:21271650|PMID:21872685|PMID:21967010|PMID:23190533|PMID:25044170|PMID:25741868|PMID:27247962|PMID:27612988|PMID:28353165|PMID:28492532|PMID:29072891|PMID:29770900|PMID:29982244|PMID:31522452|PMID:32369273|PMID:32897901|PMID:34179048|PMID:9536098 8701098 Usb1 U6 snRNA biogenesis phosphodiesterase 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1606230 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8701098 Usb1 U6 snRNA biogenesis phosphodiesterase 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1606230 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8701098 Usb1 U6 snRNA biogenesis phosphodiesterase 1 gene DOID:630 genetic disease ISO RGD:1606230 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8701098 Usb1 U6 snRNA biogenesis phosphodiesterase 1 gene DOID:9008870 Chromosome 16q12 Duplication Syndrome ISO RGD:1606230 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome PMID:25741868 8701106 Scimp SLP adaptor and CSK interacting membrane protein gene DOID:0080600 COVID-19 ISO RGD:1604451 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8701106 Scimp SLP adaptor and CSK interacting membrane protein gene DOID:11934 head and neck cancer ISO RGD:1604451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Head and neck cancer PMID:32266149 8701115 Soat2 sterol O-acyltransferase 2 gene DOID:10211 cholelithiasis susceptibility ISO RGD:730964 D RGD:9068941 20200609 RGD PMID:11100118|REF_RGD_ID:1556516 8701115 Soat2 sterol O-acyltransferase 2 gene DOID:10608 celiac disease ISO RGD:730963 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 8701115 Soat2 sterol O-acyltransferase 2 gene DOID:1184 nephrotic syndrome ISO RGD:628865 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:11967026|REF_RGD_ID:730139 8701115 Soat2 sterol O-acyltransferase 2 gene DOID:2349 arteriosclerosis susceptibility ISO RGD:730964 D RGD:9068941 20200609 RGD PMID:17431188|REF_RGD_ID:1625282 8701115 Soat2 sterol O-acyltransferase 2 gene DOID:3393 coronary artery disease susceptibility ISO RGD:730963 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.E41G, p.T734I, IVS4-57_-58ins48bp (human) PMID:16195894|REF_RGD_ID:1601112 8701115 Soat2 sterol O-acyltransferase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:730963 D RGD:9068941 20200609 RGD PMID:16274362|REF_RGD_ID:1581190 8701115 Soat2 sterol O-acyltransferase 2 gene DOID:783 end stage renal disease ISO RGD:628865 D RGD:9068941 20200609 RGD PMID:12217884|REF_RGD_ID:625687 8701115 Soat2 sterol O-acyltransferase 2 gene DOID:9000808 Hypercholesterolemia susceptibility ISO RGD:730964 D RGD:9068941 20200609 RGD PMID:11100118|REF_RGD_ID:1556516 8701115 Soat2 sterol O-acyltransferase 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:628865 D RGD:9068941 20200609 RGD PMID:15242859|REF_RGD_ID:1581191 8701115 Soat2 sterol O-acyltransferase 2 gene DOID:9006646 Metabolic Syndrome susceptibility ISO RGD:730963 D RGD:9068941 20200609 RGD DNA:SNPs PMID:14557872|REF_RGD_ID:1581921 8701161 Hnmt histamine N-methyltransferase gene DOID:0060485 Mowat-Wilson syndrome ISO RGD:733644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mowat-Wilson syndrome 8701161 Hnmt histamine N-methyltransferase gene DOID:0060500 drug allergy ISO RGD:733644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20485159 8701161 Hnmt histamine N-methyltransferase gene DOID:0081214 autosomal recessive intellectual developmental disorder 51 ISO RGD:733644 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 51 PMID:25741868|PMID:26206890|PMID:28492532 8701161 Hnmt histamine N-methyltransferase gene DOID:0081214 autosomal recessive intellectual developmental disorder 51 susceptibility ISO RGD:733644 D RGD:7240710 20250312 OMIM 8701161 Hnmt histamine N-methyltransferase gene DOID:11870 Pick's disease ISO RGD:733644 D RGD:9068941 20200609 RGD PMID:11880199|REF_RGD_ID:5509779 8701161 Hnmt histamine N-methyltransferase gene DOID:12858 Huntington's disease ISO RGD:733644 D RGD:9068941 20200609 RGD PMID:21106039|REF_RGD_ID:5509774 8701161 Hnmt histamine N-methyltransferase gene DOID:14250 Down syndrome ISO RGD:733644 D RGD:9068941 20200609 RGD PMID:11880199|REF_RGD_ID:5509779 8701161 Hnmt histamine N-methyltransferase gene DOID:14330 Parkinson's disease ISO RGD:733644 D RGD:9068941 20200609 RGD PMID:17985251|REF_RGD_ID:5509778 8701161 Hnmt histamine N-methyltransferase gene DOID:14330 Parkinson's disease no_association ISO RGD:733644 D RGD:9068941 20200609 RGD PMID:19773194|REF_RGD_ID:5509775 8701161 Hnmt histamine N-methyltransferase gene DOID:1555 urticaria ISO RGD:733644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20485159 8701161 Hnmt histamine N-methyltransferase gene DOID:2841 asthma ISO RGD:733644 D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: Asthma, susceptibility to | ClinVar Annotator: match by term: HNMT-related condition PMID:10752634|PMID:10803682|PMID:16205835|PMID:25741868|PMID:28492532 8701161 Hnmt histamine N-methyltransferase gene DOID:2841 asthma no_association ISO RGD:733644 D RGD:9068941 20200609 RGD PMID:15693910|PMID:16205835|PMID:17651147|REF_RGD_ID:5128885|REF_RGD_ID:5128887|REF_RGD_ID:5128888 8701161 Hnmt histamine N-methyltransferase gene DOID:2841 asthma susceptibility ISO RGD:733644 D RGD:7240710 20250312 OMIM 8701161 Hnmt histamine N-methyltransferase gene DOID:3310 atopic dermatitis ISO RGD:733644 D RGD:9068941 20200609 RGD PMID:19025430|REF_RGD_ID:5128889 8701161 Hnmt histamine N-methyltransferase gene DOID:3454 brain infarction severity ISO RGD:71049 D RGD:9068941 20200609 RGD PMID:16330002|PMID:21131122|REF_RGD_ID:5509772|REF_RGD_ID:5509773 8701161 Hnmt histamine N-methyltransferase gene DOID:4483 rhinitis ISO RGD:733644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17651147 8701161 Hnmt histamine N-methyltransferase gene DOID:4483 rhinitis no_association ISO RGD:733644 D RGD:9068941 20200609 RGD PMID:17651147|REF_RGD_ID:5128885 8701161 Hnmt histamine N-methyltransferase gene DOID:4990 essential tremor ISO RGD:733644 D RGD:9068941 20200609 RGD PMID:18543121|REF_RGD_ID:5509776 8701161 Hnmt histamine N-methyltransferase gene DOID:4990 essential tremor no_association ISO RGD:733644 D RGD:9068941 20200609 RGD PMID:19773194|REF_RGD_ID:5509775 8701161 Hnmt histamine N-methyltransferase gene DOID:5419 schizophrenia no_association ISO RGD:733644 D RGD:9068941 20200609 RGD PMID:10898922|REF_RGD_ID:5509780 8701161 Hnmt histamine N-methyltransferase gene DOID:8577 ulcerative colitis ISO RGD:733644 D RGD:9068941 20200609 RGD PMID:18340362|REF_RGD_ID:5509777 8701161 Hnmt histamine N-methyltransferase gene DOID:9000772 Bronchial Hyperreactivity no_association ISO RGD:733644 D RGD:9068941 20200609 RGD PMID:15693910|REF_RGD_ID:5128888 8701178 Lrrn4cl LRRN4 C-terminal like gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1603349 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 8701178 Lrrn4cl LRRN4 C-terminal like gene DOID:0080575 Larsen-like syndrome B3GAT3 type ISO RGD:1603349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type PMID:28492532 8701178 Lrrn4cl LRRN4 C-terminal like gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1603349 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8701178 Lrrn4cl LRRN4 C-terminal like gene DOID:1059 intellectual disability ISO RGD:1603349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8701184 Tom1l2 target of myb1 like 2 membrane trafficking protein gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:1315512 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube syndrome PMID:20188345|PMID:28492532 8701184 Tom1l2 target of myb1 like 2 membrane trafficking protein gene DOID:0060768 Smith-Magenis syndrome ISO RGD:1315512 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Smith-Magenis syndrome PMID:25087610 8701184 Tom1l2 target of myb1 like 2 membrane trafficking protein gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1315512 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 8701184 Tom1l2 target of myb1 like 2 membrane trafficking protein gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1315512 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 8701184 Tom1l2 target of myb1 like 2 membrane trafficking protein gene DOID:0110980 Joubert syndrome 1 ISO RGD:1315512 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 8701184 Tom1l2 target of myb1 like 2 membrane trafficking protein gene DOID:12849 autistic disorder ISO RGD:1315512 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8701212 Tmem200c transmembrane protein 200C gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:3302319 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 8701212 Tmem200c transmembrane protein 200C gene DOID:1059 intellectual disability ISO RGD:3302319 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8701229 Capn7 calpain 7 gene DOID:0060417 3p deletion syndrome ISO RGD:1312532 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 8701261 Septin11 septin 11 gene DOID:0050950 autosomal recessive cerebellar ataxia ISO RGD:1349067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia PMID:25741868|PMID:31673878 8701261 Septin11 septin 11 gene DOID:14749 methylmalonic acidemia ISO RGD:1349067 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16823967 8701279 Sec62 SEC62 homolog, preprotein translocation factor gene DOID:0070014 autosomal dominant dyskeratosis congenita 1 ISO RGD:1318878 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 PMID:28492532 8701279 Sec62 SEC62 homolog, preprotein translocation factor gene DOID:0070562 Fanconi-Bickel syndrome ISO RGD:1318878 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 8701332 Csdc2 cold shock domain containing C2 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1603657 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8701332 Csdc2 cold shock domain containing C2 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1603657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 8701340 Tspan5 tetraspanin 5 gene DOID:10283 prostate cancer ISO RGD:1602132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8701367 Vps37d VPS37D subunit of ESCRT-I gene DOID:0060041 autism spectrum disorder ISO RGD:1349183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 8701367 Vps37d VPS37D subunit of ESCRT-I gene DOID:12849 autistic disorder ISO RGD:1349183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8701367 Vps37d VPS37D subunit of ESCRT-I gene DOID:1928 Williams-Beuren syndrome ISO RGD:1349183 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 8701367 Vps37d VPS37D subunit of ESCRT-I gene DOID:2513 basal cell carcinoma ISO RGD:1349183 D RGD:9068941 20240606 CTD CTD Direct Evidence: marker/mechanism PMID:36428691 8701367 Vps37d VPS37D subunit of ESCRT-I gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1349183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8701367 Vps37d VPS37D subunit of ESCRT-I gene DOID:5419 schizophrenia ISO RGD:1349183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8701367 Vps37d VPS37D subunit of ESCRT-I gene DOID:8445 intestinal volvulus ISO RGD:1349183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 8701367 Vps37d VPS37D subunit of ESCRT-I gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8701367 Vps37d VPS37D subunit of ESCRT-I gene DOID:9008419 Volvulus Of Midgut ISO RGD:1349183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 8701375 Tasor2 transcription activation suppressor family member 2 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1343867 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 8701375 Tasor2 transcription activation suppressor family member 2 gene DOID:5419 schizophrenia ISO RGD:1343867 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8701410 Trappc5 trafficking protein particle complex subunit 5 gene DOID:0080490 mucolipidosis type IV ISO RGD:1344244 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 8701410 Trappc5 trafficking protein particle complex subunit 5 gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1344244 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 8701428 Tex12 testis expressed 12 gene DOID:0070614 chromosome 11 partial duplication syndrome ISO RGD:1351277 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8701428 Tex12 testis expressed 12 gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:1351277 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:19830588|PMID:20059486|PMID:25741868|PMID:28492532|PMID:31332730|PMID:32651154|PMID:33234470|PMID:33822819|PMID:7563095 8701428 Tex12 testis expressed 12 gene DOID:1059 intellectual disability ISO RGD:1351277 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8701428 Tex12 testis expressed 12 gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:1351277 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 8701449 Adam9 ADAM metallopeptidase domain 9 gene DOID:0050572 cone-rod dystrophy ISO RGD:1321127 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod dystrophy PMID:19409519|PMID:25741868|PMID:28492532 8701449 Adam9 ADAM metallopeptidase domain 9 gene DOID:0080600 COVID-19 ISO RGD:1321127 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8701449 Adam9 ADAM metallopeptidase domain 9 gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:1321127 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562 8701449 Adam9 ADAM metallopeptidase domain 9 gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:1321127 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532 8701449 Adam9 ADAM metallopeptidase domain 9 gene DOID:0111013 cone-rod dystrophy 3 ISO RGD:12354473 D RGD:9068941 20210604 OMIA Retinal atrophy - Cone-rod dystrophy 3 PMID:20691256|PMID:20806078|PMID:22065099 8701449 Adam9 ADAM metallopeptidase domain 9 gene DOID:0111020 cone-rod dystrophy 9 ISO RGD:1321127 D RGD:7240710 20180130 OMIM 8701449 Adam9 ADAM metallopeptidase domain 9 gene DOID:0111020 cone-rod dystrophy 9 ISO RGD:1321127 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ADAM9-related condition | ClinVar Annotator: match by term: Cone-rod dystrophy 9 PMID:11581183|PMID:17576681|PMID:19409519|PMID:25091951|PMID:25741868|PMID:28492532|PMID:9536098 8701449 Adam9 ADAM metallopeptidase domain 9 gene DOID:10584 retinitis pigmentosa ISO RGD:1321127 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:26261414|PMID:28492532|PMID:31456290 8701449 Adam9 ADAM metallopeptidase domain 9 gene DOID:10652 Alzheimer's disease ISO RGD:621473 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:24792732|REF_RGD_ID:13703037 8701449 Adam9 ADAM metallopeptidase domain 9 gene DOID:1793 pancreatic cancer ISO RGD:1321127 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas, epithelial cell PMID:17465204|REF_RGD_ID:2325247 8701449 Adam9 ADAM metallopeptidase domain 9 gene DOID:1824 status epilepticus ISO RGD:621473 D RGD:9068941 20200609 RGD mRNA:increased expression:dentate gyrus PMID:15950787|REF_RGD_ID:1559151 8701449 Adam9 ADAM metallopeptidase domain 9 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1321127 D RGD:9068941 20231019 RGD protein:increased expression:pulmonary artery PMID:36522710|REF_RGD_ID:401850545 8701449 Adam9 ADAM metallopeptidase domain 9 gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:1321127 D RGD:9068941 20200609 RGD protein:altered localization:cytoplasm PMID:14997207|REF_RGD_ID:2325249 8701449 Adam9 ADAM metallopeptidase domain 9 gene DOID:607 paraplegia ISO RGD:1321127 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 8701449 Adam9 ADAM metallopeptidase domain 9 gene DOID:630 genetic disease ISO RGD:1321127 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8701449 Adam9 ADAM metallopeptidase domain 9 gene DOID:8501 fundus dystrophy ISO RGD:1321127 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532 8701449 Adam9 ADAM metallopeptidase domain 9 gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:1321127 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:19473694|REF_RGD_ID:2325246 8701449 Adam9 ADAM metallopeptidase domain 9 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1321127 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17018608 8701449 Adam9 ADAM metallopeptidase domain 9 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1321127 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:19473694|REF_RGD_ID:2325246 8701483 Neo1 neogenin 1 gene DOID:0080600 COVID-19 ISO RGD:733424 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8701483 Neo1 neogenin 1 gene DOID:0110225 Brugada syndrome 8 ISO RGD:733424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 8 PMID:28492532 8701483 Neo1 neogenin 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:733424 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 8701483 Neo1 neogenin 1 gene DOID:2717 Bloom syndrome ISO RGD:733424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8701483 Neo1 neogenin 1 gene DOID:3320 Tay-Sachs disease ISO RGD:733424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:1833974|PMID:28492532|PMID:8490625 8701483 Neo1 neogenin 1 gene DOID:5419 schizophrenia ISO RGD:733424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8701483 Neo1 neogenin 1 gene DOID:9002560 Penetrating Eye Injuries ISO RGD:619837 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:21887516|REF_RGD_ID:9850142 8701483 Neo1 neogenin 1 gene DOID:9008091 Optic Nerve Injuries ISO RGD:619837 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:21887516|REF_RGD_ID:9850142 8701483 Neo1 neogenin 1 gene DOID:9256 colorectal cancer ISO RGD:733424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8701517 LOC102030009 cytochrome c oxidase subunit 7B2, mitochondrial gene DOID:684 hepatocellular carcinoma ISO RGD:1353874 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8701528 Rlbp1 retinaldehyde binding protein 1 gene DOID:0050534 congenital stationary night blindness ISO RGD:1320101 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness PMID:25741868|PMID:28492532|PMID:36909829 8701528 Rlbp1 retinaldehyde binding protein 1 gene DOID:0050683 Bothnia retinal dystrophy ISO RGD:1320101 D RGD:7240710 20180130 OMIM 8701528 Rlbp1 retinaldehyde binding protein 1 gene DOID:0050683 Bothnia retinal dystrophy ISO RGD:1320101 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Bothnia retinal dystrophy | ClinVar Annotator: match by term: VASTERBOTTEN DYSTROPHY PMID:10102298|PMID:10102299|PMID:11301032|PMID:11449319|PMID:11453974|PMID:11868161|PMID:12536144|PMID:14718298|PMID:15234312|PMID:15953459|PMID:16199547|PMID:18344446|PMID:19846785|PMID:20238024|PMID:21447491|PMID:22171637|PMID:22183382|PMID:22551409|PMID:22559933|PMID:23105016|PMID:2392416|PMID:23929416|PMID:25307992|PMID:25326637|PMID:25356976|PMID:25429852|PMID:25741868|PMID:26355662|PMID:28041643|PMID:28492532|PMID:28559085|PMID:31456290|PMID:31872526|PMID:32188692|PMID:32552793|PMID:33188265|PMID:33851411|PMID:34410188|PMID:34426522|PMID:9326942 8701528 Rlbp1 retinaldehyde binding protein 1 gene DOID:0080122 Alpers-Huttenlocher syndrome ISO RGD:1320101 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy PMID:11301032|PMID:21447491|PMID:2392416|PMID:25429852|PMID:28492532 8701528 Rlbp1 retinaldehyde binding protein 1 gene DOID:0111015 Newfoundland cone-rod dystrophy ISO RGD:1320101 D RGD:7240710 20180130 OMIM 8701528 Rlbp1 retinaldehyde binding protein 1 gene DOID:0111015 Newfoundland cone-rod dystrophy ISO RGD:1320101 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Newfoundland cone-rod dystrophy PMID:10102298|PMID:10102299|PMID:11301032|PMID:11449319|PMID:11868161|PMID:12536144|PMID:15953459|PMID:16199547|PMID:17576681|PMID:18344446|PMID:21447491|PMID:22171637|PMID:22551409|PMID:2392416|PMID:23929416|PMID:24265693|PMID:25356976|PMID:25429852|PMID:25741868|PMID:28041643|PMID:28492532|PMID:28559085|PMID:31872526|PMID:32188692|PMID:33851411|PMID:34410188|PMID:34795310|PMID:9536098 8701528 Rlbp1 retinaldehyde binding protein 1 gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1320101 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:17407155|PMID:28492532 8701528 Rlbp1 retinaldehyde binding protein 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1320101 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10102298|PMID:10102299|PMID:11449319|PMID:11453974|PMID:12536144|PMID:14718298|PMID:15953459|PMID:17065479|PMID:18344446|PMID:19339744|PMID:19846785|PMID:20238024|PMID:22164218|PMID:22171637|PMID:22183382|PMID:22551409|PMID:23105016|PMID:23929416|PMID:24265693|PMID:25307992|PMID:25326637|PMID:25429852|PMID:25741868|PMID:26355662|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30718709|PMID:31456290|PMID:32188692|PMID:33188265|PMID:33851411|PMID:34410188|PMID:34795310|PMID:36247817|PMID:9326942 8701528 Rlbp1 retinaldehyde binding protein 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1320101 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10102298|PMID:10102299|PMID:11449319|PMID:11453974|PMID:12536144|PMID:14718298|PMID:15953459|PMID:17065479|PMID:18344446|PMID:19339744|PMID:19846785|PMID:20238024|PMID:22164218|PMID:22171637|PMID:22183382|PMID:22551409|PMID:23105016|PMID:23929416|PMID:24265693|PMID:25307992|PMID:25326637|PMID:25429852|PMID:25741868|PMID:26355662|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30718709|PMID:31456290|PMID:32188692|PMID:32552793|PMID:33188265|PMID:33851411|PMID:34410188|PMID:34426522|PMID:34795310|PMID:36247817|PMID:9326942 8701528 Rlbp1 retinaldehyde binding protein 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1320101 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10102298|PMID:10102299|PMID:11449319|PMID:11453974|PMID:12536144|PMID:14718298|PMID:15953459|PMID:17065479|PMID:17576681|PMID:18344446|PMID:19339744|PMID:19846785|PMID:20238024|PMID:21447491|PMID:22164218|PMID:22171637|PMID:22183382|PMID:22551409|PMID:23105016|PMID:23929416|PMID:24265693|PMID:25307992|PMID:25326637|PMID:25429852|PMID:25741868|PMID:26355662|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30718709|PMID:31456290|PMID:32188692|PMID:32552793|PMID:33188265|PMID:33851411|PMID:34410188|PMID:34426522|PMID:34795310|PMID:36247817|PMID:9326942|PMID:9536098 8701528 Rlbp1 retinaldehyde binding protein 1 gene DOID:11105 fundus albipunctatus ISO RGD:1320101 D RGD:7240710 20180130 OMIM 8701528 Rlbp1 retinaldehyde binding protein 1 gene DOID:11105 fundus albipunctatus ISO RGD:1320101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pigmentary retinal dystrophy | ClinVar Annotator: match by term: Retinitis punctata albescens PMID:10102298|PMID:10102299|PMID:11449319|PMID:11453974|PMID:11868161|PMID:12536144|PMID:15234312|PMID:15953459|PMID:18344446|PMID:19846785|PMID:20238024|PMID:22171637|PMID:22183382|PMID:22551409|PMID:22559933|PMID:23105016|PMID:25307992|PMID:25326637|PMID:25429852|PMID:25741868|PMID:26355662|PMID:28041643|PMID:28492532|PMID:32188692|PMID:33188265|PMID:9326942 8701528 Rlbp1 retinaldehyde binding protein 1 gene DOID:11105 fundus albipunctatus ISO RGD:1320101 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Pigmentary retinal dystrophy | ClinVar Annotator: match by term: Retinitis punctata albescens | ClinVar Annotator: match by term: Retinitis punctata albescens, autosomal dominant PMID:10102298|PMID:10102299|PMID:11301032|PMID:11449319|PMID:11453974|PMID:11868161|PMID:12536144|PMID:14718298|PMID:15234312|PMID:15953459|PMID:17576681|PMID:18344446|PMID:19846785|PMID:20238024|PMID:21447491|PMID:22171637|PMID:22183382|PMID:22551409|PMID:22559933|PMID:23105016|PMID:2392416|PMID:24265693|PMID:25307992|PMID:25326637|PMID:25356976|PMID:25429852|PMID:25741868|PMID:26355662|PMID:28041643|PMID:28492532|PMID:31456290|PMID:31872526|PMID:32188692|PMID:33188265|PMID:33851411|PMID:34795310|PMID:9326942|PMID:9536098 8701528 Rlbp1 retinaldehyde binding protein 1 gene DOID:11105 fundus albipunctatus ISO RGD:1320101 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Fundus albipunctatus | ClinVar Annotator: match by term: Pigmentary retinal dystrophy | ClinVar Annotator: match by term: Retinitis punctata albescens PMID:10102298|PMID:10102299|PMID:11301032|PMID:11449319|PMID:11453974|PMID:11868161|PMID:12536144|PMID:14718298|PMID:15234312|PMID:15953459|PMID:16199547|PMID:17576681|PMID:18344446|PMID:19846785|PMID:20238024|PMID:21447491|PMID:22171637|PMID:22183382|PMID:22551409|PMID:23105016|PMID:2392416|PMID:24265693|PMID:25307992|PMID:25326637|PMID:25356976|PMID:25429852|PMID:25741868|PMID:26355662|PMID:28041643|PMID:28492532|PMID:31456290|PMID:31872526|PMID:32188692|PMID:32552793|PMID:33188265|PMID:33851411|PMID:34426522|PMID:34795310|PMID:9326942|PMID:9536098 8701528 Rlbp1 retinaldehyde binding protein 1 gene DOID:2717 Bloom syndrome ISO RGD:1320101 D RGD:8554872 20240716 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:17407155|PMID:28492532 8701528 Rlbp1 retinaldehyde binding protein 1 gene DOID:4448 macular degeneration ISO RGD:1320101 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30742112 8701528 Rlbp1 retinaldehyde binding protein 1 gene DOID:5723 optic atrophy ISO RGD:1320101 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:25741868|PMID:28492532 8701528 Rlbp1 retinaldehyde binding protein 1 gene DOID:630 genetic disease ISO RGD:1320101 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8701528 Rlbp1 retinaldehyde binding protein 1 gene DOID:8499 night blindness ISO RGD:1320101 D RGD:9068941 20200609 RGD Fundus albipunctatus, OMIM:180090 PMID:11453974|REF_RGD_ID:1599620 8701528 Rlbp1 retinaldehyde binding protein 1 gene DOID:8501 fundus dystrophy ISO RGD:1320101 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10102298|PMID:10102299|PMID:11301032|PMID:11449319|PMID:12536144|PMID:15234312|PMID:15953459|PMID:17065479|PMID:18344446|PMID:19846785|PMID:20238024|PMID:21447491|PMID:22164218|PMID:22171637|PMID:22183382|PMID:22551409|PMID:22559933|PMID:2392416|PMID:23929416|PMID:24265693|PMID:24339724|PMID:25326637|PMID:25429852|PMID:25741868|PMID:26103963|PMID:26355662|PMID:28041643|PMID:28492532|PMID:31456290|PMID:32188692|PMID:32552793|PMID:33851411|PMID:34426522|PMID:34795310|PMID:36259723 8701528 Rlbp1 retinaldehyde binding protein 1 gene DOID:9002525 Hereditary Eye Diseases ISO RGD:1320101 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16968212 8701528 Rlbp1 retinaldehyde binding protein 1 gene DOID:9008296 Eye Abnormalities ISO RGD:1320101 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:25326637|PMID:25741868|PMID:26355662|PMID:28492532|PMID:32188692|PMID:32552793|PMID:34426522 8701528 Rlbp1 retinaldehyde binding protein 1 gene DOID:9256 colorectal cancer ISO RGD:1320101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8701550 St7l suppression of tumorigenicity 7 like gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1342887 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 8701550 St7l suppression of tumorigenicity 7 like gene DOID:9000351 Diarrhea 9 ISO RGD:1342887 D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: WNT2B-related condition PMID:25741868|PMID:28492532 8701572 Mydgf myeloid derived growth factor gene DOID:0080600 COVID-19 ISO RGD:1345552 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8701572 Mydgf myeloid derived growth factor gene DOID:9000058 Keloid ISO RGD:1345552 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 8701593 Itga2b integrin subunit alpha 2b gene DOID:0060573 von Willebrand's disease 1 severity ISO RGD:1349627 D RGD:9068941 20200609 RGD DNA:haplotype:cds: PMID:15226188|REF_RGD_ID:10766468 8701593 Itga2b integrin subunit alpha 2b gene DOID:0060574 von Willebrand's disease 2 no_association ISO RGD:1349627 D RGD:9068941 20200609 RGD DNA:haplotype:: PMID:16409463|REF_RGD_ID:10766469 8701593 Itga2b integrin subunit alpha 2b gene DOID:0060691 platelet-type bleeding disorder 16 ISO RGD:1349627 D RGD:7240710 20180130 OMIM 8701593 Itga2b integrin subunit alpha 2b gene DOID:0060691 platelet-type bleeding disorder 16 ISO RGD:1349627 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Platelet-type bleeding disorder 16 PMID:10607701|PMID:11091187|PMID:12181054|PMID:1317725|PMID:14687991|PMID:15099289|PMID:1638023|PMID:16722529|PMID:18065693|PMID:19691478|PMID:19805198|PMID:20020534|PMID:20081061|PMID:21113249|PMID:21454453|PMID:21917754|PMID:22102273|PMID:22190468|PMID:25373348|PMID:25539746|PMID:25728920|PMID:25741868|PMID:25749862|PMID:25944497|PMID:27469266|PMID:27607598|PMID:27696190|PMID:28492532|PMID:28748566|PMID:29090484|PMID:29675921|PMID:30138987|PMID:31064749|PMID:31119735|PMID:31691484|PMID:32139434|PMID:32237906|PMID:32581362|PMID:33276370|PMID:34267460|PMID:34355501|PMID:36519321|PMID:9215749|PMID:9473221|PMID:9722314|PMID:9763559|PMID:9834222 8701593 Itga2b integrin subunit alpha 2b gene DOID:1588 thrombocytopenia ISO RGD:1349627 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:1638023|PMID:18065693|PMID:19805198|PMID:20081061|PMID:21454453|PMID:22102273|PMID:25728920|PMID:25741868|PMID:25749862|PMID:25944497|PMID:27469266|PMID:28492532|PMID:29090484|PMID:31064749|PMID:31119735|PMID:31691484|PMID:32581362|PMID:33276370|PMID:9215749|PMID:9834222 8701593 Itga2b integrin subunit alpha 2b gene DOID:2213 hemorrhagic disease ISO RGD:1349627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 8701593 Itga2b integrin subunit alpha 2b gene DOID:2219 Glanzmann's thrombasthenia ISO RGD:1349627 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 2 | ClinVar Annotator: match by term: Glanzmann thrombasthenia | ClinVar Annotator: match by term: Glanzmann thrombasthenia type A | ClinVar Annotator: match by term: THROMBASTHENIA OF GLANZMANN AND NAEGELI | ClinVar Annotator: match by term: Thrombasthenia PMID:10607701|PMID:11091187|PMID:11798398|PMID:12008952|PMID:12083483|PMID:12181054|PMID:12424194|PMID:12487785|PMID:12506038|PMID:1317725|PMID:14687991|PMID:15099289|PMID:15219201|PMID:15717695|PMID:15748238|PMID:15886807|PMID:16199547|PMID:16359514|PMID:1638023|PMID:16463284|PMID:16722529|PMID:17488698|PMID:17576681|PMID:18065693|PMID:18422845|PMID:18788610|PMID:18791937|PMID:18976939|PMID:19172520|PMID:19175981|PMID:1926040|PMID:19339519|PMID:19691478|PMID:19734576|PMID:19805198|PMID:19821948|PMID:20020534|PMID:20081061|PMID:2014236|PMID:20492470|PMID:20819594|PMID:21029361|PMID:21113249|PMID:21454453|PMID:21487445|PMID:21557682|PMID:21917754|PMID:22102273|PMID:22190468|PMID:22250950|PMID:22513797|PMID:22738334|PMID:23305224|PMID:24418945|PMID:25275492|PMID:25326637|PMID:25373348|PMID:25539746|PMID:25728920|PMID:25741868|PMID:25749862|PMID:25827233|PMID:25944497|PMID:26096001|PMID:27469266|PMID:27607598|PMID:27696190|PMID:28232155|PMID:28492532|PMID:28748566|PMID:28808266|PMID:28888044|PMID:28983057|PMID:29090484|PMID:29385657|PMID:29675921|PMID:29884513|PMID:30138987|PMID:30792900|PMID:31064749|PMID:31119735|PMID:31691484|PMID:32089034|PMID:32139434|PMID:32237906|PMID:32581362|PMID:32757236|PMID:33276370|PMID:33928629|PMID:34267460|PMID:34355501|PMID:36519321|PMID:37647632|PMID:7508443|PMID:7620188|PMID:7706461|PMID:8282784|PMID:8704171|PMID:8883261|PMID:9215749|PMID:9473221|PMID:9536098|PMID:9722314|PMID:9734640|PMID:9763559|PMID:9834222|PMID:9920835 8701593 Itga2b integrin subunit alpha 2b gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:1349627 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung (human) PMID:19635508|REF_RGD_ID:5490168 8701593 Itga2b integrin subunit alpha 2b gene DOID:3410 carotid artery thrombosis ISO RGD:1349627 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1605806 8701593 Itga2b integrin subunit alpha 2b gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1349627 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 PMID:38922859 8701593 Itga2b integrin subunit alpha 2b gene DOID:630 genetic disease ISO RGD:1349627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8701593 Itga2b integrin subunit alpha 2b gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1349627 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8701593 Itga2b integrin subunit alpha 2b gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1349627 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8701593 Itga2b integrin subunit alpha 2b gene DOID:9002319 Glanzmann Thrombasthenia 1 ISO RGD:1349627 D RGD:7240710 20220427 OMIM 8701593 Itga2b integrin subunit alpha 2b gene DOID:9002319 Glanzmann Thrombasthenia 1 ISO RGD:1349627 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Glanzmann thrombasthenia 1 PMID:10607701|PMID:11798398|PMID:12008952|PMID:12083483|PMID:12181054|PMID:12424194|PMID:1317725|PMID:15099289|PMID:16199547|PMID:16359514|PMID:16722529|PMID:17576681|PMID:19172520|PMID:1926040|PMID:19691478|PMID:20020534|PMID:2014236|PMID:21113249|PMID:21454453|PMID:21487445|PMID:21557682|PMID:21917754|PMID:22190468|PMID:22513797|PMID:24418945|PMID:25275492|PMID:25326637|PMID:25373348|PMID:25539746|PMID:25728920|PMID:25741868|PMID:25827233|PMID:27469266|PMID:27607598|PMID:27696190|PMID:28232155|PMID:28492532|PMID:28808266|PMID:28983057|PMID:29090484|PMID:29385657|PMID:29675921|PMID:30138987|PMID:31064749|PMID:31119735|PMID:31691484|PMID:32089034|PMID:32139434|PMID:32237906|PMID:32581362|PMID:34267460|PMID:34355501|PMID:37647632|PMID:7508443|PMID:7620188|PMID:7706461|PMID:8282784|PMID:8704171|PMID:8883261|PMID:9215749|PMID:9473221|PMID:9536098|PMID:9722314|PMID:9734640|PMID:9763559|PMID:9920835 8701593 Itga2b integrin subunit alpha 2b gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1349627 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9445356 8701593 Itga2b integrin subunit alpha 2b gene DOID:9003340 Neonatal Alloimmune Thrombocytopenia ISO RGD:1349627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BAK PLATELET-SPECIFIC ANTIGEN PMID:2014236|PMID:25741868|PMID:28492532 8701593 Itga2b integrin subunit alpha 2b gene DOID:9004009 Reperfusion Injury ISO RGD:1596428 D RGD:9068941 20200609 RGD PMID:11705748|REF_RGD_ID:2316361 8701593 Itga2b integrin subunit alpha 2b gene DOID:9005876 Thrombocytopenic Purpura ISO RGD:1557725 D RGD:9068941 20200609 RGD PMID:11493456|REF_RGD_ID:2316362 8701593 Itga2b integrin subunit alpha 2b gene DOID:9005930 Endotoxemia ISO RGD:1596428 D RGD:9068941 20200609 RGD PMID:15280099|REF_RGD_ID:2316360 8701593 Itga2b integrin subunit alpha 2b gene DOID:9007096 Stroke ISO RGD:1349627 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9445356 8701593 Itga2b integrin subunit alpha 2b gene DOID:9007096 Stroke ISO RGD:1596428 D RGD:9068941 20200609 RGD PMID:15678115|REF_RGD_ID:2316358 8701629 Alg11 ALG11 alpha-1,2-mannosyltransferase gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1604899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 8701629 Alg11 ALG11 alpha-1,2-mannosyltransferase gene DOID:0080567 congenital disorder of glycosylation Ip ISO RGD:1604899 D RGD:7240710 20180130 OMIM 8701629 Alg11 ALG11 alpha-1,2-mannosyltransferase gene DOID:0080567 congenital disorder of glycosylation Ip ISO RGD:1604899 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: ALG11-congenital disorder of glycosylation | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1P PMID:10441329|PMID:16283883|PMID:20080937|PMID:22213132|PMID:25741868|PMID:28122681|PMID:28492532|PMID:30676690 8701629 Alg11 ALG11 alpha-1,2-mannosyltransferase gene DOID:10316 pneumoconiosis ISO RGD:1604899 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35506645 8701629 Alg11 ALG11 alpha-1,2-mannosyltransferase gene DOID:1059 intellectual disability ISO RGD:1604899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8701629 Alg11 ALG11 alpha-1,2-mannosyltransferase gene DOID:1826 epilepsy ISO RGD:1604899 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 8701629 Alg11 ALG11 alpha-1,2-mannosyltransferase gene DOID:5212 congenital disorder of glycosylation ISO RGD:1604899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:25741868|PMID:28492532 8701629 Alg11 ALG11 alpha-1,2-mannosyltransferase gene DOID:630 genetic disease ISO RGD:1604899 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22213132|PMID:25741868|PMID:28492532|PMID:28649519 8701629 Alg11 ALG11 alpha-1,2-mannosyltransferase gene DOID:893 Wilson disease ISO RGD:1604899 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:10441329|PMID:16283883|PMID:22955616|PMID:23382538|PMID:24094725|PMID:24878384|PMID:25741868|PMID:27535533|PMID:28492532|PMID:30087448|PMID:30655162|PMID:30676690|PMID:34404389 8701675 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1344342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:14534157|PMID:17290276|PMID:19822871|PMID:20805988|PMID:23166088|PMID:23360469|PMID:23692823|PMID:24811917|PMID:25052858|PMID:25921748|PMID:25951140|PMID:25959266|PMID:26030193|PMID:26758118|PMID:27441201|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059 8701675 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1344342 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:14534157|PMID:17290276|PMID:19822871|PMID:20805988|PMID:23166088|PMID:23360469|PMID:23453664|PMID:23692823|PMID:23959892|PMID:24811917|PMID:25052858|PMID:25607374|PMID:25921748|PMID:25951140|PMID:25959266|PMID:26030193|PMID:26758118|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059 8701675 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1344342 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Autosomal dominant epilepsy | ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:14534157|PMID:17290276|PMID:19822871|PMID:20805988|PMID:23166088|PMID:23360469|PMID:23692823|PMID:24811917|PMID:25921748|PMID:25951140|PMID:25959266|PMID:26030193|PMID:26758118|PMID:27779742|PMID:28492532|PMID:30866059 8701675 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:0070022 autosomal recessive dyskeratosis congenita 5 ISO RGD:1344342 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 PMID:14534157|PMID:19822871|PMID:23453664|PMID:23692823|PMID:23959892|PMID:25607374|PMID:27779742|PMID:28492532 8701675 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:0070068 autosomal dominant intellectual developmental disorder 38 ISO RGD:1344342 D RGD:7240710 20180130 OMIM 8701675 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:0070068 autosomal dominant intellectual developmental disorder 38 ISO RGD:1344342 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 38 PMID:18414213|PMID:23033978|PMID:23647072|PMID:24697219|PMID:25326326|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26682508|PMID:26795593|PMID:27441201|PMID:27652284|PMID:28135719|PMID:28378778|PMID:28492532|PMID:28628100|PMID:28911200|PMID:3066688|PMID:31893083|PMID:32160274|PMID:32196822|PMID:32429945|PMID:33004838|PMID:33057194|PMID:33644862|PMID:35982159|PMID:39825153 8701675 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1344342 D RGD:7240710 20180130 OMIM 8701675 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1344342 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33 | ClinVar Annotator: match by term: EEF1A2-related developmental and degenerative epileptic-dyskinetic encephalopathy | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:14534157|PMID:16199547|PMID:17290276|PMID:17576681|PMID:18414213|PMID:19822871|PMID:20805988|PMID:23033978|PMID:23166088|PMID:23360469|PMID:23647072|PMID:23692823|PMID:24697219|PMID:24811917|PMID:25326326|PMID:25326635|PMID:25741868|PMID:25921748|PMID:25951140|PMID:25959266|PMID:26030193|PMID:26467025|PMID:26633542|PMID:26682508|PMID:26740508|PMID:26758118|PMID:26795593|PMID:27441201|PMID:27652284|PMID:27779742|PMID:28135719|PMID:28378778|PMID:28492532|PMID:28628100|PMID:28911200|PMID:30109124|PMID:30377530|PMID:3066688|PMID:30866059|PMID:31893083|PMID:32160274|PMID:32196822|PMID:32429945|PMID:32725632|PMID:33004838|PMID:33057194|PMID:33644862|PMID:34489640|PMID:35982159|PMID:38355961|PMID:39825153|PMID:9536098 8701675 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1344342 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:14534157|PMID:17290276|PMID:19822871|PMID:20805988|PMID:23166088|PMID:23360469|PMID:23692823|PMID:24811917|PMID:25921748|PMID:25951140|PMID:25959266|PMID:26030193|PMID:26758118|PMID:27779742|PMID:28492532|PMID:30866059 8701675 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:0110798 hereditary spastic paraplegia 46 ISO RGD:1344342 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 46 PMID:25741868|PMID:28492532 8701675 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1344342 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:14534157|PMID:17290276|PMID:19822871|PMID:20805988|PMID:23166088|PMID:23360469|PMID:23453664|PMID:23692823|PMID:23959892|PMID:24811917|PMID:25052858|PMID:25607374|PMID:25921748|PMID:25951140|PMID:25959266|PMID:26030193|PMID:26758118|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059 8701675 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:1059 intellectual disability ISO RGD:1344342 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:18414213|PMID:23033978|PMID:23647072|PMID:25326326|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26795593|PMID:27441201|PMID:27652284|PMID:28378778|PMID:28492532|PMID:28628100|PMID:28911200|PMID:33004838 8701675 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:10652 Alzheimer's disease ISO RGD:1344342 D RGD:9068941 20200609 RGD protein:increased expression:CA1field of hippocampus: PMID:8750861|REF_RGD_ID:10401216 8701675 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:12849 autistic disorder ISO RGD:1344342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 8701675 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1344342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 8701675 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1344342 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:14534157|PMID:19822871|PMID:23360469|PMID:23692823|PMID:24811917|PMID:25921748|PMID:27779742|PMID:28492532|PMID:30866059 8701675 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:1826 epilepsy ISO RGD:1344342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:25741868|PMID:26467025|PMID:28492532 8701675 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:1826 epilepsy ISO RGD:1344342 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Seizure 8701675 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:2394 ovarian cancer ISO RGD:1344342 D RGD:9068941 20200609 RGD DNA, mRNA:amplification, increased expression:ovary PMID:12053177|REF_RGD_ID:2303420 8701675 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:630 genetic disease ISO RGD:1344342 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23033978|PMID:23647072|PMID:24697219|PMID:25326326|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26633542|PMID:26682508|PMID:26795593|PMID:27441201|PMID:27652284|PMID:28378778|PMID:28492532|PMID:28628100|PMID:28911200|PMID:30109124|PMID:3066688|PMID:32196822|PMID:32429945|PMID:34489640|PMID:38355961|PMID:7491491|PMID:9253415 8701675 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:1344342 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 8701675 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:9002955 Nerve Degeneration ISO RGD:3781 D RGD:9068941 20200609 RGD protein:increased expression:CA1&CA3 fields of hippocampus: PMID:8750861|REF_RGD_ID:10401216 8701675 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344342 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8701675 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:9008582 Developmental Disease ISO RGD:1344342 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8701675 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:9008668 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 3 ISO RGD:1344342 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3 PMID:14534157|PMID:19822871|PMID:23453664|PMID:23692823|PMID:23959892|PMID:25607374|PMID:27779742|PMID:28492532 8701687 Itfg1 integrin alpha FG-GAP repeat containing 1 gene DOID:0111041 glycogen storage disease IXB ISO RGD:735534 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXb PMID:28492532 8701729 Cep19 centrosomal protein 19 gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:1602846 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 8701729 Cep19 centrosomal protein 19 gene DOID:12849 autistic disorder ISO RGD:1602846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8701729 Cep19 centrosomal protein 19 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1602846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:29127258 8701729 Cep19 centrosomal protein 19 gene DOID:5419 schizophrenia ISO RGD:1602846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8701729 Cep19 centrosomal protein 19 gene DOID:5723 optic atrophy ISO RGD:1602846 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:25741868|PMID:28492532 8701729 Cep19 centrosomal protein 19 gene DOID:9004698 Morbid Obesity and Spermatogenic Failure ISO RGD:1602846 D RGD:7240710 20180130 OMIM 8701729 Cep19 centrosomal protein 19 gene DOID:9004698 Morbid Obesity and Spermatogenic Failure ISO RGD:1602846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CEP19-related condition | ClinVar Annotator: match by term: Morbid obesity and spermatogenic failure PMID:24268657|PMID:25741868|PMID:28492532 8701808 Vps16 VPS16 core subunit of CORVET and HOPS complexes gene DOID:0060937 dystonia 30 ISO RGD:1345721 D RGD:7240710 20210505 OMIM 8701808 Vps16 VPS16 core subunit of CORVET and HOPS complexes gene DOID:0060937 dystonia 30 ISO RGD:1345721 D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: Dystonia 30 | ClinVar Annotator: match by term: VPS16-associated disorder | ClinVar Annotator: match by term: VPS16-related condition PMID:16199547|PMID:25741868|PMID:27174565|PMID:28492532|PMID:32808683 8701808 Vps16 VPS16 core subunit of CORVET and HOPS complexes gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1345721 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 8701808 Vps16 VPS16 core subunit of CORVET and HOPS complexes gene DOID:1227 neutropenia ISO RGD:1345721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neutropenia 8701808 Vps16 VPS16 core subunit of CORVET and HOPS complexes gene DOID:12849 autistic disorder ISO RGD:1345721 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Autism 8701808 Vps16 VPS16 core subunit of CORVET and HOPS complexes gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1345721 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 8701808 Vps16 VPS16 core subunit of CORVET and HOPS complexes gene DOID:574 peripheral nervous system disease ISO RGD:1345721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy 8701808 Vps16 VPS16 core subunit of CORVET and HOPS complexes gene DOID:630 genetic disease ISO RGD:1345721 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8701808 Vps16 VPS16 core subunit of CORVET and HOPS complexes gene DOID:870 neuropathy ISO RGD:1345721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuropathy 8701808 Vps16 VPS16 core subunit of CORVET and HOPS complexes gene DOID:9002720 Splenomegaly ISO RGD:1345721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Enlarged Spleen 8701837 Cpn1 carboxypeptidase N subunit 1 gene DOID:0111583 carboxypeptidase N deficiency ISO RGD:734334 D RGD:7240710 20180130 OMIM 8701837 Cpn1 carboxypeptidase N subunit 1 gene DOID:0111583 carboxypeptidase N deficiency ISO RGD:734334 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Anaphylotoxin inactivator deficiency | ClinVar Annotator: match by term: Deficiency of carboxypeptidase B PMID:12560874|PMID:24033266|PMID:25741868|PMID:38445235|PMID:7437116 8701851 Osbpl3 oxysterol binding protein like 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1350234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8701912 Il4i1 interleukin 4 induced 1 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1312498 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 8701912 Il4i1 interleukin 4 induced 1 gene DOID:9004610 Acute Lung Injury ISO RGD:1312498 D RGD:9068941 20230608 CTD CTD Direct Evidence: marker/mechanism PMID:36537648 8701912 Il4i1 interleukin 4 induced 1 gene DOID:9005372 Inflammation ISO RGD:1312498 D RGD:9068941 20230608 CTD CTD Direct Evidence: marker/mechanism PMID:36537648 8701912 Il4i1 interleukin 4 induced 1 gene DOID:9008334 Striatonigral Degeneration, Infantile ISO RGD:1312498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BILATERAL STRIATAL NECROSIS, INFANTILE | ClinVar Annotator: match by term: Infantile bilateral striatal necrosis | ClinVar Annotator: match by term: NUP62-related condition PMID:16786527|PMID:25741868|PMID:28492532 8701935 Cspg4 chondroitin sulfate proteoglycan 4 gene DOID:0060395 chromosome 15q24 deletion syndrome ISO RGD:730838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Witteveen-kolk syndrome PMID:18755302|PMID:19557438|PMID:21681106 8701935 Cspg4 chondroitin sulfate proteoglycan 4 gene DOID:0080519 PAPA syndrome ISO RGD:730838 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: PAPA SYNDROME PMID:28492532 8701935 Cspg4 chondroitin sulfate proteoglycan 4 gene DOID:1210 optic neuritis ISO RGD:730839 D RGD:9068941 20200609 RGD associated with Encephalomyelitis, Autoimmune, Experimental;protein:altered expression:optic II nerve PMID:20151287|REF_RGD_ID:5686855 8701935 Cspg4 chondroitin sulfate proteoglycan 4 gene DOID:12849 autistic disorder ISO RGD:730839 D RGD:9068941 20200609 RGD protein:increased expression:cingulate cortex PMID:21575186|REF_RGD_ID:5686862 8701935 Cspg4 chondroitin sulfate proteoglycan 4 gene DOID:1826 epilepsy ISO RGD:730838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8701935 Cspg4 chondroitin sulfate proteoglycan 4 gene DOID:2316 brain ischemia ISO RGD:619942 D RGD:9068941 20200609 RGD PMID:21864831|REF_RGD_ID:5686850 8701935 Cspg4 chondroitin sulfate proteoglycan 4 gene DOID:2378 relapsing-remitting multiple sclerosis ISO RGD:730838 D RGD:9068941 20200609 RGD PMID:10976643|REF_RGD_ID:5686865 8701935 Cspg4 chondroitin sulfate proteoglycan 4 gene DOID:2513 basal cell carcinoma ISO RGD:730838 D RGD:9068941 20240606 CTD CTD Direct Evidence: marker/mechanism PMID:36428691 8701935 Cspg4 chondroitin sulfate proteoglycan 4 gene DOID:2717 Bloom syndrome ISO RGD:730838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8701935 Cspg4 chondroitin sulfate proteoglycan 4 gene DOID:3213 demyelinating disease ISO RGD:730839 D RGD:9068941 20200609 RGD PMID:22078261|REF_RGD_ID:5686845 8701935 Cspg4 chondroitin sulfate proteoglycan 4 gene DOID:3613 Canavan disease ISO RGD:733059 D RGD:9068941 20200609 RGD PMID:19739253|REF_RGD_ID:5686858 8701935 Cspg4 chondroitin sulfate proteoglycan 4 gene DOID:5419 schizophrenia ISO RGD:730838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8701935 Cspg4 chondroitin sulfate proteoglycan 4 gene DOID:684 hepatocellular carcinoma ISO RGD:730838 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8701935 Cspg4 chondroitin sulfate proteoglycan 4 gene DOID:9000039 Spinal Cord Injuries ISO RGD:619942 D RGD:9068941 20200609 RGD PMID:22042562|REF_RGD_ID:5686848 8701935 Cspg4 chondroitin sulfate proteoglycan 4 gene DOID:9000039 Spinal Cord Injuries ISO RGD:730838 D RGD:9068941 20200609 RGD PMID:19604403|REF_RGD_ID:5686859 8701935 Cspg4 chondroitin sulfate proteoglycan 4 gene DOID:9000039 Spinal Cord Injuries ISO RGD:730839 D RGD:9068941 20200609 RGD PMID:22243800|REF_RGD_ID:5686844 8701935 Cspg4 chondroitin sulfate proteoglycan 4 gene DOID:9000998 Brain Injuries ISO RGD:619942 D RGD:9068941 20200609 RGD protein:altered expression:cerebral cortex PMID:19473238|REF_RGD_ID:5686860 8701935 Cspg4 chondroitin sulfate proteoglycan 4 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:619942 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:20162860|REF_RGD_ID:5686863 8701935 Cspg4 chondroitin sulfate proteoglycan 4 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:730839 D RGD:9068941 20200609 RGD PMID:21679768|REF_RGD_ID:5686852 8701935 Cspg4 chondroitin sulfate proteoglycan 4 gene DOID:9004009 Reperfusion Injury ISO RGD:619942 D RGD:9068941 20200609 RGD PMID:17565360|REF_RGD_ID:5686869 8701935 Cspg4 chondroitin sulfate proteoglycan 4 gene DOID:9007096 Stroke ISO RGD:619942 D RGD:9068941 20200609 RGD PMID:21951366|REF_RGD_ID:5686849 8701935 Cspg4 chondroitin sulfate proteoglycan 4 gene DOID:9256 colorectal cancer ISO RGD:730838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8701935 Cspg4 chondroitin sulfate proteoglycan 4 gene DOID:9952 acute lymphoblastic leukemia severity ISO RGD:730838 D RGD:9068941 20200609 RGD PMID:8562939|REF_RGD_ID:734840 8701952 Klf12 KLF transcription factor 12 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1319416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 8701952 Klf12 KLF transcription factor 12 gene DOID:303 substance-related disorder ISO RGD:1319416 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 8701952 Klf12 KLF transcription factor 12 gene DOID:5419 schizophrenia ISO RGD:1319416 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 8701984 Lrfn4 leucine rich repeat and fibronectin type III domain containing 4 gene DOID:0061060 immunodeficiency 90 ISO RGD:1350359 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8701984 Lrfn4 leucine rich repeat and fibronectin type III domain containing 4 gene DOID:1059 intellectual disability ISO RGD:1350359 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8701984 Lrfn4 leucine rich repeat and fibronectin type III domain containing 4 gene DOID:3651 pyruvate carboxylase deficiency disease ISO RGD:1350359 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pyruvate carboxylase deficiency PMID:12112657|PMID:19306334|PMID:25741868|PMID:28492532 8701984 Lrfn4 leucine rich repeat and fibronectin type III domain containing 4 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1350359 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8701990 Ece1 endothelin converting enzyme 1 gene DOID:0050855 renal fibrosis ISO RGD:620293 D RGD:9068941 20200609 RGD associated with Ureteral obstruction;mRNA:increased expression:kidney PMID:11078391|REF_RGD_ID:7244179 8701990 Ece1 endothelin converting enzyme 1 gene DOID:0060369 Parkinson's disease 6 ISO RGD:731823 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 8701990 Ece1 endothelin converting enzyme 1 gene DOID:0070541 3-hydroxy-3-methylglutaryl-CoA lyase deficiency ISO RGD:731823 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 8701990 Ece1 endothelin converting enzyme 1 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:731823 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hyperprolinemia type 2 PMID:28492532 8701990 Ece1 endothelin converting enzyme 1 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:731823 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 8701990 Ece1 endothelin converting enzyme 1 gene DOID:10487 Hirschsprung's disease ISO RGD:731823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 8701990 Ece1 endothelin converting enzyme 1 gene DOID:10652 Alzheimer's disease ISO RGD:731823 D RGD:9068941 20200609 RGD PMID:15340356|REF_RGD_ID:1580902 8701990 Ece1 endothelin converting enzyme 1 gene DOID:10763 hypertension ISO RGD:620293 D RGD:9068941 20200609 RGD PMID:12193123|REF_RGD_ID:1580907 8701990 Ece1 endothelin converting enzyme 1 gene DOID:10763 hypertension ISO RGD:620293 D RGD:9068941 20200609 RGD mRNA,protein:increased expression,increased activity:kidney medulla PMID:10894793|REF_RGD_ID:7244182 8701990 Ece1 endothelin converting enzyme 1 gene DOID:10763 hypertension ISO RGD:731823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12566389 8701990 Ece1 endothelin converting enzyme 1 gene DOID:10763 hypertension ISO RGD:731823 D RGD:9068941 20200609 RGD PMID:15126915|REF_RGD_ID:1580904 8701990 Ece1 endothelin converting enzyme 1 gene DOID:10825 essential hypertension ISO RGD:731823 D RGD:7240710 20250129 OMIM 8701990 Ece1 endothelin converting enzyme 1 gene DOID:10825 essential hypertension ISO RGD:731823 D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: ECE1-related condition PMID:25741868|PMID:28492532 8701990 Ece1 endothelin converting enzyme 1 gene DOID:11465 autonomic nervous system disease ISO RGD:731823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9915973 8701990 Ece1 endothelin converting enzyme 1 gene DOID:1184 nephrotic syndrome ISO RGD:620293 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:kidney: PMID:12972712|REF_RGD_ID:7244242 8701990 Ece1 endothelin converting enzyme 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:731823 D RGD:9068941 20200609 RGD PMID:11145756|REF_RGD_ID:1580911 8701990 Ece1 endothelin converting enzyme 1 gene DOID:1682 congenital heart disease ISO RGD:731823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9449665|PMID:9915973 8701990 Ece1 endothelin converting enzyme 1 gene DOID:3021 acute kidney failure ISO RGD:620293 D RGD:9068941 20200609 RGD PMID:10073607|PMID:11043448|REF_RGD_ID:7244180|REF_RGD_ID:7244185 8701990 Ece1 endothelin converting enzyme 1 gene DOID:3393 coronary artery disease ISO RGD:731823 D RGD:9068941 20200609 RGD PMID:10973835|REF_RGD_ID:1580909 8701990 Ece1 endothelin converting enzyme 1 gene DOID:3393 coronary artery disease ISO RGD:731823 D RGD:9068941 20200609 RGD protein:increased expression:smooth muscle cell,macrophage PMID:8994440|REF_RGD_ID:7244168 8701990 Ece1 endothelin converting enzyme 1 gene DOID:3454 brain infarction ISO RGD:1552140 D RGD:9068941 20200609 RGD PMID:15485550|REF_RGD_ID:1580908 8701990 Ece1 endothelin converting enzyme 1 gene DOID:5844 myocardial infarction ISO RGD:731823 D RGD:9068941 20200609 RGD PMID:9607404|REF_RGD_ID:1580912 8701990 Ece1 endothelin converting enzyme 1 gene DOID:6000 congestive heart failure ISO RGD:620293 D RGD:9068941 20200609 RGD associated with myocardial ischemia PMID:19596829|REF_RGD_ID:7243876 8701990 Ece1 endothelin converting enzyme 1 gene DOID:6000 congestive heart failure ISO RGD:620293 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:kidney: PMID:9595392|REF_RGD_ID:7244244 8701990 Ece1 endothelin converting enzyme 1 gene DOID:6000 congestive heart failure ISO RGD:731823 D RGD:9068941 20200609 RGD PMID:11145756|REF_RGD_ID:1580911 8701990 Ece1 endothelin converting enzyme 1 gene DOID:6406 double outlet right ventricle ISO RGD:1552140 D RGD:9068941 20220825 MouseDO OMIM:217095 8701990 Ece1 endothelin converting enzyme 1 gene DOID:6432 pulmonary hypertension ISO RGD:620293 D RGD:9068941 20200609 RGD associated with Anoxia; PMID:18767389|REF_RGD_ID:7243939 8701990 Ece1 endothelin converting enzyme 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:620293 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:16170464|REF_RGD_ID:7243952 8701990 Ece1 endothelin converting enzyme 1 gene DOID:9001782 Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction ISO RGD:731823 D RGD:7240710 20250129 OMIM 8701990 Ece1 endothelin converting enzyme 1 gene DOID:9001782 Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction ISO RGD:731823 D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: ECE1-related condition | ClinVar Annotator: match by term: Hirschsprung disease, cardiac defects, and autonomic dysfunction PMID:25741868|PMID:28492532|PMID:34298581|PMID:8530372|PMID:9915973 8701990 Ece1 endothelin converting enzyme 1 gene DOID:9002514 Neointima ISO RGD:620293 D RGD:9068941 20200609 RGD mRNA:increased expression:carotid artery PMID:8575076|REF_RGD_ID:7244170 8701990 Ece1 endothelin converting enzyme 1 gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:1552140 D RGD:9068941 20200609 RGD PMID:9649553|REF_RGD_ID:734910 8701990 Ece1 endothelin converting enzyme 1 gene DOID:9004283 Transplant Rejection ISO RGD:620293 D RGD:9068941 20200609 RGD PMID:10401760|REF_RGD_ID:7244165 8701990 Ece1 endothelin converting enzyme 1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:620293 D RGD:9068941 20200609 RGD associated with Hypertension, Renovascular and Diabetes Mellitus, Experimental;mRNA,protein:increased expression:heart left ventricle PMID:14627492|REF_RGD_ID:7244172 8701990 Ece1 endothelin converting enzyme 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620293 D RGD:9068941 20200609 RGD mRNA:increased expression:thoracic aorta PMID:23600389|REF_RGD_ID:7243858 8701990 Ece1 endothelin converting enzyme 1 gene DOID:9005666 Contrast-Induced Nephropathy ISO RGD:620293 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:kidney medulla PMID:18385664|REF_RGD_ID:7243946 8701990 Ece1 endothelin converting enzyme 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:620293 D RGD:9068941 20200609 RGD PMID:12193087|PMID:18586023|REF_RGD_ID:4892580|REF_RGD_ID:7244160 8701990 Ece1 endothelin converting enzyme 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:731823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9449665 8701990 Ece1 endothelin converting enzyme 1 gene DOID:9279 hyperhomocysteinemia ISO RGD:620293 D RGD:9068941 20200609 RGD PMID:19371338|REF_RGD_ID:4892572 8701990 Ece1 endothelin converting enzyme 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:731823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16387788 8702063 Bltp2 bridge-like lipid transfer protein family member 2 gene DOID:10283 prostate cancer ISO RGD:1605423 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8702117 Alg13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:0050562 West syndrome ISO RGD:1351399 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Infantile spasm PMID:25741868|PMID:32681751 8702117 Alg13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:1351399 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Infantile spasm PMID:25741868|PMID:32681751 8702117 Alg13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8702117 Alg13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1351399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:25741868|PMID:28492532 8702117 Alg13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:0080470 developmental and epileptic encephalopathy 36 ISO RGD:1351399 D RGD:7240710 20180130 OMIM 8702117 Alg13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:0080470 developmental and epileptic encephalopathy 36 ISO RGD:1351399 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: ALG13-related condition | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Is | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 36 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 36 PMID:16199547|PMID:17576681|PMID:22492991|PMID:23033978|PMID:23934111|PMID:24476948|PMID:24781210|PMID:24896178|PMID:25640679|PMID:25732998|PMID:25741868|PMID:26138355|PMID:26467025|PMID:26482601|PMID:27781031|PMID:28397838|PMID:28492532|PMID:28777499|PMID:28778787|PMID:28887793|PMID:28940310|PMID:32238909|PMID:32631363|PMID:32681751|PMID:33734437|PMID:35899201|PMID:39825153|PMID:9536098 8702117 Alg13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:0111823 autosomal hemophilia A ISO RGD:1351399 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A PMID:31690835 8702117 Alg13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:1059 intellectual disability ISO RGD:1351399 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:23033978|PMID:23934111|PMID:24781210|PMID:24896178|PMID:25732998|PMID:25741868|PMID:26138355|PMID:26482601|PMID:28492532|PMID:28778787|PMID:28887793|PMID:28940310|PMID:32238909|PMID:32681751|PMID:33734437 8702117 Alg13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:10907 microcephaly ISO RGD:1351399 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:23033978|PMID:23934111|PMID:24781210|PMID:24896178|PMID:25732998|PMID:25741868|PMID:26138355|PMID:26482601|PMID:28492532|PMID:28778787|PMID:28887793|PMID:28940310|PMID:32238909|PMID:32681751|PMID:33734437 8702117 Alg13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:12134 factor VIII deficiency ISO RGD:1351399 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Factor 8 deficiency, congenital PMID:31690835 8702117 Alg13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:12849 autistic disorder ISO RGD:1351399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8702117 Alg13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:1826 epilepsy ISO RGD:1351399 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Seizure PMID:23033978|PMID:23934111|PMID:24781210|PMID:24896178|PMID:25732998|PMID:25741868|PMID:26138355|PMID:26482601|PMID:28492532|PMID:28778787|PMID:28887793|PMID:28940310|PMID:32238909|PMID:32681751|PMID:33734437 8702117 Alg13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:1827 generalized epilepsy ISO RGD:1351399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy 8702117 Alg13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:5212 congenital disorder of glycosylation ISO RGD:1351399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome | ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:25741868|PMID:32681751|PMID:33734437 8702117 Alg13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:5419 schizophrenia ISO RGD:1351399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8702117 Alg13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:630 genetic disease ISO RGD:1351399 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23033978|PMID:23934111|PMID:24476948|PMID:24781210|PMID:24896178|PMID:25732998|PMID:25741868|PMID:26138355|PMID:26467025|PMID:26482601|PMID:28492532|PMID:28778787|PMID:28887793|PMID:28940310|PMID:32238909|PMID:32681751|PMID:33734437 8702117 Alg13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:9002278 Metabolic Bone Diseases ISO RGD:1351399 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Osteopenia PMID:25741868|PMID:32681751 8702117 Alg13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 8702117 Alg13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:9005603 Muscle Hypotonia ISO RGD:1351399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular hypotonia PMID:23033978|PMID:23934111|PMID:24781210|PMID:24896178|PMID:25732998|PMID:25741868|PMID:26138355|PMID:26482601|PMID:28492532|PMID:28940310|PMID:32238909|PMID:32681751|PMID:33734437 8702117 Alg13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:9005603 Muscle Hypotonia ISO RGD:1351399 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: poor muscle tone PMID:23033978|PMID:23934111|PMID:24781210|PMID:24896178|PMID:25732998|PMID:25741868|PMID:26138355|PMID:26482601|PMID:28492532|PMID:28778787|PMID:28887793|PMID:28940310|PMID:32238909|PMID:32681751|PMID:33734437 8702117 Alg13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:9007 sudden infant death syndrome ISO RGD:1351399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:25741868 8702169 Ltb4r leukotriene B4 receptor gene DOID:0060439 lysinuric protein intolerance ISO RGD:1348020 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 8702169 Ltb4r leukotriene B4 receptor gene DOID:10754 otitis media IEP D RGD:11553910|PMID:20433028 20161017 RGD 8702169 Ltb4r leukotriene B4 receptor gene DOID:11664 nephrosclerosis ISO RGD:1550123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30818366 8702169 Ltb4r leukotriene B4 receptor gene DOID:2349 arteriosclerosis ISO RGD:1550123 D RGD:9068941 20200609 RGD PMID:16043658|REF_RGD_ID:1581956 8702169 Ltb4r leukotriene B4 receptor gene DOID:3407 carotid artery disease ISO RGD:620410 D RGD:9068941 20200609 RGD PMID:16293697|REF_RGD_ID:1581954 8702169 Ltb4r leukotriene B4 receptor gene DOID:409 liver disease ISO RGD:1348020 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 8702169 Ltb4r leukotriene B4 receptor gene DOID:9000265 Specific Granule Deficiency ISO RGD:1348020 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 8702169 Ltb4r leukotriene B4 receptor gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1348020 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8702169 Ltb4r leukotriene B4 receptor gene DOID:9005372 Inflammation ISO RGD:1348020 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10934231 8702169 Ltb4r leukotriene B4 receptor gene DOID:9007278 Anaphylaxis ISO RGD:1348020 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10934231 8702169 Ltb4r leukotriene B4 receptor gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1550123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28487374 8702169 Ltb4r leukotriene B4 receptor gene DOID:9008114 Helicobacter Infections treatment ISO RGD:1348020 D RGD:9068941 20210108 RGD PMID:18571838|REF_RGD_ID:40903061 8702184 Sftpc surfactant protein C gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:736728 D RGD:8554872 20240702 ClinVar ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia PMID:14735158|PMID:15039969|PMID:15516475|PMID:15709974|PMID:18383112|PMID:19443464|PMID:19910179|PMID:22308375|PMID:23775869|PMID:24033266|PMID:24081995|PMID:24347114|PMID:25657025|PMID:25741868|PMID:27362365|PMID:28492532|PMID:33526882 8702184 Sftpc surfactant protein C gene DOID:0050158 desquamative interstitial pneumonia ISO RGD:733829 D RGD:9068941 20220825 MouseDO OMIM:263000 8702184 Sftpc surfactant protein C gene DOID:0060971 interstitial lung disease 2 ISO RGD:736728 D RGD:8554872 20240702 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:14735158|PMID:15039969|PMID:15516475|PMID:15709974|PMID:18383112|PMID:19443464|PMID:19910179|PMID:22308375|PMID:23025826|PMID:23775869|PMID:24033266|PMID:24081995|PMID:24347114|PMID:25657025|PMID:25741868|PMID:25782673|PMID:27362365|PMID:28492532|PMID:33526882 8702184 Sftpc surfactant protein C gene DOID:0080000 muscular disease ISO RGD:736728 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Skeletal muscle disease PMID:25741868 8702184 Sftpc surfactant protein C gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:736728 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Proximal muscle weakness in upper limbs PMID:25741868 8702184 Sftpc surfactant protein C gene DOID:0110342 osteogenesis imperfecta type 13 ISO RGD:736728 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta, type xiii PMID:25741868 8702184 Sftpc surfactant protein C gene DOID:11339 pneumocystosis ISO RGD:733829 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:11385364|REF_RGD_ID:4143431 8702184 Sftpc surfactant protein C gene DOID:11394 adult respiratory distress syndrome ISO RGD:736728 D RGD:9068941 20200609 RGD PMID:9720777|REF_RGD_ID:4144159 8702184 Sftpc surfactant protein C gene DOID:11394 adult respiratory distress syndrome ISO RGD:736728 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:17662121|REF_RGD_ID:4143379 8702184 Sftpc surfactant protein C gene DOID:11612 polycystic ovary syndrome ISO RGD:736728 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8702184 Sftpc surfactant protein C gene DOID:12053 cryptococcosis ISO RGD:733829 D RGD:9068941 20200827 RGD mRNA:increased expression:lung (mouse) PMID:27596810|REF_RGD_ID:38549345 8702184 Sftpc surfactant protein C gene DOID:12120 pulmonary alveolar proteinosis ISO RGD:736728 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Pulmonary alveolar proteinosis PMID:25741868 8702184 Sftpc surfactant protein C gene DOID:12347 osteogenesis imperfecta ISO RGD:736728 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:24033266|PMID:25741868|PMID:28492532 8702184 Sftpc surfactant protein C gene DOID:12716 newborn respiratory distress syndrome ISO RGD:736728 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Neonatal respiratory distress PMID:25741868 8702184 Sftpc surfactant protein C gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:733829 D RGD:9068941 20200609 RGD PMID:19304906|REF_RGD_ID:4144065 8702184 Sftpc surfactant protein C gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:736728 D RGD:9068941 20200609 RGD DNA:polymorphism: :138A>C, 186A>G (human) PMID:17121584|REF_RGD_ID:4144116 8702184 Sftpc surfactant protein C gene DOID:1485 cystic fibrosis ISO RGD:736728 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:15271694|REF_RGD_ID:4143403 8702184 Sftpc surfactant protein C gene DOID:2841 asthma ISO RGD:733829 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:lung PMID:11472974|REF_RGD_ID:4143465 8702184 Sftpc surfactant protein C gene DOID:2841 asthma ISO RGD:736728 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:16629790|REF_RGD_ID:4143462 8702184 Sftpc surfactant protein C gene DOID:2841 asthma susceptibility ISO RGD:736728 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.A53T (human) PMID:19910179|REF_RGD_ID:4144063 8702184 Sftpc surfactant protein C gene DOID:3082 interstitial lung disease ISO RGD:736728 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Interstitial lung disease PMID:25741868 8702184 Sftpc surfactant protein C gene DOID:3082 interstitial lung disease susceptibility ISO RGD:736728 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.N186S (human) PMID:16423270|REF_RGD_ID:4144126 8702184 Sftpc surfactant protein C gene DOID:3083 chronic obstructive pulmonary disease disease_progression ISO RGD:736728 D RGD:9068941 20200609 RGD DNA:polymorphism: :186A>G (human) PMID:18038590|REF_RGD_ID:4144115 8702184 Sftpc surfactant protein C gene DOID:3770 pulmonary fibrosis ISO RGD:736728 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis PMID:15039969|PMID:15293602|PMID:15572558|PMID:15756222|PMID:17597647|PMID:19443464|PMID:21092132|PMID:21707890|PMID:22308375|PMID:25657025|PMID:25741868|PMID:27362365|PMID:28492532|PMID:31081264|PMID:33526882 8702184 Sftpc surfactant protein C gene DOID:3770 pulmonary fibrosis susceptibility ISO RGD:736728 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.M71V, p.I73T (human) PMID:20656946|REF_RGD_ID:4144060 8702184 Sftpc surfactant protein C gene DOID:3910 lung adenocarcinoma ISO RGD:736728 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25851810 8702184 Sftpc surfactant protein C gene DOID:423 myopathy ISO RGD:736728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Skeletal myopathy PMID:25741868 8702184 Sftpc surfactant protein C gene DOID:552 pneumonia ISO RGD:733829 D RGD:9068941 20200609 RGD PMID:15967375|REF_RGD_ID:4143394 8702184 Sftpc surfactant protein C gene DOID:630 genetic disease ISO RGD:736728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22308375 8702184 Sftpc surfactant protein C gene DOID:850 lung disease ISO RGD:736728 D RGD:9068941 20200609 RGD Acute Lung Injury;mRNA:increased expression:pneumocyte PMID:8569184|REF_RGD_ID:4143451 8702184 Sftpc surfactant protein C gene DOID:850 lung disease ISO RGD:736728 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.I73T (human) PMID:16910460|REF_RGD_ID:4144117 8702184 Sftpc surfactant protein C gene DOID:850 lung disease ISO RGD:736728 D RGD:9068941 20200609 RGD surfactant metabolism dysfunction SMDP2,OMIM:610913;DNA:point mutation:intron:460+1G>A (human) PMID:11207353|REF_RGD_ID:1624153 8702184 Sftpc surfactant protein C gene DOID:850 lung disease ISO RGD:737198 D RGD:9068941 20200609 RGD Lung Injury PMID:11796659|REF_RGD_ID:4143420 8702184 Sftpc surfactant protein C gene DOID:874 bacterial pneumonia ISO RGD:3666 D RGD:9068941 20200609 RGD PMID:12169586|REF_RGD_ID:4143464 8702184 Sftpc surfactant protein C gene DOID:874 bacterial pneumonia ISO RGD:733829 D RGD:9068941 20200609 RGD PMID:18566429|REF_RGD_ID:4144114 8702184 Sftpc surfactant protein C gene DOID:9000613 Hyaline Membrane Disease ISO RGD:736728 D RGD:9068941 20200609 RGD PMID:9655740|REF_RGD_ID:4143444 8702184 Sftpc surfactant protein C gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:733829 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:14748931|REF_RGD_ID:4143407 8702184 Sftpc surfactant protein C gene DOID:9001026 Pulmonary Surfactant Metabolism Dysfunction 1 ISO RGD:736728 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 1 PMID:25741868|PMID:28492532 8702184 Sftpc surfactant protein C gene DOID:9003953 Surfactant Dysfunction ISO RGD:736728 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Pulmonary surfactant metabolism dysfunction PMID:11893657|PMID:14735158|PMID:15039969|PMID:15293602|PMID:15516475|PMID:15557112|PMID:15572558|PMID:15709974|PMID:15756222|PMID:17576681|PMID:17597647|PMID:18383112|PMID:19443464|PMID:19910179|PMID:20403820|PMID:20463293|PMID:20658481|PMID:21092132|PMID:21707890|PMID:22308375|PMID:22458263|PMID:23775869|PMID:24033266|PMID:24081995|PMID:24347114|PMID:25657025|PMID:25741868|PMID:27362365|PMID:28157837|PMID:28492532|PMID:29805340|PMID:31081264|PMID:33526882|PMID:9536098 8702184 Sftpc surfactant protein C gene DOID:9004009 Reperfusion Injury ISO RGD:3666 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung PMID:20560845|REF_RGD_ID:4144062 8702184 Sftpc surfactant protein C gene DOID:9005603 Muscle Hypotonia ISO RGD:736728 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Neonatal hypotonia PMID:25741868 8702184 Sftpc surfactant protein C gene DOID:9005976 Pulmonary Surfactant Metabolism Dysfunction 2 ISO RGD:736728 D RGD:7240710 20180130 OMIM 8702184 Sftpc surfactant protein C gene DOID:9005976 Pulmonary Surfactant Metabolism Dysfunction 2 ISO RGD:736728 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 2 PMID:11207353|PMID:11893657|PMID:11991887|PMID:12538769|PMID:13817571|PMID:14525980|PMID:14735158|PMID:15039969|PMID:15293602|PMID:15516475|PMID:15572558|PMID:15647591|PMID:15709974|PMID:15756222|PMID:17005585|PMID:17576681|PMID:17597647|PMID:18383112|PMID:19443464|PMID:19910179|PMID:20118944|PMID:20403820|PMID:20656946|PMID:20658481|PMID:21092132|PMID:21707890|PMID:21828032|PMID:22308375|PMID:23025826|PMID:23166334|PMID:23625987|PMID:23775869|PMID:24033266|PMID:24081995|PMID:24347114|PMID:25105258|PMID:25657025|PMID:25741868|PMID:25782673|PMID:27362365|PMID:28295039|PMID:28492532|PMID:29554876|PMID:29569581|PMID:31081264|PMID:33526882|PMID:34589332|PMID:5942662|PMID:9536098 8702184 Sftpc surfactant protein C gene DOID:9007480 Hyperoxia ISO RGD:3666 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:11472975|REF_RGD_ID:4143429 8702184 Sftpc surfactant protein C gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:736728 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 8702184 Sftpc surfactant protein C gene DOID:9009073 Diaphragmatic Hernia ISO RGD:736728 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10751355 8702184 Sftpc surfactant protein C gene DOID:9675 pulmonary emphysema susceptibility ISO RGD:736728 D RGD:9068941 20200609 RGD DNA:polymorphism: :138A>C, 186A>G (human) PMID:18038590|REF_RGD_ID:4144115 8702202 Cep112 centrosomal protein 112 gene DOID:0112109 spermatogenic failure 44 ISO RGD:1604510 D RGD:7240710 20201021 OMIM 8702202 Cep112 centrosomal protein 112 gene DOID:0112109 spermatogenic failure 44 ISO RGD:1604510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 44 PMID:31654588 8702289 Elk3 ETS transcription factor ELK3 gene DOID:0060646 congenital chylothorax ISO RGD:1317144 D RGD:9068941 20220825 MouseDO OMIM:603523 8702289 Elk3 ETS transcription factor ELK3 gene DOID:2513 basal cell carcinoma ISO RGD:1317143 D RGD:9068941 20240606 CTD CTD Direct Evidence: marker/mechanism PMID:36428691 8702289 Elk3 ETS transcription factor ELK3 gene DOID:9008939 Breast Neoplasms ISO RGD:1317143 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16583263 8702289 Elk3 ETS transcription factor ELK3 gene DOID:9775 diastolic heart failure ISO RGD:1317143 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 8702310 Tex28 testis expressed 28 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1342529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, with frontometaphyseal dysplasia PMID:28492532 8702310 Tex28 testis expressed 28 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1342529 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular PMID:10480214|PMID:11748843|PMID:11968085|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17546640|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24098143|PMID:24365856|PMID:24962355|PMID:25817843|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8702310 Tex28 testis expressed 28 gene DOID:0050476 Barth syndrome ISO RGD:1342529 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11379875|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:18177777|PMID:18627054|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:35384376|PMID:9384614 8702310 Tex28 testis expressed 28 gene DOID:0050800 cerebral creatine deficiency syndrome 1 ISO RGD:1342529 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11379875|PMID:11748843|PMID:11968085|PMID:15351775|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17088400|PMID:17172942|PMID:18047645|PMID:18177777|PMID:18627054|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:22578097|PMID:22659343|PMID:23220634|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:26930212|PMID:28492532|PMID:29334594|PMID:35384376|PMID:9384614 8702310 Tex28 testis expressed 28 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1342529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 8702310 Tex28 testis expressed 28 gene DOID:0111784 otopalatodigital syndrome type 2 ISO RGD:1342529 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II PMID:15689435|PMID:16080119|PMID:28492532 8702310 Tex28 testis expressed 28 gene DOID:0111785 frontometaphyseal dysplasia ISO RGD:1342529 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontometaphyseal dysplasia PMID:15689435|PMID:16080119|PMID:28492532 8702310 Tex28 testis expressed 28 gene DOID:0111788 Melnick-Needles syndrome ISO RGD:1342529 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles PMID:15689435|PMID:16080119|PMID:28492532 8702310 Tex28 testis expressed 28 gene DOID:0111814 methylmalonic acidemia and homocysteinemia cblX type ISO RGD:1342529 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 PMID:15689435|PMID:16080119|PMID:28492532 8702310 Tex28 testis expressed 28 gene DOID:0111823 autosomal hemophilia A ISO RGD:1342529 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A PMID:31690835 8702310 Tex28 testis expressed 28 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1342529 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:18047645|PMID:22578097|PMID:22659343|PMID:22679399|PMID:23220634|PMID:26930212|PMID:28492532 8702310 Tex28 testis expressed 28 gene DOID:0112003 immunodeficiency 33 ISO RGD:1342529 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 8702310 Tex28 testis expressed 28 gene DOID:10588 adrenoleukodystrophy ISO RGD:1342529 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11379875|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:18177777|PMID:18627054|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:35384376|PMID:9384614 8702310 Tex28 testis expressed 28 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1342529 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11379875|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:18177777|PMID:18627054|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:35384376|PMID:9384614 8702310 Tex28 testis expressed 28 gene DOID:12134 factor VIII deficiency ISO RGD:1342529 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Factor 8 deficiency, congenital PMID:31690835 8702310 Tex28 testis expressed 28 gene DOID:12849 autistic disorder ISO RGD:1342529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8702310 Tex28 testis expressed 28 gene DOID:13628 favism ISO RGD:1342529 D RGD:8554872 20240716 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:10480214|PMID:11379875|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:18177777|PMID:18627054|PMID:19396829|PMID:19846429|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:28492532|PMID:35384376|PMID:9384614 8702310 Tex28 testis expressed 28 gene DOID:2729 dyskeratosis congenita ISO RGD:1342529 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:10480214|PMID:11379875|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:18177777|PMID:18627054|PMID:19396829|PMID:19846429|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:28492532|PMID:35384376|PMID:9384614 8702310 Tex28 testis expressed 28 gene DOID:607 paraplegia ISO RGD:1342529 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11379875|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:18177777|PMID:18627054|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:35384376|PMID:9384614 8702310 Tex28 testis expressed 28 gene DOID:9002720 Splenomegaly ISO RGD:1342529 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 8702310 Tex28 testis expressed 28 gene DOID:9005082 Periventricular Nodular Heterotopia 4 ISO RGD:1342529 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PERIVENTRICULAR NODULAR HETEROTOPIA 4 PMID:15689435|PMID:16080119|PMID:28492532 8702310 Tex28 testis expressed 28 gene DOID:9005190 Juberg Hayward Syndrome ISO RGD:1342529 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cranio-oro-digital syndrome PMID:15689435|PMID:16080119|PMID:28492532 8702310 Tex28 testis expressed 28 gene DOID:9005521 Chromosome Xq28 Duplication Syndrome ISO RGD:1342529 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome 8702316 Habp4 hyaluronan binding protein 4 gene DOID:1059 intellectual disability ISO RGD:1315131 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8702337 Pgp phosphoglycolate phosphatase gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1351096 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:11112665|PMID:17287951|PMID:21520333|PMID:25741868|PMID:27406250|PMID:28492532 8702337 Pgp phosphoglycolate phosphatase gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1351096 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:28492532|PMID:30866059 8702337 Pgp phosphoglycolate phosphatase gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1351096 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8702337 Pgp phosphoglycolate phosphatase gene DOID:1826 epilepsy ISO RGD:1351096 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8702337 Pgp phosphoglycolate phosphatase gene DOID:2871 endometrial carcinoma ISO RGD:1351096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma 8702337 Pgp phosphoglycolate phosphatase gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1351096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 8702337 Pgp phosphoglycolate phosphatase gene DOID:9009315 Idiopathic Generalized Epilepsy ISO RGD:1351096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8702344 Rps23 ribosomal protein S23 gene DOID:0070415 brachycephaly, trichomegaly, and developmental delay ISO RGD:1343302 D RGD:7240710 20190315 OMIM 8702344 Rps23 ribosomal protein S23 gene DOID:0070415 brachycephaly, trichomegaly, and developmental delay ISO RGD:1343302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brachycephaly, trichomegaly, and developmental delay PMID:25741868|PMID:28257692 8702344 Rps23 ribosomal protein S23 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8702359 Eml6 EMAP like 6 gene DOID:10126 keratoconus ISO RGD:2302327 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Keratoconus 8702359 Eml6 EMAP like 6 gene DOID:9002189 High Myopia ISO RGD:2302327 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: High myopia PMID:33729517|PMID:35081682|PMID:36543923 8702408 Amer3 APC membrane recruitment protein 3 gene DOID:5419 schizophrenia ISO RGD:1601927 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8702408 Amer3 APC membrane recruitment protein 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601927 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8702408 Amer3 APC membrane recruitment protein 3 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:1601927 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 8702432 Ncam2 neural cell adhesion molecule 2 gene DOID:10652 Alzheimer's disease ISO RGD:1342930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:24691562 8702432 Ncam2 neural cell adhesion molecule 2 gene DOID:13938 amenorrhea ISO RGD:1342930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8702432 Ncam2 neural cell adhesion molecule 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8702457 Sparcl1 SPARC like 1 gene DOID:1826 epilepsy ISO RGD:736595 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18488994 8702457 Sparcl1 SPARC like 1 gene DOID:2566 corneal dystrophy ISO RGD:736595 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Stromal corneal dystrophy 8702457 Sparcl1 SPARC like 1 gene DOID:289 endometriosis ISO RGD:736595 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 8702457 Sparcl1 SPARC like 1 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:736595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 8702472 Gng13 G protein subunit gamma 13 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1318585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 8702472 Gng13 G protein subunit gamma 13 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1318585 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 8702472 Gng13 G protein subunit gamma 13 gene DOID:1826 epilepsy ISO RGD:1318585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8702472 Gng13 G protein subunit gamma 13 gene DOID:9009315 Idiopathic Generalized Epilepsy ISO RGD:1318585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8702485 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:0050589 inflammatory bowel disease ISO RGD:736447 D RGD:9068941 20200609 RGD protein:increased expression PMID:21864296|REF_RGD_ID:5685671 8702485 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:0050967 spinocerebellar ataxia type 17 ISO RGD:736447 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24413982 8702485 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:0060478 Zika fever ISO RGD:10742 D RGD:9068941 20200702 RGD mRNA,protein:increased expression:brain PMID:30241539|REF_RGD_ID:32733625 8702485 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:0060496 respiratory allergy ISO RGD:736447 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24211530 8702485 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:0070004 myeloid neoplasm ISO RGD:10742 D RGD:9068941 20200609 RGD PMID:21937694|REF_RGD_ID:11354915 8702485 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:0080547 metabolic dysfunction-associated steatohepatitis disease_progression ISO RGD:2843 D RGD:9068941 20240727 RGD mRNA,protein:increased expression:liver (rat) PMID:28951310|REF_RGD_ID:407420265 8702485 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:0090145 dopamine beta-hydroxylase deficiency ISO RGD:736447 D RGD:9068941 20200609 RGD PMID:21209083|REF_RGD_ID:5685690 8702485 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:10320 asbestosis ISO RGD:736447 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25324550 8702485 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:10742 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:21094208|REF_RGD_ID:5686293 8702485 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:2055 post-traumatic stress disorder ISO RGD:2843 D RGD:9068941 20200609 RGD PMID:25331812|REF_RGD_ID:13782181 8702485 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:224 transient cerebral ischemia treatment ISO RGD:2843 D RGD:9068941 20200609 RGD PMID:25632565|REF_RGD_ID:11354959 8702485 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:3070 high grade glioma ISO RGD:736447 D RGD:9068941 20200609 RGD protein:increased expression PMID:21112319|REF_RGD_ID:5685704 8702485 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:736447 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 8702485 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:3770 pulmonary fibrosis ISO RGD:10742 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:lungs PMID:22227563|REF_RGD_ID:5685632 8702485 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:5199 ureteral obstruction treatment ISO RGD:2843 D RGD:9068941 20200609 RGD PMID:25707520|REF_RGD_ID:13782175 8702485 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:5844 myocardial infarction ISO RGD:736447 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25450231 8702485 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:684 hepatocellular carcinoma ISO RGD:736447 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284|PMID:29698666 8702485 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:7148 rheumatoid arthritis ISO RGD:736447 D RGD:9068941 20200609 RGD protein:increased expression:synovial joint PMID:11315915|REF_RGD_ID:5685639 8702485 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:8552 chronic myeloid leukemia ISO RGD:736447 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23777986 8702485 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:9000039 Spinal Cord Injuries ISO RGD:10742 D RGD:9068941 20200609 RGD mRNA: increased expression PMID:21933012|REF_RGD_ID:5685666 8702485 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:9000288 Chronic Intermittent Hypoxia ISO RGD:2843 D RGD:9068941 20230817 RGD mRNA:increased expression:kidney cortex, kidney medulla, liver (rat) PMID:32416216|REF_RGD_ID:401793731 8702485 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:2843 D RGD:9068941 20200609 RGD mRNA:increased expression PMID:21940431|REF_RGD_ID:5685664 8702485 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:9002138 Spinal Cord Reperfusion Injury treatment ISO RGD:2843 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord: PMID:24463125|REF_RGD_ID:11354961 8702485 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:9002165 Diabetic Nephropathies ISO RGD:2843 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression:kidney PMID:19301230|REF_RGD_ID:2311449 8702485 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:9002311 Experimental Autoimmune Myocarditis treatment ISO RGD:2843 D RGD:9068941 20200609 RGD PMID:21927577|REF_RGD_ID:5685668 8702485 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:9002955 Nerve Degeneration ISO RGD:2843 D RGD:9068941 20200609 RGD protein:decreased expression:spinal cord PMID:21436843|REF_RGD_ID:5685686 8702485 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:9004009 Reperfusion Injury ISO RGD:2843 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, experimental (D003921): protein:increased expression:brain PMID:22075494|REF_RGD_ID:5685650 8702485 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:2843 D RGD:9068941 20200709 RGD associated with Crush Injuries PMID:30465396|REF_RGD_ID:34901874 8702485 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:9005666 Contrast-Induced Nephropathy treatment ISO RGD:2843 D RGD:9068941 20200609 RGD PMID:27781957|REF_RGD_ID:13782262 8702485 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:9006532 Hematologic Neoplasms ISO RGD:736447 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23777986 8702485 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:9006945 Diabetic Cardiomyopathies ameliorates ISO RGD:10742 D RGD:9068941 20230302 RGD PMID:36044268|REF_RGD_ID:156430337 8702485 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:9007090 Experimental Seizures ISO RGD:2843 D RGD:9068941 20241214 RGD protein:increased expression:hippocampus: PMID:25219120|REF_RGD_ID:11354919 8702485 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736447 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 8702485 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:9007456 Female Infertility ISO RGD:736447 D RGD:9068941 20200609 RGD PMID:22143970|REF_RGD_ID:5685640 8702485 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:9007558 Acute Experimental Pancreatitis ISO RGD:2843 D RGD:9068941 20200609 RGD protein:increased expression:neutrophil: PMID:26464680|REF_RGD_ID:11354914 8702485 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:2843 D RGD:9068941 20200609 RGD PMID:24129401|PMID:25547710|REF_RGD_ID:11354962|REF_RGD_ID:13782178 8702485 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:9008022 Temporomandibular Joint Osteoarthritis ISO RGD:2843 D RGD:9068941 20200709 RGD mRNA,protein:increased expression:chondrocyte PMID:31007149|REF_RGD_ID:34888237 8702485 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:9008939 Breast Neoplasms ISO RGD:10742 D RGD:9068941 20200609 RGD protein:increased expression PMID:20957756|REF_RGD_ID:5686342 8702485 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:9452 steatotic liver disease ISO RGD:2843 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA:increased expression:liver: PMID:23647685|REF_RGD_ID:11354957 8702485 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:9452 steatotic liver disease treatment ISO RGD:10742 D RGD:9068941 20231019 RGD PMID:27813192|REF_RGD_ID:401842386 8702485 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:9970 obesity ISO RGD:736447 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26655953 8702509 Rigi RNA sensor RIG-I gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ISO RGD:1319812 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 8702509 Rigi RNA sensor RIG-I gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1319812 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 8702509 Rigi RNA sensor RIG-I gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1319812 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 8702509 Rigi RNA sensor RIG-I gene DOID:1883 hepatitis C ISO RGD:1319812 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20170495 8702509 Rigi RNA sensor RIG-I gene DOID:2365 West Nile encephalitis ISO RGD:1319813 D RGD:9068941 20210423 RGD mRNA:increased expression:brain PMID:24173226|REF_RGD_ID:126781836 8702509 Rigi RNA sensor RIG-I gene DOID:630 genetic disease ISO RGD:1319812 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:36261300 8702509 Rigi RNA sensor RIG-I gene DOID:8893 psoriasis ISO RGD:1319812 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143594 8702509 Rigi RNA sensor RIG-I gene DOID:9000371 influenza A ISO RGD:1319813 D RGD:9068941 20210122 RGD mRNA:increased expression:nasal cavity mucosa (mouse) PMID:25751630|REF_RGD_ID:40925925 8702509 Rigi RNA sensor RIG-I gene DOID:9000918 Disease Progression ISO RGD:1319812 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20170495 8702509 Rigi RNA sensor RIG-I gene DOID:9001488 Human Influenza ISO RGD:1319812 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 8702509 Rigi RNA sensor RIG-I gene DOID:9001499 Orthomyxoviridae Infections ISO RGD:1319812 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:25780039 8702509 Rigi RNA sensor RIG-I gene DOID:9002133 Singleton-Merten Syndrome 2 ISO RGD:1319812 D RGD:7240710 20180130 OMIM 8702509 Rigi RNA sensor RIG-I gene DOID:9002133 Singleton-Merten Syndrome 2 ISO RGD:1319812 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: RIGI-related condition | ClinVar Annotator: match by term: Singleton-Merten syndrome 2 PMID:25620203|PMID:25741868|PMID:28180316|PMID:28492532 8702509 Rigi RNA sensor RIG-I gene DOID:9562 primary ciliary dyskinesia ISO RGD:1319812 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8702509 Rigi RNA sensor RIG-I gene DOID:9870 galactosemia ISO RGD:1319812 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 8702530 Exosc5 exosome component 5 gene DOID:0061010 craniosynostosis 1 ISO RGD:1317301 D RGD:8554872 20241203 ClinVar ClinVar Annotator: match by term: TWIST1-related craniosynostosis PMID:28492532 8702530 Exosc5 exosome component 5 gene DOID:0061099 Carpenter syndrome 2 ISO RGD:1317301 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 8702530 Exosc5 exosome component 5 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1317301 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 8702530 Exosc5 exosome component 5 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1317301 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 8702530 Exosc5 exosome component 5 gene DOID:630 genetic disease ISO RGD:1317301 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8702530 Exosc5 exosome component 5 gene DOID:9000217 Stomach Neoplasms ISO RGD:1317301 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8702530 Exosc5 exosome component 5 gene DOID:9000918 Disease Progression ISO RGD:1317301 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8702530 Exosc5 exosome component 5 gene DOID:9003258 CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS ISO RGD:1317301 D RGD:7240710 20211208 OMIM 8702530 Exosc5 exosome component 5 gene DOID:9003258 CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS ISO RGD:1317301 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia, brain abnormalities, and cardiac conduction defects PMID:25741868|PMID:29302074|PMID:30950035|PMID:32504085|PMID:34089229 8702530 Exosc5 exosome component 5 gene DOID:9269 maple syrup urine disease ISO RGD:1317301 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:28492532 8702540 Il22ra2 interleukin 22 receptor subunit alpha 2 gene DOID:0080711 multisystem inflammatory syndrome in children ISO RGD:1322028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children 8702540 Il22ra2 interleukin 22 receptor subunit alpha 2 gene DOID:0081438 Peroxisome biogenesis disorder 9B ISO RGD:1322028 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 9B PMID:12325024|PMID:12522768|PMID:20301447|PMID:28492532 8702540 Il22ra2 interleukin 22 receptor subunit alpha 2 gene DOID:0111955 immunodeficiency 27A ISO RGD:1322028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 27A PMID:28492532 8702540 Il22ra2 interleukin 22 receptor subunit alpha 2 gene DOID:13276 Mycoplasma pneumoniae pneumonia severity ISO RGD:1322028 D RGD:9068941 20200626 RGD PMID:28302172|REF_RGD_ID:32716376 8702540 Il22ra2 interleukin 22 receptor subunit alpha 2 gene DOID:9004729 Nontuberculous Mycobacterium Infections ISO RGD:1322028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection PMID:26642243|PMID:28492532|PMID:29572183|PMID:8960473|PMID:9806040 8702540 Il22ra2 interleukin 22 receptor subunit alpha 2 gene DOID:9005986 Familial Behcet-Like Autoinflammatory Syndrome ISO RGD:1322028 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 8702555 Prkaa2 protein kinase AMP-activated catalytic subunit alpha 2 gene DOID:0050700 cardiomyopathy ISO RGD:730888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21037199 8702555 Prkaa2 protein kinase AMP-activated catalytic subunit alpha 2 gene DOID:10603 glucose intolerance ISO RGD:730888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19934007 8702555 Prkaa2 protein kinase AMP-activated catalytic subunit alpha 2 gene DOID:10603 glucose intolerance ISO RGD:730889 D RGD:9068941 20200609 RGD PMID:12511592|REF_RGD_ID:1302556 8702555 Prkaa2 protein kinase AMP-activated catalytic subunit alpha 2 gene DOID:10779 septic myocarditis treatment ISO RGD:730889 D RGD:9068941 20201008 RGD PMID:27621180|REF_RGD_ID:39456138 8702555 Prkaa2 protein kinase AMP-activated catalytic subunit alpha 2 gene DOID:14069 cerebral malaria ISO RGD:730889 D RGD:9068941 20201008 RGD mRNA:decreased expression:brain (mouse) PMID:29107705|REF_RGD_ID:39456137 8702555 Prkaa2 protein kinase AMP-activated catalytic subunit alpha 2 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:730888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29753072 8702555 Prkaa2 protein kinase AMP-activated catalytic subunit alpha 2 gene DOID:9002189 High Myopia ISO RGD:730888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 8702555 Prkaa2 protein kinase AMP-activated catalytic subunit alpha 2 gene DOID:9002371 Cardiotoxicity ISO RGD:620893 D RGD:9068941 20230713 RGD protein:decreased expression:serum, heart (rat) PMID:30644033|REF_RGD_ID:329955369 8702555 Prkaa2 protein kinase AMP-activated catalytic subunit alpha 2 gene DOID:9003139 Cardiac Fibrosis ISO RGD:620893 D RGD:9068941 20230713 RGD protein:decreased expression:serum, heart (rat) PMID:30644033|REF_RGD_ID:329955369 8702555 Prkaa2 protein kinase AMP-activated catalytic subunit alpha 2 gene DOID:9003936 Cardiomegaly ISO RGD:730888 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18812163 8702555 Prkaa2 protein kinase AMP-activated catalytic subunit alpha 2 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:620893 D RGD:9068941 20231026 RGD PMID:32535406|REF_RGD_ID:401850547 8702555 Prkaa2 protein kinase AMP-activated catalytic subunit alpha 2 gene DOID:9006646 Metabolic Syndrome ameliorates ISO RGD:730889 D RGD:9068941 20231026 RGD PMID:31353547|REF_RGD_ID:401850595 8702555 Prkaa2 protein kinase AMP-activated catalytic subunit alpha 2 gene DOID:9007096 Stroke ISO RGD:730888 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20847317 8702555 Prkaa2 protein kinase AMP-activated catalytic subunit alpha 2 gene DOID:9007692 Insulin Resistance ISO RGD:730888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19934007 8702555 Prkaa2 protein kinase AMP-activated catalytic subunit alpha 2 gene DOID:9007692 Insulin Resistance susceptibility ISO RGD:730888 D RGD:9068941 20200609 RGD DNA:SNPs PMID:16567511|REF_RGD_ID:1625266 8702555 Prkaa2 protein kinase AMP-activated catalytic subunit alpha 2 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:620893 D RGD:9068941 20231221 RGD PMID:20501665|REF_RGD_ID:10003160 8702555 Prkaa2 protein kinase AMP-activated catalytic subunit alpha 2 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:730888 D RGD:9068941 20200609 RGD DNA:SNPs PMID:16567511|REF_RGD_ID:1625266 8702598 Srek1ip1 SREK1 interacting protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8702615 Galnt14 polypeptide N-acetylgalactosaminyltransferase 14 gene DOID:8445 intestinal volvulus ISO RGD:1320757 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 8702615 Galnt14 polypeptide N-acetylgalactosaminyltransferase 14 gene DOID:9008386 Hydrops Fetalis ISO RGD:1320757 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:25741868|PMID:26036949 8702615 Galnt14 polypeptide N-acetylgalactosaminyltransferase 14 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1320757 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 8702642 Dyrk1b dual specificity tyrosine phosphorylation regulated kinase 1B gene DOID:0060612 abdominal obesity-metabolic syndrome 3 ISO RGD:1316288 D RGD:7240710 20180130 OMIM 8702642 Dyrk1b dual specificity tyrosine phosphorylation regulated kinase 1B gene DOID:0060612 abdominal obesity-metabolic syndrome 3 ISO RGD:1316288 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 3 | ClinVar Annotator: match by term: CENTRAL OBESITY, TYPE 2 DIABETES, HYPERTENSION, AND EARLY-ONSET CORONARY ARTERY DISEASE | ClinVar Annotator: match by term: DYRK1B-related condition PMID:17576681|PMID:24827035|PMID:25741868|PMID:28492532|PMID:32041611|PMID:9536098 8702642 Dyrk1b dual specificity tyrosine phosphorylation regulated kinase 1B gene DOID:0061010 craniosynostosis 1 ISO RGD:1316288 D RGD:8554872 20241203 ClinVar ClinVar Annotator: match by term: TWIST1-related craniosynostosis PMID:28492532 8702642 Dyrk1b dual specificity tyrosine phosphorylation regulated kinase 1B gene DOID:0061099 Carpenter syndrome 2 ISO RGD:1316288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 8702642 Dyrk1b dual specificity tyrosine phosphorylation regulated kinase 1B gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1316288 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 8702642 Dyrk1b dual specificity tyrosine phosphorylation regulated kinase 1B gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1316288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 8702642 Dyrk1b dual specificity tyrosine phosphorylation regulated kinase 1B gene DOID:1342 congenital hypoplastic anemia ISO RGD:1316288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 8702642 Dyrk1b dual specificity tyrosine phosphorylation regulated kinase 1B gene DOID:2661 myoepithelioma ISO RGD:1316288 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 8702642 Dyrk1b dual specificity tyrosine phosphorylation regulated kinase 1B gene DOID:630 genetic disease ISO RGD:1316288 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8702642 Dyrk1b dual specificity tyrosine phosphorylation regulated kinase 1B gene DOID:9002762 Ovarian Neoplasms ISO RGD:1316288 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20857490 8702642 Dyrk1b dual specificity tyrosine phosphorylation regulated kinase 1B gene DOID:9269 maple syrup urine disease ISO RGD:1316288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:28492532 8702642 Dyrk1b dual specificity tyrosine phosphorylation regulated kinase 1B gene DOID:9352 type 2 diabetes mellitus ISO RGD:1316288 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 8702681 Atf7 activating transcription factor 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312669 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8702681 Atf7 activating transcription factor 7 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1312669 D RGD:9068941 20200609 RGD PMID:26148593|REF_RGD_ID:11055686 8702700 Coq4 coenzyme Q4 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1312192 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935|PMID:34172529 8702700 Coq4 coenzyme Q4 gene DOID:0050952 spastic ataxia ISO RGD:1312192 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25658047|PMID:25741868|PMID:26185144|PMID:28492532|PMID:31967322|PMID:32718099|PMID:33704555|PMID:34440436|PMID:34445196|PMID:36047608|PMID:38013626 8702700 Coq4 coenzyme Q4 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1312192 D RGD:7240710 20180130 OMIM 8702700 Coq4 coenzyme Q4 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1312192 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:16199547|PMID:17576681|PMID:22368301|PMID:25658047|PMID:25741868|PMID:26185144|PMID:26795593|PMID:27513193|PMID:28492532|PMID:28540186|PMID:30109123|PMID:30659264|PMID:31325447|PMID:31332438|PMID:31396399|PMID:31440721|PMID:31967322|PMID:32056211|PMID:32718099|PMID:32860008|PMID:32907636|PMID:33206935|PMID:33215859|PMID:33677064|PMID:33704555|PMID:34440436|PMID:34445196|PMID:34656997|PMID:34992632|PMID:35598585|PMID:36047608|PMID:38013626|PMID:38014483|PMID:9536098 8702700 Coq4 coenzyme Q4 gene DOID:0080437 developmental and epileptic encephalopathy 31A ISO RGD:1312192 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:34172529 8702700 Coq4 coenzyme Q4 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1312192 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935|PMID:34172529 8702700 Coq4 coenzyme Q4 gene DOID:543 dystonia ISO RGD:1312192 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:28492532 8702700 Coq4 coenzyme Q4 gene DOID:630 genetic disease ISO RGD:1312192 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25658047|PMID:25741868|PMID:25954003|PMID:26185144|PMID:26795593|PMID:27513193|PMID:27618451|PMID:28490743|PMID:28492532|PMID:28540186|PMID:31967322|PMID:32056211|PMID:32718099|PMID:33677064|PMID:33704555|PMID:34440436|PMID:34445196|PMID:36047608|PMID:9536098 8702700 Coq4 coenzyme Q4 gene DOID:9006071 Spastic Ataxia 10, Autosomal Recessive ISO RGD:1312192 D RGD:7240710 20240124 OMIM 8702700 Coq4 coenzyme Q4 gene DOID:9006071 Spastic Ataxia 10, Autosomal Recessive ISO RGD:1312192 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Spastic ataxia 10, autosomal recessive PMID:17576681|PMID:25658047|PMID:25741868|PMID:26185144|PMID:28492532|PMID:30659264|PMID:31325447|PMID:31396399|PMID:31967322|PMID:32718099|PMID:33704555|PMID:34440436|PMID:34445196|PMID:34992632|PMID:35598585|PMID:36047608|PMID:38013626|PMID:38014483|PMID:9536098 8702700 Coq4 coenzyme Q4 gene DOID:9006534 Nervous System Malformations ISO RGD:1312192 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868|PMID:28492532|PMID:32860008|PMID:33215859|PMID:34656997|PMID:36047608 8702700 Coq4 coenzyme Q4 gene DOID:9008582 Developmental Disease ISO RGD:1312192 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868|PMID:32056211 8702712 Per2 period circadian regulator 2 gene DOID:0050628 advanced sleep phase syndrome ISO RGD:737181 D RGD:9068941 20200609 RGD familial advanced sleep-phase syndrome, OMIM:604348, DNA:point mutation:exon:S662G PMID:11232563|REF_RGD_ID:1600411 8702712 Per2 period circadian regulator 2 gene DOID:0050696 fetal alcohol spectrum disorder treatment ISO RGD:737181 D RGD:9068941 20240718 RGD PMID:31329297|REF_RGD_ID:405878078 8702712 Per2 period circadian regulator 2 gene DOID:0050741 alcohol dependence ISO RGD:737181 D RGD:9068941 20240711 RGD DNA, mRNA:hypermethylation, decreased expression:blood PMID:30597578|REF_RGD_ID:405878075 8702712 Per2 period circadian regulator 2 gene DOID:0050741 alcohol dependence ISO RGD:737181 D RGD:9068941 20240718 RGD DNA:hypermethylation:blood, promoter PMID:31329297|REF_RGD_ID:405878078 8702712 Per2 period circadian regulator 2 gene DOID:0060001 withdrawal disorder ISO RGD:737181 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20434889|PMID:20738730 8702712 Per2 period circadian regulator 2 gene DOID:0060041 autism spectrum disorder ISO RGD:737181 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8702712 Per2 period circadian regulator 2 gene DOID:0110011 advanced sleep phase syndrome 1 ISO RGD:737181 D RGD:7240710 20180130 OMIM 8702712 Per2 period circadian regulator 2 gene DOID:0110011 advanced sleep phase syndrome 1 ISO RGD:737181 D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: Advanced sleep phase syndrome 1 | ClinVar Annotator: match by term: PER2-related condition PMID:11232563|PMID:25741868|PMID:28492532 8702712 Per2 period circadian regulator 2 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:737181 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8702712 Per2 period circadian regulator 2 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:737181 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8702712 Per2 period circadian regulator 2 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:737181 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 8702712 Per2 period circadian regulator 2 gene DOID:1059 intellectual disability ISO RGD:737181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8702712 Per2 period circadian regulator 2 gene DOID:11718 antidepressant type abuse ISO RGD:62238 D RGD:9068941 20240627 RGD mRNA:increased expression, decreased expression:hippocampal formation, caudate-putamen (mouse) PMID:15994025|REF_RGD_ID:405866348 8702712 Per2 period circadian regulator 2 gene DOID:1574 alcohol use disorder ISO RGD:61945 D RGD:9068941 20241010 RGD mRNA:altered expression: arcuate nucleus of hypothalamus, suprachiasmatic nucleus PMID:15009656|REF_RGD_ID:407572515 8702712 Per2 period circadian regulator 2 gene DOID:809 cocaine abuse ISO RGD:62238 D RGD:9068941 20240627 RGD mRNA:increased expression, decreased expression:hippocampal formation, caudate-putamen (mouse) PMID:15994025|REF_RGD_ID:405866348 8702712 Per2 period circadian regulator 2 gene DOID:8552 chronic myeloid leukemia ISO RGD:737181 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16999817 8702712 Per2 period circadian regulator 2 gene DOID:9000499 Alcoholic Intoxication ISO RGD:737181 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15608650 8702712 Per2 period circadian regulator 2 gene DOID:9001234 Prenatal Exposure Delayed Effects ISO RGD:61945 D RGD:9068941 20240718 RGD associated with alcohol use disorder;mRNA:altered expression: arcuate nucleus of hypothalamus, suprachiasmatic nucleus PMID:16686691|REF_RGD_ID:405866367 8702712 Per2 period circadian regulator 2 gene DOID:9001550 Bethlem Myopathy 1A ISO RGD:737181 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1A PMID:26004199|PMID:28492532 8702712 Per2 period circadian regulator 2 gene DOID:9002735 alcohol withdrawal syndrome severity ISO RGD:737181 D RGD:9068941 20240302 RGD mRNA:decreased expression:Peripheral blood mononuclear cell (human) PMID:20735373|REF_RGD_ID:401976556 8702712 Per2 period circadian regulator 2 gene DOID:9005111 morphine withdrawal syndrome ameliorates ISO RGD:62238 D RGD:9068941 20240229 RGD PMID:20434889|REF_RGD_ID:401976532 8702712 Per2 period circadian regulator 2 gene DOID:9006302 Binge Drinking ISO RGD:737181 D RGD:9068941 20240711 RGD DNA, mRNA:hypermethylation, decreased expression:blood PMID:30597578|REF_RGD_ID:405878075 8702712 Per2 period circadian regulator 2 gene DOID:9975 cocaine dependence susceptibility ISO RGD:737181 D RGD:9068941 20240229 RGD DNA:repeats:: PMID:22832851|REF_RGD_ID:401976513 8702771 Hdac9 histone deacetylase 9 gene DOID:1936 atherosclerosis ISO RGD:1353912 D RGD:9068941 20230608 CTD CTD Direct Evidence: marker/mechanism PMID:36322813 8702771 Hdac9 histone deacetylase 9 gene DOID:3525 middle cerebral artery infarction ISO RGD:1310748 D RGD:9068941 20200609 RGD mRNA:increased expression:brain: PMID:23480850|REF_RGD_ID:9681449 8702771 Hdac9 histone deacetylase 9 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1353912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8702771 Hdac9 histone deacetylase 9 gene DOID:9006041 Osteoarthritis, Hip ISO RGD:1353912 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30374069 8702771 Hdac9 histone deacetylase 9 gene DOID:9006579 Auriculocondylar Syndrome 4 ISO RGD:1353912 D RGD:7240710 20230802 OMIM 8702771 Hdac9 histone deacetylase 9 gene DOID:9006579 Auriculocondylar Syndrome 4 ISO RGD:1353912 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Auriculocondylar syndrome 4 PMID:18000524|PMID:34750192 8702771 Hdac9 histone deacetylase 9 gene DOID:9007096 Stroke ISO RGD:1353912 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22306652 8702839 Tbl2 transducin beta like 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1354068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 8702839 Tbl2 transducin beta like 2 gene DOID:0080600 COVID-19 ISO RGD:1354068 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8702839 Tbl2 transducin beta like 2 gene DOID:10907 microcephaly ISO RGD:1354068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 8702839 Tbl2 transducin beta like 2 gene DOID:12849 autistic disorder ISO RGD:1354068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8702839 Tbl2 transducin beta like 2 gene DOID:1928 Williams-Beuren syndrome ISO RGD:1354068 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 8702839 Tbl2 transducin beta like 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1354068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8702839 Tbl2 transducin beta like 2 gene DOID:5419 schizophrenia ISO RGD:1354068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8702839 Tbl2 transducin beta like 2 gene DOID:8445 intestinal volvulus ISO RGD:1354068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 8702839 Tbl2 transducin beta like 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8702839 Tbl2 transducin beta like 2 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1354068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 8702856 Znf750 zinc finger protein 750 gene DOID:0070423 early onset progressive encephalopathy with brain atrophy and thin corpus callosum ISO RGD:1602862 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum PMID:25741868 8702856 Znf750 zinc finger protein 750 gene DOID:1827 generalized epilepsy ISO RGD:1602862 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:28492532 8702856 Znf750 zinc finger protein 750 gene DOID:9001638 Seborrhea-Like Dermatitis with Psoriasiform Elements ISO RGD:1602862 D RGD:7240710 20180130 OMIM 8702856 Znf750 zinc finger protein 750 gene DOID:9001638 Seborrhea-Like Dermatitis with Psoriasiform Elements ISO RGD:1602862 D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: Seborrhea-like dermatitis with psoriasiform elements | ClinVar Annotator: match by term: ZNF750-related condition PMID:16751772|PMID:25741868|PMID:28492532 8702863 Garnl3 GTPase activating Rap/RanGAP domain like 3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1346418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 8702863 Garnl3 GTPase activating Rap/RanGAP domain like 3 gene DOID:0080437 developmental and epileptic encephalopathy 31A ISO RGD:1346418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 8702863 Garnl3 GTPase activating Rap/RanGAP domain like 3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1346418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 8702863 Garnl3 GTPase activating Rap/RanGAP domain like 3 gene DOID:1059 intellectual disability ISO RGD:1346418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:30167849 8702923 Ss18l1 SS18L1 subunit of BAF chromatin remodeling complex gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1345361 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot disease PMID:25741868 8702957 Arpc1a actin related protein 2/3 complex subunit 1A gene DOID:1793 pancreatic cancer ISO RGD:1344294 D RGD:9068941 20200609 RGD DNA:amplification (human) PMID:19145645|REF_RGD_ID:2317557 8702957 Arpc1a actin related protein 2/3 complex subunit 1A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1344294 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8702957 Arpc1a actin related protein 2/3 complex subunit 1A gene DOID:5419 schizophrenia ISO RGD:1344294 D RGD:9068941 20200609 RGD protein:decreased expression:prefrontal cortex (human) PMID:15098003|REF_RGD_ID:11571619 8702971 Tmem120a transmembrane protein 120A gene DOID:0080925 cytochrome P450 oxidoreductase deficiency ISO RGD:1605325 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency PMID:25741868 8702971 Tmem120a transmembrane protein 120A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1605325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8702971 Tmem120a transmembrane protein 120A gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:1605325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 8702994 Abcc12 ATP binding cassette subfamily C member 12 gene DOID:0111041 glycogen storage disease IXB ISO RGD:1342698 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXb PMID:28492532 8702994 Abcc12 ATP binding cassette subfamily C member 12 gene DOID:4961 bone marrow disease ISO RGD:1342698 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18466103 8702994 Abcc12 ATP binding cassette subfamily C member 12 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1342698 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18466103 8703039 Numbl NUMB like endocytic adaptor protein gene DOID:0061010 craniosynostosis 1 ISO RGD:1316854 D RGD:8554872 20241203 ClinVar ClinVar Annotator: match by term: TWIST1-related craniosynostosis PMID:28492532 8703039 Numbl NUMB like endocytic adaptor protein gene DOID:0061099 Carpenter syndrome 2 ISO RGD:1316854 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 8703039 Numbl NUMB like endocytic adaptor protein gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1316854 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 8703039 Numbl NUMB like endocytic adaptor protein gene DOID:1342 congenital hypoplastic anemia ISO RGD:1316854 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 8703039 Numbl NUMB like endocytic adaptor protein gene DOID:9269 maple syrup urine disease ISO RGD:1316854 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:28492532 8703055 Polr1h RNA polymerase I subunit H gene DOID:11372 megacolon ISO RGD:1351679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8703055 Polr1h RNA polymerase I subunit H gene DOID:9000217 Stomach Neoplasms ISO RGD:1351679 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16609701 8703055 Polr1h RNA polymerase I subunit H gene DOID:9002170 Experimental Neoplasms ISO RGD:1351679 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16609701 8703103 Htr7 5-hydroxytryptamine receptor 7 gene DOID:0080000 muscular disease ISO RGD:1346949 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17600820 8703103 Htr7 5-hydroxytryptamine receptor 7 gene DOID:10914 amnestic disorder ISO RGD:71034 D RGD:9068941 20200609 RGD PMID:18570192|REF_RGD_ID:6482184 8703103 Htr7 5-hydroxytryptamine receptor 7 gene DOID:10933 obsessive-compulsive disorder ISO RGD:732164 D RGD:9068941 20200609 RGD PMID:17267119|REF_RGD_ID:6482188 8703103 Htr7 5-hydroxytryptamine receptor 7 gene DOID:1561 cognitive disorder ISO RGD:71034 D RGD:9068941 20200609 RGD PMID:21558435|REF_RGD_ID:6480666 8703103 Htr7 5-hydroxytryptamine receptor 7 gene DOID:1574 alcohol use disorder ISO RGD:1346949 D RGD:9068941 20211008 RGD DNA:SNP:intron: (rs7916403) (human) PMID:21184583|REF_RGD_ID:150429835 8703103 Htr7 5-hydroxytryptamine receptor 7 gene DOID:1596 depressive disorder ISO RGD:1346949 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21859099 8703103 Htr7 5-hydroxytryptamine receptor 7 gene DOID:1596 depressive disorder ISO RGD:732164 D RGD:9068941 20200609 RGD PMID:16828124|REF_RGD_ID:6482189 8703103 Htr7 5-hydroxytryptamine receptor 7 gene DOID:1825 childhood absence epilepsy ISO RGD:71034 D RGD:9068941 20200609 RGD PMID:15050708|REF_RGD_ID:6480686 8703103 Htr7 5-hydroxytryptamine receptor 7 gene DOID:1826 epilepsy ISO RGD:732164 D RGD:9068941 20200609 RGD PMID:17485199|REF_RGD_ID:6482190 8703103 Htr7 5-hydroxytryptamine receptor 7 gene DOID:2030 anxiety disorder ISO RGD:1346949 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21859099 8703103 Htr7 5-hydroxytryptamine receptor 7 gene DOID:2030 anxiety disorder ISO RGD:71034 D RGD:9068941 20200609 RGD PMID:16828124|REF_RGD_ID:6482189 8703103 Htr7 5-hydroxytryptamine receptor 7 gene DOID:2030 anxiety disorder ISO RGD:732164 D RGD:9068941 20200609 RGD PMID:16828124|REF_RGD_ID:6482189 8703103 Htr7 5-hydroxytryptamine receptor 7 gene DOID:535 sleep disorder ISO RGD:1346949 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21859099 8703103 Htr7 5-hydroxytryptamine receptor 7 gene DOID:5419 schizophrenia ISO RGD:1346949 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12165372 8703103 Htr7 5-hydroxytryptamine receptor 7 gene DOID:6364 migraine ISO RGD:71034 D RGD:9068941 20200609 RGD PMID:20236348|REF_RGD_ID:6482182 8703103 Htr7 5-hydroxytryptamine receptor 7 gene DOID:8927 learning disability ISO RGD:1346949 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21859099 8703103 Htr7 5-hydroxytryptamine receptor 7 gene DOID:9000641 Pain ISO RGD:1346949 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17600820 8703103 Htr7 5-hydroxytryptamine receptor 7 gene DOID:9000998 Brain Injuries ISO RGD:71034 D RGD:9068941 20200609 RGD PMID:22465320|REF_RGD_ID:6482178 8703103 Htr7 5-hydroxytryptamine receptor 7 gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:71034 D RGD:9068941 20200609 RGD protein:decreased expression: : PMID:21693130|REF_RGD_ID:6480665 8703103 Htr7 5-hydroxytryptamine receptor 7 gene DOID:9002211 Hyperalgesia ISO RGD:71034 D RGD:9068941 20200609 RGD PMID:21693130|PMID:21843960|REF_RGD_ID:6480665|REF_RGD_ID:6482179 8703103 Htr7 5-hydroxytryptamine receptor 7 gene DOID:9002362 Hyperkinesis ISO RGD:732164 D RGD:9068941 20200609 RGD PMID:18332680|REF_RGD_ID:6482186 8703103 Htr7 5-hydroxytryptamine receptor 7 gene DOID:9008023 Memory Disorders ISO RGD:1346949 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21859099 8703103 Htr7 5-hydroxytryptamine receptor 7 gene DOID:9778 irritable bowel syndrome ISO RGD:71034 D RGD:9068941 20200609 RGD protein:increased expression:brain, intestine PMID:18167178|REF_RGD_ID:6480673 8703124 Crtc3 CREB regulated transcription coactivator 3 gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1604314 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:17407155|PMID:28492532 8703124 Crtc3 CREB regulated transcription coactivator 3 gene DOID:10283 prostate cancer ISO RGD:1604314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8703124 Crtc3 CREB regulated transcription coactivator 3 gene DOID:2717 Bloom syndrome ISO RGD:1604314 D RGD:8554872 20240716 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:17407155|PMID:28492532 8703124 Crtc3 CREB regulated transcription coactivator 3 gene DOID:9256 colorectal cancer ISO RGD:1604314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8703174 Cmtm4 CKLF like MARVEL transmembrane domain containing 4 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1320683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8703174 Cmtm4 CKLF like MARVEL transmembrane domain containing 4 gene DOID:0110255 cataract 5 multiple types ISO RGD:1320683 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 8703174 Cmtm4 CKLF like MARVEL transmembrane domain containing 4 gene DOID:9008870 Chromosome 16q12 Duplication Syndrome ISO RGD:1320683 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome PMID:25741868 8703205 Ilrun inflammation and lipid regulator with UBA-like and NBR1-like domains gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1601978 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8703235 Sall1 spalt like transcription factor 1 gene DOID:0050678 Blau syndrome ISO RGD:1320515 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Blau syndrome PMID:28492532 8703235 Sall1 spalt like transcription factor 1 gene DOID:0050887 Townes-Brocks syndrome ISO RGD:1320515 D RGD:7240710 20180130 OMIM 8703235 Sall1 spalt like transcription factor 1 gene DOID:0050887 Townes-Brocks syndrome ISO RGD:1320515 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: SALL1-related condition | ClinVar Annotator: match by term: Townes syndrome | ClinVar Annotator: match by term: Townes-Brocks syndrome | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar Annotator: match by term: Townes-Brocks-branchiootorenal-like syndrome PMID:10533063|PMID:10819639|PMID:10928856|PMID:11102974|PMID:11478532|PMID:11484202|PMID:12915476|PMID:14627694|PMID:14755477|PMID:16088922|PMID:16429401|PMID:16971658|PMID:17221874|PMID:17431915|PMID:17576681|PMID:18000979|PMID:19005989|PMID:19429598|PMID:20301618|PMID:22308078|PMID:23069192|PMID:23894113|PMID:24429398|PMID:25336016|PMID:25741868|PMID:25741886|PMID:26380986|PMID:26467025|PMID:26489027|PMID:27073431|PMID:27657687|PMID:28492532|PMID:29395072|PMID:29758562|PMID:30143558|PMID:30311386|PMID:30655312|PMID:32656166|PMID:36474027|PMID:8133838|PMID:9425907|PMID:9536098|PMID:9973281 8703235 Sall1 spalt like transcription factor 1 gene DOID:0080205 CAKUT ISO RGD:1320515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:25741868|PMID:28492532|PMID:30143558 8703235 Sall1 spalt like transcription factor 1 gene DOID:0111122 nephronophthisis 14 ISO RGD:1320515 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Nephronophthisis 14 PMID:12915476|PMID:16088922|PMID:16429401|PMID:22308078|PMID:23069192|PMID:25336016|PMID:28492532|PMID:9973281 8703235 Sall1 spalt like transcription factor 1 gene DOID:0111766 X-linked VACTERL association ISO RGD:1320515 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: VACTERL-H PMID:24429398|PMID:25741868|PMID:28492532 8703235 Sall1 spalt like transcription factor 1 gene DOID:10907 microcephaly ISO RGD:1320515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 8703235 Sall1 spalt like transcription factor 1 gene DOID:14766 renal agenesis ISO RGD:1320516 D RGD:9068941 20221103 RGD PMID:11688560|REF_RGD_ID:155641230 8703235 Sall1 spalt like transcription factor 1 gene DOID:2810 middle lobe syndrome ISO RGD:1320515 D RGD:9068941 20200609 RGD Townes-Brocks syndrome. OMIM:602218 PMID:11102974|PMID:16088922|REF_RGD_ID:1599551|REF_RGD_ID:1599553 8703235 Sall1 spalt like transcription factor 1 gene DOID:5176 renal Wilms' tumor ISO RGD:1320515 D RGD:9068941 20221103 RGD human tumor in mouse model PMID:18467665|REF_RGD_ID:155631277 8703235 Sall1 spalt like transcription factor 1 gene DOID:630 genetic disease ISO RGD:1320515 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8703235 Sall1 spalt like transcription factor 1 gene DOID:687 hepatoblastoma ISO RGD:1320515 D RGD:9068941 20200609 RGD embryonal subtype;protein:increased expression:liver, nucleus (human) PMID:23822878|REF_RGD_ID:11556217 8703235 Sall1 spalt like transcription factor 1 gene DOID:784 chronic kidney disease treatment ISO RGD:1320515 D RGD:9068941 20221103 RGD human cells in rat model PMID:33298161|REF_RGD_ID:155631310 8703235 Sall1 spalt like transcription factor 1 gene DOID:9004452 Townes-Brocks-Branchiootorenal-Like Syndrome ISO RGD:1320515 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Townes-Brocks-branchiootorenal-like syndrome PMID:10928856|PMID:14755477|PMID:16088922|PMID:23069192|PMID:28492532|PMID:9973281 8703235 Sall1 spalt like transcription factor 1 gene DOID:9004994 Embryo Loss ISO RGD:1320516 D RGD:9068941 20221103 RGD PMID:11688560|REF_RGD_ID:155641230 8703235 Sall1 spalt like transcription factor 1 gene DOID:9005835 Congenital Abnormalities ISO RGD:1320515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20127799 8703235 Sall1 spalt like transcription factor 1 gene DOID:9006294 Congenital Limb Deformities ISO RGD:1320515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16088922|PMID:9425907 8703235 Sall1 spalt like transcription factor 1 gene DOID:9007653 Multiple Abnormalities ISO RGD:1320515 D RGD:9068941 20200609 RGD Townes-Brocks syndrome. OMIM:602218 PMID:11102974|PMID:16088922|REF_RGD_ID:1599551|REF_RGD_ID:1599553 8703235 Sall1 spalt like transcription factor 1 gene DOID:9008870 Chromosome 16q12 Duplication Syndrome ISO RGD:1320515 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome PMID:25741868 8703255 Gprasp1 G protein-coupled receptor associated sorting protein 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8703255 Gprasp1 G protein-coupled receptor associated sorting protein 1 gene DOID:0111823 autosomal hemophilia A ISO RGD:1349786 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A PMID:31690835 8703255 Gprasp1 G protein-coupled receptor associated sorting protein 1 gene DOID:1059 intellectual disability ISO RGD:1349786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8703255 Gprasp1 G protein-coupled receptor associated sorting protein 1 gene DOID:12134 factor VIII deficiency ISO RGD:1349786 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Factor 8 deficiency, congenital PMID:31690835 8703255 Gprasp1 G protein-coupled receptor associated sorting protein 1 gene DOID:12849 autistic disorder ISO RGD:1349786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8703255 Gprasp1 G protein-coupled receptor associated sorting protein 1 gene DOID:630 genetic disease ISO RGD:1349786 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8703262 Ciroz ciliated left-right organizer protein containing ZP-N domains gene DOID:0050144 Kartagener syndrome ISO RGD:1617356 D RGD:9068941 20220825 MouseDO 8703262 Ciroz ciliated left-right organizer protein containing ZP-N domains gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1606706 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 8703262 Ciroz ciliated left-right organizer protein containing ZP-N domains gene DOID:0050545 visceral heterotaxy ISO RGD:1617356 D RGD:9068941 20220825 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 8703262 Ciroz ciliated left-right organizer protein containing ZP-N domains gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1606706 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8703262 Ciroz ciliated left-right organizer protein containing ZP-N domains gene DOID:0111936 immunodeficiency 14 ISO RGD:1606706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 14 PMID:28492532 8703262 Ciroz ciliated left-right organizer protein containing ZP-N domains gene DOID:9006158 Peroxisome Biogenesis Disorder, Complementation Group K ISO RGD:1606706 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group K PMID:28492532 8703262 Ciroz ciliated left-right organizer protein containing ZP-N domains gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:1606706 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 8703262 Ciroz ciliated left-right organizer protein containing ZP-N domains gene DOID:9009285 visceral heterotaxy 14 ISO RGD:1606706 D RGD:7240710 20250205 OMIM 8703262 Ciroz ciliated left-right organizer protein containing ZP-N domains gene DOID:9562 primary ciliary dyskinesia ISO RGD:1617356 D RGD:9068941 20220825 MouseDO 8703281 Slc7a4 solute carrier family 7 member 4 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1314214 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 8703281 Slc7a4 solute carrier family 7 member 4 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1314214 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:25741868|PMID:31690835 8703281 Slc7a4 solute carrier family 7 member 4 gene DOID:1059 intellectual disability ISO RGD:1314214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8703281 Slc7a4 solute carrier family 7 member 4 gene DOID:11198 DiGeorge syndrome ISO RGD:1314214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:31690835|PMID:32581362 8703281 Slc7a4 solute carrier family 7 member 4 gene DOID:11372 megacolon ISO RGD:1314214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8703281 Slc7a4 solute carrier family 7 member 4 gene DOID:12583 velocardiofacial syndrome ISO RGD:1314214 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 8703281 Slc7a4 solute carrier family 7 member 4 gene DOID:12849 autistic disorder ISO RGD:1314214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8703281 Slc7a4 solute carrier family 7 member 4 gene DOID:1826 epilepsy ISO RGD:1314214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8703281 Slc7a4 solute carrier family 7 member 4 gene DOID:5419 schizophrenia ISO RGD:1314214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8703281 Slc7a4 solute carrier family 7 member 4 gene DOID:612 primary immunodeficiency disease ISO RGD:1314214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 8703281 Slc7a4 solute carrier family 7 member 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8703293 Rgs7bp regulator of G protein signaling 7 binding protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604905 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:0050573 2-hydroxyglutaric aciduria ISO RGD:1313391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27469509 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:0050575 D-2-hydroxyglutaric aciduria treatment ISO RGD:1557355 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.R140Q(mouse) PMID:27469509|REF_RGD_ID:13506812 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:0050749 peripheral T-cell lymphoma ISO RGD:1313391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24413734|PMID:24413737 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1313391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myelodysplastic syndromes PMID:20171147|PMID:20847235|PMID:20946881|PMID:21250968|PMID:21596855|PMID:21889589|PMID:21997850|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22616558|PMID:22898539|PMID:23558173|PMID:23815907|PMID:23949315|PMID:24049096|PMID:24606448|PMID:25157968|PMID:25326635|PMID:25398939|PMID:25741868|PMID:26619011|PMID:28166811|PMID:28492532 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1313391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26285909 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:0080005 bone remodeling disease ISO RGD:1557355 D RGD:9068941 20220825 MouseDO 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease severity ISO RGD:1557355 D RGD:9068941 20200609 RGD PMID:29861476|REF_RGD_ID:14985251 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease susceptibility ISO RGD:1557355 D RGD:9068941 20200609 RGD PMID:31064654|REF_RGD_ID:14985252 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:0080547 metabolic dysfunction-associated steatohepatitis ameliorates ISO RGD:1557355 D RGD:9068941 20210730 RGD PMID:28415887|REF_RGD_ID:14985253 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1313391 D RGD:7240710 20190918 OMIM 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1313391 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 | ClinVar Annotator: match by term: IDH2-related condition PMID:16199547|PMID:17407155|PMID:17576681|PMID:18414213|PMID:20171147|PMID:20847235|PMID:21647154|PMID:21889589|PMID:23558173|PMID:23949315|PMID:24049096|PMID:24589777|PMID:25326635|PMID:25398939|PMID:25741868|PMID:28492532|PMID:30975432|PMID:34641967|PMID:9536098 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:10534 stomach cancer ISO RGD:1313391 D RGD:9068941 20210723 RGD protein:decreased expression:stomach (human) PMID:27466503|REF_RGD_ID:149735569 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:10534 stomach cancer disease_progression ISO RGD:1313391 D RGD:9068941 20210730 RGD protein:decreased expression:stomach (human) PMID:25098926|REF_RGD_ID:149735841 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:1074 kidney failure ISO RGD:1313391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27469509 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:11111 hydronephrosis ISO RGD:1313391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27469509 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:11476 osteoporosis ISO RGD:1313391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1313391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27469509 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:1324 lung cancer ISO RGD:1313391 D RGD:9068941 20210723 RGD PMID:30128035|REF_RGD_ID:149735564 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:1824 status epilepticus ISO RGD:1597139 D RGD:9068941 20200609 RGD protein:increased acetylation:hippocampus PMID:29778462|REF_RGD_ID:14985255 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:2256 osteochondrodysplasia ISO RGD:1313391 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Dyschondroplasia PMID:18414213|PMID:25741868|PMID:28492532 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:255 hemangioma ISO RGD:1313391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22057234 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:2602 chondroma ISO RGD:1313391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22057234|PMID:25895133 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:2717 Bloom syndrome ISO RGD:1313391 D RGD:8554872 20240716 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:17407155|PMID:28492532 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:3181 oligodendroglioma ISO RGD:1313391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20160062 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:3307 teratoma ISO RGD:1313391 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:331 central nervous system disease ISO RGD:1313391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27469509 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:3748 esophagus squamous cell carcinoma severity ISO RGD:1313391 D RGD:9068941 20210723 RGD human cells in mouse model PMID:32367071|REF_RGD_ID:149735568 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1313391 D RGD:9068941 20210723 RGD protein:increased expression:lung (human) PMID:30128035|REF_RGD_ID:149735564 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:3907 lung squamous cell carcinoma severity ISO RGD:1313391 D RGD:9068941 20210723 RGD protein:increased expression:blood serum (human) PMID:29465809|REF_RGD_ID:149735567 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:3907 lung squamous cell carcinoma susceptibility ISO RGD:1313391 D RGD:9068941 20210723 RGD DNA:SNP:CD: (rs11540478) C>T (human) PMID:27649069|REF_RGD_ID:149735566 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:1313391 D RGD:9068941 20210820 RGD DNA:SNP: (rs11540478) (human) PMID:25576295|REF_RGD_ID:150340558 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:3910 lung adenocarcinoma ISO RGD:1313391 D RGD:9068941 20210723 RGD protein:increased expression:lung (human) PMID:30128035|REF_RGD_ID:149735564 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:3910 lung adenocarcinoma severity ISO RGD:1313391 D RGD:9068941 20210723 RGD protein:increased expression:blood serum (human) PMID:29465809|REF_RGD_ID:149735567 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:4624 Ollier disease ISO RGD:1313391 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Enchondromatosis | ClinVar Annotator: match by term: Multiple enchondromatosis PMID:18414213|PMID:25741868|PMID:28492532 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:4928 intrahepatic cholangiocarcinoma ISO RGD:1557355 D RGD:9068941 20210730 RGD mRNA:decreased expression:liver (mouse) PMID:32463951|REF_RGD_ID:149735894 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:4928 intrahepatic cholangiocarcinoma disease_progression ISO RGD:1313391 D RGD:9068941 20200609 RGD DNA:mutations: : PMID:22824796|REF_RGD_ID:14985256 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:4947 cholangiocarcinoma ISO RGD:1313391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24185509 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:5016 hepatocellular clear cell carcinoma disease_progression ISO RGD:1313391 D RGD:9068941 20200609 RGD DNA:polymorphism: :rs11632348(human) PMID:25355558|REF_RGD_ID:14974228 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:630 genetic disease ISO RGD:1313391 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20171147|PMID:20847235|PMID:21647154|PMID:21889589|PMID:23558173|PMID:23949315|PMID:24049096|PMID:24589777|PMID:25326635|PMID:25398939|PMID:25741868|PMID:28492532|PMID:34641967 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1313391 D RGD:9068941 20200609 RGD PMID:24716838|REF_RGD_ID:14985249 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:8398 osteoarthritis ISO RGD:1313391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:1313391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27469509 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9002159 Liver Reperfusion Injury severity ISO RGD:1557355 D RGD:9068941 20200609 RGD PMID:28938192|REF_RGD_ID:14985248 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9003191 Vascular Malformations ISO RGD:1313391 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Vascular malformation 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9003936 Cardiomegaly ISO RGD:1313391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27469509 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9004253 Immunoblastic Lymphadenopathy ISO RGD:1313391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24413737 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1313391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26285909 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9006205 Animal Disease Models ISO RGD:1313391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27469509 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9006257 Growth Disorders ISO RGD:1313391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27469509 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9006646 Metabolic Syndrome susceptibility ISO RGD:1557355 D RGD:9068941 20200609 RGD PMID:31064654|REF_RGD_ID:14985252 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury severity ISO RGD:1557355 D RGD:9068941 20200609 RGD PMID:31121248|REF_RGD_ID:14985250 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1313391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27469509 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1313391 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:20171147|PMID:20847235|PMID:20946881|PMID:21250968|PMID:21596855|PMID:21889589|PMID:21997850|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22616558|PMID:22898539|PMID:23558173|PMID:23815907|PMID:23949315|PMID:24049096|PMID:24606448|PMID:25157968|PMID:25326635|PMID:25741868|PMID:26619011|PMID:28492532 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1313391 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.R140 (human) PMID:25324972|REF_RGD_ID:11522721 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1313391 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.R172(human) PMID:20368543|REF_RGD_ID:11522718 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9256 colorectal cancer ISO RGD:1313391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9408 acute myocardial infarction ISO RGD:1313391 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Acute myocardial infarction 8703320 Srsf4 serine and arginine rich splicing factor 4 gene DOID:14250 Down syndrome ISO RGD:1350526 D RGD:9068941 20200609 RGD protein:increased expression:amniotic fluid (human) PMID:16847874|REF_RGD_ID:11039402 8703320 Srsf4 serine and arginine rich splicing factor 4 gene DOID:234 colon adenocarcinoma ISO RGD:1350526 D RGD:9068941 20200609 RGD mRNA:decreased expression:colon mucosa (human) PMID:9865741|REF_RGD_ID:11039405 8703320 Srsf4 serine and arginine rich splicing factor 4 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1350526 D RGD:9068941 20200609 RGD mRNA:altered expression:kidney (human) PMID:21082031|REF_RGD_ID:11039407 8703320 Srsf4 serine and arginine rich splicing factor 4 gene DOID:9119 acute myeloid leukemia ISO RGD:1350526 D RGD:9068941 20200609 RGD mRNA:decreased expression: (human) PMID:22722453|REF_RGD_ID:11039059 8703342 Haus2 HAUS augmin like complex subunit 2 gene DOID:2717 Bloom syndrome ISO RGD:1321425 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8703342 Haus2 HAUS augmin like complex subunit 2 gene DOID:9256 colorectal cancer ISO RGD:1321425 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8703441 Mtmr2 myotubularin related protein 2 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1323545 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 PMID:10802647|PMID:11335693|PMID:11354824|PMID:12398840|PMID:16199547|PMID:17576681|PMID:20981092|PMID:25025039|PMID:25640679|PMID:25741868|PMID:26467025|PMID:27582484|PMID:27884173|PMID:28492532|PMID:32214227|PMID:32376792|PMID:9536098 8703441 Mtmr2 myotubularin related protein 2 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1323545 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 PMID:10802647|PMID:11335693|PMID:11354824|PMID:12045210|PMID:12398840|PMID:14530412|PMID:16199547|PMID:17576681|PMID:17973976|PMID:20981092|PMID:25025039|PMID:25640679|PMID:25741868|PMID:26467025|PMID:27582484|PMID:27884173|PMID:28492532|PMID:32214227|PMID:32376792|PMID:8190646|PMID:9536098 8703441 Mtmr2 myotubularin related protein 2 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1323545 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 PMID:10802647|PMID:10856930|PMID:11283303|PMID:11335693|PMID:11354824|PMID:12045210|PMID:12398840|PMID:12668758|PMID:12925573|PMID:14530412|PMID:16162938|PMID:16199547|PMID:17576681|PMID:17973976|PMID:19587293|PMID:20410104|PMID:20981092|PMID:25025039|PMID:25640679|PMID:25741868|PMID:26467025|PMID:27582484|PMID:27884173|PMID:28492532|PMID:32214227|PMID:32376792|PMID:32657593|PMID:8190646|PMID:9536098 8703441 Mtmr2 myotubularin related protein 2 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1323545 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy PMID:10802647|PMID:10856930|PMID:11283303|PMID:11335693|PMID:11354824|PMID:12045210|PMID:12398840|PMID:12668758|PMID:12925573|PMID:14530412|PMID:16162938|PMID:16199547|PMID:17576681|PMID:17973976|PMID:19587293|PMID:20410104|PMID:20981092|PMID:25025039|PMID:25640679|PMID:25741868|PMID:26467025|PMID:27582484|PMID:27884173|PMID:28492532|PMID:31070812|PMID:31680794|PMID:32214227|PMID:32376792|PMID:32657593|PMID:8190646|PMID:9536098 8703441 Mtmr2 myotubularin related protein 2 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1323545 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 PMID:10802647|PMID:10856930|PMID:11283303|PMID:11335693|PMID:11354824|PMID:12045210|PMID:12398840|PMID:12668758|PMID:12925573|PMID:14530412|PMID:16162938|PMID:16199547|PMID:17576681|PMID:17973976|PMID:19587293|PMID:20410104|PMID:20981092|PMID:25025039|PMID:25640679|PMID:25741868|PMID:26467025|PMID:27582484|PMID:27884173|PMID:28492532|PMID:29590070|PMID:31070812|PMID:31680794|PMID:32214227|PMID:32376792|PMID:32657593|PMID:8190646|PMID:9536098 8703441 Mtmr2 myotubularin related protein 2 gene DOID:0080142 mosaic variegated aneuploidy syndrome 2 ISO RGD:1323545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 2 PMID:28492532 8703441 Mtmr2 myotubularin related protein 2 gene DOID:0110191 Charcot-Marie-Tooth disease type 4B1 ISO RGD:1323545 D RGD:7240710 20180130 OMIM 8703441 Mtmr2 myotubularin related protein 2 gene DOID:0110191 Charcot-Marie-Tooth disease type 4B1 ISO RGD:1323545 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4B1 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B1 PMID:10802647|PMID:11354824|PMID:12398840|PMID:16199547|PMID:17576681|PMID:20301641|PMID:20981092|PMID:25741868|PMID:26467025|PMID:27582484|PMID:27884173|PMID:28492532|PMID:29590070|PMID:31070812|PMID:31680794|PMID:32214227|PMID:32376792|PMID:39825153|PMID:9536098 8703441 Mtmr2 myotubularin related protein 2 gene DOID:1059 intellectual disability ISO RGD:1323545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8703441 Mtmr2 myotubularin related protein 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1323545 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10802647|PMID:11335693|PMID:11354824|PMID:12045210|PMID:12398840|PMID:14530412|PMID:15469949|PMID:15505184|PMID:17973976|PMID:20981092|PMID:23781969|PMID:25025039|PMID:25231362|PMID:25741868|PMID:26467025|PMID:27582484|PMID:28492532|PMID:29590070|PMID:32376792 8703441 Mtmr2 myotubularin related protein 2 gene DOID:12704 ataxia telangiectasia ISO RGD:1323545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 8703441 Mtmr2 myotubularin related protein 2 gene DOID:630 genetic disease ISO RGD:1323545 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10802647|PMID:10856930|PMID:11283303|PMID:12668758|PMID:12925573|PMID:14530412|PMID:15998640|PMID:16162938|PMID:17576681|PMID:19587293|PMID:20410104|PMID:25741868|PMID:26467025|PMID:27582484|PMID:28492532|PMID:29590070|PMID:31070812|PMID:31680794|PMID:32376792|PMID:32657593|PMID:9536098 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0050861 colorectal adenocarcinoma ISO RGD:1323005 D RGD:9068941 20221020 RGD mRNA:decreased expression:colorectum (human) PMID:22966016|REF_RGD_ID:155598682 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0060041 autism spectrum disorder ISO RGD:1323005 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Autism spectrum disorders PMID:18414213|PMID:26076356|PMID:26197979 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0060058 lymphoma susceptibility ISO RGD:1622854 D RGD:9068941 20200609 RGD PMID:11238917|REF_RGD_ID:11567233 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0060240 UV-sensitive syndrome ISO RGD:1323005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26972010 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0080199 colorectal carcinoma treatment ISO RGD:1323005 D RGD:9068941 20221006 RGD human cell line in a mouse model PMID:28665687|REF_RGD_ID:155260341 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0080868 primary ovarian insufficiency 11 ISO RGD:1323005 D RGD:7240710 20250212 OMIM 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0080868 primary ovarian insufficiency 11 ISO RGD:1323005 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 11 PMID:10196384|PMID:10447254|PMID:10767341|PMID:11809892|PMID:1339317|PMID:16199547|PMID:18414213|PMID:18628313|PMID:18784753|PMID:19894250|PMID:21143350|PMID:21228398|PMID:22661500|PMID:22904069|PMID:23311583|PMID:24033266|PMID:24154677|PMID:25136123|PMID:25326635|PMID:25741868|PMID:25820262|PMID:26218421|PMID:27004399|PMID:27186691|PMID:27356891|PMID:28492532|PMID:29572252|PMID:30111349|PMID:31130284|PMID:32453336|PMID:32496904|PMID:32504035|PMID:32557569|PMID:32853555|PMID:34052969|PMID:38177409|PMID:887325|PMID:9150142|PMID:9443879 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:1323005 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:25741868|PMID:28492532 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0080907 Cockayne syndrome A ISO RGD:1323005 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Cockayne syndrome type I PMID:18628313|PMID:25741868|PMID:27004399|PMID:28492532|PMID:29572252 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0080908 Cockayne syndrome B ISO RGD:1323005 D RGD:7240710 20250212 OMIM 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0080908 Cockayne syndrome B ISO RGD:1323005 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Cockayne Syndrome, Type II | ClinVar Annotator: match by term: Cockayne syndrome B PMID:10196384|PMID:10447254|PMID:10767341|PMID:11809892|PMID:1339317|PMID:15486090|PMID:16199547|PMID:17576681|PMID:18414213|PMID:18446857|PMID:18628313|PMID:18784753|PMID:19894250|PMID:20122405|PMID:20456449|PMID:21143350|PMID:21228398|PMID:22466610|PMID:22483866|PMID:22661500|PMID:22904069|PMID:23311583|PMID:23422418|PMID:23428416|PMID:24033266|PMID:24154677|PMID:25026993|PMID:25136123|PMID:25251875|PMID:25326635|PMID:25356239|PMID:25741868|PMID:25820262|PMID:26076356|PMID:26197979|PMID:26206375|PMID:26749132|PMID:27004399|PMID:27356891|PMID:28170084|PMID:28440418|PMID:28492532|PMID:29203878|PMID:29572252|PMID:29915382|PMID:29944916|PMID:29955172|PMID:30111349|PMID:30842647|PMID:31130284|PMID:31501894|PMID:32453336|PMID:32496904|PMID:32504035|PMID:32557569|PMID:32853555|PMID:32860008|PMID:34052969|PMID:35135151|PMID:36099812|PMID:38177409|PMID:7063265|PMID:7264357|PMID:887325|PMID:9150142|PMID:9443879|PMID:9536098|PMID:9777763 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0080910 cerebrooculofacioskeletal syndrome ISO RGD:1323005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: COFS syndrome | ClinVar Annotator: match by term: Cerebrooculofacioskeletal Syndrome PMID:18414213|PMID:25741868|PMID:28492532 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0080911 cerebrooculofacioskeletal syndrome 1 ISO RGD:1323005 D RGD:7240710 20250212 OMIM 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0080911 cerebrooculofacioskeletal syndrome 1 ISO RGD:1323005 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: CEREBROOCULOFACIOSKELETAL SYNDROME 1 | ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 1 | ClinVar Annotator: match by term: PENA-SHOKEIR SYNDROME, TYPE II PMID:10196384|PMID:10447254|PMID:10739753|PMID:10767341|PMID:11809892|PMID:1339317|PMID:16199547|PMID:17576681|PMID:18414213|PMID:18628313|PMID:18784753|PMID:19894250|PMID:20122405|PMID:20456449|PMID:21143350|PMID:21228398|PMID:22661500|PMID:22904069|PMID:23311583|PMID:23422418|PMID:23428416|PMID:24033266|PMID:24154677|PMID:25026993|PMID:25136123|PMID:25326635|PMID:25356239|PMID:25741868|PMID:25820262|PMID:26206375|PMID:27004399|PMID:27356891|PMID:28170084|PMID:28440418|PMID:28492532|PMID:29203878|PMID:29572252|PMID:29915382|PMID:30111349|PMID:31130284|PMID:31501894|PMID:32453336|PMID:32496904|PMID:32504035|PMID:32557569|PMID:32853555|PMID:34052969|PMID:35135151|PMID:36099812|PMID:38177409|PMID:7063265|PMID:887325|PMID:9150142|PMID:9443879|PMID:9536098 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0080954 arthrogryposis multiplex congenita ISO RGD:1323005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18628313 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0110028 age related macular degeneration 5 ISO RGD:1323005 D RGD:7240710 20250212 OMIM 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0110028 age related macular degeneration 5 ISO RGD:1323005 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Age related macular degeneration 5 PMID:10196384|PMID:10447254|PMID:10767341|PMID:11809892|PMID:1339317|PMID:16199547|PMID:16754848|PMID:17576681|PMID:17854076|PMID:18414213|PMID:18628313|PMID:18784753|PMID:19894250|PMID:21143350|PMID:21228398|PMID:22661500|PMID:22904069|PMID:23311583|PMID:23422418|PMID:24033266|PMID:24154677|PMID:25026993|PMID:25136123|PMID:25326635|PMID:25741868|PMID:25820262|PMID:27004399|PMID:27356891|PMID:28492532|PMID:29572252|PMID:30111349|PMID:31130284|PMID:32453336|PMID:32496904|PMID:32504035|PMID:32557569|PMID:32853555|PMID:34052969|PMID:35135151|PMID:36099812|PMID:38177409|PMID:887325|PMID:9150142|PMID:9443879|PMID:9536098 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0112158 De Sanctis-Cacchione syndrome ISO RGD:1323005 D RGD:7240710 20250212 OMIM 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0112158 De Sanctis-Cacchione syndrome ISO RGD:1323005 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: DE SANCTIS-CACCHIONE SYNDROME PMID:10196384|PMID:10447254|PMID:10767341|PMID:11809892|PMID:1339317|PMID:16199547|PMID:17576681|PMID:18414213|PMID:18628313|PMID:18784753|PMID:19894250|PMID:20122405|PMID:20456449|PMID:21143350|PMID:21228398|PMID:22661500|PMID:22904069|PMID:23311583|PMID:23422418|PMID:23428416|PMID:24033266|PMID:24154677|PMID:25136123|PMID:25326635|PMID:25356239|PMID:25463447|PMID:25741868|PMID:25820262|PMID:26206375|PMID:26218421|PMID:26620705|PMID:27004399|PMID:27186691|PMID:27356891|PMID:28170084|PMID:28440418|PMID:28492532|PMID:29203878|PMID:29572252|PMID:29915382|PMID:30111349|PMID:31130284|PMID:31501894|PMID:32453336|PMID:32496904|PMID:32504035|PMID:32557569|PMID:32853555|PMID:32868804|PMID:33904453|PMID:34005834|PMID:34052969|PMID:34853308|PMID:38177409|PMID:7063265|PMID:887325|PMID:9150142|PMID:9443879|PMID:9536098 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:10003 sensorineural hearing loss ISO RGD:1622854 D RGD:9068941 20200609 RGD PMID:25762674|REF_RGD_ID:11567237 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:10534 stomach cancer exacerbates ISO RGD:1323005 D RGD:9068941 20221006 RGD DNA:SNP:enhancer: (rs1917799) (human) PMID:27340861|REF_RGD_ID:155260339 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:10534 stomach cancer exacerbates ISO RGD:1323005 D RGD:9068941 20221006 RGD mRNA:increased expression:stomach (human) PMID:30417012|REF_RGD_ID:155260342 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:10629 microphthalmia ISO RGD:1323005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10739753 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:10907 microcephaly ISO RGD:1323005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10739753|PMID:18628313 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:11372 megacolon ISO RGD:1323005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:1324 lung cancer ISO RGD:1323005 D RGD:7240710 20250212 OMIM 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:1324 lung cancer ISO RGD:1323005 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: LUNG CANCER, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Lung cancer | ClinVar Annotator: match by term: Lung cancer, somatic PMID:10767341|PMID:16754848|PMID:17854076|PMID:18414213|PMID:18628313|PMID:19894250|PMID:21228398|PMID:22661500|PMID:22904069|PMID:25136123|PMID:25326635|PMID:25741868|PMID:25820262|PMID:27004399|PMID:27356891|PMID:28492532|PMID:29572252|PMID:30111349|PMID:38177409|PMID:9443879 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:1324 lung cancer ISO RGD:1323005 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: EGFR-related lung cancer | ClinVar Annotator: match by term: LUNG CANCER, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Lung cancer | ClinVar Annotator: match by term: Lung cancer, somatic PMID:10196384|PMID:10447254|PMID:10767341|PMID:11809892|PMID:1339317|PMID:16199547|PMID:16754848|PMID:17854076|PMID:18414213|PMID:18628313|PMID:18784753|PMID:19894250|PMID:21143350|PMID:21228398|PMID:22661500|PMID:22904069|PMID:24033266|PMID:25136123|PMID:25326635|PMID:25741868|PMID:25820262|PMID:27004399|PMID:27356891|PMID:28492532|PMID:29572252|PMID:30111349|PMID:31130284|PMID:32453336|PMID:32496904|PMID:32504035|PMID:32557569|PMID:32853555|PMID:34052969|PMID:38177409|PMID:887325|PMID:9150142|PMID:9443879 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:1324 lung cancer disease_progression ISO RGD:1323005 D RGD:9068941 20200609 RGD DNA:SNPs: :p.G399D, p.Q1413R (human) PMID:17855454|REF_RGD_ID:11567235 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:1324 lung cancer no_association ISO RGD:1323005 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:18789574|REF_RGD_ID:11567231 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:1324 lung cancer susceptibility ISO RGD:1323005 D RGD:9068941 20250213 RGD DNA:point mutation:promoter::c.-6530C>G (rs3793784) (human) PMID:17854076|REF_RGD_ID:11561791 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:1324 lung cancer susceptibility ISO RGD:1323005 D RGD:9068941 20250213 RGD mRNA:decreased expression:lung (human) PMID:10910954|REF_RGD_ID:155260338 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:14184 polyneuropathy due to drug treatment ISO RGD:1323005 D RGD:9068941 20221006 RGD associated with colorectal cancer;DNA:missense mutations:CDS:p.D425A, p.G446D, p.S797C (rs4253046, rs4253047, rs146043988) (human) PMID:35135151|REF_RGD_ID:155260345 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:14261 fragile X syndrome ISO RGD:1622854 D RGD:9068941 20200609 RGD PMID:24352881|REF_RGD_ID:10401097 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:1749 squamous cell carcinoma severity ISO RGD:1622854 D RGD:9068941 20200609 RGD associated with Cockayne Syndrome PMID:9150142|REF_RGD_ID:10401099 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:224 transient cerebral ischemia ISO RGD:1311509 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cerebral cortex PMID:10437118|REF_RGD_ID:10401104 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:2596 larynx cancer susceptibility ISO RGD:1323005 D RGD:9068941 20221006 RGD DNA:missense mutation:CDS:p.R1230P (human) PMID:19444904|REF_RGD_ID:155260337 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:2962 Cockayne syndrome ISO RGD:1323005 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Cockayne syndrome | ClinVar Annotator: match by term: Progeroid nanism PMID:15486090|PMID:16199547|PMID:18414213|PMID:18628313|PMID:19894250|PMID:20122405|PMID:21143350|PMID:21228398|PMID:22466610|PMID:22483866|PMID:25326635|PMID:25356239|PMID:25741868|PMID:25820262|PMID:26206375|PMID:27004399|PMID:27356891|PMID:28492532|PMID:29203878|PMID:29572252|PMID:29915382|PMID:29955172|PMID:30111349|PMID:31130284|PMID:31501894|PMID:32453336|PMID:32496904|PMID:32504035|PMID:32557569|PMID:32853555|PMID:32868804|PMID:34052969|PMID:7264357|PMID:9443879|PMID:9777763 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:3355 fibrosarcoma susceptibility ISO RGD:1622854 D RGD:9068941 20200609 RGD PMID:11238917|REF_RGD_ID:11567233 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:3525 middle cerebral artery infarction ISO RGD:1311509 D RGD:9068941 20200609 RGD PMID:9974119|REF_RGD_ID:10401103 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:3905 lung carcinoma ISO RGD:1323005 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lung carcinoma PMID:10196384|PMID:18414213|PMID:18628313|PMID:18784753|PMID:19894250|PMID:21143350|PMID:23311583|PMID:24154677|PMID:25741868|PMID:28492532|PMID:29572252|PMID:9443879 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:3907 lung squamous cell carcinoma ISO RGD:1323005 D RGD:9068941 20221006 RGD mRNA, protein:increased expression:lung (human) PMID:31615563|REF_RGD_ID:155260344 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1323005 D RGD:9068941 20221006 RGD DNA:SNP:intron: (rs4253002) (human) PMID:28924235|REF_RGD_ID:153323316 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:3910 lung adenocarcinoma ISO RGD:1323005 D RGD:9068941 20221006 RGD mRNA, protein:increased expression:lung (human) PMID:31615563|REF_RGD_ID:155260344 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:4448 macular degeneration ISO RGD:1323005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular degeneration PMID:18414213|PMID:25741868|PMID:28492532 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:4448 macular degeneration onset ISO RGD:1323005 D RGD:9068941 20200609 RGD PMID:21072178|REF_RGD_ID:10401096 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:5419 schizophrenia ISO RGD:1323005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1323005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:630 genetic disease ISO RGD:1323005 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:18414213|PMID:18628313|PMID:19894250|PMID:20456449|PMID:21228398|PMID:23311583|PMID:23428416|PMID:25251875|PMID:25326635|PMID:25356239|PMID:25741868|PMID:27004399|PMID:27356891|PMID:28440418|PMID:28492532|PMID:29572252|PMID:36099812|PMID:7063265|PMID:9443879 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:7400 Nijmegen breakage syndrome ISO RGD:1323005 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Microcephaly with normal intelligence immunodeficiency and lymphoreticular malignancies PMID:18414213|PMID:18628313|PMID:19894250|PMID:21228398|PMID:25326635|PMID:25677497|PMID:25741868|PMID:27356891|PMID:28492532|PMID:29572252 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:83 cataract ISO RGD:1323005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18628313 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:1323005 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Corpus callosum agenesis PMID:18414213|PMID:26076356|PMID:26197979 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9002644 Premature Aging ISO RGD:1323005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25440059 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9003816 Macrocephaly ISO RGD:1323005 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Macrocephaly PMID:18414213|PMID:26076356|PMID:26197979 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9004486 Drug-induced Neutropenia treatment ISO RGD:1323005 D RGD:9068941 20221006 RGD associated with lung non-small cell carcinoma;DNA:SNP:intron: (rs4253212) (human) PMID:28924235|REF_RGD_ID:153323316 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9004538 Hearing Loss ISO RGD:1323005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25440059 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9005172 Lung Neoplasms ISO RGD:1323005 D RGD:9068941 20240125 CTD CTD Direct Evidence: marker/mechanism PMID:17854076 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9005172 Lung Neoplasms susceptibility ISO RGD:1323005 D RGD:9068941 20240118 RGD DNA:SNPs: :rs3793784, rs12571445 (human) PMID:18789574|REF_RGD_ID:11567231 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9006257 Growth Disorders ISO RGD:1323005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18628313 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9006274 UV-Sensitive Syndrome 1 ISO RGD:1323005 D RGD:7240710 20250212 OMIM 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9006274 UV-Sensitive Syndrome 1 ISO RGD:1323005 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: UV-SENSITIVE SYNDROME 1 | ClinVar Annotator: match by term: UV-sensitive syndrome 1 PMID:10196384|PMID:10447254|PMID:10767341|PMID:11809892|PMID:1339317|PMID:15486090|PMID:16199547|PMID:18414213|PMID:18628313|PMID:18784753|PMID:19894250|PMID:21143350|PMID:21228398|PMID:22466610|PMID:22483866|PMID:22661500|PMID:22904069|PMID:23311583|PMID:24033266|PMID:24154677|PMID:25136123|PMID:25326635|PMID:25741868|PMID:25820262|PMID:27004399|PMID:27356891|PMID:28492532|PMID:29572252|PMID:29915382|PMID:30111349|PMID:31130284|PMID:32453336|PMID:32496904|PMID:32504035|PMID:32557569|PMID:32853555|PMID:34052969|PMID:38177409|PMID:7264357|PMID:887325|PMID:9150142|PMID:9443879|PMID:9777763 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9008514 Psychomotor Disorders ISO RGD:1323005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18628313 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1323005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18628313 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9256 colorectal cancer ISO RGD:1323005 D RGD:9068941 20221006 RGD DNA:SNP:exon: (rs2228526) (human) PMID:29151331|REF_RGD_ID:155260348 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9256 colorectal cancer ISO RGD:1323005 D RGD:9068941 20221006 RGD mRNA:increased expression:colorectum (human) PMID:16951227|REF_RGD_ID:155260343 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9256 colorectal cancer susceptibility ISO RGD:1323005 D RGD:9068941 20221006 RGD DNA:missense mutation:CDS:p.R1213G (human) PMID:17119055|REF_RGD_ID:155260340 8703523 Angel1 angel homolog 1 gene DOID:1059 intellectual disability ISO RGD:1314740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 8703555 Syf2 SYF2 pre-mRNA splicing factor gene DOID:9588 encephalitis ISO RGD:621592 D RGD:9068941 20200609 RGD PMID:24301298|REF_RGD_ID:10059414 8703567 Armc6 armadillo repeat containing 6 gene DOID:0111451 progressive myoclonus epilepsy 8 ISO RGD:1348624 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 PMID:28492532 8703567 Armc6 armadillo repeat containing 6 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1348624 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 8703608 Sox15 SRY-box transcription factor 15 gene DOID:0060224 atrial fibrillation ISO RGD:1323788 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 8703608 Sox15 SRY-box transcription factor 15 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1323788 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 8703608 Sox15 SRY-box transcription factor 15 gene DOID:0080558 congenital disorder of glycosylation If ISO RGD:1323788 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1F 8703608 Sox15 SRY-box transcription factor 15 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1323788 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 8703608 Sox15 SRY-box transcription factor 15 gene DOID:11612 polycystic ovary syndrome ISO RGD:1323788 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8703608 Sox15 SRY-box transcription factor 15 gene DOID:12177 common variable immunodeficiency ISO RGD:1323788 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:28492532 8703608 Sox15 SRY-box transcription factor 15 gene DOID:2729 dyskeratosis congenita ISO RGD:1323788 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 8703608 Sox15 SRY-box transcription factor 15 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1323788 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 8703620 Plin5 perilipin 5 gene DOID:13938 amenorrhea ISO RGD:2881444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8703642 Hexd hexosaminidase D gene DOID:1827 generalized epilepsy ISO RGD:1602417 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:28492532 8703664 Ckm creatine kinase, M-type gene DOID:326 ischemia ISO RGD:737472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21912612 8703664 Ckm creatine kinase, M-type gene DOID:5844 myocardial infarction ISO RGD:737472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12359538|PMID:3279722 8703664 Ckm creatine kinase, M-type gene DOID:9001686 Acute Coronary Syndrome ISO RGD:737472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15966572 8703664 Ckm creatine kinase, M-type gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:737472 D RGD:9068941 20200609 RGD PMID:12039490|REF_RGD_ID:1598441 8703664 Ckm creatine kinase, M-type gene DOID:9002928 Colonic Neoplasms ISO RGD:737472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 8703664 Ckm creatine kinase, M-type gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:737472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11406506 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0014667 disease of metabolism ISO RGD:731747 D RGD:9068941 20220825 MouseDO 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:731746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy PMID:25741868|PMID:28492532 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:731746 D RGD:7240710 20180130 OMIM 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:731746 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12161596|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12739139|PMID:12826400|PMID:12900909|PMID:12960218|PMID:13908956|PMID:14634749|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14974085|PMID:14982869|PMID:14991917|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15240615|PMID:15248152|PMID:15273746|PMID:15385933|PMID:15389709|PMID:15520399|PMID:15539800|PMID:15604238|PMID:15644411|PMID:15689434|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15929108|PMID:15940693|PMID:15948193|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16053901|PMID:16078230|PMID:16115145|PMID:16124853|PMID:16166557|PMID:16172598|PMID:16263833|PMID:16338218|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16399795|PMID:16461457|PMID:16488201|PMID:16498234|PMID:16518851|PMID:16523510|PMID:16533526|PMID:16557282|PMID:16631468|PMID:16638574|PMID:16643459|PMID:16679933|PMID:16733669|PMID:16804314|PMID:16830086|PMID:16892325|PMID:16924159|PMID:16987887|PMID:16990350|PMID:17020470|PMID:17052965|PMID:17143285|PMID:17177198|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17361219|PMID:17497712|PMID:17515436|PMID:17546245|PMID:17576681|PMID:17641779|PMID:17661820|PMID:17875892|PMID:17910045|PMID:17935252|PMID:17942397|PMID:17972951|PMID:18080325|PMID:18241070|PMID:18253957|PMID:18260110|PMID:18331608|PMID:18372317|PMID:18373317|PMID:18378677|PMID:18454468|PMID:18470943|PMID:18559669|PMID:18562489|PMID:18678287|PMID:18701506|PMID:18758896|PMID:18759865|PMID:18849586|PMID:18854871|PMID:18925961|PMID:19008228|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19061217|PMID:19063751|PMID:19077116|PMID:19120036|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19251646|PMID:19352411|PMID:19509418|PMID:19568997|PMID:19621452|PMID:19651601|PMID:19706403|PMID:19725129|PMID:19737548|PMID:19768645|PMID:19773259|PMID:19795160|PMID:19798502|PMID:19825837|PMID:19835954|PMID:19864201|PMID:20030748|PMID:20112233|PMID:20186801|PMID:20237506|PMID:20301303|PMID:20301557|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:20543023|PMID:20578946|PMID:20651068|PMID:20718194|PMID:20883402|PMID:20954246|PMID:20979190|PMID:21204800|PMID:21321969|PMID:21339643|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21407260|PMID:21526175|PMID:21533187|PMID:21548061|PMID:21555152|PMID:21567923|PMID:21590266|PMID:21747628|PMID:21784453|PMID:21901340|PMID:21910226|PMID:21910245|PMID:21930766|PMID:21934682|PMID:22190897|PMID:22315187|PMID:22371576|PMID:22411627|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22822385|PMID:22847776|PMID:22848035|PMID:22923420|PMID:23297836|PMID:23317994|PMID:23321623|PMID:23334666|PMID:23334668|PMID:23446178|PMID:23457302|PMID:23513489|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23726368|PMID:23756559|PMID:23771920|PMID:23813970|PMID:23825065|PMID:23832011|PMID:23957426|PMID:23996481|PMID:24033266|PMID:24037001|PMID:24039098|PMID:24072241|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24401936|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24754368|PMID:24767283|PMID:24775816|PMID:24803665|PMID:24820750|PMID:24891296|PMID:24935154|PMID:25097206|PMID:25156961|PMID:25326637|PMID:25337068|PMID:25383899|PMID:25395418|PMID:25425531|PMID:25500235|PMID:25533962|PMID:25544017|PMID:25595571|PMID:25612910|PMID:25695693|PMID:25722345|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25742478|PMID:25862627|PMID:25884655|PMID:25912702|PMID:25914815|PMID:25917897|PMID:26084119|PMID:26242988|PMID:26286251|PMID:26337637|PMID:26372199|PMID:26377839|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26556299|PMID:26607044|PMID:26619011|PMID:26633542|PMID:26645620|PMID:26673822|PMID:26783207|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26918529|PMID:27038324|PMID:27069254|PMID:27104176 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:731746 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia PMID:27117572|PMID:27153395|PMID:27168466|PMID:27193571|PMID:27238887|PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27626068|PMID:27659786|PMID:27783593|PMID:28051113|PMID:28074573|PMID:28098151|PMID:28135719|PMID:28191889|PMID:28363362|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561|PMID:28681392|PMID:28748642|PMID:28911804|PMID:28921562|PMID:28957739|PMID:28991257|PMID:29038591|PMID:29057136|PMID:29146883|PMID:29212898|PMID:29214238|PMID:29263817|PMID:29276006|PMID:29346770|PMID:29356064|PMID:29493581|PMID:29517769|PMID:29555671|PMID:29620724|PMID:29625052|PMID:29693080|PMID:29703613|PMID:29848529|PMID:29907801|PMID:29988639|PMID:30025578|PMID:30029678|PMID:30050098|PMID:30055033|PMID:30287924|PMID:30294303|PMID:30311386|PMID:30325180|PMID:30355600|PMID:30410095|PMID:30417923|PMID:30455982|PMID:30515541|PMID:30541462|PMID:30602027|PMID:30604644|PMID:30692697|PMID:30732632|PMID:30784236|PMID:30868567|PMID:30896080|PMID:31040167|PMID:31064749|PMID:31164752|PMID:31219622|PMID:31263281|PMID:31292302|PMID:31324109|PMID:31370276|PMID:31446693|PMID:31560489|PMID:31564432|PMID:31573083|PMID:31637070|PMID:31722741|PMID:32059087|PMID:32164556|PMID:32233106|PMID:32371413|PMID:32410215|PMID:32561839|PMID:32581362|PMID:32719394|PMID:32737134|PMID:32746448|PMID:32824488|PMID:32860008|PMID:32901917|PMID:33091040|PMID:33258288|PMID:33300679|PMID:33318624|PMID:33568805|PMID:33726816|PMID:33811550|PMID:33850299|PMID:34006472|PMID:34008892|PMID:34143244|PMID:34194850|PMID:34356170|PMID:34411415|PMID:34782754|PMID:34974531|PMID:35418823|PMID:35885957|PMID:35904599|PMID:35979676|PMID:36135330|PMID:36304179|PMID:36349709|PMID:36474027|PMID:36567979|PMID:36939041|PMID:37019085|PMID:37493574|PMID:37525886|PMID:37568403|PMID:37605180|PMID:37923938|PMID:37987971|PMID:38318288|PMID:38413718|PMID:38540404|PMID:4746100|PMID:9491886|PMID:9536098|PMID:9751050 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0050469 Costello syndrome ISO RGD:731746 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17703371 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0050700 cardiomyopathy ISO RGD:731746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:18759865|PMID:21934682|PMID:22923420|PMID:24033266|PMID:24803665|PMID:25500235|PMID:25612910|PMID:25741868|PMID:27153395|PMID:28051113|PMID:28492532 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0050868 hepatocellular adenoma ISO RGD:731747 D RGD:9068941 20220825 MouseDO 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0060041 autism spectrum disorder ISO RGD:731746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0060058 lymphoma ISO RGD:731746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lymphoma PMID:11704759|PMID:11992261|PMID:12161469|PMID:12325025|PMID:12634870|PMID:12960218|PMID:14644997|PMID:15001945|PMID:15928039|PMID:16498234|PMID:17497712|PMID:19077116|PMID:20301303|PMID:21407260|PMID:21533187|PMID:22420426|PMID:22465605|PMID:22711529|PMID:23624134|PMID:23771920|PMID:24033266|PMID:24037001|PMID:24219368|PMID:24451042|PMID:24458522|PMID:24803665|PMID:24935154|PMID:25156961|PMID:25337068|PMID:25741868|PMID:25741869|PMID:25862627|PMID:26084119|PMID:26242988|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26817465|PMID:27038324|PMID:27104176|PMID:28492532|PMID:29493581|PMID:29907801|PMID:30055033|PMID:30311386|PMID:30417923|PMID:30692697|PMID:31219622|PMID:31560489|PMID:32164556|PMID:32371413|PMID:32901917|PMID:34008892 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0060233 cardiofaciocutaneous syndrome ISO RGD:731746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CFC syndrome PMID:25741868|PMID:28492532 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0060249 scoliosis ISO RGD:731746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Scoliosis PMID:11992261|PMID:15121796|PMID:17339163|PMID:17875892|PMID:18241070|PMID:20301557|PMID:21533187|PMID:24033266|PMID:24935154|PMID:25741868|PMID:28492532 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0060250 idiopathic scoliosis ISO RGD:731747 D RGD:9068941 20220825 MouseDO 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0060260 ptosis ISO RGD:731746 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Ptosis PMID:11992261|PMID:14644997|PMID:15987685|PMID:16358218|PMID:17020470|PMID:17339163|PMID:17361219|PMID:18372317|PMID:19020799|PMID:19737548|PMID:20308328|PMID:21533187|PMID:22315187|PMID:23584145|PMID:24033266|PMID:24628801|PMID:24935154|PMID:25741868|PMID:26467025|PMID:26918529|PMID:28363362|PMID:28492532|PMID:29907801|PMID:30311386|PMID:30410095|PMID:30417923|PMID:31219622|PMID:31560489|PMID:32164556|PMID:32581362 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:731746 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:32417439 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0060578 Noonan syndrome 1 ISO RGD:731746 D RGD:7240710 20180130 OMIM 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0060578 Noonan syndrome 1 ISO RGD:731746 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Noonan syndrome 1 PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12161596|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12739139|PMID:12826400|PMID:12900909|PMID:12960218|PMID:13908956|PMID:14634749|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14974085|PMID:14982869|PMID:14991917|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15211660|PMID:15240615|PMID:15248152|PMID:15273746|PMID:15384080|PMID:15385933|PMID:15389709|PMID:15470362|PMID:15520399|PMID:15539800|PMID:15604238|PMID:15644411|PMID:15689434|PMID:15690106|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15929108|PMID:15940693|PMID:15948193|PMID:15951301|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16053901|PMID:16078230|PMID:16115145|PMID:16124853|PMID:16166557|PMID:16172598|PMID:16263833|PMID:16338218|PMID:1635821|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16399795|PMID:16461457|PMID:16467864|PMID:16488201|PMID:16498234|PMID:16518851|PMID:16523510|PMID:16533526|PMID:16557282|PMID:16631468|PMID:16638574|PMID:16643459|PMID:16679933|PMID:1672296|PMID:16733669|PMID:16804314|PMID:16830086|PMID:16892325|PMID:16924159|PMID:16987887|PMID:16990350|PMID:17020470|PMID:17052965|PMID:17053061|PMID:17143285|PMID:17177198|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17361219|PMID:17453145|PMID:17497712|PMID:17515436|PMID:17546245|PMID:17576681|PMID:17641779|PMID:17661820|PMID:17875892|PMID:17910045|PMID:17935252|PMID:17972951|PMID:18080325|PMID:18241070|PMID:18253957|PMID:18260110|PMID:18286234|PMID:18328949|PMID:18331608|PMID:18372317|PMID:18373317|PMID:18378677|PMID:18454468|PMID:18470943|PMID:18505544|PMID:18562489|PMID:18678287|PMID:18701506|PMID:18758896|PMID:18759865|PMID:18849586|PMID:18854871|PMID:18925961|PMID:19008228|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19061217|PMID:19063751|PMID:19077116|PMID:19120036|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19251646|PMID:19273734|PMID:19352411|PMID:19449407|PMID:19506109|PMID:19509418|PMID:19568997|PMID:19582499|PMID:19621452|PMID:19651601|PMID:19706403|PMID:19725129|PMID:19737548|PMID:19768645|PMID:19773259|PMID:19795160|PMID:19825837|PMID:19835954|PMID:19864201|PMID:20030748|PMID:20112233|PMID:20186801|PMID:20237506|PMID:20301303|PMID:20301557|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:20543023|PMID:20577567|PMID:2057894|PMID:20578946|PMID:20651068|PMID:20718194|PMID:20852937|PMID:20883402|PMID:20954246|PMID:20979190|PMID:21106241|PMID:21204800|PMID:21248739|PMID:21321969|PMID:21339643|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21396583|PMID:21407260|PMID:21526175|PMID:21533187|PMID:21548061|PMID:21555152|PMID:21567923|PMID:21590266|PMID:21677813|PMID:21680795|PMID:21747628|PMID:21784453|PMID:21803945|PMID:21901340|PMID:21910226|PMID:21910245|PMID:21930766|PMID:21934682|PMID:22058153|PMID:22097954|PMID:22190897|PMID:22253195|PMID:22315187|PMID:22371576|PMID:22411627|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22528600|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22822385|PMID:22847776|PMID:22848035|PMID:22923420|PMID:22959829|PMID:23297836|PMID:23312806|PMID:23317994|PMID:23321623|PMID:23334666|PMID:23334668|PMID:23446178|PMID:23457302|PMID:23513489|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23726368|PMID:23756559|PMID:23771920|PMID:23799168|PMID:23813970|PMID:23817572|PMID:23825065|PMID:23832011|PMID:23917401|PMID:23957426|PMID:23996481|PMID:24030381|PMID:24033266|PMID:24037001|PMID:24039098|PMID:24072241|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24401936|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24754368|PMID:24767283|PMID:24775816|PMID:24803665|PMID:24820750|PMID:24821303|PMID:24891296|PMID:24896146|PMID:24931631|PMID:24935154|PMID:24939587|PMID:25039348|PMID:25097206|PMID:25156961|PMID:25231023|PMID:25253770|PMID:25326635|PMID:25326637|PMID:25337068|PMID:25359717 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0060578 Noonan syndrome 1 ISO RGD:731746 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Noonan syndrome 1 PMID:25383899|PMID:25395418|PMID:25425531|PMID:25500235|PMID:25533962|PMID:25544017|PMID:25595571|PMID:25612910|PMID:2564168|PMID:25695693|PMID:25708222|PMID:25722345|PMID:25724491|PMID:2572450|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25742478|PMID:25804457|PMID:25862627|PMID:25884655|PMID:25912702|PMID:25914815|PMID:25917897|PMID:25937001|PMID:26084119|PMID:26206283|PMID:26242988|PMID:26286251|PMID:26337637|PMID:26372199|PMID:26377839|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26556299|PMID:26607044|PMID:26619011|PMID:26633542|PMID:26645620|PMID:26673822|PMID:26742426|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26833328|PMID:26918529|PMID:27030275|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27117572|PMID:27149842|PMID:27153395|PMID:27168466|PMID:27193571|PMID:27238887|PMID:27276561|PMID:27353043|PMID:27460089|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27626068|PMID:27659786|PMID:27683039|PMID:27783593|PMID:27876779|PMID:27884971|PMID:27959697|PMID:27993330|PMID:28051113|PMID:28074573|PMID:28084675|PMID:28098151|PMID:28125078|PMID:28135719|PMID:28191889|PMID:28363362|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561|PMID:28681392|PMID:28748642|PMID:28911804|PMID:28921562|PMID:28957739|PMID:28991257|PMID:29038591|PMID:29057136|PMID:29084544|PMID:29146883|PMID:29212898|PMID:29214238|PMID:29263817|PMID:29276006|PMID:29346770|PMID:29356064|PMID:29493581|PMID:29517769|PMID:29555671|PMID:29602897|PMID:29620724|PMID:29625052|PMID:29693080|PMID:29703613|PMID:29758562|PMID:29848529|PMID:29907801|PMID:29988639|PMID:30025578|PMID:30029678|PMID:30050098|PMID:30055033|PMID:30105547|PMID:30287924|PMID:30294303|PMID:30311386|PMID:30325180|PMID:30355600|PMID:30375388|PMID:30410095|PMID:30417923|PMID:30455982|PMID:30515541|PMID:30541462|PMID:30577886|PMID:30602027|PMID:30604644|PMID:30692697|PMID:30693642|PMID:30732632|PMID:30784236|PMID:30868567|PMID:30896080|PMID:30919686|PMID:31040167|PMID:31064749|PMID:31164752|PMID:31219622|PMID:31259454|PMID:31292302|PMID:31324109|PMID:31370276|PMID:31446693|PMID:31560489|PMID:31562133|PMID:31564432|PMID:31573083|PMID:31637070|PMID:31722741|PMID:31827275|PMID:31941532|PMID:32059087|PMID:32112654|PMID:32164556|PMID:32233106|PMID:32368696|PMID:32371413|PMID:32410215|PMID:32561839|PMID:32581362|PMID:32719394|PMID:32737134|PMID:3274644|PMID:32746448|PMID:32786180|PMID:32794475|PMID:32824488|PMID:32860008|PMID:32901917|PMID:32963807|PMID:33091040|PMID:33128510|PMID:33167018|PMID:33258288|PMID:33300679|PMID:33318624|PMID:33568805|PMID:33619735|PMID:33726816|PMID:33811550|PMID:33850299|PMID:34006472|PMID:34008892|PMID:34136434|PMID:34143244|PMID:34184824|PMID:34194850|PMID:34308104|PMID:34356170|PMID:34411415|PMID:34782754|PMID:34974531|PMID:35248088|PMID:35418823|PMID:35769956|PMID:35858754|PMID:35885957|PMID:35904599|PMID:35979676|PMID:36135330|PMID:36304179|PMID:36474027|PMID:36567979|PMID:36714562|PMID:36939041|PMID:37019085|PMID:37493574|PMID:37525886|PMID:37568403|PMID:37605180|PMID:37923938|PMID:37987971|PMID:38318288|PMID:38413718|PMID:38540404|PMID:39033378|PMID:4746100|PMID:9491886|PMID:9536098|PMID:9751050 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0060581 Noonan syndrome 3 ISO RGD:731746 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Noonan syndrome 3 PMID:11704759|PMID:11992261|PMID:12161469|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12960218|PMID:14644997|PMID:14974085|PMID:15001945|PMID:15240615|PMID:15248152|PMID:15385933|PMID:15520399|PMID:15604238|PMID:15689434|PMID:15690106|PMID:15723289|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15948193|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16124853|PMID:16166557|PMID:16263833|PMID:16358218|PMID:16377799|PMID:16399795|PMID:16467864|PMID:16498234|PMID:16638574|PMID:16733669|PMID:16804314|PMID:17020470|PMID:17339163|PMID:17361219|PMID:17497712|PMID:17546245|PMID:17641779|PMID:17661820|PMID:18241070|PMID:18286234|PMID:18372317|PMID:18470943|PMID:18505544|PMID:18678287|PMID:18759865|PMID:18854871|PMID:19017799|PMID:19020799|PMID:19077116|PMID:19120036|PMID:19125092|PMID:19273734|PMID:19582499|PMID:19706403|PMID:19737548|PMID:20112233|PMID:20186801|PMID:20301303|PMID:20301557|PMID:20308328|PMID:2057894|PMID:20578946|PMID:20718194|PMID:20954246|PMID:21106241|PMID:21204800|PMID:21321969|PMID:21340158|PMID:21407260|PMID:21533187|PMID:21677813|PMID:21680795|PMID:21784453|PMID:21803945|PMID:21910226|PMID:22058153|PMID:22190897|PMID:22315187|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22848035|PMID:23321623|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23756559|PMID:23771920|PMID:24030381|PMID:24033266|PMID:24037001|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24803665|PMID:24821303|PMID:24931631|PMID:24935154|PMID:25097206|PMID:25156961|PMID:25253770|PMID:25326635|PMID:25337068|PMID:25359717|PMID:25595571|PMID:25708222|PMID:25724491|PMID:25741868|PMID:25741869|PMID:25862627|PMID:25914815|PMID:26084119|PMID:26242988|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26633542|PMID:26742426|PMID:26817465|PMID:26822237|PMID:26918529|PMID:27038324|PMID:27104176|PMID:27193571|PMID:27460089|PMID:27521173|PMID:27626068|PMID:27683039|PMID:27884971|PMID:28363362|PMID:28492532|PMID:28911804|PMID:29212898|PMID:29493581|PMID:29907801|PMID:30055033|PMID:30311386|PMID:30355600|PMID:30410095|PMID:30417923|PMID:30541462|PMID:30692697|PMID:30732632|PMID:31219622|PMID:31560489|PMID:32164556|PMID:32371413|PMID:32581362|PMID:32901917|PMID:33811550|PMID:34008892|PMID:34782754|PMID:35769956|PMID:35979676 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0080548 Noonan syndrome with multiple lentigines 1 ISO RGD:731746 D RGD:7240710 20190320 OMIM 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0080548 Noonan syndrome with multiple lentigines 1 ISO RGD:731746 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: LEOPARD syndrome 1 PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12161596|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12739139|PMID:12826400|PMID:12900909|PMID:12960218|PMID:13908956|PMID:14634749|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14974085|PMID:14982869|PMID:14991917|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15240615|PMID:15248152|PMID:15273746|PMID:15385933|PMID:15389709|PMID:15470362|PMID:15520399|PMID:15539800|PMID:15604238|PMID:15689434|PMID:15690106|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15929108|PMID:15940693|PMID:15948193|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16053901|PMID:16078230|PMID:16115145|PMID:16124853|PMID:16166557|PMID:16172598|PMID:16263833|PMID:16338218|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16399795|PMID:16461457|PMID:16488201|PMID:16498234|PMID:16518851|PMID:16523510|PMID:16533526|PMID:16557282|PMID:16631468|PMID:16638574|PMID:16643459|PMID:16679933|PMID:1672296|PMID:16733669|PMID:16804314|PMID:16830086|PMID:16892325|PMID:16924159|PMID:16987887|PMID:16990350|PMID:17020470|PMID:17052965|PMID:17143285|PMID:17177198|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17361219|PMID:17453145|PMID:17497712|PMID:17515436|PMID:17546245|PMID:17576681|PMID:17641779|PMID:17661820|PMID:17875892|PMID:17910045|PMID:17935252|PMID:17972951|PMID:18080325|PMID:18241070|PMID:18253957|PMID:18260110|PMID:18331608|PMID:18372317|PMID:18373317|PMID:18378677|PMID:18454468|PMID:18470943|PMID:18505544|PMID:18562489|PMID:18678287|PMID:18701506|PMID:18758896|PMID:18759865|PMID:18849586|PMID:18854871|PMID:19008228|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19061217|PMID:19063751|PMID:19077116|PMID:19120036|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19251646|PMID:19273734|PMID:19352411|PMID:19449407|PMID:19509418|PMID:19568997|PMID:19582499|PMID:19621452|PMID:19651601|PMID:19659470|PMID:19706403|PMID:19725129|PMID:19737548|PMID:19768645|PMID:19795160|PMID:19825837|PMID:19835954|PMID:19864201|PMID:20030748|PMID:20186801|PMID:20237506|PMID:20301303|PMID:20301557|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:20543023|PMID:2057894|PMID:20578946|PMID:20651068|PMID:20718194|PMID:20883402|PMID:20954246|PMID:20979190|PMID:21106241|PMID:21204800|PMID:21321969|PMID:21339643|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21396583|PMID:21407260|PMID:21526175|PMID:21533187|PMID:21548061|PMID:21567923|PMID:21590266|PMID:21677813|PMID:21747628|PMID:21784453|PMID:21803945|PMID:21901340|PMID:21910226|PMID:21910245|PMID:21934682|PMID:22058153|PMID:22097954|PMID:22190897|PMID:22315187|PMID:22371576|PMID:22411627|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22528600|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22822385|PMID:22847776|PMID:22848035|PMID:22923420|PMID:23297836|PMID:23312806|PMID:23317994|PMID:23321623|PMID:23334668|PMID:23446178|PMID:23457302|PMID:23513489|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23726368|PMID:23756559|PMID:23771920|PMID:23799168|PMID:23813970|PMID:23825065|PMID:23832011|PMID:23957426|PMID:23996481|PMID:24030381|PMID:24033266|PMID:24037001|PMID:24039098|PMID:24072241|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24401936|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24754368|PMID:24767283|PMID:24775816|PMID:24790373|PMID:24803665|PMID:24820750|PMID:24891296|PMID:24896146|PMID:24935154|PMID:24939587|PMID:25097206|PMID:25156961|PMID:25231023|PMID:25263441|PMID:25326635|PMID:25326637|PMID:25337068|PMID:25359717|PMID:25381062|PMID:25383899|PMID:25395418|PMID:25425531|PMID:25500235|PMID:25533962|PMID:25544017|PMID:25595571|PMID:25612910|PMID:2564168|PMID:25695693|PMID:25708222|PMID:25722345|PMID:25724491|PMID:2572450|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25742478|PMID:25862627|PMID:25884655|PMID:25912702|PMID:25914815|PMID:25917897|PMID:25937001|PMID:26084119 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0080548 Noonan syndrome with multiple lentigines 1 ISO RGD:731746 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: LEOPARD syndrome 1 PMID:26206283|PMID:26242988|PMID:26286251|PMID:26337637|PMID:26372199|PMID:26377839|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26556299|PMID:26607044|PMID:26633542|PMID:26645620|PMID:26673822|PMID:26742426|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26918529|PMID:27030275|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27117572|PMID:27149842|PMID:27153395|PMID:27168466|PMID:27193571|PMID:27238887|PMID:27276561|PMID:27353043|PMID:27460089|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27626068|PMID:27659786|PMID:27884971|PMID:27959697|PMID:28051113|PMID:28074573|PMID:28125078|PMID:28135719|PMID:28191889|PMID:28363362|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561|PMID:28681392|PMID:28748642|PMID:28911804|PMID:28921562|PMID:28957739|PMID:28991257|PMID:29038591|PMID:29057136|PMID:29084544|PMID:29146883|PMID:29212898|PMID:29214238|PMID:29263817|PMID:29276006|PMID:29346770|PMID:29356064|PMID:29493581|PMID:29517769|PMID:29555671|PMID:29602897|PMID:29620724|PMID:29625052|PMID:29693080|PMID:29703613|PMID:29848529|PMID:29907801|PMID:29988639|PMID:30025578|PMID:30029678|PMID:30050098|PMID:30055033|PMID:30105547|PMID:30287924|PMID:30294303|PMID:30311386|PMID:30325180|PMID:30355600|PMID:30375388|PMID:30410095|PMID:30417923|PMID:30455982|PMID:30515541|PMID:30541462|PMID:30602027|PMID:30604644|PMID:30692697|PMID:30693642|PMID:30732632|PMID:30784236|PMID:30896080|PMID:30919686|PMID:31040167|PMID:31064749|PMID:31164752|PMID:31219622|PMID:31259454|PMID:31292302|PMID:31324109|PMID:31370276|PMID:31446693|PMID:31560489|PMID:31564432|PMID:31573083|PMID:31637070|PMID:31722741|PMID:31827275|PMID:31941532|PMID:32059087|PMID:32164556|PMID:32233106|PMID:32368696|PMID:32371413|PMID:32410215|PMID:32581362|PMID:32719394|PMID:32737134|PMID:3274644|PMID:32746448|PMID:32824488|PMID:32860008|PMID:32901917|PMID:32963807|PMID:33091040|PMID:33258288|PMID:33300679|PMID:33318624|PMID:33568805|PMID:33726816|PMID:33811550|PMID:33850299|PMID:34006472|PMID:34008892|PMID:34143244|PMID:34194850|PMID:34356170|PMID:34411415|PMID:34782754|PMID:34974531|PMID:35248088|PMID:35418823|PMID:35858754|PMID:35885957|PMID:35904599|PMID:35979676|PMID:36135330|PMID:36304179|PMID:36474027|PMID:36567979|PMID:36939041|PMID:37019085|PMID:37493574|PMID:37525886|PMID:37568403|PMID:37605180|PMID:37923938|PMID:37987971|PMID:38318288|PMID:38413718|PMID:38540404|PMID:4746100|PMID:9491886|PMID:9536098|PMID:9751050 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0080690 RASopathy ISO RGD:731746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rasopathy | ClinVar Annotator: match by term: rasopathies PMID:10594032|PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12161596|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12739139|PMID:12826400|PMID:12900909|PMID:12960218|PMID:13908956|PMID:14634749|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14974085|PMID:14982869|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15240615|PMID:15248152|PMID:15273746|PMID:15384080|PMID:15385933|PMID:15389709|PMID:15470362|PMID:15520399|PMID:15521065|PMID:15539800|PMID:15604238|PMID:15644411|PMID:15689434|PMID:15690106|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15929108|PMID:15940693|PMID:15948193|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16032767|PMID:16053901|PMID:16078230|PMID:16115145|PMID:16124853|PMID:16166557|PMID:16199547|PMID:16263833|PMID:16338218|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16399795|PMID:16461457|PMID:16467864|PMID:16488201|PMID:16498234|PMID:16533526|PMID:16557282|PMID:16566035|PMID:16631468|PMID:16638574|PMID:16643459|PMID:16672235|PMID:16679933|PMID:16733669|PMID:16804314|PMID:16830086|PMID:16892325|PMID:16924159|PMID:16987887|PMID:16990350|PMID:17020470|PMID:17052965|PMID:17053061|PMID:17143285|PMID:17177198|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17361219|PMID:17453145|PMID:17497712|PMID:17515436|PMID:17546245|PMID:17576681|PMID:17641779|PMID:17661820|PMID:17697839|PMID:17875892|PMID:17910045|PMID:17927788|PMID:17935252|PMID:17972951|PMID:18080325|PMID:18241070|PMID:18253957|PMID:18260110|PMID:18286234|PMID:18328949|PMID:18331608|PMID:18348260|PMID:18372317|PMID:18373317|PMID:18378677|PMID:18454468|PMID:18470943|PMID:18505544|PMID:18562489|PMID:18678287|PMID:18701506|PMID:18758896|PMID:18759865|PMID:18849586|PMID:18854871|PMID:19008228|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19061217|PMID:19063751|PMID:19077116|PMID:19120036|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19251646|PMID:19273734|PMID:19352411|PMID:19449407|PMID:19506109|PMID:19509418|PMID:19568997|PMID:19582499|PMID:19651601|PMID:19659470|PMID:19706403|PMID:19725129|PMID:19737548|PMID:19760651|PMID:19768645|PMID:19795160|PMID:19825837|PMID:19835954|PMID:19864201|PMID:19927903|PMID:20030748|PMID:20112233|PMID:20186801|PMID:20237506|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:20577567|PMID:20578946|PMID:20651068|PMID:20718194|PMID:20852937|PMID:20883402|PMID:20931536|PMID:20954246|PMID:20979190|PMID:21106241|PMID:21204800|PMID:21248739|PMID:21321969|PMID:21339643|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21407260|PMID:21526175|PMID:21533187|PMID:21548061|PMID:21567923|PMID:21590266|PMID:21597774|PMID:21677813|PMID:21680795|PMID:21706501|PMID:21744363|PMID:21747628|PMID:21784453|PMID:21803945|PMID:21901340|PMID:21910226|PMID:21910245|PMID:21930766|PMID:21934682|PMID:22058153|PMID:22190897|PMID:22253195|PMID:22315187|PMID:22371576|PMID:22411627|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22528600|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22822385|PMID:22848035|PMID:22923420|PMID:22959829|PMID:23297836|PMID:23312806|PMID:23317994|PMID:23321623|PMID:23334668|PMID:23446178|PMID:23457302|PMID:23513489|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23726368|PMID:23756559|PMID:23771920|PMID:23799168|PMID:23813970|PMID:23825065|PMID:23832011|PMID:23917401|PMID:23957426|PMID:24033266|PMID:24037001|PMID:24039098|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24225993|PMID:24401936|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24739123|PMID:24754368|PMID:24767283|PMID:24775816|PMID:24790373|PMID:24803665|PMID:24820750|PMID:24821303|PMID:24891296|PMID:24896146|PMID:24931631|PMID:24935154|PMID:24939587|PMID:25039348|PMID:25097206|PMID:25156961|PMID:25231023|PMID:25326635|PMID:25326637|PMID:25331952|PMID:25337068|PMID:25359717|PMID:25363768|PMID:25383899|PMID:25395418|PMID:25500235 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0080690 RASopathy ISO RGD:731746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rasopathy | ClinVar Annotator: match by term: rasopathies PMID:25533962|PMID:25544017|PMID:25585602|PMID:25595571|PMID:25612910|PMID:25695693|PMID:25708222|PMID:25722345|PMID:25724491|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25862627|PMID:25884655|PMID:25912702|PMID:25914815|PMID:25917897|PMID:25937001|PMID:26084119|PMID:26203125|PMID:26206283|PMID:26242988|PMID:26337637|PMID:26372199|PMID:26456833|PMID:26457647|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26619011|PMID:26673822|PMID:26742426|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26918529|PMID:27030275|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27117572|PMID:27153395|PMID:27238887|PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27626068|PMID:27659786|PMID:27683039|PMID:27763634|PMID:27783593|PMID:27993330|PMID:28051113|PMID:28074573|PMID:28084675|PMID:28098151|PMID:28125078|PMID:28166811|PMID:28363362|PMID:28366775|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561|PMID:28681392|PMID:28921562|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29084544|PMID:29146883|PMID:29276006|PMID:29437595|PMID:29493581|PMID:29533785|PMID:29555671|PMID:29907801|PMID:29988639|PMID:30266093|PMID:30311386|PMID:30355600|PMID:30410095|PMID:30417923|PMID:30455982|PMID:30541462|PMID:30577886|PMID:30604644|PMID:30732632|PMID:30784236|PMID:30868567|PMID:30896080|PMID:31040167|PMID:31064749|PMID:31134136|PMID:31219622|PMID:31263281|PMID:31560489|PMID:31573083|PMID:31827275|PMID:32164556|PMID:32165824|PMID:32581362|PMID:32627857|PMID:32860008|PMID:32963807|PMID:33091040|PMID:33128510|PMID:34008892|PMID:34782754|PMID:4746100|PMID:9491886|PMID:9536098 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0080690 RASopathy ISO RGD:731746 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:10594032|PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12161596|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12739139|PMID:12826400|PMID:12900909|PMID:12960218|PMID:13908956|PMID:14634749|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14974085|PMID:14982869|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15240615|PMID:15248152|PMID:15273746|PMID:15384080|PMID:15385933|PMID:15389709|PMID:15470362|PMID:15520399|PMID:15539800|PMID:15604238|PMID:15689434|PMID:15690106|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15929108|PMID:15940693|PMID:15948193|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16032767|PMID:16053901|PMID:16078230|PMID:16115145|PMID:16124853|PMID:16166557|PMID:16199547|PMID:16263833|PMID:16338218|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16399795|PMID:16461457|PMID:16467864|PMID:16488201|PMID:16498234|PMID:16533526|PMID:16557282|PMID:16566035|PMID:16631468|PMID:16638574|PMID:16643459|PMID:16672235|PMID:16679933|PMID:16733669|PMID:16804314|PMID:16830086|PMID:16892325|PMID:16924159|PMID:16987887|PMID:16990350|PMID:17020470|PMID:17052965|PMID:17053061|PMID:17143285|PMID:17177198|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17361219|PMID:17453145|PMID:17497712|PMID:17515436|PMID:17546245|PMID:17576681|PMID:17641779|PMID:17661820|PMID:17697839|PMID:17875892|PMID:17910045|PMID:17927788|PMID:17935252|PMID:17972951|PMID:18080325|PMID:18241070|PMID:18253957|PMID:18260110|PMID:18286234|PMID:18328949|PMID:18331608|PMID:18348260|PMID:18372317|PMID:18373317|PMID:18378677|PMID:18454468|PMID:18470943|PMID:18505544|PMID:18562489|PMID:18678287|PMID:18701506|PMID:18758896|PMID:18759865|PMID:18849586|PMID:18854871|PMID:19008228|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19061217|PMID:19063751|PMID:19077116|PMID:19120036|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19251646|PMID:19273734|PMID:19352411|PMID:19449407|PMID:19506109|PMID:19509418|PMID:19568997|PMID:19582499|PMID:19651601|PMID:19706403|PMID:19725129|PMID:19737548|PMID:19760651|PMID:19768645|PMID:19795160|PMID:19825837|PMID:19835954|PMID:19864201|PMID:19927903|PMID:20030748|PMID:20112233|PMID:20186801|PMID:20237506|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:20577567|PMID:2057894|PMID:20578946|PMID:20651068|PMID:20718194|PMID:20852937|PMID:20883402|PMID:20931536|PMID:20954246|PMID:20979190|PMID:21106241|PMID:21204800|PMID:21248739|PMID:21321969|PMID:21339643|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21407260|PMID:21526175|PMID:21533187|PMID:21548061|PMID:21567923|PMID:21590266|PMID:21597774|PMID:21677813|PMID:21680795|PMID:21706501|PMID:21744363|PMID:21747628|PMID:21784453|PMID:21803945|PMID:21901340|PMID:21910226|PMID:21910245|PMID:21930766|PMID:21934682|PMID:22058153|PMID:22190897|PMID:22253195|PMID:22315187|PMID:22371576|PMID:22411627|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22528600|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22822385|PMID:22848035|PMID:22923420|PMID:22959829|PMID:23297836|PMID:23312806|PMID:23317994|PMID:23321623|PMID:23334668|PMID:23446178|PMID:23457302|PMID:23513489|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23726368|PMID:23756559|PMID:23771920|PMID:23799168|PMID:23813970|PMID:23825065|PMID:23832011|PMID:23917401|PMID:23957426|PMID:24033266|PMID:24037001|PMID:24039098|PMID:24072241|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24225993|PMID:24401936|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24739123|PMID:24754368|PMID:24767283|PMID:24775816|PMID:24803665|PMID:24820750|PMID:24821303|PMID:24891296|PMID:24896146|PMID:24931631|PMID:24935154|PMID:24939587|PMID:25097206|PMID:25156961|PMID:25231023|PMID:25326635|PMID:25326637|PMID:25331952|PMID:25337068|PMID:25359717|PMID:25363768|PMID:25383899|PMID:25395418|PMID:25500235|PMID:25533962|PMID:25544017|PMID:25585602 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0080690 RASopathy ISO RGD:731746 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:25595571|PMID:25612910|PMID:25695693|PMID:25708222|PMID:25722345|PMID:25724491|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25804457|PMID:25862627|PMID:25884655|PMID:25912702|PMID:25914815|PMID:25917897|PMID:25937001|PMID:26084119|PMID:26203125|PMID:26206283|PMID:26242988|PMID:26337637|PMID:26372199|PMID:26456833|PMID:26457647|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26619011|PMID:26645620|PMID:26673822|PMID:26742426|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26918529|PMID:27030275|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27117572|PMID:27149842|PMID:27153395|PMID:27238887|PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27626068|PMID:27659786|PMID:27683039|PMID:27783593|PMID:27993330|PMID:28051113|PMID:28074573|PMID:28084675|PMID:28098151|PMID:28125078|PMID:28135719|PMID:28166811|PMID:28363362|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561|PMID:28681392|PMID:28921562|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29084544|PMID:29146883|PMID:29214238|PMID:29263817|PMID:29276006|PMID:29437595|PMID:29493581|PMID:29533785|PMID:29555671|PMID:29848529|PMID:29907801|PMID:29988639|PMID:30055033|PMID:30266093|PMID:30287924|PMID:30294303|PMID:30311386|PMID:30355600|PMID:30410095|PMID:30417923|PMID:30455982|PMID:30541462|PMID:30602027|PMID:30604644|PMID:30692697|PMID:30732632|PMID:30784236|PMID:30868567|PMID:30896080|PMID:31040167|PMID:31064749|PMID:31134136|PMID:31219622|PMID:31263281|PMID:31324109|PMID:31560489|PMID:31573083|PMID:31637070|PMID:31827275|PMID:32059087|PMID:32164556|PMID:32233106|PMID:32371413|PMID:32581362|PMID:32627857|PMID:32719394|PMID:32860008|PMID:32901917|PMID:32963807|PMID:33091040|PMID:33128510|PMID:34006472|PMID:34008892|PMID:34782754|PMID:4746100|PMID:9491886|PMID:9536098 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0080690 RASopathy ISO RGD:731746 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: RASopathy PMID:10594032|PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12161596|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12739139|PMID:12826400|PMID:12900909|PMID:12960218|PMID:13908956|PMID:14634749|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14974085|PMID:14982869|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15240615|PMID:15248152|PMID:15273746|PMID:15384080|PMID:15385933|PMID:15389709|PMID:15470362|PMID:15520399|PMID:15539800|PMID:15604238|PMID:15689434|PMID:15690106|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15929108|PMID:15940693|PMID:15948193|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16032767|PMID:16053901|PMID:16078230|PMID:16115145|PMID:16124853|PMID:16166557|PMID:16199547|PMID:16263833|PMID:16338218|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16399795|PMID:16461457|PMID:16467864|PMID:16488201|PMID:16498234|PMID:16533526|PMID:16557282|PMID:16566035|PMID:16631468|PMID:16638574|PMID:16643459|PMID:16672235|PMID:16679933|PMID:16733669|PMID:16804314|PMID:16830086|PMID:16892325|PMID:16924159|PMID:16987887|PMID:16990350|PMID:17020470|PMID:17052965|PMID:17053061|PMID:17143285|PMID:17177198|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17361219|PMID:17453145|PMID:17497712|PMID:17515436|PMID:17546245|PMID:17576681|PMID:17641779|PMID:17661820|PMID:17697839|PMID:17875892|PMID:17910045|PMID:17927788|PMID:17935252|PMID:17972951|PMID:18080325|PMID:18241070|PMID:18253957|PMID:18260110|PMID:18286234|PMID:18328949|PMID:18331608|PMID:18348260|PMID:18372317|PMID:18373317|PMID:18378677|PMID:18454468|PMID:18470943|PMID:18505544|PMID:18562489|PMID:18678287|PMID:18701506|PMID:18758896|PMID:18759865|PMID:18849586|PMID:18854871|PMID:19008228|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19061217|PMID:19063751|PMID:19077116|PMID:19120036|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19251646|PMID:19273734|PMID:19352411|PMID:19449407|PMID:19506109|PMID:19509418|PMID:19568997|PMID:19582499|PMID:19651601|PMID:19706403|PMID:19725129|PMID:19737548|PMID:19760651|PMID:19768645|PMID:19795160|PMID:19825837|PMID:19835954|PMID:19864201|PMID:19927903|PMID:20030748|PMID:20112233|PMID:20186801|PMID:20237506|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:20577567|PMID:2057894|PMID:20578946|PMID:20651068|PMID:20718194|PMID:20852937|PMID:20883402|PMID:20931536|PMID:20954246|PMID:20979190|PMID:21106241|PMID:21204800|PMID:21248739|PMID:21321969|PMID:21339643|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21407260|PMID:21526175|PMID:21533187|PMID:21548061|PMID:21567923|PMID:21590266|PMID:21597774|PMID:21677813|PMID:21680795|PMID:21706501|PMID:21744363|PMID:21747628|PMID:21784453|PMID:21803945|PMID:21901340|PMID:21910226|PMID:21910245|PMID:21930766|PMID:21934682|PMID:22058153|PMID:22190897|PMID:22253195|PMID:22315187|PMID:22371576|PMID:22411627|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22528600|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22822385|PMID:22848035|PMID:22923420|PMID:22959829|PMID:23297836|PMID:23312806|PMID:23317994|PMID:23321623|PMID:23334668|PMID:23446178|PMID:23457302|PMID:23513489|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23726368|PMID:23756559|PMID:23757202|PMID:23771920|PMID:23799168|PMID:23813970|PMID:23825065|PMID:23832011|PMID:23917401|PMID:23957426|PMID:24033266|PMID:24037001|PMID:24039098|PMID:24072241|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24225993|PMID:24401936|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24739123|PMID:24754368|PMID:24767283|PMID:24775816|PMID:24803665|PMID:24820750|PMID:24821303|PMID:24891296|PMID:24896146|PMID:24931631|PMID:24935154|PMID:24939587|PMID:25097206|PMID:25156961|PMID:25231023|PMID:25326635|PMID:25326637|PMID:25331952|PMID:25337068|PMID:25359717|PMID:25363768|PMID:25383899|PMID:25395418|PMID:25500235|PMID:25533962|PMID:25544017 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0080690 RASopathy ISO RGD:731746 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: RASopathy PMID:25585602|PMID:25595571|PMID:25612910|PMID:25695693|PMID:25708222|PMID:25722345|PMID:25724491|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25804457|PMID:25862627|PMID:25884655|PMID:25912702|PMID:25914815|PMID:25917897|PMID:25937001|PMID:26084119|PMID:26203125|PMID:26206283|PMID:26242988|PMID:26337637|PMID:26372199|PMID:26456833|PMID:26457647|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26619011|PMID:26645620|PMID:26673822|PMID:26742426|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26918529|PMID:27030275|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27117572|PMID:27149842|PMID:27153395|PMID:27238887|PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27626068|PMID:27659786|PMID:27683039|PMID:27783593|PMID:27993330|PMID:28051113|PMID:28074573|PMID:28084675|PMID:28098151|PMID:28125078|PMID:28135719|PMID:28166811|PMID:28363362|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561|PMID:28681392|PMID:28921562|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29084544|PMID:29146883|PMID:29214238|PMID:29263817|PMID:29276006|PMID:29437595|PMID:29493581|PMID:29533785|PMID:29555671|PMID:29848529|PMID:29907801|PMID:29988639|PMID:30055033|PMID:30266093|PMID:30287924|PMID:30294303|PMID:30311386|PMID:30355600|PMID:30410095|PMID:30417923|PMID:30455982|PMID:30541462|PMID:30602027|PMID:30604644|PMID:30692697|PMID:30693642|PMID:30732632|PMID:30784236|PMID:30868567|PMID:30896080|PMID:31040167|PMID:31064749|PMID:31134136|PMID:31219622|PMID:31263281|PMID:31324109|PMID:31560489|PMID:31573083|PMID:31637070|PMID:31827275|PMID:32059087|PMID:32164556|PMID:32233106|PMID:32371413|PMID:32581362|PMID:32627857|PMID:32719394|PMID:32860008|PMID:32901917|PMID:32963807|PMID:33091040|PMID:33128510|PMID:34006472|PMID:34008892|PMID:34782754|PMID:4746100|PMID:9491886|PMID:9536098 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0080690 RASopathy ISO RGD:731746 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: RASopathy PMID:10594032|PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12161596|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12739139|PMID:12826400|PMID:12900909|PMID:12960218|PMID:13908956|PMID:14634749|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14974085|PMID:14982869|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15240615|PMID:15248152|PMID:15273746|PMID:15384080|PMID:15385933|PMID:15389709|PMID:15470362|PMID:15520399|PMID:15539800|PMID:15604238|PMID:15689434|PMID:15690106|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15929108|PMID:15940693|PMID:15948193|PMID:15951301|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16032767|PMID:16053901|PMID:16078230|PMID:16115145|PMID:16124853|PMID:16166557|PMID:16199547|PMID:16263833|PMID:16338218|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16399795|PMID:16461457|PMID:16467864|PMID:16488201|PMID:16498234|PMID:16533526|PMID:16557282|PMID:16566035|PMID:16631468|PMID:16638574|PMID:16643459|PMID:16672235|PMID:16679933|PMID:16733669|PMID:16804314|PMID:16830086|PMID:16892325|PMID:16924159|PMID:16987887|PMID:16990350|PMID:17020470|PMID:17052965|PMID:17053061|PMID:17143285|PMID:17177198|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17361219|PMID:17453145|PMID:17497712|PMID:17515436|PMID:17546245|PMID:17576681|PMID:17641779|PMID:17661820|PMID:17697839|PMID:17875892|PMID:17910045|PMID:17927788|PMID:17935252|PMID:17972951|PMID:18080325|PMID:18241070|PMID:18253957|PMID:18260110|PMID:18286234|PMID:18328949|PMID:18331608|PMID:18348260|PMID:18372317|PMID:18373317|PMID:18378677|PMID:18454468|PMID:18470943|PMID:18505544|PMID:18562489|PMID:18678287|PMID:18701506|PMID:18758896|PMID:18759865|PMID:18849586|PMID:18854871|PMID:19008228|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19061217|PMID:19063751|PMID:19077116|PMID:19120036|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19251646|PMID:19273734|PMID:19352411|PMID:19449407|PMID:19506109|PMID:19509418|PMID:19568997|PMID:19582499|PMID:19651601|PMID:19706403|PMID:19725129|PMID:19737548|PMID:19760651|PMID:19768645|PMID:19795160|PMID:19825837|PMID:19835954|PMID:19864201|PMID:19927903|PMID:20030748|PMID:20112233|PMID:20186801|PMID:20237506|PMID:20301303|PMID:20301557|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:20577567|PMID:2057894|PMID:20578946|PMID:20651068|PMID:20718194|PMID:20852937|PMID:20883402|PMID:20931536|PMID:20954246|PMID:20979190|PMID:21106241|PMID:21204800|PMID:21248739|PMID:21321969|PMID:21339643|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21407260|PMID:21526175|PMID:21533187|PMID:21548061|PMID:21567923|PMID:21590266|PMID:21597774|PMID:21677813|PMID:21680795|PMID:21706501|PMID:21744363|PMID:21747628|PMID:21784453|PMID:21803945|PMID:21901340|PMID:21910226|PMID:21910245|PMID:21930766|PMID:21934682|PMID:22058153|PMID:22190897|PMID:22253195|PMID:22315187|PMID:22371576|PMID:22411627|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22528600|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22822385|PMID:22848035|PMID:22923420|PMID:22959829|PMID:23297836|PMID:23312806|PMID:23317994|PMID:23321623|PMID:23334668|PMID:23446178|PMID:23457302|PMID:23513489|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23726368|PMID:23756559|PMID:23757202|PMID:23771920|PMID:23799168|PMID:23813970|PMID:23825065|PMID:23832011|PMID:23917401|PMID:23957426|PMID:24033266|PMID:24037001|PMID:24039098|PMID:24072241|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24225993|PMID:24401936|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24739123|PMID:24754368|PMID:24767283|PMID:24775816|PMID:24803665|PMID:24820750|PMID:24821303|PMID:24891296|PMID:24896146|PMID:24931631|PMID:24935154|PMID:24939587|PMID:25097206|PMID:25156961|PMID:25231023|PMID:25326635|PMID:25326637|PMID:25331952|PMID:25337068|PMID:25359717|PMID:25363768|PMID:25383899|PMID:25395418 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0080690 RASopathy ISO RGD:731746 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: RASopathy PMID:25500235|PMID:25533962|PMID:25544017|PMID:25585602|PMID:25595571|PMID:25612910|PMID:25695693|PMID:25708222|PMID:25722345|PMID:25724491|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25804457|PMID:25862627|PMID:25884655|PMID:25912702|PMID:25914815|PMID:25917897|PMID:25937001|PMID:26084119|PMID:26203125|PMID:26206283|PMID:26242988|PMID:26337637|PMID:26372199|PMID:26456833|PMID:26457647|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26619011|PMID:26645620|PMID:26673822|PMID:26742426|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26918529|PMID:27030275|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27117572|PMID:27149842|PMID:27153395|PMID:27238887|PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27626068|PMID:27659786|PMID:27683039|PMID:27783593|PMID:27993330|PMID:28051113|PMID:28074573|PMID:28084675|PMID:28098151|PMID:28125078|PMID:28135719|PMID:28166811|PMID:28363362|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561|PMID:28681392|PMID:28921562|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29084544|PMID:29146883|PMID:29214238|PMID:29263817|PMID:29276006|PMID:29437595|PMID:29493581|PMID:29533785|PMID:29555671|PMID:29848529|PMID:29907801|PMID:29988639|PMID:30055033|PMID:30266093|PMID:30287924|PMID:30294303|PMID:30311386|PMID:30355600|PMID:30410095|PMID:30417923|PMID:30455982|PMID:30541462|PMID:30602027|PMID:30604644|PMID:30692697|PMID:30693642|PMID:30732632|PMID:30784236|PMID:30868567|PMID:30896080|PMID:31040167|PMID:31064749|PMID:31134136|PMID:31219622|PMID:31263281|PMID:31324109|PMID:31560489|PMID:31573083|PMID:31637070|PMID:31827275|PMID:32059087|PMID:32164556|PMID:32233106|PMID:32371413|PMID:32561839|PMID:32581362|PMID:32627857|PMID:32719394|PMID:32794475|PMID:32860008|PMID:32901917|PMID:32963807|PMID:33091040|PMID:33128510|PMID:34006472|PMID:34008892|PMID:34782754|PMID:4746100|PMID:9491886|PMID:9536098 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0080690 RASopathy ISO RGD:731746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:10594032|PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12161596|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12739139|PMID:12826400|PMID:12900909|PMID:12960218|PMID:13908956|PMID:14634749|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14974085|PMID:14982869|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15211660|PMID:15240615|PMID:15248152|PMID:15273746|PMID:15384080|PMID:15385933|PMID:15389709|PMID:15470362|PMID:15520399|PMID:15521065|PMID:15539800|PMID:15604238|PMID:15644411|PMID:15689434|PMID:15690106|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15929108|PMID:15940693|PMID:15948193|PMID:15951301|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16032767|PMID:16053901|PMID:16078230|PMID:16115145|PMID:16124853|PMID:16166557|PMID:16199547|PMID:16263833|PMID:16338218|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16399795|PMID:16461457|PMID:16467864|PMID:16488201|PMID:16498234|PMID:16518851|PMID:16533526|PMID:16557282|PMID:16566035|PMID:16631468|PMID:16638574|PMID:16643459|PMID:16672235|PMID:16679933|PMID:1672296|PMID:16733669|PMID:16804314|PMID:16830086|PMID:16892325|PMID:16924159|PMID:16987887|PMID:16990350|PMID:17020470|PMID:17052965|PMID:17053061|PMID:17143285|PMID:17177198|PMID:17222357|PMID:17227708|PMID:17301821|PMID:17339163|PMID:17361219|PMID:17453145|PMID:17497712|PMID:17515436|PMID:17546245|PMID:17576681|PMID:17641779|PMID:17661820|PMID:17697839|PMID:17875892|PMID:17910045|PMID:17927788|PMID:17935252|PMID:17972951|PMID:18080325|PMID:18241070|PMID:18253957|PMID:18260110|PMID:18286234|PMID:18328949|PMID:18331608|PMID:18348260|PMID:18372317|PMID:18373317|PMID:18378677|PMID:18454468|PMID:18470943|PMID:18505544|PMID:18562489|PMID:18678287|PMID:18701506|PMID:18758896|PMID:18759865|PMID:18849586|PMID:18854871|PMID:19008228|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19061217|PMID:19063751|PMID:19077116|PMID:19120036|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19251646|PMID:19260062|PMID:19273734|PMID:19352411|PMID:19449407|PMID:19506109|PMID:19509418|PMID:19568997|PMID:19582499|PMID:19621452|PMID:19651601|PMID:19659470|PMID:19706403|PMID:19725129|PMID:19737548|PMID:19760651|PMID:19768645|PMID:19795160|PMID:19825837|PMID:19835954|PMID:19864201|PMID:19927903|PMID:20030748|PMID:20112233|PMID:20186801|PMID:20237506|PMID:20301303|PMID:20301557|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:20543023|PMID:20577567|PMID:2057894|PMID:20578946|PMID:20651068|PMID:20718194|PMID:20852937|PMID:20883402|PMID:20931536|PMID:20954246|PMID:20979190|PMID:21106241|PMID:21204800|PMID:21248739|PMID:21321969|PMID:21339643|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21407260|PMID:21526175|PMID:21533187|PMID:21548061|PMID:21567923|PMID:21590266|PMID:21597774|PMID:21677813|PMID:21680795|PMID:21706501|PMID:21744363|PMID:21747628|PMID:21784453|PMID:21803945|PMID:21901340|PMID:21910226|PMID:21910245|PMID:21930766|PMID:21934682|PMID:22058153|PMID:22097954|PMID:22190897|PMID:22253195|PMID:22315187|PMID:22371576|PMID:22411627|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22528600|PMID:22551697|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22822385|PMID:22847776|PMID:22848035|PMID:22923420|PMID:22959829|PMID:23297836|PMID:23312806|PMID:23317994|PMID:23321623|PMID:23334668|PMID:23446178|PMID:23457302|PMID:23513489|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23726368|PMID:23756559|PMID:23771920|PMID:23799168|PMID:23813970|PMID:23825065|PMID:23832011|PMID:23917401|PMID:23957426|PMID:23996481|PMID:24033266|PMID:24037001|PMID:24039098|PMID:24072241|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24225993|PMID:24401936|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24739123|PMID:24754368|PMID:24767283|PMID:24775816|PMID:24790373|PMID:24803665|PMID:24820750|PMID:24821303|PMID:24891296|PMID:24896146 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0080690 RASopathy ISO RGD:731746 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:24931631|PMID:24935154|PMID:24939587|PMID:25039348|PMID:25097206|PMID:25156961|PMID:25231023|PMID:25326635|PMID:25326637|PMID:25331952|PMID:25337068|PMID:25359717|PMID:25363768|PMID:25383899|PMID:25395418|PMID:25425531|PMID:25500235|PMID:25533962|PMID:25544017|PMID:25585602|PMID:25595571|PMID:25612910|PMID:2564168|PMID:25695693|PMID:25708222|PMID:25722345|PMID:25724491|PMID:2572450|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25742478|PMID:25802336|PMID:25804457|PMID:25862627|PMID:25884655|PMID:25912702|PMID:25914815|PMID:25917897|PMID:25937001|PMID:26084119|PMID:26203125|PMID:26206283|PMID:26242988|PMID:26337637|PMID:26372199|PMID:26456833|PMID:26457647|PMID:26467025|PMID:26495027|PMID:26556299|PMID:26607044|PMID:26619011|PMID:26645620|PMID:26673822|PMID:26742426|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26833328|PMID:26918529|PMID:27030275|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27117572|PMID:27149842|PMID:27153395|PMID:27238887|PMID:27259537|PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27626068|PMID:27659786|PMID:27683039|PMID:27763634|PMID:27783593|PMID:27876779|PMID:27959697|PMID:27993330|PMID:28051113|PMID:28074573|PMID:28084675|PMID:28098151|PMID:28125078|PMID:28135719|PMID:28363362|PMID:28366775|PMID:28378436|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561|PMID:28681392|PMID:28748642|PMID:28921562|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29038591|PMID:29084544|PMID:29146883|PMID:29214238|PMID:29263817|PMID:29276006|PMID:29346770|PMID:29437595|PMID:29493581|PMID:29533785|PMID:29555671|PMID:29602897|PMID:29703613|PMID:29848529|PMID:29907801|PMID:29988639|PMID:30025578|PMID:30050098|PMID:30055033|PMID:30266093|PMID:30287924|PMID:30294303|PMID:30311386|PMID:30325180|PMID:30355600|PMID:30375388|PMID:30410095|PMID:30417923|PMID:30455982|PMID:30515541|PMID:30541462|PMID:30577886|PMID:30602027|PMID:30604644|PMID:30692697|PMID:30693642|PMID:30732632|PMID:30784236|PMID:30868567|PMID:30896080|PMID:30919686|PMID:31040167|PMID:31064749|PMID:31134136|PMID:31219622|PMID:31259454|PMID:31263281|PMID:31324109|PMID:31560489|PMID:31573083|PMID:31637070|PMID:31827275|PMID:32059087|PMID:32164556|PMID:32233106|PMID:32371413|PMID:32410215|PMID:32561839|PMID:32581362|PMID:32627857|PMID:32719394|PMID:32737134|PMID:32746448|PMID:32794475|PMID:32824488|PMID:32832832|PMID:32860008|PMID:32901917|PMID:32963807|PMID:33091040|PMID:33128510|PMID:33568805|PMID:33619735|PMID:34006472|PMID:34008892|PMID:34136434|PMID:34143244|PMID:34184824|PMID:34782754|PMID:4746100|PMID:9491886|PMID:9536098|PMID:9751050 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0080690 RASopathy ISO RGD:731746 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:10594032|PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12161596|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12739139|PMID:12826400|PMID:12900909|PMID:12960218|PMID:13908956|PMID:14634749|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14974085|PMID:14982869|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15211660|PMID:15240615|PMID:15248152|PMID:15273746|PMID:15384080|PMID:15385933|PMID:15389709|PMID:15470362|PMID:15520399|PMID:15521065|PMID:15539800|PMID:15604238|PMID:15644411|PMID:15689434|PMID:15690106|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15929108|PMID:15940693|PMID:15948193|PMID:15951301|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16032767|PMID:16053901|PMID:16078230|PMID:16115145|PMID:16124853|PMID:16166557|PMID:16199547|PMID:16263833|PMID:16338218|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16399795|PMID:16461457|PMID:16467864|PMID:16488201|PMID:16498234|PMID:16518851|PMID:16533526|PMID:16557282|PMID:16566035|PMID:16631468|PMID:16638574|PMID:16643459|PMID:16672235|PMID:16679933|PMID:1672296|PMID:16733669|PMID:16804314|PMID:16830086|PMID:16892325|PMID:16924159|PMID:16987887|PMID:16990350|PMID:17020470|PMID:17052965|PMID:17053061|PMID:17143285|PMID:17177198|PMID:17222357|PMID:17227708|PMID:17301821|PMID:17339163|PMID:17361219|PMID:17453145|PMID:17497712|PMID:17515436|PMID:17546245|PMID:17576681|PMID:17641779|PMID:17661820|PMID:17697839|PMID:17875892|PMID:17910045|PMID:17927788|PMID:17935252|PMID:17972951|PMID:18080325|PMID:18241070|PMID:18253957|PMID:18260110|PMID:18286234|PMID:18328949|PMID:18331608|PMID:18348260|PMID:18372317|PMID:18373317|PMID:18378677|PMID:18454468|PMID:18470943|PMID:18505544|PMID:18562489|PMID:18678287|PMID:18701506|PMID:18758896|PMID:18759865|PMID:18849586|PMID:18854871|PMID:19008228|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19061217|PMID:19063751|PMID:19077116|PMID:19120036|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19251646|PMID:19260062|PMID:19273734|PMID:19352411|PMID:19449407|PMID:19506109|PMID:19509418|PMID:19568997|PMID:19582499|PMID:19621452|PMID:19651601|PMID:19659470|PMID:19706403|PMID:19725129|PMID:19737548|PMID:19760651|PMID:19768645|PMID:19795160|PMID:19825837|PMID:19835954|PMID:19864201|PMID:19927903|PMID:20030748|PMID:20112233|PMID:20186801|PMID:20237506|PMID:20301303|PMID:20301557|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:20543023|PMID:20577567|PMID:2057894|PMID:20578946|PMID:20651068|PMID:20718194|PMID:20852937|PMID:20883402|PMID:20931536|PMID:20954246|PMID:20979190|PMID:21106241|PMID:21204800|PMID:21248739|PMID:21321969|PMID:21339643|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21407260|PMID:21526175|PMID:21533187|PMID:21548061|PMID:21567923|PMID:21590266|PMID:21597774|PMID:21677813|PMID:21680795|PMID:21706501|PMID:21744363|PMID:21747628|PMID:21784453|PMID:21803945|PMID:21901340|PMID:21910226|PMID:21910245|PMID:21930766|PMID:21934682|PMID:22058153|PMID:22097954|PMID:22190897|PMID:22253195|PMID:22315187|PMID:22371576|PMID:22411627|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22528600|PMID:22551697|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22822385|PMID:22847776|PMID:22848035|PMID:22923420|PMID:22959829|PMID:23297836|PMID:23312806|PMID:23317994|PMID:23321623|PMID:23334666|PMID:23334668|PMID:23446178|PMID:23457302|PMID:23513489|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23726368|PMID:23756559|PMID:23771920|PMID:23799168|PMID:23813970|PMID:23825065|PMID:23832011|PMID:23917401|PMID:23957426|PMID:23996481|PMID:24033266|PMID:24037001|PMID:24039098|PMID:24072241|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24225993|PMID:24401936|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24739123|PMID:24754368|PMID:24767283|PMID:24775816|PMID:24790373|PMID:24803665|PMID:24820750|PMID:24821303|PMID:24891296 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0080690 RASopathy ISO RGD:731746 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:24896146|PMID:24931631|PMID:24935154|PMID:24939587|PMID:25039348|PMID:25097206|PMID:25156961|PMID:25231023|PMID:25326635|PMID:25326637|PMID:25331952|PMID:25337068|PMID:25359717|PMID:25363768|PMID:25383899|PMID:25395418|PMID:25425531|PMID:25500235|PMID:25533962|PMID:25544017|PMID:25585602|PMID:25595571|PMID:25612910|PMID:2564168|PMID:25695693|PMID:25708222|PMID:25722345|PMID:25724491|PMID:2572450|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25742478|PMID:25802336|PMID:25804457|PMID:25862627|PMID:25884655|PMID:25912702|PMID:25914815|PMID:25917897|PMID:25937001|PMID:26084119|PMID:26203125|PMID:26206283|PMID:26223499|PMID:26242988|PMID:26337637|PMID:26372199|PMID:26456833|PMID:26457647|PMID:26467025|PMID:26495027|PMID:26556299|PMID:26607044|PMID:26619011|PMID:26645620|PMID:26673822|PMID:26742426|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26833328|PMID:26918529|PMID:27030275|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27117572|PMID:27149842|PMID:27153395|PMID:27193571|PMID:27238887|PMID:27259537|PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27626068|PMID:27659786|PMID:27683039|PMID:27763634|PMID:27783593|PMID:27876779|PMID:27959697|PMID:27993330|PMID:28051113|PMID:28074573|PMID:28084675|PMID:28098151|PMID:28125078|PMID:28135719|PMID:28363362|PMID:28366775|PMID:28378436|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561|PMID:28681392|PMID:28748642|PMID:28921562|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29038591|PMID:29084544|PMID:29146883|PMID:29214238|PMID:29263817|PMID:29276006|PMID:29346770|PMID:29437595|PMID:29493581|PMID:29533785|PMID:29555671|PMID:29602897|PMID:29703613|PMID:29848529|PMID:29907801|PMID:29988639|PMID:30025578|PMID:30050098|PMID:30055033|PMID:30266093|PMID:30287924|PMID:30294303|PMID:30311386|PMID:30325180|PMID:30355600|PMID:30375388|PMID:30410095|PMID:30417923|PMID:30455982|PMID:30515541|PMID:30541462|PMID:30577886|PMID:30602027|PMID:30604644|PMID:30692697|PMID:30693642|PMID:30732632|PMID:30784236|PMID:30868567|PMID:30896080|PMID:30919686|PMID:31040167|PMID:31064749|PMID:31134136|PMID:31219622|PMID:31259454|PMID:31263281|PMID:31324109|PMID:31560489|PMID:31573083|PMID:31637070|PMID:31827275|PMID:32059087|PMID:32164556|PMID:32233106|PMID:32371413|PMID:32410215|PMID:32561839|PMID:32581362|PMID:32627857|PMID:32719394|PMID:32737134|PMID:32746448|PMID:32794475|PMID:32824488|PMID:32832832|PMID:32860008|PMID:32901917|PMID:32963807|PMID:33091040|PMID:33128510|PMID:33318624|PMID:33568805|PMID:33619735|PMID:34006472|PMID:34008892|PMID:34136434|PMID:34143244|PMID:34184824|PMID:34782754|PMID:4746100|PMID:9491886|PMID:9536098|PMID:9751050 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0080690 RASopathy ISO RGD:731746 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: RASopathy PMID:24820750|PMID:24821303|PMID:24891296|PMID:24896146|PMID:24931631|PMID:24935154|PMID:24939587|PMID:25039348|PMID:25097206|PMID:25156961|PMID:25231023|PMID:25326635|PMID:25326637|PMID:25331952|PMID:25337068|PMID:25359717|PMID:25363768|PMID:25383899|PMID:25395418|PMID:25425531|PMID:25500235|PMID:25533962|PMID:25544017|PMID:25585602|PMID:25595571|PMID:25612910|PMID:2564168|PMID:25695693|PMID:25708222|PMID:25722345|PMID:25724491|PMID:2572450|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25742478|PMID:25802336|PMID:25804457|PMID:25862627|PMID:25884655|PMID:25912702|PMID:25914815|PMID:25917897|PMID:25937001|PMID:26084119|PMID:26206283|PMID:26223499|PMID:26242988|PMID:26337637|PMID:26372199|PMID:26456833|PMID:26457647|PMID:26467025|PMID:26495027|PMID:26556299|PMID:26607044|PMID:26619011|PMID:26645620|PMID:26673822|PMID:26742426|PMID:26783207|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26833328|PMID:26918529|PMID:27030275|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27117572|PMID:27149842|PMID:27153395|PMID:27193571|PMID:27238887|PMID:27259537|PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27626068|PMID:27659786|PMID:27683039|PMID:27763634|PMID:27783593|PMID:27876779|PMID:27959697|PMID:27993330|PMID:28051113|PMID:28074573|PMID:28084675|PMID:28098151|PMID:28125078|PMID:28135719|PMID:28363362|PMID:28366775|PMID:28378436|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561|PMID:28681392|PMID:28748642|PMID:28921562|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29038591|PMID:29084544|PMID:29146883|PMID:29214238|PMID:29263817|PMID:29276006|PMID:29346770|PMID:29437595|PMID:29493581|PMID:29533785|PMID:29555671|PMID:29602897|PMID:29703613|PMID:29848529|PMID:29907801|PMID:29988639|PMID:30025578|PMID:30050098|PMID:30055033|PMID:30266093|PMID:30287924|PMID:30294303|PMID:30311386|PMID:30325180|PMID:30355600|PMID:30375388|PMID:30410095|PMID:30417923|PMID:30455982|PMID:30515541|PMID:30541462|PMID:30577886|PMID:30602027|PMID:30604644|PMID:30692697|PMID:30693642|PMID:30732632|PMID:30784236|PMID:30868567|PMID:30896080|PMID:30919686|PMID:31040167|PMID:31064749|PMID:31134136|PMID:31219622|PMID:31259454|PMID:31263281|PMID:31324109|PMID:31560489|PMID:31573083|PMID:31637070|PMID:31827275|PMID:32059087|PMID:32164556|PMID:32233106|PMID:32371413|PMID:32410215|PMID:32561839|PMID:32581362|PMID:32627857|PMID:32719394|PMID:32737134|PMID:32746448|PMID:32794475|PMID:32824488|PMID:32832832|PMID:32860008|PMID:32901917|PMID:32963807|PMID:33091040|PMID:33128510|PMID:33318624|PMID:33568805|PMID:33619735|PMID:34006472|PMID:34008892|PMID:34136434|PMID:34143244|PMID:34184824|PMID:34782754|PMID:35904599|PMID:36349709|PMID:4746100|PMID:9491886|PMID:9536098|PMID:9751050 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0080690 RASopathy ISO RGD:731746 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: RASopathy PMID:10594032|PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12161596|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12739139|PMID:12826400|PMID:12900909|PMID:12960218|PMID:13908956|PMID:14634749|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14974085|PMID:14982869|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15211660|PMID:15240615|PMID:15248152|PMID:15273746|PMID:15384080|PMID:15385933|PMID:15389709|PMID:15470362|PMID:15520399|PMID:15539800|PMID:15604238|PMID:15644411|PMID:15689434|PMID:15690106|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15929108|PMID:15940693|PMID:15948193|PMID:15951301|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16053901|PMID:16078230|PMID:16115145|PMID:16124853|PMID:16166557|PMID:16199547|PMID:16263833|PMID:16338218|PMID:1635821|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16399795|PMID:16461457|PMID:16467864|PMID:16488201|PMID:16498234|PMID:16518851|PMID:16523510|PMID:16533526|PMID:16557282|PMID:16631468|PMID:16638574|PMID:16643459|PMID:16672235|PMID:16679933|PMID:1672296|PMID:16733669|PMID:16804314|PMID:16830086|PMID:16892325|PMID:16924159|PMID:16987887|PMID:16990350|PMID:17020470|PMID:17052965|PMID:17053061|PMID:17143285|PMID:17177198|PMID:17222357|PMID:17227708|PMID:17301821|PMID:17339163|PMID:17361219|PMID:17453145|PMID:17497712|PMID:17515436|PMID:17546245|PMID:17576681|PMID:17641779|PMID:17661820|PMID:17697839|PMID:17875892|PMID:17910045|PMID:17927788|PMID:17935252|PMID:17942397|PMID:17972951|PMID:18080325|PMID:18241070|PMID:18253957|PMID:18260110|PMID:18286234|PMID:18328949|PMID:18331608|PMID:18348260|PMID:18372317|PMID:18373317|PMID:18378677|PMID:18454468|PMID:18470943|PMID:18505544|PMID:18559669|PMID:18562489|PMID:18678287|PMID:18701506|PMID:18758896|PMID:18759865|PMID:18849586|PMID:18854871|PMID:19008228|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19061217|PMID:19063751|PMID:19077116|PMID:19120036|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19251646|PMID:19260062|PMID:19273734|PMID:19352411|PMID:19449407|PMID:19506109|PMID:19509418|PMID:19568997|PMID:19582499|PMID:19621452|PMID:19651601|PMID:19659470|PMID:19706403|PMID:19725129|PMID:19737548|PMID:19760651|PMID:19768645|PMID:19795160|PMID:19798502|PMID:19825837|PMID:19835954|PMID:19864201|PMID:19927903|PMID:20030748|PMID:20112233|PMID:20186801|PMID:20237506|PMID:20301303|PMID:20301557|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:20543023|PMID:20577567|PMID:2057894|PMID:20578946|PMID:20651068|PMID:20718194|PMID:20852937|PMID:20883402|PMID:20931536|PMID:20954246|PMID:20979190|PMID:21106241|PMID:21204800|PMID:21248739|PMID:21321969|PMID:21339643|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21407260|PMID:21526175|PMID:21533187|PMID:21548061|PMID:21567923|PMID:21590266|PMID:21677813|PMID:21680795|PMID:21706501|PMID:21744363|PMID:21747628|PMID:21784453|PMID:21803945|PMID:21901340|PMID:21910226|PMID:21910245|PMID:21930766|PMID:21934682|PMID:22058153|PMID:22097954|PMID:22190897|PMID:22253195|PMID:22315187|PMID:22371576|PMID:22411627|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22528600|PMID:22551697|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22822385|PMID:22847776|PMID:22848035|PMID:22923420|PMID:22959829|PMID:23297836|PMID:23312806|PMID:23317994|PMID:23321623|PMID:23334666|PMID:23334668|PMID:23446178|PMID:23457302|PMID:23513489|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23726368|PMID:23756559|PMID:23771920|PMID:23799168|PMID:23813970|PMID:23825065|PMID:23832011|PMID:23917401|PMID:23957426|PMID:23996481|PMID:24033266|PMID:24037001|PMID:24039098|PMID:24072241|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24225993|PMID:24401936|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24739123|PMID:24754368|PMID:24767283|PMID:24775816|PMID:24790373|PMID:24803665|PMID:24820750|PMID:24821303|PMID:24891296 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0080690 RASopathy ISO RGD:731746 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: RASopathy PMID:24896146|PMID:24931631|PMID:24935154|PMID:24939587|PMID:25039348|PMID:25097206|PMID:25156961|PMID:25231023|PMID:25326635|PMID:25326637|PMID:25331952|PMID:25337068|PMID:25359717|PMID:25383899|PMID:25395418|PMID:25425531|PMID:25500235|PMID:25533962|PMID:25544017|PMID:25585602|PMID:25595571|PMID:25612910|PMID:2564168|PMID:25695693|PMID:25708222|PMID:25722345|PMID:25724491|PMID:2572450|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25741909|PMID:25741913|PMID:25741915|PMID:25742478|PMID:25802336|PMID:25804457|PMID:25862627|PMID:25884655|PMID:25912702|PMID:25914815|PMID:25917897|PMID:25937001|PMID:26084119|PMID:26206283|PMID:26223499|PMID:26242988|PMID:26286251|PMID:26337637|PMID:26372199|PMID:26456833|PMID:26457647|PMID:26467025|PMID:26495027|PMID:26556299|PMID:26607044|PMID:26619011|PMID:26645620|PMID:26673822|PMID:26742426|PMID:26783207|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26833328|PMID:26918529|PMID:27030275|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27117572|PMID:27149842|PMID:27153395|PMID:27193571|PMID:27238887|PMID:27259537|PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27626068|PMID:27659786|PMID:27683039|PMID:27763634|PMID:27783593|PMID:27876779|PMID:27959697|PMID:27993330|PMID:28051113|PMID:28074573|PMID:28084675|PMID:28098151|PMID:28125078|PMID:28135719|PMID:28363362|PMID:28378436|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561|PMID:28681392|PMID:28748642|PMID:28921562|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29038591|PMID:29057136|PMID:29084544|PMID:29146883|PMID:29214238|PMID:29263817|PMID:29276006|PMID:29346770|PMID:29437595|PMID:29493581|PMID:29517769|PMID:29533785|PMID:29555671|PMID:29602897|PMID:29703613|PMID:29848529|PMID:29907801|PMID:29988639|PMID:30025578|PMID:30050098|PMID:30055033|PMID:30266093|PMID:30287924|PMID:30294303|PMID:30311386|PMID:30325180|PMID:30355600|PMID:30375388|PMID:30410095|PMID:30417923|PMID:30455982|PMID:30515541|PMID:30541462|PMID:30577886|PMID:30602027|PMID:30604644|PMID:30692697|PMID:30693642|PMID:30732632|PMID:30784236|PMID:30868567|PMID:30896080|PMID:30919686|PMID:31040167|PMID:31064749|PMID:31219622|PMID:31259454|PMID:31263281|PMID:31324109|PMID:31370276|PMID:31560489|PMID:31573083|PMID:31637070|PMID:31827275|PMID:32059087|PMID:32112654|PMID:32164556|PMID:32233106|PMID:32371413|PMID:32410215|PMID:32561839|PMID:32581362|PMID:32627857|PMID:32719394|PMID:32737134|PMID:32746448|PMID:32786180|PMID:32794475|PMID:32824488|PMID:32832832|PMID:32860008|PMID:32901917|PMID:32963807|PMID:33091040|PMID:33128510|PMID:33318624|PMID:33568805|PMID:33619735|PMID:33726816|PMID:34006472|PMID:34008892|PMID:34136434|PMID:34143244|PMID:34184824|PMID:34358384|PMID:34589056|PMID:34782754|PMID:35418823|PMID:35616356|PMID:35885957|PMID:35904599|PMID:35979676|PMID:36349709|PMID:4746100|PMID:9491886|PMID:9536098|PMID:9751050 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0080690 RASopathy ISO RGD:731746 D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: RASopathy PMID:25097206|PMID:25156961|PMID:25231023|PMID:25326635|PMID:25326637|PMID:25337068|PMID:25359717|PMID:25383899|PMID:25395418|PMID:25425531|PMID:25500235|PMID:25533962|PMID:25544017|PMID:25585602|PMID:25595571|PMID:25612910|PMID:2564168|PMID:25695693|PMID:25708222|PMID:25722345|PMID:25724491|PMID:2572450|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25742478|PMID:25802336|PMID:25804457|PMID:25862627|PMID:25884655|PMID:25912702|PMID:25914815|PMID:25917897|PMID:25937001|PMID:26084119|PMID:26206283|PMID:26223499|PMID:26242988|PMID:26286251|PMID:26337637|PMID:26372199|PMID:26456833|PMID:26457647|PMID:26467025|PMID:26495027|PMID:26556299|PMID:26607044|PMID:26619011|PMID:26633542|PMID:26645620|PMID:26673822|PMID:26742426|PMID:26783207|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26833328|PMID:26918529|PMID:27030275|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27117572|PMID:27149842|PMID:27153395|PMID:27193571|PMID:27238887|PMID:27259537|PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27626068|PMID:27659786|PMID:27683039|PMID:27763634|PMID:27783593|PMID:27876779|PMID:27959697|PMID:27993330|PMID:28051113|PMID:28074573|PMID:28084675|PMID:28098151|PMID:28125078|PMID:28135719|PMID:28363362|PMID:28378436|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561|PMID:28681392|PMID:28748642|PMID:28911804|PMID:28921562|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29038591|PMID:29057136|PMID:29084544|PMID:29146883|PMID:29155585|PMID:29212898|PMID:29214238|PMID:29263817|PMID:29276006|PMID:29346770|PMID:29356064|PMID:29437595|PMID:29493581|PMID:29517769|PMID:29533785|PMID:29555671|PMID:29602897|PMID:29620724|PMID:29693080|PMID:29703613|PMID:29848529|PMID:29907801|PMID:29988639|PMID:30025578|PMID:30029678|PMID:30050098|PMID:30055033|PMID:30105547|PMID:30287924|PMID:30294303|PMID:30311386|PMID:30325180|PMID:30355600|PMID:30375388|PMID:30410095|PMID:30417923|PMID:30455982|PMID:30515541|PMID:30541462|PMID:30577886|PMID:30602027|PMID:30604644|PMID:30692697|PMID:30693642|PMID:30732632|PMID:30784236|PMID:30868567|PMID:30896080|PMID:30919686|PMID:31040167|PMID:31064749|PMID:31219622|PMID:31259454|PMID:31263281|PMID:31324109|PMID:31370276|PMID:31560489|PMID:31564432|PMID:31573083|PMID:31637070|PMID:31827275|PMID:32059087|PMID:32112654|PMID:32164556|PMID:32233106|PMID:32371413|PMID:32410215|PMID:32561839|PMID:32581362|PMID:32719394|PMID:32737134|PMID:3274644|PMID:32746448|PMID:32786180|PMID:32794475|PMID:32824488|PMID:32832832|PMID:32860008|PMID:32901917|PMID:32963807|PMID:33091040|PMID:33128510|PMID:33318624|PMID:33568805|PMID:33619735|PMID:33726816|PMID:33811550|PMID:34006472|PMID:34008892|PMID:34136434|PMID:34143244|PMID:34184824|PMID:34194850|PMID:34356170|PMID:34358384|PMID:34411415|PMID:34589056|PMID:34782754|PMID:35248088|PMID:35418823|PMID:35616356|PMID:35885957|PMID:35904599|PMID:35979676|PMID:36349709|PMID:36567979|PMID:37019085|PMID:37568403|PMID:4746100|PMID:9491886|PMID:9536098|PMID:9751050 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0080690 RASopathy ISO RGD:731746 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:10594032|PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12161596|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12739139|PMID:12826400|PMID:12900909|PMID:12960218|PMID:13908956|PMID:14634749|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14974085|PMID:14982869|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15211660|PMID:15240615|PMID:15248152|PMID:15273746|PMID:15384080|PMID:15385933|PMID:15389709|PMID:15470362|PMID:15520399|PMID:15539800|PMID:15604238|PMID:15644411|PMID:15689434|PMID:15690106|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15929108|PMID:15940693|PMID:15948193|PMID:15951301|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16053901|PMID:16115145|PMID:16124853|PMID:16166557|PMID:16199547|PMID:16263833|PMID:16338218|PMID:1635821|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16399795|PMID:16461457|PMID:16467864|PMID:16488201|PMID:16498234|PMID:16518851|PMID:16523510|PMID:16533526|PMID:16557282|PMID:16631468|PMID:16638574|PMID:16643459|PMID:16679933|PMID:1672296|PMID:16733669|PMID:16804314|PMID:16830086|PMID:16892325|PMID:16924159|PMID:16987887|PMID:16990350|PMID:17020470|PMID:17052965|PMID:17053061|PMID:17143285|PMID:17177198|PMID:17222357|PMID:17227708|PMID:17301821|PMID:17339163|PMID:17361219|PMID:17453145|PMID:17497712|PMID:17515436|PMID:17546245|PMID:17576681|PMID:17641779|PMID:17661820|PMID:17697839|PMID:17875892|PMID:17910045|PMID:17927788|PMID:17935252|PMID:17942397|PMID:17972951|PMID:18080325|PMID:18241070|PMID:18253957|PMID:18260110|PMID:18286234|PMID:18328949|PMID:18331608|PMID:18348260|PMID:18372317|PMID:18373317|PMID:18378677|PMID:18454468|PMID:18470943|PMID:18505544|PMID:18559669|PMID:18562489|PMID:18678287|PMID:18701506|PMID:18758896|PMID:18759865|PMID:18849586|PMID:18854871|PMID:19008228|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19061217|PMID:19063751|PMID:19077116|PMID:19120036|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19251646|PMID:19260062|PMID:19273734|PMID:19352411|PMID:19449407|PMID:19506109|PMID:19509418|PMID:19568997|PMID:19582499|PMID:19621452|PMID:19651601|PMID:19659470|PMID:19706403|PMID:19725129|PMID:19737548|PMID:19760651|PMID:19768645|PMID:19795160|PMID:19798502|PMID:19825837|PMID:19835954|PMID:19864201|PMID:19927903|PMID:20030748|PMID:20112233|PMID:20186801|PMID:20237506|PMID:20301303|PMID:20301557|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:20543023|PMID:20577567|PMID:2057894|PMID:20578946|PMID:20651068|PMID:20718194|PMID:20852937|PMID:20883402|PMID:20954246|PMID:20979190|PMID:21106241|PMID:21204800|PMID:21248739|PMID:21321969|PMID:21339643|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21396583|PMID:21407260|PMID:21526175|PMID:21533187|PMID:21548061|PMID:21567923|PMID:21590266|PMID:21677813|PMID:21680795|PMID:21747628|PMID:21784453|PMID:21803945|PMID:21901340|PMID:21910226|PMID:21910245|PMID:21930766|PMID:21934682|PMID:22058153|PMID:22097954|PMID:22190897|PMID:22253195|PMID:22315187|PMID:22371576|PMID:22411627|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22528600|PMID:22551697|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22822385|PMID:22847776|PMID:22848035|PMID:22923420|PMID:22959829|PMID:23297836|PMID:23312806|PMID:23317994|PMID:23321623|PMID:23334666|PMID:23334668|PMID:23446178|PMID:23457302|PMID:23513489|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23726368|PMID:23756559|PMID:23771920|PMID:23799168|PMID:23813970|PMID:23825065|PMID:23832011|PMID:23917401|PMID:23957426|PMID:23996481|PMID:24033266|PMID:24037001|PMID:24039098|PMID:24072241|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24225993|PMID:24401936|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24739123|PMID:24754368|PMID:24767283|PMID:24775816|PMID:24790373|PMID:24803665|PMID:24820750|PMID:24821303|PMID:24891296|PMID:24896146|PMID:24931631|PMID:24935154|PMID:24939587 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0080690 RASopathy ISO RGD:731746 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:25039348|PMID:25097206|PMID:25156961|PMID:25231023|PMID:25326635|PMID:25326637|PMID:25337068|PMID:25359717|PMID:25383899|PMID:25395418|PMID:25425531|PMID:25500235|PMID:25533962|PMID:25544017|PMID:25585602|PMID:25595571|PMID:25612910|PMID:2564168|PMID:25695693|PMID:25708222|PMID:25722345|PMID:25724491|PMID:2572450|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25742478|PMID:25802336|PMID:25804457|PMID:25862627|PMID:25884655|PMID:25912702|PMID:25914815|PMID:25917897|PMID:25937001|PMID:26084119|PMID:26206283|PMID:26223499|PMID:26242988|PMID:26286251|PMID:26337637|PMID:26372199|PMID:26456833|PMID:26457647|PMID:26467025|PMID:26495027|PMID:26556299|PMID:26607044|PMID:26619011|PMID:26633542|PMID:26645620|PMID:26673822|PMID:26742426|PMID:26783207|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26833328|PMID:26918529|PMID:27030275|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27117572|PMID:27149842|PMID:27153395|PMID:27193571|PMID:27238887|PMID:27259537|PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27626068|PMID:27659786|PMID:27683039|PMID:27763634|PMID:27783593|PMID:27876779|PMID:27959697|PMID:27993330|PMID:28051113|PMID:28074573|PMID:28084675|PMID:28098151|PMID:28125078|PMID:28135719|PMID:28363362|PMID:28378436|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561|PMID:28681392|PMID:28748642|PMID:28911804|PMID:28921562|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29038591|PMID:29057136|PMID:29084544|PMID:29146883|PMID:29212898|PMID:29214238|PMID:29263817|PMID:29276006|PMID:29346770|PMID:29356064|PMID:29437595|PMID:29493581|PMID:29517769|PMID:29533785|PMID:29555671|PMID:29602897|PMID:29620724|PMID:29693080|PMID:29703613|PMID:29848529|PMID:29907801|PMID:29988639|PMID:30025578|PMID:30029678|PMID:30050098|PMID:30055033|PMID:30105547|PMID:30287924|PMID:30294303|PMID:30311386|PMID:30325180|PMID:30355600|PMID:30375388|PMID:30410095|PMID:30417923|PMID:30455982|PMID:30515541|PMID:30541462|PMID:30577886|PMID:30602027|PMID:30604644|PMID:30692697|PMID:30693642|PMID:30732632|PMID:30784236|PMID:30868567|PMID:30896080|PMID:30919686|PMID:31040167|PMID:31064749|PMID:31164752|PMID:31219622|PMID:31259454|PMID:31263281|PMID:31324109|PMID:31370276|PMID:31560489|PMID:31562133|PMID:31564432|PMID:31573083|PMID:31637070|PMID:31827275|PMID:31941532|PMID:32059087|PMID:32112654|PMID:32164556|PMID:32233106|PMID:32368696|PMID:32371413|PMID:32410215|PMID:32561839|PMID:32581362|PMID:32719394|PMID:32737134|PMID:3274644|PMID:32746448|PMID:32786180|PMID:32794475|PMID:32824488|PMID:32832832|PMID:32860008|PMID:32901917|PMID:32963807|PMID:33091040|PMID:33128510|PMID:33318624|PMID:33568805|PMID:33619735|PMID:33726816|PMID:33811550|PMID:34006472|PMID:34008892|PMID:34136434|PMID:34143244|PMID:34184824|PMID:34194850|PMID:34356170|PMID:34358384|PMID:34411415|PMID:34589056|PMID:34782754|PMID:35248088|PMID:35418823|PMID:35616356|PMID:35858754|PMID:35885957|PMID:35904599|PMID:35979676|PMID:36135330|PMID:36349709|PMID:36474027|PMID:36496429|PMID:36567979|PMID:37019085|PMID:37568403|PMID:39033378|PMID:4746100|PMID:9491886|PMID:9536098|PMID:9751050 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0080690 RASopathy ISO RGD:731746 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:25039348|PMID:25097206|PMID:25156961|PMID:25231023|PMID:25326635|PMID:25326637|PMID:25337068|PMID:25359717|PMID:25383899|PMID:25395418|PMID:25425531|PMID:25500235|PMID:25533962|PMID:25544017|PMID:25595571|PMID:25612910|PMID:2564168|PMID:25695693|PMID:25708222|PMID:25722345|PMID:25724491|PMID:2572450|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25742478|PMID:25802336|PMID:25804457|PMID:25862627|PMID:25884655|PMID:25912702|PMID:25914815|PMID:25917897|PMID:25937001|PMID:26084119|PMID:26206283|PMID:26223499|PMID:26242988|PMID:26286251|PMID:26337637|PMID:26372199|PMID:26456833|PMID:26457647|PMID:26467025|PMID:26495027|PMID:26556299|PMID:26607044|PMID:26619011|PMID:26633542|PMID:26645620|PMID:26673822|PMID:26742426|PMID:26783207|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26833328|PMID:26918529|PMID:27030275|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27117572|PMID:27149842|PMID:27153395|PMID:27193571|PMID:27238887|PMID:27259537|PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27626068|PMID:27659786|PMID:27683039|PMID:27763634|PMID:27783593|PMID:27876779|PMID:27959697|PMID:27993330|PMID:28051113|PMID:28074573|PMID:28084675|PMID:28098151|PMID:28125078|PMID:28135719|PMID:28191889|PMID:28363362|PMID:28378436|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561|PMID:28681392|PMID:28748642|PMID:28911804|PMID:28921562|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29038591|PMID:29057136|PMID:29084544|PMID:29146883|PMID:29212898|PMID:29214238|PMID:29263817|PMID:29276006|PMID:29346770|PMID:29356064|PMID:29437595|PMID:29493581|PMID:29517769|PMID:29533785|PMID:29555671|PMID:29602897|PMID:29620724|PMID:29693080|PMID:29703613|PMID:29848529|PMID:29907801|PMID:29988639|PMID:30025578|PMID:30029678|PMID:30050098|PMID:30055033|PMID:30105547|PMID:30287924|PMID:30294303|PMID:30311386|PMID:30325180|PMID:30355600|PMID:30375388|PMID:30410095|PMID:30417923|PMID:30455982|PMID:30515541|PMID:30541462|PMID:30577886|PMID:30602027|PMID:30604644|PMID:30692697|PMID:30693642|PMID:30732632|PMID:30784236|PMID:30868567|PMID:30896080|PMID:30919686|PMID:31040167|PMID:31064749|PMID:31164752|PMID:31219622|PMID:31259454|PMID:31263281|PMID:31324109|PMID:31370276|PMID:31560489|PMID:31562133|PMID:31564432|PMID:31573083|PMID:31637070|PMID:31827275|PMID:31941532|PMID:32059087|PMID:32112654|PMID:32164556|PMID:32165824|PMID:32233106|PMID:32368696|PMID:32371413|PMID:32410215|PMID:32561839|PMID:32581362|PMID:32719394|PMID:32737134|PMID:3274644|PMID:32746448|PMID:32786180|PMID:32794475|PMID:32824488|PMID:32832832|PMID:32860008|PMID:32901917|PMID:32963807|PMID:33091040|PMID:33128510|PMID:33318624|PMID:33568805|PMID:33619735|PMID:33726816|PMID:33811550|PMID:34006472|PMID:34008892|PMID:34136434|PMID:34143244|PMID:34184824|PMID:34194850|PMID:34356170|PMID:34358384|PMID:34411415|PMID:34589056|PMID:34782754|PMID:34974531|PMID:35248088|PMID:35418823|PMID:35616356|PMID:35858754|PMID:35885957|PMID:35904599|PMID:35979676|PMID:36135330|PMID:36349709|PMID:36474027|PMID:36496429|PMID:36567979|PMID:36939041|PMID:37019085|PMID:37493574|PMID:37525886|PMID:37568403|PMID:37605180|PMID:37987971|PMID:39033378|PMID:4746100|PMID:9491886|PMID:9536098|PMID:9751050 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0080690 RASopathy ISO RGD:731746 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:10594032|PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12161596|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12739139|PMID:12826400|PMID:12900909|PMID:12960218|PMID:13908956|PMID:14634749|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14974085|PMID:14982869|PMID:14991917|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15211660|PMID:15240615|PMID:15248152|PMID:15273746|PMID:15384080|PMID:15385933|PMID:15389709|PMID:15470362|PMID:15520399|PMID:15539800|PMID:15604238|PMID:15644411|PMID:15689434|PMID:15690106|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15929108|PMID:15940693|PMID:15948193|PMID:15951301|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16053901|PMID:16078230|PMID:16115145|PMID:16124853|PMID:16166557|PMID:16172598|PMID:16199547|PMID:16263833|PMID:16338218|PMID:1635821|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16399795|PMID:16461457|PMID:16467864|PMID:16488201|PMID:16498234|PMID:16518851|PMID:16523510|PMID:16533526|PMID:16557282|PMID:16631468|PMID:16638574|PMID:16643459|PMID:16679933|PMID:1672296|PMID:16733669|PMID:16804314|PMID:16830086|PMID:16892325|PMID:16924159|PMID:16987887|PMID:16990350|PMID:17020470|PMID:17052965|PMID:17053061|PMID:17143285|PMID:17177198|PMID:17222357|PMID:17227708|PMID:17301821|PMID:17339163|PMID:17361219|PMID:17453145|PMID:17497712|PMID:17515436|PMID:17546245|PMID:17576681|PMID:17641779|PMID:17661820|PMID:17697839|PMID:17875892|PMID:17910045|PMID:17927788|PMID:17935252|PMID:17942397|PMID:17972951|PMID:18080325|PMID:18241070|PMID:18253957|PMID:18260110|PMID:18286234|PMID:18328949|PMID:18331608|PMID:18348260|PMID:18372317|PMID:18373317|PMID:18378677|PMID:18454468|PMID:18470943|PMID:18505544|PMID:18559669|PMID:18562489|PMID:18678287|PMID:18701506|PMID:18758896|PMID:18759865|PMID:18849586|PMID:18854871|PMID:19008228|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19061217|PMID:19063751|PMID:19077116|PMID:19120036|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19251646|PMID:19273734|PMID:19352411|PMID:19449407|PMID:19506109|PMID:19509418|PMID:19568997|PMID:19582499|PMID:19621452|PMID:19651601|PMID:19659470|PMID:19706403|PMID:19725129|PMID:19737548|PMID:19760651|PMID:19768645|PMID:19795160|PMID:19798502|PMID:19825837|PMID:19835954|PMID:19864201|PMID:19927903|PMID:20030748|PMID:20112233|PMID:20186801|PMID:20237506|PMID:20301303|PMID:20301557|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:20543023|PMID:20577567|PMID:2057894|PMID:20578946|PMID:20651068|PMID:20718194|PMID:20852937|PMID:20883402|PMID:20954246|PMID:20979190|PMID:21106241|PMID:21204800|PMID:21248739|PMID:21321969|PMID:21339643|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21396583|PMID:21407260|PMID:21526175|PMID:21533187|PMID:21548061|PMID:21567923|PMID:21590266|PMID:21677813|PMID:21680795|PMID:21747628|PMID:21784453|PMID:21803945|PMID:21901340|PMID:21910226|PMID:21910245|PMID:21930766|PMID:21934682|PMID:22058153|PMID:22097954|PMID:22190897|PMID:22253195|PMID:22315187|PMID:22371576|PMID:22411627|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22528600|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22822385|PMID:22847776|PMID:22848035|PMID:22923420|PMID:22959829|PMID:23297836|PMID:23312806|PMID:23317994|PMID:23321623|PMID:23334666|PMID:23334668|PMID:23446178|PMID:23457302|PMID:23513489|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23726368|PMID:23756559|PMID:23771920|PMID:23799168|PMID:23813970|PMID:23825065|PMID:23832011|PMID:23917401|PMID:23957426|PMID:23996481|PMID:24033266|PMID:24037001|PMID:24039098|PMID:24072241|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24225993|PMID:24401936|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24739123|PMID:24754368|PMID:24767283|PMID:24775816|PMID:24790373|PMID:24803665|PMID:24820750|PMID:24821303|PMID:24891296|PMID:24896146|PMID:24931631|PMID:24935154 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0080690 RASopathy ISO RGD:731746 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:24939587|PMID:25039348|PMID:25097206|PMID:25156961|PMID:25231023|PMID:25253770|PMID:25326635|PMID:25326637|PMID:25337068|PMID:25359717|PMID:25383899|PMID:25395418|PMID:25425531|PMID:25500235|PMID:25533962|PMID:25544017|PMID:25595571|PMID:25612910|PMID:2564168|PMID:25695693|PMID:25708222|PMID:25722345|PMID:25724491|PMID:2572450|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25742478|PMID:25802336|PMID:25804457|PMID:25862627|PMID:25884655|PMID:25912702|PMID:25914815|PMID:25917897|PMID:25937001|PMID:26084119|PMID:26206283|PMID:26223499|PMID:26242988|PMID:26286251|PMID:26337637|PMID:26372199|PMID:26377839|PMID:26456833|PMID:26457647|PMID:26467025|PMID:26495027|PMID:26556299|PMID:26607044|PMID:26619011|PMID:26633542|PMID:26645620|PMID:26673822|PMID:26742426|PMID:26783207|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26833328|PMID:26918529|PMID:27030275|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27117572|PMID:27149842|PMID:27153395|PMID:27168466|PMID:27193571|PMID:27238887|PMID:27259537|PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27626068|PMID:27659786|PMID:27683039|PMID:27763634|PMID:27783593|PMID:27876779|PMID:27959697|PMID:27993330|PMID:28051113|PMID:28074573|PMID:28084675|PMID:28098151|PMID:28125078|PMID:28135719|PMID:28191889|PMID:28363362|PMID:28378436|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561|PMID:28681392|PMID:28748642|PMID:28911804|PMID:28921562|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29038591|PMID:29057136|PMID:29084544|PMID:29146883|PMID:29212898|PMID:29214238|PMID:29263817|PMID:29276006|PMID:29346770|PMID:29356064|PMID:29437595|PMID:29493581|PMID:29517769|PMID:29533785|PMID:29555671|PMID:29602897|PMID:29620724|PMID:29625052|PMID:29693080|PMID:29703613|PMID:29848529|PMID:29907801|PMID:29988639|PMID:30025578|PMID:30029678|PMID:30050098|PMID:30055033|PMID:30105547|PMID:30287924|PMID:30294303|PMID:30311386|PMID:30325180|PMID:30355600|PMID:30375388|PMID:30410095|PMID:30417923|PMID:30455982|PMID:30515541|PMID:30541462|PMID:30577886|PMID:30602027|PMID:30604644|PMID:30692697|PMID:30693642|PMID:30732632|PMID:30784236|PMID:30868567|PMID:30896080|PMID:30919686|PMID:31040167|PMID:31057598|PMID:31064749|PMID:31164752|PMID:31219622|PMID:31259454|PMID:31263281|PMID:31292302|PMID:31324109|PMID:31370276|PMID:31446693|PMID:31560489|PMID:31562133|PMID:31564432|PMID:31573083|PMID:31637070|PMID:31722741|PMID:31827275|PMID:31941532|PMID:32059087|PMID:32112654|PMID:32164556|PMID:32233106|PMID:32368696|PMID:32371413|PMID:32410215|PMID:32561839|PMID:32581362|PMID:32719394|PMID:32737134|PMID:3274644|PMID:32746448|PMID:32786180|PMID:32794475|PMID:32824488|PMID:32832832|PMID:32860008|PMID:32901917|PMID:32963807|PMID:33042901|PMID:33057194|PMID:33091040|PMID:33128510|PMID:33167018|PMID:33258288|PMID:33300679|PMID:33318624|PMID:33568805|PMID:33619735|PMID:33726816|PMID:33811550|PMID:33850299|PMID:34006472|PMID:34008892|PMID:34136434|PMID:34143244|PMID:34184824|PMID:34194850|PMID:34308104|PMID:34356170|PMID:34358384|PMID:34411415|PMID:34589056|PMID:34782754|PMID:34918830|PMID:34974531|PMID:35248088|PMID:35418823|PMID:35574990|PMID:35616356|PMID:35769956|PMID:35858754|PMID:35885957|PMID:35904599|PMID:35979676|PMID:35982159|PMID:36135330|PMID:36304179|PMID:36349709|PMID:36474027|PMID:36496429|PMID:36567979|PMID:36939041|PMID:37019085|PMID:37216690|PMID:37493574|PMID:37525886|PMID:37568403|PMID:37605180|PMID:37923938|PMID:37987971|PMID:38318288|PMID:38413718|PMID:38540404|PMID:39033378|PMID:4746100|PMID:9491886|PMID:9536098|PMID:9751050 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0080798 myeloid leukemia associated with Down Syndrome ISO RGD:731746 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome PMID:15384080|PMID:16358218|PMID:16804314|PMID:17020470|PMID:24803665|PMID:25741868|PMID:27993330|PMID:28492532|PMID:32786180 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0110106 atrial heart septal defect 1 ISO RGD:731746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: ASD II PMID:11992261|PMID:12325025|PMID:12634870|PMID:12717436|PMID:12960218|PMID:15001945|PMID:15240615|PMID:15604238|PMID:15928039|PMID:15985475|PMID:16263833|PMID:16358218|PMID:17020470|PMID:19020799|PMID:19352411|PMID:21407260|PMID:21533187|PMID:22465605|PMID:22711529|PMID:24033266|PMID:24803665|PMID:24935154|PMID:25533962|PMID:25741868|PMID:26817465|PMID:28492532|PMID:29555671|PMID:29907801|PMID:31560489|PMID:32164556 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0110644 long QT syndrome 1 ISO RGD:731746 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:14644997|PMID:14961557|PMID:15121796|PMID:15723289|PMID:15928039|PMID:15987685|PMID:16358218|PMID:18470943|PMID:20301557|PMID:20954246|PMID:22528600|PMID:24033266|PMID:24628801|PMID:24935154|PMID:25741868|PMID:25937001|PMID:26742426|PMID:28492532|PMID:31219622|PMID:32164556 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0111512 metachondromatosis ISO RGD:731746 D RGD:7240710 20180130 OMIM 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0111512 metachondromatosis ISO RGD:731746 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Metachondromatosis PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12161596|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12739139|PMID:12826400|PMID:12900909|PMID:12960218|PMID:13908956|PMID:14634749|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14974085|PMID:14982869|PMID:14991917|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15240615|PMID:15248152|PMID:15273746|PMID:15385933|PMID:15389709|PMID:15520399|PMID:15539800|PMID:15604238|PMID:15689434|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15929108|PMID:15940693|PMID:15948193|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16053901|PMID:16078230|PMID:16115145|PMID:16124853|PMID:16166557|PMID:16172598|PMID:16263833|PMID:16338218|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16399795|PMID:16461457|PMID:16488201|PMID:16498234|PMID:16518851|PMID:16523510|PMID:16533526|PMID:16557282|PMID:16631468|PMID:16638574|PMID:16643459|PMID:16679933|PMID:16733669|PMID:16804314|PMID:16830086|PMID:16892325|PMID:16924159|PMID:16987887|PMID:16990350|PMID:17020470|PMID:17052965|PMID:17143285|PMID:17177198|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17361219|PMID:17497712|PMID:17515436|PMID:17546245|PMID:17576681|PMID:17641779|PMID:17661820|PMID:17875892|PMID:17910045|PMID:17935252|PMID:17972951|PMID:18080325|PMID:18241070|PMID:18253957|PMID:18260110|PMID:18331608|PMID:18372317|PMID:18373317|PMID:18378677|PMID:18454468|PMID:18470943|PMID:18562489|PMID:18678287|PMID:18701506|PMID:18758896|PMID:18759865|PMID:18849586|PMID:18854871|PMID:19008228|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19061217|PMID:19063751|PMID:19077116|PMID:19120036|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19251646|PMID:19352411|PMID:19449407|PMID:19509418|PMID:19568997|PMID:19621452|PMID:19651601|PMID:19706403|PMID:19725129|PMID:19737548|PMID:19768645|PMID:19795160|PMID:19825837|PMID:19835954|PMID:19864201|PMID:20030748|PMID:20186801|PMID:20237506|PMID:20301303|PMID:20301557|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:20543023|PMID:20577567|PMID:20578946|PMID:20651068|PMID:20718194|PMID:20883402|PMID:20954246|PMID:20979190|PMID:21106241|PMID:21204800|PMID:21321969|PMID:21339643|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21396583|PMID:21407260|PMID:21526175|PMID:21533187|PMID:21548061|PMID:21567923|PMID:21590266|PMID:21747628|PMID:21784453|PMID:21901340|PMID:21910226|PMID:21910245|PMID:21934682|PMID:22190897|PMID:22315187|PMID:22371576|PMID:22411627|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22822385|PMID:22847776|PMID:22848035|PMID:22923420|PMID:23297836|PMID:23317994|PMID:23321623|PMID:23334668|PMID:23446178|PMID:23457302|PMID:23513489|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23726368|PMID:23756559|PMID:23771920|PMID:23813970|PMID:23825065|PMID:23832011|PMID:23957426|PMID:23996481|PMID:24030381|PMID:24033266|PMID:24037001|PMID:24039098|PMID:24072241|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24401936|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24754368|PMID:24767283|PMID:24775816|PMID:24803665|PMID:24820750|PMID:24891296|PMID:24896146|PMID:24935154|PMID:25097206|PMID:25156961|PMID:25231023|PMID:25326637|PMID:25337068|PMID:25383899|PMID:25395418|PMID:25425531|PMID:25500235|PMID:25533962|PMID:25544017|PMID:25595571|PMID:25612910|PMID:25695693|PMID:25722345|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25742478|PMID:25862627|PMID:25884655|PMID:25912702|PMID:25914815|PMID:25917897|PMID:26084119|PMID:26206283|PMID:26242988|PMID:26286251|PMID:26337637|PMID:26372199|PMID:26377839|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26556299|PMID:26607044|PMID:26633542|PMID:26645620|PMID:26673822|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26918529|PMID:27030275|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27117572|PMID:27149842|PMID:27153395 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0111512 metachondromatosis ISO RGD:731746 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Metachondromatosis PMID:27168466|PMID:27193571|PMID:27238887|PMID:27276561|PMID:27353043|PMID:27460089|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27626068|PMID:27659786|PMID:27884971|PMID:28051113|PMID:28074573|PMID:28135719|PMID:28191889|PMID:28363362|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561|PMID:28681392|PMID:28748642|PMID:28911804|PMID:28921562|PMID:28957739|PMID:28991257|PMID:29038591|PMID:29057136|PMID:29146883|PMID:29212898|PMID:29214238|PMID:29263817|PMID:29276006|PMID:29346770|PMID:29356064|PMID:29493581|PMID:29517769|PMID:29555671|PMID:29620724|PMID:29625052|PMID:29693080|PMID:29703613|PMID:29848529|PMID:29907801|PMID:29988639|PMID:30025578|PMID:30029678|PMID:30050098|PMID:30055033|PMID:30287924|PMID:30294303|PMID:30311386|PMID:30325180|PMID:30355600|PMID:30410095|PMID:30417923|PMID:30455982|PMID:30515541|PMID:30541462|PMID:30544257|PMID:30602027|PMID:30604644|PMID:30692697|PMID:30693642|PMID:30732632|PMID:30784236|PMID:30896080|PMID:31040167|PMID:31064749|PMID:31164752|PMID:31219622|PMID:31292302|PMID:31324109|PMID:31370276|PMID:31446693|PMID:31560489|PMID:31564432|PMID:31573083|PMID:31637070|PMID:31722741|PMID:31827275|PMID:31941532|PMID:32059087|PMID:32164556|PMID:32233106|PMID:32368696|PMID:32371413|PMID:32410215|PMID:32581362|PMID:32719394|PMID:32737134|PMID:32746448|PMID:32824488|PMID:32860008|PMID:32901917|PMID:32963807|PMID:33091040|PMID:33258288|PMID:33300679|PMID:33318624|PMID:33568805|PMID:33726816|PMID:33811550|PMID:33850299|PMID:34006472|PMID:34008892|PMID:34143244|PMID:34194850|PMID:34356170|PMID:34411415|PMID:34782754|PMID:34974531|PMID:35418823|PMID:35858754|PMID:35885957|PMID:35904599|PMID:35979676|PMID:36135330|PMID:36304179|PMID:36474027|PMID:36567979|PMID:36939041|PMID:37019085|PMID:37493574|PMID:37525886|PMID:37568403|PMID:37605180|PMID:37923938|PMID:37987971|PMID:38318288|PMID:38413718|PMID:38540404|PMID:4746100|PMID:9491886|PMID:9536098|PMID:9751050 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0111683 neurofibromatosis-Noonan syndrome ISO RGD:731746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome PMID:22465605|PMID:28074573|PMID:28492532 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0112338 spermatogenic failure 57 ISO RGD:731746 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation PMID:11704759|PMID:11992261|PMID:12161469|PMID:12634870|PMID:12717436|PMID:12960218|PMID:13908956|PMID:14974085|PMID:15001945|PMID:15539800|PMID:15723289|PMID:15834506|PMID:15929108|PMID:15956085|PMID:15987685|PMID:16078230|PMID:16124853|PMID:16358218|PMID:16377799|PMID:16399795|PMID:16804314|PMID:16924159|PMID:16990350|PMID:17020470|PMID:17143285|PMID:17339163|PMID:17361219|PMID:17515436|PMID:17546245|PMID:17661820|PMID:18253957|PMID:18331608|PMID:18678287|PMID:19020799|PMID:19061217|PMID:19077116|PMID:19125092|PMID:19352411|PMID:19509418|PMID:20030748|PMID:20301303|PMID:20308328|PMID:20954246|PMID:20979190|PMID:21340158|PMID:21407260|PMID:21533187|PMID:21567923|PMID:21590266|PMID:22190897|PMID:22465605|PMID:23297836|PMID:23726368|PMID:24033266|PMID:24072241|PMID:24150203|PMID:24628801|PMID:24803665|PMID:24935154|PMID:25326637|PMID:25741868|PMID:25862627|PMID:25912702|PMID:26372199|PMID:26467025|PMID:26607044|PMID:26645620|PMID:26785492|PMID:26817465|PMID:26918529|PMID:27117572|PMID:27521173|PMID:28135719|PMID:28483241|PMID:28492532|PMID:28650561|PMID:28957739|PMID:28991257|PMID:29214238|PMID:29263817|PMID:29493581|PMID:29620724|PMID:29848529|PMID:29907801|PMID:30287924|PMID:30294303|PMID:30311386|PMID:30355600|PMID:30417923|PMID:30604644|PMID:30784236|PMID:31064749|PMID:31219622|PMID:31292302|PMID:31560489|PMID:31564432|PMID:31637070|PMID:32164556|PMID:32410215|PMID:32581362|PMID:32824488|PMID:32860008|PMID:33091040|PMID:33300679|PMID:34008892|PMID:34194850|PMID:34411415|PMID:34974531|PMID:35418823|PMID:35904599|PMID:36135330|PMID:36474027|PMID:36939041|PMID:37493574|PMID:37525886|PMID:37605180|PMID:37987971|PMID:4746100|PMID:9751050 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:10534 stomach cancer ISO RGD:731746 D RGD:9068941 20201001 RGD DNA:SNPs::rs12229892, rs2301756(human) PMID:27614952|REF_RGD_ID:39128246 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:1059 intellectual disability ISO RGD:731746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:15121796|PMID:17339163|PMID:17875892|PMID:18241070|PMID:24033266|PMID:24451042|PMID:24935154|PMID:25741868|PMID:28492532 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:1059 intellectual disability ISO RGD:731746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild PMID:11992261|PMID:15121796|PMID:17339163|PMID:17875892|PMID:18241070|PMID:20301303|PMID:20301557|PMID:21533187|PMID:24033266|PMID:24451042|PMID:24935154|PMID:25741868|PMID:26833328|PMID:28492532|PMID:34136434 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:10907 microcephaly ISO RGD:731746 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:11704759|PMID:11992261|PMID:12717436|PMID:14644997|PMID:15928039|PMID:15987685|PMID:16263833|PMID:16358218|PMID:16377799|PMID:17020470|PMID:17339163|PMID:17361219|PMID:18372317|PMID:18470943|PMID:18562489|PMID:19020799|PMID:19737548|PMID:19795160|PMID:20308328|PMID:21533187|PMID:22315187|PMID:23584145|PMID:24033266|PMID:24628801|PMID:24935154|PMID:25741868|PMID:26467025|PMID:26918529|PMID:28363362|PMID:28492532|PMID:29907801|PMID:30311386|PMID:30325180|PMID:30410095|PMID:30417923|PMID:31219622|PMID:31560489|PMID:32164556|PMID:32581362|PMID:33726816 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:11168 anogenital venereal wart ISO RGD:731746 D RGD:9068941 20201001 RGD protein:increased expression:foreskin PMID:18543080|REF_RGD_ID:39128248 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:731746 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:11992261|PMID:12058348|PMID:12960218|PMID:14644997|PMID:14961557|PMID:15001945|PMID:15121796|PMID:15385933|PMID:15520399|PMID:15710330|PMID:15712196|PMID:15987685|PMID:16338218|PMID:16358218|PMID:16377799|PMID:16638574|PMID:17020470|PMID:17339163|PMID:17361219|PMID:17935252|PMID:17972951|PMID:18372317|PMID:18373317|PMID:18759865|PMID:18849586|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19737548|PMID:19825837|PMID:19864201|PMID:20301303|PMID:20301557|PMID:20308328|PMID:20493809|PMID:20535210|PMID:20883402|PMID:21365175|PMID:21533187|PMID:21910245|PMID:22190897|PMID:22315187|PMID:22411627|PMID:22555271|PMID:22585553|PMID:22681964|PMID:23317994|PMID:23457302|PMID:23584145|PMID:23813970|PMID:24033266|PMID:24037001|PMID:24451042|PMID:24628801|PMID:24767283|PMID:24775816|PMID:24935154|PMID:25097206|PMID:25395418|PMID:25544017|PMID:25741868|PMID:25884655|PMID:25917897|PMID:26337637|PMID:26467025|PMID:26918529|PMID:27069254|PMID:27238887|PMID:27276561|PMID:27484170|PMID:27659786|PMID:28363362|PMID:28492532|PMID:28681392|PMID:29346770|PMID:29493581|PMID:29907801|PMID:30025578|PMID:30311386|PMID:30410095|PMID:30417923|PMID:31219622|PMID:31560489|PMID:32164556|PMID:32581362 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:1240 leukemia ISO RGD:731746 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15273746 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:12557 Duane retraction syndrome ISO RGD:731746 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Duane retraction syndrome PMID:25741868|PMID:28492532|PMID:39033378 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:12930 dilated cardiomyopathy ISO RGD:731746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:18759865|PMID:21934682|PMID:22923420|PMID:24033266|PMID:24803665|PMID:25500235|PMID:25612910|PMID:25741868|PMID:27153395|PMID:28051113|PMID:28492532 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:13620 patent foramen ovale ISO RGD:731746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Atrial septal defect, ostium secundum type PMID:11992261|PMID:12325025|PMID:12634870|PMID:12717436|PMID:12960218|PMID:15001945|PMID:15240615|PMID:15604238|PMID:15928039|PMID:15985475|PMID:16263833|PMID:16358218|PMID:17020470|PMID:19020799|PMID:19352411|PMID:21407260|PMID:21533187|PMID:22465605|PMID:22711529|PMID:24033266|PMID:24803665|PMID:24935154|PMID:25533962|PMID:25741868|PMID:26817465|PMID:28492532|PMID:29555671|PMID:29907801|PMID:31560489|PMID:32164556 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:13832 patent ductus arteriosus ISO RGD:731746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Patency of the ductus arteriosus PMID:11992261|PMID:12325025|PMID:12634870|PMID:12717436|PMID:12960218|PMID:15001945|PMID:15240615|PMID:15604238|PMID:15928039|PMID:15985475|PMID:16263833|PMID:16358218|PMID:17020470|PMID:19020799|PMID:19352411|PMID:21407260|PMID:21533187|PMID:22465605|PMID:22711529|PMID:24033266|PMID:24803665|PMID:24935154|PMID:25533962|PMID:25741868|PMID:26817465|PMID:28492532|PMID:29555671|PMID:29907801|PMID:31560489|PMID:32164556 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:14291 Noonan syndrome with multiple lentigines ISO RGD:731746 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Cardiomyopathic lentiginosis | ClinVar Annotator: match by term: LENTIGINOSIS, CARDIOMYOPATHIC | ClinVar Annotator: match by term: LEOPARD syndrome | ClinVar Annotator: match by term: MULTIPLE LENTIGINES SYNDROME | ClinVar Annotator: match by term: Multiple lentigines syndrome | ClinVar Annotator: match by term: Noonan syndrome with multiple lentigines PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12161596|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12739139|PMID:12826400|PMID:12900909|PMID:12960218|PMID:13908956|PMID:14634749|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14974085|PMID:14982869|PMID:14991917|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15240615|PMID:15248152|PMID:15273746|PMID:15385933|PMID:15389709|PMID:15470362|PMID:15520399|PMID:15539800|PMID:15604238|PMID:15689434|PMID:15690106|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15929108|PMID:15940693|PMID:15948193|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16053901|PMID:16078230|PMID:16115145|PMID:16124853|PMID:16166557|PMID:16172598|PMID:16263833|PMID:16338218|PMID:1635821|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16399795|PMID:16461457|PMID:16488201|PMID:16498234|PMID:16518851|PMID:16523510|PMID:16533526|PMID:16557282|PMID:16631468|PMID:16638574|PMID:16643459|PMID:16679933|PMID:1672296|PMID:16733669|PMID:16804314|PMID:16830086|PMID:16892325|PMID:16924159|PMID:16987887|PMID:16990350|PMID:17020470|PMID:17052965|PMID:17143285|PMID:17177198|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17361219|PMID:17453145|PMID:17497712|PMID:17515436|PMID:17546245|PMID:17576681|PMID:17641779|PMID:17661820|PMID:17697839|PMID:17875892|PMID:17910045|PMID:17927788|PMID:17935252|PMID:17972951|PMID:18080325|PMID:18241070|PMID:18253957|PMID:18260110|PMID:18331608|PMID:18372317|PMID:18373317|PMID:18378677|PMID:18454468|PMID:18470943|PMID:18505544|PMID:18562489|PMID:18678287|PMID:18701506|PMID:18758896|PMID:18759865|PMID:18849586|PMID:18854871|PMID:19008228|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19061217|PMID:19063751|PMID:19077116|PMID:19120036|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19251646|PMID:19273734|PMID:19352411|PMID:19509418|PMID:19568997|PMID:19582499|PMID:19621452|PMID:19651601|PMID:19659470|PMID:19706403|PMID:19725129|PMID:19737548|PMID:19768645|PMID:19795160|PMID:19825837|PMID:19835954|PMID:19864201|PMID:20030748|PMID:20186801|PMID:20237506|PMID:20301303|PMID:20301557|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:20543023|PMID:2057894|PMID:20578946|PMID:20651068|PMID:20718194|PMID:20883402|PMID:20954246|PMID:20979190|PMID:21106241|PMID:21204800|PMID:21321969|PMID:21339643|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21396583|PMID:21407260|PMID:21526175|PMID:21533187|PMID:21548061|PMID:21567923|PMID:21590266|PMID:21677813|PMID:21747628|PMID:21784453|PMID:21803945|PMID:21901340|PMID:21910226|PMID:21910245|PMID:21934682|PMID:22058153|PMID:22097954|PMID:22190897|PMID:22315187|PMID:22371576|PMID:22411627|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22528600|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22822385|PMID:22847776|PMID:22848035|PMID:22923420|PMID:23297836|PMID:23312806|PMID:23317994|PMID:23321623|PMID:23334668|PMID:23446178|PMID:23457302|PMID:23513489|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23726368|PMID:23756559|PMID:23771920|PMID:23799168|PMID:23813970|PMID:23825065|PMID:23832011|PMID:23957426|PMID:23996481|PMID:24033266|PMID:24037001|PMID:24039098|PMID:24072241|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24401936|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24754368|PMID:24767283|PMID:24775816|PMID:24790373|PMID:24803665|PMID:24820750|PMID:24891296|PMID:24896146|PMID:24935154|PMID:24939587|PMID:25097206|PMID:25156961|PMID:25231023|PMID:25263441|PMID:25326635|PMID:25326637|PMID:25337068|PMID:25359717|PMID:25381062|PMID:25383899|PMID:25395418|PMID:25425531|PMID:25500235|PMID:25533962|PMID:25544017|PMID:25595571|PMID:25612910|PMID:2564168|PMID:25695693|PMID:25708222|PMID:25722345|PMID:25724491|PMID:2572450|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25742478|PMID:25862627|PMID:25884655|PMID:25912702|PMID:25914815|PMID:25917897|PMID:25937001 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:14291 Noonan syndrome with multiple lentigines ISO RGD:731746 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Cardiomyopathic lentiginosis | ClinVar Annotator: match by term: LENTIGINOSIS, CARDIOMYOPATHIC | ClinVar Annotator: match by term: LEOPARD syndrome | ClinVar Annotator: match by term: MULTIPLE LENTIGINES SYNDROME | ClinVar Annotator: match by term: Multiple lentigines syndrome | ClinVar Annotator: match by term: Noonan syndrome with multiple lentigines PMID:26084119|PMID:26206283|PMID:26242988|PMID:26286251|PMID:26337637|PMID:26372199|PMID:26377839|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26556299|PMID:26607044|PMID:26633542|PMID:26645620|PMID:26673822|PMID:26742426|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26918529|PMID:27030275|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27117572|PMID:27149842|PMID:27153395|PMID:27168466|PMID:27193571|PMID:27238887|PMID:27259537|PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27626068|PMID:27659786|PMID:27959697|PMID:28051113|PMID:28074573|PMID:28125078|PMID:28135719|PMID:28191889|PMID:28363362|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561|PMID:28681392|PMID:28748642|PMID:28911804|PMID:28921562|PMID:28957739|PMID:28991257|PMID:29038591|PMID:29057136|PMID:29146883|PMID:29212898|PMID:29214238|PMID:29263817|PMID:29276006|PMID:29346770|PMID:29356064|PMID:29493581|PMID:29517769|PMID:29555671|PMID:29602897|PMID:29620724|PMID:29625052|PMID:29693080|PMID:29703613|PMID:29848529|PMID:29907801|PMID:29988639|PMID:30025578|PMID:30029678|PMID:30050098|PMID:30055033|PMID:30105547|PMID:30287924|PMID:30294303|PMID:30311386|PMID:30325180|PMID:30355600|PMID:30375388|PMID:30410095|PMID:30417923|PMID:30455982|PMID:30515541|PMID:30541462|PMID:30602027|PMID:30604644|PMID:30692697|PMID:30732632|PMID:30784236|PMID:30896080|PMID:30919686|PMID:31040167|PMID:31064749|PMID:31164752|PMID:31219622|PMID:31259454|PMID:31292302|PMID:31324109|PMID:31370276|PMID:31446693|PMID:31560489|PMID:31562133|PMID:31564432|PMID:31573083|PMID:31637070|PMID:31722741|PMID:31941532|PMID:32059087|PMID:32112654|PMID:32164556|PMID:32233106|PMID:32368696|PMID:32371413|PMID:32410215|PMID:32581362|PMID:32719394|PMID:32737134|PMID:3274644|PMID:32746448|PMID:32824488|PMID:32860008|PMID:32901917|PMID:33091040|PMID:33258288|PMID:33300679|PMID:33318624|PMID:33568805|PMID:33726816|PMID:33811550|PMID:33850299|PMID:34006472|PMID:34008892|PMID:34143244|PMID:34194850|PMID:34356170|PMID:34411415|PMID:34782754|PMID:34974531|PMID:35248088|PMID:35418823|PMID:35858754|PMID:35885957|PMID:35904599|PMID:35979676|PMID:36135330|PMID:36304179|PMID:36474027|PMID:36567979|PMID:36939041|PMID:37019085|PMID:37493574|PMID:37525886|PMID:37568403|PMID:37605180|PMID:37923938|PMID:37987971|PMID:38318288|PMID:38413718|PMID:38540404|PMID:4746100|PMID:9491886|PMID:9536098|PMID:9751050 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:1588 thrombocytopenia ISO RGD:731746 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:11704759|PMID:11992261|PMID:12161469|PMID:12634870|PMID:12717436|PMID:13908956|PMID:14974085|PMID:15001945|PMID:15539800|PMID:15723289|PMID:15834506|PMID:15929108|PMID:15987685|PMID:16078230|PMID:16124853|PMID:16358218|PMID:16399795|PMID:17515436|PMID:17661820|PMID:18253957|PMID:18331608|PMID:19061217|PMID:19352411|PMID:19509418|PMID:20301303|PMID:20308328|PMID:20979190|PMID:21340158|PMID:21407260|PMID:21533187|PMID:21567923|PMID:21590266|PMID:22190897|PMID:22465605|PMID:23297836|PMID:23726368|PMID:24072241|PMID:24628801|PMID:24803665|PMID:24935154|PMID:25326637|PMID:25741868|PMID:25912702|PMID:26372199|PMID:26467025|PMID:26645620|PMID:26785492|PMID:26918529|PMID:27117572|PMID:27521173|PMID:28135719|PMID:28483241|PMID:28492532|PMID:28650561|PMID:28957739|PMID:28991257|PMID:29214238|PMID:29263817|PMID:29493581|PMID:29848529|PMID:29907801|PMID:30287924|PMID:30294303|PMID:30355600|PMID:30417923|PMID:30604644|PMID:31219622|PMID:31292302|PMID:31560489|PMID:31637070|PMID:32164556|PMID:32581362|PMID:32860008|PMID:33091040|PMID:33300679|PMID:34008892|PMID:34194850|PMID:34411415|PMID:34974531|PMID:35418823|PMID:35904599|PMID:36135330|PMID:36474027|PMID:36939041|PMID:37493574|PMID:37525886|PMID:37605180|PMID:37987971|PMID:4746100 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:162 cancer ISO RGD:731746 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Cancer PMID:11704759|PMID:12634870|PMID:12717436|PMID:14644997|PMID:14974085|PMID:14982869|PMID:15385933|PMID:15842656|PMID:15928039|PMID:16830086|PMID:18470943|PMID:18678287|PMID:19047918|PMID:19509418|PMID:21930766|PMID:23825065|PMID:24033266|PMID:25741868|PMID:26619011|PMID:27783593|PMID:28492532 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:1686 glaucoma ISO RGD:3447 D RGD:9068941 20201001 RGD protein:increased expression,increased phosphorylation:retina PMID:30341011|REF_RGD_ID:39456090 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:1686 glaucoma ISO RGD:731746 D RGD:9068941 20201001 RGD protein:increased phosphorylation:retina PMID:30341011|REF_RGD_ID:39456090 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:1686 glaucoma treatment ISO RGD:3447 D RGD:9068941 20201001 RGD PMID:30341011|REF_RGD_ID:39456090 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:1712 aortic valve stenosis ISO RGD:731747 D RGD:9068941 20200609 RGD with Egfr mutation PMID:10700187|REF_RGD_ID:734918 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:1749 squamous cell carcinoma ISO RGD:731746 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26432044 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:206 hereditary multiple exostoses ISO RGD:731746 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21533187 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:2213 hemorrhagic disease ISO RGD:731746 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:11704759|PMID:11992261|PMID:12161469|PMID:12634870|PMID:12717436|PMID:13908956|PMID:14974085|PMID:15001945|PMID:15539800|PMID:15723289|PMID:15834506|PMID:15929108|PMID:15987685|PMID:16078230|PMID:16124853|PMID:16358218|PMID:16399795|PMID:17515436|PMID:17661820|PMID:18253957|PMID:18331608|PMID:19061217|PMID:19352411|PMID:19509418|PMID:20301303|PMID:20308328|PMID:20979190|PMID:21340158|PMID:21407260|PMID:21533187|PMID:21567923|PMID:21590266|PMID:22190897|PMID:22465605|PMID:23297836|PMID:23726368|PMID:24072241|PMID:24628801|PMID:24803665|PMID:24935154|PMID:25326637|PMID:25741868|PMID:25912702|PMID:26372199|PMID:26467025|PMID:26645620|PMID:26785492|PMID:26918529|PMID:27117572|PMID:27521173|PMID:28135719|PMID:28483241|PMID:28492532|PMID:28650561|PMID:28957739|PMID:28991257|PMID:29214238|PMID:29263817|PMID:29493581|PMID:29848529|PMID:29907801|PMID:30287924|PMID:30294303|PMID:30355600|PMID:30417923|PMID:30604644|PMID:31219622|PMID:31292302|PMID:31560489|PMID:31637070|PMID:32164556|PMID:32581362|PMID:32860008|PMID:33091040|PMID:33300679|PMID:34008892|PMID:34194850|PMID:34411415|PMID:34974531|PMID:35418823|PMID:35904599|PMID:36135330|PMID:36474027|PMID:36939041|PMID:37493574|PMID:37525886|PMID:37605180|PMID:37987971|PMID:4746100 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:2340 craniosynostosis ISO RGD:731746 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: FGFR2-related craniosynostosis PMID:11992261|PMID:14644997|PMID:15723289|PMID:15987685|PMID:16358218|PMID:17020470|PMID:17339163|PMID:17361219|PMID:18372317|PMID:19020799|PMID:19737548|PMID:20308328|PMID:22315187|PMID:22488759|PMID:23584145|PMID:24033266|PMID:24628801|PMID:25585602|PMID:25595571|PMID:25741868|PMID:26467025|PMID:26918529|PMID:28363362|PMID:28492532|PMID:29907801|PMID:30311386|PMID:30410095|PMID:30417923|PMID:31219622|PMID:31560489|PMID:32164556|PMID:32581362 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:2340 craniosynostosis ISO RGD:731746 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Brachycephaly PMID:11992261|PMID:14644997|PMID:15987685|PMID:16358218|PMID:17020470|PMID:17339163|PMID:17361219|PMID:18372317|PMID:19020799|PMID:19737548|PMID:20308328|PMID:21533187|PMID:22315187|PMID:23584145|PMID:24033266|PMID:24628801|PMID:24935154|PMID:25741868|PMID:26467025|PMID:26918529|PMID:28363362|PMID:28492532|PMID:29907801|PMID:30311386|PMID:30410095|PMID:30417923|PMID:31219622|PMID:31560489|PMID:32164556|PMID:32581362 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:2602 chondroma ISO RGD:731746 D RGD:9068941 20200609 RGD DNA:deletion, nonsense mutation:exon:c.514_524del11, p.R138X (human) PMID:20577567|REF_RGD_ID:11069623 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:2843 long QT syndrome ISO RGD:731746 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:14644997|PMID:14961557|PMID:15121796|PMID:15723289|PMID:15928039|PMID:15987685|PMID:16358218|PMID:18470943|PMID:20301557|PMID:20954246|PMID:22528600|PMID:24033266|PMID:24628801|PMID:24935154|PMID:25741868|PMID:25937001|PMID:26742426|PMID:28492532|PMID:31219622|PMID:32164556 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:299 adenocarcinoma ISO RGD:731746 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26432044 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:3069 malignant astrocytoma ISO RGD:731746 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Astrocytic tumor PMID:15985475|PMID:18470943|PMID:20186801|PMID:22781091|PMID:23624134|PMID:25741868|PMID:28492532|PMID:28650561|PMID:30311386|PMID:32737134 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:3070 high grade glioma ISO RGD:731746 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Astrocytoma PMID:11704759|PMID:12634870|PMID:12717436|PMID:14644997|PMID:14974085|PMID:14982869|PMID:15385933|PMID:15710330|PMID:15834506|PMID:15842656|PMID:15928039|PMID:16358218|PMID:16518851|PMID:16830086|PMID:17177198|PMID:17942397|PMID:17972951|PMID:18470943|PMID:18559669|PMID:18678287|PMID:19047918|PMID:19179468|PMID:19509418|PMID:19798502|PMID:21901340|PMID:21930766|PMID:22190897|PMID:23756559|PMID:23825065|PMID:23832011|PMID:24033266|PMID:25097206|PMID:25395418|PMID:26619011|PMID:26783207|PMID:27069254|PMID:27276561|PMID:27783593|PMID:28098151|PMID:28492532|PMID:32561839|PMID:36349709 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:3070 high grade glioma ISO RGD:731746 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Glioma susceptibility 9 PMID:11704759|PMID:12634870|PMID:12717436|PMID:14644997|PMID:14974085|PMID:14982869|PMID:15385933|PMID:15710330|PMID:15834506|PMID:15842656|PMID:15928039|PMID:16358218|PMID:16518851|PMID:16830086|PMID:17177198|PMID:17942397|PMID:17972951|PMID:18470943|PMID:18559669|PMID:18678287|PMID:19047918|PMID:19179468|PMID:19509418|PMID:19798502|PMID:21901340|PMID:21930766|PMID:22190897|PMID:23756559|PMID:23825065|PMID:23832011|PMID:24033266|PMID:25097206|PMID:25395418|PMID:25741868|PMID:26619011|PMID:26783207|PMID:27069254|PMID:27276561|PMID:27783593|PMID:28098151|PMID:28492532|PMID:32561839|PMID:36349709 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:3246 embryonal rhabdomyosarcoma ISO RGD:731746 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma PMID:26822237 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:3490 Noonan syndrome ISO RGD:731746 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome | ClinVar Annotator: match by term: Turner Syndrome, Male PMID:10594032|PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12161596|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12739139|PMID:12826400|PMID:12900909|PMID:12960218|PMID:13908956|PMID:14634749|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14974085|PMID:14982869|PMID:14991917|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15240615|PMID:15248152|PMID:15273746|PMID:15384080|PMID:15385933|PMID:15389709|PMID:15470362|PMID:15520399|PMID:15539800|PMID:15604238|PMID:15689434|PMID:15690106|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15929108|PMID:15940693|PMID:15948193|PMID:15951301|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16053901|PMID:16078230|PMID:16115145|PMID:16124853|PMID:16166557|PMID:16172598|PMID:16263833|PMID:16338218|PMID:1635821|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16399795|PMID:16461457|PMID:16467864|PMID:16488201|PMID:16498234|PMID:16518851|PMID:16523510|PMID:16533526|PMID:16557282|PMID:16631468|PMID:16638574|PMID:16643459|PMID:16679933|PMID:1672296|PMID:16733669|PMID:16804314|PMID:16830086|PMID:16892325|PMID:16924159|PMID:16987887|PMID:16990350|PMID:17020470|PMID:17052965|PMID:17053061|PMID:17143285|PMID:17177198|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17361219|PMID:17453145|PMID:17497712|PMID:17515436|PMID:17546245|PMID:17576681|PMID:17641779|PMID:17661820|PMID:17875892|PMID:17910045|PMID:17935252|PMID:17972951|PMID:18080325|PMID:18241070|PMID:18253957|PMID:18260110|PMID:18286234|PMID:18328949|PMID:18331608|PMID:18372317|PMID:18373317|PMID:18378677|PMID:18454468|PMID:18470943|PMID:18505544|PMID:18562489|PMID:18678287|PMID:18701506|PMID:18758896|PMID:18759865|PMID:18849586|PMID:18854871|PMID:19008228|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19061217|PMID:19063751|PMID:19077116|PMID:19120036|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19251646|PMID:19273734|PMID:19352411|PMID:19449407|PMID:19506109|PMID:19509418|PMID:19568997|PMID:19582499|PMID:19621452|PMID:19651601|PMID:19706403|PMID:19725129|PMID:19737548|PMID:19768645|PMID:19795160|PMID:19825837|PMID:19835954|PMID:19864201|PMID:19927903|PMID:20030748|PMID:20112233|PMID:20186801|PMID:20237506|PMID:20301303|PMID:20301557|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:20543023|PMID:2057894|PMID:20578946|PMID:20651068|PMID:20718194|PMID:20852937|PMID:20883402|PMID:20954246|PMID:20979190|PMID:21106241|PMID:21204800|PMID:21248739|PMID:21321969|PMID:21339643|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21396583|PMID:21407260|PMID:21526175|PMID:21533187|PMID:21548061|PMID:21567923|PMID:21590266|PMID:21677813|PMID:21680795|PMID:21747628|PMID:21784453|PMID:21803945|PMID:21901340|PMID:21910226|PMID:21910245|PMID:21930766|PMID:21934682|PMID:22058153|PMID:22097954|PMID:22190897|PMID:22253195|PMID:22315187|PMID:22371576|PMID:22411627|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22528600|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22822385|PMID:22847776|PMID:22848035|PMID:22923420|PMID:22959829|PMID:23297836|PMID:23312806|PMID:23317994|PMID:23321623|PMID:23334668|PMID:23446178|PMID:23457302|PMID:23513489|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23726368|PMID:23756559|PMID:23771920|PMID:23799168|PMID:23813970|PMID:23817572|PMID:23825065|PMID:23832011|PMID:23917401|PMID:23957426|PMID:23996481|PMID:24030381|PMID:24033266|PMID:24037001|PMID:24039098|PMID:24072241|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24225993|PMID:24401936|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24754368|PMID:24767283|PMID:24775816|PMID:24803665|PMID:24820750|PMID:24821303|PMID:24891296|PMID:24896146|PMID:24931631|PMID:24935154|PMID:24939587|PMID:25039348|PMID:25097206|PMID:25156961|PMID:25231023|PMID:25253770|PMID:25326635|PMID:25326637|PMID:25337068|PMID:25359717|PMID:25383899|PMID:25395418|PMID:25425531|PMID:25500235 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:3490 Noonan syndrome ISO RGD:731746 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome | ClinVar Annotator: match by term: Turner Syndrome, Male PMID:25533962|PMID:25544017|PMID:25595571|PMID:25612910|PMID:2564168|PMID:25695693|PMID:25708222|PMID:25722345|PMID:25724491|PMID:2572450|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25742478|PMID:25804457|PMID:25862627|PMID:25884655|PMID:25912702|PMID:25914815|PMID:25917897|PMID:25937001|PMID:26084119|PMID:26206283|PMID:26242988|PMID:26286251|PMID:26337637|PMID:26372199|PMID:26377839|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26556299|PMID:26607044|PMID:26619011|PMID:26633542|PMID:26645620|PMID:26673822|PMID:26742426|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26918529|PMID:27030275|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27117572|PMID:27149842|PMID:27153395|PMID:27168466|PMID:27193571|PMID:27238887|PMID:27259537|PMID:27276561|PMID:27353043|PMID:27460089|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27626068|PMID:27659786|PMID:27683039|PMID:27783593|PMID:27884971|PMID:27959697|PMID:27993330|PMID:28051113|PMID:28074573|PMID:28084675|PMID:28098151|PMID:28125078|PMID:28135719|PMID:28191889|PMID:28363362|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561|PMID:28681392|PMID:28748642|PMID:28911804|PMID:28921562|PMID:28957739|PMID:28991257|PMID:29038591|PMID:29057136|PMID:29084544|PMID:29146883|PMID:29212898|PMID:29214238|PMID:29263817|PMID:29276006|PMID:29346770|PMID:29356064|PMID:29493581|PMID:29517769|PMID:29555671|PMID:29602897|PMID:29620724|PMID:29625052|PMID:29693080|PMID:29703613|PMID:29848529|PMID:29907801|PMID:29988639|PMID:30025578|PMID:30029678|PMID:30050098|PMID:30055033|PMID:30105547|PMID:30287924|PMID:30294303|PMID:30311386|PMID:30325180|PMID:30355600|PMID:30375388|PMID:30410095|PMID:30417923|PMID:30455982|PMID:30515541|PMID:30541462|PMID:30602027|PMID:30604644|PMID:30692697|PMID:30693642|PMID:30732632|PMID:30784236|PMID:30868567|PMID:30896080|PMID:30919686|PMID:31040167|PMID:31057598|PMID:31064749|PMID:31164752|PMID:31219622|PMID:31259454|PMID:31292302|PMID:31324109|PMID:31370276|PMID:31446693|PMID:31560489|PMID:31562133|PMID:31564432|PMID:31573083|PMID:31637070|PMID:31722741|PMID:31941532|PMID:32059087|PMID:32112654|PMID:32164556|PMID:32233106|PMID:32368696|PMID:32371413|PMID:32410215|PMID:32561839|PMID:32581362|PMID:32719394|PMID:32737134|PMID:3274644|PMID:32746448|PMID:32786180|PMID:32794475|PMID:32824488|PMID:32832832|PMID:32860008|PMID:32901917|PMID:32963807|PMID:33042901|PMID:33057194|PMID:33091040|PMID:33128510|PMID:33258288|PMID:33300679|PMID:33318624|PMID:33568805|PMID:33619735|PMID:33726816|PMID:33811550|PMID:33850299|PMID:34006472|PMID:34008892|PMID:34136434|PMID:34143244|PMID:34194850|PMID:34356170|PMID:34411415|PMID:34589056|PMID:34782754|PMID:34974531|PMID:35248088|PMID:35418823|PMID:35574990|PMID:35616356|PMID:35769956|PMID:35858754|PMID:35885957|PMID:35904599|PMID:35979676|PMID:35982159|PMID:36135330|PMID:36304179|PMID:36474027|PMID:36567979|PMID:36939041|PMID:37019085|PMID:37493574|PMID:37525886|PMID:37568403|PMID:37605180|PMID:37923938|PMID:37987971|PMID:38318288|PMID:38413718|PMID:38540404|PMID:39033378|PMID:4746100|PMID:9491886|PMID:9536098|PMID:9751050 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:3907 lung squamous cell carcinoma ISO RGD:8599370 D RGD:9068941 20250116 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of lung PMID:11704759|PMID:12634870|PMID:12717436|PMID:14644997|PMID:14974085|PMID:14982869|PMID:15385933|PMID:15842656|PMID:15928039|PMID:16830086|PMID:18470943|PMID:18678287|PMID:19047918|PMID:19509418|PMID:21930766|PMID:23825065|PMID:24033266|PMID:25741868|PMID:26619011|PMID:27783593|PMID:28492532 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:4080 tricuspid valve insufficiency ISO RGD:731746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: tricuspid valve insufficiency PMID:11992261|PMID:12325025|PMID:12634870|PMID:12717436|PMID:12960218|PMID:15001945|PMID:15240615|PMID:15604238|PMID:15928039|PMID:15985475|PMID:16263833|PMID:16358218|PMID:17020470|PMID:19020799|PMID:19352411|PMID:21407260|PMID:21533187|PMID:22465605|PMID:22711529|PMID:24033266|PMID:24803665|PMID:24935154|PMID:25533962|PMID:25741868|PMID:26817465|PMID:28492532|PMID:29555671|PMID:29907801|PMID:31560489|PMID:32164556 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:4362 cervical cancer ISO RGD:731746 D RGD:9068941 20201001 RGD protein:increased expression:foreskin PMID:18543080|REF_RGD_ID:39128248 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:4624 Ollier disease ISO RGD:731746 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20577567|PMID:21533187 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:540 strabismus ISO RGD:731746 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Strabismus PMID:15985475|PMID:17020470|PMID:17546245|PMID:18470943|PMID:19077116|PMID:20186801|PMID:21590266|PMID:22465605|PMID:22781091|PMID:23624134|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29493581|PMID:31560489|PMID:37923938 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:731746 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Early T cell progenitor acute lymphoblastic leukemia PMID:11992261|PMID:12161469|PMID:15240615|PMID:16358218|PMID:17020470|PMID:17339163|PMID:18470943|PMID:18678287|PMID:19020799|PMID:21106241|PMID:21784453|PMID:21901340|PMID:22681964|PMID:23321623|PMID:24183200|PMID:25741868|PMID:27030275|PMID:28492532|PMID:30732632|PMID:30896080 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:5688 Werner syndrome ISO RGD:731746 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Werner syndrome PMID:25741868 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:630 genetic disease ISO RGD:731746 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11992261|PMID:12634870|PMID:14644997|PMID:15723289|PMID:16358218|PMID:17020470|PMID:17339163|PMID:17361219|PMID:18372317|PMID:19020799|PMID:20112233|PMID:20308328|PMID:20954246|PMID:21407260|PMID:22315187|PMID:23584145|PMID:23756559|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29696744 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:6419 tetralogy of Fallot susceptibility ISO RGD:731746 D RGD:9068941 20200609 RGD DNA:snp:intron:c.757-4333A>G (rs11066320) (human) PMID:22503907|REF_RGD_ID:12743641 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:769 neuroblastoma ISO RGD:731746 D RGD:9068941 20250109 CTD CTD Direct Evidence: marker/mechanism PMID:23334666 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:8469 influenza ISO RGD:731747 D RGD:9068941 20201001 RGD mRNA:increased expression:lung PMID:31782850|REF_RGD_ID:39131288 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:8927 learning disability ISO RGD:731746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Specific learning disability PMID:11992261|PMID:15121796|PMID:17339163|PMID:17875892|PMID:18241070|PMID:20301557|PMID:21533187|PMID:24033266|PMID:24935154|PMID:25741868|PMID:28492532 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:8929 atrophic gastritis severity ISO RGD:731746 D RGD:9068941 20201001 RGD associated with Helicobacter Infections;DNA:SNP:intron: rs2301756(human) PMID:19589142|REF_RGD_ID:39128247 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:8929 atrophic gastritis susceptibility ISO RGD:731746 D RGD:9068941 20200925 RGD associated with Helicobacter Infections; DNA:SNP:Cds: PMID:17211494|REF_RGD_ID:39128202 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:8929 atrophic gastritis susceptibility ISO RGD:731746 D RGD:9068941 20201001 RGD DNA:SNP:intron:rs2301756 (human) PMID:18712962|REF_RGD_ID:39131286 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:8929 atrophic gastritis susceptibility ISO RGD:731746 D RGD:9068941 20201001 RGD associated with Helicobacter Infections; DNA:SNP: :rs12423190 (human PMID:22788847|REF_RGD_ID:39131289 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9001049 Staphylococcal Pneumonia ISO RGD:731747 D RGD:9068941 20201001 RGD mRNA:increased expression:lung PMID:31782850|REF_RGD_ID:39131288 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9001049 Staphylococcal Pneumonia severity ISO RGD:731747 D RGD:9068941 20201001 RGD associated with influenza PMID:31782850|REF_RGD_ID:39131288 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9001276 Failure to Thrive ISO RGD:731746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:11992261|PMID:12325025|PMID:12634870|PMID:12717436|PMID:12960218|PMID:15001945|PMID:15240615|PMID:15604238|PMID:15928039|PMID:15985475|PMID:16263833|PMID:16358218|PMID:17020470|PMID:19020799|PMID:19352411|PMID:21407260|PMID:21533187|PMID:22465605|PMID:22711529|PMID:24033266|PMID:24803665|PMID:24935154|PMID:25533962|PMID:25741868|PMID:26817465|PMID:28492532|PMID:29555671|PMID:29907801|PMID:31560489|PMID:32164556 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9001510 Funnel Chest ISO RGD:731746 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Pectus excavatum PMID:11992261|PMID:14644997|PMID:15987685|PMID:16358218|PMID:17020470|PMID:17339163|PMID:17361219|PMID:18372317|PMID:19020799|PMID:19737548|PMID:20308328|PMID:21533187|PMID:22315187|PMID:23584145|PMID:24033266|PMID:24628801|PMID:24935154|PMID:25741868|PMID:26467025|PMID:26918529|PMID:28363362|PMID:28492532|PMID:29907801|PMID:30311386|PMID:30410095|PMID:30417923|PMID:31219622|PMID:31560489|PMID:32164556|PMID:32581362 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9002231 Fetal Growth Retardation treatment ISO RGD:3447 D RGD:9068941 20200609 RGD with postnatal growth restriction PMID:19491300|REF_RGD_ID:12743586 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9002453 Cafe-au-Lait Spots ISO RGD:731746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cafe-au-lait spot PMID:11992261|PMID:15121796|PMID:17339163|PMID:17875892|PMID:18241070|PMID:20301557|PMID:21533187|PMID:24033266|PMID:24935154|PMID:25741868|PMID:28492532 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:731746 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology PMID:11704759|PMID:11992261|PMID:12161469|PMID:12634870|PMID:12717436|PMID:14644997|PMID:14676626|PMID:15240615|PMID:15273746|PMID:15385933|PMID:15710330|PMID:15928039|PMID:15987685|PMID:16263833|PMID:16358218|PMID:16377799|PMID:16461457|PMID:16533526|PMID:16990350|PMID:17020470|PMID:17972951|PMID:18331608|PMID:18378677|PMID:18470943|PMID:18562489|PMID:19008228|PMID:19047918|PMID:19179468|PMID:19251646|PMID:19795160|PMID:19835954|PMID:20651068|PMID:21365683|PMID:22371576|PMID:22420426|PMID:23321623|PMID:24033266|PMID:24628801|PMID:24718990|PMID:25097206|PMID:25383899|PMID:25395418|PMID:25741868|PMID:26084119|PMID:26242988|PMID:26673822|PMID:27069254|PMID:27276561|PMID:28492532|PMID:30325180|PMID:33726816 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9002854 Noonan Syndrome-Like Disorder with or without Juvenile Myelomonocytic Leukemia ISO RGD:731746 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia PMID:11992261|PMID:12058348|PMID:12161596|PMID:14634749|PMID:14991917|PMID:15121796|PMID:15389709|PMID:15520399|PMID:16053901|PMID:16172598|PMID:16358218|PMID:16377799|PMID:16638574|PMID:16679933|PMID:17020470|PMID:18372317|PMID:18849586|PMID:19725129|PMID:19768645|PMID:20301557|PMID:20308328|PMID:21339643|PMID:21747628|PMID:22681964|PMID:22822385|PMID:23673659|PMID:24033266|PMID:24037001|PMID:24401936|PMID:24775816|PMID:24820750|PMID:24935154|PMID:25731833|PMID:25741868|PMID:25917897|PMID:26337637|PMID:26377839|PMID:26467025|PMID:26918529|PMID:28483241|PMID:28492532|PMID:29276006|PMID:29907801|PMID:30311386|PMID:30692697|PMID:30732632|PMID:31446693|PMID:31722741|PMID:32164556|PMID:33258288 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9003091 Noonan Like Syndrome ISO RGD:731746 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.D106A, p.F285L (human) PMID:15996221|REF_RGD_ID:11064737 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731746 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:11704759|PMID:11992261|PMID:12634870|PMID:12717436|PMID:12960218|PMID:14974085|PMID:14982869|PMID:15001945|PMID:15723289|PMID:15834506|PMID:15928039|PMID:15985475|PMID:16263833|PMID:16358218|PMID:16377799|PMID:18372317|PMID:18470943|PMID:18678287|PMID:18758896|PMID:19077116|PMID:19568997|PMID:19737548|PMID:21407260|PMID:21533187|PMID:21784453|PMID:22465605|PMID:22488759|PMID:22681964|PMID:23334668|PMID:24033266|PMID:24037001|PMID:24183200|PMID:24754368|PMID:24935154|PMID:25097206|PMID:25741868|PMID:25742478|PMID:26817465|PMID:26918529|PMID:28492532|PMID:28748642|PMID:29146883|PMID:29907801|PMID:30417923|PMID:31560489|PMID:31573083|PMID:32164556|PMID:34008892|PMID:35979676|PMID:36304179 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9004441 Experimental Leukemia ISO RGD:731746 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:32417439 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:731746 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:14644997|PMID:14961557|PMID:15121796|PMID:15723289|PMID:15928039|PMID:15987685|PMID:16358218|PMID:18470943|PMID:20301557|PMID:20954246|PMID:22528600|PMID:24033266|PMID:24628801|PMID:24935154|PMID:25741868|PMID:25937001|PMID:26742426|PMID:28492532|PMID:31219622|PMID:32164556 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9005141 Ventricular Tachycardia ISO RGD:731746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:25741868 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9005193 Osteochondroma ISO RGD:731746 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20577567 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:731746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Right ventricular hypertrophy PMID:11992261|PMID:12325025|PMID:12634870|PMID:12717436|PMID:12960218|PMID:15001945|PMID:15240615|PMID:15604238|PMID:15928039|PMID:15985475|PMID:16263833|PMID:16358218|PMID:17020470|PMID:19020799|PMID:19352411|PMID:21407260|PMID:21533187|PMID:22465605|PMID:22711529|PMID:24033266|PMID:24803665|PMID:24935154|PMID:25533962|PMID:25741868|PMID:26817465|PMID:28492532|PMID:29555671|PMID:29907801|PMID:31560489|PMID:32164556 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9006182 Carotid Artery Injuries ISO RGD:3447 D RGD:9068941 20201001 RGD protein:increased expression:aorta tunica intima, aorta tunica media PMID:12117720|REF_RGD_ID:39456082 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9007033 Ventricular Premature Complexes ISO RGD:731746 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Premature ventricular contraction PMID:23334666|PMID:25741868|PMID:26223499|PMID:28492532 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:11704759|PMID:11992261|PMID:12161469|PMID:12634870|PMID:12717436|PMID:12960218|PMID:13908956|PMID:14974085|PMID:15001945|PMID:15240615|PMID:15248152|PMID:15539800|PMID:15723289|PMID:15834506|PMID:15929108|PMID:15956085|PMID:15987685|PMID:16078230|PMID:16124853|PMID:16263833|PMID:16358218|PMID:16377799|PMID:16399795|PMID:16498234|PMID:17020470|PMID:17143285|PMID:17339163|PMID:17515436|PMID:17546245|PMID:17661820|PMID:18253957|PMID:18331608|PMID:19061217|PMID:19077116|PMID:19133693|PMID:19352411|PMID:19509418|PMID:20308328|PMID:20979190|PMID:21340158|PMID:21407260|PMID:21567923|PMID:21590266|PMID:22190897|PMID:22465605|PMID:23297836|PMID:23726368|PMID:24033266|PMID:24628801|PMID:24803665|PMID:25326637|PMID:25741868|PMID:25912702|PMID:26372199|PMID:26467025|PMID:26785492|PMID:26817465|PMID:27117572|PMID:27521173|PMID:28483241|PMID:28492532|PMID:28650561|PMID:28957739|PMID:29493581|PMID:30604644|PMID:32581362|PMID:32860008|PMID:33091040|PMID:34008892|PMID:4746100 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731746 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:11704759|PMID:11992261|PMID:12161469|PMID:12634870|PMID:12717436|PMID:12960218|PMID:13908956|PMID:14974085|PMID:15001945|PMID:15240615|PMID:15248152|PMID:15539800|PMID:15723289|PMID:15834506|PMID:15929108|PMID:15956085|PMID:15987685|PMID:16078230|PMID:16124853|PMID:16263833|PMID:16358218|PMID:16377799|PMID:16399795|PMID:16498234|PMID:17020470|PMID:17143285|PMID:17339163|PMID:17515436|PMID:17546245|PMID:17661820|PMID:18253957|PMID:18331608|PMID:19061217|PMID:19077116|PMID:19133693|PMID:19352411|PMID:19509418|PMID:20308328|PMID:20979190|PMID:21340158|PMID:21407260|PMID:21533187|PMID:21567923|PMID:21590266|PMID:22190897|PMID:22465605|PMID:23297836|PMID:23726368|PMID:24033266|PMID:24072241|PMID:24628801|PMID:24803665|PMID:24935154|PMID:25326637|PMID:25741868|PMID:25912702|PMID:26372199|PMID:26467025|PMID:26645620|PMID:26785492|PMID:26817465|PMID:26918529|PMID:27117572|PMID:27521173|PMID:28135719|PMID:28483241|PMID:28492532|PMID:28650561|PMID:28957739|PMID:28991257|PMID:29214238|PMID:29263817|PMID:29493581|PMID:29848529|PMID:29907801|PMID:30287924|PMID:30294303|PMID:30355600|PMID:30417923|PMID:30604644|PMID:31219622|PMID:31560489|PMID:31637070|PMID:32581362|PMID:32860008|PMID:33091040|PMID:34008892|PMID:4746100 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731746 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:11704759|PMID:11992261|PMID:12161469|PMID:12634870|PMID:12717436|PMID:12960218|PMID:13908956|PMID:14974085|PMID:15001945|PMID:15240615|PMID:15248152|PMID:15539800|PMID:15723289|PMID:15834506|PMID:15929108|PMID:15956085|PMID:15987685|PMID:16078230|PMID:16124853|PMID:16263833|PMID:16358218|PMID:16377799|PMID:16399795|PMID:16498234|PMID:17020470|PMID:17143285|PMID:17339163|PMID:17515436|PMID:17546245|PMID:17661820|PMID:18253957|PMID:18331608|PMID:19061217|PMID:19077116|PMID:19133693|PMID:19352411|PMID:19509418|PMID:20301303|PMID:20308328|PMID:20979190|PMID:21340158|PMID:21407260|PMID:21533187|PMID:21567923|PMID:21590266|PMID:22190897|PMID:22465605|PMID:23297836|PMID:23726368|PMID:24033266|PMID:24072241|PMID:24628801|PMID:24803665|PMID:24935154|PMID:25326637|PMID:25741868|PMID:25741909|PMID:25912702|PMID:26372199|PMID:26467025|PMID:26645620|PMID:26785492|PMID:26817465|PMID:26918529|PMID:27117572|PMID:27521173|PMID:28135719|PMID:28483241|PMID:28492532|PMID:28650561|PMID:28957739|PMID:28991257|PMID:29214238|PMID:29263817|PMID:29493581|PMID:29848529|PMID:29907801|PMID:30287924|PMID:30294303|PMID:30355600|PMID:30417923|PMID:30604644|PMID:31219622|PMID:31560489|PMID:31637070|PMID:32164556|PMID:32581362|PMID:32860008|PMID:33091040|PMID:34008892|PMID:4746100 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731746 D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:11704759|PMID:11992261|PMID:12161469|PMID:12634870|PMID:12717436|PMID:12960218|PMID:13908956|PMID:14974085|PMID:15001945|PMID:15240615|PMID:15248152|PMID:15539800|PMID:15723289|PMID:15834506|PMID:15929108|PMID:15956085|PMID:15987685|PMID:16263833|PMID:16358218|PMID:16377799|PMID:16399795|PMID:16498234|PMID:17020470|PMID:17143285|PMID:17339163|PMID:17515436|PMID:17546245|PMID:17661820|PMID:18253957|PMID:18331608|PMID:19061217|PMID:19077116|PMID:19133693|PMID:19352411|PMID:19509418|PMID:20301303|PMID:20308328|PMID:20979190|PMID:21340158|PMID:21407260|PMID:21533187|PMID:21567923|PMID:21590266|PMID:22190897|PMID:22465605|PMID:23297836|PMID:23726368|PMID:24072241|PMID:24628801|PMID:24803665|PMID:24935154|PMID:25326637|PMID:25741868|PMID:25912702|PMID:26372199|PMID:26467025|PMID:26645620|PMID:26785492|PMID:26817465|PMID:26918529|PMID:27117572|PMID:27521173|PMID:28135719|PMID:28483241|PMID:28492532|PMID:28650561|PMID:28957739|PMID:28991257|PMID:29214238|PMID:29263817|PMID:29493581|PMID:29848529|PMID:29907801|PMID:30287924|PMID:30294303|PMID:30355600|PMID:30417923|PMID:30604644|PMID:31219622|PMID:31560489|PMID:31637070|PMID:32164556|PMID:32581362|PMID:32860008|PMID:33091040|PMID:34008892|PMID:34194850|PMID:34411415|PMID:4746100 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731746 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:11704759|PMID:11992261|PMID:12161469|PMID:12634870|PMID:12717436|PMID:13908956|PMID:14974085|PMID:15001945|PMID:15539800|PMID:15723289|PMID:15834506|PMID:15929108|PMID:15987685|PMID:16078230|PMID:16124853|PMID:16358218|PMID:16399795|PMID:17515436|PMID:17661820|PMID:18253957|PMID:18331608|PMID:19061217|PMID:19352411|PMID:19509418|PMID:20301303|PMID:20308328|PMID:20979190|PMID:21340158|PMID:21407260|PMID:21533187|PMID:21567923|PMID:21590266|PMID:22190897|PMID:22465605|PMID:23297836|PMID:23726368|PMID:24072241|PMID:24628801|PMID:24803665|PMID:24935154|PMID:25326637|PMID:25741868|PMID:25912702|PMID:26372199|PMID:26467025|PMID:26645620|PMID:26785492|PMID:26918529|PMID:27117572|PMID:27521173|PMID:28135719|PMID:28483241|PMID:28492532|PMID:28650561|PMID:28957739|PMID:28991257|PMID:29214238|PMID:29263817|PMID:29493581|PMID:29848529|PMID:29907801|PMID:30287924|PMID:30294303|PMID:30355600|PMID:30417923|PMID:30604644|PMID:31219622|PMID:31292302|PMID:31560489|PMID:31637070|PMID:32164556|PMID:32581362|PMID:32860008|PMID:33091040|PMID:33300679|PMID:34008892|PMID:34194850|PMID:34411415|PMID:34974531|PMID:35418823|PMID:35904599|PMID:36135330|PMID:36474027|PMID:36939041|PMID:37493574|PMID:37525886|PMID:37605180|PMID:37987971|PMID:4746100 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9007661 Dwarfism ISO RGD:731746 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Short stature PMID:11704759|PMID:11992261|PMID:12161469|PMID:12634870|PMID:12717436|PMID:14644997|PMID:14676626|PMID:15240615|PMID:15273746|PMID:15385933|PMID:15710330|PMID:15928039|PMID:15985475|PMID:15987685|PMID:16263833|PMID:16358218|PMID:16377799|PMID:16461457|PMID:16533526|PMID:16990350|PMID:17020470|PMID:17546245|PMID:17972951|PMID:18331608|PMID:18378677|PMID:18470943|PMID:18562489|PMID:19008228|PMID:19047918|PMID:19077116|PMID:19179468|PMID:19251646|PMID:19795160|PMID:19835954|PMID:20186801|PMID:20651068|PMID:21365683|PMID:21590266|PMID:22371576|PMID:22420426|PMID:22465605|PMID:22781091|PMID:23321623|PMID:23624134|PMID:24033266|PMID:24628801|PMID:24718990|PMID:25097206|PMID:25383899|PMID:25395418|PMID:25741868|PMID:26084119|PMID:26242988|PMID:26673822|PMID:27069254|PMID:27276561|PMID:28492532|PMID:29493581|PMID:30325180|PMID:31560489|PMID:33726816|PMID:37923938 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9008086 Developmental Disabilities ISO RGD:731746 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:11992261|PMID:14644997|PMID:15987685|PMID:16358218|PMID:17020470|PMID:17339163|PMID:17361219|PMID:18372317|PMID:19020799|PMID:19737548|PMID:20308328|PMID:21533187|PMID:22315187|PMID:23584145|PMID:24033266|PMID:24628801|PMID:24935154|PMID:25741868|PMID:26467025|PMID:26918529|PMID:28363362|PMID:28492532|PMID:29907801|PMID:30311386|PMID:30410095|PMID:30417923|PMID:31219622|PMID:31560489|PMID:32164556|PMID:32581362 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9008114 Helicobacter Infections susceptibility ISO RGD:731746 D RGD:9068941 20201001 RGD DNA:SNP:intron: rs2301756(human) PMID:19589142|REF_RGD_ID:39128247 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9008386 Hydrops Fetalis ISO RGD:731746 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Fetal edema PMID:11704759|PMID:11992261|PMID:12161469|PMID:12634870|PMID:14644997|PMID:14676626|PMID:15240615|PMID:15273746|PMID:15385933|PMID:15710330|PMID:15928039|PMID:15987685|PMID:16358218|PMID:16377799|PMID:16461457|PMID:16533526|PMID:16990350|PMID:17020470|PMID:17339163|PMID:17972951|PMID:18331608|PMID:18378677|PMID:18470943|PMID:18562489|PMID:18678287|PMID:19008228|PMID:19020799|PMID:19047918|PMID:19179468|PMID:19251646|PMID:19835954|PMID:20651068|PMID:21106241|PMID:21365683|PMID:21784453|PMID:21901340|PMID:22371576|PMID:22420426|PMID:22681964|PMID:23321623|PMID:24033266|PMID:24183200|PMID:24628801|PMID:24718990|PMID:25097206|PMID:25383899|PMID:25395418|PMID:25741868|PMID:26084119|PMID:26242988|PMID:26673822|PMID:27030275|PMID:27069254|PMID:27276561|PMID:28492532|PMID:30732632|PMID:30896080 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9119 acute myeloid leukemia ISO RGD:731746 D RGD:9068941 20250116 CTD CTD Direct Evidence: marker/mechanism PMID:27992414 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:962 neurofibroma ISO RGD:731746 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Neurofibroma PMID:17052965|PMID:21548061|PMID:24033266|PMID:24451042|PMID:24803665|PMID:25741868|PMID:26556299|PMID:28492532|PMID:38318288 8703700 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:9000109 Haemophilus Infections ISO RGD:731747 D RGD:9068941 20201001 RGD mRNA, protein:increased expression:macrophage, lung: PMID:27330052|REF_RGD_ID:39131287 8703728 Rrbp1 ribosome binding protein 1 gene DOID:0070219 familial hyperinsulinemic hypoglycemia 1 ISO RGD:1315209 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 PMID:38605124 8703728 Rrbp1 ribosome binding protein 1 gene DOID:0111401 congenital dyserythropoietic anemia type II ISO RGD:1315209 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II PMID:19561605|PMID:25044164|PMID:28492532 8703756 Bche butyrylcholinesterase gene DOID:0050655 Bamforth-Lazarus syndrome ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16884476 8703756 Bche butyrylcholinesterase gene DOID:0050784 primary progressive multiple sclerosis ISO RGD:732174 D RGD:9068941 20200609 RGD PMID:20122907|REF_RGD_ID:5687690 8703756 Bche butyrylcholinesterase gene DOID:0050847 sleep apnea ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18555211 8703756 Bche butyrylcholinesterase gene DOID:0060041 autism spectrum disorder ISO RGD:732174 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8703756 Bche butyrylcholinesterase gene DOID:0110636 congenital merosin-deficient muscular dystrophy 1A ISO RGD:732175 D RGD:9068941 20200609 RGD PMID:12383920|REF_RGD_ID:5688132 8703756 Bche butyrylcholinesterase gene DOID:10113 trypanosomiasis ISO RGD:619996 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:20138875|REF_RGD_ID:5687328 8703756 Bche butyrylcholinesterase gene DOID:10652 Alzheimer's disease ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23022600 8703756 Bche butyrylcholinesterase gene DOID:10652 Alzheimer's disease ISO RGD:732174 D RGD:9068941 20200609 RGD PMID:22012848|REF_RGD_ID:5687327 8703756 Bche butyrylcholinesterase gene DOID:10652 Alzheimer's disease severity ISO RGD:732174 D RGD:9068941 20200609 RGD PMID:16973370|REF_RGD_ID:5688056 8703756 Bche butyrylcholinesterase gene DOID:10763 hypertension ISO RGD:732174 D RGD:9068941 20200609 RGD PMID:12387587|REF_RGD_ID:1601322 8703756 Bche butyrylcholinesterase gene DOID:10914 amnestic disorder ISO RGD:619996 D RGD:9068941 20200609 RGD PMID:21771623|REF_RGD_ID:5688134 8703756 Bche butyrylcholinesterase gene DOID:1168 familial hyperlipidemia ISO RGD:732174 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15219807|REF_RGD_ID:1601321 8703756 Bche butyrylcholinesterase gene DOID:12858 Huntington's disease ISO RGD:732174 D RGD:9068941 20200609 RGD protein:decreased expression:cerebrospinal fluid PMID:2953866|REF_RGD_ID:5688127 8703756 Bche butyrylcholinesterase gene DOID:1307 dementia ISO RGD:732174 D RGD:9068941 20200609 RGD associated with Parkinson Disease;protein:increased expression:cerebrospinal fluid PMID:2953866|REF_RGD_ID:5688127 8703756 Bche butyrylcholinesterase gene DOID:13548 secondary Parkinson disease ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30410011 8703756 Bche butyrylcholinesterase gene DOID:1561 cognitive disorder ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12003252|PMID:20513442 8703756 Bche butyrylcholinesterase gene DOID:1826 epilepsy ISO RGD:732174 D RGD:9068941 20200609 RGD PMID:7634486|REF_RGD_ID:5688133 8703756 Bche butyrylcholinesterase gene DOID:2297 leptospirosis ISO RGD:619996 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21921108|REF_RGD_ID:5688128 8703756 Bche butyrylcholinesterase gene DOID:2377 multiple sclerosis ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20122907 8703756 Bche butyrylcholinesterase gene DOID:3068 glioblastoma ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2317787 8703756 Bche butyrylcholinesterase gene DOID:3393 coronary artery disease susceptibility ISO RGD:732174 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.A539T (human) PMID:17852836|REF_RGD_ID:2306777 8703756 Bche butyrylcholinesterase gene DOID:3602 toxic encephalopathy ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21620937 8703756 Bche butyrylcholinesterase gene DOID:4247 coronary restenosis susceptibility ISO RGD:732174 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.A539T (human) PMID:17275003|REF_RGD_ID:2306778 8703756 Bche butyrylcholinesterase gene DOID:4450 renal cell carcinoma ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18482720 8703756 Bche butyrylcholinesterase gene DOID:5419 schizophrenia ISO RGD:732174 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:22123563|REF_RGD_ID:5687326 8703756 Bche butyrylcholinesterase gene DOID:543 dystonia ISO RGD:732174 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:2953866|REF_RGD_ID:5688127 8703756 Bche butyrylcholinesterase gene DOID:630 genetic disease ISO RGD:732174 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8703756 Bche butyrylcholinesterase gene DOID:655 inherited metabolic disorder susceptibility ISO RGD:732174 D RGD:9068941 20200609 RGD butyrylcholinesterase deficiency;DNA:missense mutation: :p.A199V PMID:9694584|REF_RGD_ID:1601328 8703756 Bche butyrylcholinesterase gene DOID:769 neuroblastoma ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2317787 8703756 Bche butyrylcholinesterase gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15121994 8703756 Bche butyrylcholinesterase gene DOID:809 cocaine abuse severity ISO RGD:732175 D RGD:9068941 20240201 RGD PMID:21540357|REF_RGD_ID:401960084 8703756 Bche butyrylcholinesterase gene DOID:9000046 Poisoning ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20176007|PMID:20513442|PMID:21620937|PMID:21683774|PMID:29183815 8703756 Bche butyrylcholinesterase gene DOID:9000441 Butyrylcholinesterase Deficiency ISO RGD:732174 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: BCHE, H variant | ClinVar Annotator: match by term: BCHE, J variant | ClinVar Annotator: match by term: Deficiency of butyrylcholine esterase | ClinVar Annotator: match by term: Postanesthetic apnea | ClinVar Annotator: match by term: Pseudocholinesterase E1 deficiency | ClinVar Annotator: match by term: Pseudocholinesterase deficiency PMID:10190327|PMID:10404729|PMID:10446378|PMID:10699053|PMID:11163024|PMID:11575530|PMID:11733654|PMID:12417112|PMID:1271425|PMID:12724618|PMID:12881446|PMID:1306123|PMID:13437188|PMID:13479831|PMID:1349196|PMID:13711731|PMID:1415224|PMID:14404182|PMID:15563885|PMID:15731589|PMID:15781196|PMID:1611188|PMID:16434405|PMID:1662391|PMID:16788378|PMID:17166756|PMID:17700357|PMID:18075469|PMID:18165570|PMID:18300943|PMID:18555211|PMID:2013061|PMID:20589221|PMID:20879632|PMID:21029050|PMID:21228368|PMID:21637541|PMID:22053728|PMID:22378569|PMID:2253336|PMID:22750491|PMID:23123771|PMID:24033266|PMID:25054547|PMID:25264279|PMID:25448037|PMID:25525159|PMID:25741868|PMID:27031121|PMID:27109752|PMID:27551784|PMID:28492532|PMID:2915989|PMID:3169798|PMID:31980526|PMID:33010031|PMID:33024248|PMID:3542989|PMID:416211|PMID:6716425|PMID:7618741|PMID:7634491|PMID:8314794|PMID:8554068|PMID:8601326|PMID:8680411|PMID:9047329|PMID:9058093|PMID:9110359|PMID:9187502|PMID:9191541|PMID:9302273|PMID:9388484|PMID:9543549 8703756 Bche butyrylcholinesterase gene DOID:9000441 Butyrylcholinesterase Deficiency susceptibility ISO RGD:732174 D RGD:7240710 20250312 OMIM 8703756 Bche butyrylcholinesterase gene DOID:9000459 Acholinesterasemia ISO RGD:732174 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Acholinesterasemia PMID:10190327|PMID:10404729|PMID:10446378|PMID:10699053|PMID:11163024|PMID:11575530|PMID:11733654|PMID:12417112|PMID:12724618|PMID:12881446|PMID:13437188|PMID:13479831|PMID:1349196|PMID:13711731|PMID:1415224|PMID:14404182|PMID:15563885|PMID:15731589|PMID:15781196|PMID:1611188|PMID:16434405|PMID:1662391|PMID:16788378|PMID:17166756|PMID:17700357|PMID:18075469|PMID:18165570|PMID:18300943|PMID:18555211|PMID:2013061|PMID:20589221|PMID:20879632|PMID:21029050|PMID:21228368|PMID:21637541|PMID:22053728|PMID:22378569|PMID:2253336|PMID:22750491|PMID:23123771|PMID:24033266|PMID:25054547|PMID:25264279|PMID:25448037|PMID:25525159|PMID:25741868|PMID:27031121|PMID:27109752|PMID:27551784|PMID:28492532|PMID:2915989|PMID:31980526|PMID:33010031|PMID:33024248|PMID:3542989|PMID:416211|PMID:6716425|PMID:7618741|PMID:7634491|PMID:8314794|PMID:8554068|PMID:8601326|PMID:8680411|PMID:9047329|PMID:9058093|PMID:9110359|PMID:9187502|PMID:9191541|PMID:9302273|PMID:9388484|PMID:9543549 8703756 Bche butyrylcholinesterase gene DOID:9000543 Death ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18597747 8703756 Bche butyrylcholinesterase gene DOID:9000790 Postoperative Complications ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6039104 8703756 Bche butyrylcholinesterase gene DOID:9001745 Fasciculation ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6465587 8703756 Bche butyrylcholinesterase gene DOID:9002079 Paresis ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2249680 8703756 Bche butyrylcholinesterase gene DOID:9002362 Hyperkinesis ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12019200 8703756 Bche butyrylcholinesterase gene DOID:9002371 Cardiotoxicity ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:26145887 8703756 Bche butyrylcholinesterase gene DOID:9002554 Tachycardia ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18597747 8703756 Bche butyrylcholinesterase gene DOID:9004802 Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type ISO RGD:732174 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Butyrylcholinesterase deficiency, fluoride-resistant, Japanese type PMID:10404729|PMID:12417112|PMID:25741868|PMID:8680411|PMID:9191541|PMID:9388484 8703756 Bche butyrylcholinesterase gene DOID:9004992 Apnea ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:1058931|PMID:12392308|PMID:12881446|PMID:15826794|PMID:1734774|PMID:21029050|PMID:25054547|PMID:38703|PMID:4319258|PMID:4347326|PMID:4698763|PMID:4728581|PMID:4746059|PMID:4850696|PMID:4959505|PMID:4998912|PMID:5365519|PMID:5412891|PMID:5488351|PMID:5667302|PMID:6039104|PMID:6465587|PMID:6859614|PMID:6928942|PMID:7069741|PMID:726855|PMID:7378868|PMID:7788839|PMID:7793179|PMID:900467|PMID:987736 8703756 Bche butyrylcholinesterase gene DOID:9005246 Paralysis ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1218179|PMID:122883|PMID:1734774|PMID:21228368|PMID:4319258|PMID:4347326|PMID:4362560|PMID:4728581|PMID:5021954|PMID:910611 8703756 Bche butyrylcholinesterase gene DOID:9005292 Organophosphate Poisoning ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:22981459|PMID:22982776|PMID:23044488|PMID:23123253|PMID:23178380|PMID:23220586|PMID:26239905|PMID:31201777 8703756 Bche butyrylcholinesterase gene DOID:9005632 Cocaine-Related Disorders ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18292872|PMID:18514640|PMID:20060817|PMID:20971807|PMID:22935511|PMID:22960160|PMID:23000451|PMID:25814464 8703756 Bche butyrylcholinesterase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:619996 D RGD:9068941 20200609 RGD PMID:12379509|PMID:16187484|REF_RGD_ID:1599458|REF_RGD_ID:2306781 8703756 Bche butyrylcholinesterase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:619996 D RGD:9068941 20200609 RGD protein:decreased expression:retina PMID:11478742|REF_RGD_ID:2306783 8703756 Bche butyrylcholinesterase gene DOID:9005832 Amyloid Plaques ISO RGD:732175 D RGD:9068941 20200609 RGD PMID:22157615|REF_RGD_ID:5687325 8703756 Bche butyrylcholinesterase gene DOID:9005930 Endotoxemia ISO RGD:732174 D RGD:9068941 20200609 RGD PMID:17657467|REF_RGD_ID:5688055 8703756 Bche butyrylcholinesterase gene DOID:9006588 Trismus ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7378868 8703756 Bche butyrylcholinesterase gene DOID:9006599 Hypertriglyceridemia ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23000450 8703756 Bche butyrylcholinesterase gene DOID:9006599 Hypertriglyceridemia ISO RGD:732174 D RGD:9068941 20200609 RGD associated with diabetes mellitus PMID:8149699|REF_RGD_ID:1601335 8703756 Bche butyrylcholinesterase gene DOID:9006646 Metabolic Syndrome ISO RGD:732174 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15907830|REF_RGD_ID:1601317 8703756 Bche butyrylcholinesterase gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3111302 8703756 Bche butyrylcholinesterase gene DOID:9007096 Stroke ISO RGD:732174 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20464061|REF_RGD_ID:5688131 8703756 Bche butyrylcholinesterase gene DOID:9007692 Insulin Resistance ISO RGD:732174 D RGD:9068941 20200609 RGD PMID:17917325|REF_RGD_ID:2306776 8703756 Bche butyrylcholinesterase gene DOID:9008939 Breast Neoplasms ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23063927 8703756 Bche butyrylcholinesterase gene DOID:9279 hyperhomocysteinemia ISO RGD:619996 D RGD:9068941 20200609 RGD Protein:increased expression:serum PMID:16442260|REF_RGD_ID:1599454 8703756 Bche butyrylcholinesterase gene DOID:9352 type 2 diabetes mellitus ISO RGD:732174 D RGD:9068941 20200609 RGD PMID:16442234|REF_RGD_ID:2306780 8703756 Bche butyrylcholinesterase gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:732174 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.A539T (human) PMID:11793025|REF_RGD_ID:2306782 8703756 Bche butyrylcholinesterase gene DOID:9470 bacterial meningitis ISO RGD:732174 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:21303225|REF_RGD_ID:5688130 8703756 Bche butyrylcholinesterase gene DOID:9505 cannabis abuse ISO RGD:732174 D RGD:9068941 20240201 RGD protein:increased activity:blood plasma (human) PMID:30707402|REF_RGD_ID:401960085 8703756 Bche butyrylcholinesterase gene DOID:9744 type 1 diabetes mellitus onset ISO RGD:732174 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.A539T (human) PMID:17026497|REF_RGD_ID:2306779 8703756 Bche butyrylcholinesterase gene DOID:9884 muscular dystrophy ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22906800 8703756 Bche butyrylcholinesterase gene DOID:9970 obesity ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:18452903|PMID:23000450|PMID:23073171|PMID:27163854 8703756 Bche butyrylcholinesterase gene DOID:9976 heroin dependence ISO RGD:732174 D RGD:9068941 20240201 RGD protein:increased activity:blood plasma (human) PMID:30707402|REF_RGD_ID:401960085 8703794 Shisa8 shisa family member 8 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1345156 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8703794 Shisa8 shisa family member 8 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1345156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 8703803 Arl3 ARF like GTPase 3 gene DOID:0110415 retinitis pigmentosa 2 ISO RGD:737247 D RGD:9068941 20240425 MouseDO OMIM:312600 8703803 Arl3 ARF like GTPase 3 gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:737247 D RGD:9068941 20220825 MouseDO OMIM:263200 8703803 Arl3 ARF like GTPase 3 gene DOID:0112140 retinitis pigmentosa 83 ISO RGD:734227 D RGD:7240710 20190315 OMIM 8703803 Arl3 ARF like GTPase 3 gene DOID:0112140 retinitis pigmentosa 83 ISO RGD:734227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 83 PMID:25741868|PMID:26964041|PMID:28492532|PMID:30932721 8703803 Arl3 ARF like GTPase 3 gene DOID:10584 retinitis pigmentosa ISO RGD:734227 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532|PMID:33748123 8703803 Arl3 ARF like GTPase 3 gene DOID:2512 nevoid basal cell carcinoma syndrome ISO RGD:734227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gorlin syndrome PMID:12068298|PMID:22508808|PMID:25403219|PMID:28492532|PMID:31639285 8703803 Arl3 ARF like GTPase 3 gene DOID:3873 desmoplastic/nodular medulloblastoma ISO RGD:734227 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma PMID:12068298 8703803 Arl3 ARF like GTPase 3 gene DOID:630 genetic disease ISO RGD:734227 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8703803 Arl3 ARF like GTPase 3 gene DOID:8501 fundus dystrophy ISO RGD:734227 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532|PMID:33748123 8703803 Arl3 ARF like GTPase 3 gene DOID:9001060 JOUBERT SYNDROME 35 ISO RGD:734227 D RGD:7240710 20190315 OMIM 8703803 Arl3 ARF like GTPase 3 gene DOID:9001060 JOUBERT SYNDROME 35 ISO RGD:734227 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: ARL3-related condition | ClinVar Annotator: match by term: Joubert syndrome 35 PMID:16199547|PMID:25741868|PMID:28492532|PMID:30269812 8703813 Bmpr1b bone morphogenetic protein receptor type 1B gene DOID:0050581 brachydactyly ISO RGD:1354405 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Brachydactyly PMID:22374147|PMID:25741868|PMID:25758993|PMID:28492532 8703813 Bmpr1b bone morphogenetic protein receptor type 1B gene DOID:0080006 bone development disease ISO RGD:1354405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15805157 8703813 Bmpr1b bone morphogenetic protein receptor type 1B gene DOID:0080051 acromesomelic dysplasia, Hunter-Thompson type ISO RGD:1354405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 2C, Hunter-Thompson type PMID:29322508 8703813 Bmpr1b bone morphogenetic protein receptor type 1B gene DOID:0081237 acromesomelic dysplasia 3 ISO RGD:1354405 D RGD:7240710 20180130 OMIM 8703813 Bmpr1b bone morphogenetic protein receptor type 1B gene DOID:0081237 acromesomelic dysplasia 3 ISO RGD:1354405 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: ACROMESOMELIC DYSPLASIA 3 | ClinVar Annotator: match by term: Acromesomelic dysplasia 3 | ClinVar Annotator: match by term: Acromesomelic dysplasia, Demirhan type | ClinVar Annotator: match by term: CHONDRODYSPLASIA, ACROMESOMELIC, WITH OR WITHOUT GENITAL ANOMALIES PMID:15805157|PMID:22374147|PMID:24129431|PMID:25741868|PMID:25758993|PMID:26105076|PMID:28492532|PMID:35034853 8703813 Bmpr1b bone morphogenetic protein receptor type 1B gene DOID:0110965 brachydactyly type A2 ISO RGD:1354405 D RGD:7240710 20180130 OMIM 8703813 Bmpr1b bone morphogenetic protein receptor type 1B gene DOID:0110965 brachydactyly type A2 ISO RGD:1354405 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Type A2 brachydactyly PMID:14523231|PMID:15805157|PMID:16199547|PMID:16957682|PMID:17576681|PMID:22374147|PMID:24129431|PMID:25741868|PMID:25758993|PMID:28418932|PMID:28492532|PMID:31769494|PMID:33486847|PMID:35034853|PMID:9536098 8703813 Bmpr1b bone morphogenetic protein receptor type 1B gene DOID:0110978 brachydactyly type A1D ISO RGD:1354405 D RGD:7240710 20190315 OMIM 8703813 Bmpr1b bone morphogenetic protein receptor type 1B gene DOID:0110978 brachydactyly type A1D ISO RGD:1354405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brachydactyly type A1D PMID:25758993 8703813 Bmpr1b bone morphogenetic protein receptor type 1B gene DOID:14557 primary pulmonary hypertension ISO RGD:1354405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic pulmonary arterial hypertension PMID:22374147|PMID:25741868|PMID:25758993|PMID:28492532 8703813 Bmpr1b bone morphogenetic protein receptor type 1B gene DOID:2256 osteochondrodysplasia ISO RGD:1354405 D RGD:9068941 20200609 RGD acromesomelic chondrodysplasia and genital anomalies, OMIM:609441, DNA:deletion:exon PMID:15805157|REF_RGD_ID:1600593 8703813 Bmpr1b bone morphogenetic protein receptor type 1B gene DOID:2841 asthma ISO RGD:1354405 D RGD:9068941 20200609 RGD protein:decreased expression:bronchus PMID:18292470|REF_RGD_ID:5129470 8703813 Bmpr1b bone morphogenetic protein receptor type 1B gene DOID:5426 primary ovarian insufficiency ISO RGD:1354405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 8703813 Bmpr1b bone morphogenetic protein receptor type 1B gene DOID:630 genetic disease ISO RGD:1354405 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8703813 Bmpr1b bone morphogenetic protein receptor type 1B gene DOID:6432 pulmonary hypertension ISO RGD:1354405 D RGD:9068941 20200609 RGD PMID:19324947|REF_RGD_ID:5129472 8703813 Bmpr1b bone morphogenetic protein receptor type 1B gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1354405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease PMID:25741868|PMID:30029678 8703813 Bmpr1b bone morphogenetic protein receptor type 1B gene DOID:9002304 Prostatic Neoplasms ISO RGD:1354405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8703813 Bmpr1b bone morphogenetic protein receptor type 1B gene DOID:9006294 Congenital Limb Deformities ISO RGD:1354405 D RGD:9068941 20200609 RGD type A2 brachydactyly, OMIM:112600; type C brachydactyly, OMIM:113100, with symphalangism, DNA:point mutations:exon:R486W; R486Q PMID:14523231|REF_RGD_ID:1334470 8703813 Bmpr1b bone morphogenetic protein receptor type 1B gene DOID:9007888 primary pulmonary hypertension 3 ISO RGD:1354405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary hypertension, primary, 3 PMID:25741868|PMID:28492532 8703813 Bmpr1b bone morphogenetic protein receptor type 1B gene DOID:9008296 Eye Abnormalities ISO RGD:1354405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15804571 8703813 Bmpr1b bone morphogenetic protein receptor type 1B gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1354405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15804571 8703873 Dlc1 DLC1 Rho GTPase activating protein gene DOID:0080074 neural tube defect ISO RGD:68616 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neural tube defect PMID:25741868 8703873 Dlc1 DLC1 Rho GTPase activating protein gene DOID:13938 amenorrhea ISO RGD:68616 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8703873 Dlc1 DLC1 Rho GTPase activating protein gene DOID:14566 disease of cellular proliferation ISO RGD:68616 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21455586 8703873 Dlc1 DLC1 Rho GTPase activating protein gene DOID:1520 colon carcinoma ISO RGD:68616 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:10649492 8703873 Dlc1 DLC1 Rho GTPase activating protein gene DOID:9000217 Stomach Neoplasms ISO RGD:68616 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:26401016 8703873 Dlc1 DLC1 Rho GTPase activating protein gene DOID:9002762 Ovarian Neoplasms ISO RGD:68616 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15674352 8703873 Dlc1 DLC1 Rho GTPase activating protein gene DOID:9008443 Colorectal Neoplasms ISO RGD:68616 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism 8703873 Dlc1 DLC1 Rho GTPase activating protein gene DOID:9256 colorectal cancer ISO RGD:68616 D RGD:7240710 20200226 OMIM 8703873 Dlc1 DLC1 Rho GTPase activating protein gene DOID:9256 colorectal cancer ISO RGD:68616 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: DLC1-related condition PMID:25741868|PMID:28492532 8703873 Dlc1 DLC1 Rho GTPase activating protein gene DOID:9256 colorectal cancer ISO RGD:68616 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: DLC1-related condition PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 8703873 Dlc1 DLC1 Rho GTPase activating protein gene DOID:9256 colorectal cancer ISO RGD:68616 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: DLC1-related condition | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:17576681|PMID:24587289|PMID:25741868|PMID:28106320|PMID:28492532|PMID:9536098 8703913 Col20a1 collagen type XX alpha 1 chain gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1602872 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 8703913 Col20a1 collagen type XX alpha 1 chain gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1602872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 8703913 Col20a1 collagen type XX alpha 1 chain gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1602872 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 8703913 Col20a1 collagen type XX alpha 1 chain gene DOID:0081108 keratosis palmoplantaris striata 1 ISO RGD:1602872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Palmoplantar keratoderma i, striate, focal, or diffuse PMID:29934816 8703913 Col20a1 collagen type XX alpha 1 chain gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1602872 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 8703913 Col20a1 collagen type XX alpha 1 chain gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1602872 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 8703913 Col20a1 collagen type XX alpha 1 chain gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1602872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 8703970 Sdf2l1 stromal cell derived factor 2 like 1 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1320780 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:21681106|PMID:25741868|PMID:31690835|PMID:38177409 8703970 Sdf2l1 stromal cell derived factor 2 like 1 gene DOID:11198 DiGeorge syndrome ISO RGD:1320780 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 8703970 Sdf2l1 stromal cell derived factor 2 like 1 gene DOID:8778 Crohn's disease ISO RGD:1320780 D RGD:9068941 20221103 CTD CTD Direct Evidence: marker/mechanism PMID:36038634 8703970 Sdf2l1 stromal cell derived factor 2 like 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1320780 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8703970 Sdf2l1 stromal cell derived factor 2 like 1 gene DOID:9003281 Spontaneous Abortions ISO RGD:1320780 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 8703970 Sdf2l1 stromal cell derived factor 2 like 1 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:1585844 D RGD:9068941 20200609 RGD DNA:deletion:exons, introns:g.3_910del (rat) PMID:27463508|REF_RGD_ID:11528530 8703978 Znf658 zinc finger protein 658 gene DOID:37 skin disease ISO RGD:1345425 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28720099 8703988 Rangap1 Ran GTPase activating protein 1 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1321254 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27150054 8703988 Rangap1 Ran GTPase activating protein 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1321254 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8703988 Rangap1 Ran GTPase activating protein 1 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1321254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 8703988 Rangap1 Ran GTPase activating protein 1 gene DOID:0111117 nephronophthisis-like nephropathy 1 ISO RGD:1321254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1 PMID:28492532 8703988 Rangap1 Ran GTPase activating protein 1 gene DOID:11446 sciatic neuropathy ISO RGD:1310380 D RGD:9068941 20200609 RGD protein:increased expression:sciatic nerve, axon, cytoplasm (rat) PMID:18667152|REF_RGD_ID:9835000 8703988 Rangap1 Ran GTPase activating protein 1 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1321254 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 PMID:28492532 8703988 Rangap1 Ran GTPase activating protein 1 gene DOID:9006182 Carotid Artery Injuries ISO RGD:1310380 D RGD:9068941 20200609 RGD protein:increased expression:carotid artery, intima (rat) PMID:24988324|REF_RGD_ID:9835414 8704012 Celf3 CUGBP Elav-like family member 3 gene DOID:0111940 immunodeficiency 42 ISO RGD:1319873 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8704012 Celf3 CUGBP Elav-like family member 3 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1319873 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8704012 Celf3 CUGBP Elav-like family member 3 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1319873 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8704012 Celf3 CUGBP Elav-like family member 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1319873 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8704012 Celf3 CUGBP Elav-like family member 3 gene DOID:440 neuromuscular disease ISO RGD:1319873 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Neuromuscular disease PMID:25741868 8704012 Celf3 CUGBP Elav-like family member 3 gene DOID:5812 MHC class II deficiency ISO RGD:1319873 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8704012 Celf3 CUGBP Elav-like family member 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319873 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8704051 Nnat neuronatin gene DOID:2234 focal epilepsy ISO RGD:730841 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8704051 Nnat neuronatin gene DOID:3908 lung non-small cell carcinoma ISO RGD:730841 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17043644 8704051 Nnat neuronatin gene DOID:5212 congenital disorder of glycosylation ISO RGD:730841 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:28492532 8704051 Nnat neuronatin gene DOID:769 neuroblastoma ISO RGD:730841 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17762496 8704051 Nnat neuronatin gene DOID:9007867 Aicardi-Goutieres Syndrome 5 ISO RGD:730841 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 PMID:28492532 8704063 Maged1 MAGE family member D1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:736331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8704063 Maged1 MAGE family member D1 gene DOID:0112126 Stocco Dos Santos type X-linked intellectual disability ISO RGD:736331 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type PMID:25670966 8704063 Maged1 MAGE family member D1 gene DOID:12849 autistic disorder ISO RGD:736331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8704094 Dnajc19 DnaJ heat shock protein family (Hsp40) member C19 gene DOID:0060336 3-methylglutaconic aciduria ISO RGD:1603908 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria PMID:25741868 8704094 Dnajc19 DnaJ heat shock protein family (Hsp40) member C19 gene DOID:0110000 3-methylglutaconic aciduria type 5 ISO RGD:1603908 D RGD:7240710 20180130 OMIM 8704094 Dnajc19 DnaJ heat shock protein family (Hsp40) member C19 gene DOID:0110000 3-methylglutaconic aciduria type 5 ISO RGD:1603908 D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 | ClinVar Annotator: match by term: DNAJC19-related condition PMID:16055927|PMID:16199547|PMID:17576681|PMID:22797137|PMID:22981120|PMID:25741868|PMID:27426421|PMID:27928778|PMID:28296734|PMID:28492532|PMID:28771251|PMID:29625556|PMID:34008892|PMID:9536098 8704094 Dnajc19 DnaJ heat shock protein family (Hsp40) member C19 gene DOID:0110004 3-methylglutaconic aciduria type 3 ISO RGD:1603908 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 3 PMID:16055927|PMID:27928778|PMID:28492532 8704094 Dnajc19 DnaJ heat shock protein family (Hsp40) member C19 gene DOID:0111546 Currarino syndrome ISO RGD:1603908 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 8704094 Dnajc19 DnaJ heat shock protein family (Hsp40) member C19 gene DOID:0111801 syndromic microphthalmia 3 ISO RGD:1603908 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome PMID:16543359|PMID:17522144|PMID:19921648|PMID:22382802|PMID:23701296|PMID:24804704|PMID:28492532 8704094 Dnajc19 DnaJ heat shock protein family (Hsp40) member C19 gene DOID:630 genetic disease ISO RGD:1603908 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8704109 Gorasp2 golgi reassembly stacking protein 2 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:736034 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 8704144 Nkapd1 NKAP domain containing 1 gene DOID:0070614 chromosome 11 partial duplication syndrome ISO RGD:1605379 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8704144 Nkapd1 NKAP domain containing 1 gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:1605379 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carney-Stratakis syndrome PMID:15531530|PMID:19351833|PMID:19454582|PMID:19802898|PMID:22241717|PMID:28492532 8704144 Nkapd1 NKAP domain containing 1 gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:1605379 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 8704144 Nkapd1 NKAP domain containing 1 gene DOID:0110450 dilated cardiomyopathy 1II ISO RGD:1605379 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1II PMID:28492532 8704144 Nkapd1 NKAP domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1605379 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8704144 Nkapd1 NKAP domain containing 1 gene DOID:12704 ataxia telangiectasia ISO RGD:1605379 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 8704144 Nkapd1 NKAP domain containing 1 gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:1605379 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 8704161 Mamdc4 MAM domain containing 4 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1604980 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 8704161 Mamdc4 MAM domain containing 4 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1604980 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 8704161 Mamdc4 MAM domain containing 4 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1604980 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 8704161 Mamdc4 MAM domain containing 4 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1604980 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8704161 Mamdc4 MAM domain containing 4 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1604980 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 8704161 Mamdc4 MAM domain containing 4 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1604980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 8704161 Mamdc4 MAM domain containing 4 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1604980 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 8704161 Mamdc4 MAM domain containing 4 gene DOID:0081097 Rafiq syndrome ISO RGD:1604980 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 8704161 Mamdc4 MAM domain containing 4 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1604980 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8704161 Mamdc4 MAM domain containing 4 gene DOID:3652 Leigh disease ISO RGD:1604980 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 8704161 Mamdc4 MAM domain containing 4 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1604980 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8704192 Ca12 carbonic anhydrase 12 gene DOID:0050861 colorectal adenocarcinoma severity ISO RGD:1315327 D RGD:9068941 20220916 RGD PMID:10666387|REF_RGD_ID:155226866 8704192 Ca12 carbonic anhydrase 12 gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:1315327 D RGD:9068941 20220916 RGD PMID:22172588|REF_RGD_ID:153352330 8704192 Ca12 carbonic anhydrase 12 gene DOID:0080199 colorectal carcinoma disease_progression ISO RGD:1315327 D RGD:9068941 20220916 RGD PMID:27688658|REF_RGD_ID:155226860 8704192 Ca12 carbonic anhydrase 12 gene DOID:0110935 nemaline myopathy 6 ISO RGD:1315327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 8704192 Ca12 carbonic anhydrase 12 gene DOID:0111371 isolated hyperchlorhidrosis ISO RGD:1315327 D RGD:7240710 20180130 OMIM 8704192 Ca12 carbonic anhydrase 12 gene DOID:0111371 isolated hyperchlorhidrosis ISO RGD:1315327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CA12-related condition | ClinVar Annotator: match by term: Isolated hyperchlorhidrosis PMID:21035102|PMID:21184099|PMID:25741868|PMID:26911677|PMID:28492532 8704192 Ca12 carbonic anhydrase 12 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1315327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 8704192 Ca12 carbonic anhydrase 12 gene DOID:1324 lung cancer ISO RGD:1315327 D RGD:9068941 20220916 RGD protein:increased expression:serum; PMID:22439015|REF_RGD_ID:155226862 8704192 Ca12 carbonic anhydrase 12 gene DOID:234 colon adenocarcinoma disease_progression ISO RGD:1315327 D RGD:9068941 20220915 RGD PMID:35847888|REF_RGD_ID:153352327 8704192 Ca12 carbonic anhydrase 12 gene DOID:2717 Bloom syndrome ISO RGD:1315327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8704192 Ca12 carbonic anhydrase 12 gene DOID:3748 esophagus squamous cell carcinoma severity ISO RGD:1315327 D RGD:9068941 20220916 RGD PMID:26316888|REF_RGD_ID:155226859 8704192 Ca12 carbonic anhydrase 12 gene DOID:3883 Lynch syndrome ISO RGD:1315327 D RGD:9068941 20220916 RGD protein:decreased expression:colorectum PMID:17855694|REF_RGD_ID:155226867 8704192 Ca12 carbonic anhydrase 12 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1315034 D RGD:9068941 20220916 RGD PMID:23910904|REF_RGD_ID:155226863 8704192 Ca12 carbonic anhydrase 12 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1315327 D RGD:9068941 20220916 RGD PMID:20521252|REF_RGD_ID:155226864 8704192 Ca12 carbonic anhydrase 12 gene DOID:5015 fibrolamellar carcinoma ISO RGD:1315327 D RGD:9068941 20220915 RGD mRNA:increased expression:liver PMID:28304380|REF_RGD_ID:153352326 8704192 Ca12 carbonic anhydrase 12 gene DOID:684 hepatocellular carcinoma ISO RGD:1315327 D RGD:9068941 20220916 RGD mRNA:altered expression:liver PMID:29900055|REF_RGD_ID:155226869 8704192 Ca12 carbonic anhydrase 12 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:1315328 D RGD:9068941 20220915 RGD PMID:35362480|REF_RGD_ID:153352325 8704192 Ca12 carbonic anhydrase 12 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1315327 D RGD:9068941 20220915 RGD PMID:31934040|PMID:35362480|REF_RGD_ID:153352325|REF_RGD_ID:153352328 8704192 Ca12 carbonic anhydrase 12 gene DOID:9005172 Lung Neoplasms ISO RGD:1315327 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 8704192 Ca12 carbonic anhydrase 12 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1315327 D RGD:9068941 20220915 RGD protein:decreased expression:colorectal mucosa PMID:15849821|REF_RGD_ID:153352324 8704192 Ca12 carbonic anhydrase 12 gene DOID:9009121 lung metastasis ameliorates ISO RGD:1315327 D RGD:9068941 20220916 RGD associated with breast cancer; PMID:29786141|REF_RGD_ID:155226861 8704192 Ca12 carbonic anhydrase 12 gene DOID:9256 colorectal cancer ISO RGD:1315327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8704220 Rpl21 ribosomal protein L21 gene DOID:0110709 hypotrichosis 12 ISO RGD:68568 D RGD:7240710 20180130 OMIM 8704220 Rpl21 ribosomal protein L21 gene DOID:0110709 hypotrichosis 12 ISO RGD:68568 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Hypotrichosis 12 PMID:19751230|PMID:21412954 8704220 Rpl21 ribosomal protein L21 gene DOID:4535 hypotrichosis ISO RGD:68568 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8704237 Gprin3 GPRIN family member 3 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1604710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 8704246 Siglec5 sialic acid binding Ig like lectin 5 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1313458 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8704248 Ssbp2 single stranded DNA binding protein 2 gene DOID:10283 prostate cancer ISO RGD:1344325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8704248 Ssbp2 single stranded DNA binding protein 2 gene DOID:3312 bipolar disorder ISO RGD:1344325 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 8704248 Ssbp2 single stranded DNA binding protein 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1344325 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18559593 8704248 Ssbp2 single stranded DNA binding protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8704269 Rnase13 ribonuclease A family member 13 (inactive) gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1344390 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 8704269 Rnase13 ribonuclease A family member 13 (inactive) gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1344390 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8704283 Clk2 CDC like kinase 2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1343354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 8704283 Clk2 CDC like kinase 2 gene DOID:0111940 immunodeficiency 42 ISO RGD:1343354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8704283 Clk2 CDC like kinase 2 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1343354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8704283 Clk2 CDC like kinase 2 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1343354 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8704283 Clk2 CDC like kinase 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1343354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8704283 Clk2 CDC like kinase 2 gene DOID:5812 MHC class II deficiency ISO RGD:1343354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8704283 Clk2 CDC like kinase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1343354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8704307 Ptpn6 protein tyrosine phosphatase non-receptor type 6 gene DOID:0060041 autism spectrum disorder ISO RGD:734188 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8704307 Ptpn6 protein tyrosine phosphatase non-receptor type 6 gene DOID:0060496 respiratory allergy ISO RGD:734188 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18441283 8704307 Ptpn6 protein tyrosine phosphatase non-receptor type 6 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:734188 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 8704307 Ptpn6 protein tyrosine phosphatase non-receptor type 6 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:734188 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:18712838|PMID:21031596|PMID:24399846|PMID:28492532|PMID:30626896 8704307 Ptpn6 protein tyrosine phosphatase non-receptor type 6 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:734188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 8704307 Ptpn6 protein tyrosine phosphatase non-receptor type 6 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:734188 D RGD:8554872 20240716 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:18712838|PMID:21031596|PMID:24399846|PMID:28492532|PMID:30626896 8704307 Ptpn6 protein tyrosine phosphatase non-receptor type 6 gene DOID:0111621 Temtamy syndrome ISO RGD:734188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 8704307 Ptpn6 protein tyrosine phosphatase non-receptor type 6 gene DOID:11168 anogenital venereal wart ISO RGD:734188 D RGD:9068941 20201001 RGD protein:increased expression:foreskin PMID:18543080|REF_RGD_ID:39128248 8704307 Ptpn6 protein tyrosine phosphatase non-receptor type 6 gene DOID:182 calcinosis ISO RGD:734188 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 8704307 Ptpn6 protein tyrosine phosphatase non-receptor type 6 gene DOID:4079 heart valve disease ISO RGD:734188 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 8704307 Ptpn6 protein tyrosine phosphatase non-receptor type 6 gene DOID:4362 cervical cancer ISO RGD:734188 D RGD:9068941 20201001 RGD protein:increased expression:foreskin PMID:18543080|REF_RGD_ID:39128248 8704307 Ptpn6 protein tyrosine phosphatase non-receptor type 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 8704307 Ptpn6 protein tyrosine phosphatase non-receptor type 6 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:734188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8704375 Ccar2 cell cycle and apoptosis regulator 2 gene DOID:9002498 Wallerian Degeneration ISO RGD:1605357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24252177 8704375 Ccar2 cell cycle and apoptosis regulator 2 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1605357 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 8704406 Hoxb9 homeobox B9 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1314613 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 PMID:38922859 8704406 Hoxb9 homeobox B9 gene DOID:9000647 Acute Erythroleukemia ISO RGD:1314613 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30926971 8704406 Hoxb9 homeobox B9 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1314613 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27182052 8704406 Hoxb9 homeobox B9 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1314613 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27182052 8704406 Hoxb9 homeobox B9 gene DOID:9004268 Uterine Neoplasms ISO RGD:1314613 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27182052 8704406 Hoxb9 homeobox B9 gene DOID:9008939 Breast Neoplasms ISO RGD:1314613 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27182052 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:0060058 lymphoma ISO RGD:1322684 D RGD:9068941 20220812 RGD DNA:missense mutation:CDS p.D140E (rs7479004) (human) PMID:25407497|REF_RGD_ID:153323305 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:0060480 left ventricular noncompaction ISO RGD:1322685 D RGD:9068941 20230817 MouseDO OMIM:604169 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1322684 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:0070529 Sifrim-Hitz-Weiss syndrome ISO RGD:1322684 D RGD:7240710 20190315 OMIM 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:0070529 Sifrim-Hitz-Weiss syndrome ISO RGD:1322684 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: CHD4-related disorder | ClinVar Annotator: match by term: Sifrim-Hitz-Weiss syndrome PMID:17576681|PMID:21743468|PMID:22575888|PMID:25741868|PMID:27479907|PMID:27616479|PMID:28492532|PMID:31388190|PMID:31474762|PMID:32543371|PMID:32881470|PMID:9536098 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1322684 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:0111621 Temtamy syndrome ISO RGD:1322684 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:1059 intellectual disability ISO RGD:1322684 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:12849 autistic disorder ISO RGD:1322684 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30559488 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:1324 lung cancer ISO RGD:1322684 D RGD:9068941 20220812 RGD DNA:missense mutation:CDS p.D140E (rs7479004) (human) PMID:25407497|REF_RGD_ID:153323305 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:1324 lung cancer ameliorates ISO RGD:1322684 D RGD:9068941 20220812 RGD mRNA:increased expression:lung (human) PMID:30031117|REF_RGD_ID:153323309 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:1612 breast cancer ISO RGD:1322684 D RGD:9068941 20220811 RGD mRNA:increased expression:breast (human) PMID:28486105|REF_RGD_ID:153323299 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:1993 rectum cancer ISO RGD:1322684 D RGD:9068941 20220812 RGD DNA:missense mutation:CDS p.D140E (rs7479004) (human) PMID:25407497|REF_RGD_ID:153323305 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:1996 rectum adenocarcinoma ISO RGD:1322684 D RGD:9068941 20220811 RGD mRNA:increased expression:rectum (human) PMID:28486105|REF_RGD_ID:153323299 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:234 colon adenocarcinoma ameliorates ISO RGD:1322684 D RGD:9068941 20220811 RGD human cells in a mouse model PMID:28486105|REF_RGD_ID:153323299 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:2526 prostate adenocarcinoma ISO RGD:1322684 D RGD:9068941 20220811 RGD mRNA:decreased expression:prostate gland (human) PMID:28486105|REF_RGD_ID:153323299 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:2876 laryngeal squamous cell carcinoma exacerbates ISO RGD:1322684 D RGD:9068941 20220812 RGD mRNA:increased expression:larynx (human) PMID:33315534|REF_RGD_ID:153323310 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1322684 D RGD:9068941 20220811 RGD mRNA:increased expression:lung (human) PMID:28486105|REF_RGD_ID:153323299 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:3910 lung adenocarcinoma ISO RGD:1322684 D RGD:9068941 20220811 RGD mRNA:increased expression:lung (human) PMID:28486105|REF_RGD_ID:153323299 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:3910 lung adenocarcinoma ameliorates ISO RGD:1322684 D RGD:9068941 20220812 RGD human cells in a mouse model PMID:32228507|REF_RGD_ID:153323307 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:3910 lung adenocarcinoma susceptibility ISO RGD:1322684 D RGD:9068941 20220812 RGD DNA:missense mutation:CDS:p.D140E (rs7479004) (human) PMID:29667179|REF_RGD_ID:151660359 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1322684 D RGD:9068941 20220811 RGD mRNA:decreased expression:kidney (human) PMID:28486105|REF_RGD_ID:153323299 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:5419 schizophrenia ISO RGD:1322684 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21743468 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1322684 D RGD:9068941 20220811 RGD mRNA:increased expression:head or neck skin (human) PMID:28486105|REF_RGD_ID:153323299 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:630 genetic disease ISO RGD:1322684 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:20693977|PMID:22302795|PMID:24348274|PMID:25741868|PMID:25849321|PMID:26116663|PMID:27418512|PMID:27479907|PMID:27616479|PMID:28135719|PMID:28492532|PMID:31388190|PMID:32543371|PMID:9536098 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1322684 D RGD:9068941 20220811 RGD mRNA:increased expression:liver (human) PMID:28486105|REF_RGD_ID:153323299 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1322684 D RGD:9068941 20220812 RGD mRNA:increased expression:liver (human) PMID:32070428|REF_RGD_ID:153323308 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1322684 D RGD:9068941 20220812 RGD protein:increased expression:liver (human) PMID:26095183|REF_RGD_ID:11571740 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:9000217 Stomach Neoplasms ISO RGD:1322684 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35362730 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:1322684 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35362730 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322684 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:9005172 Lung Neoplasms ISO RGD:1322684 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30008631 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:9006618 Liver Metastasis ameliorates ISO RGD:1322684 D RGD:9068941 20220811 RGD associated with human colon adenocarcinoma cells in a mouse model PMID:28486105|REF_RGD_ID:153323299 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:9006728 Triple Negative Breast Neoplasms exacerbates ISO RGD:1322684 D RGD:9068941 20220812 RGD protein:increased expression:breast (human) PMID:29305962|REF_RGD_ID:153323306 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1322684 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23104009 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1322684 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:9008086 Developmental Disabilities ISO RGD:1322684 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:9009121 lung metastasis ameliorates ISO RGD:1322684 D RGD:9068941 20220811 RGD associated with human colon adenocarcinoma cells in a mouse model PMID:28486105|REF_RGD_ID:153323299 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:9256 colorectal cancer ISO RGD:1322684 D RGD:9068941 20220812 RGD PMID:28486105|REF_RGD_ID:153323299 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:9256 colorectal cancer exacerbates ISO RGD:1322684 D RGD:9068941 20220812 RGD mRNA:increased expression:lymph node (human) PMID:29467924|REF_RGD_ID:153323304 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:936 brain disease ISO RGD:1322684 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Neonatal encephalopathy PMID:25741868 8704464 Son SON DNA and RNA binding protein gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1319118 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 8704464 Son SON DNA and RNA binding protein gene DOID:0060898 Parkinson's disease 20 ISO RGD:1319118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 8704464 Son SON DNA and RNA binding protein gene DOID:0060953 ZTTK syndrome ISO RGD:1319118 D RGD:7240710 20190315 OMIM 8704464 Son SON DNA and RNA binding protein gene DOID:0060953 ZTTK syndrome ISO RGD:1319118 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: SON-related condition | ClinVar Annotator: match by term: ZTTK syndrome PMID:17576681|PMID:25590979|PMID:25741868|PMID:25741875|PMID:27256762|PMID:27545676|PMID:27545680|PMID:28135719|PMID:28492532|PMID:32368696|PMID:34521999|PMID:9536098 8704464 Son SON DNA and RNA binding protein gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1319118 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 8704464 Son SON DNA and RNA binding protein gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1319118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 8704464 Son SON DNA and RNA binding protein gene DOID:0110770 hereditary spastic paraplegia 17 ISO RGD:1319118 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 17 PMID:25590979|PMID:25741868|PMID:25741875|PMID:27256762|PMID:27545676|PMID:27545680|PMID:28492532|PMID:34521999 8704464 Son SON DNA and RNA binding protein gene DOID:0111995 immunodeficiency 28 ISO RGD:1319118 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Immunodeficiency 28 PMID:17237124|PMID:23512985|PMID:28492532 8704464 Son SON DNA and RNA binding protein gene DOID:0112359 congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay ISO RGD:1319118 D RGD:9068941 20221110 RGD DNA:missense mutations:exon 3:multiple (human) PMID:31005274|REF_RGD_ID:155641262 8704464 Son SON DNA and RNA binding protein gene DOID:1059 intellectual disability ISO RGD:1319118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8704464 Son SON DNA and RNA binding protein gene DOID:630 genetic disease ISO RGD:1319118 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25590979|PMID:25741868|PMID:25741875|PMID:27256762|PMID:27545676|PMID:27545680|PMID:28492532|PMID:34521999|PMID:36973392 8704464 Son SON DNA and RNA binding protein gene DOID:8469 influenza ISO RGD:1319119 D RGD:9068941 20221110 RGD PMID:34883209|REF_RGD_ID:155641258 8704464 Son SON DNA and RNA binding protein gene DOID:9003178 Familial Platelet Disorder with Associated Myeloid Malignancy ISO RGD:1319118 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 PMID:17237124|PMID:23512985|PMID:28492532 8704464 Son SON DNA and RNA binding protein gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1319118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 8704464 Son SON DNA and RNA binding protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319118 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality PMID:25590979|PMID:25741868|PMID:25741875|PMID:27256762|PMID:27545676|PMID:27545680|PMID:28492532|PMID:34521999 8704464 Son SON DNA and RNA binding protein gene DOID:9008086 Developmental Disabilities ISO RGD:1319118 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25590979|PMID:25741868|PMID:25741875|PMID:27256762|PMID:27545676|PMID:27545680|PMID:28135719|PMID:28492532|PMID:34521999 8704464 Son SON DNA and RNA binding protein gene DOID:9008582 Developmental Disease ISO RGD:1319118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8704481 Znf81 zinc finger protein 81 gene DOID:0050776 non-syndromic X-linked intellectual disability ISO RGD:1349324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability 8704481 Znf81 zinc finger protein 81 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8704481 Znf81 zinc finger protein 81 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1349324 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 8704481 Znf81 zinc finger protein 81 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1349324 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 8704481 Znf81 zinc finger protein 81 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1349324 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 8704481 Znf81 zinc finger protein 81 gene DOID:0112028 non-syndromic X-linked intellectual disability 45 ISO RGD:1349324 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability, X-linked 45 PMID:10398246|PMID:15121780 8704481 Znf81 zinc finger protein 81 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1349324 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 8704481 Znf81 zinc finger protein 81 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1349324 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 8704481 Znf81 zinc finger protein 81 gene DOID:12849 autistic disorder ISO RGD:1349324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8704490 Lcat lecithin-cholesterol acyltransferase gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:737383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8704490 Lcat lecithin-cholesterol acyltransferase gene DOID:1168 familial hyperlipidemia ISO RGD:2993 D RGD:9068941 20200609 RGD PMID:12935429|REF_RGD_ID:1581787 8704490 Lcat lecithin-cholesterol acyltransferase gene DOID:1391 Norum disease ISO RGD:737383 D RGD:7240710 20180130 OMIM 8704490 Lcat lecithin-cholesterol acyltransferase gene DOID:1391 Norum disease ISO RGD:737383 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Fish-eye disease | ClinVar Annotator: match by term: LCAT deficiency | ClinVar Annotator: match by term: LCAT-related condition | ClinVar Annotator: match by term: LCATA DEFICIENCY | ClinVar Annotator: match by term: Norum disease PMID:1516702|PMID:15297675|PMID:1571050|PMID:1588268|PMID:15994445|PMID:1662503|PMID:1681161|PMID:1737840|PMID:17526537|PMID:1859405|PMID:19687369|PMID:2052566|PMID:21600519|PMID:21875686|PMID:21901787|PMID:22090275|PMID:22189200|PMID:22629316|PMID:22701329|PMID:22923420|PMID:23236364|PMID:2370048|PMID:24503134|PMID:24507774|PMID:24636183|PMID:24715031|PMID:25727495|PMID:25741868|PMID:25948084|PMID:26195816|PMID:28492532|PMID:28870971|PMID:28983876|PMID:29030428|PMID:29083407|PMID:30201532|PMID:30333156|PMID:31164121|PMID:32041611|PMID:33816482|PMID:6078131|PMID:6624548|PMID:7613477|PMID:8432868|PMID:8620346|PMID:8675648|PMID:8755645|PMID:8807342|PMID:9101439|PMID:9180249|PMID:9261271|PMID:9541390|PMID:9741700 8704490 Lcat lecithin-cholesterol acyltransferase gene DOID:2349 arteriosclerosis ISO RGD:10859 D RGD:9068941 20200609 RGD PMID:11809774|REF_RGD_ID:1581783 8704490 Lcat lecithin-cholesterol acyltransferase gene DOID:2349 arteriosclerosis susceptibility ISO RGD:737383 D RGD:9068941 20200609 RGD PMID:12673583|REF_RGD_ID:1581779 8704490 Lcat lecithin-cholesterol acyltransferase gene DOID:5844 myocardial infarction ISO RGD:2993 D RGD:9068941 20200609 RGD PMID:16640830|REF_RGD_ID:1581773 8704490 Lcat lecithin-cholesterol acyltransferase gene DOID:684 hepatocellular carcinoma ISO RGD:737383 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8704490 Lcat lecithin-cholesterol acyltransferase gene DOID:783 end stage renal disease ISO RGD:2993 D RGD:9068941 20200609 RGD PMID:15280162|REF_RGD_ID:1581769 8704490 Lcat lecithin-cholesterol acyltransferase gene DOID:9006599 Hypertriglyceridemia ISO RGD:10859 D RGD:9068941 20200609 RGD PMID:14668345|REF_RGD_ID:1581782 8704490 Lcat lecithin-cholesterol acyltransferase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:2993 D RGD:9068941 20230831 RGD mRNA:decreased expression:liver (rat) PMID:28959666|REF_RGD_ID:401794432 8704490 Lcat lecithin-cholesterol acyltransferase gene DOID:9008870 Chromosome 16q12 Duplication Syndrome ISO RGD:737383 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome PMID:25741868 8704505 Ube2l6 ubiquitin conjugating enzyme E2 L6 gene DOID:1059 intellectual disability ISO RGD:1317456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8704505 Ube2l6 ubiquitin conjugating enzyme E2 L6 gene DOID:9001488 Human Influenza ISO RGD:1317456 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 8704512 Ncdn neurochondrin gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:734133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8704512 Ncdn neurochondrin gene DOID:0111358 Floating-Harbor syndrome ISO RGD:734133 D RGD:8554872 20241217 ClinVar ClinVar Annotator: match by term: Floating-Harbor syndrome PMID:25741868 8704512 Ncdn neurochondrin gene DOID:9005816 NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS ISO RGD:734133 D RGD:7240710 20220216 OMIM 8704512 Ncdn neurochondrin gene DOID:9005816 NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS ISO RGD:734133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with infantile epileptic spasms PMID:25741868|PMID:33711248 8704578 Fancb FA complementation group B gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:1351449 D RGD:9068941 20200609 RGD PMID:17409780|REF_RGD_ID:11049143 8704578 Fancb FA complementation group B gene DOID:0070422 syndromic X-linked intellectual disability Pilorge type ISO RGD:1351449 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked, syndromic, Pilorge type PMID:20479760|PMID:25741868|PMID:28588452 8704578 Fancb FA complementation group B gene DOID:0080139 multiple congenital anomalies-hypotonia-seizures syndrome 2 ISO RGD:1351449 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 PMID:24706016|PMID:26545172|PMID:28492532 8704578 Fancb FA complementation group B gene DOID:0080338 familial erythrocytosis 3 ISO RGD:1351449 D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: GLRA2-related condition PMID:25741868|PMID:28492532 8704578 Fancb FA complementation group B gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1351449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia, group A PMID:25741868|PMID:28492532 8704578 Fancb FA complementation group B gene DOID:0111098 Fanconi anemia complementation group B ISO RGD:1351449 D RGD:7240710 20180130 OMIM 8704578 Fancb FA complementation group B gene DOID:0111098 Fanconi anemia complementation group B ISO RGD:1351449 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: FANCONI PANCYTOPENIA, TYPE 2 | ClinVar Annotator: match by term: Fanconi anemia complementation group B PMID:15502827|PMID:16199547|PMID:16679491|PMID:17924555|PMID:21910217|PMID:23613520|PMID:24033266|PMID:25168418|PMID:25741868|PMID:28492532|PMID:32106311|PMID:32546565|PMID:8368240 8704578 Fancb FA complementation group B gene DOID:0111140 IGSF1 deficiency syndrome ISO RGD:1351449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: X-linked central congenital hypothyroidism with late-onset testicular enlargement PMID:24033266|PMID:25741868|PMID:28492532 8704578 Fancb FA complementation group B gene DOID:0111766 X-linked VACTERL association ISO RGD:1351449 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: VACTERL ASSOCIATION, X-LINKED | ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus | ClinVar Annotator: match by term: VACTERL-H | ClinVar Annotator: match by term: VACTERL-H, X-LINKED | ClinVar Annotator: match by term: X-linked VACTERL-H syndrome PMID:24033266|PMID:25741868|PMID:28492532|PMID:32546565 8704578 Fancb FA complementation group B gene DOID:12849 autistic disorder ISO RGD:1351449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8704578 Fancb FA complementation group B gene DOID:13636 Fanconi anemia ISO RGD:1351449 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia | ClinVar Annotator: match by term: Fanconi's anemia PMID:15502827|PMID:16199547|PMID:17576681|PMID:23613520|PMID:24033266|PMID:25741868|PMID:28492532|PMID:32106311|PMID:32410215|PMID:32546565|PMID:9536098 8704578 Fancb FA complementation group B gene DOID:13636 Fanconi anemia ISO RGD:1351449 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia PMID:15502827|PMID:16199547|PMID:17576681|PMID:23613520|PMID:24033266|PMID:25741868|PMID:28492532|PMID:32106311|PMID:32410215|PMID:32546565|PMID:33558524|PMID:36622392|PMID:9536098 8704578 Fancb FA complementation group B gene DOID:1612 breast cancer ISO RGD:1351449 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:25741868|PMID:28492532|PMID:33558524 8704578 Fancb FA complementation group B gene DOID:3070 high grade glioma ISO RGD:1351449 D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Glioma susceptibility 1 PMID:15502827|PMID:16199547|PMID:23613520|PMID:25741868|PMID:28492532 8704578 Fancb FA complementation group B gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1351449 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:20332657|REF_RGD_ID:11344903 8704578 Fancb FA complementation group B gene DOID:630 genetic disease ISO RGD:1351449 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8704578 Fancb FA complementation group B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8704588 Apcdd1l APC down-regulated 1 like gene DOID:0050752 amyotrophic lateral sclerosis type 8 ISO RGD:1605849 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 PMID:28492532 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:0080410 familial adenomatous polyposis 2 ISO RGD:736238 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 2 PMID:25085752|PMID:25186627|PMID:25741868|PMID:26315354|PMID:26467025|PMID:27443514|PMID:28492532|PMID:29596542|PMID:32268276|PMID:33118316|PMID:33471991|PMID:34326862 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:10534 stomach cancer ISO RGD:736238 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer PMID:16199547|PMID:20077502|PMID:21344236|PMID:23334666|PMID:25741868|PMID:26010302|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26681312|PMID:26720728|PMID:27009842|PMID:28050010|PMID:28174632|PMID:28492532|PMID:28709830|PMID:28724667|PMID:29338689|PMID:29367421|PMID:29922827|PMID:31036035|PMID:31371347|PMID:31843900|PMID:32566746|PMID:32832836|PMID:33471991|PMID:33498765|PMID:34196900|PMID:36988593 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:1324 lung cancer ISO RGD:736238 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Lung cancer PMID:19197335|PMID:20077502|PMID:25741868|PMID:26467025|PMID:26738429|PMID:28492532 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:1520 colon carcinoma ISO RGD:736238 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:19197335|PMID:20077502|PMID:25741868|PMID:26350354|PMID:26467025|PMID:26738429|PMID:28135145|PMID:28492532|PMID:31371347 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:1612 breast cancer ISO RGD:736238 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:11807980|PMID:14550946|PMID:15342711|PMID:15855157|PMID:16061562|PMID:16333312|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17576681|PMID:17848578|PMID:17972171|PMID:18089818|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:21344236|PMID:21393566|PMID:22006311|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24123366|PMID:24454733|PMID:25186627|PMID:25288723|PMID:25428789|PMID:25452441|PMID:25503501|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26534844|PMID:26546047|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26692440|PMID:26720728|PMID:26738429|PMID:26786923|PMID:26787654|PMID:26898890|PMID:26976419|PMID:26979391|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27328445|PMID:27443514|PMID:27621404|PMID:27720647|PMID:27742771|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28050010|PMID:28135145|PMID:28174632|PMID:28202063|PMID:28301456|PMID:28492532|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28821472|PMID:28873162|PMID:28888541|PMID:29292755|PMID:29596542|PMID:29625052|PMID:29785153|PMID:29858377|PMID:29905759|PMID:29922827|PMID:30067863|PMID:30374176|PMID:30925164|PMID:30982232|PMID:31036035|PMID:31371347|PMID:31666926|PMID:31871109|PMID:32039725|PMID:32068069|PMID:32268276|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32726901|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32980694|PMID:32984025|PMID:33118316|PMID:33309985|PMID:33471991|PMID:33498765|PMID:34754157|PMID:9425226|PMID:9536098 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:1612 breast cancer ISO RGD:736238 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:11807980|PMID:14550946|PMID:15342711|PMID:15855157|PMID:16061562|PMID:16333312|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17576681|PMID:17848578|PMID:17972171|PMID:18089818|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:21344236|PMID:21393566|PMID:22006311|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24123366|PMID:24454733|PMID:25085752|PMID:25186627|PMID:25288723|PMID:25326637|PMID:25428789|PMID:25452441|PMID:25503501|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26534844|PMID:26546047|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26692440|PMID:26720728|PMID:26738429|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26898890|PMID:26976419|PMID:26979391|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27328445|PMID:27443514|PMID:27621404|PMID:27720647|PMID:27742771|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28050010|PMID:28135145|PMID:28174632|PMID:28202063|PMID:28301456|PMID:28492532|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28821472|PMID:28873162|PMID:28888541|PMID:29292755|PMID:29478780|PMID:29596542|PMID:29625052|PMID:29758562|PMID:29785153|PMID:29905759|PMID:29922827|PMID:30067863|PMID:30093976|PMID:30374176|PMID:30781715|PMID:30925164|PMID:30982232|PMID:31036035|PMID:31371347|PMID:31666926|PMID:31871109|PMID:32039725|PMID:32068069|PMID:32268276|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32679805|PMID:32726901|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32980694|PMID:32984025|PMID:33118316|PMID:33309985|PMID:33471991|PMID:33498765|PMID:33598691|PMID:34196900|PMID:34326862|PMID:34754157|PMID:34906988|PMID:35264596|PMID:36187937|PMID:36988593|PMID:37149759|PMID:37337119|PMID:9425226|PMID:9536098 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:1612 breast cancer ISO RGD:736238 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:11807980|PMID:14550946|PMID:15342711|PMID:15855157|PMID:16061562|PMID:16333312|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17576681|PMID:17848578|PMID:17972171|PMID:18089818|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:21344236|PMID:21393566|PMID:22006311|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24123366|PMID:24454733|PMID:25085752|PMID:25186627|PMID:25288723|PMID:25428789|PMID:25452441|PMID:25503501|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26534844|PMID:26546047|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26692440|PMID:26720728|PMID:26738429|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26898890|PMID:26976419|PMID:26979391|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27328445|PMID:27443514|PMID:27621404|PMID:27720647|PMID:27742771|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28050010|PMID:28135145|PMID:28174632|PMID:28202063|PMID:28301456|PMID:28492532|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28821472|PMID:28873162|PMID:28888541|PMID:29292755|PMID:29478780|PMID:29596542|PMID:29625052|PMID:29758562|PMID:29785153|PMID:29905759|PMID:29922827|PMID:30067863|PMID:30093976|PMID:30374176|PMID:30781715|PMID:30925164|PMID:30982232|PMID:31036035|PMID:31371347|PMID:31666926|PMID:31794323|PMID:31871109|PMID:32039725|PMID:32068069|PMID:32268276|PMID:32295079|PMID:32338768|PMID:32427313|PMID:32566746|PMID:32679805|PMID:32726901|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32980694|PMID:32984025|PMID:33118316|PMID:33309985|PMID:33471991|PMID:33498765|PMID:33598691|PMID:34196900|PMID:34326862|PMID:34754157|PMID:34906988|PMID:35264596|PMID:35534704|PMID:35833951|PMID:36187937|PMID:36988593|PMID:37149759|PMID:37337119|PMID:38153744|PMID:9425226|PMID:9536098 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:1612 breast cancer no_association ISO RGD:736238 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.C557S (human) PMID:17333333|REF_RGD_ID:2315714 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:1612 breast cancer no_association ISO RGD:736238 D RGD:9068941 20200609 RGD DNA:polymorphisms: :multiple (human) PMID:17972171|REF_RGD_ID:2315715 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:1612 breast cancer no_association ISO RGD:736238 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.V507M, p.C557S (human) PMID:16333312|REF_RGD_ID:2315717 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:1612 breast cancer severity ISO RGD:736238 D RGD:9068941 20200609 RGD protein:increased expression, altered localization:breast PMID:16152612|REF_RGD_ID:2315727 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:1612 breast cancer susceptibility ISO RGD:736238 D RGD:7240710 20230505 OMIM 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:1781 thyroid cancer ISO RGD:736238 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Thyroid cancer PMID:25186627|PMID:25741868|PMID:26315354|PMID:26467025|PMID:26787654|PMID:26976419|PMID:28492532|PMID:33471991|PMID:34326862 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:2394 ovarian cancer ISO RGD:736238 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Ovarian cancer PMID:15855157|PMID:19139070|PMID:23056176|PMID:25085752|PMID:25186627|PMID:25741868|PMID:25980754|PMID:26010302|PMID:26350354|PMID:26467025|PMID:26757417|PMID:26787654|PMID:27498913|PMID:28051113|PMID:28492532|PMID:28912018|PMID:29905759|PMID:30093976|PMID:30584090|PMID:30925164|PMID:30982232|PMID:31036035|PMID:31666926|PMID:31871109|PMID:32008151|PMID:32068069|PMID:32566746|PMID:32832836|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33646313|PMID:34326862|PMID:34646395|PMID:34754157|PMID:35079693|PMID:35402282|PMID:38509102 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:2871 endometrial carcinoma ISO RGD:736238 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:20077502|PMID:21344236|PMID:25330149|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26315354|PMID:26329992|PMID:26467025|PMID:26681312|PMID:26689913|PMID:27153395|PMID:27443514|PMID:28008555|PMID:28492532|PMID:29625052|PMID:30947698|PMID:31036035|PMID:32295079|PMID:32679805|PMID:33471991|PMID:37239058|PMID:37563628 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:3459 breast carcinoma ISO RGD:736238 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Breast carcinoma PMID:1584056|PMID:16199547|PMID:20077502|PMID:21344236|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28724667|PMID:29625052|PMID:29922827|PMID:31036035|PMID:31371347|PMID:31887429|PMID:32658311|PMID:32832836|PMID:33471991|PMID:33479248 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:736238 D RGD:9068941 20210604 RGD PMID:21815143|REF_RGD_ID:127229947 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome PMID:12832489|PMID:15855157|PMID:16199547|PMID:17550235|PMID:17848578|PMID:19139070|PMID:20077502|PMID:21344236|PMID:22006311|PMID:23056176|PMID:23334666|PMID:25186627|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26720728|PMID:26738429|PMID:26976419|PMID:26979419|PMID:27083178|PMID:27443514|PMID:27978560|PMID:28008555|PMID:28050010|PMID:28174632|PMID:28492532|PMID:28709830|PMID:28724667|PMID:29292755|PMID:29700634|PMID:29790872|PMID:29905759|PMID:29922827|PMID:30322717|PMID:30925164|PMID:31036035|PMID:31341520|PMID:31371347|PMID:31843900|PMID:32295079|PMID:32566746|PMID:32832836 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736238 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11807980|PMID:12832489|PMID:14550946|PMID:15342711|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17848578|PMID:17972171|PMID:18480049|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:20842729|PMID:21344236|PMID:21393566|PMID:22006311|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24454733|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26720728|PMID:26738429|PMID:26787654|PMID:26976419|PMID:26979419|PMID:27083178|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27978560|PMID:28008555|PMID:28050010|PMID:28174632|PMID:28492532|PMID:28709830|PMID:28724667|PMID:29292755|PMID:29700634|PMID:29769598|PMID:29790872|PMID:29905759|PMID:29922827|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30925164|PMID:31036035|PMID:31341520|PMID:31371347|PMID:31843900|PMID:31871109|PMID:32039725|PMID:32295079|PMID:32566746|PMID:32726901|PMID:32832836|PMID:33471991|PMID:33552952|PMID:9425226 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736238 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11807980|PMID:12832489|PMID:14550946|PMID:15342711|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17848578|PMID:17972171|PMID:18480049|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:20842729|PMID:21344236|PMID:21393566|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24454733|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26720728|PMID:26738429|PMID:26787654|PMID:26976419|PMID:26979419|PMID:27083178|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27978560|PMID:28008555|PMID:28050010|PMID:28174632|PMID:28492532|PMID:28709830|PMID:28724667|PMID:29292755|PMID:29700634|PMID:29769598|PMID:29790872|PMID:29905759|PMID:29922827|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30925164|PMID:31036035|PMID:31341520|PMID:31371347|PMID:31843900|PMID:31871109|PMID:32039725|PMID:32295079|PMID:32566746|PMID:32726901|PMID:32832836|PMID:33471991|PMID:33552952|PMID:9425226 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736238 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11807980|PMID:12832489|PMID:14550946|PMID:15342711|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17848578|PMID:17972171|PMID:18480049|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:20842729|PMID:21344236|PMID:21393566|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24454733|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26738429|PMID:26787654|PMID:26976419|PMID:26979419|PMID:27083178|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27978560|PMID:28008555|PMID:28050010|PMID:28174632|PMID:28492532|PMID:28709830|PMID:28724667|PMID:29292755|PMID:29625052|PMID:29700634|PMID:29769598|PMID:29790872|PMID:29905759|PMID:29922827|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30925164|PMID:31036035|PMID:31341520|PMID:31371347|PMID:31843900|PMID:31871109|PMID:32039725|PMID:32295079|PMID:32566746|PMID:32726901|PMID:32832836|PMID:32980694|PMID:33471991|PMID:33498765|PMID:33552952|PMID:34034685|PMID:9425226 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736238 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11807980|PMID:12832489|PMID:14550946|PMID:15342711|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17848578|PMID:17972171|PMID:18480049|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:20842729|PMID:21344236|PMID:21393566|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24454733|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26738429|PMID:26787654|PMID:26976419|PMID:26979419|PMID:27083178|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28050010|PMID:28174632|PMID:28492532|PMID:28709830|PMID:28724667|PMID:28888541|PMID:29292755|PMID:29625052|PMID:29700634|PMID:29769598|PMID:29790872|PMID:29905759|PMID:29922827|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30925164|PMID:31036035|PMID:31341520|PMID:31371347|PMID:31843900|PMID:31871109|PMID:32039725|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32726901|PMID:32832836|PMID:32980694|PMID:33471991|PMID:33498765|PMID:33552952|PMID:34034685|PMID:9425226 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736238 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11807980|PMID:12832489|PMID:14550946|PMID:15342711|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17848578|PMID:17972171|PMID:18480049|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:20842729|PMID:21344236|PMID:21393566|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24454733|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26738429|PMID:26787654|PMID:26976419|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28050010|PMID:28174632|PMID:28492532|PMID:28709830|PMID:28724667|PMID:28888541|PMID:29292755|PMID:29625052|PMID:29641532|PMID:29700634|PMID:29769598|PMID:29790872|PMID:29905759|PMID:29922827|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30925164|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31341520|PMID:31371347|PMID:31666926|PMID:31843900|PMID:31871109|PMID:32039725|PMID:32068069|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32658311|PMID:32726901|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33498765|PMID:33552952|PMID:33606809|PMID:34034685|PMID:34250417|PMID:34754157|PMID:9425226 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736238 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11807980|PMID:12832489|PMID:14550946|PMID:15342711|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17848578|PMID:17972171|PMID:18480049|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:20842729|PMID:21344236|PMID:21393566|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24454733|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26738429|PMID:26787654|PMID:26976419|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28050010|PMID:28174632|PMID:28492532|PMID:28709830|PMID:28724667|PMID:28888541|PMID:29292755|PMID:29625052|PMID:29641532|PMID:29700634|PMID:29769598|PMID:29790872|PMID:29905759|PMID:29922827|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30781715|PMID:30925164|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31341520|PMID:31371347|PMID:31666926|PMID:31843900|PMID:31871109|PMID:32039725|PMID:32068069|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32726901|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33498765|PMID:33552952|PMID:33606809|PMID:34034685|PMID:34250417|PMID:34754157|PMID:9425226 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736238 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11807980|PMID:12832489|PMID:14550946|PMID:15342711|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17848578|PMID:17972171|PMID:18480049|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:20842729|PMID:21344236|PMID:21393566|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24454733|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26738429|PMID:26787654|PMID:26976419|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28050010|PMID:28174632|PMID:28492532|PMID:28709830|PMID:28724667|PMID:28888541|PMID:29292755|PMID:29367421|PMID:29625052|PMID:29641532|PMID:29700634|PMID:29769598|PMID:29790872|PMID:29905759|PMID:29922827|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30781715|PMID:30925164|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31341520|PMID:31371347|PMID:31666926|PMID:31843900|PMID:31871109|PMID:32039725|PMID:32068069|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32726901|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33498765|PMID:33552952|PMID:33606809|PMID:34034685|PMID:34250417|PMID:34754157|PMID:9425226 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736238 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11807980|PMID:12832489|PMID:14550946|PMID:15342711|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17848578|PMID:17972171|PMID:18480049|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:20842729|PMID:21344236|PMID:21393566|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24454733|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26738429|PMID:26787654|PMID:26976419|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28050010|PMID:28174632|PMID:28492532|PMID:28709830|PMID:28724667|PMID:28888541|PMID:29292755|PMID:29367421|PMID:29625052|PMID:29641532|PMID:29700634|PMID:29769598|PMID:29790872|PMID:29905759|PMID:29922827|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30781715|PMID:30925164|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31341520|PMID:31371347|PMID:31666926|PMID:31843900|PMID:31871109|PMID:32039725|PMID:32068069|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32726901|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33498765|PMID:33552952|PMID:33606809|PMID:34034685|PMID:34196900|PMID:34250417|PMID:34754157|PMID:9425226 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736238 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11807980|PMID:12832489|PMID:14550946|PMID:15342711|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17848578|PMID:17972171|PMID:18480049|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:20842729|PMID:21344236|PMID:21393566|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24454733|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26738429|PMID:26787654|PMID:26976419|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28050010|PMID:28174632|PMID:28492532|PMID:28709830|PMID:28724667|PMID:28888541|PMID:29292755|PMID:29367421|PMID:29625052|PMID:29641532|PMID:29700634|PMID:29769598|PMID:29790872|PMID:29905759|PMID:29922827|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30781715|PMID:30925164|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31341520|PMID:31371347|PMID:31666926|PMID:31843900|PMID:31871109|PMID:32039725|PMID:32068069|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32726901|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33498765|PMID:33552952|PMID:33606809|PMID:34034685|PMID:34196900|PMID:34250417|PMID:34754157|PMID:36988593|PMID:9425226 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736238 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11807980|PMID:12832489|PMID:14550946|PMID:15342711|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17848578|PMID:17972171|PMID:18480049|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:20842729|PMID:21344236|PMID:21393566|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24454733|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26738429|PMID:26787654|PMID:26976419|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28050010|PMID:28174632|PMID:28492532|PMID:28709830|PMID:28724667|PMID:28888541|PMID:29292755|PMID:29367421|PMID:29625052|PMID:29641532|PMID:29700634|PMID:29769598|PMID:29790872|PMID:29905759|PMID:29922827|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30781715|PMID:30925164|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31341520|PMID:31371347|PMID:31666926|PMID:31843900|PMID:31871109|PMID:32039725|PMID:32068069|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32726901|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33479248|PMID:33498765|PMID:33552952|PMID:33606809|PMID:34034685|PMID:34196900|PMID:34250417|PMID:34754157|PMID:36988593|PMID:9425226 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736238 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11807980|PMID:12832489|PMID:14550946|PMID:15342711|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17848578|PMID:17972171|PMID:18480049|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:20842729|PMID:21344236|PMID:21393566|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24454733|PMID:25085752|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26738429|PMID:26787654|PMID:26976419|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28050010|PMID:28174632|PMID:28492532|PMID:28709830|PMID:28724667|PMID:28888541|PMID:29292755|PMID:29367421|PMID:29625052|PMID:29641532|PMID:29700634|PMID:29769598|PMID:29790872|PMID:29905759|PMID:29922827|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30781715|PMID:30925164|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31341520|PMID:31371347|PMID:31666926|PMID:31843900|PMID:31871109|PMID:32039725|PMID:32068069|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32726901|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33479248|PMID:33498765|PMID:33552952|PMID:33606809|PMID:34034685|PMID:34196900|PMID:34250417|PMID:34754157|PMID:35264596|PMID:36988593|PMID:9425226 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736238 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11807980|PMID:12832489|PMID:14550946|PMID:15342711|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17848578|PMID:17972171|PMID:18480049|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:20842729|PMID:21344236|PMID:21393566|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24454733|PMID:25085752|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26738429|PMID:26787654|PMID:26976419|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28050010|PMID:28174632|PMID:28492532|PMID:28709830|PMID:28724667|PMID:28888541|PMID:29292755|PMID:29367421|PMID:29625052|PMID:29641532|PMID:29700634|PMID:29769598|PMID:29790872|PMID:29905759|PMID:29922827|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30781715|PMID:30925164|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31341520|PMID:31371347|PMID:31666926|PMID:31843900|PMID:31871109|PMID:32039725|PMID:32068069|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32726901|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33479248|PMID:33498765|PMID:33552952|PMID:33606809|PMID:33809641|PMID:34034685|PMID:34196900|PMID:34250417|PMID:34754157|PMID:35264596|PMID:35734982|PMID:36988593|PMID:9425226 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736238 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11807980|PMID:12832489|PMID:14550946|PMID:15342711|PMID:1584056|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17576681|PMID:17848578|PMID:17972171|PMID:18089818|PMID:18480049|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:20842729|PMID:21344236|PMID:21393566|PMID:22006311|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24123366|PMID:24454733|PMID:24463508|PMID:25085752|PMID:25186627|PMID:25288723|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26738429|PMID:26787654|PMID:26898890|PMID:26976419|PMID:26979391|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27328445|PMID:27443514|PMID:27498913|PMID:27621404|PMID:27720647|PMID:27742771|PMID:27913932|PMID:27978560|PMID:27997549|PMID:28008555|PMID:28050010|PMID:28135145|PMID:28174632|PMID:28492532|PMID:28640387|PMID:28709830|PMID:28724667|PMID:28821472|PMID:28873162|PMID:28888541|PMID:28912018|PMID:29292755|PMID:29338689|PMID:29367421|PMID:29625052|PMID:29641532|PMID:29700634|PMID:29769598|PMID:29785153|PMID:29790872|PMID:29905759|PMID:29922827|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30781715|PMID:30925164|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31159747|PMID:31275557|PMID:31341520|PMID:31371347|PMID:31666926|PMID:31843900|PMID:31871109|PMID:32039725|PMID:32068069|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32726901|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33479248|PMID:33498765|PMID:33552952|PMID:33598691|PMID:33606809|PMID:33809641|PMID:34034685|PMID:34196900|PMID:34250417|PMID:34326862|PMID:34646395|PMID:34754157|PMID:34906988|PMID:35264596|PMID:35595798|PMID:35734982|PMID:35768576|PMID:35957908|PMID:36988593|PMID:37239058|PMID:37563628|PMID:9425226|PMID:9536098 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736238 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11807980|PMID:12832489|PMID:14550946|PMID:15342711|PMID:1584056|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17576681|PMID:17848578|PMID:17972171|PMID:18089818|PMID:18480049|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:20842729|PMID:21344236|PMID:21393566|PMID:22006311|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24123366|PMID:24454733|PMID:24463508|PMID:25085752|PMID:25186627|PMID:25288723|PMID:25318351|PMID:25326637|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26738429|PMID:26787654|PMID:26898890|PMID:26976419|PMID:26979391|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27328445|PMID:27443514|PMID:27498913|PMID:27621404|PMID:27720647|PMID:27742771|PMID:27913932|PMID:27978560|PMID:27997549|PMID:28008555|PMID:28050010|PMID:28135145|PMID:28174632|PMID:28492532|PMID:28640387|PMID:28709830|PMID:28724667|PMID:28821472|PMID:28873162|PMID:28888541|PMID:28912018|PMID:29292755|PMID:29338689|PMID:29367421|PMID:29625052|PMID:29641532|PMID:29700634|PMID:29769598|PMID:29785153|PMID:29790872|PMID:29905759|PMID:29922827|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30781715|PMID:30925164|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31159747|PMID:31275557|PMID:31341520|PMID:31371347|PMID:31666926|PMID:31843900|PMID:31871109|PMID:32039725|PMID:32068069|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32726901|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33479248|PMID:33498765|PMID:33552952|PMID:33598691|PMID:33606809|PMID:33809641|PMID:34034685|PMID:34196900|PMID:34250417|PMID:34326862|PMID:34646395|PMID:34754157|PMID:34906988|PMID:35264596|PMID:35595798|PMID:35734982|PMID:35768576|PMID:35957908|PMID:36988593|PMID:37239058|PMID:37563628|PMID:9425226|PMID:9536098 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736238 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11807980|PMID:12832489|PMID:14550946|PMID:15342711|PMID:1584056|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17576681|PMID:17848578|PMID:17972171|PMID:18089818|PMID:18480049|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:20842729|PMID:21344236|PMID:21393566|PMID:22006311|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24123366|PMID:24454733|PMID:24463508|PMID:25085752|PMID:25186627|PMID:25288723|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26738429|PMID:26787654|PMID:26898890|PMID:26976419|PMID:26979391|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27328445|PMID:27443514|PMID:27498913|PMID:27621404|PMID:27720647|PMID:27742771|PMID:27878467|PMID:27913932|PMID:27978560|PMID:27997549|PMID:28008555|PMID:28050010|PMID:28135145|PMID:28174632|PMID:28486781|PMID:28492532|PMID:28640387|PMID:28709830|PMID:28724667|PMID:28821472|PMID:28873162|PMID:28888541|PMID:28912018|PMID:29292755|PMID:29338689|PMID:2936742|PMID:29367421|PMID:29625052|PMID:29641532|PMID:29700634|PMID:29752822|PMID:29769598|PMID:29785153|PMID:29790872|PMID:29905759|PMID:29922827|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30781715|PMID:30925164|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31159747|PMID:31275557|PMID:31341520|PMID:31371347|PMID:31666926|PMID:31843900|PMID:31871109|PMID:32039725|PMID:32068069|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32726901|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33479248|PMID:33498765|PMID:33552952|PMID:33598691|PMID:33606809|PMID:33809641|PMID:34034685|PMID:34196900|PMID:34250417|PMID:34326862|PMID:34646395|PMID:34680878|PMID:34754157|PMID:34906988|PMID:35264596|PMID:35595798|PMID:35734982|PMID:35768576|PMID:35957908|PMID:36988593|PMID:37239058|PMID:37563628|PMID:9425226|PMID:9536098 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736238 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11807980|PMID:12832489|PMID:14550946|PMID:15342711|PMID:1584056|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17576681|PMID:17848578|PMID:17972171|PMID:18089818|PMID:18480049|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:20842729|PMID:21344236|PMID:21393566|PMID:22006311|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24123366|PMID:24454733|PMID:24463508|PMID:25085752|PMID:25186627|PMID:25288723|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26738429|PMID:26787654|PMID:26898890|PMID:26976419|PMID:26979391|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27328445|PMID:27443514|PMID:27498913|PMID:27621404|PMID:27720647|PMID:27742771|PMID:27878467|PMID:27913932|PMID:27978560|PMID:27997549|PMID:28008555|PMID:28050010|PMID:28135145|PMID:28174632|PMID:28486781|PMID:28492532|PMID:28640387|PMID:28709830|PMID:28724667|PMID:28821472|PMID:28873162|PMID:28888541|PMID:28912018|PMID:29292755|PMID:29338689|PMID:2936742|PMID:29367421|PMID:29625052|PMID:29641532|PMID:29700634|PMID:29752822|PMID:29769598|PMID:29785153|PMID:29790872|PMID:29905759|PMID:29922827|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30781715|PMID:30925164|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31159747|PMID:31275557|PMID:31341520|PMID:31371347|PMID:31666926|PMID:31843900|PMID:31871109|PMID:31887429|PMID:32039725|PMID:32068069|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32726901|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33479248|PMID:33498765|PMID:33552952|PMID:33598691|PMID:33606809|PMID:33809641|PMID:34034685|PMID:34196900|PMID:34250417|PMID:34326862|PMID:34646395|PMID:34680878|PMID:34754157|PMID:34906988|PMID:35264596|PMID:35534704|PMID:35595798|PMID:35734982|PMID:35768576|PMID:35957908|PMID:36187937|PMID:36243179|PMID:36833268|PMID:36896836|PMID:36988593|PMID:37239058|PMID:37563628|PMID:9425226|PMID:9536098 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736238 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11807980|PMID:12832489|PMID:14550946|PMID:15342711|PMID:1584056|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17576681|PMID:17848578|PMID:17972171|PMID:18089818|PMID:18480049|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:20842729|PMID:21344236|PMID:21393566|PMID:22006311|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24123366|PMID:24454733|PMID:24463508|PMID:25085752|PMID:25186627|PMID:25288723|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26738429|PMID:26787654|PMID:26898890|PMID:26976419|PMID:26979391|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27328445|PMID:27443514|PMID:27498913|PMID:27621404|PMID:27720647|PMID:27742771|PMID:27878467|PMID:27913932|PMID:27978560|PMID:27997549|PMID:28008555|PMID:28050010|PMID:28135145|PMID:28174632|PMID:28486781|PMID:28492532|PMID:28640387|PMID:28709830|PMID:28715532|PMID:28724667|PMID:28821472|PMID:28873162|PMID:28888541|PMID:28912018|PMID:29292755|PMID:29338689|PMID:2936742|PMID:29367421|PMID:29625052|PMID:29641532|PMID:29700634|PMID:29752822|PMID:29769598|PMID:29785153|PMID:29790872|PMID:29905759|PMID:29922827|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30781715|PMID:30925164|PMID:30927264|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31159747|PMID:31275557|PMID:31341520|PMID:31371347|PMID:31666926|PMID:31843900|PMID:31871109|PMID:31887429|PMID:32039725|PMID:32068069|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32726901|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33479248|PMID:33498765|PMID:33552952|PMID:33598691|PMID:33606809|PMID:33809641|PMID:34034685|PMID:34196900|PMID:34250417|PMID:34326862|PMID:34646395|PMID:34680878|PMID:34754157|PMID:34906988|PMID:35264596|PMID:35534704|PMID:35595798|PMID:35734982|PMID:35768576|PMID:35957908|PMID:36187937|PMID:36243179|PMID:36833268|PMID:36896836|PMID:36988593|PMID:37239058|PMID:37563628|PMID:9425226|PMID:9536098 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:687 hepatoblastoma ISO RGD:736238 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:25741868|PMID:26467025|PMID:26580448|PMID:28492532|PMID:35264596|PMID:35495172|PMID:35534704|PMID:36187937 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:769 neuroblastoma ISO RGD:736238 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19412175|PMID:23334666 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:8466 retinal degeneration ISO RGD:621072 D RGD:9068941 20230525 RGD associated with hyperaldosterone; mRNA:decreased expression:retina (rat) PMID:29713904|REF_RGD_ID:152025547 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:736238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian neoplasm 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:9004083 Familial Pancreatic Carcinoma ISO RGD:736238 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Familial pancreatic carcinoma PMID:25085752|PMID:25741868|PMID:26315354|PMID:26467025|PMID:26787654|PMID:28135145|PMID:28492532|PMID:30925164|PMID:31371347|PMID:32068069|PMID:33471991 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:9004745 RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES ISO RGD:621072 D RGD:9068941 20230525 RGD associated with hyperaldosterone; mRNA:decreased expression:retina (rat) PMID:29713904|REF_RGD_ID:152025547 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:733490 D RGD:9068941 20200609 RGD PMID:18443292|REF_RGD_ID:2293149 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736238 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11807980|PMID:12832489|PMID:14550946|PMID:14578343|PMID:15040442|PMID:15342711|PMID:15782130|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16651405|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17576681|PMID:17848578|PMID:17972171|PMID:18089818|PMID:18480049|PMID:18481171|PMID:18842000|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20030863|PMID:2007750|PMID:20077502|PMID:20379136|PMID:20842729|PMID:21344236|PMID:21393566|PMID:22006311|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24123366|PMID:24454733|PMID:24463508|PMID:25058500|PMID:25186627|PMID:25288723|PMID:25318351|PMID:25326637|PMID:25330149|PMID:25428789|PMID:25452441|PMID:25503501|PMID:25634209|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26534844|PMID:26546047|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26720728|PMID:26738429|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26898890|PMID:26976419|PMID:26979391|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27621404|PMID:27720647|PMID:27742771|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28030839|PMID:28050010|PMID:28051113|PMID:28135145|PMID:28174632|PMID:28202063|PMID:28281021|PMID:28301456|PMID:28486781|PMID:28492532|PMID:28640387|PMID:28709830|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28821472|PMID:28873162|PMID:28888541|PMID:28912018|PMID:28976962|PMID:29263802|PMID:29292755|PMID:29367421|PMID:29368341|PMID:29478780|PMID:29596542|PMID:29625052|PMID:29667044|PMID:29700634|PMID:29752822|PMID:29769598|PMID:29785153|PMID:29790872|PMID:29858377|PMID:29905759|PMID:29915797|PMID:29922827|PMID:29978187|PMID:30067863|PMID:30093976|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30541756|PMID:30613976|PMID:30680046|PMID:30804502|PMID:30925164|PMID:31036035|PMID:31159747|PMID:31275557|PMID:31341520|PMID:31371347|PMID:31465090|PMID:31512090|PMID:31843900|PMID:31871109|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32566746|PMID:32658311|PMID:32726901|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32980694|PMID:33118316|PMID:33309985|PMID:33471991|PMID:33498765|PMID:33552952|PMID:33692861|PMID:34034685|PMID:34102105|PMID:34359559|PMID:34906988|PMID:9425226|PMID:9536098 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736238 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:11807980|PMID:12832489|PMID:14550946|PMID:14578343|PMID:15040442|PMID:15342711|PMID:15782130|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16651405|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17576681|PMID:17848578|PMID:17972171|PMID:18089818|PMID:18480049|PMID:18481171|PMID:18842000|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20030863|PMID:2007750|PMID:20077502|PMID:20379136|PMID:20842729|PMID:21344236|PMID:21393566|PMID:22006311|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24123366|PMID:24454733|PMID:24463508|PMID:25058500|PMID:25186627|PMID:25288723|PMID:25318351|PMID:25326637|PMID:25330149|PMID:25428789|PMID:25452441|PMID:25503501|PMID:25634209|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26534844|PMID:26546047|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26720728|PMID:26738429|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26898890|PMID:26976419|PMID:26979391|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27621404|PMID:27720647|PMID:27742771|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28030839|PMID:28050010|PMID:28051113|PMID:28135145|PMID:28174632|PMID:28202063|PMID:28281021|PMID:28301456|PMID:28486781|PMID:28492532|PMID:28640387|PMID:28709830|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28821472|PMID:28828701|PMID:28873162|PMID:28888541|PMID:28912018|PMID:28976962|PMID:29263802|PMID:29292755|PMID:29367421|PMID:29368341|PMID:29478780|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29700634|PMID:29752822|PMID:29769598|PMID:29785153|PMID:29790872|PMID:29858377|PMID:29868112|PMID:29905759|PMID:29915797|PMID:29922827|PMID:29978187|PMID:30067863|PMID:30093976|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30541756|PMID:30613976|PMID:30676620|PMID:30680046|PMID:30804502|PMID:30925164|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31118792|PMID:31159747|PMID:31275557|PMID:31341520|PMID:31371347|PMID:31465090|PMID:31512090|PMID:31666926|PMID:31742824|PMID:31803232|PMID:31843900|PMID:31871109|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32720237|PMID:32726901|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32885271|PMID:32959997|PMID:32980694|PMID:32984025|PMID:33118316|PMID:33309985|PMID:33471991|PMID:33498765|PMID:33552952|PMID:33606809|PMID:33646313|PMID:33692861|PMID:34034685|PMID:34102105|PMID:34250417|PMID:34359559|PMID:34754157|PMID:34906988|PMID:35402282|PMID:9425226|PMID:9536098 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736238 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11807980|PMID:12832489|PMID:14550946|PMID:14578343|PMID:15040442|PMID:15342711|PMID:15782130|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16651405|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17576681|PMID:17848578|PMID:17972171|PMID:18089818|PMID:18480049|PMID:18481171|PMID:18842000|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20030863|PMID:20077502|PMID:20379136|PMID:20842729|PMID:21344236|PMID:21393566|PMID:22006311|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24123366|PMID:24454733|PMID:24463508|PMID:25058500|PMID:25186627|PMID:25288723|PMID:25318351|PMID:25326637|PMID:25330149|PMID:25428789|PMID:25452441|PMID:25503501|PMID:25634209|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26534844|PMID:26546047|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26720728|PMID:26738429|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26898890|PMID:26976419|PMID:26979391|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27621404|PMID:27720647|PMID:27742771|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28030839|PMID:28050010|PMID:28051113|PMID:28135145|PMID:28174632|PMID:28202063|PMID:28281021|PMID:28301456|PMID:28486781|PMID:28492532|PMID:28640387|PMID:28709830|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28821472|PMID:28828701|PMID:28873162|PMID:28888541|PMID:28912018|PMID:28976962|PMID:29263802|PMID:29292755|PMID:29367421|PMID:29368341|PMID:29478780|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29700634|PMID:29752822|PMID:29769598|PMID:29785153|PMID:29790872|PMID:29858377|PMID:29868112|PMID:29905759|PMID:29915797|PMID:29922827|PMID:29978187|PMID:30067863|PMID:30093976|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30541756|PMID:30613976|PMID:30676620|PMID:30680046|PMID:30781715|PMID:30804502|PMID:30833958|PMID:30925164|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31118792|PMID:31159747|PMID:31275557|PMID:31341520|PMID:31371347|PMID:31465090|PMID:31512090|PMID:31666926|PMID:31742824|PMID:31803232|PMID:31843900|PMID:31871109|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32720237|PMID:32726901|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32885271|PMID:32959997|PMID:32980694|PMID:32984025|PMID:33118316|PMID:33309985|PMID:33471991|PMID:33498765|PMID:33552952|PMID:33606809|PMID:33646313|PMID:33692861|PMID:34034685|PMID:34102105|PMID:34196900|PMID:34250417|PMID:34359559|PMID:34754157|PMID:34906988|PMID:35402282|PMID:36187937|PMID:9425226|PMID:9536098 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736238 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11807980|PMID:12832489|PMID:14550946|PMID:14578343|PMID:15040442|PMID:15342711|PMID:15782130|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16651405|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17576681|PMID:17848578|PMID:17972171|PMID:18089818|PMID:18480049|PMID:18481171|PMID:18842000|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20030863|PMID:20077502|PMID:20379136|PMID:20842729|PMID:21344236|PMID:21393566|PMID:22006311|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24123366|PMID:24454733|PMID:24463508|PMID:25058500|PMID:25085752|PMID:25186627|PMID:25288723|PMID:25318351|PMID:25330149|PMID:25428789|PMID:25452441|PMID:25503501|PMID:25634209|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26534844|PMID:26546047|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26720728|PMID:26738429|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26898890|PMID:26976419|PMID:26979391|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27621404|PMID:27720647|PMID:27742771|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28030839|PMID:28050010|PMID:28051113|PMID:28135145|PMID:28174632|PMID:28202063|PMID:28281021|PMID:28301456|PMID:28486781|PMID:28492532|PMID:28640387|PMID:28709830|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28821472|PMID:28828701|PMID:28873162|PMID:28888541|PMID:28912018|PMID:28976962|PMID:29025590|PMID:29263802|PMID:29292755|PMID:29367421|PMID:29368341|PMID:29478780|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29700634|PMID:29752822|PMID:29758562|PMID:29769598|PMID:29785153|PMID:29790872|PMID:29858377|PMID:29868112|PMID:29905759|PMID:29915797|PMID:29922827|PMID:29978187|PMID:30067863|PMID:30093976|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30541756|PMID:30613976|PMID:30676620|PMID:30680046|PMID:30781715|PMID:30804502|PMID:30833958|PMID:30925164|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31118792|PMID:31159747|PMID:31275557|PMID:31341520|PMID:31371347|PMID:31465090|PMID:31512090|PMID:31666926|PMID:31742824|PMID:31803232|PMID:31843900|PMID:31871109|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32720237|PMID:32726901|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32885271|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:32984025|PMID:33118316|PMID:33309985|PMID:33471991|PMID:33479248|PMID:33498765|PMID:33552952|PMID:33606809|PMID:33621668|PMID:33646313|PMID:33692861|PMID:33933153|PMID:34034685|PMID:34102105|PMID:34196900|PMID:34250417|PMID:34359559|PMID:34754157|PMID:34906988|PMID:35264596|PMID:35402282|PMID:35595798|PMID:35768576|PMID:35957908|PMID:36187937|PMID:36988593|PMID:9425226|PMID:9536098 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736238 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11807980|PMID:12832489|PMID:14550946|PMID:14578343|PMID:15040442|PMID:15342711|PMID:15782130|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16651405|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17576681|PMID:17848578|PMID:17972171|PMID:18089818|PMID:18480049|PMID:18481171|PMID:18842000|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20030863|PMID:20077502|PMID:20379136|PMID:20842729|PMID:21344236|PMID:21393566|PMID:22006311|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24123366|PMID:24454733|PMID:24463508|PMID:25058500|PMID:25085752|PMID:25186627|PMID:25288723|PMID:25318351|PMID:25326637|PMID:25330149|PMID:25428789|PMID:25452441|PMID:25503501|PMID:25634209|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26534844|PMID:26546047|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26720728|PMID:26738429|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26898890|PMID:26976419|PMID:26979391|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27621404|PMID:27720647|PMID:27742771|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28030839|PMID:28050010|PMID:28051113|PMID:28135145|PMID:28174632|PMID:28202063|PMID:28281021|PMID:28301456|PMID:28486781|PMID:28492532|PMID:28640387|PMID:28709830|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28821472|PMID:28828701|PMID:28873162|PMID:28888541|PMID:28912018|PMID:28976962|PMID:29025590|PMID:29263802|PMID:29292755|PMID:29367421|PMID:29368341|PMID:29478780|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29700634|PMID:29752822|PMID:29758562|PMID:29769598|PMID:29785153|PMID:29790872|PMID:29858377|PMID:29868112|PMID:29905759|PMID:29915797|PMID:29922827|PMID:29978187|PMID:30067863|PMID:30093976|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30541756|PMID:30613976|PMID:30676620|PMID:30680046|PMID:30781715|PMID:30804502|PMID:30833958|PMID:30925164|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31118792|PMID:31159747|PMID:31275557|PMID:31341520|PMID:31371347|PMID:31465090|PMID:31512090|PMID:31666926|PMID:31742824|PMID:31803232|PMID:31843900|PMID:31871109|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32720237|PMID:32726901|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32885271|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:32984025|PMID:33118316|PMID:33309985|PMID:33471991|PMID:33479248|PMID:33498765|PMID:33552952|PMID:33606809|PMID:33621668|PMID:33646313|PMID:33692861|PMID:33933153|PMID:34034685|PMID:34102105|PMID:34196900|PMID:34250417|PMID:34359559|PMID:34754157|PMID:34906988|PMID:35264596|PMID:35402282|PMID:35595798|PMID:35768576|PMID:35957908|PMID:36187937|PMID:36988593|PMID:37149759|PMID:9425226|PMID:9536098 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736238 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11807980|PMID:12832489|PMID:14550946|PMID:14578343|PMID:15040442|PMID:15342711|PMID:15782130|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16651405|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17576681|PMID:17848578|PMID:17972171|PMID:18089818|PMID:18480049|PMID:18481171|PMID:18842000|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20030863|PMID:20077502|PMID:20379136|PMID:20842729|PMID:21344236|PMID:21393566|PMID:22006311|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24123366|PMID:24454733|PMID:24463508|PMID:25058500|PMID:25085752|PMID:25186627|PMID:25288723|PMID:25318351|PMID:25330149|PMID:25428789|PMID:25452441|PMID:25503501|PMID:25634209|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26534844|PMID:26546047|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26720728|PMID:26738429|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26898890|PMID:26976419|PMID:26979391|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27621404|PMID:27720647|PMID:27742771|PMID:27878467|PMID:27913932|PMID:27978560|PMID:27997549|PMID:28008555|PMID:28030839|PMID:28050010|PMID:28051113|PMID:28135145|PMID:28174632|PMID:28202063|PMID:28281021|PMID:28301456|PMID:28486781|PMID:28492532|PMID:28569743|PMID:28640387|PMID:28709830|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28821472|PMID:28828701|PMID:28873162|PMID:28888541|PMID:28912018|PMID:28976962|PMID:29025590|PMID:29263802|PMID:29292755|PMID:29367421|PMID:29368341|PMID:29478780|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29700634|PMID:29752822|PMID:29758562|PMID:29769598|PMID:29785153|PMID:29790872|PMID:29868112|PMID:29905759|PMID:29915797|PMID:29922827|PMID:29978187|PMID:30067863|PMID:30093976|PMID:30322717|PMID:30374176|PMID:30422164|PMID:30441849|PMID:30541756|PMID:30613976|PMID:30676620|PMID:30680046|PMID:30781715|PMID:30804502|PMID:30833958|PMID:30925164|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31118792|PMID:31159747|PMID:31275557|PMID:31341520|PMID:31371347|PMID:31465090|PMID:31512090|PMID:31666926|PMID:31742824|PMID:31803232|PMID:31843900|PMID:31871109|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32720237|PMID:32726901|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32885271|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:32984025|PMID:33118316|PMID:33309985|PMID:33471991|PMID:33479248|PMID:33498765|PMID:33552952|PMID:33574475|PMID:33606809|PMID:33621668|PMID:33646313|PMID:33692861|PMID:33809641|PMID:33933153|PMID:34034685|PMID:34102105|PMID:34153142|PMID:34196900|PMID:34250417|PMID:34359559|PMID:34371384|PMID:34646395|PMID:34754157|PMID:34906988|PMID:35264596|PMID:35402282|PMID:35495172|PMID:35595798|PMID:35734982|PMID:35768576|PMID:35957908|PMID:36187937|PMID:36243179|PMID:36988593|PMID:37149759|PMID:37262986|PMID:37337119|PMID:9425226|PMID:9536098 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736238 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11807980|PMID:12832489|PMID:14550946|PMID:14578343|PMID:15040442|PMID:15342711|PMID:15782130|PMID:1584056|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16651405|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17576681|PMID:17848578|PMID:17972171|PMID:18089818|PMID:18480049|PMID:18481171|PMID:18842000|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20030863|PMID:20077502|PMID:20379136|PMID:20842729|PMID:21344236|PMID:21393566|PMID:22006311|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24123366|PMID:24454733|PMID:24463508|PMID:25058500|PMID:25085752|PMID:251316|PMID:25186627|PMID:25288723|PMID:25318351|PMID:25330149|PMID:25428789|PMID:25452441|PMID:25503501|PMID:25634209|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26534844|PMID:26546047|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26720728|PMID:26738429|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26898890|PMID:26976419|PMID:26979391|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27621404|PMID:27720647|PMID:27742771|PMID:27854218|PMID:27878467|PMID:27913932|PMID:27978560|PMID:27997549|PMID:28008555|PMID:28030839|PMID:28050010|PMID:28051113|PMID:28135145|PMID:28174632|PMID:28202063|PMID:28281021|PMID:28301456|PMID:28486781|PMID:28492532|PMID:28569743|PMID:28640387|PMID:28709830|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28821472|PMID:28828701|PMID:28873162|PMID:28888541|PMID:28912018|PMID:28976962|PMID:29025590|PMID:29263802|PMID:29292755|PMID:29338689|PMID:2936742|PMID:29367421|PMID:29368341|PMID:29478780|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29700634|PMID:29752822|PMID:29758562|PMID:29769598|PMID:29785153|PMID:29790872|PMID:29868112|PMID:29905759|PMID:29915797|PMID:29922827|PMID:29978187|PMID:29982661|PMID:30067863|PMID:30093976|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30422164|PMID:30441849|PMID:30541756|PMID:30613976|PMID:30676620|PMID:30680046|PMID:30781715|PMID:30804502|PMID:30833958|PMID:30925164|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31118792|PMID:31159747|PMID:31275557|PMID:31341520|PMID:31371347|PMID:31465090|PMID:31512090|PMID:31666926|PMID:31742824|PMID:31803232|PMID:31843900|PMID:31871109|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32720237|PMID:32726901|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32885271|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33118316|PMID:33309985|PMID:33452952|PMID:33471991|PMID:33479248|PMID:33498765|PMID:33552952|PMID:33574475|PMID:33598691|PMID:33606809|PMID:33606978|PMID:33621668|PMID:33646313|PMID:33692861|PMID:33804961|PMID:33809641|PMID:33933153|PMID:34034685|PMID:34102105|PMID:34153142|PMID:34196900|PMID:34250417|PMID:34326862|PMID:34359559|PMID:34371384|PMID:34646395|PMID:34680878|PMID:34754157|PMID:34906988|PMID:35264596|PMID:35273153|PMID:35402282|PMID:35495172|PMID:35595798|PMID:35734982|PMID:35768576|PMID:35957908|PMID:35980532|PMID:36187937|PMID:36243179|PMID:36315513|PMID:36672847|PMID:36980780|PMID:36988593|PMID:37149759|PMID:37239058|PMID:37262986|PMID:37337119|PMID:37563628|PMID:9425226|PMID:9536098 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736238 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11807980|PMID:12832489|PMID:14550946|PMID:14578343|PMID:15040442|PMID:15342711|PMID:15782130|PMID:1584056|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16651405|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17576681|PMID:17848578|PMID:17972171|PMID:18089818|PMID:18480049|PMID:18481171|PMID:18842000|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20030863|PMID:20077502|PMID:20379136|PMID:20842729|PMID:21344236|PMID:21393566|PMID:22006311|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24123366|PMID:24454733|PMID:24463508|PMID:25058500|PMID:25085752|PMID:251316|PMID:25186627|PMID:25288723|PMID:25318351|PMID:25330149|PMID:25428789|PMID:25452441|PMID:25503501|PMID:25634209|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26534844|PMID:26546047|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26720728|PMID:26738429|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26898890|PMID:26976419|PMID:26979391|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27621404|PMID:27720647|PMID:27742771|PMID:27878467|PMID:27913932|PMID:27978560|PMID:27997549|PMID:28008555|PMID:28030839|PMID:28050010|PMID:28051113|PMID:28135145|PMID:28174632|PMID:28202063|PMID:28281021|PMID:28301456|PMID:28486781|PMID:28492532|PMID:28569743|PMID:28640387|PMID:28709830|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28821472|PMID:28828701|PMID:28873162|PMID:28888541|PMID:28912018|PMID:28976962|PMID:29025590|PMID:29263802|PMID:29292755|PMID:29338689|PMID:2936742|PMID:29367421|PMID:29368341|PMID:29478780|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29700634|PMID:29752822|PMID:29758562|PMID:29769598|PMID:29785153|PMID:29790872|PMID:29868112|PMID:29905759|PMID:29915797|PMID:29922827|PMID:29978187|PMID:29982661|PMID:30067863|PMID:30093976|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30422164|PMID:30441849|PMID:30541756|PMID:30584090|PMID:30613976|PMID:30676620|PMID:30680046|PMID:30781715|PMID:30804502|PMID:30833958|PMID:30925164|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31118792|PMID:31159747|PMID:31275557|PMID:31341520|PMID:31371347|PMID:31465090|PMID:31512090|PMID:31666926|PMID:31742824|PMID:31803232|PMID:31843900|PMID:31871109|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32720237|PMID:32726901|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32885271|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33118316|PMID:33309985|PMID:33452952|PMID:33471991|PMID:33479248|PMID:33498765|PMID:33552952|PMID:33574475|PMID:33598691|PMID:33606809|PMID:33606978|PMID:33621668|PMID:33646313|PMID:33692861|PMID:33804961|PMID:33809641|PMID:33933153|PMID:34034685|PMID:34102105|PMID:34153142|PMID:34196900|PMID:34250417|PMID:34326862|PMID:34359559|PMID:34371384|PMID:34646395|PMID:34680878|PMID:34754157|PMID:34906988|PMID:35079693|PMID:35264596|PMID:35273153|PMID:35402282|PMID:35495172|PMID:35595798|PMID:35734982|PMID:35768576|PMID:35957908|PMID:35980532|PMID:36187937|PMID:36243179|PMID:36315513|PMID:36672847|PMID:36980780|PMID:36988593|PMID:37149759|PMID:37239058|PMID:37262986|PMID:37337119|PMID:37563628|PMID:9425226|PMID:9536098 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736238 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11807980|PMID:12832489|PMID:14550946|PMID:14578343|PMID:15040442|PMID:15342711|PMID:15782130|PMID:1584056|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16651405|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17576681|PMID:17848578|PMID:17972171|PMID:18089818|PMID:18480049|PMID:18481171|PMID:18842000|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20030863|PMID:20077502|PMID:20379136|PMID:20842729|PMID:21344236|PMID:21393566|PMID:22006311|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24123366|PMID:24454733|PMID:24463508|PMID:25058500|PMID:25085752|PMID:251316|PMID:25186627|PMID:25288723|PMID:25318351|PMID:25326637|PMID:25330149|PMID:25428789|PMID:25452441|PMID:25503501|PMID:25634209|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26534844|PMID:26546047|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26720728|PMID:26738429|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26898890|PMID:26976419|PMID:26979391|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27621404|PMID:27720647|PMID:27742771|PMID:27878467|PMID:27913932|PMID:27978560|PMID:27997549|PMID:28008555|PMID:28030839|PMID:28050010|PMID:28051113|PMID:28135145|PMID:28174632|PMID:28202063|PMID:28281021|PMID:28301456|PMID:28486781|PMID:28492532|PMID:28569743|PMID:28640387|PMID:28709830|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28821472|PMID:28828701|PMID:28873162|PMID:28888541|PMID:28912018|PMID:28976962|PMID:29025590|PMID:29263802|PMID:29292755|PMID:29338689|PMID:2936742|PMID:29367421|PMID:29368341|PMID:29478780|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29700634|PMID:29752822|PMID:29758562|PMID:29769598|PMID:29785153|PMID:29790872|PMID:29868112|PMID:29905759|PMID:29915797|PMID:29922827|PMID:29978187|PMID:29982661|PMID:30067863|PMID:30093976|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30422164|PMID:30441849|PMID:30541756|PMID:30584090|PMID:30613976|PMID:30676620|PMID:30680046|PMID:30781715|PMID:30804502|PMID:30833958|PMID:30925164|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31118792|PMID:31159747|PMID:31275557|PMID:31341520|PMID:31371347|PMID:31465090|PMID:31512090|PMID:31666926|PMID:31742824|PMID:31803232|PMID:31843900|PMID:31871109|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32720237|PMID:32726901|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32885271|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33118316|PMID:33309985|PMID:33452952|PMID:33471991|PMID:33479248|PMID:33498765|PMID:33552952|PMID:33574475|PMID:33598691|PMID:33606809|PMID:33606978|PMID:33621668|PMID:33646313|PMID:33692861|PMID:33804961|PMID:33809641|PMID:33933153|PMID:34034685|PMID:34102105|PMID:34153142|PMID:34196900|PMID:34250417|PMID:34326862|PMID:34359559|PMID:34371384|PMID:34646395|PMID:34680878|PMID:34754157|PMID:34906988|PMID:35079693|PMID:35264596|PMID:35273153|PMID:35402282|PMID:35495172|PMID:35595798|PMID:35734982|PMID:35768576|PMID:35957908|PMID:35980532|PMID:36187937|PMID:36243179|PMID:36315513|PMID:36672847|PMID:36980780|PMID:36988593|PMID:37149759|PMID:37239058|PMID:37262986|PMID:37337119|PMID:37563628|PMID:9425226|PMID:9536098 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736238 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11807980|PMID:12832489|PMID:14550946|PMID:14578343|PMID:15040442|PMID:15342711|PMID:15782130|PMID:1584056|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16651405|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17576681|PMID:17848578|PMID:17972171|PMID:18089818|PMID:18480049|PMID:18481171|PMID:18842000|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20030863|PMID:20077502|PMID:20379136|PMID:20842729|PMID:21344236|PMID:21393566|PMID:22006311|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24123366|PMID:24454733|PMID:24463508|PMID:25058500|PMID:25085752|PMID:251316|PMID:25186627|PMID:25288723|PMID:25318351|PMID:25330149|PMID:25428789|PMID:25452441|PMID:25503501|PMID:25634209|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26534844|PMID:26546047|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26720728|PMID:26738429|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26898890|PMID:26976419|PMID:26979391|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27621404|PMID:27720647|PMID:27742771|PMID:27878467|PMID:27913932|PMID:27978560|PMID:27997549|PMID:28008555|PMID:28030839|PMID:28050010|PMID:28051113|PMID:28135145|PMID:28174632|PMID:28202063|PMID:28281021|PMID:28301456|PMID:28486781|PMID:28492532|PMID:28569743|PMID:28640387|PMID:28709830|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28821472|PMID:28828701|PMID:28873162|PMID:28888541|PMID:28912018|PMID:28976962|PMID:29025590|PMID:29263802|PMID:29292755|PMID:29338689|PMID:2936742|PMID:29367421|PMID:29368341|PMID:29478780|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29700634|PMID:29752822|PMID:29758562|PMID:29769598|PMID:29785153|PMID:29790872|PMID:29868112|PMID:29905759|PMID:29915797|PMID:29922827|PMID:29978187|PMID:29982661|PMID:30067863|PMID:30093976|PMID:30130155|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30422164|PMID:30441849|PMID:30541756|PMID:30584090|PMID:30613976|PMID:30676620|PMID:30680046|PMID:30781715|PMID:30804502|PMID:30833958|PMID:30925164|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31118792|PMID:31159747|PMID:31275557|PMID:31341520|PMID:31371347|PMID:31465090|PMID:31512090|PMID:31666926|PMID:31742824|PMID:31794323|PMID:31803232|PMID:31819260|PMID:31843900|PMID:31871109|PMID:31887429|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32720237|PMID:32726901|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32885271|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33118316|PMID:33309985|PMID:33452952|PMID:33471991|PMID:33479248|PMID:33498765|PMID:33552952|PMID:33574475|PMID:33598691|PMID:33606809|PMID:33606978|PMID:33621668|PMID:33646313|PMID:33692861|PMID:33804961|PMID:33809641|PMID:33933153|PMID:34034685|PMID:34102105|PMID:34153142|PMID:34196900|PMID:34250417|PMID:34326862|PMID:34359559|PMID:34371384|PMID:34646395|PMID:34680878|PMID:34754157|PMID:34887416|PMID:34906988|PMID:35079693|PMID:35264596|PMID:35273153|PMID:35402282|PMID:35495172|PMID:35534704|PMID:35595798|PMID:35734982|PMID:35768576|PMID:35833951|PMID:35884425|PMID:35957908|PMID:35980532|PMID:36187937|PMID:36243179|PMID:36315513|PMID:36672847|PMID:36833268|PMID:36896836|PMID:36922933|PMID:36980780|PMID:36988593|PMID:37149759|PMID:37239058|PMID:37262986|PMID:37337119|PMID:37563628|PMID:37936247|PMID:38136308|PMID:38153744|PMID:38308423|PMID:38509102|PMID:9425226|PMID:9536098 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736238 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11807980|PMID:12832489|PMID:14550946|PMID:14578343|PMID:15040442|PMID:15342711|PMID:15782130|PMID:1584056|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16651405|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17576681|PMID:17848578|PMID:17972171|PMID:18089818|PMID:18480049|PMID:18481171|PMID:18842000|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20030863|PMID:20077502|PMID:20379136|PMID:20842729|PMID:21344236|PMID:21393566|PMID:22006311|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24123366|PMID:24454733|PMID:24463508|PMID:25058500|PMID:25085752|PMID:251316|PMID:25186627|PMID:25288723|PMID:25318351|PMID:25330149|PMID:25428789|PMID:25452441|PMID:25503501|PMID:25634209|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26534844|PMID:26546047|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26720728|PMID:26738429|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26898890|PMID:26976419|PMID:26979391|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27621404|PMID:27720647|PMID:27742771|PMID:27878467|PMID:27913932|PMID:27978560|PMID:27997549|PMID:28008555|PMID:28030839|PMID:28050010|PMID:28051113|PMID:28135145|PMID:28174632|PMID:28202063|PMID:28281021|PMID:28301456|PMID:28486781|PMID:28492532|PMID:28569743|PMID:28640387|PMID:28709830|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28821472|PMID:28828701|PMID:28873162|PMID:28888541|PMID:28912018|PMID:28976962|PMID:29025590|PMID:29263802|PMID:29292755|PMID:29338689|PMID:2936742|PMID:29367421|PMID:29368341|PMID:29478780|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29700634|PMID:29752822|PMID:29758562|PMID:29769598|PMID:29785153|PMID:29790872|PMID:29868112|PMID:29905759|PMID:29915797|PMID:29922827|PMID:29978187|PMID:29982661|PMID:30067863|PMID:30093976|PMID:30130155|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30422164|PMID:30441849|PMID:30541756|PMID:30584090|PMID:30613976|PMID:30676620|PMID:30680046|PMID:30781715|PMID:30804502|PMID:30833958|PMID:30925164|PMID:30927264|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31118792|PMID:31159747|PMID:31275557|PMID:31341520|PMID:31371347|PMID:31465090|PMID:31512090|PMID:31666926|PMID:31742824|PMID:31794323|PMID:31803232|PMID:31819260|PMID:31843900|PMID:31871109|PMID:31887429|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32720237|PMID:32726901|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32885271|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33118316|PMID:33309985|PMID:33452952|PMID:33471991|PMID:33479248|PMID:33498765|PMID:33552952|PMID:33574475|PMID:33598691|PMID:33606809|PMID:33606978|PMID:33621668|PMID:33646313|PMID:33692861|PMID:33804961|PMID:33809641|PMID:33933153|PMID:34034685|PMID:34102105|PMID:34153142|PMID:34196900|PMID:34250417|PMID:34326862|PMID:34359559|PMID:34371384|PMID:34646395|PMID:34680878|PMID:34754157|PMID:34887416|PMID:34906988|PMID:35079693|PMID:35264596|PMID:35273153|PMID:35402282|PMID:35495172|PMID:35534704|PMID:35595798|PMID:35734982|PMID:35768576|PMID:35833951|PMID:35884425|PMID:35957908|PMID:35980532|PMID:36113475|PMID:36187937|PMID:36243179|PMID:36315513|PMID:36551643|PMID:36672847|PMID:36833268|PMID:36896836|PMID:36922933|PMID:36980780|PMID:36988593|PMID:37149759|PMID:37239058|PMID:37262986|PMID:37337119|PMID:37563628|PMID:37936247|PMID:38136308|PMID:38153744|PMID:38308423|PMID:38509102|PMID:9425226|PMID:9536098 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:9007346 Cachexia ISO RGD:621072 D RGD:9068941 20200609 RGD associated with Carcinoma, Hepatocellular;protein:increased expression:skeletal muscle PMID:16685375|REF_RGD_ID:2315732 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:9008939 Breast Neoplasms ISO RGD:736238 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Breast neoplasm PMID:20077502|PMID:21344236|PMID:25085752|PMID:25741868|PMID:26315354|PMID:26467025|PMID:28492532|PMID:29566657|PMID:30925164 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:736238 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:11807980|PMID:11943588|PMID:12832489|PMID:14550946|PMID:14560035|PMID:14578343|PMID:15040442|PMID:15342711|PMID:15782130|PMID:1584056|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16651405|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17576681|PMID:17848578|PMID:17972171|PMID:18089818|PMID:18480049|PMID:18481171|PMID:18842000|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:19763152|PMID:20030863|PMID:20077502|PMID:20307669|PMID:20379136|PMID:20842729|PMID:21344236|PMID:21393566|PMID:22006311|PMID:22406018|PMID:22927429|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24123366|PMID:24302565|PMID:24454733|PMID:24463508|PMID:25058500|PMID:25085752|PMID:251316|PMID:25186627|PMID:25288723|PMID:25318351|PMID:25330149|PMID:25428789|PMID:25452441|PMID:25503501|PMID:25634209|PMID:25640679|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26022179|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26534844|PMID:26546047|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26720728|PMID:26738429|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26898890|PMID:26976419|PMID:26979391|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27621404|PMID:27720647|PMID:27742771|PMID:27878467|PMID:27913932|PMID:27978560|PMID:27997549|PMID:28008555|PMID:28030839|PMID:28050010|PMID:28051113|PMID:28135145|PMID:28174632|PMID:28202063|PMID:28281021|PMID:28301456|PMID:28486781|PMID:28492532|PMID:28569743|PMID:28640387|PMID:28709830|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28821472|PMID:28828701|PMID:28873162|PMID:28888541|PMID:28912018|PMID:28976962|PMID:29180619|PMID:29263802|PMID:29292755|PMID:29338689|PMID:2936742|PMID:29367421|PMID:29368341|PMID:29478780|PMID:29566657|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29700634|PMID:29752822|PMID:29758562|PMID:29769598|PMID:29785153|PMID:29790872|PMID:29868112|PMID:29905759|PMID:29915797|PMID:29922827|PMID:29978187|PMID:29982661|PMID:30067863|PMID:30093976|PMID:30130155|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30422164|PMID:30441849|PMID:30541756|PMID:30584090|PMID:30613976|PMID:30676620|PMID:30680046|PMID:30781715|PMID:30804502|PMID:30833958|PMID:30925164|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31118792|PMID:31159747|PMID:31275557|PMID:31341520|PMID:31371347|PMID:31465090|PMID:31512090|PMID:31666926|PMID:31742824|PMID:31794323|PMID:31803232|PMID:31819260|PMID:31843900|PMID:31871109|PMID:31887429|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32720237|PMID:32726901|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32885271|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33118316|PMID:33309985|PMID:33452952|PMID:33471991|PMID:33479248|PMID:33498765|PMID:33552952|PMID:33574475|PMID:33598691|PMID:33606809|PMID:33606978|PMID:33646313|PMID:33692861|PMID:33804961|PMID:33809641|PMID:33933153|PMID:34034685|PMID:34102105|PMID:34153142|PMID:34196900|PMID:34250417|PMID:34321665|PMID:34326862|PMID:34359559|PMID:34371384|PMID:34646395|PMID:34680878|PMID:34754157|PMID:34789768|PMID:34887416|PMID:34906988|PMID:35079693|PMID:35264596|PMID:35273153|PMID:35402282|PMID:35495172|PMID:35534704|PMID:35595798|PMID:35734982|PMID:35768576|PMID:35833951|PMID:35884425|PMID:35957908|PMID:35980532|PMID:36187937|PMID:36243179|PMID:36315513|PMID:36672847|PMID:36833268|PMID:36896836|PMID:36922933|PMID:36980780|PMID:36988593|PMID:37149759|PMID:37239058|PMID:37262986|PMID:37337119|PMID:37563628|PMID:37936247|PMID:38136308|PMID:38153744|PMID:38308423|PMID:38509102|PMID:9425226|PMID:9536098 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:736238 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:11807980|PMID:11943588|PMID:12832489|PMID:14550946|PMID:14560035|PMID:14578343|PMID:15040442|PMID:15342711|PMID:15782130|PMID:1584056|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16651405|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17576681|PMID:17848578|PMID:17972171|PMID:18089818|PMID:18480049|PMID:18481171|PMID:18842000|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:19763152|PMID:20030863|PMID:20077502|PMID:20307669|PMID:20379136|PMID:20842729|PMID:21344236|PMID:21393566|PMID:22006311|PMID:22406018|PMID:22927429|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24123366|PMID:24302565|PMID:24454733|PMID:24463508|PMID:25058500|PMID:25085752|PMID:251316|PMID:25186627|PMID:25288723|PMID:25318351|PMID:25330149|PMID:25428789|PMID:25452441|PMID:25503501|PMID:25634209|PMID:25640679|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26022179|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26534844|PMID:26546047|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26720728|PMID:26738429|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26898890|PMID:26976419|PMID:26979391|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27621404|PMID:27720647|PMID:27742771|PMID:27878467|PMID:27913932|PMID:27978560|PMID:27997549|PMID:28008555|PMID:28030839|PMID:28050010|PMID:28051113|PMID:28135145|PMID:28174632|PMID:28202063|PMID:28281021|PMID:28301456|PMID:28486781|PMID:28492532|PMID:28569743|PMID:28640387|PMID:28709830|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28821472|PMID:28828701|PMID:28873162|PMID:28888541|PMID:28912018|PMID:28976962|PMID:29180619|PMID:29263802|PMID:29292755|PMID:29338689|PMID:2936742|PMID:29367421|PMID:29368341|PMID:29478780|PMID:29566657|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29700634|PMID:29752822|PMID:29758562|PMID:29769598|PMID:29785153|PMID:29790872|PMID:29868112|PMID:29905759|PMID:29915797|PMID:29922827|PMID:29978187|PMID:29982661|PMID:30067863|PMID:30093976|PMID:30130155|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30422164|PMID:30441849|PMID:30541756|PMID:30584090|PMID:30613976|PMID:30676620|PMID:30680046|PMID:30781715|PMID:30804502|PMID:30833958|PMID:30925164|PMID:30927264|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31118792|PMID:31159747|PMID:31275557|PMID:31341520|PMID:31371347|PMID:31465090|PMID:31512090|PMID:31666926|PMID:31742824|PMID:31794323|PMID:31803232|PMID:31819260|PMID:31843900|PMID:31871109|PMID:31887429|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32720237|PMID:32726901|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32885271|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33118316|PMID:33309985|PMID:33452952|PMID:33471991|PMID:33479248|PMID:33498765|PMID:33552952|PMID:33574475|PMID:33598691|PMID:33606809|PMID:33606978|PMID:33646313|PMID:33692861|PMID:33804961|PMID:33809641|PMID:33933153|PMID:34034685|PMID:34102105|PMID:34153142|PMID:34196900|PMID:34250417|PMID:34321665|PMID:34326862|PMID:34359559|PMID:34371384|PMID:34646395|PMID:34680878|PMID:34754157|PMID:34789768|PMID:34887416|PMID:34906988|PMID:35079693|PMID:35264596|PMID:35273153|PMID:35402282|PMID:35495172|PMID:35534704|PMID:35595798|PMID:35734982|PMID:35768576|PMID:35833951|PMID:35884425|PMID:35957908|PMID:35980532|PMID:36113475|PMID:36187937|PMID:36243179|PMID:36315513|PMID:36551643|PMID:36672847|PMID:36833268|PMID:36896836|PMID:36922933|PMID:36980780|PMID:36988593|PMID:37149759|PMID:37239058|PMID:37262986|PMID:37337119|PMID:37563628|PMID:37936247|PMID:38136308|PMID:38153744|PMID:38308423|PMID:38509102|PMID:9425226 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:736238 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:9536098 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:936 brain disease ISO RGD:736238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy PMID:25741868 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:9538 multiple myeloma ISO RGD:736238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 8704622 Cenpk centromere protein K gene DOID:0080909 castration-resistant prostate carcinoma ISO RGD:1605966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29581250 8704622 Cenpk centromere protein K gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605966 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8704636 Shf Src homology 2 domain containing F gene DOID:0050712 AGAT deficiency ISO RGD:1602197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency PMID:28492532 8704636 Shf Src homology 2 domain containing F gene DOID:2717 Bloom syndrome ISO RGD:1602197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8704636 Shf Src homology 2 domain containing F gene DOID:9256 colorectal cancer ISO RGD:1602197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8704678 Llph LLP homolog, long-term synaptic facilitation factor gene DOID:0111402 mucopolysaccharidosis type IIID ISO RGD:1604260 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D PMID:20232353|PMID:28492532 8704693 Ssh3 slingshot protein phosphatase 3 gene DOID:0061060 immunodeficiency 90 ISO RGD:1318592 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8704693 Ssh3 slingshot protein phosphatase 3 gene DOID:1059 intellectual disability ISO RGD:1318592 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8704693 Ssh3 slingshot protein phosphatase 3 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1318592 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8704724 Tsnaxip1 translin associated factor X interacting protein 1 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1348366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8704724 Tsnaxip1 translin associated factor X interacting protein 1 gene DOID:10283 prostate cancer ISO RGD:1348366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8704724 Tsnaxip1 translin associated factor X interacting protein 1 gene DOID:9008870 Chromosome 16q12 Duplication Syndrome ISO RGD:1348366 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome PMID:25741868 8704748 Serpinb12 serpin family B member 12 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1343942 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 8704748 Serpinb12 serpin family B member 12 gene DOID:0080138 multiple congenital anomalies-hypotonia-seizures syndrome 1 ISO RGD:1343942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 PMID:10677500|PMID:18606301|PMID:22271396|PMID:24253414|PMID:27038415|PMID:28492532 8704777 Myo1b myosin IB gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8704777 Myo1b myosin IB gene DOID:9004657 Weight Gain ISO RGD:735320 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 8704777 Myo1b myosin IB gene DOID:9005369 Hepatomegaly ISO RGD:735320 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 8704777 Myo1b myosin IB gene DOID:9256 colorectal cancer ISO RGD:735320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer 8704832 Bace1 beta-secretase 1 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1606566 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 8704832 Bace1 beta-secretase 1 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1606566 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 8704832 Bace1 beta-secretase 1 gene DOID:0070614 chromosome 11 partial duplication syndrome ISO RGD:1606566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8704832 Bace1 beta-secretase 1 gene DOID:0080690 RASopathy ISO RGD:1606566 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8704832 Bace1 beta-secretase 1 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1606566 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 8704832 Bace1 beta-secretase 1 gene DOID:0111123 nephronophthisis 15 ISO RGD:1606566 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 15 PMID:22863007|PMID:28125082|PMID:28492532|PMID:32367404|PMID:34132027|PMID:34499853 8704832 Bace1 beta-secretase 1 gene DOID:0111971 immunodeficiency 18 ISO RGD:1606566 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 8704832 Bace1 beta-secretase 1 gene DOID:0111972 immunodeficiency 19 ISO RGD:1606566 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 8704832 Bace1 beta-secretase 1 gene DOID:0111973 immunodeficiency 17 ISO RGD:1606566 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 8704832 Bace1 beta-secretase 1 gene DOID:1059 intellectual disability ISO RGD:1606566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8704832 Bace1 beta-secretase 1 gene DOID:10652 Alzheimer's disease ISO RGD:1606566 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16407166 8704832 Bace1 beta-secretase 1 gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:1606566 D RGD:9068941 20200609 RGD PMID:12824768|REF_RGD_ID:1358439 8704832 Bace1 beta-secretase 1 gene DOID:10652 Alzheimer's disease treatment ISO RGD:1332039 D RGD:9068941 20200609 RGD PMID:29038004|REF_RGD_ID:13782077 8704832 Bace1 beta-secretase 1 gene DOID:10652 Alzheimer's disease treatment ISO RGD:2191 D RGD:9068941 20200609 RGD PMID:28763060|REF_RGD_ID:13782083 8704832 Bace1 beta-secretase 1 gene DOID:1307 dementia treatment ISO RGD:2191 D RGD:9068941 20200609 RGD PMID:28683457|REF_RGD_ID:13782142 8704832 Bace1 beta-secretase 1 gene DOID:1574 alcohol use disorder ISO RGD:2191 D RGD:9068941 20250313 RGD protein:increased expression:cerebellum, hippocampus, striatum PMID:21345314|REF_RGD_ID:597830177 8704832 Bace1 beta-secretase 1 gene DOID:224 transient cerebral ischemia ISO RGD:2191 D RGD:9068941 20200609 RGD protein:increased activity,increased expression:brain cortex PMID:15120577|REF_RGD_ID:13782170 8704832 Bace1 beta-secretase 1 gene DOID:2491 sensory peripheral neuropathy ISO RGD:2191 D RGD:9068941 20200609 RGD mRNA:decreased expression:dorsal root ganglion PMID:28012171|REF_RGD_ID:13782150 8704832 Bace1 beta-secretase 1 gene DOID:5419 schizophrenia ISO RGD:1332039 D RGD:9068941 20220825 MouseDO OMIM:181500 8704832 Bace1 beta-secretase 1 gene DOID:9001585 Intraventricular Hemorrhage ISO RGD:2191 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:30028260|REF_RGD_ID:13782136 8704832 Bace1 beta-secretase 1 gene DOID:9002211 Hyperalgesia ISO RGD:2191 D RGD:9068941 20200609 RGD PMID:28012171|REF_RGD_ID:13782150 8704832 Bace1 beta-secretase 1 gene DOID:9002775 Cognitive Dysfunction ISO RGD:2191 D RGD:9068941 20200609 RGD associated with Sleep Deprivation PMID:28455102|REF_RGD_ID:13782059 8704832 Bace1 beta-secretase 1 gene DOID:9006358 Postoperative Cognitive Dysfunction treatment ISO RGD:2191 D RGD:9068941 20250313 RGD PMID:30221701|PMID:33574912|REF_RGD_ID:597830178|REF_RGD_ID:597931096 8704832 Bace1 beta-secretase 1 gene DOID:9007661 Dwarfism ISO RGD:1606566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8704832 Bace1 beta-secretase 1 gene DOID:9007970 Chronic Cerebral Hypoperfusion ISO RGD:2191 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:28683457|REF_RGD_ID:13782142 8704832 Bace1 beta-secretase 1 gene DOID:9007980 Sleep Deprivation ISO RGD:2191 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:28455102|REF_RGD_ID:13782059 8704832 Bace1 beta-secretase 1 gene DOID:9009105 HIV Encephalitis ISO RGD:1606566 D RGD:9068941 20200609 RGD PMID:29632166|REF_RGD_ID:13782045 8704858 Serpinb8 serpin family B member 8 gene DOID:0060283 peeling skin syndrome ISO RGD:1320387 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8704858 Serpinb8 serpin family B member 8 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1320387 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 8704858 Serpinb8 serpin family B member 8 gene DOID:0070524 peeling skin syndrome 5 ISO RGD:1320387 D RGD:7240710 20190315 OMIM 8704858 Serpinb8 serpin family B member 8 gene DOID:0070524 peeling skin syndrome 5 ISO RGD:1320387 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Peeling skin syndrome 5 | ClinVar Annotator: match by term: SERPINB8-related condition PMID:25741868|PMID:27476651|PMID:28492532 8704858 Serpinb8 serpin family B member 8 gene DOID:0080138 multiple congenital anomalies-hypotonia-seizures syndrome 1 ISO RGD:1320387 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 PMID:10677500|PMID:18606301|PMID:22271396|PMID:24253414|PMID:27038415|PMID:28492532 8704858 Serpinb8 serpin family B member 8 gene DOID:8893 psoriasis ISO RGD:1320387 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20953187 8704874 LOC102028179 olfactory receptor 52A1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1342762 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 8704877 LOC102028532 cytochrome b561 gene DOID:9009252 Orthostatic Hypotension 2 ISO RGD:1322199 D RGD:7240710 20190315 OMIM 8704877 LOC102028532 cytochrome b561 gene DOID:9009252 Orthostatic Hypotension 2 ISO RGD:1322199 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Orthostatic hypotension 2 PMID:29343526 8704975 Raph1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 gene DOID:0080600 COVID-19 ISO RGD:1318125 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8704975 Raph1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1318125 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 8704975 Raph1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:1318125 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 8704975 Raph1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 gene DOID:10283 prostate cancer ISO RGD:1318125 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8704975 Raph1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 gene DOID:14557 primary pulmonary hypertension ISO RGD:1318125 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 8704975 Raph1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1318125 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 8704975 Raph1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318125 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8704975 Raph1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:1318125 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 8704996 Tmem108 transmembrane protein 108 gene DOID:12712 nephronophthisis ISO RGD:1604309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:18371931|PMID:23559409|PMID:28492532 8704996 Tmem108 transmembrane protein 108 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1604309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 8704996 Tmem108 transmembrane protein 108 gene DOID:9270 alkaptonuria ISO RGD:1604309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 8705018 Fscn2 fascin actin-bundling protein 2, retinal gene DOID:0110406 retinitis pigmentosa 30 ISO RGD:1319003 D RGD:7240710 20180130 OMIM 8705018 Fscn2 fascin actin-bundling protein 2, retinal gene DOID:0110406 retinitis pigmentosa 30 ISO RGD:1319003 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: FSCN2-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 30 PMID:11527955|PMID:14609921|PMID:15994872|PMID:16280978|PMID:16799052|PMID:17251446|PMID:17576681|PMID:18450588|PMID:25741868|PMID:28492532|PMID:34996991|PMID:9536098 8705018 Fscn2 fascin actin-bundling protein 2, retinal gene DOID:10584 retinitis pigmentosa ISO RGD:1319003 D RGD:9068941 20200609 RGD PMID:11527955|REF_RGD_ID:1598962 8705018 Fscn2 fascin actin-bundling protein 2, retinal gene DOID:14791 Leber congenital amaurosis ISO RGD:1319003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:11527955|PMID:14609921|PMID:15994872|PMID:16280978|PMID:16799052|PMID:17251446|PMID:18450588|PMID:28492532 8705018 Fscn2 fascin actin-bundling protein 2, retinal gene DOID:2742 auditory system disease ISO RGD:1319004 D RGD:9068941 20220825 MouseDO 8705018 Fscn2 fascin actin-bundling protein 2, retinal gene DOID:4448 macular degeneration ISO RGD:1319003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular degeneration PMID:11527955|PMID:14609921|PMID:15994872|PMID:16280978|PMID:16799052|PMID:17251446|PMID:18450588|PMID:28492532 8705018 Fscn2 fascin actin-bundling protein 2, retinal gene DOID:8466 retinal degeneration ISO RGD:1319004 D RGD:9068941 20220825 MouseDO 8705018 Fscn2 fascin actin-bundling protein 2, retinal gene DOID:8501 fundus dystrophy ISO RGD:1319003 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11527955|PMID:14609921|PMID:15994872|PMID:16280978|PMID:16799052|PMID:17251446|PMID:18450588|PMID:24618324|PMID:25741868|PMID:28492532|PMID:28512305|PMID:33946315 8705018 Fscn2 fascin actin-bundling protein 2, retinal gene DOID:9849 Meniere's disease ISO RGD:1319003 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Meniere disease PMID:28492532 8705029 Tektip1 tektin bundle interacting protein 1 gene DOID:0080690 RASopathy ISO RGD:2301120 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: RASopathy PMID:23379592|PMID:27257017|PMID:27751966|PMID:28492532 8705029 Tektip1 tektin bundle interacting protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2301120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8705041 Tomm5 translocase of outer mitochondrial membrane 5 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ISO RGD:1347873 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 8705041 Tomm5 translocase of outer mitochondrial membrane 5 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1347873 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 8705041 Tomm5 translocase of outer mitochondrial membrane 5 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1347873 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 8705041 Tomm5 translocase of outer mitochondrial membrane 5 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1347873 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8705041 Tomm5 translocase of outer mitochondrial membrane 5 gene DOID:9870 galactosemia ISO RGD:1347873 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 8705053 Prlh prolactin releasing hormone gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1352450 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8705053 Prlh prolactin releasing hormone gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1352450 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8705053 Prlh prolactin releasing hormone gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1352450 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 8705053 Prlh prolactin releasing hormone gene DOID:1059 intellectual disability ISO RGD:1352450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8705053 Prlh prolactin releasing hormone gene DOID:9001550 Bethlem Myopathy 1A ISO RGD:1352450 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1A PMID:26004199|PMID:28492532 8705053 Prlh prolactin releasing hormone gene DOID:9970 obesity ISO RGD:1617091 D RGD:9068941 20220825 MouseDO OMIM:601665 8705053 Prlh prolactin releasing hormone gene DOID:9970 obesity ISO RGD:628634 D RGD:9068941 20200609 RGD PMID:15854142|REF_RGD_ID:1641829 8705067 Rab10 RAB10, member RAS oncogene family gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:735722 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome PMID:28492532 8705067 Rab10 RAB10, member RAS oncogene family gene DOID:9002159 Liver Reperfusion Injury ameliorates ISO RGD:733173 D RGD:9068941 20230701 RGD PMID:34400126|REF_RGD_ID:329902072 8705077 Scara5 scavenger receptor class A member 5 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1606661 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 8705077 Scara5 scavenger receptor class A member 5 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1606661 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 8705090 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:0050451 Brugada syndrome ISO RGD:1350483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:25741868 8705090 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:0050700 cardiomyopathy ISO RGD:1350483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy 8705090 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:0060170 generalized epilepsy with febrile seizures plus ISO RGD:1350483 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus PMID:11254444|PMID:11263970|PMID:11866477|PMID:12011299|PMID:12486163|PMID:14504340|PMID:14690046|PMID:15710580|PMID:15857929|PMID:16205844|PMID:17020904|PMID:17928445|PMID:18941776|PMID:20437590|PMID:20628201|PMID:21994374|PMID:22292491|PMID:22425777|PMID:23527921|PMID:23584539|PMID:24065921|PMID:24567321|PMID:24605816|PMID:24623842|PMID:24747835|PMID:25421039|PMID:25741868|PMID:25827112|PMID:26467025|PMID:27216889|PMID:27277800|PMID:28331474|PMID:28492532|PMID:28717674|PMID:29056246|PMID:32466254|PMID:36288729|PMID:36291443|PMID:9461582|PMID:9539778|PMID:9697698|PMID:9894880 8705090 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:1350483 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy PMID:18464934|PMID:19710327|PMID:25741868|PMID:28218389|PMID:28492532|PMID:37845033 8705090 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:0080422 Dravet syndrome ISO RGD:1350483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:28492532 8705090 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:0080455 developmental and epileptic encephalopathy 52 ISO RGD:1350483 D RGD:7240710 20190315 OMIM 8705090 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:0080455 developmental and epileptic encephalopathy 52 ISO RGD:1350483 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 52 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 52 PMID:11254444|PMID:11263970|PMID:11866477|PMID:12011299|PMID:12486163|PMID:14504340|PMID:14690046|PMID:15710580|PMID:15857929|PMID:16199547|PMID:16205844|PMID:17020904|PMID:17604911|PMID:17629415|PMID:17928445|PMID:18464934|PMID:18941776|PMID:19522081|PMID:19710327|PMID:19808477|PMID:20437590|PMID:20628201|PMID:21703448|PMID:21994374|PMID:22155597|PMID:22155598|PMID:22284586|PMID:22292491|PMID:22425777|PMID:22840528|PMID:23148524|PMID:23182416|PMID:23414114|PMID:23465283|PMID:23527921|PMID:23584539|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24065921|PMID:24567321|PMID:24605816|PMID:24623842|PMID:24747835|PMID:24848745|PMID:25253298|PMID:25421039|PMID:25741868|PMID:25827112|PMID:26467025|PMID:26498160|PMID:27207958|PMID:27216889|PMID:27277800|PMID:27435932|PMID:27896052|PMID:28218389|PMID:28331474|PMID:28341588|PMID:28492532|PMID:28681755|PMID:28717674|PMID:28837624|PMID:29056246|PMID:29655203|PMID:29758173|PMID:30660056|PMID:31069529|PMID:31465153|PMID:31709768|PMID:31980526|PMID:32192759|PMID:32369273|PMID:32466254|PMID:32931854|PMID:33901312|PMID:36288729|PMID:36291443|PMID:9461582|PMID:9539778|PMID:9697698|PMID:9894880 8705090 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:0110087 asphyxiating thoracic dystrophy 3 ISO RGD:1350483 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Short-rib polydactyly syndrome type I PMID:19442771|PMID:19710327|PMID:23456818|PMID:25741868|PMID:28218389|PMID:28492532|PMID:37845033 8705090 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1350483 D RGD:7240710 20180130 OMIM 8705090 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1350483 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:11254444|PMID:11263970|PMID:11866477|PMID:12011299|PMID:12486163|PMID:14504340|PMID:14690046|PMID:15671291|PMID:15710580|PMID:15857929|PMID:16199547|PMID:16205844|PMID:17020904|PMID:17576681|PMID:17604911|PMID:17629415|PMID:17928445|PMID:18464934|PMID:18941776|PMID:19522081|PMID:19710327|PMID:19808477|PMID:20226894|PMID:20437590|PMID:20628201|PMID:20662403|PMID:21040232|PMID:21703448|PMID:21994374|PMID:22155597|PMID:22155598|PMID:22247482|PMID:22284586|PMID:22292491|PMID:22425777|PMID:22840528|PMID:22987075|PMID:23182416|PMID:23414114|PMID:23465283|PMID:23527921|PMID:23584539|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24065921|PMID:24529773|PMID:24567321|PMID:24605816|PMID:24623842|PMID:24662403|PMID:24747835|PMID:24848745|PMID:24981977|PMID:25253298|PMID:25421039|PMID:25668026|PMID:25741868|PMID:25827112|PMID:25998140|PMID:26042039|PMID:26129877|PMID:26467025|PMID:26498160|PMID:26704558|PMID:27207958|PMID:27216889|PMID:27277800|PMID:27435932|PMID:27707468|PMID:27896052|PMID:28074886|PMID:28218389|PMID:28331474|PMID:28341588|PMID:28449774|PMID:28488083|PMID:28492532|PMID:28600387|PMID:28681755|PMID:28717674|PMID:28726809|PMID:28837624|PMID:29056246|PMID:29358611|PMID:29572929|PMID:29655203|PMID:29758173|PMID:29915715|PMID:29924869|PMID:29992740|PMID:30182498|PMID:30660056|PMID:30847666|PMID:31069529|PMID:31465153|PMID:31709768|PMID:31729702|PMID:31737628|PMID:31980526|PMID:32192759|PMID:32369273|PMID:32466254|PMID:32593896|PMID:32613771|PMID:32651551|PMID:32931854|PMID:33049752|PMID:33552729|PMID:33901312|PMID:34034907|PMID:36011376|PMID:36288729|PMID:36291443|PMID:36413997|PMID:37845033|PMID:38174099|PMID:9461582|PMID:9536098|PMID:9539778|PMID:9697698|PMID:9894880 8705090 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1350483 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 8705090 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:0111302 generalized epilepsy with febrile seizures plus 1 ISO RGD:1350483 D RGD:7240710 20180130 OMIM 8705090 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:0111302 generalized epilepsy with febrile seizures plus 1 ISO RGD:1350483 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 1 PMID:11254444|PMID:11263970|PMID:11866477|PMID:12011299|PMID:12486163|PMID:14504340|PMID:14690046|PMID:15671291|PMID:15710580|PMID:15857929|PMID:16199547|PMID:16205844|PMID:17020904|PMID:17604911|PMID:17629415|PMID:17928445|PMID:18941776|PMID:19522081|PMID:19710327|PMID:19808477|PMID:20226894|PMID:20437590|PMID:20628201|PMID:20662403|PMID:21703448|PMID:21994374|PMID:22155597|PMID:22155598|PMID:22284586|PMID:22292491|PMID:22425777|PMID:22840528|PMID:23182416|PMID:23414114|PMID:23465283|PMID:23527921|PMID:23584539|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24065921|PMID:24529773|PMID:24567321|PMID:24605816|PMID:24623842|PMID:24662403|PMID:24747835|PMID:25253298|PMID:25421039|PMID:25668026|PMID:25741868|PMID:25827112|PMID:26042039|PMID:26467025|PMID:26498160|PMID:26704558|PMID:27216889|PMID:27277800|PMID:27435932|PMID:27896052|PMID:28218389|PMID:28331474|PMID:28341588|PMID:28492532|PMID:28681755|PMID:28717674|PMID:28837624|PMID:29056246|PMID:29655203|PMID:29758173|PMID:30660056|PMID:31069529|PMID:31465153|PMID:31709768|PMID:31980526|PMID:32192759|PMID:32369273|PMID:32466254|PMID:32593896|PMID:32651551|PMID:36011376|PMID:36288729|PMID:36291443|PMID:9461582|PMID:9539778|PMID:9697698|PMID:9894880 8705090 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:10273 heart conduction disease ISO RGD:1350483 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Conduction system disorder PMID:18464934|PMID:25741868 8705090 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:11832 visual epilepsy ISO RGD:1350483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure PMID:11254444|PMID:11263970|PMID:11866477|PMID:12011299|PMID:12486163|PMID:14504340|PMID:14690046|PMID:15671291|PMID:15710580|PMID:15857929|PMID:16205844|PMID:17020904|PMID:17928445|PMID:18941776|PMID:19522081|PMID:19710327|PMID:20226894|PMID:20437590|PMID:20628201|PMID:206282012|PMID:20662403|PMID:21994374|PMID:22292491|PMID:22425777|PMID:23182416|PMID:23527921|PMID:23584539|PMID:23861362|PMID:24065921|PMID:24529773|PMID:24567321|PMID:24605816|PMID:24623842|PMID:24662403|PMID:24747835|PMID:25253298|PMID:25326637|PMID:25668026|PMID:25741868|PMID:25827112|PMID:26042039|PMID:26467025|PMID:27207958|PMID:27216889|PMID:27277800|PMID:28331474|PMID:28492532|PMID:28837624|PMID:5421039|PMID:9461582|PMID:9539778|PMID:9697698|PMID:9894880 8705090 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:1825 childhood absence epilepsy ISO RGD:1350483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Childhood absence epilepsy PMID:25741868|PMID:28492532 8705090 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:1826 epilepsy ISO RGD:1350483 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:11254444|PMID:11263970|PMID:11866477|PMID:12011299|PMID:12486163|PMID:14504340|PMID:14690046|PMID:15671291|PMID:15710580|PMID:15857929|PMID:16205844|PMID:17020904|PMID:17928445|PMID:18941776|PMID:19522081|PMID:19710327|PMID:20226894|PMID:20437590|PMID:20628201|PMID:206282012|PMID:20662403|PMID:21994374|PMID:22292491|PMID:22425777|PMID:23182416|PMID:23527921|PMID:23584539|PMID:23861362|PMID:24065921|PMID:24529773|PMID:24567321|PMID:24605816|PMID:24623842|PMID:24662403|PMID:24747835|PMID:25253298|PMID:25668026|PMID:25741868|PMID:25827112|PMID:26042039|PMID:26467025|PMID:27207958|PMID:27216889|PMID:27277800|PMID:28331474|PMID:28492532|PMID:28717674|PMID:28837624|PMID:29056246|PMID:32466254|PMID:5421039|PMID:9461582|PMID:9539778|PMID:9697698|PMID:9894880 8705090 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:1826 epilepsy ISO RGD:1350483 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Seizure PMID:15671291|PMID:19522081|PMID:19710327|PMID:20226894|PMID:20662403|PMID:23861362|PMID:24529773|PMID:24662403|PMID:25253298|PMID:25668026|PMID:25741868|PMID:26042039|PMID:26467025|PMID:27207958|PMID:28492532 8705090 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:1826 epilepsy ISO RGD:1350483 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:15671291|PMID:19522081|PMID:19710327|PMID:20226894|PMID:20662403|PMID:23861362|PMID:24529773|PMID:24662403|PMID:25253298|PMID:25668026|PMID:25741868|PMID:26042039|PMID:26467025|PMID:27207958|PMID:28492532|PMID:28681755 8705090 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:1826 epilepsy ISO RGD:1350483 D RGD:8554872 20240514 ClinVar ClinVar Annotator: match by term: Seizure PMID:19710327|PMID:25741868|PMID:28492532|PMID:28681755 8705090 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:1827 generalized epilepsy ISO RGD:1350483 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868|PMID:28492532|PMID:31465153 8705090 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:2843 long QT syndrome ISO RGD:1350483 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:15671291|PMID:19522081|PMID:21994374|PMID:22155597|PMID:22155598|PMID:22284586|PMID:22840528|PMID:23414114|PMID:23465283|PMID:23861362|PMID:24033266|PMID:24529773|PMID:25253298|PMID:25668026|PMID:25741868|PMID:26042039|PMID:26467025|PMID:26498160|PMID:27435932|PMID:27896052|PMID:28341588|PMID:28492532|PMID:28837624|PMID:29758173 8705090 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:1350483 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:25741868|PMID:28492532|PMID:29358611|PMID:29758173 8705090 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1350483 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 8705090 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:9000184 Ventricular Fibrillation ISO RGD:1350483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation PMID:22987075|PMID:23861362|PMID:28492532|PMID:28600387 8705090 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:9000543 Death ISO RGD:1350483 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Death in early adulthood PMID:19808477|PMID:24033266|PMID:24055113|PMID:25741868|PMID:27435932|PMID:28492532 8705090 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:9002996 Familial Atrial Fibrillation 13 ISO RGD:1350483 D RGD:7240710 20180130 OMIM 8705090 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:9002996 Familial Atrial Fibrillation 13 ISO RGD:1350483 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 13 PMID:11254444|PMID:11263970|PMID:11866477|PMID:12011299|PMID:12486163|PMID:14504340|PMID:14690046|PMID:15710580|PMID:15857929|PMID:16205844|PMID:17020904|PMID:17629415|PMID:17928445|PMID:18464934|PMID:18941776|PMID:19710327|PMID:19808477|PMID:20437590|PMID:20628201|PMID:21703448|PMID:21994374|PMID:22155597|PMID:22155598|PMID:22247482|PMID:22284586|PMID:22292491|PMID:22425777|PMID:22840528|PMID:23182416|PMID:23414114|PMID:23465283|PMID:23527921|PMID:23584539|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24065921|PMID:24567321|PMID:24605816|PMID:24623842|PMID:24747835|PMID:25253298|PMID:25421039|PMID:25741868|PMID:25827112|PMID:26467025|PMID:26498160|PMID:27216889|PMID:27277800|PMID:27435932|PMID:27896052|PMID:28331474|PMID:28341588|PMID:28449774|PMID:28492532|PMID:28681755|PMID:28717674|PMID:28837624|PMID:29056246|PMID:29655203|PMID:29758173|PMID:31069529|PMID:31980526|PMID:32192759|PMID:32466254|PMID:36011376|PMID:36288729|PMID:36291443|PMID:9461582|PMID:9539778|PMID:9697698|PMID:9894880 8705090 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:9007 sudden infant death syndrome ISO RGD:1350483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22155597 8705090 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:9007956 Febrile Seizures ISO RGD:1350483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25362483 8705090 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:3631 D RGD:9068941 20200609 RGD mRNA:increased expression:heart ventricle PMID:22581745|REF_RGD_ID:6484255 8705109 Mrpl48 mitochondrial ribosomal protein L48 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1316849 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 8705109 Mrpl48 mitochondrial ribosomal protein L48 gene DOID:1059 intellectual disability ISO RGD:1316849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8705126 Abhd5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase gene DOID:0050729 Chanarin-Dorfman syndrome ISO RGD:1342875 D RGD:7240710 20180130 OMIM 8705126 Abhd5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase gene DOID:0050729 Chanarin-Dorfman syndrome ISO RGD:1342875 D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Neutral lipid storage myopathy | ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis PMID:11590543|PMID:14708602|PMID:15136565|PMID:16199547|PMID:18339307|PMID:18682927|PMID:20022472|PMID:20520629|PMID:22373837|PMID:25741868|PMID:27025581|PMID:28492532|PMID:29130490|PMID:31883530|PMID:3354610|PMID:6181472 8705126 Abhd5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase gene DOID:0050729 Chanarin-Dorfman syndrome ISO RGD:1342875 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: ABHD5-related condition | ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis PMID:11590543|PMID:14708602|PMID:15136565|PMID:16199547|PMID:18339307|PMID:18682927|PMID:20022472|PMID:20520629|PMID:22373837|PMID:25741868|PMID:27025581|PMID:28492532|PMID:29130490|PMID:31883530|PMID:3354610|PMID:545139|PMID:6181472|PMID:7362208 8705126 Abhd5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase gene DOID:0060656 autosomal recessive congenital ichthyosis 1 susceptibility ISO RGD:1342875 D RGD:9068941 20200609 RGD PMID:11590543|REF_RGD_ID:1598668 8705126 Abhd5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:1342875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532 8705126 Abhd5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase gene DOID:234 colon adenocarcinoma ISO RGD:1342875 D RGD:9068941 20220721 RGD human cells in mouse model PMID:30842415|REF_RGD_ID:153002829 8705126 Abhd5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase gene DOID:234 colon adenocarcinoma disease_progression ISO RGD:1342875 D RGD:9068941 20220721 RGD mRNA:decreased expression:colon (human) PMID:30842415|REF_RGD_ID:153002829 8705126 Abhd5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase gene DOID:630 genetic disease ISO RGD:1342875 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8705149 Rps6kl1 ribosomal protein S6 kinase like 1 gene DOID:1059 intellectual disability ISO RGD:1319861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 8705185 Pot1 protection of telomeres 1 gene DOID:0080014 chromosomal disease ISO RGD:1344340 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23502782 8705185 Pot1 protection of telomeres 1 gene DOID:0081304 high-grade astrocytoma with piloid features ISO RGD:1344340 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: High-grade astrocytoma with piloid features PMID:25741868|PMID:28492532|PMID:32155570 8705185 Pot1 protection of telomeres 1 gene DOID:10041 dysplastic nevus syndrome ISO RGD:1344340 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: B-K MOLE SYNDROME PMID:24686846|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30451293|PMID:30586141|PMID:34193977|PMID:36876055|PMID:37140166|PMID:37466057|PMID:38540414 8705185 Pot1 protection of telomeres 1 gene DOID:1037 lymphoid leukemia ISO RGD:1344340 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23502782|PMID:24292274 8705185 Pot1 protection of telomeres 1 gene DOID:10534 stomach cancer disease_progression ISO RGD:1344340 D RGD:9068941 20220218 RGD PMID:18425352|REF_RGD_ID:151356939 8705185 Pot1 protection of telomeres 1 gene DOID:12449 aplastic anemia ISO RGD:1344340 D RGD:8554872 20240521 ClinVar ClinVar Annotator: match by term: Inherited aplastic anemia PMID:25741868|PMID:28492532 8705185 Pot1 protection of telomeres 1 gene DOID:1324 lung cancer ISO RGD:1344340 D RGD:9068941 20220218 RGD DNA:SNP: : rs10244817 (human) PMID:19285750|REF_RGD_ID:151356947 8705185 Pot1 protection of telomeres 1 gene DOID:1324 lung cancer ISO RGD:1344340 D RGD:9068941 20220218 RGD DNA:SNP: :p.V326A (rs75932146) (human) PMID:32514122|REF_RGD_ID:151356948 8705185 Pot1 protection of telomeres 1 gene DOID:1324 lung cancer ISO RGD:1344340 D RGD:9068941 20220218 RGD DNA:SNP: :rs116895242 (human) PMID:27459707|REF_RGD_ID:151356949 8705185 Pot1 protection of telomeres 1 gene DOID:1909 melanoma ISO RGD:1344340 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:24686846|PMID:25741868|PMID:28492532|PMID:30451293|PMID:30586141|PMID:34193977|PMID:37140166 8705185 Pot1 protection of telomeres 1 gene DOID:1909 melanoma ISO RGD:1344340 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: MELANOMA, MALIGNANT PMID:24686846|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30451293|PMID:30586141|PMID:34193977|PMID:36876055|PMID:37140166|PMID:37466057|PMID:38540414 8705185 Pot1 protection of telomeres 1 gene DOID:1949 cholecystitis ISO RGD:1344340 D RGD:9068941 20220218 RGD mRNA:decreased expression:gall bladder PMID:28643740|REF_RGD_ID:151356941 8705185 Pot1 protection of telomeres 1 gene DOID:2394 ovarian cancer ISO RGD:1344340 D RGD:9068941 20220218 RGD DNA:SNP: :rs116895242 (human) PMID:27459707|REF_RGD_ID:151356949 8705185 Pot1 protection of telomeres 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1344340 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:25741868|PMID:28492532|PMID:30523342 8705185 Pot1 protection of telomeres 1 gene DOID:3068 glioblastoma ISO RGD:1344340 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Glioblastoma, somatic PMID:28492532 8705185 Pot1 protection of telomeres 1 gene DOID:3070 high grade glioma ISO RGD:1344340 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 2 | ClinVar Annotator: match by term: Glioma susceptibility 9 PMID:16199547|PMID:17576681|PMID:19461895|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27365461|PMID:27528712|PMID:27869160|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30556179|PMID:30586141|PMID:30975761|PMID:31937561|PMID:32033110|PMID:32155570|PMID:32191290|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33054084|PMID:33119245|PMID:33216348|PMID:33525650|PMID:33782098|PMID:33941849|PMID:34193977|PMID:35727838|PMID:36539277|PMID:36876055|PMID:37140166|PMID:38688277|PMID:9536098 8705185 Pot1 protection of telomeres 1 gene DOID:3070 high grade glioma ISO RGD:1344340 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 2 | ClinVar Annotator: match by term: Glioma susceptibility 3 | ClinVar Annotator: match by term: Glioma susceptibility 9 PMID:16199547|PMID:17576681|PMID:19461895|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27365461|PMID:27528712|PMID:27869160|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30556179|PMID:30586141|PMID:30975761|PMID:31937561|PMID:32033110|PMID:32155570|PMID:32191290|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33054084|PMID:33119245|PMID:33122293|PMID:33216348|PMID:33525650|PMID:33782098|PMID:33941849|PMID:34193977|PMID:35727838|PMID:36113475|PMID:36539277|PMID:36876055|PMID:37140166|PMID:38688277|PMID:9536098 8705185 Pot1 protection of telomeres 1 gene DOID:3070 high grade glioma ISO RGD:1344340 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 2 | ClinVar Annotator: match by term: Glioma susceptibility 3 | ClinVar Annotator: match by term: Glioma susceptibility 9 | ClinVar Annotator: match by term: IDH1-related condition PMID:16199547|PMID:17576681|PMID:19461895|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27365461|PMID:27528712|PMID:27869160|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30556179|PMID:30586141|PMID:30975761|PMID:31937561|PMID:32033110|PMID:32155570|PMID:32191290|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33054084|PMID:33119245|PMID:33122293|PMID:33216348|PMID:33525650|PMID:33782098|PMID:33941849|PMID:34193977|PMID:34769003|PMID:35456397|PMID:35727838|PMID:36113475|PMID:36539277|PMID:36876055|PMID:37140166|PMID:38688277|PMID:9536098 8705185 Pot1 protection of telomeres 1 gene DOID:3070 high grade glioma ISO RGD:1344340 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Ependymoma | ClinVar Annotator: match by term: Glioma susceptibility 2 | ClinVar Annotator: match by term: Glioma susceptibility 3 | ClinVar Annotator: match by term: Glioma susceptibility 9 | ClinVar Annotator: match by term: Malignant glioma PMID:16199547|PMID:17576681|PMID:19461895|PMID:19763152|PMID:20307669|PMID:22406018|PMID:22722201|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27365461|PMID:27528712|PMID:27869160|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30556179|PMID:30586141|PMID:30975761|PMID:31937561|PMID:32033110|PMID:32155570|PMID:32191290|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33054084|PMID:33119245|PMID:33122293|PMID:33216348|PMID:33525650|PMID:33782098|PMID:33941849|PMID:34193977|PMID:34482403|PMID:34769003|PMID:35456397|PMID:35727838|PMID:36113475|PMID:36467798|PMID:36539277|PMID:36876055|PMID:37140166|PMID:38254993|PMID:38540414|PMID:38688277|PMID:9536098 8705185 Pot1 protection of telomeres 1 gene DOID:3070 high grade glioma ISO RGD:1344340 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 2 | ClinVar Annotator: match by term: Glioma susceptibility 3 | ClinVar Annotator: match by term: Glioma susceptibility 9 PMID:16199547|PMID:17576681|PMID:19461895|PMID:19763152|PMID:20307669|PMID:22406018|PMID:22722201|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27365461|PMID:27528712|PMID:27869160|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30556179|PMID:30586141|PMID:30975761|PMID:31685617|PMID:31937561|PMID:32033110|PMID:32155570|PMID:32191290|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33054084|PMID:33119245|PMID:33122293|PMID:33216348|PMID:33525650|PMID:33782098|PMID:33941849|PMID:34193977|PMID:34482403|PMID:34769003|PMID:35456397|PMID:35727838|PMID:36113475|PMID:36467798|PMID:36539277|PMID:36876055|PMID:37140166|PMID:37466057|PMID:38254993|PMID:38540414|PMID:38688277|PMID:9536098 8705185 Pot1 protection of telomeres 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1344340 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8705185 Pot1 protection of telomeres 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1344340 D RGD:9068941 20220602 RGD associated with hepatitis B;DNA:SNP: :rs7784168(human) PMID:23907815|REF_RGD_ID:152975963 8705185 Pot1 protection of telomeres 1 gene DOID:6846 familial melanoma ISO RGD:1344340 D RGD:7240710 20231004 OMIM 8705185 Pot1 protection of telomeres 1 gene DOID:6846 familial melanoma ISO RGD:1344340 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27239034|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29693246|PMID:30451293|PMID:30523342|PMID:30975761|PMID:31919090|PMID:32155570|PMID:33119245|PMID:9536098 8705185 Pot1 protection of telomeres 1 gene DOID:6846 familial melanoma ISO RGD:1344340 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27329137|PMID:27528712|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29693246|PMID:30451293|PMID:30523342|PMID:30586141|PMID:30975761|PMID:31919090|PMID:32155570|PMID:32325837|PMID:32907878|PMID:33119245|PMID:33216348|PMID:9536098 8705185 Pot1 protection of telomeres 1 gene DOID:6846 familial melanoma ISO RGD:1344340 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29693246|PMID:30451293|PMID:30523342|PMID:30586141|PMID:30975761|PMID:31919090|PMID:32155570|PMID:32325837|PMID:32907878|PMID:33119245|PMID:33216348|PMID:34193977|PMID:9536098 8705185 Pot1 protection of telomeres 1 gene DOID:6846 familial melanoma ISO RGD:1344340 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29693246|PMID:30451293|PMID:30523342|PMID:30586141|PMID:30975761|PMID:31919090|PMID:31937561|PMID:32155570|PMID:32325837|PMID:32907878|PMID:32987645|PMID:33119245|PMID:33216348|PMID:34193977|PMID:9536098 8705185 Pot1 protection of telomeres 1 gene DOID:6846 familial melanoma ISO RGD:1344340 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30586141|PMID:30975761|PMID:31919090|PMID:31937561|PMID:32155570|PMID:32325837|PMID:32449991|PMID:32907878|PMID:32987645|PMID:33119245|PMID:33216348|PMID:34193977|PMID:35727838|PMID:9536098 8705185 Pot1 protection of telomeres 1 gene DOID:6846 familial melanoma ISO RGD:1344340 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30586141|PMID:30975761|PMID:31919090|PMID:31937561|PMID:32155570|PMID:32325837|PMID:32449991|PMID:32907878|PMID:32987645|PMID:33119245|PMID:33216348|PMID:33941849|PMID:34193977|PMID:35727838|PMID:9536098 8705185 Pot1 protection of telomeres 1 gene DOID:6846 familial melanoma ISO RGD:1344340 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30586141|PMID:30975761|PMID:31919090|PMID:31937561|PMID:32155570|PMID:32325837|PMID:32449991|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33119245|PMID:33216348|PMID:33941849|PMID:34193977|PMID:35727838|PMID:9536098 8705185 Pot1 protection of telomeres 1 gene DOID:6846 familial melanoma ISO RGD:1344340 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 6 PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30586141|PMID:30975761|PMID:31919090|PMID:31937561|PMID:32155570|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33119245|PMID:33216348|PMID:33941849|PMID:34193977|PMID:35727838|PMID:9536098 8705185 Pot1 protection of telomeres 1 gene DOID:6846 familial melanoma ISO RGD:1344340 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30586141|PMID:30975761|PMID:31919090|PMID:31937561|PMID:32155570|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33119245|PMID:33216348|PMID:33941849|PMID:34193977|PMID:35727838|PMID:36539277|PMID:9536098 8705185 Pot1 protection of telomeres 1 gene DOID:6846 familial melanoma ISO RGD:1344340 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30586141|PMID:30975761|PMID:31919090|PMID:31937561|PMID:32155570|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33119245|PMID:33216348|PMID:33941849|PMID:34193977|PMID:35727838|PMID:36539277|PMID:37140166|PMID:9536098 8705185 Pot1 protection of telomeres 1 gene DOID:6846 familial melanoma ISO RGD:1344340 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8 PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30586141|PMID:30975761|PMID:31919090|PMID:31937561|PMID:32155570|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33119245|PMID:33216348|PMID:33941849|PMID:34193977|PMID:35727838|PMID:36539277|PMID:36876055|PMID:37140166|PMID:9536098 8705185 Pot1 protection of telomeres 1 gene DOID:6846 familial melanoma ISO RGD:1344340 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27365461|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30556179|PMID:30586141|PMID:30975761|PMID:31919090|PMID:31937561|PMID:32033110|PMID:32155570|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33054084|PMID:33119245|PMID:33216348|PMID:33941849|PMID:34193977|PMID:35727838|PMID:36539277|PMID:36876055|PMID:37140166|PMID:9536098 8705185 Pot1 protection of telomeres 1 gene DOID:6846 familial melanoma ISO RGD:1344340 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27365461|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30556179|PMID:30586141|PMID:30975761|PMID:31919090|PMID:31937561|PMID:32033110|PMID:32155570|PMID:32191290|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33054084|PMID:33119245|PMID:33216348|PMID:33525650|PMID:33782098|PMID:33941849|PMID:34193977|PMID:35727838|PMID:36539277|PMID:36876055|PMID:37140166|PMID:9536098 8705185 Pot1 protection of telomeres 1 gene DOID:6846 familial melanoma ISO RGD:1344340 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:16199547|PMID:17576681|PMID:19461895|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27365461|PMID:27528712|PMID:27869160|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30556179|PMID:30586141|PMID:30975761|PMID:31919090|PMID:31937561|PMID:32033110|PMID:32155570|PMID:32191290|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33054084|PMID:33119245|PMID:33216348|PMID:33525650|PMID:33782098|PMID:33941849|PMID:34193977|PMID:35727838|PMID:36539277|PMID:36876055|PMID:37140166|PMID:9536098 8705185 Pot1 protection of telomeres 1 gene DOID:6846 familial melanoma ISO RGD:1344340 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8 PMID:16199547|PMID:17576681|PMID:19461895|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27365461|PMID:27528712|PMID:27869160|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30556179|PMID:30586141|PMID:30975761|PMID:31919090|PMID:31937561|PMID:32033110|PMID:32155570|PMID:32191290|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33054084|PMID:33119245|PMID:33216348|PMID:33525650|PMID:33782098|PMID:33941849|PMID:34193977|PMID:35727838|PMID:36539277|PMID:36876055|PMID:37140166|PMID:9536098 8705185 Pot1 protection of telomeres 1 gene DOID:6846 familial melanoma ISO RGD:1344340 D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Cutaneous malignant melanoma 9 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8 PMID:16199547|PMID:17576681|PMID:19461895|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27365461|PMID:27528712|PMID:27869160|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30556179|PMID:30586141|PMID:30975761|PMID:31937561|PMID:32033110|PMID:32155570|PMID:32191290|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33054084|PMID:33119245|PMID:33216348|PMID:33525650|PMID:33782098|PMID:33941849|PMID:34193977|PMID:35727838|PMID:36539277|PMID:36876055|PMID:37140166|PMID:9536098 8705185 Pot1 protection of telomeres 1 gene DOID:6846 familial melanoma ISO RGD:1344340 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 9 PMID:16199547|PMID:17576681|PMID:19461895|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27365461|PMID:27528712|PMID:27869160|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30556179|PMID:30586141|PMID:30975761|PMID:31937561|PMID:32033110|PMID:32155570|PMID:32191290|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33054084|PMID:33119245|PMID:33216348|PMID:33525650|PMID:33782098|PMID:33941849|PMID:34193977|PMID:35727838|PMID:36539277|PMID:36876055|PMID:37140166|PMID:38688277|PMID:9536098 8705185 Pot1 protection of telomeres 1 gene DOID:6846 familial melanoma ISO RGD:1344340 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:16199547|PMID:17576681|PMID:19461895|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27365461|PMID:27528712|PMID:27869160|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30556179|PMID:30586141|PMID:30975761|PMID:31937561|PMID:32033110|PMID:32155570|PMID:32191290|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33054084|PMID:33119245|PMID:33122293|PMID:33216348|PMID:33525650|PMID:33782098|PMID:33941849|PMID:34193977|PMID:35727838|PMID:36113475|PMID:36539277|PMID:36876055|PMID:37140166|PMID:38688277|PMID:9536098 8705185 Pot1 protection of telomeres 1 gene DOID:6846 familial melanoma ISO RGD:1344340 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8 PMID:16199547|PMID:17576681|PMID:19461895|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27365461|PMID:27528712|PMID:27869160|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30556179|PMID:30586141|PMID:30975761|PMID:31937561|PMID:32033110|PMID:32155570|PMID:32191290|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33054084|PMID:33119245|PMID:33122293|PMID:33216348|PMID:33525650|PMID:33782098|PMID:33941849|PMID:34193977|PMID:34769003|PMID:35456397|PMID:35727838|PMID:36113475|PMID:36539277|PMID:36876055|PMID:37140166|PMID:38688277|PMID:9536098 8705185 Pot1 protection of telomeres 1 gene DOID:6846 familial melanoma ISO RGD:1344340 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Cutaneous malignant melanoma 9 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:16199547|PMID:17576681|PMID:19461895|PMID:19763152|PMID:20307669|PMID:22406018|PMID:22722201|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27365461|PMID:27528712|PMID:27869160|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30556179|PMID:30586141|PMID:30975761|PMID:31937561|PMID:32033110|PMID:32155570|PMID:32191290|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33054084|PMID:33119245|PMID:33122293|PMID:33216348|PMID:33525650|PMID:33782098|PMID:33941849|PMID:34193977|PMID:34482403|PMID:34769003|PMID:35456397|PMID:35727838|PMID:36113475|PMID:36467798|PMID:36539277|PMID:36876055|PMID:37140166|PMID:38254993|PMID:38540414|PMID:38688277|PMID:9536098 8705185 Pot1 protection of telomeres 1 gene DOID:6846 familial melanoma ISO RGD:1344340 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Cutaneous malignant melanoma 9 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:16199547|PMID:17576681|PMID:19461895|PMID:19763152|PMID:20307669|PMID:22406018|PMID:22722201|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27365461|PMID:27528712|PMID:27869160|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30556179|PMID:30586141|PMID:30975761|PMID:31685617|PMID:31937561|PMID:32033110|PMID:32155570|PMID:32191290|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33054084|PMID:33119245|PMID:33122293|PMID:33216348|PMID:33525650|PMID:33782098|PMID:33941849|PMID:34193977|PMID:34482403|PMID:34769003|PMID:35456397|PMID:35727838|PMID:36113475|PMID:36467798|PMID:36539277|PMID:36876055|PMID:37140166|PMID:37466057|PMID:38254993|PMID:38540414|PMID:38688277|PMID:9536098 8705185 Pot1 protection of telomeres 1 gene DOID:8923 skin melanoma ISO RGD:1344340 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Malignant melanoma of skin PMID:24686846|PMID:25741868|PMID:28492532|PMID:30451293|PMID:30586141|PMID:34193977|PMID:37140166 8705185 Pot1 protection of telomeres 1 gene DOID:8923 skin melanoma ISO RGD:1344340 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY PMID:24686846|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30451293|PMID:30586141|PMID:34193977|PMID:36876055|PMID:37140166|PMID:37466057|PMID:38540414 8705185 Pot1 protection of telomeres 1 gene DOID:9000987 Cerebroretinal Microangiopathy with Calcifications and Cysts 3 ISO RGD:1344340 D RGD:7240710 20231004 OMIM 8705185 Pot1 protection of telomeres 1 gene DOID:9000987 Cerebroretinal Microangiopathy with Calcifications and Cysts 3 ISO RGD:1344340 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 3 PMID:17576681|PMID:24686846|PMID:25741868|PMID:26467025|PMID:27013236|PMID:28492532|PMID:28853721|PMID:34193977|PMID:36539277|PMID:36876055|PMID:9536098 8705185 Pot1 protection of telomeres 1 gene DOID:9001272 Hoyeraal Hreidarsson Syndrome ISO RGD:1344340 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Growth retardation prenatal with progressive pancytopenia and cerebellar hypoplasia PMID:25741868|PMID:28492532|PMID:29625052|PMID:32155570|PMID:36113475 8705185 Pot1 protection of telomeres 1 gene DOID:9004464 Skin Neoplasms ISO RGD:1344340 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24686849 8705185 Pot1 protection of telomeres 1 gene DOID:9004814 Chromosome Aberrations ISO RGD:1344340 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23502782 8705185 Pot1 protection of telomeres 1 gene DOID:9005799 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 8 ISO RGD:1344340 D RGD:7240710 20231004 OMIM 8705185 Pot1 protection of telomeres 1 gene DOID:9005799 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 8 ISO RGD:1344340 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8 PMID:17576681|PMID:24686846|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28853721|PMID:34193977|PMID:35420632|PMID:36539277|PMID:36876055|PMID:9536098 8705185 Pot1 protection of telomeres 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344340 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:17576681|PMID:19461895|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25741868|PMID:25877891|PMID:26365187|PMID:26467025|PMID:27329137|PMID:27528712|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28853721|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29693246|PMID:30451293|PMID:30523342|PMID:30586141|PMID:31919090|PMID:32155570|PMID:32907878|PMID:33216348|PMID:9536098 8705185 Pot1 protection of telomeres 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344340 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17576681|PMID:19461895|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25741868|PMID:25877891|PMID:26365187|PMID:26467025|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28853721|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29693246|PMID:30451293|PMID:30523342|PMID:30586141|PMID:31919090|PMID:32155570|PMID:32907878|PMID:33119245|PMID:33216348|PMID:34193977|PMID:9536098 8705185 Pot1 protection of telomeres 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344340 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25741868|PMID:25877891|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30586141|PMID:31919090|PMID:31937561|PMID:32155570|PMID:32325837|PMID:32449991|PMID:32907878|PMID:32987645|PMID:33119245|PMID:33216348|PMID:34193977|PMID:35727838|PMID:9536098 8705185 Pot1 protection of telomeres 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344340 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25741868|PMID:25877891|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30586141|PMID:31919090|PMID:31937561|PMID:32155570|PMID:32325837|PMID:32449991|PMID:32907878|PMID:32987645|PMID:33119245|PMID:33216348|PMID:33941849|PMID:34193977|PMID:35727838|PMID:9536098 8705185 Pot1 protection of telomeres 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344340 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25741868|PMID:25877891|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30586141|PMID:31919090|PMID:31937561|PMID:32155570|PMID:32325837|PMID:32449991|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33119245|PMID:33216348|PMID:33941849|PMID:34193977|PMID:35727838|PMID:9536098 8705185 Pot1 protection of telomeres 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344340 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30586141|PMID:31919090|PMID:31937561|PMID:32155570|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33119245|PMID:33216348|PMID:33941849|PMID:34193977|PMID:35727838|PMID:9536098 8705185 Pot1 protection of telomeres 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344340 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30586141|PMID:31919090|PMID:31937561|PMID:32155570|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33119245|PMID:33216348|PMID:33941849|PMID:34193977|PMID:35727838|PMID:36539277|PMID:36876055|PMID:37140166|PMID:9536098 8705185 Pot1 protection of telomeres 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344340 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27329137|PMID:27365461|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30556179|PMID:30586141|PMID:31919090|PMID:31937561|PMID:32033110|PMID:32155570|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33054084|PMID:33119245|PMID:33216348|PMID:33941849|PMID:34193977|PMID:35727838|PMID:36539277|PMID:36876055|PMID:37140166|PMID:9536098 8705185 Pot1 protection of telomeres 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344340 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27329137|PMID:27365461|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30556179|PMID:30586141|PMID:31919090|PMID:31937561|PMID:32033110|PMID:32155570|PMID:32191290|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33054084|PMID:33119245|PMID:33216348|PMID:33525650|PMID:33941849|PMID:34193977|PMID:35727838|PMID:36539277|PMID:36876055|PMID:37140166|PMID:9536098 8705185 Pot1 protection of telomeres 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344340 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:17576681|PMID:19461895|PMID:22722201|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27365461|PMID:27528712|PMID:27869160|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30556179|PMID:30586141|PMID:31937561|PMID:32033110|PMID:32155570|PMID:32191290|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33054084|PMID:33119245|PMID:33122293|PMID:33216348|PMID:33525650|PMID:33782098|PMID:33941849|PMID:34193977|PMID:34482403|PMID:34769003|PMID:35456397|PMID:35727838|PMID:36113475|PMID:36387164|PMID:36467798|PMID:36539277|PMID:36876055|PMID:37140166|PMID:38254993|PMID:38540414|PMID:38688277|PMID:9536098 8705185 Pot1 protection of telomeres 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344340 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome PMID:16199547|PMID:17576681|PMID:19461895|PMID:22722201|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27365461|PMID:27528712|PMID:27869160|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30556179|PMID:30586141|PMID:31685617|PMID:31937561|PMID:32033110|PMID:32155570|PMID:32191290|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33054084|PMID:33119245|PMID:33122293|PMID:33216348|PMID:33525650|PMID:33782098|PMID:33941849|PMID:34193977|PMID:34482403|PMID:34769003|PMID:35456397|PMID:35727838|PMID:36113475|PMID:36387164|PMID:36467798|PMID:36539277|PMID:36876055|PMID:37140166|PMID:37466057|PMID:38254993|PMID:38540414|PMID:38688277|PMID:9536098 8705185 Pot1 protection of telomeres 1 gene DOID:9256 colorectal cancer ISO RGD:1344340 D RGD:9068941 20220218 RGD DNA:SNP: :rs116895242 (human) PMID:27459707|REF_RGD_ID:151356949 8705185 Pot1 protection of telomeres 1 gene DOID:9256 colorectal cancer ISO RGD:1344340 D RGD:9068941 20220218 RGD DNA:SNP: :rs2975843 (human) PMID:32586834|REF_RGD_ID:151356943 8705185 Pot1 protection of telomeres 1 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1344340 D RGD:9068941 20220218 RGD mRNA:increased expression:colorectum PMID:25194444|REF_RGD_ID:151356940 8705224 Alk ALK receptor tyrosine kinase gene DOID:0050430 multiple endocrine neoplasia type 2A ISO RGD:1353820 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2a PMID:28492532 8705224 Alk ALK receptor tyrosine kinase gene DOID:0050430 multiple endocrine neoplasia type 2A ISO RGD:1353820 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia type 2A PMID:25741868|PMID:28492532 8705224 Alk ALK receptor tyrosine kinase gene DOID:0050741 alcohol dependence ISO RGD:1353820 D RGD:9068941 20250301 RGD DNA:SNP:CDS: (rs7592571) PMID:21703634|REF_RGD_ID:597830064 8705224 Alk ALK receptor tyrosine kinase gene DOID:0050744 anaplastic large cell lymphoma ISO RGD:1353820 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16151469|PMID:19503098|PMID:21345110|PMID:22155737|PMID:22920921|PMID:22968692 8705224 Alk ALK receptor tyrosine kinase gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1353820 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22474449 8705224 Alk ALK receptor tyrosine kinase gene DOID:0081277 diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype ISO RGD:1353820 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype PMID:25741868|PMID:28492532 8705224 Alk ALK receptor tyrosine kinase gene DOID:1324 lung cancer ISO RGD:1353820 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Lung cancer PMID:22277784|PMID:24887559|PMID:25741868|PMID:26939704|PMID:28492532 8705224 Alk ALK receptor tyrosine kinase gene DOID:2394 ovarian cancer ISO RGD:1353820 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:18923524|PMID:23104988|PMID:24728327|PMID:25741868|PMID:26580448|PMID:28492532 8705224 Alk ALK receptor tyrosine kinase gene DOID:2769 tic disorder ISO RGD:1353820 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Phonic tics PMID:25741868|PMID:32989326 8705224 Alk ALK receptor tyrosine kinase gene DOID:3247 rhabdomyosarcoma ISO RGD:1353820 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Rhabdomyosarcoma 8705224 Alk ALK receptor tyrosine kinase gene DOID:3677 pulmonary plasma cell granuloma ISO RGD:1353820 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21430068 8705224 Alk ALK receptor tyrosine kinase gene DOID:3907 lung squamous cell carcinoma ISO RGD:1353820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:24033266|PMID:24728327|PMID:25741868|PMID:28492532 8705224 Alk ALK receptor tyrosine kinase gene DOID:3908 lung non-small cell carcinoma ISO RGD:1353820 D RGD:9068941 20250109 CTD CTD Direct Evidence: marker/mechanism PMID:17625570|PMID:20979469|PMID:20979473|PMID:21102269|PMID:21336183|PMID:21587085|PMID:21757253|PMID:21767331|PMID:21791641|PMID:21823889|PMID:21904575|PMID:21933749|PMID:22215748|PMID:22277784|PMID:22282074|PMID:22286583|PMID:22508824|PMID:22568572|PMID:22617245|PMID:22713522|PMID:22787409|PMID:22887466|PMID:22920921|PMID:22954507|PMID:22968692|PMID:22986231|PMID:23020724|PMID:23686600 8705224 Alk ALK receptor tyrosine kinase gene DOID:3910 lung adenocarcinoma ISO RGD:1353820 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 8705224 Alk ALK receptor tyrosine kinase gene DOID:4450 renal cell carcinoma ISO RGD:1353820 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22743654 8705224 Alk ALK receptor tyrosine kinase gene DOID:769 neuroblastoma ISO RGD:1353820 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Neuroblastoma | ClinVar Annotator: match by term: Neuroblastoma Susceptibility PMID:25741868|PMID:28492532 8705224 Alk ALK receptor tyrosine kinase gene DOID:9000965 Neoplasm Metastasis ISO RGD:1353820 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22986231|PMID:22999080 8705224 Alk ALK receptor tyrosine kinase gene DOID:9004794 Granuloma, Plasma Cell ISO RGD:1353820 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20979472|PMID:21030459|PMID:22920921 8705224 Alk ALK receptor tyrosine kinase gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1353820 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22277784 8705224 Alk ALK receptor tyrosine kinase gene DOID:9006684 Inflammatory Breast Neoplasms ISO RGD:1353820 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22215853 8705224 Alk ALK receptor tyrosine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1353820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:16199547|PMID:16880530|PMID:17576681|PMID:18724359|PMID:18923523|PMID:18923524|PMID:18923525|PMID:21242967|PMID:21637378|PMID:21804922|PMID:21838707|PMID:22071890|PMID:22072639|PMID:22086496|PMID:22184391|PMID:22932897|PMID:23104988|PMID:23334666|PMID:23555315|PMID:24033266|PMID:24129244|PMID:24326041|PMID:24675991|PMID:24728327|PMID:25054154|PMID:25517749|PMID:25589003|PMID:25741868|PMID:25801821|PMID:25874976|PMID:25979929|PMID:26002608|PMID:26503946|PMID:26554404|PMID:26580448|PMID:26619011|PMID:26696773|PMID:26829053|PMID:27132509|PMID:27153395|PMID:27179218|PMID:27930734|PMID:28185914|PMID:28492532|PMID:28756644|PMID:28873162|PMID:28975465|PMID:29489754|PMID:29625052|PMID:29641532|PMID:29684080|PMID:30004444|PMID:30006516|PMID:30350464|PMID:30605844|PMID:30716324|PMID:30982079|PMID:30989433|PMID:32984025|PMID:33486679|PMID:33674381|PMID:33898318|PMID:9536098 8705224 Alk ALK receptor tyrosine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1353820 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:16199547|PMID:16880530|PMID:17576681|PMID:18724359|PMID:18923523|PMID:18923524|PMID:18923525|PMID:21242967|PMID:21637378|PMID:21804922|PMID:21838707|PMID:22071890|PMID:22072639|PMID:22086496|PMID:22184391|PMID:22932897|PMID:23104988|PMID:23334666|PMID:23555315|PMID:24033266|PMID:24129244|PMID:24326041|PMID:24675991|PMID:24728327|PMID:25054154|PMID:25517749|PMID:25589003|PMID:25741868|PMID:25801821|PMID:25874976|PMID:25979929|PMID:26002608|PMID:26554404|PMID:26580448|PMID:26619011|PMID:26696773|PMID:26829053|PMID:27132509|PMID:27153395|PMID:27179218|PMID:27930734|PMID:28185914|PMID:28492532|PMID:28873162|PMID:28975465|PMID:29489754|PMID:29625052|PMID:29641532|PMID:29684080|PMID:30004444|PMID:30006516|PMID:30350464|PMID:30605844|PMID:30716324|PMID:30982079|PMID:30989433|PMID:32984025|PMID:33486679|PMID:33674381|PMID:33898318|PMID:9536098 8705224 Alk ALK receptor tyrosine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1353820 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:15517393|PMID:16199547|PMID:16880530|PMID:17576681|PMID:18724359|PMID:18923523|PMID:18923524|PMID:18923525|PMID:21242967|PMID:21637378|PMID:21804922|PMID:21838707|PMID:22071890|PMID:22072639|PMID:22086496|PMID:22932897|PMID:23104988|PMID:23334666|PMID:23555315|PMID:24033266|PMID:24129244|PMID:24326041|PMID:24675991|PMID:24728327|PMID:25054154|PMID:25517749|PMID:25589003|PMID:25741868|PMID:25801821|PMID:25874976|PMID:25979929|PMID:26002608|PMID:26554404|PMID:26580448|PMID:26696773|PMID:26829053|PMID:27132509|PMID:27153395|PMID:27179218|PMID:27930734|PMID:28185914|PMID:28202063|PMID:28492532|PMID:28873162|PMID:28975465|PMID:29489754|PMID:29625052|PMID:29641532|PMID:29684080|PMID:30004444|PMID:30006516|PMID:30350464|PMID:30605844|PMID:30716324|PMID:30982079|PMID:30989433|PMID:32830346|PMID:32984025|PMID:33486679|PMID:33674381|PMID:33898318|PMID:35982322|PMID:36451132|PMID:9536098 8705224 Alk ALK receptor tyrosine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1353820 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:15517393|PMID:16199547|PMID:16880530|PMID:17576681|PMID:18724359|PMID:18923523|PMID:18923524|PMID:18923525|PMID:21242967|PMID:21637378|PMID:21804922|PMID:21838707|PMID:22071890|PMID:22072639|PMID:22086496|PMID:22932897|PMID:23104988|PMID:23334666|PMID:23555315|PMID:24033266|PMID:24129244|PMID:24326041|PMID:24675991|PMID:24728327|PMID:25054154|PMID:25517749|PMID:25589003|PMID:25741868|PMID:25801821|PMID:25874976|PMID:25979929|PMID:26002608|PMID:26554404|PMID:26580448|PMID:26696773|PMID:26829053|PMID:27132509|PMID:27153395|PMID:27179218|PMID:27930734|PMID:28185914|PMID:28202063|PMID:28492532|PMID:28873162|PMID:28975465|PMID:29489754|PMID:29625052|PMID:29641532|PMID:29684080|PMID:30004444|PMID:30006516|PMID:30350464|PMID:30605844|PMID:30716324|PMID:30982079|PMID:30989433|PMID:32371905|PMID:32830346|PMID:32984025|PMID:33486679|PMID:33674381|PMID:33898318|PMID:35957908|PMID:35980532|PMID:35982322|PMID:36451132|PMID:9536098 8705224 Alk ALK receptor tyrosine kinase gene DOID:9007502 Brain Neoplasms ISO RGD:1353820 D RGD:9068941 20250109 CTD CTD Direct Evidence: marker/mechanism PMID:22986231 8705224 Alk ALK receptor tyrosine kinase gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1353820 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22286764|PMID:23104988 8705224 Alk ALK receptor tyrosine kinase gene DOID:9007671 Familial Isolated Pituitary Adenoma ISO RGD:1353820 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Familial isolated pituitary adenoma PMID:17576681|PMID:23104988|PMID:25741868|PMID:28492532|PMID:32984025|PMID:9536098 8705224 Alk ALK receptor tyrosine kinase gene DOID:9008939 Breast Neoplasms ISO RGD:1353820 D RGD:9068941 20250109 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 8705224 Alk ALK receptor tyrosine kinase gene DOID:9009095 Neuroblastoma 3 ISO RGD:1353820 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: ALK-related condition | ClinVar Annotator: match by term: Neuroblastoma 3 | ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3 PMID:15517393|PMID:16199547|PMID:16880530|PMID:17576681|PMID:18724359|PMID:18923523|PMID:18923524|PMID:18923525|PMID:19763152|PMID:20307669|PMID:21242967|PMID:21637378|PMID:21804922|PMID:21838707|PMID:21972109|PMID:22034911|PMID:22071890|PMID:22072639|PMID:22086496|PMID:22277784|PMID:22406018|PMID:22932897|PMID:23104988|PMID:23334666|PMID:23555315|PMID:24033266|PMID:24129244|PMID:24205241|PMID:24326041|PMID:24675991|PMID:24728327|PMID:24887559|PMID:25054154|PMID:25517749|PMID:25589003|PMID:25640679|PMID:25714698|PMID:25741868|PMID:25801821|PMID:25874976|PMID:25979929|PMID:26002608|PMID:26554404|PMID:26580448|PMID:26689913|PMID:26696773|PMID:26829053|PMID:26939704|PMID:27132509|PMID:27153395|PMID:27179218|PMID:27285993|PMID:27930734|PMID:28185914|PMID:28202063|PMID:28492532|PMID:28873162|PMID:28975465|PMID:29489754|PMID:29625052|PMID:29641532|PMID:29684080|PMID:30004444|PMID:30350464|PMID:30605844|PMID:30716324|PMID:30982079|PMID:30989433|PMID:31263571|PMID:32371905|PMID:32830346|PMID:32984025|PMID:32989326|PMID:33372952|PMID:33486679|PMID:33674381|PMID:33898318|PMID:35957908|PMID:35980532|PMID:35982322|PMID:36451132|PMID:9536098 8705224 Alk ALK receptor tyrosine kinase gene DOID:9009095 Neuroblastoma 3 susceptibility ISO RGD:1353820 D RGD:7240710 20190502 OMIM 8705257 Nfrkb nuclear factor related to kappaB binding protein gene DOID:0070614 chromosome 11 partial duplication syndrome ISO RGD:1321531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8705257 Nfrkb nuclear factor related to kappaB binding protein gene DOID:0111723 Jacobsen Syndrome ISO RGD:1321531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 8705257 Nfrkb nuclear factor related to kappaB binding protein gene DOID:5419 schizophrenia ISO RGD:1321531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8705257 Nfrkb nuclear factor related to kappaB binding protein gene DOID:9007661 Dwarfism ISO RGD:1321531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8705295 Rnf216 ring finger protein 216 gene DOID:0081112 Baraitser-Winter syndrome 1 ISO RGD:1604006 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 PMID:27633570|PMID:28128450|PMID:28492532|PMID:31898838 8705295 Rnf216 ring finger protein 216 gene DOID:0081284 rosette-forming glioneuronal tumor ISO RGD:1604006 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Rosette-forming glioneuronal tumor PMID:26822237|PMID:27626068 8705295 Rnf216 ring finger protein 216 gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:1604006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia PMID:25558065 8705295 Rnf216 ring finger protein 216 gene DOID:0111587 Gordon Holmes syndrome ISO RGD:1604006 D RGD:7240710 20180130 OMIM 8705295 Rnf216 ring finger protein 216 gene DOID:0111587 Gordon Holmes syndrome ISO RGD:1604006 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia-hypogonadism syndrome | ClinVar Annotator: match by term: RNF216-related condition PMID:11932290|PMID:23656588|PMID:25741868|PMID:25841028|PMID:28492532|PMID:32982993 8705295 Rnf216 ring finger protein 216 gene DOID:630 genetic disease ISO RGD:1604006 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8705314 Samm50 SAMM50 sorting and assembly machinery component gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:1604035 D RGD:9068941 20200609 RGD DNA:SNPs: : PMID:26740948|REF_RGD_ID:13463463 8705314 Samm50 SAMM50 sorting and assembly machinery component gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1604035 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 8705314 Samm50 SAMM50 sorting and assembly machinery component gene DOID:1059 intellectual disability ISO RGD:1604035 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8705338 Ctc1 CST telomere replication complex component 1 gene DOID:0060971 interstitial lung disease 2 ISO RGD:1604790 D RGD:8554872 20240702 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 8705338 Ctc1 CST telomere replication complex component 1 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1604790 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 8705338 Ctc1 CST telomere replication complex component 1 gene DOID:12177 common variable immunodeficiency ISO RGD:1604790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:28492532 8705338 Ctc1 CST telomere replication complex component 1 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1604790 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:22431104|PMID:23172776|PMID:28492532 8705338 Ctc1 CST telomere replication complex component 1 gene DOID:182 calcinosis ISO RGD:1604790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22267198 8705338 Ctc1 CST telomere replication complex component 1 gene DOID:2493 gastric antral vascular ectasia ISO RGD:1604790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22267198 8705338 Ctc1 CST telomere replication complex component 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1604790 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:16199547|PMID:16943371|PMID:17576681|PMID:18076099|PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:22532422|PMID:22899577|PMID:23172776|PMID:23220793|PMID:23869908|PMID:24033266|PMID:2411576|PMID:24115768|PMID:25182133|PMID:25197929|PMID:25741868|PMID:25843205|PMID:28135719|PMID:28492532|PMID:28864049|PMID:29111009|PMID:29146883|PMID:29228254|PMID:29481669|PMID:30393977|PMID:30523342|PMID:3057194|PMID:30891747|PMID:30995915|PMID:31069529|PMID:31785789|PMID:32483926|PMID:33510405|PMID:33528536|PMID:34573280|PMID:34706368|PMID:35982159|PMID:37216690|PMID:9536098 8705338 Ctc1 CST telomere replication complex component 1 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1604790 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 8705338 Ctc1 CST telomere replication complex component 1 gene DOID:630 genetic disease ISO RGD:1604790 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:18076099|PMID:22267198|PMID:22387016|PMID:22532422|PMID:22899577|PMID:23869908|PMID:25741868|PMID:28492532|PMID:30891747|PMID:34706368 8705338 Ctc1 CST telomere replication complex component 1 gene DOID:7736 retinal telangiectasia ISO RGD:1604790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22267198 8705338 Ctc1 CST telomere replication complex component 1 gene DOID:9002278 Metabolic Bone Diseases ISO RGD:1604790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22267198 8705338 Ctc1 CST telomere replication complex component 1 gene DOID:9003025 Cerebroretinal Microangiopathy with Calcifications and Cysts ISO RGD:1604790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Coats plus syndrome PMID:22267198|PMID:22387016|PMID:23220793|PMID:23869908|PMID:24033266|PMID:25182133|PMID:25741868|PMID:28492532|PMID:30891747 8705338 Ctc1 CST telomere replication complex component 1 gene DOID:9003371 Cerebroretinal Microangiopathy with Calcifications and Cysts 1 ISO RGD:1604790 D RGD:7240710 20190501 OMIM 8705338 Ctc1 CST telomere replication complex component 1 gene DOID:9003371 Cerebroretinal Microangiopathy with Calcifications and Cysts 1 ISO RGD:1604790 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: CTC1-related condition | ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 PMID:16199547|PMID:16943371|PMID:17576681|PMID:18076099|PMID:22267198|PMID:22387016|PMID:22532422|PMID:22899577|PMID:23220793|PMID:23869908|PMID:24033266|PMID:2411576|PMID:24115768|PMID:25182133|PMID:25197929|PMID:25741868|PMID:25843205|PMID:28492532|PMID:28864049|PMID:29111009|PMID:29146883|PMID:29228254|PMID:29481669|PMID:30523342|PMID:3057194|PMID:30891747|PMID:31069529|PMID:32483926|PMID:33510405|PMID:33528536|PMID:34573280|PMID:34706368|PMID:35982159|PMID:37216690|PMID:9536098 8705338 Ctc1 CST telomere replication complex component 1 gene DOID:9004373 Autosomal Recessive Dyskeratosis Congenita ISO RGD:1604790 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive PMID:25741868 8705338 Ctc1 CST telomere replication complex component 1 gene DOID:936 brain disease ISO RGD:1604790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22267198 8705394 Il10 interleukin 10 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23962110 8705394 Il10 interleukin 10 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:8704212|REF_RGD_ID:11049460 8705394 Il10 interleukin 10 gene DOID:0050589 inflammatory bowel disease ISO RGD:735591 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease PMID:11121048|PMID:14657422|PMID:14657427|PMID:17576681|PMID:18550579|PMID:25741868|PMID:26193622|PMID:28492532|PMID:30290665|PMID:9536098 8705394 Il10 interleukin 10 gene DOID:0050589 inflammatory bowel disease no_association ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP: :rs1800896 (human) PMID:27468578|REF_RGD_ID:11534627 8705394 Il10 interleukin 10 gene DOID:0050589 inflammatory bowel disease treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:31062617|REF_RGD_ID:14975125 8705394 Il10 interleukin 10 gene DOID:0050827 rheumatic heart disease no_association ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:16043936|REF_RGD_ID:1598626 8705394 Il10 interleukin 10 gene DOID:0050848 obstructive sleep apnea ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:22143914|REF_RGD_ID:11049492 8705394 Il10 interleukin 10 gene DOID:0050865 tongue squamous cell carcinoma disease_progression ISO RGD:2886 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:17338814|REF_RGD_ID:8662972 8705394 Il10 interleukin 10 gene DOID:0050866 oral squamous cell carcinoma susceptibility ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-592A>C (human) PMID:28157558|REF_RGD_ID:14975130 8705394 Il10 interleukin 10 gene DOID:0060180 colitis ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:22461024|REF_RGD_ID:7771532 8705394 Il10 interleukin 10 gene DOID:0060180 colitis ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:21949848|REF_RGD_ID:7349385 8705394 Il10 interleukin 10 gene DOID:0060180 colitis ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:19238344|PMID:21807089|PMID:22119709|PMID:24314293 8705394 Il10 interleukin 10 gene DOID:0060180 colitis treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:23771723|REF_RGD_ID:7365024 8705394 Il10 interleukin 10 gene DOID:0060189 ileitis ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27580383 8705394 Il10 interleukin 10 gene DOID:0060496 respiratory allergy ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:20583974|REF_RGD_ID:4140460 8705394 Il10 interleukin 10 gene DOID:0060500 drug allergy ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19222424|PMID:20485159 8705394 Il10 interleukin 10 gene DOID:0060901 lymphoplasmacytic lymphoma ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:19573080|REF_RGD_ID:11049165 8705394 Il10 interleukin 10 gene DOID:0060903 thrombosis ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:12765335|REF_RGD_ID:1598469 8705394 Il10 interleukin 10 gene DOID:0070344 ocular tuberculosis ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:aqueous humor PMID:22583692|REF_RGD_ID:7364832 8705394 Il10 interleukin 10 gene DOID:0080158 herpes simplex virus keratitis treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:22467659|REF_RGD_ID:7364834 8705394 Il10 interleukin 10 gene DOID:0080160 cytomegalovirus retinitis ISO RGD:10785 D RGD:9068941 20200609 RGD associated with Murine Acquired Immunodeficiency Syndrome PMID:23415673|REF_RGD_ID:7364815 8705394 Il10 interleukin 10 gene DOID:0080178 mucositis ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20881642 8705394 Il10 interleukin 10 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease severity ISO RGD:735591 D RGD:9068941 20200609 RGD associated with morbid obesity PMID:25894568|REF_RGD_ID:14975151 8705394 Il10 interleukin 10 gene DOID:0080547 metabolic dysfunction-associated steatohepatitis ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-1082A>G (rs1800896) (human) PMID:28852433|REF_RGD_ID:14975143 8705394 Il10 interleukin 10 gene DOID:0080599 Coronavirus infectious disease ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:28493345|REF_RGD_ID:14975163 8705394 Il10 interleukin 10 gene DOID:0080600 COVID-19 ISO RGD:735591 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8705394 Il10 interleukin 10 gene DOID:0080600 COVID-19 ISO RGD:735591 D RGD:9068941 20200820 RGD protein:increased expression:plasma (human) PMID:32696007|REF_RGD_ID:38501088 8705394 Il10 interleukin 10 gene DOID:0080600 COVID-19 ISO RGD:735591 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:31986264|PMID:32161940 8705394 Il10 interleukin 10 gene DOID:0080600 COVID-19 severity ISO RGD:735591 D RGD:9068941 20200619 RGD protein:increased expression:plasma (human) PMID:31986264|REF_RGD_ID:30309212 8705394 Il10 interleukin 10 gene DOID:0080600 COVID-19 severity ISO RGD:735591 D RGD:9068941 20200625 RGD associated with cardiovascular system disease;protein:increased expression:blood (human) PMID:32456948|REF_RGD_ID:30309957 8705394 Il10 interleukin 10 gene DOID:0080600 COVID-19 severity ISO RGD:735591 D RGD:9068941 20200625 RGD protein:increased expression:serum (human) PMID:32365221|REF_RGD_ID:30310229 8705394 Il10 interleukin 10 gene DOID:0080642 Middle East respiratory syndrome ISO RGD:10785 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (mouse) PMID:32364527|REF_RGD_ID:27226699 8705394 Il10 interleukin 10 gene DOID:0081120 Graves ophthalmopathy ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-819C>T (human) PMID:21067483|REF_RGD_ID:7364859 8705394 Il10 interleukin 10 gene DOID:0081120 Graves ophthalmopathy ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:11753760|REF_RGD_ID:7365083 8705394 Il10 interleukin 10 gene DOID:0081150 common variable immunodeficiency 7 ISO RGD:735591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 PMID:28492532 8705394 Il10 interleukin 10 gene DOID:0081267 graft-versus-host disease ISO RGD:735591 D RGD:7240710 20250305 OMIM 8705394 Il10 interleukin 10 gene DOID:0081267 graft-versus-host disease ISO RGD:735591 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Graft-versus-host disease, resistance to | ClinVar Annotator: match by term: Graft-versus-host disease, susceptibility to PMID:11121048|PMID:14657422|PMID:14657427|PMID:18550579|PMID:25741868|PMID:28492532 8705394 Il10 interleukin 10 gene DOID:0081267 graft-versus-host disease disease_progression ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP: :rs1800872 (human) PMID:19409109|REF_RGD_ID:11046269 8705394 Il10 interleukin 10 gene DOID:0081267 graft-versus-host disease no_association ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:polymorphisms PMID:20195716|REF_RGD_ID:11049177 8705394 Il10 interleukin 10 gene DOID:0081267 graft-versus-host disease severity ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:repeat:promoter PMID:9808588|REF_RGD_ID:2316565 8705394 Il10 interleukin 10 gene DOID:0081267 graft-versus-host disease treatment ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:25034146|REF_RGD_ID:11041897 8705394 Il10 interleukin 10 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:735591 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 8705394 Il10 interleukin 10 gene DOID:10140 dry eye syndrome ISO RGD:735591 D RGD:9068941 20200609 RGD associated with Sjogren's Syndrome;protein:increased expression:tear PMID:23752063|REF_RGD_ID:7364807 8705394 Il10 interleukin 10 gene DOID:1024 leprosy ISO RGD:735591 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 PMID:28492532 8705394 Il10 interleukin 10 gene DOID:10247 pleurisy ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11181422 8705394 Il10 interleukin 10 gene DOID:104 bacterial infectious disease ISO RGD:735591 D RGD:9068941 20200609 RGD associated with Otitis Media PMID:22668804|REF_RGD_ID:7364828 8705394 Il10 interleukin 10 gene DOID:10459 common cold ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:20696083|REF_RGD_ID:4140458 8705394 Il10 interleukin 10 gene DOID:10533 viral pneumonia treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:25219125|REF_RGD_ID:10450576 8705394 Il10 interleukin 10 gene DOID:10534 stomach cancer ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:30610790|REF_RGD_ID:14975253 8705394 Il10 interleukin 10 gene DOID:10534 stomach cancer ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-819C>T (rs1800871) (human) PMID:28002581|REF_RGD_ID:14975135 8705394 Il10 interleukin 10 gene DOID:10608 celiac disease ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:27545437|REF_RGD_ID:14975156 8705394 Il10 interleukin 10 gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:735591 D RGD:9068941 20200806 RGD DNA:SNPs,haplotype: -1082G>A, -819T>C, -592C>A (human) PMID:14746878|REF_RGD_ID:1358665 8705394 Il10 interleukin 10 gene DOID:10652 Alzheimer's disease treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:21803105|REF_RGD_ID:7364841 8705394 Il10 interleukin 10 gene DOID:1067 open-angle glaucoma ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:23788371|REF_RGD_ID:7364852 8705394 Il10 interleukin 10 gene DOID:10754 otitis media ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:18771082|REF_RGD_ID:7365029 8705394 Il10 interleukin 10 gene DOID:10754 otitis media ISO RGD:2886 D RGD:9068941 20200609 RGD associated with Haemophilus Infections PMID:18524391|REF_RGD_ID:4891398 8705394 Il10 interleukin 10 gene DOID:10754 otitis media ISO RGD:2886 D RGD:9068941 20200609 RGD associated with Pneumococcal Infections;mRNA:increased expression:middle ear PMID:14500471|REF_RGD_ID:7365082 8705394 Il10 interleukin 10 gene DOID:10754 otitis media ISO RGD:735591 D RGD:9068941 20200609 RGD associated with Pneumococcal Infections;protein:increased expression:middle ear, serum PMID:23404508|REF_RGD_ID:7364816 8705394 Il10 interleukin 10 gene DOID:10754 otitis media ISO RGD:735591 D RGD:9068941 20200609 RGD associated with respiratory syncytial virus infectious disease, associated with common cold;DNA:SNPs, haplotypes:promoter:-1082G>A, -819T>C, -592A>C (human) PMID:18560870|REF_RGD_ID:7365038 8705394 Il10 interleukin 10 gene DOID:10754 otitis media susceptibility ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-1082G>A (human) PMID:17908769|REF_RGD_ID:7365054 8705394 Il10 interleukin 10 gene DOID:10763 hypertension ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:19398662|REF_RGD_ID:2311047 8705394 Il10 interleukin 10 gene DOID:10923 sickle cell anemia treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:24281564|REF_RGD_ID:11046271 8705394 Il10 interleukin 10 gene DOID:11168 anogenital venereal wart ISO RGD:735591 D RGD:9068941 20201105 RGD mRNA,protein:increased expression:multiple (human) PMID:23754510|REF_RGD_ID:40400714 8705394 Il10 interleukin 10 gene DOID:11204 allergic conjunctivitis ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:19060266|REF_RGD_ID:7365027 8705394 Il10 interleukin 10 gene DOID:11204 allergic conjunctivitis ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:22092652|REF_RGD_ID:7364837 8705394 Il10 interleukin 10 gene DOID:11204 allergic conjunctivitis ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:tear PMID:15144463|REF_RGD_ID:7365076 8705394 Il10 interleukin 10 gene DOID:11204 allergic conjunctivitis treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:16914468|REF_RGD_ID:11041889 8705394 Il10 interleukin 10 gene DOID:11247 disseminated intravascular coagulation ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16613997|REF_RGD_ID:11049462 8705394 Il10 interleukin 10 gene DOID:11265 trachoma ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:−1082G>A (human) PMID:11023480|REF_RGD_ID:7365085 8705394 Il10 interleukin 10 gene DOID:11265 trachoma ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:tear PMID:18628987|REF_RGD_ID:7365037 8705394 Il10 interleukin 10 gene DOID:11265 trachoma no_association ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:−819T>C, −592A>C (human) PMID:11023480|REF_RGD_ID:7365085 8705394 Il10 interleukin 10 gene DOID:11265 trachoma severity ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP, haplotype:promoter:−1082G>A (human) PMID:15789056|REF_RGD_ID:7365072 8705394 Il10 interleukin 10 gene DOID:11265 trachoma severity ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:haplotype: : PMID:17947295|REF_RGD_ID:7365053 8705394 Il10 interleukin 10 gene DOID:11394 adult respiratory distress syndrome treatment ISO RGD:2886 D RGD:9068941 20200609 RGD associated with Sepsis PMID:22037734|REF_RGD_ID:11049486 8705394 Il10 interleukin 10 gene DOID:11446 sciatic neuropathy treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:22173123|REF_RGD_ID:7364836 8705394 Il10 interleukin 10 gene DOID:11446 sciatic neuropathy treatment ISO RGD:2886 D RGD:9068941 20200609 RGD associated with Constriction, Pathologic PMID:22889616|REF_RGD_ID:7364826 8705394 Il10 interleukin 10 gene DOID:11714 gestational diabetes ISO RGD:735591 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:18446686|REF_RGD_ID:2308947 8705394 Il10 interleukin 10 gene DOID:118 pericardial effusion severity ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:16360340|REF_RGD_ID:1598622 8705394 Il10 interleukin 10 gene DOID:12030 panuveitis ISO RGD:735591 D RGD:9068941 20200609 RGD associated with Multifocal Choroiditis;DNA:SNP:intron: (rs2222202) (human) PMID:21357402|REF_RGD_ID:7364844 8705394 Il10 interleukin 10 gene DOID:12132 granulomatosis with polyangiitis ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:11838849|REF_RGD_ID:1580480 8705394 Il10 interleukin 10 gene DOID:12134 factor VIII deficiency treatment ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes:promoter:rs1800896 (-1082G/A), rs1800871 (-819C/T), rs1800872 (-592C/A) (human) PMID:20082647|REF_RGD_ID:11049183 8705394 Il10 interleukin 10 gene DOID:12236 primary biliary cholangitis ISO RGD:735591 D RGD:9068941 20200820 RGD mRNA:increased expression:liver PMID:17158635|REF_RGD_ID:38501106 8705394 Il10 interleukin 10 gene DOID:12361 Graves' disease ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP: :rs1800896 (human) PMID:21424183|REF_RGD_ID:7364858 8705394 Il10 interleukin 10 gene DOID:12361 Graves' disease ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-1082A>G, -819C>T, -592C>A (human) PMID:19882211|REF_RGD_ID:7364862 8705394 Il10 interleukin 10 gene DOID:12361 Graves' disease ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19250272|REF_RGD_ID:7365026 8705394 Il10 interleukin 10 gene DOID:12361 Graves' disease no_association ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:multiple PMID:15497451|REF_RGD_ID:7365074 8705394 Il10 interleukin 10 gene DOID:12385 shigellosis treatment ISO RGD:10785 D RGD:9068941 20201022 RGD PMID:30615126|REF_RGD_ID:39938959 8705394 Il10 interleukin 10 gene DOID:1273 respiratory syncytial virus infectious disease severity ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:20209309|REF_RGD_ID:4140425 8705394 Il10 interleukin 10 gene DOID:12732 intermediate uveitis ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:aqueous humor PMID:21850175|REF_RGD_ID:7364840 8705394 Il10 interleukin 10 gene DOID:12849 autistic disorder ISO RGD:735591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8705394 Il10 interleukin 10 gene DOID:12894 Sjogren's syndrome ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:12233881|REF_RGD_ID:1580479 8705394 Il10 interleukin 10 gene DOID:12930 dilated cardiomyopathy ISO RGD:2886 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart left ventricle PMID:19242323|REF_RGD_ID:2311057 8705394 Il10 interleukin 10 gene DOID:13001 carotid stenosis no_association ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:16804000|REF_RGD_ID:1598483 8705394 Il10 interleukin 10 gene DOID:13025 retinopathy of prematurity ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:vitreous humor PMID:19700197|REF_RGD_ID:7364863 8705394 Il10 interleukin 10 gene DOID:13141 uveitis ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes:promoter, :rs2222202, rs3024490, rs6703630 (human) PMID:20335604|REF_RGD_ID:7364845 8705394 Il10 interleukin 10 gene DOID:13141 uveitis ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:10865312|REF_RGD_ID:7365086 8705394 Il10 interleukin 10 gene DOID:13241 Behcet's disease ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20622878|PMID:20622879 8705394 Il10 interleukin 10 gene DOID:13241 Behcet's disease ISO RGD:735591 D RGD:9068941 20200609 RGD DNA, protein:hypermethylation, decreased expression:promoter, serum PMID:29719061|REF_RGD_ID:14975149 8705394 Il10 interleukin 10 gene DOID:13241 Behcet's disease disease_progression ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:15980236|REF_RGD_ID:1598628 8705394 Il10 interleukin 10 gene DOID:13241 Behcet's disease onset ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:26654556|REF_RGD_ID:14975256 8705394 Il10 interleukin 10 gene DOID:13241 Behcet's disease susceptibility ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-592A>C (rs1800872) (human) PMID:29294320|REF_RGD_ID:14975131 8705394 Il10 interleukin 10 gene DOID:13241 Behcet's disease treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:21506890|REF_RGD_ID:7364843 8705394 Il10 interleukin 10 gene DOID:13636 Fanconi anemia ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:24021704|REF_RGD_ID:11049161 8705394 Il10 interleukin 10 gene DOID:1380 endometrial cancer ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:9119882|REF_RGD_ID:2317659 8705394 Il10 interleukin 10 gene DOID:14115 toxic shock syndrome ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:7593621|REF_RGD_ID:11049456 8705394 Il10 interleukin 10 gene DOID:14115 toxic shock syndrome ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:12117955|REF_RGD_ID:1598471 8705394 Il10 interleukin 10 gene DOID:14115 toxic shock syndrome ISO RGD:735591 D RGD:9068941 20200806 RGD protein:increased expression:plasma PMID:25403265|REF_RGD_ID:38455982 8705394 Il10 interleukin 10 gene DOID:14115 toxic shock syndrome onset ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:12117955|REF_RGD_ID:1598471 8705394 Il10 interleukin 10 gene DOID:14115 toxic shock syndrome severity ISO RGD:10785 D RGD:9068941 20201211 RGD protein:increased expression:lung (mouse) PMID:28659355|REF_RGD_ID:40890272 8705394 Il10 interleukin 10 gene DOID:1417 choroid disease ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:rs6703630 (human) PMID:21357402|REF_RGD_ID:7364844 8705394 Il10 interleukin 10 gene DOID:1459 hypothyroidism ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:24534949|REF_RGD_ID:11049472 8705394 Il10 interleukin 10 gene DOID:1459 hypothyroidism treatment ISO RGD:2886 D RGD:9068941 20200903 RGD PMID:29896255|REF_RGD_ID:38549578 8705394 Il10 interleukin 10 gene DOID:14654 prostatitis ISO RGD:2886 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland, serum PMID:19213347|REF_RGD_ID:2311058 8705394 Il10 interleukin 10 gene DOID:14654 prostatitis ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12050565 8705394 Il10 interleukin 10 gene DOID:1470 major depressive disorder ISO RGD:735591 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic;DNA:SNPs, haplotype:promoter:-592C>A, -���819C>T, -1082G>A (human) PMID:30734130|REF_RGD_ID:14975122 8705394 Il10 interleukin 10 gene DOID:1474 aggressive periodontitis ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-592C>A (rs1800872) (human) PMID:28662328|REF_RGD_ID:14975139 8705394 Il10 interleukin 10 gene DOID:1474 aggressive periodontitis ISO RGD:735591 D RGD:9068941 20200609 RGD protien:decreased expression:plasma PMID:28868949|REF_RGD_ID:14975264 8705394 Il10 interleukin 10 gene DOID:1540 parathyroid carcinoma ISO RGD:735591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8705394 Il10 interleukin 10 gene DOID:1574 alcohol use disorder ISO RGD:2886 D RGD:9068941 20240120 RGD mRNA:increased expression:liver PMID:22269225|REF_RGD_ID:401959317 8705394 Il10 interleukin 10 gene DOID:1580 diffuse scleroderma ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:9034992|REF_RGD_ID:5684371 8705394 Il10 interleukin 10 gene DOID:1588 thrombocytopenia ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:11091188|REF_RGD_ID:11049172 8705394 Il10 interleukin 10 gene DOID:1588 thrombocytopenia severity ISO RGD:735591 D RGD:9068941 20200609 RGD associated with Malaria, Vivax PMID:25128199|REF_RGD_ID:11041893 8705394 Il10 interleukin 10 gene DOID:1754 mitral valve stenosis ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:16155388|REF_RGD_ID:1598624 8705394 Il10 interleukin 10 gene DOID:1793 pancreatic cancer ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:30610790|REF_RGD_ID:14975253 8705394 Il10 interleukin 10 gene DOID:1793 pancreatic cancer ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17235586|REF_RGD_ID:2317655 8705394 Il10 interleukin 10 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:30304975|REF_RGD_ID:14975257 8705394 Il10 interleukin 10 gene DOID:1793 pancreatic cancer susceptibility ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:polymorphism: :-1082G>A (human) PMID:19250218|REF_RGD_ID:2317653 8705394 Il10 interleukin 10 gene DOID:1883 hepatitis C ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:28340949|REF_RGD_ID:14975144 8705394 Il10 interleukin 10 gene DOID:1883 hepatitis C ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19302182|REF_RGD_ID:2308942 8705394 Il10 interleukin 10 gene DOID:1883 hepatitis C no_association ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1800896 (human) PMID:28340949|REF_RGD_ID:14975144 8705394 Il10 interleukin 10 gene DOID:1936 atherosclerosis treatment ISO RGD:10785 D RGD:9068941 20230930 RGD PMID:29593532|REF_RGD_ID:401827839 8705394 Il10 interleukin 10 gene DOID:2043 hepatitis B no_association ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-592C>A (rs1800872), -819C>A (rs1800871) (human) PMID:27644568|REF_RGD_ID:14975150 8705394 Il10 interleukin 10 gene DOID:2043 hepatitis B treatment ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP, haplotypes:promoter:-1082G>A (rs1800896) (human) PMID:27644568|REF_RGD_ID:14975150 8705394 Il10 interleukin 10 gene DOID:2048 autoimmune hepatitis ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21227906 8705394 Il10 interleukin 10 gene DOID:219 colon cancer ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-592C>A (rs1800872) (human) PMID:27468578|REF_RGD_ID:11534627 8705394 Il10 interleukin 10 gene DOID:219 colon cancer no_association ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP: :rs1800896 (human) PMID:27468578|REF_RGD_ID:11534627 8705394 Il10 interleukin 10 gene DOID:224 transient cerebral ischemia treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:24053818|REF_RGD_ID:7364868 8705394 Il10 interleukin 10 gene DOID:2349 arteriosclerosis ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:12765335|REF_RGD_ID:1598469 8705394 Il10 interleukin 10 gene DOID:2349 arteriosclerosis susceptibility ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:16523426|REF_RGD_ID:1598477 8705394 Il10 interleukin 10 gene DOID:2355 anemia severity ISO RGD:735591 D RGD:9068941 20200609 RGD associated with Malaria;protein:decreased expression:plasma PMID:9635949|REF_RGD_ID:11049182 8705394 Il10 interleukin 10 gene DOID:2377 multiple sclerosis ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23517930 8705394 Il10 interleukin 10 gene DOID:2394 ovarian cancer ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:9166545|REF_RGD_ID:2317660 8705394 Il10 interleukin 10 gene DOID:2841 asthma ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:20237464|PMID:20644177|REF_RGD_ID:4140459|REF_RGD_ID:4140471 8705394 Il10 interleukin 10 gene DOID:2841 asthma ISO RGD:2515 D RGD:9068941 20200609 RGD PMID:20560982|REF_RGD_ID:5131623 8705394 Il10 interleukin 10 gene DOID:2841 asthma ISO RGD:2886 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:20230687|REF_RGD_ID:4140421 8705394 Il10 interleukin 10 gene DOID:2841 asthma ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29317916 8705394 Il10 interleukin 10 gene DOID:2841 asthma ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:20121766|REF_RGD_ID:4140451 8705394 Il10 interleukin 10 gene DOID:2841 asthma susceptibility ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:polymorphism: :-627C>A (human) PMID:12938145|REF_RGD_ID:4143221 8705394 Il10 interleukin 10 gene DOID:2841 asthma treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:21998459|REF_RGD_ID:11046261 8705394 Il10 interleukin 10 gene DOID:2862 glucosephosphate dehydrogenase deficiency ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-592A>C (human) PMID:15718915|REF_RGD_ID:11049178 8705394 Il10 interleukin 10 gene DOID:2862 glucosephosphate dehydrogenase deficiency no_association ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-1082G>A, -819T>C (human) PMID:15718915|REF_RGD_ID:11049178 8705394 Il10 interleukin 10 gene DOID:289 endometriosis ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30579999 8705394 Il10 interleukin 10 gene DOID:289 endometriosis treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:21665488|REF_RGD_ID:11049494 8705394 Il10 interleukin 10 gene DOID:2913 acute pancreatitis ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-1082G>A (human) PMID:27173345|REF_RGD_ID:14975140 8705394 Il10 interleukin 10 gene DOID:2913 acute pancreatitis no_association ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter: -819T>C (human) PMID:27173345|REF_RGD_ID:14975140 8705394 Il10 interleukin 10 gene DOID:2921 glomerulonephritis ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10910440 8705394 Il10 interleukin 10 gene DOID:2945 severe acute respiratory syndrome ISO RGD:10785 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (mouse) PMID:32364527|REF_RGD_ID:27226699 8705394 Il10 interleukin 10 gene DOID:2945 severe acute respiratory syndrome ISO RGD:2886 D RGD:9068941 20200702 RGD protein:increased expression:serum, bronchoalveolar Lavage fluid (rat) PMID:16409721|REF_RGD_ID:32726073 8705394 Il10 interleukin 10 gene DOID:2945 severe acute respiratory syndrome treatment ISO RGD:735591 D RGD:9068941 20200702 RGD PMID:15865221|REF_RGD_ID:33769580 8705394 Il10 interleukin 10 gene DOID:3021 acute kidney failure ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18460982 8705394 Il10 interleukin 10 gene DOID:3042 allergic contact dermatitis ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15347381 8705394 Il10 interleukin 10 gene DOID:3042 allergic contact dermatitis treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:23760007|REF_RGD_ID:7364806 8705394 Il10 interleukin 10 gene DOID:3070 high grade glioma susceptibility ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP: :rs1800896 (human) PMID:20406895|REF_RGD_ID:4140470 8705394 Il10 interleukin 10 gene DOID:3229 gastric dilatation ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:30249047|REF_RGD_ID:14975138 8705394 Il10 interleukin 10 gene DOID:3234 central nervous system lymphoma ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-1082G>A (human) PMID:22628023|REF_RGD_ID:7364831 8705394 Il10 interleukin 10 gene DOID:3310 atopic dermatitis ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18249437 8705394 Il10 interleukin 10 gene DOID:3310 atopic dermatitis treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:23843958|REF_RGD_ID:7364805 8705394 Il10 interleukin 10 gene DOID:3393 coronary artery disease ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:16460885|REF_RGD_ID:1598621 8705394 Il10 interleukin 10 gene DOID:3393 coronary artery disease no_association ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-592C>A (rs1800872), -819C>T (rs1800871) (human) PMID:29525679|REF_RGD_ID:14975129 8705394 Il10 interleukin 10 gene DOID:3393 coronary artery disease susceptibility ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-1082A>G (rs1800896) (human) PMID:29525679|REF_RGD_ID:14975129 8705394 Il10 interleukin 10 gene DOID:3407 carotid artery disease ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:16801669|REF_RGD_ID:1598484 8705394 Il10 interleukin 10 gene DOID:3525 middle cerebral artery infarction ameliorates ISO RGD:10785 D RGD:9068941 20230330 RGD PMID:28630232|REF_RGD_ID:242905192 8705394 Il10 interleukin 10 gene DOID:3526 cerebral infarction treatment ISO RGD:10785 D RGD:9068941 20220930 RGD PMID:29111308|REF_RGD_ID:155260331 8705394 Il10 interleukin 10 gene DOID:3571 liver cancer ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:30610790|REF_RGD_ID:14975253 8705394 Il10 interleukin 10 gene DOID:3602 toxic encephalopathy treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:23916895|REF_RGD_ID:7364985 8705394 Il10 interleukin 10 gene DOID:37 skin disease severity ISO RGD:735591 D RGD:9068941 20200609 RGD associated with Arsenic Poisoning PMID:21357384|REF_RGD_ID:7364846 8705394 Il10 interleukin 10 gene DOID:37 skin disease susceptibility ISO RGD:735591 D RGD:9068941 20200609 RGD associated with Arsenic Poisoning;DNA:SNP:promoter:−3575T>A (human) PMID:21357384|REF_RGD_ID:7364846 8705394 Il10 interleukin 10 gene DOID:3721 plasmacytoma ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:26140236|REF_RGD_ID:11049175 8705394 Il10 interleukin 10 gene DOID:3825 Shwartzman phenomenon ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:7593621|REF_RGD_ID:11049456 8705394 Il10 interleukin 10 gene DOID:3904 bronchus carcinoma ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:8030748|REF_RGD_ID:4143231 8705394 Il10 interleukin 10 gene DOID:3908 lung non-small cell carcinoma ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20471133 8705394 Il10 interleukin 10 gene DOID:4362 cervical cancer disease_progression ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:9541628|REF_RGD_ID:2317658 8705394 Il10 interleukin 10 gene DOID:4404 occupational dermatitis ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29477354 8705394 Il10 interleukin 10 gene DOID:4481 allergic rhinitis ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:23883806|REF_RGD_ID:7364793 8705394 Il10 interleukin 10 gene DOID:4481 allergic rhinitis ISO RGD:735591 D RGD:9068941 20240606 CTD CTD Direct Evidence: marker/mechanism PMID:36127783 8705394 Il10 interleukin 10 gene DOID:4481 allergic rhinitis treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:23253209|REF_RGD_ID:7364818 8705394 Il10 interleukin 10 gene DOID:4780 anti-basement membrane glomerulonephritis treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:23826305|REF_RGD_ID:7365004 8705394 Il10 interleukin 10 gene DOID:4947 cholangiocarcinoma ISO RGD:735591 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma PMID:11121048|PMID:14657422|PMID:14657427|PMID:18550579|PMID:25741868|PMID:28492532 8705394 Il10 interleukin 10 gene DOID:4948 gallbladder carcinoma susceptibility ISO RGD:735591 D RGD:9068941 20200609 RGD associated with Cholelithiasis PMID:19065724|REF_RGD_ID:2317654 8705394 Il10 interleukin 10 gene DOID:5041 esophageal cancer treatment ISO RGD:735591 D RGD:9068941 20220715 RGD PMID:26603620|REF_RGD_ID:152998997 8705394 Il10 interleukin 10 gene DOID:5082 liver cirrhosis ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-1082G>A (rs1800896) (human) PMID:26909998|REF_RGD_ID:14975152 8705394 Il10 interleukin 10 gene DOID:5082 liver cirrhosis no_association ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-592C>A (rs1800872) (human) PMID:26909998|REF_RGD_ID:14975152 8705394 Il10 interleukin 10 gene DOID:5082 liver cirrhosis no_association ISO RGD:735591 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic;DNA:SNP:promoter:-1082 G>A (human) PMID:27660094|REF_RGD_ID:14975134 8705394 Il10 interleukin 10 gene DOID:5082 liver cirrhosis severity ISO RGD:735591 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic;DNA:SNP:promoter:-592C>A (human) PMID:27660094|REF_RGD_ID:14975134 8705394 Il10 interleukin 10 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:735591 D RGD:7240710 20250305 OMIM 8705394 Il10 interleukin 10 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:735591 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to PMID:11121048|PMID:14657422|PMID:14657427|PMID:18550579|PMID:25741868|PMID:28492532 8705394 Il10 interleukin 10 gene DOID:526 human immunodeficiency virus infectious disease treatment ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:10666520|REF_RGD_ID:7365087 8705394 Il10 interleukin 10 gene DOID:5419 schizophrenia ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:11922883|REF_RGD_ID:1580481 8705394 Il10 interleukin 10 gene DOID:552 pneumonia disease_progression ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:20595152|REF_RGD_ID:4140400 8705394 Il10 interleukin 10 gene DOID:5679 retinal disease ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:21273540|REF_RGD_ID:7364850 8705394 Il10 interleukin 10 gene DOID:5679 retinal disease treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:23720065|REF_RGD_ID:7364808 8705394 Il10 interleukin 10 gene DOID:5844 myocardial infarction ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15883752|PMID:16310260 8705394 Il10 interleukin 10 gene DOID:5844 myocardial infarction susceptibility ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:15466015|REF_RGD_ID:1598480 8705394 Il10 interleukin 10 gene DOID:6000 congestive heart failure ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:28939262|REF_RGD_ID:14975271 8705394 Il10 interleukin 10 gene DOID:6000 congestive heart failure disease_progression ISO RGD:2886 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:cardiac ventricle (rat) PMID:16461369|REF_RGD_ID:1598465 8705394 Il10 interleukin 10 gene DOID:6000 congestive heart failure treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:23778495|REF_RGD_ID:7365020 8705394 Il10 interleukin 10 gene DOID:6432 pulmonary hypertension disease_progression ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20713898|REF_RGD_ID:4142530 8705394 Il10 interleukin 10 gene DOID:684 hepatocellular carcinoma ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:26890368|REF_RGD_ID:14975171 8705394 Il10 interleukin 10 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:23822114|REF_RGD_ID:7365006 8705394 Il10 interleukin 10 gene DOID:686 liver carcinoma ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-592C>A (rs1800872) (human) PMID:28763918|REF_RGD_ID:14975157 8705394 Il10 interleukin 10 gene DOID:7148 rheumatoid arthritis ISO RGD:735591 D RGD:7240710 20250305 OMIM 8705394 Il10 interleukin 10 gene DOID:7148 rheumatoid arthritis ISO RGD:735591 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: RHEUMATOID ARTHRITIS, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Rheumatoid arthritis, progression of PMID:12847677|PMID:25741868|PMID:28492532 8705394 Il10 interleukin 10 gene DOID:718 autoimmune hemolytic anemia treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:12093879|REF_RGD_ID:11049457 8705394 Il10 interleukin 10 gene DOID:7693 abdominal aortic aneurysm ISO RGD:2886 D RGD:9068941 20201002 RGD protein:decreased expression:serum (rat) PMID:15238617|REF_RGD_ID:1302825 8705394 Il10 interleukin 10 gene DOID:7997 thyrotoxicosis ISO RGD:2886 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19343192|REF_RGD_ID:2311054 8705394 Il10 interleukin 10 gene DOID:7998 hyperthyroidism ISO RGD:10785 D RGD:9068941 20200609 RGD associated with Graves Disease PMID:21474590|REF_RGD_ID:7364857 8705394 Il10 interleukin 10 gene DOID:7998 hyperthyroidism ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:24534949|REF_RGD_ID:11049472 8705394 Il10 interleukin 10 gene DOID:820 myocarditis ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:17042978|REF_RGD_ID:1598481 8705394 Il10 interleukin 10 gene DOID:820 myocarditis treatment ISO RGD:10785 D RGD:9068941 20200609 RGD associated with Coxsackievirus Infections PMID:21333491|REF_RGD_ID:7364847 8705394 Il10 interleukin 10 gene DOID:824 periodontitis ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:23843954|REF_RGD_ID:7364998 8705394 Il10 interleukin 10 gene DOID:824 periodontitis treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:27795360|REF_RGD_ID:14975132 8705394 Il10 interleukin 10 gene DOID:824 periodontitis treatment ISO RGD:2886 D RGD:9068941 20200609 RGD associated with type 2 diabetes mellitus PMID:30405072|REF_RGD_ID:14975259 8705394 Il10 interleukin 10 gene DOID:8337 appendicitis ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367942 8705394 Il10 interleukin 10 gene DOID:8437 intestinal obstruction ISO RGD:2886 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:19377777|REF_RGD_ID:2311052 8705394 Il10 interleukin 10 gene DOID:8483 retinal artery occlusion susceptibility ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-592C>A (rs1800872) (human) PMID:17438520|REF_RGD_ID:7365056 8705394 Il10 interleukin 10 gene DOID:850 lung disease ISO RGD:2886 D RGD:9068941 20200609 RGD Acute Lung Injury PMID:19386070|REF_RGD_ID:2311048 8705394 Il10 interleukin 10 gene DOID:850 lung disease ISO RGD:2886 D RGD:9068941 20200609 RGD Ventilator-Induced Lung Injury;protein:increased expression:lung PMID:20663303|REF_RGD_ID:4140396 8705394 Il10 interleukin 10 gene DOID:850 lung disease ISO RGD:2886 D RGD:9068941 20200609 RGD associated with Shock, Hemorrhagic PMID:20622590|REF_RGD_ID:4140398 8705394 Il10 interleukin 10 gene DOID:850 lung disease ISO RGD:735591 D RGD:9068941 20200806 RGD associated with HTLV-I Infections;protein:increased expression:bronchoalveolar lavage fluid: PMID:24292748|REF_RGD_ID:36947872 8705394 Il10 interleukin 10 gene DOID:8536 herpes zoster ISO RGD:735591 D RGD:9068941 20200609 RGD protein:decreased expression:: PMID:21954956|REF_RGD_ID:8663478 8705394 Il10 interleukin 10 gene DOID:8552 chronic myeloid leukemia treatment ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:20305143|REF_RGD_ID:11049154 8705394 Il10 interleukin 10 gene DOID:8564 lip cancer ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:26723902|REF_RGD_ID:14975265 8705394 Il10 interleukin 10 gene DOID:8567 Hodgkin's lymphoma treatment ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:21466366|REF_RGD_ID:11049168 8705394 Il10 interleukin 10 gene DOID:8577 ulcerative colitis ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18836448|PMID:20228799 8705394 Il10 interleukin 10 gene DOID:8577 ulcerative colitis ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:26660358|PMID:28120341|REF_RGD_ID:14975153|REF_RGD_ID:14975255 8705394 Il10 interleukin 10 gene DOID:865 vasculitis ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:16504995|REF_RGD_ID:1598487 8705394 Il10 interleukin 10 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:22450025|REF_RGD_ID:11049491 8705394 Il10 interleukin 10 gene DOID:8677 perinatal necrotizing enterocolitis treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:23783008|REF_RGD_ID:7365018 8705394 Il10 interleukin 10 gene DOID:8717 decubitus ulcer ISO RGD:2886 D RGD:9068941 20200609 RGD mRNA:increased expression:skin PMID:26177082|REF_RGD_ID:11049489 8705394 Il10 interleukin 10 gene DOID:874 bacterial pneumonia severity ISO RGD:10785 D RGD:9068941 20200820 RGD PMID:25398094|REF_RGD_ID:38501102 8705394 Il10 interleukin 10 gene DOID:8778 Crohn's disease ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:29899181|REF_RGD_ID:14975133 8705394 Il10 interleukin 10 gene DOID:8778 Crohn's disease ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21102463 8705394 Il10 interleukin 10 gene DOID:8778 Crohn's disease treatment ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:11113068|REF_RGD_ID:11049181 8705394 Il10 interleukin 10 gene DOID:8893 psoriasis onset ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-1082G>A (human) PMID:11298547|REF_RGD_ID:7829824 8705394 Il10 interleukin 10 gene DOID:8924 autoimmune thrombocytopenic purpura disease_progression ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-627C>A (human) PMID:25051072|REF_RGD_ID:11041894 8705394 Il10 interleukin 10 gene DOID:8924 autoimmune thrombocytopenic purpura disease_progression ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes:promoter:-1082A>G, -819C>T, -592C>A (human) PMID:22677268|REF_RGD_ID:11046267 8705394 Il10 interleukin 10 gene DOID:893 Wilson disease ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25002079 8705394 Il10 interleukin 10 gene DOID:8947 diabetic retinopathy ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:16696964|REF_RGD_ID:1598486 8705394 Il10 interleukin 10 gene DOID:8947 diabetic retinopathy ISO RGD:735591 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased tyrosine phosphorylation:vitreous humor PMID:18978347|REF_RGD_ID:2307061 8705394 Il10 interleukin 10 gene DOID:8947 diabetic retinopathy ISO RGD:735591 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:22105495|REF_RGD_ID:7364856 8705394 Il10 interleukin 10 gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:735591 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:18988929|REF_RGD_ID:2307272 8705394 Il10 interleukin 10 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:29691718|REF_RGD_ID:14975124 8705394 Il10 interleukin 10 gene DOID:9000099 Experimental Colitis ISO RGD:10785 D RGD:9068941 20200609 RGD associated with Helicobacter Infections PMID:16982822|REF_RGD_ID:11049170 8705394 Il10 interleukin 10 gene DOID:9000099 Experimental Colitis treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:27815529|REF_RGD_ID:14975260 8705394 Il10 interleukin 10 gene DOID:9000099 Experimental Colitis treatment ISO RGD:2886 D RGD:9068941 20220623 RGD PMID:25727887|PMID:29572553|REF_RGD_ID:11049485|REF_RGD_ID:152995414 8705394 Il10 interleukin 10 gene DOID:9000146 Plaque, Atherosclerotic ameliorates ISO RGD:10785 D RGD:9068941 20230831 RGD PMID:28062499|REF_RGD_ID:329955458 8705394 Il10 interleukin 10 gene DOID:9000173 Eye Burns treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:22553604|REF_RGD_ID:7364851 8705394 Il10 interleukin 10 gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19222424 8705394 Il10 interleukin 10 gene DOID:9000656 Penetrating Wounds ISO RGD:2886 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:26101070|REF_RGD_ID:11049529 8705394 Il10 interleukin 10 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:20406594|REF_RGD_ID:4140467 8705394 Il10 interleukin 10 gene DOID:9000855 Experimental Radiation Injuries ISO RGD:2886 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:23968122|REF_RGD_ID:11049496 8705394 Il10 interleukin 10 gene DOID:9000855 Experimental Radiation Injuries treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:23788042|REF_RGD_ID:7365012 8705394 Il10 interleukin 10 gene DOID:9000927 Alveolar Bone Loss treatment ISO RGD:2886 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:26270535|REF_RGD_ID:11049527 8705394 Il10 interleukin 10 gene DOID:9000927 Alveolar Bone Loss treatment ISO RGD:2886 D RGD:9068941 20230720 RGD associated with periodontal disease PMID:33364953|REF_RGD_ID:329956421 8705394 Il10 interleukin 10 gene DOID:9000945 Ventilator-Induced Lung Injury treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:22106021|PMID:23890086|REF_RGD_ID:11049495|REF_RGD_ID:7364989 8705394 Il10 interleukin 10 gene DOID:9000965 Neoplasm Metastasis ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:16035616|REF_RGD_ID:1598627 8705394 Il10 interleukin 10 gene DOID:9000998 Brain Injuries ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21549006 8705394 Il10 interleukin 10 gene DOID:9000998 Brain Injuries severity ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:23075771|REF_RGD_ID:7364822 8705394 Il10 interleukin 10 gene DOID:9000998 Brain Injuries treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:23971414|REF_RGD_ID:7364983 8705394 Il10 interleukin 10 gene DOID:9001004 Chronic Periodontitis ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:promoter:-592C>A, -819 C>T, -1082G>A (human) PMID:31055876|REF_RGD_ID:14975127 8705394 Il10 interleukin 10 gene DOID:9001044 Choroidal Neovascularization ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:16903779|REF_RGD_ID:7365068 8705394 Il10 interleukin 10 gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:22802947|REF_RGD_ID:7364853 8705394 Il10 interleukin 10 gene DOID:9001049 Staphylococcal Pneumonia ISO RGD:10785 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:22940620|REF_RGD_ID:7364825 8705394 Il10 interleukin 10 gene DOID:9001204 Dyspepsia ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-819C>A (rs1800871)(human) PMID:28965252|REF_RGD_ID:14975154 8705394 Il10 interleukin 10 gene DOID:9001204 Dyspepsia no_association ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-1082G>A (rs1800896)(human) PMID:28965252|REF_RGD_ID:14975154 8705394 Il10 interleukin 10 gene DOID:9001472 Nasal Polyps ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:22462754|REF_RGD_ID:7364835 8705394 Il10 interleukin 10 gene DOID:9001488 Human Influenza susceptibility ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:20200252|REF_RGD_ID:4140426 8705394 Il10 interleukin 10 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12632514|PMID:15362042|PMID:16097045|PMID:16126171|PMID:16539848|PMID:16552806|PMID:16609999|PMID:16688825|PMID:18251166 8705394 Il10 interleukin 10 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:23980370|PMID:24993843|REF_RGD_ID:11049490|REF_RGD_ID:7364982 8705394 Il10 interleukin 10 gene DOID:9001600 Wounds and Injuries ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:14715528|REF_RGD_ID:1598466 8705394 Il10 interleukin 10 gene DOID:9001708 Hemorrhagic Shock ISO RGD:2886 D RGD:9068941 20200609 RGD protein:increased expression:serum, lymph PMID:19160132|REF_RGD_ID:2311060 8705394 Il10 interleukin 10 gene DOID:9001981 Weight Loss ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:24314293|PMID:27580383 8705394 Il10 interleukin 10 gene DOID:9001995 Actinic Cheilitis ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:26723902|REF_RGD_ID:14975265 8705394 Il10 interleukin 10 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:21911118|REF_RGD_ID:7364839 8705394 Il10 interleukin 10 gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:735591 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphisms:promoter:g.-1082G>A, g.-819C>T, g.-592C>A (human) PMID:19031431|REF_RGD_ID:2308943 8705394 Il10 interleukin 10 gene DOID:9002211 Hyperalgesia ISO RGD:2886 D RGD:9068941 20200609 RGD associated with Sciatic Neuropathy PMID:23957449|REF_RGD_ID:7364792 8705394 Il10 interleukin 10 gene DOID:9002211 Hyperalgesia ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:17174526|PMID:7582491 8705394 Il10 interleukin 10 gene DOID:9002211 Hyperalgesia treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:22820166|REF_RGD_ID:7364827 8705394 Il10 interleukin 10 gene DOID:9002211 Hyperalgesia treatment ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:24077211|REF_RGD_ID:7364865 8705394 Il10 interleukin 10 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1800890, rs4072227, rs17015865 (human) PMID:19573080|REF_RGD_ID:11049165 8705394 Il10 interleukin 10 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia disease_progression ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:22945689|REF_RGD_ID:11041895 8705394 Il10 interleukin 10 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia disease_progression ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:10638947|REF_RGD_ID:11049174 8705394 Il10 interleukin 10 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia no_association ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:19573080|REF_RGD_ID:11049165 8705394 Il10 interleukin 10 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16284379|PMID:17999153|PMID:18174250 8705394 Il10 interleukin 10 gene DOID:9002311 Experimental Autoimmune Myocarditis treatment ISO RGD:2886 D RGD:9068941 20200910 RGD PMID:19907173|REF_RGD_ID:13702882 8705394 Il10 interleukin 10 gene DOID:9002457 Experimental Arthritis ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:19193354|REF_RGD_ID:2311059 8705394 Il10 interleukin 10 gene DOID:9002457 Experimental Arthritis ISO RGD:2886 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:19169271|REF_RGD_ID:8662976 8705394 Il10 interleukin 10 gene DOID:9002457 Experimental Arthritis ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:20974942|PMID:22450443 8705394 Il10 interleukin 10 gene DOID:9002457 Experimental Arthritis ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:15270736|REF_RGD_ID:1626677 8705394 Il10 interleukin 10 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:22052031|PMID:23140046|REF_RGD_ID:7193038|REF_RGD_ID:7364838 8705394 Il10 interleukin 10 gene DOID:9002720 Splenomegaly ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:19060266|REF_RGD_ID:7365027 8705394 Il10 interleukin 10 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:23872438|REF_RGD_ID:7364993 8705394 Il10 interleukin 10 gene DOID:9002805 Enterocolitis ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17574631 8705394 Il10 interleukin 10 gene DOID:9002850 Immediate Hypersensitivity ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20485159 8705394 Il10 interleukin 10 gene DOID:9002906 Multiple Organ Failure ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10479408 8705394 Il10 interleukin 10 gene DOID:9003610 Asthenopia ISO RGD:10785 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:20415740|REF_RGD_ID:7364861 8705394 Il10 interleukin 10 gene DOID:9003688 Toxoplasma Chorioretinitis ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:−1082G>A (human) PMID:18436829|REF_RGD_ID:7365046 8705394 Il10 interleukin 10 gene DOID:9003871 Venous Thrombosis susceptibility ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:16807647|REF_RGD_ID:1598472 8705394 Il10 interleukin 10 gene DOID:9004009 Reperfusion Injury ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:12388354|PMID:19514843|REF_RGD_ID:2308950|REF_RGD_ID:5508171 8705394 Il10 interleukin 10 gene DOID:9004009 Reperfusion Injury ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18460982 8705394 Il10 interleukin 10 gene DOID:9004009 Reperfusion Injury ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:16141682|REF_RGD_ID:1598625 8705394 Il10 interleukin 10 gene DOID:9004017 Chronic Hepatitis C ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-592C>A (rs1800872) (human) PMID:29247709|REF_RGD_ID:14975141 8705394 Il10 interleukin 10 gene DOID:9004017 Chronic Hepatitis C ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:26095186|REF_RGD_ID:14700655 8705394 Il10 interleukin 10 gene DOID:9004017 Chronic Hepatitis C no_association ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter: rs3021094, rs3024498 (human) PMID:29247709|REF_RGD_ID:14975141 8705394 Il10 interleukin 10 gene DOID:9004017 Chronic Hepatitis C susceptibility ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter: PMID:26095186|REF_RGD_ID:14700655 8705394 Il10 interleukin 10 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:735591 D RGD:9068941 20200813 RGD PMID:25708446|REF_RGD_ID:38456002 8705394 Il10 interleukin 10 gene DOID:9004283 Transplant Rejection treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:22564629|REF_RGD_ID:7364833 8705394 Il10 interleukin 10 gene DOID:9004283 Transplant Rejection treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:23870834|REF_RGD_ID:7364994 8705394 Il10 interleukin 10 gene DOID:9004283 Transplant Rejection treatment ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:17275523|REF_RGD_ID:11049523 8705394 Il10 interleukin 10 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:735591 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8705394 Il10 interleukin 10 gene DOID:9004422 Chagas Cardiomyopathy treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:24055715|REF_RGD_ID:7364866 8705394 Il10 interleukin 10 gene DOID:9004484 Sepsis ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:28108420|REF_RGD_ID:14975261 8705394 Il10 interleukin 10 gene DOID:9004484 Sepsis ISO RGD:2886 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19371254|REF_RGD_ID:2311053 8705394 Il10 interleukin 10 gene DOID:9004484 Sepsis ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11441115 8705394 Il10 interleukin 10 gene DOID:9004484 Sepsis treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:27488951|REF_RGD_ID:14975262 8705394 Il10 interleukin 10 gene DOID:9004484 Sepsis treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:24055021|REF_RGD_ID:7364867 8705394 Il10 interleukin 10 gene DOID:9004538 Hearing Loss treatment ISO RGD:10785 D RGD:9068941 20200609 RGD associated with Autoimmune Diseases PMID:21697956|REF_RGD_ID:7364842 8705394 Il10 interleukin 10 gene DOID:9004538 Hearing Loss treatment ISO RGD:2886 D RGD:9068941 20200609 RGD associated with Meningitis, Pneumococcal PMID:22644021|REF_RGD_ID:7364829 8705394 Il10 interleukin 10 gene DOID:9004590 Acute Liver Failure ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-1082A>G (rs1800896), -819T>C (rs1800871), -592A>C (rs1800872) (human) PMID:30109600|REF_RGD_ID:14975142 8705394 Il10 interleukin 10 gene DOID:9004610 Acute Lung Injury ISO RGD:2886 D RGD:9068941 20200609 RGD associated with Reperfusion Injury;protein:increased expression:lung, plasma PMID:23801594|REF_RGD_ID:7365008 8705394 Il10 interleukin 10 gene DOID:9004610 Acute Lung Injury ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-1082G>A (rs1800896) (human) PMID:30412745|REF_RGD_ID:14975158 8705394 Il10 interleukin 10 gene DOID:9004610 Acute Lung Injury no_association ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:rs3021097 (human) PMID:30412745|REF_RGD_ID:14975158 8705394 Il10 interleukin 10 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:23902576|REF_RGD_ID:7364984 8705394 Il10 interleukin 10 gene DOID:9004649 Heat Stroke ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24039931 8705394 Il10 interleukin 10 gene DOID:9004932 Eales Disease ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP, haplotype:promoter PMID:20720222|REF_RGD_ID:7364860 8705394 Il10 interleukin 10 gene DOID:9004945 Ocular Toxoplasmosis ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:19026704|REF_RGD_ID:7365028 8705394 Il10 interleukin 10 gene DOID:9005172 Lung Neoplasms ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14587096 8705394 Il10 interleukin 10 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14999141 8705394 Il10 interleukin 10 gene DOID:9005372 Inflammation ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:20304473|REF_RGD_ID:4140417 8705394 Il10 interleukin 10 gene DOID:9005372 Inflammation ISO RGD:10785 D RGD:9068941 20200609 RGD associated with Pneumonia PMID:20357828|REF_RGD_ID:4140420 8705394 Il10 interleukin 10 gene DOID:9005372 Inflammation ISO RGD:2886 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:23861957|REF_RGD_ID:7364996 8705394 Il10 interleukin 10 gene DOID:9005372 Inflammation ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11181422 8705394 Il10 interleukin 10 gene DOID:9005372 Inflammation ISO RGD:735591 D RGD:9068941 20200609 RGD associated with inflammatory bowel disease PMID:26802082|REF_RGD_ID:14975136 8705394 Il10 interleukin 10 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:18779928|REF_RGD_ID:2308946 8705394 Il10 interleukin 10 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2886 D RGD:9068941 20200609 RGD protein:increase expression:serum PMID:18787467|REF_RGD_ID:2308945 8705394 Il10 interleukin 10 gene DOID:9005647 Experimental Autoimmune Uveitis ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:18390724|REF_RGD_ID:7365052 8705394 Il10 interleukin 10 gene DOID:9005647 Experimental Autoimmune Uveitis disease_progression ISO RGD:2886 D RGD:9068941 20221222 RGD PMID:31209505|REF_RGD_ID:155791448 8705394 Il10 interleukin 10 gene DOID:9005647 Experimental Autoimmune Uveitis treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:16043105|PMID:18495789|REF_RGD_ID:7365044|REF_RGD_ID:7365069 8705394 Il10 interleukin 10 gene DOID:9005700 Airway Obstruction susceptibility ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNPs (human) PMID:17690329|REF_RGD_ID:4142510 8705394 Il10 interleukin 10 gene DOID:9005930 Endotoxemia ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:28664613|REF_RGD_ID:14975137 8705394 Il10 interleukin 10 gene DOID:9005930 Endotoxemia ISO RGD:2886 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19302852|REF_RGD_ID:2311055 8705394 Il10 interleukin 10 gene DOID:9005930 Endotoxemia treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:27943364|REF_RGD_ID:14975170 8705394 Il10 interleukin 10 gene DOID:9005936 Gastro-Enteropancreatic Neuroendocrine Tumor ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915428 8705394 Il10 interleukin 10 gene DOID:9005941 Rhinosinusitis ISO RGD:735591 D RGD:9068941 20200609 RGD protein:decreased expression:blood, mononuclear cell PMID:23168151|REF_RGD_ID:7364820 8705394 Il10 interleukin 10 gene DOID:9005968 Neuralgia ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:16949747|REF_RGD_ID:1598632 8705394 Il10 interleukin 10 gene DOID:9005968 Neuralgia treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:25078297|REF_RGD_ID:11049468 8705394 Il10 interleukin 10 gene DOID:9005968 Neuralgia treatment ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:24077211|REF_RGD_ID:7364865 8705394 Il10 interleukin 10 gene DOID:9006205 Animal Disease Models ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27580383|PMID:28411859 8705394 Il10 interleukin 10 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:28664613|REF_RGD_ID:14975137 8705394 Il10 interleukin 10 gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:24079335|REF_RGD_ID:7364864 8705394 Il10 interleukin 10 gene DOID:9006549 Enterovirus Infections severity ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-592A>C (rs1800872) (human) PMID:28843383|REF_RGD_ID:14975146 8705394 Il10 interleukin 10 gene DOID:9006623 Murine Acquired Immunodeficiency Syndrome ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:23415673|REF_RGD_ID:7364815 8705394 Il10 interleukin 10 gene DOID:9006642 Experimental Autoimmune Uveoretinitis ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:11359436|PMID:15240742|REF_RGD_ID:7365075|REF_RGD_ID:7365084 8705394 Il10 interleukin 10 gene DOID:9006642 Experimental Autoimmune Uveoretinitis treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:22629453|REF_RGD_ID:7364830 8705394 Il10 interleukin 10 gene DOID:9006642 Experimental Autoimmune Uveoretinitis treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:21296818|REF_RGD_ID:7364849 8705394 Il10 interleukin 10 gene DOID:9006644 Retroviridae Infections ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:11369878|REF_RGD_ID:11049463 8705394 Il10 interleukin 10 gene DOID:9006709 Primary Graft Dysfunction treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:21911153|REF_RGD_ID:11049478 8705394 Il10 interleukin 10 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:735591 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:31557154 8705394 Il10 interleukin 10 gene DOID:9006945 Diabetic Cardiomyopathies treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:23843977|REF_RGD_ID:7247697 8705394 Il10 interleukin 10 gene DOID:9006966 Pseudomonas Aeruginosa Keratitis treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:23878501|REF_RGD_ID:7364804 8705394 Il10 interleukin 10 gene DOID:9007096 Stroke ISO RGD:2886 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:23981596|REF_RGD_ID:7364869 8705394 Il10 interleukin 10 gene DOID:9007096 Stroke no_association ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:16323614|REF_RGD_ID:1598623 8705394 Il10 interleukin 10 gene DOID:9007096 Stroke severity ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:15894335|REF_RGD_ID:1598629 8705394 Il10 interleukin 10 gene DOID:9007096 Stroke treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:23786953|REF_RGD_ID:7365015 8705394 Il10 interleukin 10 gene DOID:9007204 Dysbiosis treatment ISO RGD:2886 D RGD:9068941 20200903 RGD PMID:32227764|REF_RGD_ID:38549571 8705394 Il10 interleukin 10 gene DOID:9007329 Human Viral Hepatitis ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-1082A>G (rs1800896), -819T>C (rs1800871), -592A>C (rs1800872) (human) PMID:30109600|REF_RGD_ID:14975142 8705394 Il10 interleukin 10 gene DOID:9007558 Acute Experimental Pancreatitis ISO RGD:2886 D RGD:9068941 20250123 RGD protein:increased expression:serum PMID:19399939|REF_RGD_ID:2306925 8705394 Il10 interleukin 10 gene DOID:9007558 Acute Experimental Pancreatitis treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:25323753|REF_RGD_ID:11049477 8705394 Il10 interleukin 10 gene DOID:9007651 Chronic Bronchitis ISO RGD:2886 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:19507274|REF_RGD_ID:2308951 8705394 Il10 interleukin 10 gene DOID:9007730 Burns ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18277951 8705394 Il10 interleukin 10 gene DOID:9007730 Burns treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:22341647|REF_RGD_ID:11049470 8705394 Il10 interleukin 10 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2886 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19275881|REF_RGD_ID:2311056 8705394 Il10 interleukin 10 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:23840272|REF_RGD_ID:7365001 8705394 Il10 interleukin 10 gene DOID:9007871 Malignant Pleural Effusions ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:30695099|REF_RGD_ID:14975123 8705394 Il10 interleukin 10 gene DOID:9008103 Seasonal Allergic Rhinitis treatment ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:19505388|REF_RGD_ID:7365025 8705394 Il10 interleukin 10 gene DOID:9008208 Heparin-induced Thrombocytopenia ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:repeats, haplotype:promoter PMID:22239992|REF_RGD_ID:11049164 8705394 Il10 interleukin 10 gene DOID:9008208 Heparin-induced Thrombocytopenia no_association ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:rs1800896 (-1082G/A), rs1800871 (-819C/T), rs1800872 (-592C/A) (human) PMID:22239992|REF_RGD_ID:11049164 8705394 Il10 interleukin 10 gene DOID:9008227 Pregnancy-associated Malaria ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:24717969|REF_RGD_ID:11041890 8705394 Il10 interleukin 10 gene DOID:9008261 Chemically-Induced Disorders ISO RGD:735591 D RGD:9068941 20230907 CTD CTD Direct Evidence: marker/mechanism PMID:36108500 8705394 Il10 interleukin 10 gene DOID:9008763 Femoral Fractures ISO RGD:2886 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21442011|REF_RGD_ID:5131471 8705394 Il10 interleukin 10 gene DOID:9008865 Entamoebiasis ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16374615 8705394 Il10 interleukin 10 gene DOID:9008885 Staphylococcal Infections treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:23993644|REF_RGD_ID:7364979 8705394 Il10 interleukin 10 gene DOID:9008939 Breast Neoplasms ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29582634 8705394 Il10 interleukin 10 gene DOID:9065 leishmaniasis ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16540374|PMID:20404924 8705394 Il10 interleukin 10 gene DOID:9074 systemic lupus erythematosus ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19838195|PMID:20728533 8705394 Il10 interleukin 10 gene DOID:9074 systemic lupus erythematosus ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:12486603|REF_RGD_ID:1580478 8705394 Il10 interleukin 10 gene DOID:9111 cutaneous leishmaniasis ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20102417 8705394 Il10 interleukin 10 gene DOID:9111 cutaneous leishmaniasis ISO RGD:735591 D RGD:9068941 20200806 RGD mRNA:increased expression:Peripheral blood mononuclear cell: PMID:29205403|REF_RGD_ID:38455981 8705394 Il10 interleukin 10 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:23357299|REF_RGD_ID:11046264 8705394 Il10 interleukin 10 gene DOID:9146 visceral leishmaniasis ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15716043|PMID:17404324|PMID:22461696 8705394 Il10 interleukin 10 gene DOID:9146 visceral leishmaniasis ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:29745990|REF_RGD_ID:14975172 8705394 Il10 interleukin 10 gene DOID:916 liver benign neoplasm treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:25168696|REF_RGD_ID:11049493 8705394 Il10 interleukin 10 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:735591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8705394 Il10 interleukin 10 gene DOID:9351 diabetes mellitus ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:22802947|REF_RGD_ID:7364853 8705394 Il10 interleukin 10 gene DOID:9352 type 2 diabetes mellitus ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:28843383|REF_RGD_ID:14975146 8705394 Il10 interleukin 10 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter:g.-1082G>A, g.-819C>T, g.-592C>A (human) PMID:19031431|REF_RGD_ID:2308943 8705394 Il10 interleukin 10 gene DOID:9408 acute myocardial infarction ameliorates ISO RGD:2886 D RGD:9068941 20230420 RGD PMID:32068187|REF_RGD_ID:267358468 8705394 Il10 interleukin 10 gene DOID:9452 steatotic liver disease ISO RGD:2886 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus PMID:18267346|REF_RGD_ID:2308948 8705394 Il10 interleukin 10 gene DOID:9478 postpartum depression ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:17033197|REF_RGD_ID:1598630 8705394 Il10 interleukin 10 gene DOID:9498 pulmonary eosinophilia ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:20796249|REF_RGD_ID:4140455 8705394 Il10 interleukin 10 gene DOID:9538 multiple myeloma ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP, polymorphisms:promoter:-1082G>A, (human) PMID:11307152|REF_RGD_ID:11041888 8705394 Il10 interleukin 10 gene DOID:9538 multiple myeloma disease_progression ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:11022130|REF_RGD_ID:11049458 8705394 Il10 interleukin 10 gene DOID:9663 aphthous stomatitis ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-1082G>A (rs1800896) (human) PMID:27266194|REF_RGD_ID:14975145 8705394 Il10 interleukin 10 gene DOID:9744 type 1 diabetes mellitus ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19430480 8705394 Il10 interleukin 10 gene DOID:9744 type 1 diabetes mellitus ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:17997340|REF_RGD_ID:2308949 8705394 Il10 interleukin 10 gene DOID:9778 irritable bowel syndrome ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12404228 8705394 Il10 interleukin 10 gene DOID:9784 trichinosis ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:23465441|REF_RGD_ID:11049476 8705394 Il10 interleukin 10 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:735591 D RGD:9068941 20200609 RGD protein:decreased expression:blood PMID:21653647|REF_RGD_ID:11049158 8705394 Il10 interleukin 10 gene DOID:9952 acute lymphoblastic leukemia treatment ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:15860861|REF_RGD_ID:11049169 8705394 Il10 interleukin 10 gene DOID:9970 obesity ISO RGD:2886 D RGD:9068941 20200609 RGD protein:increase expression:serum PMID:18787467|REF_RGD_ID:2308945 8705394 Il10 interleukin 10 gene DOID:9970 obesity ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:28843383|REF_RGD_ID:14975146 8705403 Rpap2 RNA polymerase II associated protein 2 gene DOID:0112131 severe congenital neutropenia 2 ISO RGD:1602679 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant PMID:28492532 8705403 Rpap2 RNA polymerase II associated protein 2 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1602679 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:28492532 8705437 Cdca2 cell division cycle associated 2 gene DOID:0080600 COVID-19 ISO RGD:1322226 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8705437 Cdca2 cell division cycle associated 2 gene DOID:0110165 Charcot-Marie-Tooth disease type 2E ISO RGD:1322226 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2E PMID:19158810|PMID:20039262|PMID:28492532 8705437 Cdca2 cell division cycle associated 2 gene DOID:2661 myoepithelioma ISO RGD:1322226 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 8705437 Cdca2 cell division cycle associated 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1322226 D RGD:9068941 20240912 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8705467 Alkbh3 alkB homolog 3, alpha-ketoglutarate dependent dioxygenase gene DOID:1059 intellectual disability ISO RGD:1606677 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8705484 Ttc33 tetratricopeptide repeat domain 33 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606815 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8705499 Znf180 zinc finger protein 180 gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1348239 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 8705508 Pcdh10 protocadherin 10 gene DOID:12849 autistic disorder ISO RGD:1348202 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18621663 8705529 Tmem139 transmembrane protein 139 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1602298 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26213588 8705540 Nme8 NME/NM23 family member 8 gene DOID:0110606 primary ciliary dyskinesia 6 ISO RGD:1344206 D RGD:7240710 20180130 OMIM 8705540 Nme8 NME/NM23 family member 8 gene DOID:0110606 primary ciliary dyskinesia 6 ISO RGD:1344206 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 6 PMID:16199547|PMID:17360648|PMID:17576681|PMID:20301301|PMID:22499950|PMID:24033266|PMID:25741868|PMID:28106320|PMID:28492532|PMID:9536098 8705540 Nme8 NME/NM23 family member 8 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1344206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8705540 Nme8 NME/NM23 family member 8 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1344206 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:16199547|PMID:17360648|PMID:20301301|PMID:22499950|PMID:24033266|PMID:25741868|PMID:28106320|PMID:28492532 8705561 Jph3 junctophilin 3 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1318170 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 8705561 Jph3 junctophilin 3 gene DOID:0090104 Huntington's disease-like 2 ISO RGD:1318170 D RGD:7240710 20180130 OMIM 8705561 Jph3 junctophilin 3 gene DOID:0090104 Huntington's disease-like 2 ISO RGD:1318170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Huntington disease-like 2 | ClinVar Annotator: match by term: JPH3-related condition PMID:25741868|PMID:28492532 8705561 Jph3 junctophilin 3 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1318170 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 8705561 Jph3 junctophilin 3 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1318170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 8705561 Jph3 junctophilin 3 gene DOID:13636 Fanconi anemia ISO RGD:1318170 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 8705561 Jph3 junctophilin 3 gene DOID:14780 KBG syndrome ISO RGD:1318170 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:31690835 8705561 Jph3 junctophilin 3 gene DOID:630 genetic disease ISO RGD:1318170 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8705561 Jph3 junctophilin 3 gene DOID:9002957 CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO ISO RGD:1318170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carbonic anhydrase VA deficiency, hyperammonemia due to PMID:24530203|PMID:26913920|PMID:28492532 8705561 Jph3 junctophilin 3 gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1318170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 8705561 Jph3 junctophilin 3 gene DOID:9007980 Sleep Deprivation ISO RGD:1318171 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:18077435|REF_RGD_ID:6480426 8705561 Jph3 junctophilin 3 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1318170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17892325 8705570 Armcx4 armadillo repeat containing X-linked 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347581 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8705570 Armcx4 armadillo repeat containing X-linked 4 gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1347581 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:28492532 8705570 Armcx4 armadillo repeat containing X-linked 4 gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:1347581 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 8705570 Armcx4 armadillo repeat containing X-linked 4 gene DOID:0111823 autosomal hemophilia A ISO RGD:1347581 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A PMID:31690835 8705570 Armcx4 armadillo repeat containing X-linked 4 gene DOID:12134 factor VIII deficiency ISO RGD:1347581 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Factor 8 deficiency, congenital PMID:31690835 8705570 Armcx4 armadillo repeat containing X-linked 4 gene DOID:12849 autistic disorder ISO RGD:1347581 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8705616 Redic1 regulator of DNA class I crossover intermediates 1 gene DOID:0111910 spermatogenic failure ISO RGD:1606924 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Spermatogenic Failure 8705649 Trappc10 trafficking protein particle complex subunit 10 gene DOID:0060341 agnathia-otocephaly complex ISO RGD:1621362 D RGD:9068941 20220825 MouseDO OMIM:202650 8705649 Trappc10 trafficking protein particle complex subunit 10 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1322626 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:25839329|PMID:28492532|PMID:8596935 8705649 Trappc10 trafficking protein particle complex subunit 10 gene DOID:0110266 cataract 9 multiple types ISO RGD:1322626 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 8705649 Trappc10 trafficking protein particle complex subunit 10 gene DOID:1059 intellectual disability ISO RGD:1322626 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:30167849|PMID:35298461 8705649 Trappc10 trafficking protein particle complex subunit 10 gene DOID:12583 velocardiofacial syndrome ISO RGD:1621362 D RGD:9068941 20220825 MouseDO OMIM:192430 8705649 Trappc10 trafficking protein particle complex subunit 10 gene DOID:12849 autistic disorder ISO RGD:1322626 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8705649 Trappc10 trafficking protein particle complex subunit 10 gene DOID:37 skin disease ISO RGD:1322626 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 8705649 Trappc10 trafficking protein particle complex subunit 10 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1322626 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 8705649 Trappc10 trafficking protein particle complex subunit 10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322626 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8705649 Trappc10 trafficking protein particle complex subunit 10 gene DOID:9007964 Arsenic Poisoning ISO RGD:1322626 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 8705649 Trappc10 trafficking protein particle complex subunit 10 gene DOID:9008994 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SHORT STATURE, AND SPEECH DELAY ISO RGD:1322626 D RGD:7240710 20230719 OMIM 8705649 Trappc10 trafficking protein particle complex subunit 10 gene DOID:9008994 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SHORT STATURE, AND SPEECH DELAY ISO RGD:1322626 D RGD:8554872 20230725 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, short stature, and speech delay PMID:25741868|PMID:30167849|PMID:35298461 8705649 Trappc10 trafficking protein particle complex subunit 10 gene DOID:9263 homocystinuria ISO RGD:1322626 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 8705649 Trappc10 trafficking protein particle complex subunit 10 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1322626 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8705676 Mfsd14a major facilitator superfamily domain containing 14A gene DOID:9269 maple syrup urine disease ISO RGD:1313218 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:28492532 8705713 Chka choline kinase alpha gene DOID:0050912 colon adenoma ISO RGD:1604072 D RGD:9068941 20200609 RGD protein:increased expression:colonic mucosa (human) PMID:10363580|REF_RGD_ID:10401945 8705713 Chka choline kinase alpha gene DOID:0061060 immunodeficiency 90 ISO RGD:1604072 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8705713 Chka choline kinase alpha gene DOID:0080016 spina bifida ISO RGD:1604072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17184542 8705713 Chka choline kinase alpha gene DOID:1059 intellectual disability ISO RGD:1604072 D RGD:8554872 20240402 ClinVar ClinVar Annotator: match by term: Intellectual disability 8705713 Chka choline kinase alpha gene DOID:1826 epilepsy ISO RGD:1604072 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:35202461 8705713 Chka choline kinase alpha gene DOID:219 colon cancer ISO RGD:61944 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:colon (rat) PMID:10622531|REF_RGD_ID:10401869 8705713 Chka choline kinase alpha gene DOID:224 transient cerebral ischemia ISO RGD:61944 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex (rat) PMID:16300643|REF_RGD_ID:10401831 8705713 Chka choline kinase alpha gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1604072 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8705713 Chka choline kinase alpha gene DOID:9008781 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, MOVEMENT ABNORMALITIES, AND SEIZURES ISO RGD:1604072 D RGD:8554872 20240402 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures PMID:25741868|PMID:35202461 8705732 Tas2r3 taste 2 receptor member 3 gene DOID:0080132 Sengers syndrome ISO RGD:1345631 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Sengers syndrome PMID:22284826|PMID:28492532 8705732 Tas2r3 taste 2 receptor member 3 gene DOID:0080690 RASopathy ISO RGD:1345631 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 8705732 Tas2r3 taste 2 receptor member 3 gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1345631 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary pancreatitis PMID:25741868 8705741 St3gal4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 gene DOID:0070614 chromosome 11 partial duplication syndrome ISO RGD:1353529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8705741 St3gal4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1353529 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 8705741 St3gal4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1353529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 8705741 St3gal4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 gene DOID:5419 schizophrenia ISO RGD:1353529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8705741 St3gal4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1353529 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 8705741 St3gal4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 gene DOID:9006549 Enterovirus Infections ISO RGD:1353529 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28446605 8705741 St3gal4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 gene DOID:9007661 Dwarfism ISO RGD:1353529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8705787 CUNH16orf96 chromosome unknown C16orf96 homolog gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:5487050 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8705787 CUNH16orf96 chromosome unknown C16orf96 homolog gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:5487050 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:28492532 8705787 CUNH16orf96 chromosome unknown C16orf96 homolog gene DOID:1826 epilepsy ISO RGD:5487050 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8705787 CUNH16orf96 chromosome unknown C16orf96 homolog gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:5487050 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17855048|PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 8705787 CUNH16orf96 chromosome unknown C16orf96 homolog gene DOID:9009315 Idiopathic Generalized Epilepsy ISO RGD:5487050 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8705810 Cysrt1 cysteine rich tail 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1603334 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 8705810 Cysrt1 cysteine rich tail 1 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1603334 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 8705810 Cysrt1 cysteine rich tail 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1603334 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8705810 Cysrt1 cysteine rich tail 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1603334 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 8705810 Cysrt1 cysteine rich tail 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1603334 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 8705810 Cysrt1 cysteine rich tail 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1603334 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8705810 Cysrt1 cysteine rich tail 1 gene DOID:1826 epilepsy ISO RGD:1603334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8705810 Cysrt1 cysteine rich tail 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1603334 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8705816 Kcnh5 potassium voltage-gated channel subfamily H member 5 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:731415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:17576681|PMID:23647072|PMID:24133262|PMID:25741868|PMID:28166811|PMID:28492532|PMID:9536098 8705816 Kcnh5 potassium voltage-gated channel subfamily H member 5 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:731415 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:21270786|PMID:23647072|PMID:24133262|PMID:25741868|PMID:25974703|PMID:26467025|PMID:28492532|PMID:31440721|PMID:32725632|PMID:33057194|PMID:35874597|PMID:36307226|PMID:38008000|PMID:9536098 8705816 Kcnh5 potassium voltage-gated channel subfamily H member 5 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:731415 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 PMID:23647072|PMID:24133262|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31440721|PMID:32725632|PMID:34136434|PMID:35874597|PMID:36307226|PMID:38008000 8705816 Kcnh5 potassium voltage-gated channel subfamily H member 5 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:731415 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:21270786|PMID:23647072|PMID:24133262|PMID:25741868|PMID:25974703|PMID:26467025|PMID:28492532|PMID:31440721|PMID:32725632|PMID:33057194|PMID:35874597|PMID:36307226|PMID:38008000|PMID:9536098 8705816 Kcnh5 potassium voltage-gated channel subfamily H member 5 gene DOID:1826 epilepsy ISO RGD:731415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizures PMID:28492532 8705816 Kcnh5 potassium voltage-gated channel subfamily H member 5 gene DOID:630 genetic disease ISO RGD:731415 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23647072|PMID:24133262|PMID:25741868|PMID:28492532|PMID:31440721|PMID:32725632|PMID:34136434|PMID:35874597|PMID:36307226 8705816 Kcnh5 potassium voltage-gated channel subfamily H member 5 gene DOID:9002059 Developmental and Epileptic Encephalopathy 112 ISO RGD:731415 D RGD:7240710 20231018 OMIM 8705816 Kcnh5 potassium voltage-gated channel subfamily H member 5 gene DOID:9002059 Developmental and Epileptic Encephalopathy 112 ISO RGD:731415 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 112 PMID:23647072|PMID:24133262|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31440721|PMID:32725632|PMID:35874597|PMID:36307226|PMID:38008000 8705831 Ccnf cyclin F gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:736837 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:22277662|PMID:24033266|PMID:24848745|PMID:25741868|PMID:26371875|PMID:26467025|PMID:27259978|PMID:27281533|PMID:28301460|PMID:28492532|PMID:28951997|PMID:29358611|PMID:30866059 8705831 Ccnf cyclin F gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:736837 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8705831 Ccnf cyclin F gene DOID:0110532 autosomal recessive nonsyndromic deafness 86 ISO RGD:736837 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 86 PMID:22277662|PMID:24033266|PMID:24848745|PMID:25741868|PMID:26371875|PMID:26467025|PMID:27259978|PMID:27281533|PMID:28301460|PMID:28492532|PMID:28951997|PMID:29358611 8705831 Ccnf cyclin F gene DOID:0110586 autosomal dominant nonsyndromic deafness 65 ISO RGD:736837 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 65 PMID:22277662|PMID:24033266|PMID:24848745|PMID:25741868|PMID:26371875|PMID:26467025|PMID:27259978|PMID:27281533|PMID:28301460|PMID:28492532|PMID:28951997|PMID:29358611 8705831 Ccnf cyclin F gene DOID:1389 polyneuropathy ISO RGD:736837 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polyneuropathy PMID:25741868 8705831 Ccnf cyclin F gene DOID:1826 epilepsy ISO RGD:736837 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Seizures PMID:22277662|PMID:24033266|PMID:24848745|PMID:25741868|PMID:26371875|PMID:26467025|PMID:27259978|PMID:27281533|PMID:28301460|PMID:28492532|PMID:29358611 8705831 Ccnf cyclin F gene DOID:1826 epilepsy ISO RGD:736837 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8705831 Ccnf cyclin F gene DOID:308 early myoclonic encephalopathy ISO RGD:736837 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile PMID:22277662|PMID:24033266|PMID:24848745|PMID:25741868|PMID:26371875|PMID:26467025|PMID:27259978|PMID:27281533|PMID:28301460|PMID:28492532|PMID:28951997|PMID:29358611 8705831 Ccnf cyclin F gene DOID:332 amyotrophic lateral sclerosis ISO RGD:736837 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 8705831 Ccnf cyclin F gene DOID:630 genetic disease ISO RGD:736837 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22277662|PMID:24033266|PMID:24848745|PMID:25741868|PMID:26371875|PMID:26467025|PMID:27259978|PMID:27281533|PMID:28301460|PMID:28492532|PMID:28951997|PMID:29358611 8705831 Ccnf cyclin F gene DOID:684 hepatocellular carcinoma ISO RGD:736837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8705831 Ccnf cyclin F gene DOID:9005996 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis-5 ISO RGD:736837 D RGD:7240710 20210113 OMIM 8705831 Ccnf cyclin F gene DOID:9005996 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis-5 ISO RGD:736837 D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: CCNF-related condition | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 5 PMID:25741868|PMID:27080313|PMID:28281833|PMID:28492532|PMID:31577344 8705831 Ccnf cyclin F gene DOID:9007063 Myoclonic Epilepsy, Familial Infantile ISO RGD:736837 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Familial infantile myoclonic epilepsy PMID:22277662|PMID:24033266|PMID:24848745|PMID:25741868|PMID:26371875|PMID:26467025|PMID:27259978|PMID:27281533|PMID:28301460|PMID:28492532|PMID:28951997|PMID:29358611 8705831 Ccnf cyclin F gene DOID:9009315 Idiopathic Generalized Epilepsy ISO RGD:736837 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8705831 Ccnf cyclin F gene DOID:9255 frontotemporal dementia ISO RGD:736837 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia 8705851 Igsf9 immunoglobulin superfamily member 9 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1312078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 8705851 Igsf9 immunoglobulin superfamily member 9 gene DOID:1540 parathyroid carcinoma ISO RGD:1312078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8705851 Igsf9 immunoglobulin superfamily member 9 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8705892 Magi1 membrane associated guanylate kinase, WW and PDZ domain containing 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1322871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 8705892 Magi1 membrane associated guanylate kinase, WW and PDZ domain containing 1 gene DOID:4928 intrahepatic cholangiocarcinoma disease_progression ISO RGD:1322871 D RGD:9068941 20220708 RGD protein:increased expression:intrahepatic bile duct (human) PMID:30377796|REF_RGD_ID:152998946 8705951 Nup42 nucleoporin 42 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1344412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8705962 Sec11c SEC11 homolog C, signal peptidase complex subunit gene DOID:0060842 isolated microphthalmia 3 ISO RGD:1348413 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 3 PMID:14662654|PMID:18783408|PMID:19935664|PMID:21778431|PMID:24033328|PMID:26686525|PMID:28492532 8705962 Sec11c SEC11 homolog C, signal peptidase complex subunit gene DOID:0111988 immunodeficiency 12 ISO RGD:1348413 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency PMID:28492532 8705999 Znf74 zinc finger protein 74 gene DOID:0060041 autism spectrum disorder ISO RGD:1353341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 8705999 Znf74 zinc finger protein 74 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1353341 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 8705999 Znf74 zinc finger protein 74 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1353341 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:25741868|PMID:31690835 8705999 Znf74 zinc finger protein 74 gene DOID:1059 intellectual disability ISO RGD:1353341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8705999 Znf74 zinc finger protein 74 gene DOID:11198 DiGeorge syndrome ISO RGD:1353341 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 8705999 Znf74 zinc finger protein 74 gene DOID:11372 megacolon ISO RGD:1353341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8705999 Znf74 zinc finger protein 74 gene DOID:12583 velocardiofacial syndrome ISO RGD:1353341 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 8705999 Znf74 zinc finger protein 74 gene DOID:12849 autistic disorder ISO RGD:1353341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8705999 Znf74 zinc finger protein 74 gene DOID:1826 epilepsy ISO RGD:1353341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8705999 Znf74 zinc finger protein 74 gene DOID:2213 hemorrhagic disease ISO RGD:1353341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 8705999 Znf74 zinc finger protein 74 gene DOID:5419 schizophrenia ISO RGD:1353341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8705999 Znf74 zinc finger protein 74 gene DOID:612 primary immunodeficiency disease ISO RGD:1353341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 8705999 Znf74 zinc finger protein 74 gene DOID:9003871 Venous Thrombosis ISO RGD:1353341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:25741868|PMID:31064749 8705999 Znf74 zinc finger protein 74 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8706008 Gsap gamma-secretase activating protein gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8706008 Gsap gamma-secretase activating protein gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:1604809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 8706064 Nalf2 NALCN channel auxiliary factor 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8706064 Nalf2 NALCN channel auxiliary factor 2 gene DOID:0111823 autosomal hemophilia A ISO RGD:1350785 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A PMID:31690835 8706064 Nalf2 NALCN channel auxiliary factor 2 gene DOID:12134 factor VIII deficiency ISO RGD:1350785 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Factor 8 deficiency, congenital PMID:31690835 8706064 Nalf2 NALCN channel auxiliary factor 2 gene DOID:12849 autistic disorder ISO RGD:1350785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8706071 Cdca5 cell division cycle associated 5 gene DOID:0080600 COVID-19 ISO RGD:1350338 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8706071 Cdca5 cell division cycle associated 5 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1350338 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8706071 Cdca5 cell division cycle associated 5 gene DOID:1059 intellectual disability ISO RGD:1350338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8706071 Cdca5 cell division cycle associated 5 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1350338 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8706071 Cdca5 cell division cycle associated 5 gene DOID:2746 glycogen storage disease V ISO RGD:1350338 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8706071 Cdca5 cell division cycle associated 5 gene DOID:684 hepatocellular carcinoma ISO RGD:1350338 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8706130 Abca12 ATP binding cassette subfamily A member 12 gene DOID:0060655 autosomal recessive congenital ichthyosis ISO RGD:1312110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Congenital ichthyosis of skin | ClinVar Annotator: match by term: Lamellar ichthyosis PMID:15756637|PMID:17508018|PMID:19262603|PMID:20849526|PMID:25741868|PMID:28492532 8706130 Abca12 ATP binding cassette subfamily A member 12 gene DOID:0060655 autosomal recessive congenital ichthyosis ISO RGD:1312110 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Congenital ichthyosis of skin | ClinVar Annotator: match by term: Lamellar ichthyosis PMID:12915478|PMID:15756637|PMID:16007253|PMID:17508018|PMID:17576681|PMID:17684380|PMID:19262603|PMID:20672373|PMID:20849526|PMID:21729033|PMID:22992804|PMID:25741868|PMID:25766764|PMID:26740202|PMID:27025581|PMID:27769845|PMID:28492532|PMID:28851938|PMID:30600594|PMID:30916489|PMID:31168818|PMID:31586585|PMID:32293521|PMID:32707200|PMID:34908195|PMID:36262015|PMID:36980989|PMID:9536098 8706130 Abca12 ATP binding cassette subfamily A member 12 gene DOID:0060656 autosomal recessive congenital ichthyosis 1 ISO RGD:1312110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16675967 8706130 Abca12 ATP binding cassette subfamily A member 12 gene DOID:0060656 autosomal recessive congenital ichthyosis 1 susceptibility ISO RGD:1312110 D RGD:9068941 20200609 RGD PMID:12915478|REF_RGD_ID:1598548 8706130 Abca12 ATP binding cassette subfamily A member 12 gene DOID:0060712 autosomal recessive congenital ichthyosis 4A ISO RGD:1312110 D RGD:7240710 20180130 OMIM 8706130 Abca12 ATP binding cassette subfamily A member 12 gene DOID:0060712 autosomal recessive congenital ichthyosis 4A ISO RGD:1312110 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: ABCA12-related condition | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 4A PMID:10094194|PMID:12915478|PMID:15756637|PMID:16007253|PMID:16199547|PMID:16902423|PMID:19262603|PMID:19664001|PMID:20672373|PMID:21168995|PMID:21729033|PMID:22257947|PMID:22992804|PMID:23528209|PMID:25741868|PMID:27025581|PMID:27848944|PMID:28295493|PMID:28492532|PMID:28851938|PMID:29298786|PMID:29722424|PMID:29880184|PMID:29887490|PMID:30578701|PMID:30600594|PMID:30916489|PMID:31168818|PMID:32293521|PMID:32707200|PMID:32851342|PMID:32901917|PMID:34908195|PMID:36980989|PMID:8845852 8706130 Abca12 ATP binding cassette subfamily A member 12 gene DOID:0060713 autosomal recessive congenital ichthyosis 4B ISO RGD:1312110 D RGD:7240710 20180130 OMIM 8706130 Abca12 ATP binding cassette subfamily A member 12 gene DOID:0060713 autosomal recessive congenital ichthyosis 4B ISO RGD:1312110 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 4B | ClinVar Annotator: match by term: Ichthyosis, congenital, autosomal recessive 4B (harlequin) PMID:10094194|PMID:12915478|PMID:15756637|PMID:16902423|PMID:17684380|PMID:19262603|PMID:19664001|PMID:20672373|PMID:21729033|PMID:22992804|PMID:25741868|PMID:26740202|PMID:28492532|PMID:28851938|PMID:29543227|PMID:29880184|PMID:30578701|PMID:30916489|PMID:31168818|PMID:31586585|PMID:32293521|PMID:32707200|PMID:34906502|PMID:35216886|PMID:36980989 8706130 Abca12 ATP binding cassette subfamily A member 12 gene DOID:1697 ichthyosis ISO RGD:1312110 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Ichthyosis PMID:25741868 8706130 Abca12 ATP binding cassette subfamily A member 12 gene DOID:630 genetic disease ISO RGD:1312110 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8706130 Abca12 ATP binding cassette subfamily A member 12 gene DOID:9002801 Recurrence ISO RGD:1312110 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35837087 8706130 Abca12 ATP binding cassette subfamily A member 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8706130 Abca12 ATP binding cassette subfamily A member 12 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1312110 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35837087 8706130 Abca12 ATP binding cassette subfamily A member 12 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1312110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 8706130 Abca12 ATP binding cassette subfamily A member 12 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1312110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:28492532 8706130 Abca12 ATP binding cassette subfamily A member 12 gene DOID:936 brain disease ISO RGD:1312110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy PMID:25741868 8706190 Kmt2b lysine methyltransferase 2B gene DOID:0050861 colorectal adenocarcinoma ISO RGD:1605411 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:22713656|REF_RGD_ID:9588601 8706190 Kmt2b lysine methyltransferase 2B gene DOID:0060041 autism spectrum disorder ISO RGD:1605411 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:28492532 8706190 Kmt2b lysine methyltransferase 2B gene DOID:0060936 dystonia 28, childhood-onset ISO RGD:1605411 D RGD:7240710 20190315 OMIM 8706190 Kmt2b lysine methyltransferase 2B gene DOID:0060936 dystonia 28, childhood-onset ISO RGD:1605411 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Dystonia 28, childhood-onset | ClinVar Annotator: match by term: KMT2B-related condition PMID:25741868|PMID:25741878|PMID:27839873|PMID:27992417|PMID:28492532|PMID:28520167|PMID:29697234|PMID:29758562|PMID:31216378|PMID:32581362|PMID:32860008|PMID:33098801|PMID:33150406|PMID:33619735 8706190 Kmt2b lysine methyltransferase 2B gene DOID:0061041 autosomal dominant intellectual developmental disorder 68 ISO RGD:1605411 D RGD:7240710 20220720 OMIM 8706190 Kmt2b lysine methyltransferase 2B gene DOID:0061041 autosomal dominant intellectual developmental disorder 68 ISO RGD:1605411 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 68 PMID:25741868|PMID:27839873|PMID:27992417|PMID:28492532|PMID:33150406 8706190 Kmt2b lysine methyltransferase 2B gene DOID:0110222 Brugada syndrome 5 ISO RGD:1605411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 8706190 Kmt2b lysine methyltransferase 2B gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1605411 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 8706190 Kmt2b lysine methyltransferase 2B gene DOID:0111152 multicentric Castleman disease ISO RGD:1605411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: TAFRO syndrome 8706190 Kmt2b lysine methyltransferase 2B gene DOID:10283 prostate cancer ISO RGD:1605411 D RGD:9068941 20200609 RGD mRNA:decreased expression:prostate gland (human) PMID:24200674|REF_RGD_ID:9587761 8706190 Kmt2b lysine methyltransferase 2B gene DOID:1059 intellectual disability ISO RGD:1605411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532 8706190 Kmt2b lysine methyltransferase 2B gene DOID:12849 autistic disorder ISO RGD:1605411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism 8706190 Kmt2b lysine methyltransferase 2B gene DOID:13580 cholestasis ISO RGD:1623920 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (mouse) PMID:21330447|REF_RGD_ID:9588602 8706190 Kmt2b lysine methyltransferase 2B gene DOID:1612 breast cancer severity ISO RGD:1605411 D RGD:9068941 20200609 RGD mRNA:increased expression:breast (human) PMID:24491801|REF_RGD_ID:9588564 8706190 Kmt2b lysine methyltransferase 2B gene DOID:543 dystonia ISO RGD:1605411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362|PMID:33150406 8706190 Kmt2b lysine methyltransferase 2B gene DOID:630 genetic disease ISO RGD:1605411 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25405613|PMID:25741868|PMID:27839873|PMID:27992417|PMID:28492532|PMID:29758562|PMID:31216378|PMID:33150406 8706190 Kmt2b lysine methyltransferase 2B gene DOID:684 hepatocellular carcinoma ISO RGD:1605411 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22634754 8706190 Kmt2b lysine methyltransferase 2B gene DOID:684 hepatocellular carcinoma ISO RGD:1605411 D RGD:9068941 20200609 RGD DNA:insertions, translocations:intron:IVS3, multiple (human) PMID:18320596|REF_RGD_ID:9588597 8706190 Kmt2b lysine methyltransferase 2B gene DOID:9000965 Neoplasm Metastasis ISO RGD:1605411 D RGD:9068941 20211119 RGD associated with lung adenocarcinoma PMID:33291558|REF_RGD_ID:150429741 8706190 Kmt2b lysine methyltransferase 2B gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1605411 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868|PMID:28492532|PMID:29255178 8706190 Kmt2b lysine methyltransferase 2B gene DOID:9001722 Dysarthria ISO RGD:1605411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysarthria PMID:25741868|PMID:27992417|PMID:32581362 8706190 Kmt2b lysine methyltransferase 2B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605411 D RGD:8554872 20241231 ClinVar ClinVar Annotator: match by term: Complex neurodevelopmental disorder with motor features PMID:25741868|PMID:33150406 8706190 Kmt2b lysine methyltransferase 2B gene DOID:9008086 Developmental Disabilities ISO RGD:1605411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741878 8706190 Kmt2b lysine methyltransferase 2B gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:1623920 D RGD:9068941 20200609 RGD PMID:25079327|REF_RGD_ID:9588599 8706237 Tsc22d2 TSC22 domain family member 2 gene DOID:0050579 glycogen storage disease XV ISO RGD:1602336 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 8706237 Tsc22d2 TSC22 domain family member 2 gene DOID:10126 keratoconus ISO RGD:1602336 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Keratoconus 8706244 Dsg2 desmoglein 2 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1322446 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Arrhythmogenic cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia PMID:16025435|PMID:16199547|PMID:16505173|PMID:16773573|PMID:16774985|PMID:17105751|PMID:17372169|PMID:18382419|PMID:18632414|PMID:18678517|PMID:18813333|PMID:19039334|PMID:19151369|PMID:19358943|PMID:19569224|PMID:19863551|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:2040044|PMID:20400443|PMID:20603720|PMID:20708101|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22214898|PMID:23071725|PMID:23299917|PMID:23381804|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24238504|PMID:24436435|PMID:24503780|PMID:24704780|PMID:25087486|PMID:25172079|PMID:25213555|PMID:25332820|PMID:25445213|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25765472|PMID:25820315|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26899768|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28255936|PMID:28283360|PMID:28341588|PMID:28492532|PMID:28578331|PMID:28818065|PMID:29038103|PMID:29062102|PMID:29178656|PMID:29544605|PMID:30454721|PMID:30790397|PMID:30885746|PMID:31019283|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31568572 8706244 Dsg2 desmoglein 2 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1322446 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC PMID:12586364|PMID:16025435|PMID:16199547|PMID:16505173|PMID:16773573|PMID:16774985|PMID:17105751|PMID:17372169|PMID:18382419|PMID:18632414|PMID:18678517|PMID:18813333|PMID:19039334|PMID:19151369|PMID:19358943|PMID:19569224|PMID:19863551|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:2040044|PMID:20400443|PMID:20603720|PMID:20708101|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22214898|PMID:23071725|PMID:23137101|PMID:23299917|PMID:23381804|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24238504|PMID:24436435|PMID:24503780|PMID:24704780|PMID:24967631|PMID:25087486|PMID:25172079|PMID:25213555|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25765472|PMID:25820315|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26688388|PMID:26899768|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28255936|PMID:28283360|PMID:28323875|PMID:28341588|PMID:28471438|PMID:28492532|PMID:28578331|PMID:28818065|PMID:28878402|PMID:29038103|PMID:29062102|PMID:29178656|PMID:29343803|PMID:29396286|PMID:29544605|PMID:29606362|PMID:29759408|PMID:30177324|PMID:30454721|PMID:30790397|PMID:30847666|PMID:30885746|PMID:31019283|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31542937|PMID:31568572|PMID:31645976|PMID:31845994|PMID:31983221|PMID:32746448|PMID:32877757|PMID:32880476|PMID:33232181|PMID:33652588|PMID:33673806|PMID:33919104|PMID:34012299|PMID:34036930|PMID:34317382|PMID:35087879|PMID:35300203 8706244 Dsg2 desmoglein 2 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1322446 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia PMID:12586364|PMID:16025435|PMID:16199547|PMID:16505173|PMID:16773573|PMID:16774985|PMID:17105751|PMID:17372169|PMID:17576681|PMID:18382419|PMID:18632414|PMID:18678517|PMID:18813333|PMID:19039334|PMID:19151369|PMID:19279339|PMID:19358943|PMID:19569224|PMID:19863551|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:2040044|PMID:20400443|PMID:20603720|PMID:20708101|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22214898|PMID:22458570|PMID:23071725|PMID:23137101|PMID:23178689|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24125834|PMID:24238504|PMID:24436435|PMID:24503780|PMID:24704780|PMID:24967631|PMID:25087486|PMID:25172079|PMID:25174650|PMID:25209314|PMID:25213555|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25525159|PMID:25616645|PMID:25637381|PMID:2569966|PMID:25741868|PMID:25765472|PMID:25819062|PMID:25820315|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26272908|PMID:26296472|PMID:26498160|PMID:26633542|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26850880|PMID:26899768|PMID:27055156|PMID:27114410|PMID:271711|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28283360|PMID:28323875|PMID:28341588|PMID:28416588|PMID:28454995|PMID:28471438|PMID:28492532|PMID:28567303|PMID:28578331|PMID:28588093|PMID:28600387|PMID:28818065|PMID:28878402|PMID:29016939|PMID:29038103|PMID:29062102|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29343803|PMID:29396286|PMID:29456632|PMID:29517769|PMID:29544605|PMID:29566126|PMID:29606362|PMID:29750433|PMID:29759408|PMID:29773157|PMID:29790872|PMID:29802319|PMID:29899727|PMID:30129429|PMID:30165862|PMID:30177324|PMID:30391969|PMID:30454721|PMID:30471092|PMID:30533233|PMID:30615648|PMID:30731207|PMID:30790397|PMID:30830208|PMID:30847666|PMID:30885746|PMID:30919572|PMID:30975432|PMID:30985088|PMID:30993396|PMID:30996762|PMID:31019283|PMID:31183845|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31542937|PMID:31568572|PMID:31638835|PMID:31645976|PMID:31655555|PMID:31702781|PMID:31737537|PMID:31845994|PMID:31983221|PMID:32041989|PMID:32102357|PMID:32114801|PMID:32268277|PMID:32516855|PMID:32659924|PMID:32665702|PMID:32682410|PMID:32686758|PMID:32746448|PMID:32826072|PMID:32877757|PMID:32880476|PMID:33029862|PMID:33087929|PMID:33232181|PMID:33238575|PMID:33460606|PMID:33552729|PMID:33652588|PMID:33673806|PMID:33762593|PMID:33821670|PMID:33919104|PMID:33949662|PMID:33968641|PMID:34012299|PMID:34036930|PMID:34317382|PMID:34426522|PMID:34428338|PMID:34500006|PMID:34998950|PMID:35026164|PMID:35087879|PMID:35300203|PMID:35653365|PMID:35819174|PMID:36138163|PMID:36621286|PMID:36837563|PMID:37328711|PMID:37418234|PMID:37477868|PMID:9536098 8706244 Dsg2 desmoglein 2 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1322446 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Right ventricular cardiomyopathy PMID:12586364|PMID:16025435|PMID:16199547|PMID:16505173|PMID:16773573|PMID:16774985|PMID:17105751|PMID:17372169|PMID:17576681|PMID:18382419|PMID:18632414|PMID:18678517|PMID:18813333|PMID:19039334|PMID:19151369|PMID:19279339|PMID:19358943|PMID:19569224|PMID:19863551|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:2040044|PMID:20400443|PMID:20603720|PMID:20708101|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22214898|PMID:22458570|PMID:23071725|PMID:23137101|PMID:23178689|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24125834|PMID:24238504|PMID:24436435|PMID:24503780|PMID:24704780|PMID:24967631|PMID:25087486|PMID:25172079|PMID:25174650|PMID:25209314|PMID:25213555|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25525159|PMID:25616645|PMID:25637381|PMID:2569966|PMID:25741868|PMID:25765472|PMID:25819062|PMID:25820315|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26272908|PMID:26296472|PMID:26498160|PMID:26633542|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26850880|PMID:26899768|PMID:27055156|PMID:27114410|PMID:271711|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28087566|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28283360|PMID:28323875|PMID:28341588|PMID:28416588|PMID:28454995|PMID:28471438|PMID:28472724|PMID:28492532|PMID:28567303|PMID:28578331|PMID:28588093|PMID:28600387|PMID:28818065|PMID:28878402|PMID:29016939|PMID:29038103|PMID:29062102|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29343803|PMID:29396286|PMID:29456632|PMID:29517769|PMID:29544605|PMID:29566126|PMID:29606362|PMID:29750433|PMID:29759408|PMID:29773157|PMID:29790872|PMID:29802319|PMID:29899727|PMID:30129429|PMID:30165862|PMID:30177324|PMID:30391969|PMID:30454721|PMID:30471092|PMID:30533233|PMID:30615648|PMID:30731207|PMID:30790397|PMID:30830208|PMID:30847666|PMID:30885746|PMID:30919572|PMID:30975432|PMID:30985088|PMID:30993396|PMID:30996762|PMID:31019283|PMID:31183845|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31542937|PMID:31568572|PMID:31638835|PMID:31645976|PMID:31655555|PMID:31702781|PMID:31737537|PMID:31845994|PMID:31983221|PMID:32041989|PMID:32102357|PMID:32114801|PMID:32268277|PMID:32516855|PMID:32659924|PMID:32665702|PMID:32682410|PMID:32686758|PMID:32746448|PMID:32826072|PMID:32877757|PMID:32880476|PMID:33029862|PMID:33087929|PMID:33232181|PMID:33238575|PMID:33460606|PMID:33552729|PMID:33652588|PMID:33673806|PMID:33762593|PMID:33821670|PMID:33919104|PMID:33949662|PMID:33968641|PMID:34012299|PMID:34036930|PMID:34317382|PMID:34426522|PMID:34428338|PMID:34500006|PMID:34998950|PMID:35026164|PMID:35087879|PMID:35300203|PMID:35653365|PMID:35819174|PMID:36138163|PMID:36621286|PMID:36837563|PMID:37328711|PMID:37418234|PMID:37477868|PMID:9536098 8706244 Dsg2 desmoglein 2 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1322446 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia PMID:12586364|PMID:16025435|PMID:16199547|PMID:16505173|PMID:16773573|PMID:16774985|PMID:17105751|PMID:17372169|PMID:17576681|PMID:18382419|PMID:18632414|PMID:18678517|PMID:18813333|PMID:19039334|PMID:19151369|PMID:19279339|PMID:19358943|PMID:19569224|PMID:19863551|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:2040044|PMID:20400443|PMID:20603720|PMID:20708101|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22214898|PMID:22458570|PMID:23071725|PMID:23137101|PMID:23178689|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24086444|PMID:24125834|PMID:24238504|PMID:24436435|PMID:24503780|PMID:24585727|PMID:24618965|PMID:24704780|PMID:24967631|PMID:25087486|PMID:25172079|PMID:25174650|PMID:25209314|PMID:25213555|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25525159|PMID:25616645|PMID:25637381|PMID:2569966|PMID:25741868|PMID:25765472|PMID:25819062|PMID:25820315|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26272908|PMID:26296472|PMID:26498160|PMID:26585103|PMID:26633542|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26850880|PMID:26899768|PMID:27055156|PMID:27114410|PMID:271711|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28087566|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28283360|PMID:28288337|PMID:28323875|PMID:28341588|PMID:28416588|PMID:28454995|PMID:28471438|PMID:28472724|PMID:28492532|PMID:28567303|PMID:28578331|PMID:28588093|PMID:28600387|PMID:28818065|PMID:28878402|PMID:29016939|PMID:29038103|PMID:29062102|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29343803|PMID:29396286|PMID:29456632|PMID:29517769|PMID:29544605|PMID:29566126|PMID:29606362|PMID:29750433|PMID:29759408|PMID:29773157|PMID:29790872|PMID:29802319|PMID:29899727|PMID:30129429|PMID:30165862|PMID:30177324|PMID:30391969|PMID:30454721|PMID:30471092|PMID:30533233|PMID:30615648|PMID:30731207|PMID:30790397|PMID:30830208|PMID:30847666|PMID:30885746|PMID:30919572|PMID:30975432|PMID:30985088|PMID:30993396|PMID:30996762|PMID:31019283|PMID:31156706|PMID:31183845|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31542937|PMID:31568572|PMID:31638835|PMID:31645976|PMID:31655555|PMID:31702781|PMID:31737537|PMID:31845994|PMID:31983221|PMID:32041989|PMID:32102357|PMID:32114801|PMID:32268277|PMID:32516855|PMID:32522011|PMID:32659924|PMID:32665702|PMID:32682410|PMID:32686758|PMID:32746448|PMID:32826072|PMID:32877757|PMID:32880476|PMID:33029862|PMID:33087929|PMID:33232181|PMID:33238575|PMID:33460606|PMID:33552729|PMID:33652588|PMID:33673806|PMID:33684294|PMID:33762593|PMID:33821670|PMID:33919104|PMID:33949662|PMID:33968641|PMID:34012299|PMID:34036930|PMID:34317382|PMID:34400560|PMID:34426522|PMID:34428338|PMID:34500006|PMID:34998950|PMID:35026164|PMID:35087879|PMID:35300203|PMID:35352813|PMID:35653365|PMID:35819174|PMID:35941102|PMID:36138163|PMID:36264615|PMID:36357925|PMID:36621286|PMID:36837563|PMID:37288269|PMID:37328711|PMID:37418234|PMID:37477868|PMID:39227800|PMID:39253717|PMID:9536098 8706244 Dsg2 desmoglein 2 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ameliorates ISO RGD:1322447 D RGD:9068941 20231102 RGD PMID:32376797|REF_RGD_ID:401851071 8706244 Dsg2 desmoglein 2 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy severity ISO RGD:1322446 D RGD:9068941 20231102 RGD PMID:30239670|REF_RGD_ID:401851076 8706244 Dsg2 desmoglein 2 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy susceptibility ISO RGD:1322446 D RGD:9068941 20231102 RGD DNA:mutation:cds: p.Phe531Cys(human) PMID:30454721|REF_RGD_ID:401851081 8706244 Dsg2 desmoglein 2 gene DOID:0050638 transthyretin amyloidosis ISO RGD:1322446 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Amyloid Cardiomyopathy, Transthyretin-related | ClinVar Annotator: match by term: Familial Transthyretin Amyloidosis PMID:28492532 8706244 Dsg2 desmoglein 2 gene DOID:0050700 cardiomyopathy ISO RGD:1322446 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:16025435|PMID:16199547|PMID:16505173|PMID:16773573|PMID:16774985|PMID:17105751|PMID:17372169|PMID:17576681|PMID:18382419|PMID:18632414|PMID:18639457|PMID:18678517|PMID:18813333|PMID:19039334|PMID:19279339|PMID:19358943|PMID:19569224|PMID:19863551|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20603720|PMID:20708101|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21220045|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22214898|PMID:22458570|PMID:23071725|PMID:23178689|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24125834|PMID:24238504|PMID:24436435|PMID:24503780|PMID:24704780|PMID:25059832|PMID:25087486|PMID:25172079|PMID:25174650|PMID:25213555|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25637381|PMID:25741868|PMID:25765472|PMID:25820315|PMID:25877686|PMID:26112015|PMID:26138720|PMID:26230511|PMID:26633542|PMID:26656175|PMID:26822237|PMID:26899768|PMID:27005929|PMID:27055156|PMID:27114410|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28087566|PMID:28166811|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28454995|PMID:28471438|PMID:28492532|PMID:28567303|PMID:28578331|PMID:28600387|PMID:28818065|PMID:29038103|PMID:29062102|PMID:29178656|PMID:29773157|PMID:29802319|PMID:30454721|PMID:30533233|PMID:30615648|PMID:30731207|PMID:30790397|PMID:30885746|PMID:30985088|PMID:30993396|PMID:31019283|PMID:31333075|PMID:31402444|PMID:31542937|PMID:31568572|PMID:31638835|PMID:33087929|PMID:9536098 8706244 Dsg2 desmoglein 2 gene DOID:0050700 cardiomyopathy ISO RGD:1322446 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:16025435|PMID:16199547|PMID:16505173|PMID:16773573|PMID:16774985|PMID:17105751|PMID:17372169|PMID:17576681|PMID:18382419|PMID:18632414|PMID:18639457|PMID:18678517|PMID:18813333|PMID:19039334|PMID:19358943|PMID:19569224|PMID:19863551|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20603720|PMID:20708101|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21220045|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22214898|PMID:22458570|PMID:23071725|PMID:23178689|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24125834|PMID:24238504|PMID:24436435|PMID:24503780|PMID:24704780|PMID:25059832|PMID:25087486|PMID:25172079|PMID:25174650|PMID:25213555|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25637381|PMID:25741868|PMID:25765472|PMID:25820315|PMID:25877686|PMID:26112015|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26633542|PMID:26656175|PMID:26822237|PMID:26899768|PMID:27005929|PMID:27055156|PMID:27114410|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28087566|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28454995|PMID:28492532|PMID:28567303|PMID:28578331|PMID:28600387|PMID:28818065|PMID:29038103|PMID:29062102|PMID:29178656|PMID:29456632|PMID:29773157|PMID:29802319|PMID:30391969|PMID:30454721|PMID:30533233|PMID:30615648|PMID:30731207|PMID:30790397|PMID:30885746|PMID:30985088|PMID:30993396|PMID:31019283|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31568572|PMID:31638835|PMID:31737537|PMID:31983221|PMID:32659924|PMID:33087929|PMID:33238575|PMID:9536098 8706244 Dsg2 desmoglein 2 gene DOID:0050700 cardiomyopathy ISO RGD:1322446 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:16025435|PMID:16199547|PMID:16505173|PMID:16773573|PMID:16774985|PMID:17105751|PMID:17372169|PMID:17576681|PMID:18382419|PMID:18632414|PMID:18639457|PMID:18678517|PMID:18813333|PMID:19039334|PMID:19358943|PMID:19569224|PMID:19863551|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20603720|PMID:20708101|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21220045|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22214898|PMID:22458570|PMID:23071725|PMID:23178689|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24125834|PMID:24238504|PMID:24436435|PMID:24503780|PMID:24704780|PMID:25059832|PMID:25087486|PMID:25172079|PMID:25174650|PMID:25209314|PMID:25213555|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25637381|PMID:25741868|PMID:25765472|PMID:25820315|PMID:25877686|PMID:26112015|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26633542|PMID:26656175|PMID:26822237|PMID:26899768|PMID:27005929|PMID:27055156|PMID:27114410|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28087566|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28454995|PMID:28492532|PMID:28567303|PMID:28578331|PMID:28600387|PMID:28818065|PMID:29038103|PMID:29062102|PMID:29178656|PMID:29456632|PMID:29773157|PMID:29802319|PMID:30391969|PMID:30454721|PMID:30533233|PMID:30615648|PMID:30731207|PMID:30790397|PMID:30885746|PMID:30985088|PMID:30993396|PMID:31019283|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31568572|PMID:31638835|PMID:31737537|PMID:31983221|PMID:32659924|PMID:33087929|PMID:33238575|PMID:33652588|PMID:33949662|PMID:35087879|PMID:9536098 8706244 Dsg2 desmoglein 2 gene DOID:0050700 cardiomyopathy ISO RGD:1322446 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:12586364|PMID:16025435|PMID:16199547|PMID:16505173|PMID:16773573|PMID:16774985|PMID:17105751|PMID:17372169|PMID:17576681|PMID:18382419|PMID:18632414|PMID:18639457|PMID:18678517|PMID:18813333|PMID:19039334|PMID:19151369|PMID:19279339|PMID:19358943|PMID:19569224|PMID:19863551|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20603720|PMID:20708101|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21220045|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22214898|PMID:22458570|PMID:23071725|PMID:23137101|PMID:23178689|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24125834|PMID:24238504|PMID:24436435|PMID:24503780|PMID:24704780|PMID:24967631|PMID:25059832|PMID:25087486|PMID:25172079|PMID:25174650|PMID:25209314|PMID:25213555|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25765472|PMID:25820315|PMID:25877686|PMID:26112015|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26633542|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26850880|PMID:26899768|PMID:27005929|PMID:27055156|PMID:27114410|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28087566|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28323875|PMID:28341588|PMID:28416588|PMID:28454995|PMID:28471438|PMID:28492532|PMID:28567303|PMID:28578331|PMID:28588093|PMID:28600387|PMID:28818065|PMID:28878402|PMID:29038103|PMID:29062102|PMID:29178656|PMID:29192238|PMID:29343803|PMID:29396286|PMID:29456632|PMID:29517769|PMID:29606362|PMID:29759408|PMID:29773157|PMID:29802319|PMID:29899727|PMID:30391969|PMID:30454721|PMID:30471092|PMID:30533233|PMID:30615648|PMID:30731207|PMID:30790397|PMID:30847666|PMID:30885746|PMID:30919572|PMID:30975432|PMID:30985088|PMID:30993396|PMID:31019283|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31542937|PMID:31568572|PMID:31638835|PMID:31645976|PMID:31737537|PMID:31845994|PMID:31983221|PMID:32102357|PMID:32516855|PMID:32659924|PMID:32665702|PMID:32746448|PMID:32880476|PMID:33029862|PMID:33087929|PMID:33232181|PMID:33238575|PMID:33652588|PMID:33673806|PMID:33949662|PMID:34012299|PMID:34036930|PMID:34317382|PMID:35087879|PMID:35300203|PMID:35819174|PMID:9536098 8706244 Dsg2 desmoglein 2 gene DOID:0050700 cardiomyopathy ISO RGD:1322446 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:12586364|PMID:16025435|PMID:16199547|PMID:16505173|PMID:16773573|PMID:16774985|PMID:17105751|PMID:17372169|PMID:17576681|PMID:18382419|PMID:18632414|PMID:18639457|PMID:18678517|PMID:18813333|PMID:19039334|PMID:19151369|PMID:19279339|PMID:19358943|PMID:19569224|PMID:19863551|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20603720|PMID:20708101|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21220045|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22214898|PMID:22458570|PMID:23071725|PMID:23137101|PMID:23178689|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24125834|PMID:24238504|PMID:24436435|PMID:24503780|PMID:24704780|PMID:24967631|PMID:25059832|PMID:25087486|PMID:25172079|PMID:25174650|PMID:25209314|PMID:25213555|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25765472|PMID:25820315|PMID:25877686|PMID:26112015|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26498160|PMID:26633542|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26850880|PMID:26899768|PMID:27005929|PMID:27055156|PMID:27114410|PMID:27135274|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28087566|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28323875|PMID:28341588|PMID:28416588|PMID:28454995|PMID:28471438|PMID:28492532|PMID:28567303|PMID:28578331|PMID:28588093|PMID:28600387|PMID:28818065|PMID:28878402|PMID:29016939|PMID:29038103|PMID:29062102|PMID:29178656|PMID:29192238|PMID:29343803|PMID:29396286|PMID:29456632|PMID:29517769|PMID:29606362|PMID:29759408|PMID:29773157|PMID:29802319|PMID:29899727|PMID:30177324|PMID:30391969|PMID:30454721|PMID:30471092|PMID:30533233|PMID:30615648|PMID:30731207|PMID:30790397|PMID:30847666|PMID:30885746|PMID:30919572|PMID:30975432|PMID:30985088|PMID:30993396|PMID:31019283|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31542937|PMID:31568572|PMID:31638835|PMID:31645976|PMID:31737537|PMID:31845994|PMID:31983221|PMID:32041989|PMID:32102357|PMID:32268277|PMID:32516855|PMID:32659924|PMID:32665702|PMID:32682410|PMID:32746448|PMID:32877757|PMID:32880476|PMID:33029862|PMID:33087929|PMID:33232181|PMID:33238575|PMID:33652588|PMID:33673806|PMID:33919104|PMID:33949662|PMID:34012299|PMID:34036930|PMID:34137518|PMID:34317382|PMID:34426522|PMID:35087879|PMID:35300203|PMID:35819174|PMID:9536098 8706244 Dsg2 desmoglein 2 gene DOID:0050700 cardiomyopathy ISO RGD:1322446 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:12586364|PMID:16025435|PMID:16199547|PMID:16505173|PMID:16773573|PMID:16774985|PMID:17105751|PMID:17372169|PMID:17576681|PMID:18382419|PMID:18632414|PMID:18639457|PMID:18678517|PMID:18813333|PMID:19039334|PMID:19151369|PMID:19279339|PMID:19358943|PMID:19569224|PMID:19863551|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20603720|PMID:20708101|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21220045|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22214898|PMID:22458570|PMID:23071725|PMID:23137101|PMID:23178689|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24125834|PMID:24238504|PMID:24436435|PMID:24503780|PMID:24704780|PMID:24967631|PMID:25059832|PMID:25087486|PMID:25172079|PMID:25174650|PMID:25209314|PMID:25213555|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25525159|PMID:25637381|PMID:2569966|PMID:25741868|PMID:25765472|PMID:25820315|PMID:25877686|PMID:26112015|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26272908|PMID:26498160|PMID:26633542|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26850880|PMID:26899768|PMID:27005929|PMID:27055156|PMID:27114410|PMID:27135274|PMID:271711|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28074886|PMID:28087566|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28323875|PMID:28341588|PMID:28416588|PMID:28454995|PMID:28471438|PMID:28492532|PMID:28567303|PMID:28578331|PMID:28588093|PMID:28600387|PMID:28818065|PMID:28878402|PMID:29016939|PMID:29038103|PMID:29062102|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29343803|PMID:29396286|PMID:29456632|PMID:29517769|PMID:29566126|PMID:29606362|PMID:29750433|PMID:29759408|PMID:29773157|PMID:29802319|PMID:29899727|PMID:30129429|PMID:30165862|PMID:30177324|PMID:30391969|PMID:30454721|PMID:30471092|PMID:30533233|PMID:30615648|PMID:30731207|PMID:30790397|PMID:30830208|PMID:30847666|PMID:30885746|PMID:30919572|PMID:30975432|PMID:30985088|PMID:30993396|PMID:31019283|PMID:31024045|PMID:31042466|PMID:31156706|PMID:31183845|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31542937|PMID:31568572|PMID:31638835|PMID:31645976|PMID:31702781|PMID:31737537|PMID:31845994|PMID:31983221|PMID:32041989|PMID:32102357|PMID:32114801|PMID:32268277|PMID:32516855|PMID:32659924|PMID:32665702|PMID:32682410|PMID:32746448|PMID:32826072|PMID:32877757|PMID:32880476|PMID:33029862|PMID:33087929|PMID:33232181|PMID:33238575|PMID:33460606|PMID:33552729|PMID:33652588|PMID:33673806|PMID:33762593|PMID:33821670|PMID:33919104|PMID:33949662|PMID:33968641|PMID:34012299|PMID:34036930|PMID:34137518|PMID:34317382|PMID:34426522|PMID:34428338|PMID:34500006|PMID:34998950|PMID:35026164|PMID:35087879|PMID:35300203|PMID:35819174|PMID:36138163|PMID:36360260|PMID:36621286|PMID:36837563|PMID:37418234|PMID:37477868|PMID:9536098 8706244 Dsg2 desmoglein 2 gene DOID:0050700 cardiomyopathy ISO RGD:1322446 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:12586364|PMID:16025435|PMID:16199547|PMID:16505173|PMID:16773573|PMID:16774985|PMID:17105751|PMID:17372169|PMID:17576681|PMID:18382419|PMID:18632414|PMID:18639457|PMID:18678517|PMID:18813333|PMID:19039334|PMID:19151369|PMID:19279339|PMID:19358943|PMID:19569224|PMID:19863551|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20603720|PMID:20708101|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21220045|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22214898|PMID:22458570|PMID:23071725|PMID:23137101|PMID:23178689|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24125834|PMID:24238504|PMID:24436435|PMID:24503780|PMID:24704780|PMID:24967631|PMID:25059832|PMID:25087486|PMID:25172079|PMID:25174650|PMID:25209314|PMID:25213555|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25525159|PMID:25637381|PMID:2569966|PMID:25741868|PMID:25765472|PMID:25820315|PMID:25877686|PMID:26112015|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26272908|PMID:26498160|PMID:26633542|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26850880|PMID:26899768|PMID:27005929|PMID:27055156|PMID:27114410|PMID:27135274|PMID:271711|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28074886|PMID:28087566|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28323875|PMID:28341588|PMID:28416588|PMID:28454995|PMID:28471438|PMID:28492532|PMID:28567303|PMID:28578331|PMID:28588093|PMID:28600387|PMID:28818065|PMID:28878402|PMID:29016939|PMID:29038103|PMID:29062102|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29343803|PMID:29396286|PMID:29456632|PMID:29517769|PMID:29566126|PMID:29606362|PMID:29750433|PMID:29759408|PMID:29773157|PMID:29802319|PMID:29899727|PMID:30129429|PMID:30165862|PMID:30177324|PMID:30391969|PMID:30454721|PMID:30471092|PMID:30533233|PMID:30615648|PMID:30731207|PMID:30790397|PMID:30830208|PMID:30847666|PMID:30885746|PMID:30919572|PMID:30975432|PMID:30985088|PMID:30993396|PMID:30996762|PMID:31019283|PMID:31024045|PMID:31156706|PMID:31183845|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31542937|PMID:31568572|PMID:31638835|PMID:31645976|PMID:31655555|PMID:31702781|PMID:31737537|PMID:31845994|PMID:31983221|PMID:32041989|PMID:32102357|PMID:32114801|PMID:32268277|PMID:32516855|PMID:32659924|PMID:32665702|PMID:32682410|PMID:32686758|PMID:32746448|PMID:32826072|PMID:32877757|PMID:32880476|PMID:33029862|PMID:33087929|PMID:33232181|PMID:33238575|PMID:33460606|PMID:33552729|PMID:33652588|PMID:33673806|PMID:33762593|PMID:33821670|PMID:33919104|PMID:33949662|PMID:33968641|PMID:34012299|PMID:34036930|PMID:34137518|PMID:34317382|PMID:34426522|PMID:34428338|PMID:34500006|PMID:34998950|PMID:35026164|PMID:35087879|PMID:35300203|PMID:35653365|PMID:35819174|PMID:36138163|PMID:36360260|PMID:36621286|PMID:36837563|PMID:37328711|PMID:37418234|PMID:37477868|PMID:9536098 8706244 Dsg2 desmoglein 2 gene DOID:0050700 cardiomyopathy ISO RGD:1322446 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:12586364|PMID:16025435|PMID:16199547|PMID:16505173|PMID:16773573|PMID:16774985|PMID:17105751|PMID:17372169|PMID:17576681|PMID:18382419|PMID:18632414|PMID:18639457|PMID:18678517|PMID:18813333|PMID:19039334|PMID:19151369|PMID:19279339|PMID:19358943|PMID:19569224|PMID:19863551|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20603720|PMID:20708101|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21220045|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22214898|PMID:22458570|PMID:23071725|PMID:23137101|PMID:23178689|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24125834|PMID:24238504|PMID:24436435|PMID:24503780|PMID:24704780|PMID:24967631|PMID:25059832|PMID:25087486|PMID:25172079|PMID:25174650|PMID:25209314|PMID:25213555|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25637381|PMID:2569966|PMID:25741868|PMID:25765472|PMID:25820315|PMID:25877686|PMID:26112015|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26272908|PMID:26498160|PMID:26633542|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26850880|PMID:26899768|PMID:27005929|PMID:27055156|PMID:27114410|PMID:27135274|PMID:271711|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28074886|PMID:28087566|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28323875|PMID:28341588|PMID:28416588|PMID:28454995|PMID:28471438|PMID:28492532|PMID:28567303|PMID:28578331|PMID:28588093|PMID:28600387|PMID:28818065|PMID:28878402|PMID:29016939|PMID:29038103|PMID:29062102|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29343803|PMID:29396286|PMID:29456632|PMID:29517769|PMID:29566126|PMID:29606362|PMID:29750433|PMID:29759408|PMID:29773157|PMID:29802319|PMID:29899727|PMID:30129429|PMID:30165862|PMID:30177324|PMID:30391969|PMID:30454721|PMID:30471092|PMID:30533233|PMID:30615648|PMID:30731207|PMID:30790397|PMID:30830208|PMID:30847666|PMID:30885746|PMID:30919572|PMID:30975432|PMID:30985088|PMID:30993396|PMID:30996762|PMID:31019283|PMID:31024045|PMID:31156706|PMID:31183845|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31542937|PMID:31568572|PMID:31638835|PMID:31645976|PMID:31655555|PMID:31702781|PMID:31737537|PMID:31845994|PMID:31983221|PMID:32041989|PMID:32102357|PMID:32114801|PMID:32268277|PMID:32516855|PMID:32659924|PMID:32665702|PMID:32682410|PMID:32686758|PMID:32746448|PMID:32826072|PMID:32877757|PMID:32880476|PMID:33029862|PMID:33087929|PMID:33232181|PMID:33238575|PMID:33460606|PMID:33552729|PMID:33652588|PMID:33673806|PMID:33762593|PMID:33821670|PMID:33919104|PMID:33949662|PMID:33968641|PMID:34012299|PMID:34036930|PMID:34137518|PMID:34317382|PMID:34426522|PMID:34428338|PMID:34500006|PMID:34998950|PMID:35026164|PMID:35087879|PMID:35300203|PMID:35653365|PMID:35819174|PMID:36138163|PMID:36264615|PMID:36360260|PMID:36621286|PMID:36837563|PMID:37328711|PMID:37418234|PMID:37477868|PMID:9536098 8706244 Dsg2 desmoglein 2 gene DOID:0050700 cardiomyopathy ISO RGD:1322446 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:12586364|PMID:16025435|PMID:16199547|PMID:16505173|PMID:16773573|PMID:16774985|PMID:17105751|PMID:17372169|PMID:17576681|PMID:18382419|PMID:18632414|PMID:18639457|PMID:18678517|PMID:18813333|PMID:19039334|PMID:19151369|PMID:19279339|PMID:19358943|PMID:19569224|PMID:19863551|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20603720|PMID:20708101|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21220045|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22214898|PMID:22458570|PMID:23071725|PMID:23128240|PMID:23137101|PMID:23178689|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24125834|PMID:24238504|PMID:24436435|PMID:24503780|PMID:24618965|PMID:24704780|PMID:24967631|PMID:25059832|PMID:25087486|PMID:25172079|PMID:25174650|PMID:25209314|PMID:25213555|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25637381|PMID:2569966|PMID:25741868|PMID:25765472|PMID:25820315|PMID:25877686|PMID:26112015|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26272908|PMID:26296472|PMID:26498160|PMID:26633542|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26850880|PMID:26899768|PMID:27005929|PMID:27055156|PMID:27114410|PMID:27135274|PMID:271711|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28074886|PMID:28087566|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28288337|PMID:28323875|PMID:28341588|PMID:28416588|PMID:28454995|PMID:28471438|PMID:28472724|PMID:28492532|PMID:28567303|PMID:28578331|PMID:28588093|PMID:28600387|PMID:28818065|PMID:28878402|PMID:29016939|PMID:29038103|PMID:29062102|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29343803|PMID:29396286|PMID:29456632|PMID:29517769|PMID:29566126|PMID:29606362|PMID:29750433|PMID:29759408|PMID:29773157|PMID:29802319|PMID:29899727|PMID:30129429|PMID:30165862|PMID:30177324|PMID:30391969|PMID:30454721|PMID:30471092|PMID:30533233|PMID:30615648|PMID:30731207|PMID:30790397|PMID:30830208|PMID:30847666|PMID:30885746|PMID:30919572|PMID:30975432|PMID:30985088|PMID:30993396|PMID:30996762|PMID:31019283|PMID:31024045|PMID:31130284|PMID:31156706|PMID:31183845|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31542937|PMID:31568572|PMID:31638835|PMID:31645976|PMID:31655555|PMID:31702781|PMID:31737537|PMID:31845994|PMID:31983221|PMID:32041989|PMID:32102357|PMID:32114801|PMID:32268277|PMID:32516855|PMID:32659924|PMID:32665702|PMID:32682410|PMID:32686758|PMID:32746448|PMID:32826072|PMID:32877757|PMID:32880476|PMID:33029862|PMID:33087929|PMID:33232181|PMID:33238575|PMID:33460606|PMID:33552729|PMID:33652588|PMID:33673806|PMID:33762593|PMID:33821670|PMID:33919104|PMID:33949662|PMID:33968641|PMID:34012299|PMID:34036930|PMID:34137518|PMID:34317382|PMID:34426522|PMID:34428338|PMID:34500006|PMID:34998950|PMID:35026164|PMID:35087879|PMID:35300203|PMID:35653365|PMID:35819174|PMID:35941102|PMID:36138163|PMID:36264615|PMID:36360260|PMID:36621286|PMID:36837563|PMID:37288269|PMID:37328711|PMID:37418234|PMID:37477868|PMID:39227800|PMID:39253717|PMID:9536098 8706244 Dsg2 desmoglein 2 gene DOID:0050700 cardiomyopathy ISO RGD:1322446 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:12586364|PMID:16025435|PMID:16199547|PMID:16505173|PMID:16773573|PMID:16774985|PMID:17105751|PMID:17372169|PMID:17576681|PMID:18382419|PMID:18632414|PMID:18639457|PMID:18678517|PMID:18813333|PMID:19039334|PMID:19151369|PMID:19279339|PMID:19358943|PMID:19569224|PMID:19863551|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20603720|PMID:20708101|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21220045|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22214898|PMID:22458570|PMID:23071725|PMID:23128240|PMID:23137101|PMID:23178689|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24125834|PMID:24238504|PMID:24436435|PMID:24503780|PMID:24618965|PMID:24704780|PMID:24967631|PMID:25059832|PMID:25087486|PMID:25172079|PMID:25174650|PMID:25209314|PMID:25213555|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25637381|PMID:2569966|PMID:25741868|PMID:25765472|PMID:25820315|PMID:25877686|PMID:26112015|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26272908|PMID:26296472|PMID:26498160|PMID:26585103|PMID:26633542|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26850880|PMID:26899768|PMID:27005929|PMID:27055156|PMID:27114410|PMID:27135274|PMID:271711|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28074886|PMID:28087566|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28288337|PMID:28323875|PMID:28341588|PMID:28416588|PMID:28454995|PMID:28471438|PMID:28472724|PMID:28492532|PMID:28567303|PMID:28578331|PMID:28588093|PMID:28600387|PMID:28818065|PMID:28878402|PMID:29016939|PMID:29038103|PMID:29062102|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29343803|PMID:29396286|PMID:29456632|PMID:29517769|PMID:29566126|PMID:29606362|PMID:29750433|PMID:29759408|PMID:29773157|PMID:29802319|PMID:29899727|PMID:30129429|PMID:30165862|PMID:30177324|PMID:30391969|PMID:30454721|PMID:30471092|PMID:30533233|PMID:30615648|PMID:30731207|PMID:30790397|PMID:30830208|PMID:30847666|PMID:30885746|PMID:30919572|PMID:30975432|PMID:30985088|PMID:30993396|PMID:30996762|PMID:31019283|PMID:31024045|PMID:31130284|PMID:31156706|PMID:31183845|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31542937|PMID:31568572|PMID:31638835|PMID:31645976|PMID:31655555|PMID:31702781|PMID:31737537|PMID:31845994|PMID:31983221|PMID:32041989|PMID:32102357|PMID:32114801|PMID:32268277|PMID:32516855|PMID:32522011|PMID:32659924|PMID:32665702|PMID:32682410|PMID:32686758|PMID:32746448|PMID:32826072|PMID:32877757|PMID:32880476|PMID:33029862|PMID:33087929|PMID:33232181|PMID:33238575|PMID:33460606|PMID:33552729|PMID:33652588|PMID:33673806|PMID:33762593|PMID:33821670|PMID:33919104|PMID:33949662|PMID:33968641|PMID:34012299|PMID:34036930|PMID:34137518|PMID:34317382|PMID:34400560|PMID:34426522|PMID:34428338|PMID:34500006|PMID:34998950|PMID:35026164|PMID:35087879|PMID:35300203|PMID:35653365|PMID:35819174|PMID:35941102|PMID:36138163|PMID:36264615|PMID:36360260|PMID:36621286|PMID:36837563|PMID:37288269|PMID:37328711|PMID:37418234|PMID:37477868|PMID:39227800|PMID:39253717|PMID:9536098 8706244 Dsg2 desmoglein 2 gene DOID:0060036 intrinsic cardiomyopathy ISO RGD:1322447 D RGD:9068941 20240118 MouseDO 8706244 Dsg2 desmoglein 2 gene DOID:0060319 cardiac arrest ISO RGD:1322446 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Cardiac arrest PMID:20400443|PMID:23071725|PMID:23861362|PMID:24070718|PMID:25741868|PMID:28492532|PMID:28600387|PMID:37418234 8706244 Dsg2 desmoglein 2 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1322446 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:31690835 8706244 Dsg2 desmoglein 2 gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:1322446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:17105751|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19358943|PMID:19569224|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20716751|PMID:20857253|PMID:20864495|PMID:21455723|PMID:21606390|PMID:23810883|PMID:23861362|PMID:24033266|PMID:24055113|PMID:25741868|PMID:28492532|PMID:29038103 8706244 Dsg2 desmoglein 2 gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:1322446 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:17105751|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19358943|PMID:19569224|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20716751|PMID:20857253|PMID:20864495|PMID:21455723|PMID:21606390|PMID:23071725|PMID:23810883|PMID:23861362|PMID:24033266|PMID:24055113|PMID:25741868|PMID:28087566|PMID:28472724|PMID:28492532|PMID:29038103|PMID:32268277|PMID:35087879 8706244 Dsg2 desmoglein 2 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1322446 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:17105751|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19358943|PMID:19569224|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20716751|PMID:20857253|PMID:20864495|PMID:21455723|PMID:21606390|PMID:23071725|PMID:23810883|PMID:23861362|PMID:24033266|PMID:24055113|PMID:25741868|PMID:28087566|PMID:28472724|PMID:28492532|PMID:29038103|PMID:32268277|PMID:35087879 8706244 Dsg2 desmoglein 2 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1322446 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:17105751|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19358943|PMID:19569224|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20716751|PMID:20857253|PMID:20864495|PMID:21455723|PMID:21606390|PMID:21606396|PMID:23071725|PMID:23396983|PMID:23810883|PMID:23861362|PMID:24033266|PMID:24055113|PMID:25741868|PMID:28087566|PMID:28472724|PMID:28492532|PMID:29038103|PMID:29517769|PMID:30847666|PMID:32268277|PMID:35087879 8706244 Dsg2 desmoglein 2 gene DOID:0110070 arrhythmogenic right ventricular dysplasia 1 ISO RGD:1322446 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 PMID:17105751|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19569224|PMID:20031616|PMID:20129281|PMID:20603720|PMID:20829228|PMID:20857253|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:23071725|PMID:23299917|PMID:23671136|PMID:23812740|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24436435|PMID:24704780|PMID:25332820|PMID:25445213|PMID:25637381|PMID:25741868|PMID:26138720|PMID:26230511|PMID:26899768|PMID:28492532|PMID:29062102|PMID:35819174 8706244 Dsg2 desmoglein 2 gene DOID:0110077 arrhythmogenic right ventricular dysplasia 9 ISO RGD:1322446 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 PMID:16199547|PMID:16773573|PMID:17105751|PMID:19151369|PMID:19863551|PMID:20031617|PMID:20152563|PMID:20400443|PMID:20716751|PMID:20857253|PMID:21859740|PMID:23671136|PMID:24033266|PMID:2569966|PMID:25741868|PMID:25820315|PMID:27532257|PMID:28283360|PMID:28492532|PMID:28600387|PMID:30731207|PMID:30790397|PMID:31386562|PMID:31402444|PMID:33238575|PMID:35087879|PMID:35653365 8706244 Dsg2 desmoglein 2 gene DOID:0110081 arrhythmogenic right ventricular dysplasia 10 ISO RGD:1322446 D RGD:7240710 20180130 OMIM 8706244 Dsg2 desmoglein 2 gene DOID:0110081 arrhythmogenic right ventricular dysplasia 10 ISO RGD:1322446 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 10 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 10 PMID:12586364|PMID:16025435|PMID:16199547|PMID:16505173|PMID:16773573|PMID:16774985|PMID:17105751|PMID:17372169|PMID:17576681|PMID:18382419|PMID:18632414|PMID:18639457|PMID:18678517|PMID:18813333|PMID:19039334|PMID:19151369|PMID:19279339|PMID:19358943|PMID:19569224|PMID:19863551|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:2040044|PMID:20400443|PMID:20603720|PMID:20708101|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21220045|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22036071|PMID:22214898|PMID:22458570|PMID:23071725|PMID:23128240|PMID:23137101|PMID:23178689|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24086444|PMID:24125834|PMID:24238504|PMID:24436435|PMID:24503780|PMID:24585727|PMID:24618965|PMID:24704780|PMID:24967631|PMID:25059832|PMID:25087486|PMID:25172079|PMID:25174650|PMID:25209314|PMID:25213555|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25525159|PMID:25616645|PMID:25637381|PMID:2569966|PMID:25741868|PMID:25765472|PMID:25819062|PMID:25820315|PMID:25877686|PMID:26112015|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26272908|PMID:26296472|PMID:26498160|PMID:26585103|PMID:26633542|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26850880|PMID:26899768|PMID:27005929|PMID:27055156|PMID:27114410|PMID:27135274|PMID:271711|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28074886|PMID:28087566|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28283360|PMID:28288337|PMID:28323875|PMID:28341588|PMID:28416588|PMID:28454995|PMID:28471438|PMID:28472724|PMID:28492532|PMID:28567303|PMID:28578331|PMID:28588093|PMID:28600387|PMID:28611029|PMID:28818065|PMID:28878402|PMID:29016939|PMID:29038103|PMID:29062102|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29343803|PMID:29396286|PMID:29456632|PMID:29517769|PMID:29544605|PMID:29566126|PMID:29606362|PMID:29750433|PMID:29759408|PMID:29773157|PMID:29790872|PMID:29802319|PMID:29899727|PMID:30129429|PMID:30165862|PMID:30177324|PMID:30391969|PMID:30454721|PMID:30471092|PMID:30524916|PMID:30533233|PMID:30615648|PMID:30731207|PMID:30765282|PMID:30790397|PMID:30830208|PMID:30847666|PMID:30885746|PMID:30919572|PMID:30975432|PMID:30985088|PMID:30993396|PMID:30996762|PMID:31019283|PMID:31130284|PMID:31156706|PMID:31183845|PMID:31319917|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31542937|PMID:31568572|PMID:31638835|PMID:31645976|PMID:31655555|PMID:31702781|PMID:31737537|PMID:31845994|PMID:31983221|PMID:32041989|PMID:32102357|PMID:32114801|PMID:32268277|PMID:32516855|PMID:32522011|PMID:32569162|PMID:32659924|PMID:32665702|PMID:32682410|PMID:32686758|PMID:32746448|PMID:32826072|PMID:32877757|PMID:32880476|PMID:33029862|PMID:33087929|PMID:33232181|PMID:33238575|PMID:33460606|PMID:33500567|PMID:33552729|PMID:33652588|PMID:33673806|PMID:33684294|PMID:33762593|PMID:33789662|PMID:33821670|PMID:33919104|PMID:33949662|PMID:33968641|PMID:34012299|PMID:34036930|PMID:34137518|PMID:34317382|PMID:34400560|PMID:34426522|PMID:34428338|PMID:34500006|PMID:34998950|PMID:35026164|PMID:35087879|PMID:35300203|PMID:35352813|PMID:35653365|PMID:35819174|PMID:35838873|PMID:35941102|PMID:36129056|PMID:36138163|PMID:36264615|PMID:36360260|PMID:36621286|PMID:36837563|PMID:37288269|PMID:37328711|PMID:37418234|PMID:37477868|PMID:39227800|PMID:39253717|PMID:9536098 8706244 Dsg2 desmoglein 2 gene DOID:0110082 arrhythmogenic right ventricular dysplasia 11 ISO RGD:1322446 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 11 PMID:23911551|PMID:28492532|PMID:29038103 8706244 Dsg2 desmoglein 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1322446 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:17105751|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19358943|PMID:19569224|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20716751|PMID:20857253|PMID:20864495|PMID:21455723|PMID:21606390|PMID:21606396|PMID:23071725|PMID:23396983|PMID:23810883|PMID:23861362|PMID:24033266|PMID:24055113|PMID:25741868|PMID:28087566|PMID:28472724|PMID:28492532|PMID:29038103|PMID:29517769|PMID:30847666|PMID:32268277|PMID:35087879 8706244 Dsg2 desmoglein 2 gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1322446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:25741868|PMID:28492532 8706244 Dsg2 desmoglein 2 gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:1322446 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:18639457|PMID:20031616|PMID:23071725|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28600387|PMID:30885746|PMID:31402444 8706244 Dsg2 desmoglein 2 gene DOID:0110458 dilated cardiomyopathy 1BB ISO RGD:1322446 D RGD:7240710 20180130 OMIM 8706244 Dsg2 desmoglein 2 gene DOID:0110458 dilated cardiomyopathy 1BB ISO RGD:1322446 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: DSG2-related condition | ClinVar Annotator: match by term: Dilated cardiomyopathy 1BB | ClinVar Annotator: match by term: Familial isolated dilated cardiomyopathy PMID:12586364|PMID:16025435|PMID:16199547|PMID:16773573|PMID:17105751|PMID:17576681|PMID:18382419|PMID:18639457|PMID:18678517|PMID:19039334|PMID:19358943|PMID:19569224|PMID:19863551|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20197793|PMID:2040044|PMID:20400443|PMID:20603720|PMID:20708101|PMID:20716751|PMID:20857253|PMID:20864495|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21859740|PMID:22000064|PMID:22214898|PMID:22458570|PMID:23071725|PMID:23128240|PMID:23137101|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24125834|PMID:24503780|PMID:24704780|PMID:24967631|PMID:25087486|PMID:25172079|PMID:25174650|PMID:25209314|PMID:25213555|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25820315|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26296472|PMID:26498160|PMID:26585103|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26850880|PMID:27055156|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28074886|PMID:28087566|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28341588|PMID:28471438|PMID:28472724|PMID:28492532|PMID:28588093|PMID:28600387|PMID:28818065|PMID:29038103|PMID:29178656|PMID:29343803|PMID:29456632|PMID:29544605|PMID:29566126|PMID:29750433|PMID:29759408|PMID:29790872|PMID:29802319|PMID:29899727|PMID:30177324|PMID:30391969|PMID:30454721|PMID:30790397|PMID:30830208|PMID:30847666|PMID:30885746|PMID:30996762|PMID:31019283|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31542937|PMID:31702781|PMID:31737537|PMID:31845994|PMID:31983221|PMID:32102357|PMID:32268277|PMID:32569162|PMID:32659924|PMID:32665702|PMID:32682410|PMID:32686758|PMID:32746448|PMID:32877757|PMID:33029862|PMID:33232181|PMID:33238575|PMID:33460606|PMID:33500567|PMID:33552729|PMID:33652588|PMID:33673806|PMID:33684294|PMID:33821670|PMID:33919104|PMID:33949662|PMID:34317382|PMID:34500006|PMID:35087879|PMID:35300203|PMID:35819174|PMID:35838873|PMID:36129056|PMID:36138163|PMID:36264615|PMID:37418234|PMID:9536098 8706244 Dsg2 desmoglein 2 gene DOID:1059 intellectual disability ISO RGD:1322446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8706244 Dsg2 desmoglein 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1322446 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:16773573|PMID:20031617|PMID:20400443|PMID:20708101|PMID:21220045|PMID:23071725|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:25213555|PMID:25741868|PMID:26633542|PMID:27055156|PMID:27532257|PMID:28454995|PMID:28492532|PMID:28567303|PMID:28600387|PMID:29456632|PMID:29750433|PMID:30615648|PMID:30830208|PMID:30847666|PMID:32114801|PMID:32516855|PMID:32659924|PMID:33460606|PMID:34426522|PMID:36621286|PMID:37418234 8706244 Dsg2 desmoglein 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1322446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:17105751|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19569224|PMID:20031616|PMID:20603720|PMID:20716751|PMID:20857253|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:23178689|PMID:23299917|PMID:23671136|PMID:23861362|PMID:23889974|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24503780|PMID:24704780|PMID:25059832|PMID:25332820|PMID:25445213|PMID:25637381|PMID:25741868|PMID:25820315|PMID:26230511|PMID:27114410|PMID:27532257|PMID:28087566|PMID:28492532|PMID:29802319|PMID:30885746 8706244 Dsg2 desmoglein 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1322446 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:17105751|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19569224|PMID:20031616|PMID:20603720|PMID:20716751|PMID:20857253|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:23178689|PMID:23299917|PMID:23671136|PMID:23861362|PMID:23889974|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24503780|PMID:24704780|PMID:25059832|PMID:25332820|PMID:25445213|PMID:25637381|PMID:25741868|PMID:25820315|PMID:26230511|PMID:27114410|PMID:27532257|PMID:28087566|PMID:28492532|PMID:28600387|PMID:29802319|PMID:30885746 8706244 Dsg2 desmoglein 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1322446 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:17105751|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19569224|PMID:20031616|PMID:20603720|PMID:20716751|PMID:20857253|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:23178689|PMID:23299917|PMID:23671136|PMID:23861362|PMID:23889974|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24503780|PMID:24704780|PMID:25059832|PMID:25332820|PMID:25445213|PMID:25637381|PMID:25741868|PMID:25820315|PMID:26230511|PMID:27114410|PMID:27532257|PMID:28087566|PMID:28323875|PMID:28492532|PMID:28600387|PMID:29802319|PMID:30885746|PMID:31983221 8706244 Dsg2 desmoglein 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1322446 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:17105751|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19569224|PMID:20031616|PMID:20603720|PMID:20716751|PMID:20857253|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:23178689|PMID:23299917|PMID:23671136|PMID:23861362|PMID:23889974|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24503780|PMID:24704780|PMID:25059832|PMID:25332820|PMID:25445213|PMID:25637381|PMID:25741868|PMID:25820315|PMID:26230511|PMID:27114410|PMID:27532257|PMID:28087566|PMID:28323875|PMID:28492532|PMID:28600387|PMID:29016939|PMID:29802319|PMID:30885746|PMID:31983221 8706244 Dsg2 desmoglein 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1322446 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:17105751|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19569224|PMID:20031616|PMID:20603720|PMID:20716751|PMID:20857253|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:23178689|PMID:23299917|PMID:23671136|PMID:23861362|PMID:23889974|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24503780|PMID:24704780|PMID:25059832|PMID:25332820|PMID:25445213|PMID:25637381|PMID:25741868|PMID:25820315|PMID:26230511|PMID:27114410|PMID:27532257|PMID:28087566|PMID:28323875|PMID:28492532|PMID:28600387|PMID:29016939|PMID:29802319|PMID:30615648|PMID:30885746|PMID:31983221|PMID:34137518 8706244 Dsg2 desmoglein 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1322446 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:17105751|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19569224|PMID:20031616|PMID:20603720|PMID:20716751|PMID:20857253|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:23178689|PMID:23299917|PMID:23671136|PMID:23861362|PMID:23889974|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24503780|PMID:24704780|PMID:25059832|PMID:25332820|PMID:25445213|PMID:25637381|PMID:25741868|PMID:25820315|PMID:26220970|PMID:26230511|PMID:27114410|PMID:27532257|PMID:28074886|PMID:28087566|PMID:28323875|PMID:28492532|PMID:28600387|PMID:29016939|PMID:29802319|PMID:30615648|PMID:30885746|PMID:31983221|PMID:34137518|PMID:34998950 8706244 Dsg2 desmoglein 2 gene DOID:2843 long QT syndrome ISO RGD:1322446 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:17105751|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19358943|PMID:19569224|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20716751|PMID:20857253|PMID:20864495|PMID:21455723|PMID:21606390|PMID:23810883|PMID:23861362|PMID:24033266|PMID:24055113|PMID:25741868|PMID:28492532|PMID:29038103|PMID:35087879 8706244 Dsg2 desmoglein 2 gene DOID:2843 long QT syndrome ISO RGD:1322446 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:17105751|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19358943|PMID:19569224|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20716751|PMID:20857253|PMID:20864495|PMID:21455723|PMID:21606390|PMID:23071725|PMID:23810883|PMID:23861362|PMID:24033266|PMID:24055113|PMID:25741868|PMID:28087566|PMID:28472724|PMID:28492532|PMID:29038103|PMID:32268277|PMID:35087879 8706244 Dsg2 desmoglein 2 gene DOID:397 restrictive cardiomyopathy ISO RGD:1322446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Restrictive cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 8706244 Dsg2 desmoglein 2 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1322446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:24033266|PMID:25741868|PMID:28492532 8706244 Dsg2 desmoglein 2 gene DOID:9000184 Ventricular Fibrillation ISO RGD:1322446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation 8706244 Dsg2 desmoglein 2 gene DOID:9000299 cardiac amyloidosis ISO RGD:1322446 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: AMYLOID CARDIOMYOPATHY PMID:28492532 8706244 Dsg2 desmoglein 2 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1322446 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:17576681|PMID:25741868|PMID:28492532|PMID:31333075|PMID:31568572|PMID:9536098 8706244 Dsg2 desmoglein 2 gene DOID:9001512 Familial Amyloid Polyneuropathies ISO RGD:1322446 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Familial amyloid polyneuropathy PMID:28492532 8706244 Dsg2 desmoglein 2 gene DOID:9001836 Cardiac Conduction Defect ISO RGD:1322446 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: cardiac conduction defect PMID:21606396|PMID:25741868|PMID:28492532|PMID:29517769|PMID:30847666 8706244 Dsg2 desmoglein 2 gene DOID:9003139 Cardiac Fibrosis disease_progression ISO RGD:1322447 D RGD:9068941 20231102 RGD PMID:21455723|REF_RGD_ID:401851067 8706244 Dsg2 desmoglein 2 gene DOID:9003163 Heart Block ISO RGD:1322446 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart PMID:21606396|PMID:25741868|PMID:28492532|PMID:29517769|PMID:30847666 8706244 Dsg2 desmoglein 2 gene DOID:9003936 Cardiomegaly ISO RGD:1311143 D RGD:9068941 20230420 RGD protein:increased expression:heart (rat) PMID:26708424|REF_RGD_ID:264347602 8706244 Dsg2 desmoglein 2 gene DOID:9007925 Sudden Cardiac Death ISO RGD:1322446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden cardiac death PMID:25741868 8706244 Dsg2 desmoglein 2 gene DOID:9538 multiple myeloma disease_progression ISO RGD:1322446 D RGD:9068941 20231102 RGD PMID:34245117|REF_RGD_ID:401851080 8706263 Ube2j2 ubiquitin conjugating enzyme E2 J2 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1343973 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8706263 Ube2j2 ubiquitin conjugating enzyme E2 J2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1343973 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 8706263 Ube2j2 ubiquitin conjugating enzyme E2 J2 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1343973 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:23892090|PMID:28492532|PMID:31602316 8706263 Ube2j2 ubiquitin conjugating enzyme E2 J2 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1343973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 8706263 Ube2j2 ubiquitin conjugating enzyme E2 J2 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1343973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 8706263 Ube2j2 ubiquitin conjugating enzyme E2 J2 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1343973 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8706263 Ube2j2 ubiquitin conjugating enzyme E2 J2 gene DOID:0111934 immunodeficiency 38 ISO RGD:1343973 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8706263 Ube2j2 ubiquitin conjugating enzyme E2 J2 gene DOID:0111935 immunodeficiency 16 ISO RGD:1343973 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8706263 Ube2j2 ubiquitin conjugating enzyme E2 J2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8706263 Ube2j2 ubiquitin conjugating enzyme E2 J2 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1343973 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:23892090|PMID:28492532|PMID:31602316 8706263 Ube2j2 ubiquitin conjugating enzyme E2 J2 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1343973 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8706302 Emd emerin gene DOID:0050454 periventricular nodular heterotopia ISO RGD:735605 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17546640|PMID:18854860|PMID:19396829|PMID:19846429|PMID:20730588|PMID:20871226|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24098143|PMID:24365856|PMID:24962355|PMID:25817843|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8706302 Emd emerin gene DOID:0050476 Barth syndrome ISO RGD:735605 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11379875|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:18177777|PMID:18627054|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:35384376|PMID:9384614 8706302 Emd emerin gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:735605 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:25741868|PMID:32860008 8706302 Emd emerin gene DOID:0050700 cardiomyopathy ISO RGD:735605 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:19377476|PMID:20474083|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26467025|PMID:26820365|PMID:28492532|PMID:29961767|PMID:31024910 8706302 Emd emerin gene DOID:0050800 cerebral creatine deficiency syndrome 1 ISO RGD:735605 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11379875|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:18177777|PMID:18627054|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:35384376|PMID:9384614 8706302 Emd emerin gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:735605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 8706302 Emd emerin gene DOID:0070246 X-linked Emery-Dreifuss muscular dystrophy 1 ISO RGD:735605 D RGD:7240710 20180912 OMIM 8706302 Emd emerin gene DOID:0070246 X-linked Emery-Dreifuss muscular dystrophy 1 ISO RGD:735605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 1, X-linked | ClinVar Annotator: match by term: Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures PMID:10323252|PMID:10382909|PMID:10382910|PMID:10393813|PMID:10399752|PMID:10480214|PMID:11385714|PMID:15967842|PMID:16080119|PMID:16199547|PMID:17067998|PMID:17355552|PMID:17576681|PMID:17620497|PMID:18646565|PMID:19997654|PMID:20474083|PMID:21496632|PMID:21520333|PMID:21697856|PMID:23169761|PMID:23349452|PMID:23395478|PMID:23785128|PMID:24033266|PMID:24365856|PMID:24375709|PMID:24503780|PMID:25030574|PMID:25210889|PMID:25741868|PMID:26187847|PMID:26247046|PMID:26415001|PMID:26467025|PMID:26675233|PMID:26899768|PMID:28492532|PMID:31185657|PMID:31474437|PMID:31475473|PMID:32860008|PMID:34524739|PMID:7894480|PMID:8589715|PMID:8595406|PMID:8595407|PMID:8595433|PMID:8655156|PMID:9195226|PMID:9266737|PMID:9384614|PMID:9472006|PMID:9536090|PMID:9536098 8706302 Emd emerin gene DOID:0070246 X-linked Emery-Dreifuss muscular dystrophy 1 ISO RGD:735605 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 1, X-linked | ClinVar Annotator: match by term: Muscular dystrophy, tardive Emery-Dreifuss type, with contractures | ClinVar Annotator: match by term: Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures PMID:10220866|PMID:10323252|PMID:10382909|PMID:10382910|PMID:10393813|PMID:12872622|PMID:15967842|PMID:17067998|PMID:17576681|PMID:17620497|PMID:19377476|PMID:20474083|PMID:21496632|PMID:21520333|PMID:21697856|PMID:21993399|PMID:23349452|PMID:23395478|PMID:23785128|PMID:24033266|PMID:24365856|PMID:24375709|PMID:24503780|PMID:25030574|PMID:25210889|PMID:25741868|PMID:26187847|PMID:26415001|PMID:26467025|PMID:26675233|PMID:26820365|PMID:26899768|PMID:28492532|PMID:29349559|PMID:29961767|PMID:30079154|PMID:30086531|PMID:30763825|PMID:30847666|PMID:31024910|PMID:31185657|PMID:31645980|PMID:31718017|PMID:32600061|PMID:32880476|PMID:34026875|PMID:37198425|PMID:38337354|PMID:38673666|PMID:8589715|PMID:8595406|PMID:9536090|PMID:9536098 8706302 Emd emerin gene DOID:0070251 X-linked Emery-Dreifuss muscular dystrophy 6 ISO RGD:735605 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: X-linked myopathy with postural muscle atrophy PMID:25741868 8706302 Emd emerin gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:735605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:28492532 8706302 Emd emerin gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:735605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:25741868 8706302 Emd emerin gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:735605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:25741868 8706302 Emd emerin gene DOID:0111823 autosomal hemophilia A ISO RGD:735605 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A PMID:31690835 8706302 Emd emerin gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:735605 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:22578097|PMID:22679399|PMID:23220634|PMID:26930212|PMID:28492532 8706302 Emd emerin gene DOID:0112003 immunodeficiency 33 ISO RGD:735605 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 8706302 Emd emerin gene DOID:10588 adrenoleukodystrophy ISO RGD:735605 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11379875|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:18177777|PMID:18627054|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:35384376|PMID:9384614 8706302 Emd emerin gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:735605 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10323252|PMID:10382909|PMID:10393813|PMID:10399752|PMID:10428430|PMID:10480214|PMID:11385714|PMID:1178008|PMID:15967842|PMID:16080119|PMID:17067998|PMID:17355552|PMID:17576681|PMID:18646565|PMID:19345147|PMID:1998333|PMID:20474083|PMID:21496632|PMID:21697856|PMID:23169761|PMID:23349452|PMID:23395478|PMID:23785128|PMID:24033266|PMID:24365856|PMID:24503780|PMID:25741868|PMID:26187847|PMID:26415001|PMID:26467025|PMID:26675233|PMID:26899768|PMID:28492532|PMID:31185657|PMID:31474437|PMID:32860008|PMID:34524739|PMID:7294729|PMID:7894480|PMID:8589715|PMID:8595406|PMID:8595407|PMID:8595433|PMID:8655156|PMID:9384614|PMID:9472006|PMID:9536090|PMID:9536098 8706302 Emd emerin gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:735605 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10323252|PMID:10382909|PMID:10393813|PMID:10399752|PMID:10428430|PMID:10480214|PMID:11385714|PMID:1178008|PMID:15967842|PMID:16080119|PMID:17067998|PMID:17355552|PMID:17576681|PMID:18646565|PMID:19345147|PMID:1998333|PMID:20474083|PMID:21496632|PMID:21697856|PMID:23169761|PMID:23349452|PMID:23395478|PMID:23785128|PMID:24033266|PMID:24365856|PMID:24503780|PMID:25741868|PMID:26187847|PMID:26415001|PMID:26467025|PMID:26675233|PMID:26820365|PMID:26899768|PMID:28492532|PMID:29961767|PMID:31024910|PMID:31185657|PMID:31474437|PMID:32860008|PMID:34524739|PMID:7294729|PMID:7894480|PMID:8589715|PMID:8595406|PMID:8595407|PMID:8595433|PMID:8655156|PMID:9384614|PMID:9472006|PMID:9536090|PMID:9536098 8706302 Emd emerin gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:735605 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10220866|PMID:10323252|PMID:10382909|PMID:10382910|PMID:10393813|PMID:10399752|PMID:10428430|PMID:10480214|PMID:10874323|PMID:11385714|PMID:11587540|PMID:11748843|PMID:1178008|PMID:11968085|PMID:12872622|PMID:15328537|PMID:15967842|PMID:16080119|PMID:16199547|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17067998|PMID:17355552|PMID:17576681|PMID:17620497|PMID:18646565|PMID:19377476|PMID:19396829|PMID:19846429|PMID:1998333|PMID:19997654|PMID:20474083|PMID:20730588|PMID:21496632|PMID:21520333|PMID:21697856|PMID:21993399|PMID:22281021|PMID:22382802|PMID:23169761|PMID:23349452|PMID:23395478|PMID:23409742|PMID:23660394|PMID:23785128|PMID:24033266|PMID:24365856|PMID:24375709|PMID:24503780|PMID:24962355|PMID:25030574|PMID:25210889|PMID:25741868|PMID:26187847|PMID:26247046|PMID:26415001|PMID:26467025|PMID:26471271|PMID:26675233|PMID:26820365|PMID:26899768|PMID:27854218|PMID:28492532|PMID:29334594|PMID:29349559|PMID:29961767|PMID:30079154|PMID:30763825|PMID:30847666|PMID:31024910|PMID:31185657|PMID:31474437|PMID:31475473|PMID:31645980|PMID:31718017|PMID:32860008|PMID:32880476|PMID:33124102|PMID:34026875|PMID:34524739|PMID:7294729|PMID:7894480|PMID:8589715|PMID:8595406|PMID:8595407|PMID:8595433|PMID:8655156|PMID:9195226|PMID:9266737|PMID:9384614|PMID:9472006|PMID:9536090|PMID:9536098 8706302 Emd emerin gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:735605 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10220866|PMID:10323252|PMID:10382909|PMID:10382910|PMID:10393813|PMID:10399752|PMID:10428430|PMID:10480214|PMID:10874323|PMID:11385714|PMID:11587540|PMID:11748843|PMID:1178008|PMID:11968085|PMID:12872622|PMID:15328537|PMID:15967842|PMID:16080119|PMID:16199547|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17067998|PMID:17355552|PMID:17576681|PMID:17620497|PMID:18646565|PMID:19377476|PMID:19396829|PMID:19846429|PMID:1998333|PMID:19997654|PMID:20474083|PMID:20730588|PMID:21496632|PMID:21520333|PMID:21697856|PMID:21993399|PMID:22281021|PMID:22382802|PMID:23169761|PMID:23349452|PMID:23395478|PMID:23409742|PMID:23660394|PMID:23785128|PMID:24033266|PMID:24365856|PMID:24375709|PMID:24503780|PMID:24962355|PMID:25030574|PMID:25210889|PMID:25326637|PMID:25741868|PMID:26187847|PMID:26247046|PMID:26415001|PMID:26467025|PMID:26471271|PMID:26675233|PMID:26820365|PMID:26899768|PMID:28492532|PMID:29334594|PMID:29349559|PMID:29961767|PMID:30079154|PMID:30763825|PMID:30847666|PMID:31024910|PMID:31185657|PMID:31474437|PMID:31475473|PMID:31645980|PMID:31718017|PMID:31977013|PMID:32860008|PMID:32880476|PMID:33124102|PMID:34026875|PMID:34524739|PMID:7294729|PMID:7894480|PMID:8589715|PMID:8595406|PMID:8595407|PMID:8595433|PMID:8655156|PMID:9195226|PMID:9266737|PMID:9384614|PMID:9472006|PMID:9536090|PMID:9536098 8706302 Emd emerin gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:735605 D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10220866|PMID:10323252|PMID:10382909|PMID:10382910|PMID:10393813|PMID:10399752|PMID:10428430|PMID:10480214|PMID:10874323|PMID:11385714|PMID:11587540|PMID:11748843|PMID:1178008|PMID:11968085|PMID:12872622|PMID:15328537|PMID:15967842|PMID:16080119|PMID:16199547|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17067998|PMID:17355552|PMID:17576681|PMID:17620497|PMID:18646565|PMID:19377476|PMID:19396829|PMID:19846429|PMID:1998333|PMID:19997654|PMID:20474083|PMID:20730588|PMID:21496632|PMID:21520333|PMID:21697856|PMID:21993399|PMID:22281021|PMID:22382802|PMID:23169761|PMID:23349452|PMID:23395478|PMID:23409742|PMID:23660394|PMID:23785128|PMID:24033266|PMID:24365856|PMID:24375709|PMID:24503780|PMID:24962355|PMID:25030574|PMID:25210889|PMID:25741868|PMID:26187847|PMID:26247046|PMID:26415001|PMID:26467025|PMID:26471271|PMID:26675233|PMID:26820365|PMID:26899768|PMID:28492532|PMID:29334594|PMID:29349559|PMID:29961767|PMID:30079154|PMID:30763825|PMID:30847666|PMID:31024910|PMID:31185657|PMID:31474437|PMID:31475473|PMID:31645980|PMID:31718017|PMID:31977013|PMID:32860008|PMID:32880476|PMID:33124102|PMID:34026875|PMID:34524739|PMID:7294729|PMID:7894480|PMID:8589715|PMID:8595406|PMID:8595407|PMID:8595433|PMID:8655156|PMID:9195226|PMID:9266737|PMID:9384614|PMID:9472006|PMID:9536090|PMID:9536098 8706302 Emd emerin gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:735605 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10220866|PMID:10323252|PMID:10382909|PMID:10382910|PMID:10393813|PMID:10399752|PMID:10428430|PMID:10480214|PMID:10677860|PMID:10874323|PMID:11379875|PMID:11385714|PMID:11587540|PMID:11748843|PMID:1178008|PMID:11968085|PMID:12872622|PMID:15328537|PMID:15967842|PMID:16080119|PMID:16199547|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17067998|PMID:17355552|PMID:17576681|PMID:17620497|PMID:18177777|PMID:18627054|PMID:18646565|PMID:19377476|PMID:19396829|PMID:19846429|PMID:1998333|PMID:19997654|PMID:20474083|PMID:20730588|PMID:21496632|PMID:21520333|PMID:21697856|PMID:21993399|PMID:22281021|PMID:22382802|PMID:23169761|PMID:23349452|PMID:23395478|PMID:23409742|PMID:23660394|PMID:23785128|PMID:24033266|PMID:24365856|PMID:24375709|PMID:24503780|PMID:24962355|PMID:25030574|PMID:25210889|PMID:25741868|PMID:26187847|PMID:26247046|PMID:26415001|PMID:26467025|PMID:26471271|PMID:26675233|PMID:26820365|PMID:26899768|PMID:28492532|PMID:29334594|PMID:29349559|PMID:29961767|PMID:30079154|PMID:30086531|PMID:30763825|PMID:30847666|PMID:31024910|PMID:31185657|PMID:31474437|PMID:31475473|PMID:31645980|PMID:31718017|PMID:31977013|PMID:32600061|PMID:32860008|PMID:32880476|PMID:33124102|PMID:34026875|PMID:34524739|PMID:34906502|PMID:35384376|PMID:37198425|PMID:38337354|PMID:38673666|PMID:7294729|PMID:7894480|PMID:8589715|PMID:8595406|PMID:8595407|PMID:8595433|PMID:8655156|PMID:9195226|PMID:9266737|PMID:9384614|PMID:9472006|PMID:9536090|PMID:9536098 8706302 Emd emerin gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:735605 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868 8706302 Emd emerin gene DOID:12134 factor VIII deficiency ISO RGD:735605 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Factor 8 deficiency, congenital PMID:31690835 8706302 Emd emerin gene DOID:12849 autistic disorder ISO RGD:735605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8706302 Emd emerin gene DOID:12930 dilated cardiomyopathy ISO RGD:735605 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28492532 8706302 Emd emerin gene DOID:13628 favism ISO RGD:735605 D RGD:8554872 20240716 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:10480214|PMID:11379875|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:18177777|PMID:18627054|PMID:19396829|PMID:19846429|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:28492532|PMID:35384376|PMID:9384614 8706302 Emd emerin gene DOID:2729 dyskeratosis congenita ISO RGD:735605 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:10480214|PMID:11379875|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:18177777|PMID:18627054|PMID:19396829|PMID:19846429|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:28492532|PMID:35384376|PMID:9384614 8706302 Emd emerin gene DOID:423 myopathy ISO RGD:735605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy PMID:25741868 8706302 Emd emerin gene DOID:440 neuromuscular disease ISO RGD:735605 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Neuromuscular disease PMID:10382909|PMID:10428430|PMID:1178008|PMID:18646565|PMID:1998333|PMID:21697856|PMID:24033266|PMID:28492532|PMID:7294729|PMID:8595407 8706302 Emd emerin gene DOID:607 paraplegia ISO RGD:735605 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11379875|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:18177777|PMID:18627054|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:35384376|PMID:9384614 8706302 Emd emerin gene DOID:9002720 Splenomegaly ISO RGD:735605 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 8706328 Klf9 KLF transcription factor 9 gene DOID:289 endometriosis ISO RGD:1350312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 8706328 Klf9 KLF transcription factor 9 gene DOID:50 thyroid gland disease ISO RGD:1350312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23397585 8706328 Klf9 KLF transcription factor 9 gene DOID:9007633 Body Weight ISO RGD:1350312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22344221 8706328 Klf9 KLF transcription factor 9 gene DOID:9775 diastolic heart failure ISO RGD:1350312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 8706344 Mc2r melanocortin 2 receptor gene DOID:0050562 West syndrome ISO RGD:1348934 D RGD:9068941 20200609 RGD DNA:snps:promoter:multiple (human) PMID:19024088|REF_RGD_ID:6484693 8706344 Mc2r melanocortin 2 receptor gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1348934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 8706344 Mc2r melanocortin 2 receptor gene DOID:0080621 glucocorticoid deficiency 1 ISO RGD:1348934 D RGD:7240710 20180130 OMIM 8706344 Mc2r melanocortin 2 receptor gene DOID:0080621 glucocorticoid deficiency 1 ISO RGD:1348934 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: ACTH resistance | ClinVar Annotator: match by term: Glucocorticoid deficiency 1 PMID:10443676|PMID:10971458|PMID:12213892|PMID:14960026|PMID:16271481|PMID:17128565|PMID:17223989|PMID:18059087|PMID:18407210|PMID:18492762|PMID:18504396|PMID:18840636|PMID:19170705|PMID:19558534|PMID:21932602|PMID:25741868|PMID:26523528|PMID:26650942|PMID:28492532|PMID:33247909|PMID:34258490|PMID:7829641|PMID:8069303|PMID:8094489|PMID:8227361|PMID:8250922|PMID:8636348|PMID:9550364|PMID:9758716 8706344 Mc2r melanocortin 2 receptor gene DOID:1059 intellectual disability ISO RGD:1348934 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8706344 Mc2r melanocortin 2 receptor gene DOID:10763 hypertension ISO RGD:1348934 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11082157 8706344 Mc2r melanocortin 2 receptor gene DOID:14115 toxic shock syndrome ISO RGD:628649 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:2822467|REF_RGD_ID:6484558 8706344 Mc2r melanocortin 2 receptor gene DOID:630 genetic disease ISO RGD:1348934 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10443676|PMID:17128565|PMID:17223989|PMID:18840636|PMID:25741868|PMID:33247909|PMID:7829641|PMID:9550364 8706344 Mc2r melanocortin 2 receptor gene DOID:9002304 Prostatic Neoplasms ISO RGD:1348934 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8706344 Mc2r melanocortin 2 receptor gene DOID:9004713 Acute-Phase Reaction ISO RGD:628649 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:22183812|REF_RGD_ID:6484138 8706344 Mc2r melanocortin 2 receptor gene DOID:9005683 Metabolic Brain Diseases, Inborn ISO RGD:1348934 D RGD:9068941 20200609 RGD Familial glucocorticoid deficiency (ACTH resistance), OMIM:202200 PMID:12213892|REF_RGD_ID:1600747 8706344 Mc2r melanocortin 2 receptor gene DOID:9005683 Metabolic Brain Diseases, Inborn ISO RGD:1348934 D RGD:9068941 20200609 RGD familial glucocorticoid deficiency (ACTJ resistance), OMIM:202200 PMID:8094489|REF_RGD_ID:1600745 8706344 Mc2r melanocortin 2 receptor gene DOID:9007480 Hyperoxia ISO RGD:1553230 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (mouse) PMID:8110467|REF_RGD_ID:6484136 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:0060599 Nance-Horan syndrome ISO RGD:736556 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Nance-Horan syndrome PMID:10679936|PMID:14564667|PMID:17256798|PMID:17304053|PMID:18076117|PMID:19414485|PMID:19780792|PMID:19888300|PMID:20591708|PMID:20882036|PMID:21770923|PMID:21914562|PMID:22473288|PMID:22872100|PMID:23184456|PMID:25315662|PMID:28492532|PMID:30945684|PMID:31916079|PMID:9837815 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:736556 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:0080467 developmental and epileptic encephalopathy 2 ISO RGD:736556 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:10679936|PMID:14564667|PMID:17256798|PMID:17304053|PMID:18076117|PMID:19414485|PMID:19780792|PMID:19888300|PMID:20591708|PMID:20882036|PMID:21770923|PMID:21914562|PMID:22473288|PMID:22872100|PMID:23184456|PMID:25315662|PMID:28492532|PMID:30945684|PMID:31916079|PMID:9837815 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:0111042 glycogen storage disease IXA ISO RGD:736556 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXa1 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:12849 autistic disorder ISO RGD:736556 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:1826 epilepsy ISO RGD:736556 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532|PMID:29286531 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:3649 pyruvate decarboxylase deficiency ISO RGD:736556 D RGD:7240710 20180130 OMIM 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:3649 pyruvate decarboxylase deficiency ISO RGD:736556 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Ataxia, intermittent, with pyruvate dehydrogenase, or decarboxylase, deficiency | ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency PMID:10486093|PMID:10679936|PMID:1293379|PMID:1301207|PMID:1338114|PMID:15384102|PMID:15473177|PMID:1779625|PMID:1909778|PMID:20002125|PMID:20002461|PMID:20691944|PMID:21846590|PMID:21914562|PMID:22142326|PMID:23021068|PMID:23871722|PMID:24718837|PMID:25495354|PMID:25590979|PMID:25741868|PMID:26467025|PMID:26865159|PMID:28492532|PMID:28639102|PMID:28918066|PMID:29756269|PMID:3034892|PMID:31618753|PMID:32445240|PMID:33204598|PMID:7692352|PMID:7887409|PMID:7981697|PMID:8032855|PMID:8504309|PMID:8598634|PMID:8962591|PMID:9671272 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:3650 lactic acidosis ISO RGD:736556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2537010 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:3783 Coffin-Lowry syndrome ISO RGD:736556 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Coffin-Lowry syndrome PMID:10679936|PMID:14564667|PMID:17256798|PMID:17304053|PMID:18076117|PMID:19414485|PMID:19780792|PMID:19888300|PMID:20591708|PMID:20882036|PMID:21770923|PMID:21914562|PMID:22473288|PMID:22872100|PMID:23184456|PMID:25315662|PMID:28492532|PMID:30945684|PMID:31916079|PMID:9837815 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:630 genetic disease ISO RGD:736556 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10679936|PMID:10767328|PMID:10872106|PMID:12651851|PMID:1293379|PMID:1301207|PMID:1338114|PMID:15384102|PMID:15473177|PMID:16713755|PMID:1779625|PMID:1909401|PMID:1909778|PMID:19517265|PMID:20002125|PMID:20002461|PMID:21470495|PMID:21846590|PMID:21914562|PMID:22142326|PMID:23021068|PMID:23871722|PMID:24718837|PMID:25495354|PMID:25590979|PMID:25741868|PMID:26467025|PMID:26865159|PMID:27144126|PMID:28492532|PMID:28639102|PMID:28918066|PMID:29756269|PMID:29970614|PMID:3034892|PMID:33092611|PMID:35620925|PMID:38497591|PMID:39118480|PMID:7692352|PMID:7887409|PMID:7981697|PMID:8032855|PMID:8504309|PMID:8598634|PMID:8962591|PMID:9671272 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:700 mitochondrial metabolism disease ISO RGD:736556 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Abnormality of the mitochondrion PMID:10679936|PMID:1301207|PMID:15384102|PMID:15473177|PMID:20002125|PMID:25590979|PMID:25741868|PMID:28492532|PMID:7887409 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:8398 osteoarthritis ISO RGD:736556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:736556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:9000918 Disease Progression ISO RGD:736556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:9000982 Pyruvate Dehydrogenase E1 Alpha Deficiency ISO RGD:736556 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency PMID:10486093|PMID:10679936|PMID:10767328|PMID:10775534|PMID:11102541|PMID:11241048|PMID:11757583|PMID:12379317|PMID:12551913|PMID:1293379|PMID:1301207|PMID:1338114|PMID:14564667|PMID:1508605|PMID:15384102|PMID:15473177|PMID:16199547|PMID:16713755|PMID:16981164|PMID:17043409|PMID:17172462|PMID:17256798|PMID:17576681|PMID:1770778|PMID:1779625|PMID:18023225|PMID:18197404|PMID:1907799|PMID:1909401|PMID:1909778|PMID:19414485|PMID:19639391|PMID:19780792|PMID:19888300|PMID:20002125|PMID:20002461|PMID:20591708|PMID:20691944|PMID:20882036|PMID:21770923|PMID:21846590|PMID:21914562|PMID:22142326|PMID:22473288|PMID:22872100|PMID:23021068|PMID:23184456|PMID:23871722|PMID:24718837|PMID:25326635|PMID:25356417|PMID:25495354|PMID:25582476|PMID:25590979|PMID:25741868|PMID:25741876|PMID:26467025|PMID:26633542|PMID:26865159|PMID:26987331|PMID:27896109|PMID:28252636|PMID:2828359|PMID:28492532|PMID:28584645|PMID:28639102|PMID:28918066|PMID:29286531|PMID:29756269|PMID:29758562|PMID:29882371|PMID:3034892|PMID:31069529|PMID:3137520|PMID:31618753|PMID:31658717|PMID:31673819|PMID:31916079|PMID:32005694|PMID:32445240|PMID:33092611|PMID:33204598|PMID:35620925|PMID:38177409|PMID:7573035|PMID:7692352|PMID:7887409|PMID:7981697|PMID:8024267|PMID:8032855|PMID:8199595|PMID:8504306|PMID:8504309|PMID:8598634|PMID:8771169|PMID:8844217|PMID:8962591|PMID:9266390|PMID:9536098|PMID:9618178|PMID:9671272|PMID:9686362|PMID:9837815 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881|PMID:29335542 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:9002994 Pyruvate Metabolism, Inborn Errors ISO RGD:736556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2378353 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736556 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:9005926 Leigh Syndrome, X-Linked ISO RGD:736556 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: X-linked Leigh syndrome PMID:10486093|PMID:1293379|PMID:20002461|PMID:21846590|PMID:22142326|PMID:23021068|PMID:25495354|PMID:25741868|PMID:26865159|PMID:28492532|PMID:3034892|PMID:31618753|PMID:9671272 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:9007 sudden infant death syndrome ISO RGD:736556 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:20002125|PMID:20002461|PMID:24718837|PMID:25741868|PMID:28492532|PMID:28639102|PMID:8962591 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:736556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8706379 Pnpt1 polyribonucleotide nucleotidyltransferase 1 gene DOID:0050974 spinocerebellar ataxia type 25 ISO RGD:1317494 D RGD:7240710 20220720 OMIM 8706379 Pnpt1 polyribonucleotide nucleotidyltransferase 1 gene DOID:0050974 spinocerebellar ataxia type 25 ISO RGD:1317494 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 25 PMID:11080643|PMID:14705117|PMID:24088041|PMID:25326635|PMID:25457163|PMID:25741868|PMID:26633545|PMID:28492532|PMID:30046113|PMID:30544257|PMID:30831263|PMID:31752325|PMID:32020600|PMID:32313153|PMID:33199448|PMID:34440436|PMID:35411967 8706379 Pnpt1 polyribonucleotide nucleotidyltransferase 1 gene DOID:0110521 autosomal recessive nonsyndromic deafness 70 ISO RGD:1317494 D RGD:7240710 20180130 OMIM 8706379 Pnpt1 polyribonucleotide nucleotidyltransferase 1 gene DOID:0110521 autosomal recessive nonsyndromic deafness 70 ISO RGD:1317494 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 70 PMID:11080643|PMID:23084290|PMID:23084291|PMID:24088041|PMID:25326635|PMID:25457163|PMID:25741868|PMID:26467025|PMID:26633545|PMID:27759031|PMID:28492532|PMID:28594066|PMID:28708278|PMID:30046113|PMID:30244537|PMID:30831263|PMID:31752325|PMID:32020600|PMID:32313153|PMID:33199448|PMID:34740920|PMID:36147510 8706379 Pnpt1 polyribonucleotide nucleotidyltransferase 1 gene DOID:0111467 combined oxidative phosphorylation deficiency 13 ISO RGD:1317494 D RGD:7240710 20180130 OMIM 8706379 Pnpt1 polyribonucleotide nucleotidyltransferase 1 gene DOID:0111467 combined oxidative phosphorylation deficiency 13 ISO RGD:1317494 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 13 PMID:11080643|PMID:16199547|PMID:17576681|PMID:23084291|PMID:24088041|PMID:25326635|PMID:25457163|PMID:25741868|PMID:26633542|PMID:26633545|PMID:27759031|PMID:28492532|PMID:28594066|PMID:28645153|PMID:30046113|PMID:30244537|PMID:30831263|PMID:31752325|PMID:32020600|PMID:32313153|PMID:33158637|PMID:33199448|PMID:33812062|PMID:34440436|PMID:34740920|PMID:36147510|PMID:9536098 8706379 Pnpt1 polyribonucleotide nucleotidyltransferase 1 gene DOID:5419 schizophrenia ISO RGD:1317494 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 8706379 Pnpt1 polyribonucleotide nucleotidyltransferase 1 gene DOID:630 genetic disease ISO RGD:1317494 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11080643|PMID:23084291|PMID:24088041|PMID:25326635|PMID:25457163|PMID:25741868|PMID:26633545|PMID:27759031|PMID:28492532|PMID:28645153|PMID:30046113|PMID:30831263|PMID:31164858|PMID:31752325|PMID:32020600|PMID:32313153|PMID:33199448 8706379 Pnpt1 polyribonucleotide nucleotidyltransferase 1 gene DOID:630 genetic disease ISO RGD:1317494 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11080643|PMID:23084291|PMID:24088041|PMID:25326635|PMID:25457163|PMID:25741868|PMID:26633545|PMID:27759031|PMID:28492532|PMID:28594066|PMID:28645153|PMID:30046113|PMID:30244537|PMID:30831263|PMID:31164858|PMID:31752325|PMID:32020600|PMID:32313153|PMID:33199448|PMID:34740920|PMID:36147510 8706379 Pnpt1 polyribonucleotide nucleotidyltransferase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1317494 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 8706379 Pnpt1 polyribonucleotide nucleotidyltransferase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317494 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:11080643|PMID:25326635|PMID:25457163|PMID:25741868|PMID:28492532|PMID:30046113|PMID:30831263|PMID:31752325|PMID:32020600|PMID:32313153 8706379 Pnpt1 polyribonucleotide nucleotidyltransferase 1 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1317494 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:c.1424A>G(p.E475G)(human) PMID:23084290|REF_RGD_ID:11554169 8706379 Pnpt1 polyribonucleotide nucleotidyltransferase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1317494 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 8706434 Ppp3r2 protein phosphatase 3 regulatory subunit B, beta gene DOID:0081292 traumatic brain injury ISO RGD:69232 D RGD:9068941 20200609 RGD PMID:20713027|REF_RGD_ID:13830881 8706434 Ppp3r2 protein phosphatase 3 regulatory subunit B, beta gene DOID:1059 intellectual disability ISO RGD:1346251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8706434 Ppp3r2 protein phosphatase 3 regulatory subunit B, beta gene DOID:5204 fructose-1,6-bisphosphatase deficiency ISO RGD:1346251 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fructose-1-phosphate aldolase deficiency PMID:18541450|PMID:28492532 8706434 Ppp3r2 protein phosphatase 3 regulatory subunit B, beta gene DOID:9869 hereditary fructose intolerance syndrome ISO RGD:1346251 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ALDOB DEFICIENCY PMID:18541450|PMID:28492532 8706442 Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:0050700 cardiomyopathy ISO RGD:1316107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14729820 8706442 Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1316107 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:17576681|PMID:20818383|PMID:20819849|PMID:22200994|PMID:24215330|PMID:24642831|PMID:25741868|PMID:27502960|PMID:27604308|PMID:28031252|PMID:28492532|PMID:29573043|PMID:9536098 8706442 Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1316107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 8706442 Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:0112066 nuclear type mitochondrial complex I deficiency 6 ISO RGD:1316107 D RGD:7240710 20190315 OMIM 8706442 Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:0112066 nuclear type mitochondrial complex I deficiency 6 ISO RGD:1316107 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6 PMID:11220739|PMID:17576681|PMID:20818383|PMID:20819849|PMID:22200994|PMID:25741868|PMID:28031252|PMID:28492532|PMID:29272804|PMID:29353736|PMID:29573043|PMID:30634555|PMID:31180159|PMID:31411514|PMID:32180488|PMID:36462614|PMID:9536098 8706442 Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1316107 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:17576681|PMID:22200994|PMID:25741868|PMID:28031252|PMID:28492532|PMID:29573043|PMID:9536098 8706442 Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:11984 hypertrophic cardiomyopathy susceptibility ISO RGD:1316107 D RGD:9068941 20200609 RGD associated with Mitochondrial Encephalomyopathies;DNA:missense mutations: :p.R228Q, p.P229Q, p.S413P (human) PMID:11220739|REF_RGD_ID:1600573 8706442 Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:1540 parathyroid carcinoma ISO RGD:1316107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8706442 Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:2377 multiple sclerosis ISO RGD:1316107 D RGD:9068941 20200609 RGD PMID:18682780|REF_RGD_ID:6482255 8706442 Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:3652 Leigh disease ISO RGD:1316107 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.M292T (human) PMID:20819849|REF_RGD_ID:6482269 8706442 Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:5723 optic atrophy ISO RGD:1316107 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 8706442 Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:630 genetic disease ISO RGD:1316107 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20818383|PMID:20819849|PMID:24215330|PMID:24642831|PMID:25741868|PMID:27502960|PMID:27604308|PMID:28050010|PMID:28492532|PMID:29272804|PMID:29353736|PMID:29573043|PMID:31180159|PMID:32180488 8706442 Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:655 inherited metabolic disorder ISO RGD:1316107 D RGD:9068941 20200609 RGD mitochondrial complex I deficiency, OMIM:252010, DNA:point mutation:exon:R228Q PMID:11220739|REF_RGD_ID:1600573 8706442 Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:705 Leber hereditary optic neuropathy ISO RGD:1316107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber optic atrophy PMID:25741868 8706442 Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:890 mitochondrial encephalomyopathy ISO RGD:1316107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14729820 8706442 Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:9000200 Leber Hereditary Optic Neuropathy, Autosomal Recessive 2 ISO RGD:1316107 D RGD:7240710 20231115 OMIM 8706442 Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:9000200 Leber Hereditary Optic Neuropathy, Autosomal Recessive 2 ISO RGD:1316107 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Leber hereditary optic neuropathy, autosomal recessive 2 | ClinVar Annotator: match by term: NDUFS2-related condition PMID:17576681|PMID:20818383|PMID:22200994|PMID:25741868|PMID:28031252|PMID:28050010|PMID:28492532|PMID:9536098 8706442 Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1307109 D RGD:9068941 20200609 RGD protein:decreased expression:dorsal root ganglia (rat) PMID:20876714|REF_RGD_ID:6484699 8706442 Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1316107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8706460 Asap1 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 gene DOID:11054 urinary bladder cancer ISO RGD:1354069 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26039340 8706460 Asap1 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 gene DOID:2957 pulmonary tuberculosis ISO RGD:1354069 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25774636 8706460 Asap1 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1354069 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8706504 Tmem248 transmembrane protein 248 gene DOID:14755 argininosuccinic aciduria ISO RGD:1602880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Argininosuccinate lyase deficiency PMID:28492532 8706504 Tmem248 transmembrane protein 248 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1602880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8706521 Lrrc14 leucine rich repeat containing 14 gene DOID:0050654 Baller-Gerold syndrome ISO RGD:1348401 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Baller-Gerold syndrome PMID:12734318|PMID:12952869|PMID:28492532 8706521 Lrrc14 leucine rich repeat containing 14 gene DOID:9003884 Recombinant Chromosome 8 Syndrome ISO RGD:1348401 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Recombinant 8 syndrome PMID:31690835 8706553 Tial1 TIA1 cytotoxic granule associated RNA binding protein like 1 gene DOID:224 transient cerebral ischemia ISO RGD:1595845 D RGD:9068941 20200609 RGD PMID:10700014|REF_RGD_ID:1357161 8706553 Tial1 TIA1 cytotoxic granule associated RNA binding protein like 1 gene DOID:3069 malignant astrocytoma ISO RGD:1345557 D RGD:9068941 20220707 CTD CTD Direct Evidence: marker/mechanism PMID:27106762 8706553 Tial1 TIA1 cytotoxic granule associated RNA binding protein like 1 gene DOID:9000918 Disease Progression ISO RGD:1345557 D RGD:9068941 20220707 CTD CTD Direct Evidence: marker/mechanism PMID:27106762 8706553 Tial1 TIA1 cytotoxic granule associated RNA binding protein like 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1345557 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8706591 Klf17 KLF transcription factor 17 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1344784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8706591 Klf17 KLF transcription factor 17 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1344784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8706591 Klf17 KLF transcription factor 17 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1344784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8706603 Pkn1 protein kinase N1 gene DOID:9002514 Neointima ameliorates ISO RGD:69308 D RGD:9068941 20230413 RGD PMID:22893700|REF_RGD_ID:243065233 8706640 Hao2 hydroxyacid oxidase 2 gene DOID:0050722 PHGDH deficiency ISO RGD:1346012 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PHGDH deficiency PMID:14645240|PMID:24836451|PMID:28492532 8706640 Hao2 hydroxyacid oxidase 2 gene DOID:13580 cholestasis ISO RGD:1346012 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 8706640 Hao2 hydroxyacid oxidase 2 gene DOID:2736 Hajdu-Cheney syndrome ISO RGD:1346012 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hajdu-Cheney syndrome PMID:28492532 8706640 Hao2 hydroxyacid oxidase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1346012 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8706640 Hao2 hydroxyacid oxidase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1346012 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980|PMID:25380136 8706640 Hao2 hydroxyacid oxidase 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1346012 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 8706654 Ndel1 nudE neurodevelopment protein 1 like 1 gene DOID:5419 schizophrenia ISO RGD:1352165 D RGD:9068941 20200609 RGD mRNA:decreased expression:hipocampus,dorsolateral prefrontal cortex: PMID:16510495|REF_RGD_ID:12790585 8706654 Ndel1 nudE neurodevelopment protein 1 like 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1352165 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8706693 Plscr3 phospholipid scramblase 3 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1315960 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 8706693 Plscr3 phospholipid scramblase 3 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1315960 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 8706693 Plscr3 phospholipid scramblase 3 gene DOID:1059 intellectual disability ISO RGD:1315960 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 8706693 Plscr3 phospholipid scramblase 3 gene DOID:12177 common variable immunodeficiency ISO RGD:1315960 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:28492532 8706693 Plscr3 phospholipid scramblase 3 gene DOID:2729 dyskeratosis congenita ISO RGD:1315960 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 8706693 Plscr3 phospholipid scramblase 3 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1315960 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 8706693 Plscr3 phospholipid scramblase 3 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1315960 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 8706693 Plscr3 phospholipid scramblase 3 gene DOID:9970 obesity ISO RGD:1315961 D RGD:9068941 20220825 MouseDO OMIM:601665 8706715 Tmem243 transmembrane protein 243 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1349104 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8706723 Gmps guanine monophosphate synthase gene DOID:0081082 acute myelomonocytic leukemia ISO RGD:1320749 D RGD:9068941 20200609 RGD treatment-related acute type M4 myeloid leukemia; chromosomal translocation resulted in a fusion of MLL and GMPS genes PMID:11110714|REF_RGD_ID:1598998 8706723 Gmps guanine monophosphate synthase gene DOID:684 hepatocellular carcinoma ISO RGD:1310063 D RGD:9068941 20200609 RGD protein:increased activity:hepatoma (rat) PMID:6861338|REF_RGD_ID:5135537 8706723 Gmps guanine monophosphate synthase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1310063 D RGD:9068941 20200609 RGD protein:increased activity:liver (rat) PMID:3043317|REF_RGD_ID:5135485 8706723 Gmps guanine monophosphate synthase gene DOID:9005715 Neoplasms, Second Primary ISO RGD:1320749 D RGD:9068941 20200609 RGD treatment-related acute type M4 myeloid leukemia; chromosomal translocation resulted in a fusion of MLL and GMPS genes PMID:11110714|REF_RGD_ID:1598998 8706749 Prpf8 pre-mRNA processing factor 8 gene DOID:0060673 Peters anomaly ISO RGD:1313510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis PMID:26893459 8706749 Prpf8 pre-mRNA processing factor 8 gene DOID:0110381 retinitis pigmentosa 14 ISO RGD:1313510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 14 8706749 Prpf8 pre-mRNA processing factor 8 gene DOID:0110403 retinitis pigmentosa 13 ISO RGD:1313510 D RGD:7240710 20180130 OMIM 8706749 Prpf8 pre-mRNA processing factor 8 gene DOID:0110403 retinitis pigmentosa 13 ISO RGD:1313510 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: PRPF8-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 13 PMID:11468273|PMID:11910553|PMID:12714658|PMID:16199547|PMID:16799052|PMID:17061239|PMID:17576681|PMID:18695108|PMID:20232351|PMID:21378395|PMID:22039234|PMID:23484092|PMID:23950152|PMID:24938718|PMID:25741868|PMID:27208204|PMID:28041643|PMID:28076437|PMID:28492532|PMID:28515276|PMID:29087248|PMID:29847639|PMID:30360737|PMID:31054281|PMID:31213501|PMID:31456290|PMID:31725702|PMID:32424050|PMID:32531858|PMID:32581362|PMID:33090715|PMID:33494148|PMID:33576794|PMID:33712029|PMID:33749171|PMID:33946315|PMID:34716235|PMID:34758253|PMID:34906470|PMID:35138024|PMID:35543142|PMID:36819107|PMID:36909829|PMID:9536098 8706749 Prpf8 pre-mRNA processing factor 8 gene DOID:10584 retinitis pigmentosa ISO RGD:1313510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:11468273|PMID:12714658|PMID:16799052|PMID:17576681|PMID:21378395|PMID:24938718|PMID:25741868|PMID:28041643|PMID:28492532|PMID:28515276|PMID:30718709|PMID:31725702|PMID:9536098 8706749 Prpf8 pre-mRNA processing factor 8 gene DOID:10584 retinitis pigmentosa ISO RGD:1313510 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:11468273|PMID:12714658|PMID:16799052|PMID:17576681|PMID:21378395|PMID:24938718|PMID:25741868|PMID:28041643|PMID:28492532|PMID:28515276|PMID:30718709|PMID:31725702|PMID:32531858|PMID:34906470|PMID:36909829|PMID:9536098 8706749 Prpf8 pre-mRNA processing factor 8 gene DOID:10584 retinitis pigmentosa ISO RGD:1313510 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:11468273|PMID:12714658|PMID:16799052|PMID:17576681|PMID:21378395|PMID:24938718|PMID:25741868|PMID:28041643|PMID:28492532|PMID:28515276|PMID:29847639|PMID:30718709|PMID:31213501|PMID:31456290|PMID:31725702|PMID:32531858|PMID:32581362|PMID:33090715|PMID:33494148|PMID:33712029|PMID:33749171|PMID:34716235|PMID:34758253|PMID:34906470|PMID:35138024|PMID:36909829|PMID:9536098 8706749 Prpf8 pre-mRNA processing factor 8 gene DOID:10584 retinitis pigmentosa ISO RGD:1313510 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:11468273|PMID:12714658|PMID:16799052|PMID:17576681|PMID:20232351|PMID:21378395|PMID:24938718|PMID:25741868|PMID:28041643|PMID:28492532|PMID:28515276|PMID:29847639|PMID:30718709|PMID:31213501|PMID:31456290|PMID:31725702|PMID:32531858|PMID:32581362|PMID:33090715|PMID:33494148|PMID:33712029|PMID:33749171|PMID:34716235|PMID:34758253|PMID:34906470|PMID:35138024|PMID:36909829|PMID:9536098 8706749 Prpf8 pre-mRNA processing factor 8 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1313510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 8706749 Prpf8 pre-mRNA processing factor 8 gene DOID:630 genetic disease ISO RGD:1313510 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Disorder | ClinVar Annotator: match by term: Inborn genetic diseases PMID:19344873|PMID:27535533|PMID:28492532|PMID:28559085|PMID:28761320|PMID:28798898|PMID:33157387|PMID:33598457|PMID:33781268|PMID:34321860 8706749 Prpf8 pre-mRNA processing factor 8 gene DOID:630 genetic disease ISO RGD:1313510 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19344873|PMID:25741868|PMID:27535533|PMID:28492532|PMID:28559085|PMID:28761320|PMID:28798898|PMID:33157387|PMID:33598457|PMID:33781268|PMID:34321860|PMID:36819107 8706749 Prpf8 pre-mRNA processing factor 8 gene DOID:8501 fundus dystrophy ISO RGD:1313510 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11468273|PMID:11910553|PMID:12714658|PMID:16799052|PMID:17061239|PMID:18695108|PMID:20232351|PMID:21378395|PMID:23950152|PMID:24938718|PMID:25097241|PMID:25741868|PMID:27208204|PMID:27391102|PMID:28041643|PMID:28076437|PMID:28492532|PMID:28515276|PMID:28559085|PMID:28707069|PMID:28761320|PMID:28798898|PMID:29847639|PMID:30029497|PMID:31087526|PMID:31213501|PMID:31456290|PMID:31725702|PMID:32531858|PMID:32581362|PMID:33090715|PMID:33157387|PMID:33494148|PMID:33576794|PMID:33598457|PMID:33712029|PMID:33749171|PMID:33781268|PMID:34321860|PMID:34716235|PMID:34758253|PMID:34906470|PMID:35138024|PMID:3646071|PMID:36460718|PMID:36819107|PMID:36909829 8706749 Prpf8 pre-mRNA processing factor 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313510 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:22039234|PMID:25741868|PMID:29087248|PMID:35543142 8706749 Prpf8 pre-mRNA processing factor 8 gene DOID:9007096 Stroke ISO RGD:1313510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29531354 8706749 Prpf8 pre-mRNA processing factor 8 gene DOID:9008582 Developmental Disease ISO RGD:1313510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8706812 Mest mesoderm specific transcript gene DOID:0050476 Barth syndrome ISO RGD:1621604 D RGD:9068941 20220825 MouseDO OMIM:302060 8706812 Mest mesoderm specific transcript gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1345318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8706812 Mest mesoderm specific transcript gene DOID:9004657 Weight Gain ISO RGD:1345318 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 8706812 Mest mesoderm specific transcript gene DOID:9007491 Childhood Schizophrenia ISO RGD:1345318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Childhood-onset schizophrenia PMID:26508570 8706848 Cct4 chaperonin containing TCP1 subunit 4 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:727937 D RGD:9068941 20200609 RGD PMID:12874111|REF_RGD_ID:1299607 8706848 Cct4 chaperonin containing TCP1 subunit 4 gene DOID:5419 schizophrenia ISO RGD:1345648 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8706876 Tmem278 transmembrane protein 278 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:2802463 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8706876 Tmem278 transmembrane protein 278 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:2802463 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 8706876 Tmem278 transmembrane protein 278 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:2802463 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:23892090|PMID:28492532|PMID:31602316 8706876 Tmem278 transmembrane protein 278 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:2802463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 8706876 Tmem278 transmembrane protein 278 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:2802463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 8706876 Tmem278 transmembrane protein 278 gene DOID:0110994 Joubert syndrome 25 ISO RGD:2802463 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8706876 Tmem278 transmembrane protein 278 gene DOID:0111934 immunodeficiency 38 ISO RGD:2802463 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8706876 Tmem278 transmembrane protein 278 gene DOID:0111935 immunodeficiency 16 ISO RGD:2802463 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8706876 Tmem278 transmembrane protein 278 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2802463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8706876 Tmem278 transmembrane protein 278 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:2802463 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:23892090|PMID:28492532|PMID:31602316 8706876 Tmem278 transmembrane protein 278 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:2802463 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8706876 Tmem278 transmembrane protein 278 gene DOID:9009315 Idiopathic Generalized Epilepsy ISO RGD:2802463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8706882 Mospd1 motile sperm domain containing 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8706882 Mospd1 motile sperm domain containing 1 gene DOID:0111823 autosomal hemophilia A ISO RGD:1347086 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A PMID:31690835 8706882 Mospd1 motile sperm domain containing 1 gene DOID:12134 factor VIII deficiency ISO RGD:1347086 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Factor 8 deficiency, congenital PMID:31690835 8706882 Mospd1 motile sperm domain containing 1 gene DOID:12849 autistic disorder ISO RGD:1347086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8706896 Pycr1 pyrroline-5-carboxylate reductase 1 gene DOID:0070137 autosomal recessive cutis laxa type IIB ISO RGD:1317303 D RGD:7240710 20180130 OMIM 8706896 Pycr1 pyrroline-5-carboxylate reductase 1 gene DOID:0070137 autosomal recessive cutis laxa type IIB ISO RGD:1317303 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Autosomal recessive cutis laxa type 2B | ClinVar Annotator: match by term: CUTIS LAXA WITH PROGEROID FEATURES PMID:11424136|PMID:16045708|PMID:16199547|PMID:16233902|PMID:18304158|PMID:18348262|PMID:19576563|PMID:19648921|PMID:21834030|PMID:23963297|PMID:24035636|PMID:25741868|PMID:25741869|PMID:25865492|PMID:26516448|PMID:28194412|PMID:28294978|PMID:28454995|PMID:28492532|PMID:28499588|PMID:30138938|PMID:30450527|PMID:31108370|PMID:32860008|PMID:33125268|PMID:35599849 8706896 Pycr1 pyrroline-5-carboxylate reductase 1 gene DOID:0070138 autosomal recessive cutis laxa type IIIB ISO RGD:1317303 D RGD:7240710 20180130 OMIM 8706896 Pycr1 pyrroline-5-carboxylate reductase 1 gene DOID:0070138 autosomal recessive cutis laxa type IIIB ISO RGD:1317303 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB | ClinVar Annotator: match by term: DE BARSY SYNDROME B | ClinVar Annotator: match by term: PYCR1-related condition PMID:16199547|PMID:16233902|PMID:17576681|PMID:18348262|PMID:19648921|PMID:21567914|PMID:22052856|PMID:23406396|PMID:23963297|PMID:24035636|PMID:25741868|PMID:25865492|PMID:28194412|PMID:28454995|PMID:28492532|PMID:30138938|PMID:30450527|PMID:32860008|PMID:4076251|PMID:9536098 8706896 Pycr1 pyrroline-5-carboxylate reductase 1 gene DOID:0080600 COVID-19 ISO RGD:1317303 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8706896 Pycr1 pyrroline-5-carboxylate reductase 1 gene DOID:0081333 Wiedemann-Rautenstrauch syndrome ISO RGD:1317303 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: POLR3A-related disorders | ClinVar Annotator: match by term: Wiedemann-Rautenstrauch-like progeroid syndrome PMID:16199547|PMID:16233902|PMID:18348262|PMID:19648921|PMID:21834030|PMID:23963297|PMID:24035636|PMID:25741868|PMID:25865492|PMID:28194412|PMID:28492532|PMID:30450527|PMID:32860008|PMID:4076251 8706896 Pycr1 pyrroline-5-carboxylate reductase 1 gene DOID:10907 microcephaly ISO RGD:1317303 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:21739576|PMID:24913064|PMID:25741868|PMID:28492532 8706896 Pycr1 pyrroline-5-carboxylate reductase 1 gene DOID:3144 cutis laxa ISO RGD:1317303 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Cutis laxa PMID:16199547|PMID:16233902|PMID:18304158|PMID:19576563|PMID:19648921|PMID:21739576|PMID:21834030|PMID:23531708|PMID:23963297|PMID:24035636|PMID:24913064|PMID:25741868|PMID:25741869|PMID:25865492|PMID:26516448|PMID:28294978|PMID:28492532|PMID:30138938|PMID:30450527|PMID:33125268 8706896 Pycr1 pyrroline-5-carboxylate reductase 1 gene DOID:3911 progeria ISO RGD:1317303 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19648921 8706896 Pycr1 pyrroline-5-carboxylate reductase 1 gene DOID:630 genetic disease ISO RGD:1317303 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:16233902|PMID:18304158|PMID:19576563|PMID:19648921|PMID:24035636|PMID:25741868|PMID:25741869|PMID:26516448|PMID:28294978|PMID:28492532|PMID:30138938|PMID:30450527|PMID:33125268|PMID:4076251 8706896 Pycr1 pyrroline-5-carboxylate reductase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317303 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8706896 Pycr1 pyrroline-5-carboxylate reductase 1 gene DOID:9002034 Autosomal Recessive Cutis Laxa ISO RGD:1317303 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis Laxa, Recessive 8706913 Ube2v2 ubiquitin conjugating enzyme E2 V2 gene DOID:0111961 immunodeficiency 26 ISO RGD:1318163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to DNA-PKcs deficiency PMID:28492532 8706926 Creg1 cellular repressor of E1A stimulated genes 1 gene DOID:0080600 COVID-19 ISO RGD:1348156 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8706926 Creg1 cellular repressor of E1A stimulated genes 1 gene DOID:0111942 immunodeficiency 25 ISO RGD:1348156 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 25 PMID:28492532 8706926 Creg1 cellular repressor of E1A stimulated genes 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1348156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8706926 Creg1 cellular repressor of E1A stimulated genes 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1348156 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8706926 Creg1 cellular repressor of E1A stimulated genes 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1348156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8706926 Creg1 cellular repressor of E1A stimulated genes 1 gene DOID:9775 diastolic heart failure ISO RGD:1348156 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 8706936 Apod apolipoprotein D gene DOID:10652 Alzheimer's disease ISO RGD:737460 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid, hippocampus PMID:9751198|REF_RGD_ID:2311209 8706936 Apod apolipoprotein D gene DOID:11714 gestational diabetes ISO RGD:737460 D RGD:9068941 20200609 RGD PMID:6828336|REF_RGD_ID:2311180 8706936 Apod apolipoprotein D gene DOID:1289 neurodegenerative disease ISO RGD:737460 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18458334 8706936 Apod apolipoprotein D gene DOID:1824 status epilepticus ISO RGD:2137 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:10372566|REF_RGD_ID:2311203 8706936 Apod apolipoprotein D gene DOID:3070 high grade glioma ISO RGD:737460 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16865689 8706936 Apod apolipoprotein D gene DOID:4762 vasculogenic impotence ISO RGD:2137 D RGD:9068941 20200609 RGD mRNA:increased expression:penis erectile tissue PMID:11444882|REF_RGD_ID:2311196 8706936 Apod apolipoprotein D gene DOID:8927 learning disability ISO RGD:737460 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18419796 8706936 Apod apolipoprotein D gene DOID:9000831 Hypokinesia ISO RGD:737460 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21688324 8706936 Apod apolipoprotein D gene DOID:9000998 Brain Injuries ISO RGD:2137 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cerebral cortex, glia cell, neuron PMID:10501208|REF_RGD_ID:2311202 8706936 Apod apolipoprotein D gene DOID:9007096 Stroke ISO RGD:2137 D RGD:9068941 20200609 RGD PMID:17851453|REF_RGD_ID:2311182 8706936 Apod apolipoprotein D gene DOID:9352 type 2 diabetes mellitus ISO RGD:737460 D RGD:9068941 20200609 RGD PMID:15369805|REF_RGD_ID:2311177 8706936 Apod apolipoprotein D gene DOID:9352 type 2 diabetes mellitus ISO RGD:737460 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:7895459|REF_RGD_ID:2311178 8706936 Apod apolipoprotein D gene DOID:9970 obesity ISO RGD:737460 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:7913935|REF_RGD_ID:2311179 8706948 Pgap1 post-GPI attachment to proteins inositol deacylase 1 gene DOID:0081220 autosomal recessive intellectual developmental disorder 58 ISO RGD:1605037 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 58 PMID:28492532 8706948 Pgap1 post-GPI attachment to proteins inositol deacylase 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1605037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:25741868|PMID:28492532 8706948 Pgap1 post-GPI attachment to proteins inositol deacylase 1 gene DOID:4621 holoprosencephaly ISO RGD:1619812 D RGD:9068941 20220825 MouseDO 8706948 Pgap1 post-GPI attachment to proteins inositol deacylase 1 gene DOID:630 genetic disease ISO RGD:1605037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17711852|PMID:25741868|PMID:26050939|PMID:27848944|PMID:28492532 8706948 Pgap1 post-GPI attachment to proteins inositol deacylase 1 gene DOID:9002189 High Myopia ISO RGD:1605037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 8706948 Pgap1 post-GPI attachment to proteins inositol deacylase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605037 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532 8706948 Pgap1 post-GPI attachment to proteins inositol deacylase 1 gene DOID:9005335 Cerebral Visual Impairment and Intellectual Disability ISO RGD:1605037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability PMID:25804403|PMID:26350515 8706948 Pgap1 post-GPI attachment to proteins inositol deacylase 1 gene DOID:9006299 Mental Retardation, Autosomal Recessive 42 ISO RGD:1605037 D RGD:7240710 20180130 OMIM 8706948 Pgap1 post-GPI attachment to proteins inositol deacylase 1 gene DOID:9006299 Mental Retardation, Autosomal Recessive 42 ISO RGD:1605037 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 9 | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FEATURES, SPASTICITY, AND BRAIN ABNORMALITIES | ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities PMID:16199547|PMID:17576681|PMID:17711852|PMID:24482476|PMID:25741868|PMID:25804403|PMID:25823418|PMID:26050939|PMID:26350515|PMID:27848944|PMID:28492532|PMID:34906502|PMID:9536098 8706978 Sfrp4 secreted frizzled related protein 4 gene DOID:0080019 metaphyseal dysplasia ISO RGD:1350997 D RGD:7240710 20190315 OMIM 8706978 Sfrp4 secreted frizzled related protein 4 gene DOID:0080019 metaphyseal dysplasia ISO RGD:1350997 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Pyle metaphyseal dysplasia | ClinVar Annotator: match by term: Pyle's disease | ClinVar Annotator: match by term: SFRP4-related condition PMID:25741868|PMID:27355534|PMID:28492532|PMID:33193738 8706978 Sfrp4 secreted frizzled related protein 4 gene DOID:0110606 primary ciliary dyskinesia 6 ISO RGD:1350997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 6 PMID:28492532 8706978 Sfrp4 secreted frizzled related protein 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1350997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8706978 Sfrp4 secreted frizzled related protein 4 gene DOID:5119 ovarian cyst ISO RGD:1350997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 8706978 Sfrp4 secreted frizzled related protein 4 gene DOID:630 genetic disease ISO RGD:1350997 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8706978 Sfrp4 secreted frizzled related protein 4 gene DOID:9002457 Experimental Arthritis ISO RGD:1350997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25194984 8706978 Sfrp4 secreted frizzled related protein 4 gene DOID:9007102 Myocardial Ischemia ISO RGD:621075 D RGD:9068941 20200609 RGD PMID:20528676|REF_RGD_ID:4107721 8706978 Sfrp4 secreted frizzled related protein 4 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1350997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17923031 8706978 Sfrp4 secreted frizzled related protein 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1350997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23140642 8706988 Pten phosphatase and tensin homolog gene DOID:0050562 West syndrome ISO RGD:69119 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Infantile spasm PMID:16704655|PMID:19457929|PMID:20926450|PMID:21956414|PMID:24778394|PMID:25669429|PMID:25741868|PMID:26246517|PMID:27514801|PMID:28492532|PMID:28523199|PMID:29296277|PMID:29706350|PMID:29785012|PMID:32003824|PMID:37673932|PMID:9288766|PMID:9600246 8706988 Pten phosphatase and tensin homolog gene DOID:0050657 Bannayan-Riley-Ruvalcaba syndrome ISO RGD:69119 D RGD:7240710 20250305 OMIM 8706988 Pten phosphatase and tensin homolog gene DOID:0050657 Bannayan-Riley-Ruvalcaba syndrome ISO RGD:69119 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Bannayan-Riley-Ruvalcaba syndrome | ClinVar Annotator: match by term: Cowden syndrome 1 | ClinVar Annotator: match by term: Macrocephaly pseudopapilledema and multiple hemangiomas PMID:10051603|PMID:10076877|PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10554022|PMID:10555148|PMID:10606430|PMID:10698513|PMID:10698713|PMID:10749983|PMID:10772390|PMID:10772829|PMID:10777358|PMID:10848731|PMID:10866302|PMID:10866658|PMID:10920277|PMID:10923032|PMID:1097835|PMID:10978354|PMID:11035045|PMID:11051241|PMID:11052475|PMID:11071384|PMID:11156408|PMID:11234884|PMID:11238682|PMID:11332402|PMID:11448956|PMID:1147684|PMID:11476841|PMID:11668501|PMID:11685670|PMID:11748304|PMID:11875759|PMID:11886535|PMID:11918710|PMID:11948419|PMID:12075083|PMID:12085208|PMID:12208743|PMID:12297295|PMID:12372056|PMID:12414663|PMID:12471211|PMID:12614768|PMID:12808147|PMID:12833416|PMID:12844284|PMID:12938083|PMID:1336932|PMID:14518070|PMID:14566704|PMID:14623110|PMID:14675182|PMID:15120218|PMID:15211648|PMID:15355975|PMID:15372512|PMID:15492994|PMID:15531530|PMID:15659546|PMID:15805158|PMID:16007494|PMID:16014636|PMID:16021145|PMID:16199547|PMID:16506206|PMID:16619501|PMID:16704655|PMID:16752378|PMID:16773562|PMID:16894538|PMID:16952599|PMID:17043057|PMID:17167516|PMID:17213812|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17427195|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17847000|PMID:17873119|PMID:17873882|PMID:17898811|PMID:17928923|PMID:17941496|PMID:17942903|PMID:17954274|PMID:18025323|PMID:18080326|PMID:18558293|PMID:18594467|PMID:18626099|PMID:18757403|PMID:18781614|PMID:18986487|PMID:19190598|PMID:19265751|PMID:19340001|PMID:1945792|PMID:19457929|PMID:19458356|PMID:19622968|PMID:19829307|PMID:19968660|PMID:20194734|PMID:20223021|PMID:20300775|PMID:20301661|PMID:20533527|PMID:20600018|PMID:20685300|PMID:20712882|PMID:20718038|PMID:20785012|PMID:20926450|PMID:20962022|PMID:21103832|PMID:21190448|PMID:21194675|PMID:21291452|PMID:21333374|PMID:21343951|PMID:21417916|PMID:21475810|PMID:21532617|PMID:21659347|PMID:21822720|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22005521|PMID:22076652|PMID:22261759|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22371648|PMID:22381246|PMID:22413754|PMID:22469695|PMID:22491738|PMID:22503188|PMID:22505997|PMID:22520842|PMID:22536362|PMID:22558107|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22911484|PMID:22962422|PMID:22970944|PMID:23066114|PMID:23117110|PMID:23160955|PMID:23161105|PMID:23315997|PMID:2333580|PMID:23335809|PMID:23349303|PMID:23361946|PMID:2338203|PMID:23382303|PMID:23399955|PMID:23423780|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23613428|PMID:23633456|PMID:23695273|PMID:23744781|PMID:23757202|PMID:23764071|PMID:23825907|PMID:23886400|PMID:23930209|PMID:23934111|PMID:23934601|PMID:24022303|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24123798|PMID:24136893|PMID:24292679|PMID:24345843|PMID:24375884|PMID:24379037|PMID:24404930|PMID:24468202|PMID:24498881|PMID:24721394|PMID:24728327|PMID:24763289|PMID:24766807|PMID:24768297|PMID:24778394|PMID:24901346|PMID:24905788|PMID:25132236|PMID:25148578|PMID:25157968|PMID:25186627|PMID:25288137|PMID:25326635|PMID:25336918|PMID:25418537|PMID:25437057|PMID:25448482|PMID:25525159|PMID:25527629|PMID:25549896|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25875300|PMID:25910213|PMID:25944380|PMID:25980754|PMID:26076150|PMID:26082588|PMID:26099045|PMID:26124082|PMID:26157835|PMID:26229595|PMID:26246517|PMID:26302789|PMID:26376867|PMID:26418532|PMID:26467025|PMID:26468640|PMID:26492180|PMID:26504226|PMID:26517354|PMID:26534844|PMID:26572169|PMID:26579216|PMID:26580448|PMID:26612463|PMID:26633542|PMID:26637798|PMID:26681312|PMID:26773036|PMID:26787237|PMID:26795104|PMID:26798346|PMID:26800850|PMID:26845104|PMID:26898890|PMID:26919320|PMID:27157322|PMID:27324988|PMID:27405757|PMID:27426521|PMID:27428751|PMID:27477328|PMID:27481051|PMID:27489861|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27829222|PMID:27878467|PMID:27884173|PMID:27978560|PMID:28008555|PMID:28013114|PMID:28086757|PMID:28135145|PMID:28235761|PMID:28251007|PMID:28263967 8706988 Pten phosphatase and tensin homolog gene DOID:0050657 Bannayan-Riley-Ruvalcaba syndrome ISO RGD:69119 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Bannayan-Riley-Ruvalcaba syndrome | ClinVar Annotator: match by term: Cowden syndrome 1 | ClinVar Annotator: match by term: Macrocephaly pseudopapilledema and multiple hemangiomas PMID:28286253|PMID:28418444|PMID:28454995|PMID:28475857|PMID:28492532|PMID:28497778|PMID:28523199|PMID:28526761|PMID:28600779|PMID:28655553|PMID:28677221|PMID:28724667|PMID:28741261|PMID:28774669|PMID:28873162|PMID:29043291|PMID:29152901|PMID:29273943|PMID:29282348|PMID:29296277|PMID:29359449|PMID:29371908|PMID:29373119|PMID:29444762|PMID:29496690|PMID:29510612|PMID:29594054|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29720545|PMID:29752200|PMID:29758562|PMID:29785012|PMID:29806868|PMID:29874181|PMID:29927861|PMID:29931205|PMID:29970488|PMID:30181857|PMID:30287823|PMID:30311369|PMID:30311380|PMID:30327747|PMID:30443844|PMID:30482242|PMID:30528446|PMID:30544257|PMID:30614812|PMID:30659124|PMID:30680046|PMID:30763456|PMID:30809968|PMID:30978501|PMID:31006514|PMID:31079897|PMID:31144778|PMID:31149344|PMID:31159747|PMID:31199785|PMID:31209962|PMID:31220904|PMID:31336731|PMID:31567591|PMID:31594918|PMID:31636093|PMID:31664961|PMID:31970404|PMID:32003824|PMID:32037394|PMID:32123317|PMID:32150788|PMID:32162695|PMID:32185379|PMID:32190315|PMID:32196895|PMID:32238909|PMID:32295079|PMID:32350270|PMID:32366478|PMID:32378608|PMID:32442409|PMID:32461083|PMID:32461654|PMID:32664367|PMID:32670512|PMID:32885271|PMID:32959437|PMID:33077954|PMID:33083010|PMID:33088792|PMID:33372952|PMID:33471991|PMID:33482532|PMID:33600059|PMID:33723755|PMID:33876391|PMID:33887726|PMID:34184188|PMID:34268892|PMID:34308366|PMID:34326862|PMID:34386506|PMID:34518631|PMID:34625746|PMID:34793697|PMID:34906515|PMID:35102303|PMID:35227301|PMID:35241692|PMID:35264596|PMID:35278038|PMID:35534676|PMID:35888045|PMID:35931053|PMID:35971940|PMID:35982159|PMID:36270489|PMID:36453251|PMID:36833222|PMID:36974006|PMID:36988593|PMID:37035742|PMID:37090027|PMID:37307869|PMID:37673932|PMID:37819013|PMID:38311546|PMID:38335860|PMID:38546160|PMID:38645101|PMID:7728760|PMID:8071972|PMID:8673088|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9265751|PMID:9288766|PMID:9326929|PMID:9356475|PMID:9399897|PMID:9425889|PMID:9467011|PMID:9536098|PMID:9600246|PMID:9619835|PMID:9685848|PMID:9735393|PMID:9740666|PMID:9788441|PMID:9794233|PMID:9811831|PMID:9832031|PMID:9832032|PMID:9856571|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:0050696 fetal alcohol spectrum disorder ISO RGD:61995 D RGD:9068941 20200609 RGD Protein:increased expression, increased activity:cerebellum (rat) PMID:12700235|REF_RGD_ID:12801493 8706988 Pten phosphatase and tensin homolog gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:69119 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Diffuse large B cell lymphoma PMID:10468583|PMID:10698513|PMID:10866302|PMID:10866658|PMID:11035045|PMID:12297295|PMID:17526800|PMID:17526801|PMID:21194675|PMID:21956414|PMID:22628360|PMID:24778394|PMID:24905788|PMID:25157968|PMID:25336918|PMID:25448482|PMID:25669429|PMID:25741868|PMID:25944380|PMID:26467025|PMID:28475857|PMID:28492532|PMID:28526761|PMID:29874181|PMID:35931053|PMID:9467011 8706988 Pten phosphatase and tensin homolog gene DOID:0050787 juvenile polyposis syndrome ISO RGD:69119 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile polyposis syndrome PMID:14526373|PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:28492532|PMID:9286463|PMID:9467011 8706988 Pten phosphatase and tensin homolog gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:69119 D RGD:9068941 20210625 RGD protein:increased expression:oral epithelium (human) PMID:33109573|REF_RGD_ID:127285606 8706988 Pten phosphatase and tensin homolog gene DOID:0050868 hepatocellular adenoma ISO RGD:62287 D RGD:9068941 20200609 RGD PMID:15199412|REF_RGD_ID:1302555 8706988 Pten phosphatase and tensin homolog gene DOID:0050868 hepatocellular adenoma ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27022031 8706988 Pten phosphatase and tensin homolog gene DOID:0050933 ovarian serous carcinoma exacerbates ISO RGD:69119 D RGD:9068941 20210625 RGD protein:increased expression:ovary, peritoneum (human) PMID:26166715|REF_RGD_ID:11532228 8706988 Pten phosphatase and tensin homolog gene DOID:0060041 autism spectrum disorder ISO RGD:69119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30763456 8706988 Pten phosphatase and tensin homolog gene DOID:0060058 lymphoma ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22287727 8706988 Pten phosphatase and tensin homolog gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:69119 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Infantile spasm PMID:16704655|PMID:19457929|PMID:20926450|PMID:21956414|PMID:24778394|PMID:25669429|PMID:25741868|PMID:26246517|PMID:27514801|PMID:28492532|PMID:28523199|PMID:29296277|PMID:29706350|PMID:29785012|PMID:32003824|PMID:37673932|PMID:9288766|PMID:9600246 8706988 Pten phosphatase and tensin homolog gene DOID:0060669 cerebral cavernous malformation ISO RGD:69119 D RGD:9068941 20200609 RGD protein:decreased expression:brain (human) PMID:19061355|REF_RGD_ID:12859036 8706988 Pten phosphatase and tensin homolog gene DOID:0060867 macrocephaly-autism syndrome ISO RGD:69119 D RGD:7240710 20250305 OMIM 8706988 Pten phosphatase and tensin homolog gene DOID:0060867 macrocephaly-autism syndrome ISO RGD:69119 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Macrocephaly-autism syndrome | ClinVar Annotator: match by term: Macrocephaly/autism syndrome PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10555148|PMID:10606430|PMID:10698513|PMID:10749983|PMID:10772390|PMID:10848731|PMID:10866302|PMID:10866658|PMID:10920277|PMID:10923032|PMID:11035045|PMID:11051241|PMID:11071384|PMID:11156408|PMID:11332402|PMID:11685670|PMID:11918710|PMID:12085208|PMID:12297295|PMID:12372056|PMID:12614768|PMID:12844284|PMID:12938083|PMID:1336932|PMID:14518070|PMID:14569134|PMID:15211648|PMID:15372512|PMID:15492994|PMID:15805158|PMID:16014636|PMID:16199547|PMID:16506206|PMID:16752378|PMID:16773562|PMID:16952599|PMID:17286265|PMID:17392703|PMID:17427195|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17847000|PMID:17873119|PMID:17873882|PMID:17942903|PMID:17954274|PMID:18080326|PMID:18498243|PMID:18558293|PMID:19340001|PMID:19457929|PMID:19458356|PMID:19829307|PMID:20301661|PMID:20600018|PMID:20712882|PMID:20718038|PMID:20926450|PMID:21194675|PMID:21291452|PMID:21343951|PMID:21417916|PMID:21659347|PMID:21798997|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22252256|PMID:22266152|PMID:22320991|PMID:22381246|PMID:22491738|PMID:22505997|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22970944|PMID:23160955|PMID:23161105|PMID:23315997|PMID:23319441|PMID:23335809|PMID:23349303|PMID:2338203|PMID:23399955|PMID:23423780|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23695273|PMID:23764071|PMID:23825907|PMID:23886400|PMID:23934601|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24088041|PMID:24123798|PMID:24136893|PMID:24292679|PMID:24345843|PMID:24375884|PMID:24468202|PMID:24561254|PMID:24656806|PMID:24728327|PMID:24763289|PMID:24778394|PMID:24809327|PMID:25132236|PMID:25157968|PMID:25186627|PMID:25288137|PMID:25326635|PMID:25326637|PMID:25418537|PMID:25525159|PMID:25527629|PMID:25549896|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25875300|PMID:25910213|PMID:25937288|PMID:25944380|PMID:25980754|PMID:26124082|PMID:26216063|PMID:26229595|PMID:26246517|PMID:26279303|PMID:26467025|PMID:26579216|PMID:26580448|PMID:26612463|PMID:26633542|PMID:26633545|PMID:26681312|PMID:26773036|PMID:26800850|PMID:26898890|PMID:27221918|PMID:27405757|PMID:27426521|PMID:27428751|PMID:27477328|PMID:27531073|PMID:27535533|PMID:27829222|PMID:27878467|PMID:27884173|PMID:28008555|PMID:28086757|PMID:28135145|PMID:28250423|PMID:28251007|PMID:28263967|PMID:28286253|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28526761|PMID:28655553|PMID:28677221|PMID:28724667|PMID:28755079|PMID:28821194|PMID:29048666|PMID:29273943|PMID:29371908|PMID:29373119|PMID:29389947|PMID:29594054|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29752200|PMID:29785012|PMID:29806868|PMID:29874181|PMID:29927861|PMID:29970488|PMID:30181857|PMID:30287823|PMID:30311380|PMID:30482242|PMID:30528446|PMID:30544257|PMID:30614812|PMID:30659124|PMID:30763456|PMID:30809968|PMID:30978501|PMID:30993208|PMID:31006514|PMID:31144778|PMID:31159747|PMID:31209962|PMID:31336731|PMID:31567591|PMID:32123317|PMID:32150788|PMID:32238909|PMID:32350270|PMID:32366478|PMID:32442409|PMID:32566746|PMID:32664367|PMID:32860008|PMID:32885271|PMID:33077954|PMID:33083010|PMID:33088792|PMID:33372952|PMID:33471991|PMID:33600059|PMID:33624935|PMID:33887726|PMID:34268892|PMID:34299313|PMID:34793697|PMID:34943931|PMID:35227301|PMID:35241692|PMID:35264596|PMID:35931053|PMID:36681873|PMID:36988593|PMID:38311546|PMID:38645101|PMID:39825153|PMID:792966|PMID:9140396|PMID:9241266|PMID:9259288|PMID:9399897|PMID:9467011|PMID:9536098|PMID:9600246|PMID:9685848|PMID:9832031|PMID:9832032|PMID:9856571 8706988 Pten phosphatase and tensin homolog gene DOID:0080072 intestinal pseudo-obstruction ISO RGD:62287 D RGD:9068941 20220825 MouseDO 8706988 Pten phosphatase and tensin homolog gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:69119 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hamartomatous polyposis | ClinVar Annotator: match by term: Multiple hamartoma syndrome | ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:10051603|PMID:10076877|PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10555148|PMID:10564676|PMID:10698513|PMID:10749983|PMID:10772390|PMID:10777358|PMID:10848731|PMID:10866302|PMID:10866658|PMID:10920277|PMID:10923032|PMID:1097835|PMID:10978354|PMID:11035045|PMID:11052475|PMID:11071384|PMID:11108659|PMID:11156408|PMID:11238682|PMID:11274365|PMID:11332402|PMID:11355302|PMID:11476841|PMID:11494117|PMID:11504908|PMID:11684570|PMID:11685670|PMID:11748304|PMID:11875759|PMID:11918710|PMID:11939587|PMID:11948419|PMID:12085208|PMID:12208743|PMID:12297295|PMID:12372056|PMID:12471211|PMID:12614768|PMID:12788938|PMID:12844284|PMID:12938083|PMID:14518070|PMID:14566704|PMID:14623110|PMID:14675182|PMID:15016963|PMID:15120218|PMID:15211648|PMID:15254419|PMID:15372512|PMID:15647370|PMID:15659546|PMID:15769473|PMID:15805158|PMID:15896465|PMID:15987703|PMID:16007494|PMID:16014636|PMID:16021145|PMID:16199547|PMID:16287957|PMID:16506206|PMID:16598737|PMID:16685657|PMID:16704655|PMID:16752378|PMID:16773562|PMID:16894538|PMID:16952599|PMID:17013611|PMID:17043057|PMID:17167516|PMID:17218260|PMID:17218261|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17427195|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17636424|PMID:17847000|PMID:17873119|PMID:17873882|PMID:17898811|PMID:17928923|PMID:17941496|PMID:17942903|PMID:17954274|PMID:18080326|PMID:18456716|PMID:18510548|PMID:18558293|PMID:18716620|PMID:18725974|PMID:18757403|PMID:18759867|PMID:18767981|PMID:18794879|PMID:19265751|PMID:19329485|PMID:19340001|PMID:19351834|PMID:19366826|PMID:1945792|PMID:19457929|PMID:19458356|PMID:19622968|PMID:19719509|PMID:19763152|PMID:19829307|PMID:19903786|PMID:19956187|PMID:19968660|PMID:20018398|PMID:20085938|PMID:20186503|PMID:20223021|PMID:20300775|PMID:20301661|PMID:20307669|PMID:20395440|PMID:20453058|PMID:20533527|PMID:20538496|PMID:20600018|PMID:20619739|PMID:20685300|PMID:20712882|PMID:20718038|PMID:20848651|PMID:20862607|PMID:20881644|PMID:20926450|PMID:20962022|PMID:21103832|PMID:21138868|PMID:21194675|PMID:21291452|PMID:21343951|PMID:21417916|PMID:21532617|PMID:21536651|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:21869887|PMID:21926107|PMID:21956414|PMID:22005521|PMID:22076652|PMID:22162582|PMID:22162589|PMID:22252256|PMID:22261759|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22375056|PMID:22381246|PMID:22382802|PMID:22406018|PMID:22469695|PMID:22479427|PMID:22491738|PMID:22503188|PMID:22505997|PMID:22520842|PMID:22558107|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22713753|PMID:22962422|PMID:22993021|PMID:23066114|PMID:23085752|PMID:23117110|PMID:23132533|PMID:23160955|PMID:23161105|PMID:23315997|PMID:23331837|PMID:23335809|PMID:23349303|PMID:23361946|PMID:2338203|PMID:23382303|PMID:23399955|PMID:23423780|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23613428|PMID:23633456|PMID:23695273|PMID:23757202|PMID:23764071|PMID:23825907|PMID:23886400|PMID:23888040|PMID:23934111|PMID:23934601|PMID:24004025|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24123798|PMID:24136893|PMID:24292679|PMID:24345843|PMID:24375884|PMID:24379037|PMID:24468202|PMID:24483290|PMID:24498881|PMID:24500884|PMID:24641667|PMID:24647592|PMID:24656772|PMID:24721394|PMID:24728327|PMID:24744697|PMID:24763289|PMID:24766807|PMID:24778394|PMID:24830819|PMID:24905788|PMID:25022750|PMID:25132236|PMID:25157968|PMID:25186627|PMID:25246819|PMID:25288137|PMID:25326635|PMID:25336918|PMID:25363760|PMID:25418537|PMID:25429968|PMID:25448481|PMID:25448482|PMID:25525159|PMID:25527629|PMID:25549896|PMID:25616216|PMID:25640679|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25873899|PMID:25875300|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26082588|PMID:26099045|PMID:26124082|PMID:26157835|PMID:26185318|PMID:26229595|PMID:26246517|PMID:26279303|PMID:26302980|PMID:26376867|PMID:26418532|PMID:26443266|PMID:26450531|PMID:26467025|PMID:26468640|PMID:26504226|PMID:26517354|PMID:26534844 8706988 Pten phosphatase and tensin homolog gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:69119 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hamartomatous polyposis | ClinVar Annotator: match by term: Multiple hamartoma syndrome | ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:26579216|PMID:26580448|PMID:26619011|PMID:26637798|PMID:26681312|PMID:26757417|PMID:26773036|PMID:26787237|PMID:26795104|PMID:26798346|PMID:26800850|PMID:26845104|PMID:26848951|PMID:26898890|PMID:26919320|PMID:27087592|PMID:27157322|PMID:27426521|PMID:27428751|PMID:27477328|PMID:27481051|PMID:27489861|PMID:27506944|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27720647|PMID:27819275|PMID:27824329|PMID:27878467|PMID:27884173|PMID:27959697|PMID:27978560|PMID:28008555|PMID:28086757|PMID:28135145|PMID:28188106|PMID:28191890|PMID:28195393|PMID:28235761|PMID:28250423|PMID:28263302|PMID:28286253|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28513612|PMID:28523199|PMID:28526761|PMID:28600779|PMID:28655553|PMID:28677221|PMID:28724667|PMID:28755079|PMID:28774669|PMID:28873162|PMID:29048666|PMID:29095814|PMID:29117568|PMID:29273943|PMID:29282348|PMID:29296277|PMID:29359340|PMID:29359449|PMID:29371908|PMID:29373119|PMID:29510612|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29752200|PMID:29785012|PMID:29806868|PMID:29874181|PMID:29970488|PMID:30181857|PMID:30212499|PMID:30287823|PMID:30311369|PMID:30311380|PMID:30311381|PMID:30327747|PMID:30528446|PMID:30614812|PMID:30793491|PMID:30993208|PMID:31006514|PMID:31144778|PMID:31159747|PMID:31199785|PMID:31209962|PMID:31336731|PMID:31594918|PMID:31674007|PMID:32037394|PMID:32162695|PMID:32185379|PMID:32190315|PMID:32234455|PMID:32238909|PMID:32295079|PMID:32350270|PMID:32442409|PMID:32461654|PMID:32566746|PMID:33077954|PMID:33372952|PMID:33471991|PMID:33600059|PMID:33624935|PMID:33876391|PMID:7728760|PMID:8071972|PMID:8673088|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9286463|PMID:9288766|PMID:9326929|PMID:9371490|PMID:9399897|PMID:9425889|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9600246|PMID:9619835|PMID:9685848|PMID:9735393|PMID:9740666|PMID:9788441|PMID:9794233|PMID:9797362|PMID:9832031|PMID:9832032|PMID:9856571|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:69119 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hamartomatous polyposis | ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:10051160|PMID:10051603|PMID:10076877|PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400703|PMID:10400993|PMID:10468583|PMID:10555148|PMID:10564676|PMID:10606430|PMID:10657643|PMID:10698513|PMID:10698713|PMID:10749983|PMID:10772390|PMID:10772829|PMID:10777358|PMID:10807691|PMID:10848731|PMID:10866302|PMID:10866658|PMID:10920277|PMID:10923032|PMID:10959096|PMID:1097835|PMID:10978354|PMID:11035045|PMID:11051241|PMID:11052475|PMID:11071384|PMID:11156408|PMID:11234884|PMID:11238682|PMID:11332402|PMID:11395408|PMID:11448956|PMID:1147684|PMID:11476841|PMID:11494117|PMID:11668501|PMID:11685670|PMID:11748304|PMID:11875759|PMID:11886535|PMID:11918710|PMID:11948419|PMID:12075083|PMID:12085208|PMID:12208743|PMID:12297295|PMID:12372056|PMID:12471211|PMID:12614768|PMID:12786840|PMID:12788938|PMID:12808147|PMID:12844284|PMID:12938083|PMID:1336932|PMID:14518070|PMID:14566704|PMID:14569134|PMID:14623110|PMID:14675182|PMID:14711368|PMID:15069681|PMID:15120218|PMID:15211648|PMID:15372512|PMID:15492994|PMID:15531530|PMID:15659546|PMID:15769473|PMID:15805158|PMID:15896465|PMID:15951562|PMID:15987703|PMID:16007494|PMID:16014636|PMID:16021145|PMID:16199547|PMID:16287957|PMID:16424003|PMID:16506206|PMID:16619501|PMID:16685657|PMID:16704655|PMID:16752378|PMID:16773562|PMID:16829519|PMID:16894538|PMID:16952599|PMID:17013611|PMID:17043057|PMID:17167516|PMID:17213812|PMID:17218260|PMID:17218261|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17427195|PMID:17444818|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17636424|PMID:17847000|PMID:17873119|PMID:17873882|PMID:17898811|PMID:17928923|PMID:17941496|PMID:17942903|PMID:17954274|PMID:18025323|PMID:18080326|PMID:18456716|PMID:18498243|PMID:18510548|PMID:18558293|PMID:18594467|PMID:18626099|PMID:18669439|PMID:18716620|PMID:18757403|PMID:18759867|PMID:18794879|PMID:18986487|PMID:19000654|PMID:19190598|PMID:19265751|PMID:19329485|PMID:19340001|PMID:1945792|PMID:19457929|PMID:19458356|PMID:19622968|PMID:19719509|PMID:19763152|PMID:19829307|PMID:19956187|PMID:19968660|PMID:20100827|PMID:20186503|PMID:20194734|PMID:20223021|PMID:20300775|PMID:20301661|PMID:20307669|PMID:20533527|PMID:20538496|PMID:20600018|PMID:20685300|PMID:20712882|PMID:20718038|PMID:20785012|PMID:20848651|PMID:20862607|PMID:20926450|PMID:20962022|PMID:21103832|PMID:21138868|PMID:21190448|PMID:21194675|PMID:21291452|PMID:21333374|PMID:21343951|PMID:21417916|PMID:21454687|PMID:21475810|PMID:21532617|PMID:21536651|PMID:21633361|PMID:21659347|PMID:21822720|PMID:21828076|PMID:21869887|PMID:21926107|PMID:21956414|PMID:22005521|PMID:22076652|PMID:22171747|PMID:22252256|PMID:22261759|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22371648|PMID:22375056|PMID:22381246|PMID:22382802|PMID:22406018|PMID:22413754|PMID:22469695|PMID:22491738|PMID:22503188|PMID:22505997|PMID:22520842|PMID:22536362|PMID:22558107|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22713753|PMID:22962422|PMID:22970944|PMID:22993021|PMID:23066114|PMID:23085752|PMID:23117110|PMID:23124040|PMID:23132533|PMID:23160955|PMID:23161105|PMID:23315997|PMID:23319441|PMID:23331837|PMID:2333580|PMID:23335809|PMID:23349303|PMID:23361946|PMID:2338203|PMID:23382303|PMID:23399955|PMID:23419777|PMID:23423780|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23613428|PMID:23633456|PMID:23695273|PMID:23757202|PMID:23764071|PMID:23825907|PMID:23886400|PMID:23888040|PMID:23930209|PMID:23934111|PMID:23934601|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24088041|PMID:24123798|PMID:24136893|PMID:24292679|PMID:24345843|PMID:24375884|PMID:24379037|PMID:24404930|PMID:24468202|PMID:24483290|PMID:24498881|PMID:24500884|PMID:24561254|PMID:24641667|PMID:24647592|PMID:24656772|PMID:24656806|PMID:24721394|PMID:24728327|PMID:24744697|PMID:24763289|PMID:24766807|PMID:24778394|PMID:24809327|PMID:24830819|PMID:24901346|PMID:24905788|PMID:25132236|PMID:25148578|PMID:25157968|PMID:25186627|PMID:25246819|PMID:25263454|PMID:25288137|PMID:25326635|PMID:25326637|PMID:25336918|PMID:25363760 8706988 Pten phosphatase and tensin homolog gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:69119 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hamartomatous polyposis | ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:25418537|PMID:25429968|PMID:25437057|PMID:25448478|PMID:25448481|PMID:25448482|PMID:25495427|PMID:25504433|PMID:25525159|PMID:25527629|PMID:25549896|PMID:25616216|PMID:25640679|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25873899|PMID:25875300|PMID:25910213|PMID:25937288|PMID:25944380|PMID:25980754|PMID:26076150|PMID:26082588|PMID:26099045|PMID:26124082|PMID:26157835|PMID:26166433|PMID:26185318|PMID:26216063|PMID:26229595|PMID:26246517|PMID:26279303|PMID:26302980|PMID:26350204|PMID:26376867|PMID:26415504|PMID:26418532|PMID:26450531|PMID:26467025|PMID:26468640|PMID:26504226|PMID:26517354|PMID:26534844|PMID:26572169|PMID:26579216|PMID:26580448|PMID:26612463|PMID:26633542|PMID:26633545|PMID:26637798|PMID:26681312|PMID:26757417|PMID:26773036|PMID:26787237|PMID:26795104|PMID:26798346|PMID:26800850|PMID:26845104|PMID:26848951|PMID:26898890|PMID:26919320|PMID:26932208|PMID:26960334|PMID:27087592|PMID:27147599|PMID:27157322|PMID:27168869|PMID:27221918|PMID:27405757|PMID:27426521|PMID:27428751|PMID:27477328|PMID:27481051|PMID:27489861|PMID:27506944|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27568332|PMID:27720647|PMID:27819275|PMID:27824329|PMID:27829222|PMID:27860216|PMID:27876779|PMID:27878467|PMID:27884173|PMID:27978560|PMID:27993330|PMID:28008555|PMID:28013114|PMID:28086757|PMID:28135145|PMID:28152038|PMID:28188106|PMID:28191890|PMID:28195393|PMID:28235761|PMID:28250423|PMID:28263967|PMID:28286253|PMID:28289760|PMID:28340209|PMID:28418444|PMID:28454995|PMID:28475857|PMID:28492532|PMID:28497778|PMID:28513612|PMID:28523199|PMID:28526761|PMID:28600779|PMID:28655553|PMID:28677221|PMID:28724667|PMID:28741261|PMID:28755079|PMID:28758351|PMID:28774669|PMID:28821194|PMID:28873162|PMID:29043291|PMID:29048666|PMID:29095814|PMID:29117568|PMID:29152901|PMID:29263802|PMID:29273943|PMID:29282348|PMID:29296277|PMID:29359340|PMID:29359449|PMID:29371908|PMID:29373119|PMID:29444762|PMID:29496690|PMID:29510612|PMID:29594054|PMID:29608813|PMID:29625052|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29720545|PMID:29752200|PMID:29758562|PMID:29785012|PMID:29805648|PMID:29806868|PMID:29874181|PMID:29927861|PMID:29931205|PMID:29945567|PMID:29970488|PMID:29987362|PMID:30181857|PMID:30212483|PMID:30212499|PMID:30287823|PMID:30311369|PMID:30311380|PMID:30327747|PMID:30374176|PMID:30443844|PMID:30482242|PMID:30528446|PMID:30544257|PMID:30614812|PMID:30659124|PMID:30680046|PMID:30793491|PMID:30809968|PMID:30886105|PMID:30952542|PMID:30978501|PMID:30993208|PMID:31006514|PMID:31079897|PMID:31130284|PMID:31144778|PMID:31149344|PMID:31159747|PMID:31185301|PMID:31199785|PMID:31209962|PMID:31220904|PMID:31232187|PMID:31332282|PMID:31336731|PMID:31427284|PMID:31567591|PMID:31594918|PMID:31609537|PMID:31636093|PMID:31653154|PMID:31664961|PMID:31674007|PMID:31712222|PMID:31970404|PMID:32003824|PMID:32037394|PMID:32123317|PMID:32150788|PMID:32162695|PMID:32162846|PMID:32185379|PMID:32190315|PMID:32196895|PMID:32234455|PMID:32238909|PMID:32295079|PMID:32350270|PMID:32366478|PMID:32373528|PMID:32378608|PMID:32442409|PMID:32461083|PMID:32461654|PMID:32506314|PMID:32566746|PMID:32664367|PMID:32670512|PMID:32832836|PMID:32854451|PMID:32885271|PMID:32923864|PMID:32959437|PMID:32980694|PMID:33077954|PMID:33083010|PMID:33088792|PMID:33208383|PMID:33372952|PMID:33471991|PMID:33600059|PMID:33624935|PMID:33723755|PMID:33747896|PMID:33767182|PMID:33801456|PMID:33876391|PMID:33887726|PMID:34184188|PMID:34268892|PMID:34299313|PMID:34308366|PMID:34326862|PMID:34386506|PMID:34492006|PMID:34518631|PMID:34625746|PMID:34649609|PMID:34793697|PMID:34906515|PMID:34943931|PMID:34958143|PMID:34974531|PMID:35089076|PMID:35101336|PMID:35102303|PMID:35172517|PMID:35227301|PMID:35241692|PMID:35264596|PMID:35278038|PMID:35338148|PMID:35399540|PMID:35534676|PMID:35603900|PMID:35723418|PMID:35888045|PMID:35931053|PMID:35971940|PMID:35982159|PMID:36175890|PMID:36270489|PMID:36451132|PMID:36453251|PMID:36681873|PMID:36833222|PMID:36959127 8706988 Pten phosphatase and tensin homolog gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:69119 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hamartomatous polyposis | ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:36974006|PMID:36988593|PMID:37035742|PMID:37090027|PMID:37307869|PMID:37336910|PMID:37373496|PMID:37673932|PMID:37692099|PMID:37819013|PMID:38028594|PMID:38311546|PMID:38335860|PMID:38546160|PMID:38645101|PMID:39825153|PMID:7728760|PMID:792966|PMID:8071972|PMID:8673088|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9265751|PMID:9286463|PMID:9288766|PMID:9326929|PMID:9356475|PMID:9371490|PMID:9399897|PMID:9425889|PMID:9467011|PMID:9536098|PMID:9600246|PMID:9616126|PMID:9619835|PMID:9685848|PMID:9735393|PMID:9740666|PMID:9785012|PMID:9788441|PMID:9794233|PMID:9797362|PMID:9811831|PMID:9823298|PMID:9832031|PMID:9832032|PMID:9856571|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:0080191 PTEN hamartoma tumor syndrome susceptibility ISO RGD:69119 D RGD:9068941 20200609 RGD DNA:missense mutation, nonsense mutations:cds:p.G129E, p.E157X, p.R233X (human) PMID:9140396|REF_RGD_ID:12802361 8706988 Pten phosphatase and tensin homolog gene DOID:0080202 adenoid cystic carcinoma ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 8706988 Pten phosphatase and tensin homolog gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26023714 8706988 Pten phosphatase and tensin homolog gene DOID:0080365 endometrial hyperplasia ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16402032 8706988 Pten phosphatase and tensin homolog gene DOID:0081000 Cowden syndrome 4 ISO RGD:69119 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cowden syndrome 4 | ClinVar Annotator: match by term: KLLN-related condition PMID:12844284|PMID:16773562|PMID:17427195|PMID:21417916|PMID:2338203|PMID:24033266|PMID:25741868|PMID:27535533|PMID:27878467|PMID:27884173|PMID:28492532 8706988 Pten phosphatase and tensin homolog gene DOID:0081251 papillary tumor of the pineal region ISO RGD:69119 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Papillary tumor of the pineal region PMID:10866302|PMID:11051241|PMID:12614768|PMID:17942903|PMID:21194675|PMID:21828076|PMID:23335809|PMID:23399955|PMID:25741868|PMID:26467025|PMID:27531073|PMID:27535533|PMID:27829222|PMID:28492532|PMID:29706350|PMID:29706646|PMID:30181857|PMID:32664367|PMID:33083010|PMID:33088792|PMID:36988593 8706988 Pten phosphatase and tensin homolog gene DOID:0110334 osteogenesis imperfecta type 1 ISO RGD:69119 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta PMID:10866302|PMID:17526800|PMID:17526801|PMID:21194675|PMID:22628360|PMID:24778394|PMID:25157968|PMID:25669429|PMID:25741868|PMID:25944380|PMID:26467025|PMID:28475857|PMID:28492532|PMID:28526761|PMID:29874181|PMID:35931053 8706988 Pten phosphatase and tensin homolog gene DOID:0111766 X-linked VACTERL association ISO RGD:69119 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: VACTERL-H | ClinVar Annotator: match by term: Vater association with macrocephaly and ventriculomegaly PMID:10866302|PMID:11071384|PMID:11748304|PMID:15492994|PMID:17526800|PMID:17526801|PMID:17873119|PMID:17942903|PMID:21194675|PMID:21828076|PMID:22628360|PMID:24033266|PMID:24055113|PMID:24468202|PMID:24778394|PMID:25157968|PMID:25669429|PMID:25741868|PMID:25944380|PMID:25980754|PMID:26467025|PMID:26681312|PMID:27535533|PMID:28475857|PMID:28492532|PMID:28526761|PMID:29706350|PMID:29785012|PMID:29874181|PMID:30311380|PMID:32350270|PMID:32885271|PMID:33077954|PMID:34793697|PMID:35931053|PMID:38645101|PMID:9259288 8706988 Pten phosphatase and tensin homolog gene DOID:10041 dysplastic nevus syndrome ISO RGD:69119 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: B-K MOLE SYNDROME PMID:24033266|PMID:24055113|PMID:25741868|PMID:25980754|PMID:28492532|PMID:29706350|PMID:29785012|PMID:30311380|PMID:32350270|PMID:32885271|PMID:34793697|PMID:35931053|PMID:38645101 8706988 Pten phosphatase and tensin homolog gene DOID:10283 prostate cancer ISO RGD:69119 D RGD:7240710 20250305 OMIM 8706988 Pten phosphatase and tensin homolog gene DOID:10283 prostate cancer ISO RGD:69119 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate | ClinVar Annotator: match by term: Prostate cancer PMID:10232405|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10749983|PMID:10848731|PMID:10866302|PMID:11684570|PMID:11685670|PMID:14518070|PMID:17392703|PMID:17526800|PMID:17526801|PMID:20301661|PMID:21956414|PMID:22381246|PMID:22595938|PMID:22628360|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23695273|PMID:24033266|PMID:24052722|PMID:24778394|PMID:25157968|PMID:25288137|PMID:25326635|PMID:25549896|PMID:25669429|PMID:25677497|PMID:25741868|PMID:25756585|PMID:27477328|PMID:27959697|PMID:28475857|PMID:28492532|PMID:28526761|PMID:29874181|PMID:30287823|PMID:30614812|PMID:32238909|PMID:33077954|PMID:33600059|PMID:9399897|PMID:9467011 8706988 Pten phosphatase and tensin homolog gene DOID:10283 prostate cancer ISO RGD:69119 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate | ClinVar Annotator: match by term: Prostate cancer PMID:10232405|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10555148|PMID:10749983|PMID:10848731|PMID:10866302|PMID:10923032|PMID:11071384|PMID:11332402|PMID:11685670|PMID:11918710|PMID:12372056|PMID:14518070|PMID:15492994|PMID:16773562|PMID:17286265|PMID:17392703|PMID:17526800|PMID:17526801|PMID:17873119|PMID:18558293|PMID:20301661|PMID:21194675|PMID:21343951|PMID:21659347|PMID:21869887|PMID:21956414|PMID:22266152|PMID:22381246|PMID:22595938|PMID:22628360|PMID:22703879|PMID:23161105|PMID:23335809|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23695273|PMID:23764071|PMID:23934601|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24136893|PMID:24345843|PMID:24468202|PMID:24728327|PMID:24763289|PMID:24778394|PMID:25132236|PMID:25157968|PMID:25186627|PMID:25326635|PMID:25549896|PMID:25669429|PMID:25741868|PMID:25756585|PMID:25944380|PMID:25980754|PMID:26124082|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26800850|PMID:26898890|PMID:27428751|PMID:27477328|PMID:27535533|PMID:28008555|PMID:28135145|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28526761|PMID:28655553|PMID:29371908|PMID:29594054|PMID:29706350|PMID:29785012|PMID:29874181|PMID:30287823|PMID:30311380|PMID:30614812|PMID:30659124|PMID:31006514|PMID:31144778|PMID:31159747|PMID:31209962|PMID:31567591|PMID:32238909|PMID:32350270|PMID:32366478|PMID:32885271|PMID:33077954|PMID:33083010|PMID:33372952|PMID:33471991|PMID:33600059|PMID:33887726|PMID:34268892|PMID:34793697|PMID:35264596|PMID:35931053|PMID:36988593|PMID:38311546|PMID:38645101|PMID:9259288|PMID:9399897|PMID:9467011|PMID:9856571 8706988 Pten phosphatase and tensin homolog gene DOID:10283 prostate cancer disease_progression ISO RGD:69119 D RGD:9068941 20200609 RGD DNA:deletion PMID:17700571|REF_RGD_ID:2292502 8706988 Pten phosphatase and tensin homolog gene DOID:10283 prostate cancer disease_progression ISO RGD:69119 D RGD:9068941 20200609 RGD mRNA:decreased expression:tumor:lower in high versus low Gleason score tumors (p<0.05 compared to at least one housekeeping gene) PMID:18336616|REF_RGD_ID:2301729 8706988 Pten phosphatase and tensin homolog gene DOID:10325 silicosis ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27621875 8706988 Pten phosphatase and tensin homolog gene DOID:10534 stomach cancer ISO RGD:69119 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer PMID:10076877|PMID:10400993|PMID:10555148|PMID:10848731|PMID:10866302|PMID:10920277|PMID:10923032|PMID:11051241|PMID:11332402|PMID:11918710|PMID:12614768|PMID:12844284|PMID:12938083|PMID:1336932|PMID:14566704|PMID:15211648|PMID:16199547|PMID:16773562|PMID:16952599|PMID:17286265|PMID:17324556|PMID:17526800|PMID:17526801|PMID:17873882|PMID:17942903|PMID:18558293|PMID:19340001|PMID:19458356|PMID:19829307|PMID:20194734|PMID:20301661|PMID:20685300|PMID:21194675|PMID:21828076|PMID:21956414|PMID:22261759|PMID:22266152|PMID:22381246|PMID:22491738|PMID:22962422|PMID:23335809|PMID:23349303|PMID:23399955|PMID:23470840|PMID:23475934|PMID:23764071|PMID:23934111|PMID:23934601|PMID:24033266|PMID:24123798|PMID:24345843|PMID:24375884|PMID:24778394|PMID:25288137|PMID:25363760|PMID:25647146|PMID:25669429|PMID:25741868|PMID:26467025|PMID:26681312|PMID:26773036|PMID:27426521|PMID:27477328|PMID:27531073|PMID:27535533|PMID:27824329|PMID:27829222|PMID:28191890|PMID:28286253|PMID:28492532|PMID:28526761|PMID:28655553|PMID:28677221|PMID:29594054|PMID:29706350|PMID:29706646|PMID:29785012|PMID:30181857|PMID:30528446|PMID:30614812|PMID:30659124|PMID:31332282|PMID:31336731|PMID:32295079|PMID:32350270|PMID:32664367|PMID:32959437|PMID:33083010|PMID:33088792|PMID:33372952|PMID:35227301|PMID:36988593|PMID:9140396|PMID:9241266|PMID:9259288|PMID:9399897|PMID:9467011|PMID:9832031|PMID:9856571 8706988 Pten phosphatase and tensin homolog gene DOID:10584 retinitis pigmentosa onset ISO RGD:61995 D RGD:9068941 20200609 RGD mRNA:increased expression:retina (rat) PMID:22432009|REF_RGD_ID:12802340 8706988 Pten phosphatase and tensin homolog gene DOID:1059 intellectual disability ISO RGD:69119 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:10555148|PMID:11332402|PMID:12372056|PMID:17526800|PMID:17576681|PMID:18080326|PMID:21194675|PMID:21291452|PMID:21659347|PMID:21956414|PMID:22703879|PMID:23442912|PMID:23555315|PMID:24763289|PMID:25669429|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26800850|PMID:27428751|PMID:27477328|PMID:28492532|PMID:29371908|PMID:29720545|PMID:31144778|PMID:31159747|PMID:31209962|PMID:33471991|PMID:34268892|PMID:9536098 8706988 Pten phosphatase and tensin homolog gene DOID:10762 portal hypertension ISO RGD:61995 D RGD:9068941 20200609 RGD PMID:14525948|REF_RGD_ID:1581280 8706988 Pten phosphatase and tensin homolog gene DOID:10763 hypertension ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15646324 8706988 Pten phosphatase and tensin homolog gene DOID:10907 microcephaly ISO RGD:69119 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:16704655|PMID:19457929|PMID:20926450|PMID:21956414|PMID:24778394|PMID:25669429|PMID:25741868|PMID:26246517|PMID:27514801|PMID:28492532|PMID:28523199|PMID:29296277|PMID:29706350|PMID:29785012|PMID:32003824|PMID:37673932|PMID:9288766|PMID:9600246 8706988 Pten phosphatase and tensin homolog gene DOID:11054 urinary bladder cancer ISO RGD:69119 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder PMID:10051603|PMID:10698713|PMID:10848731|PMID:10866302|PMID:12075083|PMID:12208743|PMID:12938083|PMID:16773562|PMID:17928923|PMID:20600018|PMID:20712882|PMID:21194675|PMID:21659347|PMID:21828076|PMID:22469695|PMID:22962422|PMID:23335809|PMID:23399955|PMID:23886400|PMID:24766807|PMID:24778394|PMID:25527629|PMID:25669429|PMID:25741868|PMID:27535533|PMID:28492532|PMID:28497778|PMID:28526761|PMID:29706350|PMID:29785012|PMID:31079897|PMID:32442409|PMID:35227301|PMID:9140396|PMID:9256433|PMID:9735393|PMID:9811831 8706988 Pten phosphatase and tensin homolog gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:69119 D RGD:9068941 20200609 RGD protein:decreased expression:urinary bladder PMID:18190825|REF_RGD_ID:2291891 8706988 Pten phosphatase and tensin homolog gene DOID:11132 prostatic hypertrophy ISO RGD:62287 D RGD:9068941 20200609 RGD PMID:11175795|REF_RGD_ID:1302553 8706988 Pten phosphatase and tensin homolog gene DOID:11166 papillomavirus infectious disease ISO RGD:69119 D RGD:9068941 20210625 RGD associated with head and neck squamous cell carcinoma;protein:increased expression:oropharynx (human) PMID:28945300|REF_RGD_ID:127285601 8706988 Pten phosphatase and tensin homolog gene DOID:11166 papillomavirus infectious disease ISO RGD:69119 D RGD:9068941 20210625 RGD associated with tonsil cancer;protein:increased expression:tonsil (human) PMID:24616007|REF_RGD_ID:127285613 8706988 Pten phosphatase and tensin homolog gene DOID:1148 polydactyly ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17427195 8706988 Pten phosphatase and tensin homolog gene DOID:1192 peripheral nervous system neoplasm ISO RGD:69119 D RGD:9068941 20200609 RGD associated with Neurofibromatosis 1;DNA:loss of heterozygosity:cds: (human) PMID:19246520|REF_RGD_ID:12802354 8706988 Pten phosphatase and tensin homolog gene DOID:12273 anisometropia ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9286463 8706988 Pten phosphatase and tensin homolog gene DOID:12347 osteogenesis imperfecta ISO RGD:69119 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Lobstein disease PMID:10866302|PMID:17526800|PMID:17526801|PMID:21194675|PMID:22628360|PMID:24778394|PMID:25157968|PMID:25669429|PMID:25741868|PMID:25944380|PMID:26467025|PMID:28475857|PMID:28492532|PMID:28526761|PMID:29874181|PMID:35931053 8706988 Pten phosphatase and tensin homolog gene DOID:1240 leukemia ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12970779 8706988 Pten phosphatase and tensin homolog gene DOID:127 leiomyoma ISO RGD:69119 D RGD:9068941 20200609 RGD protein:decreased expression:myometrium PMID:18000229|REF_RGD_ID:2292498 8706988 Pten phosphatase and tensin homolog gene DOID:127 leiomyoma ISO RGD:69119 D RGD:9068941 20200609 RGD protein:increased phosphorylation:myometrium PMID:17097286|REF_RGD_ID:2292508 8706988 Pten phosphatase and tensin homolog gene DOID:12849 autistic disorder ISO RGD:69119 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autistic behavior | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:16506206|PMID:16704655|PMID:19457929|PMID:21956414|PMID:24778394|PMID:25669429|PMID:25741868|PMID:26246517|PMID:26534844|PMID:27514801|PMID:28492532|PMID:28523199|PMID:29296277|PMID:9288766 8706988 Pten phosphatase and tensin homolog gene DOID:12849 autistic disorder ISO RGD:69119 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Autism PMID:16506206|PMID:16704655|PMID:17873882|PMID:19340001|PMID:19457929|PMID:19458356|PMID:20926450|PMID:21828076|PMID:21956414|PMID:22266152|PMID:22491738|PMID:22595938|PMID:24778394|PMID:25669429|PMID:25741868|PMID:26246517|PMID:26504226|PMID:26534844|PMID:26773036|PMID:27514801|PMID:28195393|PMID:28492532|PMID:28523199|PMID:29296277|PMID:29706350|PMID:29785012|PMID:30311380|PMID:32003824|PMID:34793697|PMID:35982159|PMID:36270489|PMID:37673932|PMID:38645101|PMID:9288766|PMID:9600246 8706988 Pten phosphatase and tensin homolog gene DOID:12849 autistic disorder ISO RGD:69119 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior | ClinVar Annotator: match by term: Autistic disorder PMID:16506206|PMID:16704655|PMID:17873882|PMID:19340001|PMID:19457929|PMID:19458356|PMID:20926450|PMID:21828076|PMID:21956414|PMID:22266152|PMID:22491738|PMID:22595938|PMID:24778394|PMID:25669429|PMID:25741868|PMID:26246517|PMID:26504226|PMID:26534844|PMID:26773036|PMID:27514801|PMID:28195393|PMID:28492532|PMID:28523199|PMID:29296277|PMID:29706350|PMID:29785012|PMID:30311380|PMID:32003824|PMID:34793697|PMID:35982159|PMID:36270489|PMID:37673932|PMID:38335860|PMID:38645101|PMID:9288766|PMID:9600246 8706988 Pten phosphatase and tensin homolog gene DOID:13042 persistent fetal circulation syndrome ISO RGD:62287 D RGD:9068941 20220825 MouseDO OMIM:265380 8706988 Pten phosphatase and tensin homolog gene DOID:13482 Proteus syndrome ISO RGD:69119 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Proteus-like syndrome PMID:10232405|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10749983|PMID:10848731|PMID:11685670|PMID:11918710|PMID:12471211|PMID:14518070|PMID:17392703|PMID:18558293|PMID:20301661|PMID:21956414|PMID:22381246|PMID:22595938|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23695273|PMID:23934601|PMID:24052722|PMID:24778394|PMID:25326635|PMID:25549896|PMID:25669429|PMID:25741868|PMID:25756585|PMID:27477328|PMID:27535533|PMID:28492532|PMID:28526761|PMID:30287823|PMID:30614812|PMID:32238909|PMID:33077954|PMID:33600059|PMID:9399897|PMID:9467011 8706988 Pten phosphatase and tensin homolog gene DOID:13608 biliary atresia ISO RGD:69119 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (human) PMID:25487473|REF_RGD_ID:12832754 8706988 Pten phosphatase and tensin homolog gene DOID:1380 endometrial cancer ISO RGD:62287 D RGD:9068941 20220825 MouseDO OMIM:608089 8706988 Pten phosphatase and tensin homolog gene DOID:14291 Noonan syndrome with multiple lentigines ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11685670 8706988 Pten phosphatase and tensin homolog gene DOID:1470 major depressive disorder ISO RGD:69119 D RGD:9068941 20210625 RGD protein:increased expression:occipital cortex (human) PMID:12969265|REF_RGD_ID:127285604 8706988 Pten phosphatase and tensin homolog gene DOID:1520 colon carcinoma ISO RGD:69119 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma PMID:10555148|PMID:12372056|PMID:21194675|PMID:21659347|PMID:21956414|PMID:22703879|PMID:23442912|PMID:23555315|PMID:24763289|PMID:25669429|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26800850|PMID:27428751|PMID:27477328|PMID:28492532|PMID:29371908|PMID:31144778|PMID:31159747|PMID:31209962|PMID:33471991|PMID:34268892 8706988 Pten phosphatase and tensin homolog gene DOID:1612 breast cancer ISO RGD:69119 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:11918710|PMID:14569134|PMID:14623110|PMID:16199547|PMID:16773562|PMID:17526801|PMID:20712882|PMID:21194675|PMID:21343951|PMID:21659347|PMID:21869887|PMID:22558107|PMID:23315997|PMID:23399955|PMID:24033266|PMID:24136893|PMID:25132236|PMID:25527629|PMID:25669429|PMID:25741868|PMID:25980754|PMID:26124082|PMID:26467025|PMID:26580448|PMID:26898890|PMID:27405757|PMID:27535533|PMID:28008555|PMID:28418444|PMID:28492532|PMID:29043291|PMID:29706350|PMID:29785012|PMID:9467011|PMID:9619835|PMID:9788441 8706988 Pten phosphatase and tensin homolog gene DOID:1612 breast cancer ISO RGD:69119 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:11918710|PMID:14569134|PMID:14623110|PMID:16199547|PMID:16773562|PMID:17526801|PMID:20712882|PMID:21194675|PMID:21343951|PMID:21659347|PMID:21869887|PMID:22558107|PMID:23315997|PMID:23399955|PMID:24136893|PMID:25132236|PMID:25527629|PMID:25669429|PMID:25741868|PMID:25980754|PMID:26124082|PMID:26467025|PMID:26580448|PMID:26898890|PMID:27405757|PMID:27535533|PMID:28008555|PMID:28418444|PMID:28492532|PMID:29043291|PMID:29706350|PMID:29785012|PMID:31006514|PMID:31567591|PMID:32350270|PMID:32366478|PMID:35931053|PMID:9467011|PMID:9619835|PMID:9788441 8706988 Pten phosphatase and tensin homolog gene DOID:1612 breast cancer ISO RGD:69119 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:11918710|PMID:14569134|PMID:14623110|PMID:16199547|PMID:16773562|PMID:17526801|PMID:20712882|PMID:21194675|PMID:21343951|PMID:21659347|PMID:21869887|PMID:22558107|PMID:23315997|PMID:23399955|PMID:24136893|PMID:25132236|PMID:25527629|PMID:25669429|PMID:25741868|PMID:25980754|PMID:26124082|PMID:26467025|PMID:26580448|PMID:26898890|PMID:27405757|PMID:27535533|PMID:28008555|PMID:28418444|PMID:28492532|PMID:29043291|PMID:29706350|PMID:29785012|PMID:30311380|PMID:31006514|PMID:31567591|PMID:32350270|PMID:32366478|PMID:34793697|PMID:35931053|PMID:38645101|PMID:9467011|PMID:9619835|PMID:9788441 8706988 Pten phosphatase and tensin homolog gene DOID:1612 breast cancer disease_progression ISO RGD:69119 D RGD:9068941 20200609 RGD protein:decreased expression:breast PMID:12055674|REF_RGD_ID:2292514 8706988 Pten phosphatase and tensin homolog gene DOID:1749 squamous cell carcinoma ISO RGD:69119 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 8706988 Pten phosphatase and tensin homolog gene DOID:1793 pancreatic cancer ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19917848 8706988 Pten phosphatase and tensin homolog gene DOID:1826 epilepsy ISO RGD:69119 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Seizure PMID:16704655|PMID:19457929|PMID:20926450|PMID:21956414|PMID:24778394|PMID:25669429|PMID:25741868|PMID:26246517|PMID:26467025|PMID:27514801|PMID:27535533|PMID:28492532|PMID:28523199|PMID:29296277|PMID:29706350|PMID:29785012|PMID:32003824|PMID:37673932|PMID:9288766|PMID:9600246 8706988 Pten phosphatase and tensin homolog gene DOID:1827 generalized epilepsy ISO RGD:69119 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868 8706988 Pten phosphatase and tensin homolog gene DOID:1909 melanoma ISO RGD:69119 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: MELANOMA, MALIGNANT | ClinVar Annotator: match by term: Melanoma PMID:1097835|PMID:10978354|PMID:11476841|PMID:16007494|PMID:16773562|PMID:21194675|PMID:21659347|PMID:21956414|PMID:22371648|PMID:24033266|PMID:24055113|PMID:24778394|PMID:25741868|PMID:25980754|PMID:28492532|PMID:29706350|PMID:29785012|PMID:30311380|PMID:31653154|PMID:32350270|PMID:32885271|PMID:34793697|PMID:35931053|PMID:38645101|PMID:9467011 8706988 Pten phosphatase and tensin homolog gene DOID:2018 hyperinsulinism ISO RGD:61995 D RGD:9068941 20200609 RGD protein:decreased expression:ovary PMID:18421022|REF_RGD_ID:2292519 8706988 Pten phosphatase and tensin homolog gene DOID:2043 hepatitis B exacerbates ISO RGD:62287 D RGD:9068941 20210625 RGD mRNA:decreased expression:liver (mouse) PMID:31604033|REF_RGD_ID:127285593 8706988 Pten phosphatase and tensin homolog gene DOID:219 colon cancer ISO RGD:69119 D RGD:9068941 20200609 RGD mRNA:decreased expression:colon (human) PMID:21806946|REF_RGD_ID:12859043 8706988 Pten phosphatase and tensin homolog gene DOID:2226 myeloproliferative neoplasm ISO RGD:69119 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable PMID:25741868|PMID:28492532|PMID:35101336 8706988 Pten phosphatase and tensin homolog gene DOID:224 transient cerebral ischemia ISO RGD:61995 D RGD:9068941 20200609 RGD PMID:12414116|REF_RGD_ID:1358425 8706988 Pten phosphatase and tensin homolog gene DOID:2256 osteochondrodysplasia ISO RGD:62287 D RGD:9068941 20200609 RGD PMID:18832389|REF_RGD_ID:12859038 8706988 Pten phosphatase and tensin homolog gene DOID:2394 ovarian cancer ISO RGD:69119 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Ovarian cancer PMID:24033266|PMID:24055113|PMID:25741868|PMID:25980754|PMID:28492532|PMID:29706350|PMID:29785012|PMID:30287823|PMID:30311380|PMID:32234455|PMID:32350270|PMID:32885271|PMID:32980694|PMID:33471991|PMID:34793697|PMID:35931053|PMID:38645101 8706988 Pten phosphatase and tensin homolog gene DOID:2394 ovarian cancer ameliorates ISO RGD:69119 D RGD:9068941 20210625 RGD human gene and cells in a mouse model PMID:18347155|REF_RGD_ID:127285605 8706988 Pten phosphatase and tensin homolog gene DOID:255 hemangioma ISO RGD:69119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hemangioma PMID:21194675|PMID:28492532|PMID:9467011 8706988 Pten phosphatase and tensin homolog gene DOID:264 hemangiopericytoma ISO RGD:69119 D RGD:9068941 20221110 RGD protein:decreased expression:anterior temporal lobe PMID:26951238|REF_RGD_ID:155663351 8706988 Pten phosphatase and tensin homolog gene DOID:2841 asthma ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17982072 8706988 Pten phosphatase and tensin homolog gene DOID:2843 long QT syndrome ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21097842 8706988 Pten phosphatase and tensin homolog gene DOID:2870 endometrial adenocarcinoma ameliorates ISO RGD:1319700 D RGD:9068941 20210625 RGD PMID:32843721|REF_RGD_ID:127285600 8706988 Pten phosphatase and tensin homolog gene DOID:2871 endometrial carcinoma ISO RGD:69119 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:10866302|PMID:10920277|PMID:11051241|PMID:11948419|PMID:16014636|PMID:16199547|PMID:17576681|PMID:17942903|PMID:1945792|PMID:19457929|PMID:20600018|PMID:20926450|PMID:21103832|PMID:21194675|PMID:21822720|PMID:21828076|PMID:22327138|PMID:23399955|PMID:23470840|PMID:24033266|PMID:24055113|PMID:24292679|PMID:24766807|PMID:24778394|PMID:25741868|PMID:25980754|PMID:26418532|PMID:26795104|PMID:27535533|PMID:28492532|PMID:28677221|PMID:29152901|PMID:29706350|PMID:29785012|PMID:29931205|PMID:30311380|PMID:31636093|PMID:32350270|PMID:32885271|PMID:33723755|PMID:34386506|PMID:34793697|PMID:35227301|PMID:35931053|PMID:36453251|PMID:38645101|PMID:7728760|PMID:8980400|PMID:9259288|PMID:9326929|PMID:9467011|PMID:9536098|PMID:9740666|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:2938 Epstein-Barr virus infectious disease ISO RGD:69119 D RGD:9068941 20210625 RGD associated with stomach carcinoma;DNA:hypermethylation:promoter (human) PMID:19339266|REF_RGD_ID:127285616 8706988 Pten phosphatase and tensin homolog gene DOID:299 adenocarcinoma ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17909629 8706988 Pten phosphatase and tensin homolog gene DOID:303 substance-related disorder ISO RGD:61995 D RGD:9068941 20200609 RGD PMID:16474401|REF_RGD_ID:2292548 8706988 Pten phosphatase and tensin homolog gene DOID:305 carcinoma ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9326929 8706988 Pten phosphatase and tensin homolog gene DOID:3070 high grade glioma ISO RGD:69119 D RGD:7240710 20250305 OMIM 8706988 Pten phosphatase and tensin homolog gene DOID:3070 high grade glioma ISO RGD:69119 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 2 PMID:10232405|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10555148|PMID:10749983|PMID:10777358|PMID:10848731|PMID:10866302|PMID:10920277|PMID:10923032|PMID:11051241|PMID:11156408|PMID:11234884|PMID:11274365|PMID:11332402|PMID:11494117|PMID:11504908|PMID:11685670|PMID:11918710|PMID:12085208|PMID:12471211|PMID:12614768|PMID:12844284|PMID:1336932|PMID:14518070|PMID:14675182|PMID:15016963|PMID:15120218|PMID:15211648|PMID:15254419|PMID:15647370|PMID:15805158|PMID:16199547|PMID:16752378|PMID:16773562|PMID:16952599|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17847000|PMID:17873882|PMID:17941496|PMID:17942903|PMID:18558293|PMID:18725974|PMID:18759867|PMID:18767981|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19457929|PMID:19458356|PMID:19829307|PMID:19903786|PMID:20018398|PMID:20085938|PMID:20223021|PMID:20301661|PMID:20453058|PMID:20538496|PMID:20600018|PMID:20619739|PMID:20685300|PMID:20881644|PMID:20926450|PMID:21194675|PMID:21343951|PMID:21659347|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22162582|PMID:22162589|PMID:22266152|PMID:22281088|PMID:22381246|PMID:22479427|PMID:22491738|PMID:22520842|PMID:22595938|PMID:22628360|PMID:23315997|PMID:23335809|PMID:23349303|PMID:23399955|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23695273|PMID:23764071|PMID:23886400|PMID:23934601|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24345843|PMID:24375884|PMID:24404930|PMID:24498881|PMID:24766807|PMID:24778394|PMID:24809327|PMID:25157968|PMID:25288137|PMID:25326635|PMID:25429968|PMID:25527629|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26246517|PMID:26376867|PMID:26467025|PMID:26579216|PMID:26633542|PMID:26773036|PMID:27221918|PMID:27405757|PMID:27426521|PMID:27477328|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27829222|PMID:27959697|PMID:28250423|PMID:28286253|PMID:28475857|PMID:28492532|PMID:28526761|PMID:28655553|PMID:28677221|PMID:28755079|PMID:29273943|PMID:29373119|PMID:29594054|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29785012|PMID:29874181|PMID:29931205|PMID:29970488|PMID:30181857|PMID:30287823|PMID:30311380|PMID:30374176|PMID:30528446|PMID:30614812|PMID:30659124|PMID:30993208|PMID:31006514|PMID:31336731|PMID:32150788|PMID:32234455|PMID:32238909|PMID:32350270|PMID:32664367|PMID:32832836|PMID:32885271|PMID:33077954|PMID:33083010|PMID:33088792|PMID:33372952|PMID:33600059|PMID:33723755|PMID:34386506|PMID:35227301|PMID:36988593|PMID:7728760|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9326929|PMID:9399897|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9600246|PMID:9735393|PMID:9740666|PMID:9856571 8706988 Pten phosphatase and tensin homolog gene DOID:3070 high grade glioma ISO RGD:69119 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Glioma susceptibility 2 PMID:10232405|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10555148|PMID:10749983|PMID:10777358|PMID:10848731|PMID:10866302|PMID:10920277|PMID:10923032|PMID:11051241|PMID:11156408|PMID:11234884|PMID:11274365|PMID:11332402|PMID:11494117|PMID:11504908|PMID:11685670|PMID:11918710|PMID:12085208|PMID:12471211|PMID:12614768|PMID:12844284|PMID:1336932|PMID:14518070|PMID:14675182|PMID:15016963|PMID:15120218|PMID:15211648|PMID:15254419|PMID:15647370|PMID:15805158|PMID:16199547|PMID:16752378|PMID:16773562|PMID:16952599|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17847000|PMID:17873882|PMID:17941496|PMID:17942903|PMID:18558293|PMID:18725974|PMID:18759867|PMID:18767981|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19457929|PMID:19458356|PMID:19829307|PMID:19903786|PMID:20018398|PMID:20085938|PMID:20223021|PMID:20301661|PMID:20453058|PMID:20538496|PMID:20600018|PMID:20619739|PMID:20685300|PMID:20881644|PMID:20926450|PMID:21194675|PMID:21343951|PMID:21659347|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22162582|PMID:22162589|PMID:22266152|PMID:22281088|PMID:22381246|PMID:22479427|PMID:22491738|PMID:22520842|PMID:22595938|PMID:22628360|PMID:23315997|PMID:23335809|PMID:23349303|PMID:23399955|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23695273|PMID:23764071|PMID:23886400|PMID:23934601|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24345843|PMID:24375884|PMID:24404930|PMID:24498881|PMID:24766807|PMID:24778394|PMID:24809327|PMID:25157968|PMID:25288137|PMID:25326635|PMID:25429968|PMID:25527629|PMID:25549896|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26246517|PMID:26376867|PMID:26467025|PMID:26579216|PMID:26633542|PMID:26773036|PMID:27221918|PMID:27405757|PMID:27426521|PMID:27477328|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27829222|PMID:27959697|PMID:28250423|PMID:28286253|PMID:28289760|PMID:28475857|PMID:28492532|PMID:28526761|PMID:28655553|PMID:28677221|PMID:28755079|PMID:29273943|PMID:29373119|PMID:29594054|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29785012|PMID:29874181|PMID:29931205|PMID:29970488|PMID:30181857|PMID:30287823|PMID:30311380|PMID:30374176|PMID:30528446|PMID:30614812|PMID:30659124|PMID:30993208|PMID:31006514|PMID:31336731|PMID:32150788|PMID:32234455|PMID:32238909|PMID:32350270|PMID:32664367|PMID:32832836|PMID:32885271|PMID:33077954|PMID:33083010|PMID:33088792|PMID:33372952|PMID:33471991|PMID:33600059|PMID:33723755|PMID:34386506|PMID:35089076|PMID:35227301|PMID:36988593|PMID:7728760|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9326929|PMID:9399897|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9600246|PMID:9735393|PMID:9740666|PMID:9856571 8706988 Pten phosphatase and tensin homolog gene DOID:3070 high grade glioma ISO RGD:69119 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Ependymoma | ClinVar Annotator: match by term: Glioma susceptibility 2 PMID:10232405|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10555148|PMID:10749983|PMID:10777358|PMID:10848731|PMID:10866302|PMID:10920277|PMID:10923032|PMID:11051241|PMID:11156408|PMID:11234884|PMID:11274365|PMID:11332402|PMID:11494117|PMID:11504908|PMID:11685670|PMID:11918710|PMID:12085208|PMID:12372056|PMID:12471211|PMID:12614768|PMID:12844284|PMID:1336932|PMID:14518070|PMID:14675182|PMID:15016963|PMID:15120218|PMID:15211648|PMID:15254419|PMID:15647370|PMID:15805158|PMID:16199547|PMID:16752378|PMID:16773562|PMID:16952599|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17847000|PMID:17873882|PMID:17941496|PMID:17942903|PMID:18558293|PMID:18725974|PMID:18759867|PMID:18767981|PMID:18986487|PMID:19265751|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19457929|PMID:19458356|PMID:19829307|PMID:19903786|PMID:20018398|PMID:20085938|PMID:20223021|PMID:20301661|PMID:20453058|PMID:20533527|PMID:20538496|PMID:20600018|PMID:20619739|PMID:20685300|PMID:20881644|PMID:20926450|PMID:21194675|PMID:21343951|PMID:21659347|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22162582|PMID:22162589|PMID:22266152|PMID:22281088|PMID:22381246|PMID:22479427|PMID:22491738|PMID:22520842|PMID:22595938|PMID:22628360|PMID:22703879|PMID:23161105|PMID:23315997|PMID:23335809|PMID:23349303|PMID:23399955|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23695273|PMID:23764071|PMID:23886400|PMID:23934601|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24136893|PMID:24345843|PMID:24375884|PMID:24404930|PMID:24498881|PMID:24728327|PMID:24763289|PMID:24766807|PMID:24778394|PMID:24809327|PMID:25132236|PMID:25157968|PMID:25186627|PMID:25288137|PMID:25326635|PMID:25429968|PMID:25527629|PMID:25549896|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26124082|PMID:26246517|PMID:26376867|PMID:26467025|PMID:26579216|PMID:26580448|PMID:26633542|PMID:26773036|PMID:26800850|PMID:26898890|PMID:27221918|PMID:27405757|PMID:27426521|PMID:27428751|PMID:27477328|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27829222|PMID:28008555|PMID:28135145|PMID:28250423|PMID:28286253|PMID:28289760|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28526761|PMID:28655553|PMID:28677221|PMID:28755079|PMID:29273943|PMID:29371908|PMID:29373119|PMID:29594054|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29785012|PMID:29874181|PMID:29931205|PMID:29970488|PMID:30181857|PMID:30287823|PMID:30311380|PMID:30374176|PMID:30528446|PMID:30614812|PMID:30659124|PMID:30993208|PMID:31006514|PMID:31144778|PMID:31159747|PMID:31209962|PMID:31336731|PMID:31567591|PMID:32150788|PMID:32234455|PMID:32238909|PMID:32350270|PMID:32366478|PMID:32442409|PMID:32664367|PMID:32832836|PMID:32885271|PMID:33077954|PMID:33083010|PMID:33088792|PMID:33372952|PMID:33471991|PMID:33600059|PMID:33723755|PMID:33887726|PMID:34268892|PMID:34386506|PMID:35089076|PMID:35227301|PMID:35264596|PMID:35931053|PMID:36988593|PMID:7728760|PMID:792966|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9326929|PMID:9399897|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9600246|PMID:9735393|PMID:9740666|PMID:9856571 8706988 Pten phosphatase and tensin homolog gene DOID:3070 high grade glioma ISO RGD:69119 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 2 | ClinVar Annotator: match by term: Glioma susceptibility 9 PMID:10232405|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10555148|PMID:10749983|PMID:10777358|PMID:10848731|PMID:10866302|PMID:10920277|PMID:10923032|PMID:11051241|PMID:11156408|PMID:11234884|PMID:11274365|PMID:11332402|PMID:11494117|PMID:11504908|PMID:11685670|PMID:11918710|PMID:12085208|PMID:12372056|PMID:12471211|PMID:12614768|PMID:12844284|PMID:1336932|PMID:14518070|PMID:14675182|PMID:15016963|PMID:15120218|PMID:15211648|PMID:15254419|PMID:15492994|PMID:15647370|PMID:15769473|PMID:15805158|PMID:16199547|PMID:16752378|PMID:16773562|PMID:16952599|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17847000|PMID:17873882|PMID:17941496|PMID:17942903|PMID:18558293|PMID:18725974|PMID:18759867|PMID:18767981|PMID:18986487|PMID:19265751|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19457929|PMID:19458356|PMID:19829307|PMID:19903786|PMID:20018398|PMID:20085938|PMID:20223021|PMID:20301661|PMID:20453058|PMID:20533527|PMID:20538496|PMID:20600018|PMID:20619739|PMID:20685300|PMID:20712882|PMID:20881644|PMID:20926450|PMID:21194675|PMID:21343951|PMID:21417916|PMID:21659347|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22162582|PMID:22162589|PMID:22266152|PMID:22281088|PMID:22381246|PMID:22479427|PMID:22491738|PMID:22520842|PMID:22595938|PMID:22628360|PMID:22703879|PMID:23161105|PMID:23315997|PMID:23335809|PMID:23349303|PMID:23399955|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23695273|PMID:23764071|PMID:23886400|PMID:23934601|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24136893|PMID:24345843|PMID:24375884|PMID:24404930|PMID:24468202|PMID:24498881|PMID:24656772|PMID:24728327|PMID:24763289|PMID:24766807|PMID:24778394|PMID:24809327|PMID:25132236|PMID:25157968|PMID:25186627|PMID:25288137|PMID:25326635|PMID:25429968|PMID:25527629|PMID:25549896|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26099045|PMID:26124082|PMID:26246517|PMID:26350204|PMID:26376867|PMID:26418532|PMID:26467025|PMID:26504226|PMID:26579216|PMID:26580448|PMID:26633542|PMID:26773036|PMID:26800850|PMID:26898890|PMID:26919320|PMID:27221918|PMID:27405757|PMID:27426521|PMID:27428751|PMID:27477328|PMID:27489861|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27829222|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28250423|PMID:28286253|PMID:28289760|PMID:28340209|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28526761|PMID:28655553|PMID:28677221|PMID:28755079|PMID:29273943|PMID:29371908|PMID:29373119|PMID:29594054|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29785012|PMID:29806868|PMID:29874181|PMID:29931205|PMID:29970488|PMID:30181857|PMID:30287823|PMID:30311369|PMID:30311380|PMID:30374176|PMID:30528446|PMID:30614812|PMID:30659124|PMID:30993208|PMID:31006514|PMID:31079897|PMID:31144778|PMID:31159747|PMID:31209962|PMID:31336731|PMID:31567591|PMID:31594918|PMID:32150788|PMID:32234455|PMID:32238909|PMID:32350270|PMID:32366478|PMID:32442409|PMID:32664367|PMID:32832836|PMID:32885271|PMID:33077954|PMID:33083010|PMID:33088792|PMID:33372952|PMID:33471991|PMID:33600059|PMID:33723755|PMID:33887726|PMID:34268892|PMID:34386506|PMID:35089076|PMID:35172517|PMID:35227301|PMID:35264596|PMID:35931053|PMID:36988593|PMID:7728760|PMID:792966|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9326929|PMID:9399897|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9600246|PMID:9735393|PMID:9740666|PMID:9811831|PMID:9856571 8706988 Pten phosphatase and tensin homolog gene DOID:3070 high grade glioma ISO RGD:69119 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Ependymoma | ClinVar Annotator: match by term: Glioma susceptibility 2 | ClinVar Annotator: match by term: Glioma susceptibility 9 PMID:10232405|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10555148|PMID:10749983|PMID:10777358|PMID:10848731|PMID:10866302|PMID:10920277|PMID:10923032|PMID:11051241|PMID:11156408|PMID:11234884|PMID:11274365|PMID:11332402|PMID:11494117|PMID:11504908|PMID:11685670|PMID:11918710|PMID:12085208|PMID:12372056|PMID:12471211|PMID:12614768|PMID:12844284|PMID:1336932|PMID:14518070|PMID:14675182|PMID:15016963|PMID:15120218|PMID:15211648|PMID:15254419|PMID:15492994|PMID:15647370|PMID:15769473|PMID:15805158|PMID:16199547|PMID:16752378|PMID:16773562|PMID:16952599|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17847000|PMID:17873882|PMID:17941496|PMID:17942903|PMID:18558293|PMID:18725974|PMID:18759867|PMID:18767981|PMID:18986487|PMID:19265751|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19457929|PMID:19458356|PMID:19829307|PMID:19903786|PMID:20018398|PMID:20085938|PMID:20223021|PMID:20301661|PMID:20453058|PMID:20533527|PMID:20538496|PMID:20600018|PMID:20619739|PMID:20685300|PMID:20712882|PMID:20881644|PMID:20926450|PMID:21194675|PMID:21343951|PMID:21417916|PMID:21659347|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22162582|PMID:22162589|PMID:22266152|PMID:22281088|PMID:22381246|PMID:22479427|PMID:22491738|PMID:22520842|PMID:22595938|PMID:22628360|PMID:22703879|PMID:23161105|PMID:23315997|PMID:23335809|PMID:23349303|PMID:23399955|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23695273|PMID:23764071|PMID:23886400|PMID:23934601|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24136893|PMID:24345843|PMID:24375884|PMID:24404930|PMID:24468202|PMID:24498881|PMID:24656772|PMID:24728327|PMID:24763289|PMID:24766807|PMID:24778394|PMID:24809327|PMID:25132236|PMID:25157968|PMID:25186627|PMID:25288137|PMID:25326635|PMID:25429968|PMID:25527629|PMID:25549896|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26099045|PMID:26124082|PMID:26246517|PMID:26350204|PMID:26376867|PMID:26418532|PMID:26467025|PMID:26504226|PMID:26579216|PMID:26580448|PMID:26633542|PMID:26773036|PMID:26800850|PMID:26898890|PMID:26919320|PMID:27221918|PMID:27405757|PMID:27426521|PMID:27428751|PMID:27477328|PMID:27489861|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27829222|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28250423|PMID:28286253|PMID:28289760|PMID:28340209|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28526761|PMID:28655553|PMID:28677221|PMID:28755079|PMID:29273943|PMID:29371908|PMID:29373119|PMID:29594054|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29785012|PMID:29806868|PMID:29874181|PMID:29931205|PMID:29970488|PMID:30181857|PMID:30287823|PMID:30311369|PMID:30311380|PMID:30374176|PMID:30528446|PMID:30614812|PMID:30659124|PMID:30993208|PMID:31006514|PMID:31079897|PMID:31144778|PMID:31159747|PMID:31209962|PMID:31336731|PMID:31567591|PMID:31594918|PMID:32150788|PMID:32234455|PMID:32238909|PMID:32350270|PMID:32366478|PMID:32442409|PMID:32664367|PMID:32832836|PMID:32885271|PMID:33077954|PMID:33083010|PMID:33088792|PMID:33372952|PMID:33471991|PMID:33600059|PMID:33723755|PMID:33887726|PMID:34268892|PMID:34386506|PMID:35089076|PMID:35172517|PMID:35227301|PMID:35264596|PMID:35931053|PMID:36988593|PMID:38311546|PMID:7728760|PMID:792966|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9326929|PMID:9399897|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9600246|PMID:9735393|PMID:9740666|PMID:9811831|PMID:9856571 8706988 Pten phosphatase and tensin homolog gene DOID:3070 high grade glioma ISO RGD:69119 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Glioma | ClinVar Annotator: match by term: Glioma susceptibility 2 PMID:10232405|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10555148|PMID:10749983|PMID:10777358|PMID:10848731|PMID:10866302|PMID:10920277|PMID:10923032|PMID:11051241|PMID:11071384|PMID:11156408|PMID:11234884|PMID:11332402|PMID:11494117|PMID:11685670|PMID:11918710|PMID:12085208|PMID:12372056|PMID:12471211|PMID:12614768|PMID:12844284|PMID:12938083|PMID:1336932|PMID:14518070|PMID:14675182|PMID:15120218|PMID:15211648|PMID:15492994|PMID:15769473|PMID:15805158|PMID:16199547|PMID:16752378|PMID:16773562|PMID:16952599|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17847000|PMID:17873119|PMID:17873882|PMID:17941496|PMID:17942903|PMID:18558293|PMID:18759867|PMID:18986487|PMID:19265751|PMID:19340001|PMID:19457929|PMID:19458356|PMID:19829307|PMID:20223021|PMID:20301661|PMID:20533527|PMID:20538496|PMID:20600018|PMID:20685300|PMID:20712882|PMID:20926450|PMID:21194675|PMID:21343951|PMID:21417916|PMID:21659347|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22266152|PMID:22281088|PMID:22381246|PMID:22491738|PMID:22503188|PMID:22520842|PMID:22595938|PMID:22628360|PMID:22703879|PMID:23161105|PMID:23315997|PMID:23335809|PMID:23349303|PMID:23399955|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23695273|PMID:23764071|PMID:23825907|PMID:23886400|PMID:23934601|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24136893|PMID:24345843|PMID:24375884|PMID:24404930|PMID:24468202|PMID:24498881|PMID:24656772|PMID:24728327|PMID:24763289|PMID:24766807|PMID:24778394|PMID:24809327|PMID:25132236|PMID:25157968|PMID:25186627|PMID:25288137|PMID:25326635|PMID:25429968|PMID:25527629|PMID:25549896|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26099045|PMID:26124082|PMID:26229595|PMID:26246517|PMID:26350204|PMID:26376867|PMID:26418532|PMID:26467025|PMID:26504226|PMID:26579216|PMID:26580448|PMID:26633542|PMID:26681312|PMID:26773036|PMID:26800850|PMID:26898890|PMID:26919320|PMID:27221918|PMID:27405757|PMID:27426521|PMID:27428751|PMID:27477328|PMID:27489861|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27829222|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28235761|PMID:28250423|PMID:28286253|PMID:28289760|PMID:28340209|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28526761|PMID:28655553|PMID:28677221|PMID:28755079|PMID:28873162|PMID:29273943|PMID:29371908|PMID:29373119|PMID:29594054|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29785012|PMID:29806868|PMID:29874181|PMID:29931205|PMID:29970488|PMID:30181857|PMID:30287823|PMID:30311369|PMID:30311380|PMID:30374176|PMID:30528446|PMID:30614812|PMID:30659124|PMID:30993208|PMID:31006514|PMID:31079897|PMID:31144778|PMID:31159747|PMID:31209962|PMID:31336731|PMID:31567591|PMID:31594918|PMID:32150788|PMID:32234455|PMID:32238909|PMID:32350270|PMID:32366478|PMID:32442409|PMID:32664367|PMID:32832836|PMID:32885271|PMID:33077954|PMID:33083010|PMID:33088792|PMID:33372952|PMID:33471991|PMID:33600059|PMID:33723755|PMID:33887726|PMID:34268892|PMID:34308366|PMID:34386506|PMID:34793697|PMID:35089076|PMID:35172517|PMID:35227301|PMID:35264596|PMID:35931053|PMID:35971940|PMID:36988593|PMID:38311546|PMID:38645101|PMID:7728760|PMID:792966|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9326929|PMID:9399897|PMID:9467011|PMID:9536098|PMID:9600246|PMID:9735393|PMID:9740666|PMID:9811831|PMID:9856571 8706988 Pten phosphatase and tensin homolog gene DOID:3070 high grade glioma ISO RGD:69119 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Glioma | ClinVar Annotator: match by term: Glioma susceptibility 2 | ClinVar Annotator: match by term: Glioma susceptibility 9 PMID:10232405|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10555148|PMID:10749983|PMID:10777358|PMID:10848731|PMID:10866302|PMID:10920277|PMID:10923032|PMID:11051241|PMID:11071384|PMID:11156408|PMID:11234884|PMID:11332402|PMID:11494117|PMID:11685670|PMID:11918710|PMID:12085208|PMID:12372056|PMID:12471211|PMID:12614768|PMID:12844284|PMID:12938083|PMID:1336932|PMID:14518070|PMID:14675182|PMID:15120218|PMID:15211648|PMID:15492994|PMID:15769473|PMID:15805158|PMID:16199547|PMID:16752378|PMID:16773562|PMID:16952599|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17847000|PMID:17873119|PMID:17873882|PMID:17941496|PMID:17942903|PMID:18558293|PMID:18759867|PMID:19340001|PMID:19457929|PMID:19458356|PMID:19829307|PMID:20223021|PMID:20301661|PMID:20538496|PMID:20600018|PMID:20685300|PMID:20712882|PMID:20926450|PMID:21194675|PMID:21343951|PMID:21417916|PMID:21659347|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22266152|PMID:22281088|PMID:22381246|PMID:22491738|PMID:22503188|PMID:22520842|PMID:22595938|PMID:22628360|PMID:22703879|PMID:23161105|PMID:23315997|PMID:23335809|PMID:23349303|PMID:23399955|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23695273|PMID:23764071|PMID:23825907|PMID:23886400|PMID:23934601|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24136893|PMID:24345843|PMID:24375884|PMID:24404930|PMID:24468202|PMID:24498881|PMID:24656772|PMID:24728327|PMID:24763289|PMID:24766807|PMID:24778394|PMID:24809327|PMID:25132236|PMID:25157968|PMID:25186627|PMID:25288137|PMID:25326635|PMID:25429968|PMID:25527629|PMID:25549896|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26099045|PMID:26124082|PMID:26229595|PMID:26246517|PMID:26350204|PMID:26376867|PMID:26418532|PMID:26467025|PMID:26504226|PMID:26579216|PMID:26580448|PMID:26633542|PMID:26681312|PMID:26773036|PMID:26800850|PMID:26898890|PMID:26919320|PMID:27221918|PMID:27405757|PMID:27426521|PMID:27428751|PMID:27477328|PMID:27489861|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27829222|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28235761|PMID:28250423|PMID:28286253|PMID:28289760|PMID:28340209|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28526761|PMID:28655553|PMID:28677221|PMID:28755079|PMID:28873162|PMID:29273943|PMID:29371908|PMID:29373119|PMID:29594054|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29785012|PMID:29806868|PMID:29874181|PMID:29931205|PMID:29970488|PMID:30181857|PMID:30287823|PMID:30311369|PMID:30311380|PMID:30374176|PMID:30528446|PMID:30614812|PMID:30659124|PMID:30993208|PMID:31006514|PMID:31079897|PMID:31144778|PMID:31159747|PMID:31209962|PMID:31336731|PMID:31567591|PMID:31594918|PMID:32037394|PMID:32150788|PMID:32234455|PMID:32238909|PMID:32350270|PMID:32366478|PMID:32442409|PMID:32664367|PMID:32885271|PMID:33077954|PMID:33083010|PMID:33088792|PMID:33372952|PMID:33471991|PMID:33600059|PMID:33723755|PMID:33887726|PMID:34268892|PMID:34308366|PMID:34386506|PMID:34793697|PMID:35089076|PMID:35172517|PMID:35227301|PMID:35264596|PMID:35931053|PMID:35971940|PMID:36988593|PMID:38311546|PMID:38645101|PMID:7728760|PMID:792966|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9326929|PMID:9399897|PMID:9467011|PMID:9536098|PMID:9600246|PMID:9735393|PMID:9740666|PMID:9811831|PMID:9856571 8706988 Pten phosphatase and tensin homolog gene DOID:3070 high grade glioma ISO RGD:69119 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Glioma | ClinVar Annotator: match by term: Glioma susceptibility 2 | ClinVar Annotator: match by term: Glioma susceptibility 9 PMID:10232405|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10555148|PMID:10749983|PMID:10777358|PMID:10848731|PMID:10866302|PMID:10920277|PMID:10923032|PMID:11051241|PMID:11071384|PMID:11156408|PMID:11234884|PMID:11332402|PMID:11494117|PMID:11685670|PMID:11918710|PMID:12085208|PMID:12372056|PMID:12471211|PMID:12614768|PMID:12844284|PMID:12938083|PMID:1336932|PMID:14518070|PMID:14675182|PMID:15120218|PMID:15211648|PMID:15492994|PMID:15769473|PMID:15805158|PMID:16199547|PMID:16752378|PMID:16773562|PMID:16952599|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17847000|PMID:17873119|PMID:17873882|PMID:17941496|PMID:17942903|PMID:18558293|PMID:18759867|PMID:19340001|PMID:19457929|PMID:19458356|PMID:19829307|PMID:20223021|PMID:20301661|PMID:20538496|PMID:20600018|PMID:20685300|PMID:20712882|PMID:20926450|PMID:21194675|PMID:21343951|PMID:21417916|PMID:21659347|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22266152|PMID:22281088|PMID:22381246|PMID:22491738|PMID:22503188|PMID:22520842|PMID:22595938|PMID:22628360|PMID:22703879|PMID:23161105|PMID:23315997|PMID:23335809|PMID:23349303|PMID:23399955|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23695273|PMID:23764071|PMID:23825907|PMID:23886400|PMID:23934601|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24136893|PMID:24345843|PMID:24375884|PMID:24404930|PMID:24468202|PMID:24498881|PMID:24656772|PMID:24728327|PMID:24763289|PMID:24766807|PMID:24778394|PMID:24809327|PMID:25132236|PMID:25157968|PMID:25186627|PMID:25288137|PMID:25326635|PMID:25429968|PMID:25527629|PMID:25549896|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25910213|PMID:25937288|PMID:25944380|PMID:25980754|PMID:26076150|PMID:26099045|PMID:26124082|PMID:26229595|PMID:26246517|PMID:26350204|PMID:26376867|PMID:26418532|PMID:26467025|PMID:26504226|PMID:26579216|PMID:26580448|PMID:26633542|PMID:26681312|PMID:26773036|PMID:26800850|PMID:26898890|PMID:26919320|PMID:27221918|PMID:27405757|PMID:27426521|PMID:27428751|PMID:27477328|PMID:27489861|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27829222|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28235761|PMID:28250423|PMID:28286253|PMID:28289760|PMID:28340209|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28526761|PMID:28655553|PMID:28677221|PMID:28755079|PMID:28873162|PMID:29273943|PMID:29371908|PMID:29373119|PMID:29594054|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29785012|PMID:29806868|PMID:29874181|PMID:29931205|PMID:29970488|PMID:30181857|PMID:30287823|PMID:30311369|PMID:30311380|PMID:30374176|PMID:30528446|PMID:30614812|PMID:30659124|PMID:30993208|PMID:31006514|PMID:31079897|PMID:31144778|PMID:31159747|PMID:31209962|PMID:31336731|PMID:31567591|PMID:31594918|PMID:32037394|PMID:32150788|PMID:32234455|PMID:32238909|PMID:32350270|PMID:32366478|PMID:32442409|PMID:32664367|PMID:32885271|PMID:33077954|PMID:33083010|PMID:33088792|PMID:33372952|PMID:33471991|PMID:33600059|PMID:33723755|PMID:33887726|PMID:34268892|PMID:34308366|PMID:34386506|PMID:34793697|PMID:35089076|PMID:35172517|PMID:35227301|PMID:35264596|PMID:35931053|PMID:35971940|PMID:35982159|PMID:36959127|PMID:36988593|PMID:38311546|PMID:38645101|PMID:7728760|PMID:792966|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9326929|PMID:9399897|PMID:9467011|PMID:9536098|PMID:9600246|PMID:9735393|PMID:9740666|PMID:9811831|PMID:9856571 8706988 Pten phosphatase and tensin homolog gene DOID:3151 skin squamous cell carcinoma ameliorates ISO RGD:1556939|RGD:1323418 D RGD:9068941 20210625 RGD PMID:24582960|REF_RGD_ID:126928134 8706988 Pten phosphatase and tensin homolog gene DOID:3153 lipomatosis ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11748304 8706988 Pten phosphatase and tensin homolog gene DOID:3247 rhabdomyosarcoma ISO RGD:69119 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Rhabdomyosarcoma PMID:10848731|PMID:10923032|PMID:11332402|PMID:11918710|PMID:16773562|PMID:17286265|PMID:20301661|PMID:21194675|PMID:21956414|PMID:22266152|PMID:22381246|PMID:23335809|PMID:23470840|PMID:23764071|PMID:23934601|PMID:24033266|PMID:24345843|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28526761|PMID:28655553|PMID:29594054|PMID:30614812|PMID:30659124|PMID:33083010|PMID:33372952|PMID:36988593|PMID:9259288|PMID:9467011|PMID:9856571 8706988 Pten phosphatase and tensin homolog gene DOID:3314 angiomyolipoma ISO RGD:69119 D RGD:9068941 20200609 RGD protein:increased expression:kidney (human) PMID:22737271|REF_RGD_ID:12802360 8706988 Pten phosphatase and tensin homolog gene DOID:3315 lipoma ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9286463 8706988 Pten phosphatase and tensin homolog gene DOID:3459 breast carcinoma ISO RGD:69119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast carcinoma PMID:16773562|PMID:21194675|PMID:28492532|PMID:9467011 8706988 Pten phosphatase and tensin homolog gene DOID:3565 meningioma ISO RGD:69119 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Meningioma PMID:12085208|PMID:17873882|PMID:19340001|PMID:19458356|PMID:19829307|PMID:22491738|PMID:23349303|PMID:23442912|PMID:24809327|PMID:25741868|PMID:26773036|PMID:27221918|PMID:28492532|PMID:28755079|PMID:29373119|PMID:30287823|PMID:792966 8706988 Pten phosphatase and tensin homolog gene DOID:37 skin disease ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19321504 8706988 Pten phosphatase and tensin homolog gene DOID:3717 gastric adenocarcinoma ISO RGD:69119 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach | ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:10866302|PMID:11504908|PMID:11875759|PMID:11948419|PMID:16773562|PMID:17526801|PMID:17942903|PMID:18767981|PMID:1945792|PMID:19457929|PMID:20085938|PMID:20300775|PMID:20301661|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23335809|PMID:23361946|PMID:23399955|PMID:23470840|PMID:24292679|PMID:24778394|PMID:25157968|PMID:25527629|PMID:25741868|PMID:26619011|PMID:26798346|PMID:27477328|PMID:27535533|PMID:28475857|PMID:28492532|PMID:29359449|PMID:29706350|PMID:30311380|PMID:30528446|PMID:31159747|PMID:32350270|PMID:33077954|PMID:9467011|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:3717 gastric adenocarcinoma ISO RGD:69119 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach | ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:10866302|PMID:11051241|PMID:11504908|PMID:11875759|PMID:11948419|PMID:16773562|PMID:17942903|PMID:18767981|PMID:1945792|PMID:19457929|PMID:20085938|PMID:20300775|PMID:20301661|PMID:20926450|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23335809|PMID:23361946|PMID:23399955|PMID:23470840|PMID:24292679|PMID:24778394|PMID:25157968|PMID:25527629|PMID:25741868|PMID:26418532|PMID:26619011|PMID:26798346|PMID:27147599|PMID:27477328|PMID:27535533|PMID:28475857|PMID:28492532|PMID:28677221|PMID:29359449|PMID:29706350|PMID:29785012|PMID:30311380|PMID:30528446|PMID:31159747|PMID:31636093|PMID:32350270|PMID:32442409|PMID:33077954|PMID:9467011|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:3742 bladder squamous cell carcinoma disease_progression ISO RGD:69119 D RGD:9068941 20210625 RGD associated with schistosomiasis;protein:decreased expression:urothelium (human) PMID:26916953|REF_RGD_ID:127285612 8706988 Pten phosphatase and tensin homolog gene DOID:3907 lung squamous cell carcinoma ISO RGD:69119 D RGD:8554872 20250114 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma 8706988 Pten phosphatase and tensin homolog gene DOID:3908 lung non-small cell carcinoma ISO RGD:69119 D RGD:9068941 20250116 RGD DNA:loss of heterozygosity:cds: (human) PMID:9458098|REF_RGD_ID:12832745 8706988 Pten phosphatase and tensin homolog gene DOID:3908 lung non-small cell carcinoma ISO RGD:69119 D RGD:9068941 20250116 RGD mRNA:decreased expression:lung (human) PMID:20223231|PMID:22956424|REF_RGD_ID:152998889|REF_RGD_ID:152998901 8706988 Pten phosphatase and tensin homolog gene DOID:3910 lung adenocarcinoma ISO RGD:69119 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 8706988 Pten phosphatase and tensin homolog gene DOID:3962 follicular thyroid carcinoma ISO RGD:69119 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: THYROID CARCINOMA, FOLLICULAR PMID:24033266|PMID:24055113|PMID:25741868|PMID:25980754|PMID:28492532|PMID:29706350|PMID:29785012|PMID:30311380|PMID:32350270|PMID:32885271|PMID:34793697|PMID:35931053|PMID:38645101 8706988 Pten phosphatase and tensin homolog gene DOID:4450 renal cell carcinoma ISO RGD:69119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma PMID:10866302|PMID:11504908|PMID:11875759|PMID:11948419|PMID:16773562|PMID:17526801|PMID:17942903|PMID:18767981|PMID:1945792|PMID:19457929|PMID:20085938|PMID:20300775|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23335809|PMID:23361946|PMID:23399955|PMID:23470840|PMID:24292679|PMID:24778394|PMID:25157968|PMID:25527629|PMID:25741868|PMID:26619011|PMID:26798346|PMID:27477328|PMID:27535533|PMID:28475857|PMID:28492532|PMID:29359449|PMID:29706350|PMID:31159747|PMID:32350270|PMID:33077954|PMID:9467011|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:4450 renal cell carcinoma ISO RGD:69119 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma PMID:10866302|PMID:11504908|PMID:11875759|PMID:11948419|PMID:16773562|PMID:17526801|PMID:17942903|PMID:18767981|PMID:1945792|PMID:19457929|PMID:20085938|PMID:20300775|PMID:20301661|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23335809|PMID:23361946|PMID:23399955|PMID:23470840|PMID:24292679|PMID:24778394|PMID:25157968|PMID:25527629|PMID:25741868|PMID:26619011|PMID:26798346|PMID:27477328|PMID:27535533|PMID:28475857|PMID:28492532|PMID:29359449|PMID:29706350|PMID:30311380|PMID:30528446|PMID:31159747|PMID:32350270|PMID:33077954|PMID:9467011|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:69119 D RGD:9068941 20200609 RGD PMID:15821467|REF_RGD_ID:2292513 8706988 Pten phosphatase and tensin homolog gene DOID:4586 familial meningioma ISO RGD:69119 D RGD:7240710 20250305 OMIM 8706988 Pten phosphatase and tensin homolog gene DOID:4586 familial meningioma ISO RGD:69119 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Familial meningioma | ClinVar Annotator: match by term: Meningioma, familial, susceptibility to PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10555148|PMID:10749983|PMID:10848731|PMID:10866302|PMID:10920277|PMID:10923032|PMID:11071384|PMID:11332402|PMID:11685670|PMID:11918710|PMID:12372056|PMID:12844284|PMID:12938083|PMID:14518070|PMID:14566704|PMID:15492994|PMID:16014636|PMID:16773562|PMID:17286265|PMID:17392703|PMID:17526800|PMID:17526801|PMID:17847000|PMID:17873119|PMID:17898811|PMID:17942903|PMID:18558293|PMID:19457929|PMID:20301661|PMID:20600018|PMID:20926450|PMID:21194675|PMID:21343951|PMID:21659347|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22266152|PMID:22381246|PMID:22595938|PMID:22628360|PMID:22703879|PMID:23161105|PMID:23335809|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23695273|PMID:23764071|PMID:23825907|PMID:23934601|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24136893|PMID:24345843|PMID:24375884|PMID:24468202|PMID:24728327|PMID:24763289|PMID:24766807|PMID:24778394|PMID:25132236|PMID:25157968|PMID:25186627|PMID:25326635|PMID:25549896|PMID:25669429|PMID:25741868|PMID:25756585|PMID:25875300|PMID:25910213|PMID:25944380|PMID:25980754|PMID:26124082|PMID:26229595|PMID:26467025|PMID:26468640|PMID:26580448|PMID:26681312|PMID:26800850|PMID:26898890|PMID:27428751|PMID:27477328|PMID:27531073|PMID:27535533|PMID:28008555|PMID:28135145|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28526761|PMID:28655553|PMID:28677221|PMID:29371908|PMID:29594054|PMID:29706350|PMID:29785012|PMID:29874181|PMID:30287823|PMID:30311380|PMID:30614812|PMID:30659124|PMID:31006514|PMID:31144778|PMID:31159747|PMID:31209962|PMID:31567591|PMID:32196895|PMID:32238909|PMID:32350270|PMID:32366478|PMID:32442409|PMID:32885271|PMID:33077954|PMID:33083010|PMID:33372952|PMID:33471991|PMID:33600059|PMID:33876391|PMID:33887726|PMID:34268892|PMID:34793697|PMID:35227301|PMID:35264596|PMID:35931053|PMID:36681873|PMID:36988593|PMID:38311546|PMID:38645101|PMID:39825153|PMID:9259288|PMID:9399897|PMID:9425889|PMID:9467011|PMID:9600246|PMID:9856571 8706988 Pten phosphatase and tensin homolog gene DOID:4928 intrahepatic cholangiocarcinoma disease_progression ISO RGD:69119 D RGD:9068941 20220519 RGD protein:decreased expression:liver (human) PMID:24796583|REF_RGD_ID:152177907 8706988 Pten phosphatase and tensin homolog gene DOID:4947 cholangiocarcinoma ISO RGD:62287 D RGD:9068941 20200609 RGD PMID:23376645|REF_RGD_ID:12802341 8706988 Pten phosphatase and tensin homolog gene DOID:4947 cholangiocarcinoma ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27022031 8706988 Pten phosphatase and tensin homolog gene DOID:5041 esophageal cancer ISO RGD:69119 D RGD:9068941 20220630 RGD protein:decreased expression:esophagus (human) PMID:27188433|REF_RGD_ID:152995510 8706988 Pten phosphatase and tensin homolog gene DOID:5041 esophageal cancer treatment ISO RGD:69119 D RGD:9068941 20210625 RGD human gene and cells in a mouse model PMID:20378992|REF_RGD_ID:127285592 8706988 Pten phosphatase and tensin homolog gene DOID:5082 liver cirrhosis ISO RGD:62287 D RGD:9068941 20210625 RGD associated with schistosomiasis;protein, mRNA:decreased expression:liver (mouse) PMID:31907686|REF_RGD_ID:127285596 8706988 Pten phosphatase and tensin homolog gene DOID:5082 liver cirrhosis ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26023714 8706988 Pten phosphatase and tensin homolog gene DOID:5409 lung small cell carcinoma ISO RGD:69119 D RGD:9068941 20250116 CTD CTD Direct Evidence: marker/mechanism PMID:22941188 8706988 Pten phosphatase and tensin homolog gene DOID:5419 schizophrenia ISO RGD:69119 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 8706988 Pten phosphatase and tensin homolog gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:69119 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:11801303|PMID:24033266|PMID:24055113|PMID:25741868|PMID:25980754|PMID:28492532|PMID:29706350|PMID:29785012|PMID:30311380|PMID:32350270|PMID:32885271|PMID:34793697|PMID:35931053|PMID:38645101 8706988 Pten phosphatase and tensin homolog gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10076877|PMID:10400993|PMID:11108659|PMID:12938083|PMID:14566704|PMID:16598737|PMID:16773562|PMID:17427195|PMID:17942903|PMID:20395440|PMID:21828076|PMID:22261759|PMID:22558107|PMID:23161105|PMID:23934111|PMID:24004025|PMID:24033266|PMID:24375884|PMID:24744697|PMID:25741868|PMID:26467025|PMID:26681312|PMID:27477328|PMID:28263302|PMID:28492532|PMID:29706350|PMID:29785012|PMID:30287823|PMID:32295079|PMID:32566746|PMID:9619835 8706988 Pten phosphatase and tensin homolog gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69119 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10076877|PMID:10400993|PMID:11108659|PMID:12938083|PMID:14566704|PMID:16598737|PMID:16773562|PMID:17427195|PMID:17942903|PMID:20395440|PMID:21828076|PMID:22261759|PMID:22558107|PMID:23161105|PMID:23934111|PMID:24004025|PMID:24033266|PMID:24375884|PMID:24744697|PMID:25741868|PMID:26467025|PMID:26681312|PMID:27477328|PMID:28263302|PMID:28492532|PMID:30287823|PMID:32295079|PMID:32566746|PMID:9619835 8706988 Pten phosphatase and tensin homolog gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69119 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10076877|PMID:10400993|PMID:12938083|PMID:14566704|PMID:17427195|PMID:17942903|PMID:21828076|PMID:22261759|PMID:22558107|PMID:23161105|PMID:23934111|PMID:24033266|PMID:24375884|PMID:24744697|PMID:25741868|PMID:26467025|PMID:26681312|PMID:27477328|PMID:28263302|PMID:28492532|PMID:29706350|PMID:29785012|PMID:30287823|PMID:32295079|PMID:32566746|PMID:9619835 8706988 Pten phosphatase and tensin homolog gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69119 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10076877|PMID:10400993|PMID:12938083|PMID:14566704|PMID:14623110|PMID:17427195|PMID:17942903|PMID:21194675|PMID:21828076|PMID:22261759|PMID:22558107|PMID:23161105|PMID:23315997|PMID:23934111|PMID:24033266|PMID:24375884|PMID:24744697|PMID:25669429|PMID:25741868|PMID:26467025|PMID:26681312|PMID:27477328|PMID:27535533|PMID:28263302|PMID:28492532|PMID:28677221|PMID:29706350|PMID:29785012|PMID:30287823|PMID:32234455|PMID:32295079|PMID:32566746|PMID:33471991|PMID:9619835|PMID:9788441 8706988 Pten phosphatase and tensin homolog gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69119 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10076877|PMID:10400993|PMID:12938083|PMID:14566704|PMID:14623110|PMID:17427195|PMID:17942903|PMID:21194675|PMID:21828076|PMID:22261759|PMID:22558107|PMID:23161105|PMID:23315997|PMID:23934111|PMID:24033266|PMID:24375884|PMID:24744697|PMID:25669429|PMID:25741868|PMID:26467025|PMID:26681312|PMID:27477328|PMID:27535533|PMID:28263302|PMID:28492532|PMID:28677221|PMID:29706350|PMID:29785012|PMID:30287823|PMID:32234455|PMID:32295079|PMID:32566746|PMID:33471991|PMID:36988593|PMID:9619835|PMID:9788441 8706988 Pten phosphatase and tensin homolog gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69119 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10076877|PMID:10400993|PMID:12938083|PMID:14566704|PMID:14623110|PMID:17427195|PMID:17942903|PMID:21194675|PMID:21828076|PMID:22261759|PMID:22558107|PMID:23161105|PMID:23315997|PMID:23934111|PMID:24033266|PMID:24375884|PMID:24744697|PMID:25669429|PMID:25741868|PMID:26467025|PMID:26681312|PMID:27477328|PMID:27535533|PMID:28263302|PMID:28492532|PMID:28677221|PMID:29706350|PMID:29785012|PMID:30287823|PMID:32234455|PMID:32295079|PMID:32350270|PMID:32566746|PMID:33471991|PMID:36988593|PMID:9619835|PMID:9788441 8706988 Pten phosphatase and tensin homolog gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69119 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10076877|PMID:10400993|PMID:12938083|PMID:14566704|PMID:14623110|PMID:17427195|PMID:17942903|PMID:21194675|PMID:21828076|PMID:22261759|PMID:22558107|PMID:23161105|PMID:23315997|PMID:23934111|PMID:24033266|PMID:24375884|PMID:24744697|PMID:25669429|PMID:25741868|PMID:26467025|PMID:26681312|PMID:27477328|PMID:27535533|PMID:28263302|PMID:28492532|PMID:28677221|PMID:29706350|PMID:29785012|PMID:29945567|PMID:30287823|PMID:32234455|PMID:32295079|PMID:32350270|PMID:32566746|PMID:33471991|PMID:36988593|PMID:9619835|PMID:9788441 8706988 Pten phosphatase and tensin homolog gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69119 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10076877|PMID:10400993|PMID:12938083|PMID:14566704|PMID:14623110|PMID:17427195|PMID:17942903|PMID:21194675|PMID:21828076|PMID:22261759|PMID:22558107|PMID:23161105|PMID:23315997|PMID:23934111|PMID:24033266|PMID:24375884|PMID:24744697|PMID:25669429|PMID:25741868|PMID:26467025|PMID:26681312|PMID:27477328|PMID:28263302|PMID:28492532|PMID:28677221|PMID:29706350|PMID:29785012|PMID:29945567|PMID:30287823|PMID:32234455|PMID:32295079|PMID:32350270|PMID:32566746|PMID:33471991|PMID:36988593|PMID:9619835|PMID:9788441 8706988 Pten phosphatase and tensin homolog gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69119 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10076877|PMID:10400993|PMID:12938083|PMID:14566704|PMID:14623110|PMID:17427195|PMID:17942903|PMID:21194675|PMID:21828076|PMID:22261759|PMID:22558107|PMID:23161105|PMID:23315997|PMID:23934111|PMID:24033266|PMID:24375884|PMID:24744697|PMID:25669429|PMID:25741868|PMID:26467025|PMID:26681312|PMID:27477328|PMID:28263302|PMID:28492532|PMID:28677221|PMID:29706350|PMID:29785012|PMID:29945567|PMID:30287823|PMID:32234455|PMID:32295079|PMID:32350270|PMID:32566746|PMID:33471991|PMID:34268892|PMID:36988593|PMID:9619835|PMID:9788441 8706988 Pten phosphatase and tensin homolog gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69119 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10076877|PMID:10400993|PMID:10555148|PMID:12372056|PMID:12938083|PMID:14566704|PMID:14623110|PMID:16773562|PMID:17427195|PMID:17942903|PMID:21194675|PMID:21343951|PMID:21659347|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22261759|PMID:22558107|PMID:22703879|PMID:23161105|PMID:23315997|PMID:23442912|PMID:23555315|PMID:23934111|PMID:24033266|PMID:24136893|PMID:24375884|PMID:24744697|PMID:24763289|PMID:25132236|PMID:25669429|PMID:25741868|PMID:25980754|PMID:26124082|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26800850|PMID:26898890|PMID:27428751|PMID:27477328|PMID:27535533|PMID:28008555|PMID:28263302|PMID:28418444|PMID:28492532|PMID:28677221|PMID:29371908|PMID:29706350|PMID:29785012|PMID:29945567|PMID:30287823|PMID:30374176|PMID:31006514|PMID:31144778|PMID:31159747|PMID:31209962|PMID:31567591|PMID:32234455|PMID:32295079|PMID:32350270|PMID:32366478|PMID:32566746|PMID:33471991|PMID:34268892|PMID:35931053|PMID:36988593|PMID:9619835|PMID:9788441 8706988 Pten phosphatase and tensin homolog gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69119 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10076877|PMID:10400993|PMID:10555148|PMID:12372056|PMID:12938083|PMID:14566704|PMID:14623110|PMID:16773562|PMID:17427195|PMID:17942903|PMID:21194675|PMID:21343951|PMID:21659347|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22261759|PMID:22558107|PMID:22703879|PMID:23161105|PMID:23315997|PMID:23442912|PMID:23555315|PMID:23934111|PMID:24033266|PMID:24136893|PMID:24375884|PMID:24744697|PMID:24763289|PMID:25132236|PMID:25669429|PMID:25741868|PMID:25980754|PMID:26124082|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26800850|PMID:26898890|PMID:27428751|PMID:27477328|PMID:27535533|PMID:28008555|PMID:28263302|PMID:28418444|PMID:28492532|PMID:28677221|PMID:29371908|PMID:29706350|PMID:29785012|PMID:29945567|PMID:30287823|PMID:30374176|PMID:31006514|PMID:31144778|PMID:31159747|PMID:31209962|PMID:31567591|PMID:32234455|PMID:32295079|PMID:32350270|PMID:32366478|PMID:32566746|PMID:33471991|PMID:34268892|PMID:35931053|PMID:36988593|PMID:38028594|PMID:9619835|PMID:9788441 8706988 Pten phosphatase and tensin homolog gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69119 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10076877|PMID:10400993|PMID:10555148|PMID:12372056|PMID:12844284|PMID:14566704|PMID:14623110|PMID:16773562|PMID:17427195|PMID:17942903|PMID:21194675|PMID:21343951|PMID:21659347|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22261759|PMID:22558107|PMID:22703879|PMID:23315997|PMID:23442912|PMID:23555315|PMID:23934111|PMID:24033266|PMID:24136893|PMID:24375884|PMID:24763289|PMID:25132236|PMID:25669429|PMID:25741868|PMID:25980754|PMID:26124082|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26800850|PMID:26898890|PMID:27428751|PMID:27477328|PMID:27535533|PMID:28008555|PMID:28418444|PMID:28492532|PMID:28677221|PMID:29371908|PMID:29706350|PMID:29785012|PMID:29945567|PMID:30287823|PMID:30374176|PMID:31006514|PMID:31144778|PMID:31159747|PMID:31209962|PMID:31567591|PMID:32234455|PMID:32295079|PMID:32350270|PMID:32366478|PMID:32566746|PMID:32959437|PMID:33471991|PMID:34268892|PMID:35931053|PMID:36988593|PMID:38028594|PMID:9619835|PMID:9788441 8706988 Pten phosphatase and tensin homolog gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69119 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10076877|PMID:10400993|PMID:10555148|PMID:12372056|PMID:12844284|PMID:14566704|PMID:14623110|PMID:16773562|PMID:17427195|PMID:17942903|PMID:21194675|PMID:21343951|PMID:21659347|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22261759|PMID:22558107|PMID:22703879|PMID:23315997|PMID:23442912|PMID:23555315|PMID:23934111|PMID:24033266|PMID:24136893|PMID:24375884|PMID:24763289|PMID:25132236|PMID:25669429|PMID:25741868|PMID:25980754|PMID:26124082|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26800850|PMID:26898890|PMID:27428751|PMID:27477328|PMID:27535533|PMID:28008555|PMID:28418444|PMID:28492532|PMID:28677221|PMID:29371908|PMID:29706350|PMID:29785012|PMID:29945567|PMID:30287823|PMID:30374176|PMID:31006514|PMID:31144778|PMID:31159747|PMID:31209962|PMID:31567591|PMID:32185379|PMID:32234455|PMID:32295079|PMID:32350270|PMID:32366478|PMID:32566746|PMID:32959437|PMID:33471991|PMID:34268892|PMID:35264596|PMID:35931053|PMID:36988593|PMID:38028594|PMID:9619835|PMID:9788441 8706988 Pten phosphatase and tensin homolog gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69119 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10076877|PMID:10400993|PMID:10555148|PMID:12372056|PMID:12844284|PMID:14566704|PMID:14623110|PMID:15689448|PMID:16773562|PMID:17427195|PMID:17942903|PMID:21194675|PMID:21343951|PMID:21659347|PMID:21828076|PMID:21869887|PMID:21943391|PMID:21956414|PMID:22261759|PMID:22558107|PMID:22703879|PMID:23315997|PMID:23442912|PMID:23555315|PMID:23934111|PMID:24033266|PMID:24136893|PMID:24375884|PMID:24763289|PMID:25132236|PMID:25669429|PMID:25741868|PMID:25980754|PMID:26124082|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26800850|PMID:26898890|PMID:27428751|PMID:27477328|PMID:27535533|PMID:28008555|PMID:28418444|PMID:28492532|PMID:28677221|PMID:29371908|PMID:29706350|PMID:29785012|PMID:29945567|PMID:30287823|PMID:30311380|PMID:30374176|PMID:31006514|PMID:31144778|PMID:31159747|PMID:31209962|PMID:31567591|PMID:32185379|PMID:32234455|PMID:32295079|PMID:32350270|PMID:32366478|PMID:32566746|PMID:32959437|PMID:33471991|PMID:34268892|PMID:34793697|PMID:35264596|PMID:35931053|PMID:36988593|PMID:38028594|PMID:38645101|PMID:9619835|PMID:9788441 8706988 Pten phosphatase and tensin homolog gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69119 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10076877|PMID:10400993|PMID:10555148|PMID:12372056|PMID:12844284|PMID:14566704|PMID:14623110|PMID:16773562|PMID:17427195|PMID:17942903|PMID:21194675|PMID:21343951|PMID:21659347|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22261759|PMID:22558107|PMID:22703879|PMID:23315997|PMID:23442912|PMID:23555315|PMID:23934111|PMID:24033266|PMID:24136893|PMID:24375884|PMID:24763289|PMID:25132236|PMID:25669429|PMID:25741868|PMID:25980754|PMID:26124082|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26800850|PMID:26898890|PMID:27428751|PMID:27477328|PMID:27535533|PMID:28008555|PMID:28418444|PMID:28492532|PMID:28677221|PMID:29371908|PMID:29706350|PMID:29785012|PMID:29945567|PMID:30287823|PMID:30311380|PMID:30374176|PMID:31006514|PMID:31144778|PMID:31159747|PMID:31209962|PMID:31567591|PMID:32185379|PMID:32234455|PMID:32295079|PMID:32350270|PMID:32366478|PMID:32566746|PMID:32959437|PMID:33471991|PMID:34268892|PMID:34793697|PMID:35264596|PMID:35931053|PMID:36988593|PMID:38028594|PMID:38645101|PMID:9619835|PMID:9788441 8706988 Pten phosphatase and tensin homolog gene DOID:630 genetic disease ISO RGD:69119 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21194675|PMID:25669429|PMID:28475857|PMID:28492532 8706988 Pten phosphatase and tensin homolog gene DOID:6457 Cowden syndrome ISO RGD:69119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cowden disease | ClinVar Annotator: match by term: Cowden syndrome | ClinVar Annotator: match by term: Cowden's syndrome | ClinVar Annotator: match by term: Lhermitte-Duclos disease PMID:10051160|PMID:10232405|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10555148|PMID:10749983|PMID:10848731|PMID:10920277|PMID:10923032|PMID:11504908|PMID:11685670|PMID:14518070|PMID:15016963|PMID:15211648|PMID:15254419|PMID:15647370|PMID:16952599|PMID:17392703|PMID:17526800|PMID:17873882|PMID:17941496|PMID:17942903|PMID:18558293|PMID:18725974|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19458356|PMID:19829307|PMID:19903786|PMID:20018398|PMID:20085938|PMID:20453058|PMID:20600018|PMID:20619739|PMID:20881644|PMID:21194675|PMID:21343951|PMID:21659347|PMID:21828076|PMID:21956414|PMID:22162582|PMID:22162589|PMID:22281088|PMID:22381246|PMID:22479427|PMID:22491738|PMID:22520842|PMID:23335809|PMID:23349303|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23695273|PMID:23886400|PMID:24033266|PMID:24052722|PMID:24778394|PMID:25157968|PMID:25288137|PMID:25326635|PMID:25669429|PMID:25741868|PMID:25756585|PMID:26376867|PMID:26467025|PMID:26492180|PMID:26773036|PMID:26845104|PMID:27324988|PMID:27426521|PMID:27477328|PMID:27959697|PMID:28286253|PMID:28492532|PMID:28526761|PMID:29663862|PMID:30287823|PMID:30614812|PMID:30793491|PMID:32238909|PMID:33077954|PMID:8071972|PMID:9140396|PMID:9241266|PMID:9259288|PMID:9399897|PMID:9467011|PMID:9598803 8706988 Pten phosphatase and tensin homolog gene DOID:6457 Cowden syndrome ISO RGD:69119 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Cowden disease | ClinVar Annotator: match by term: Cowden syndrome | ClinVar Annotator: match by term: Lhermitte-Duclos disease PMID:10051160|PMID:10232405|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10555148|PMID:10749983|PMID:10848731|PMID:10866302|PMID:10920277|PMID:10923032|PMID:11685670|PMID:11875759|PMID:11918710|PMID:12938083|PMID:1336932|PMID:14518070|PMID:14711368|PMID:15211648|PMID:15805158|PMID:16199547|PMID:16773562|PMID:16952599|PMID:17392703|PMID:17526800|PMID:17873882|PMID:17941496|PMID:17942903|PMID:18558293|PMID:19265751|PMID:19340001|PMID:19457929|PMID:19458356|PMID:19829307|PMID:20300775|PMID:20301661|PMID:20600018|PMID:20712882|PMID:21190448|PMID:21194675|PMID:21343951|PMID:21659347|PMID:21822720|PMID:21828076|PMID:21956414|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22381246|PMID:22491738|PMID:22520842|PMID:22595938|PMID:23335809|PMID:23349303|PMID:23399955|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23695273|PMID:23886400|PMID:23934601|PMID:24052722|PMID:24345843|PMID:24375884|PMID:24778394|PMID:25288137|PMID:25326635|PMID:25429968|PMID:25527629|PMID:25549896|PMID:25669429|PMID:25741868|PMID:25756585|PMID:25875300|PMID:26376867|PMID:26418532|PMID:26467025|PMID:26492180|PMID:26579216|PMID:26612463|PMID:26773036|PMID:26798346|PMID:26845104|PMID:27324988|PMID:27426521|PMID:27477328|PMID:27514801|PMID:28013114|PMID:28086757|PMID:28263967|PMID:28286253|PMID:28475857|PMID:28492532|PMID:28526761|PMID:28677221|PMID:29273943|PMID:29359449|PMID:29373119|PMID:29663862|PMID:29706350|PMID:29752200|PMID:29785012|PMID:30287823|PMID:30311380|PMID:30374176|PMID:30528446|PMID:30614812|PMID:30793491|PMID:30978501|PMID:31130284|PMID:31220904|PMID:31232187|PMID:31336731|PMID:31427284|PMID:31594918|PMID:32123317|PMID:32162695|PMID:32196895|PMID:32238909|PMID:32350270|PMID:32442409|PMID:33077954|PMID:33208383|PMID:33600059|PMID:33876391|PMID:33887726|PMID:34492006|PMID:34625746|PMID:34793697|PMID:34906515|PMID:34958143|PMID:34974531|PMID:35227301|PMID:35241692|PMID:35534676|PMID:35723418|PMID:36175890|PMID:36988593|PMID:38645101|PMID:8071972|PMID:9140396|PMID:9241266|PMID:9259288|PMID:9399897|PMID:9467011|PMID:9735393|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:684 hepatocellular carcinoma ISO RGD:62287 D RGD:9068941 20220630 RGD PMID:29303510|REF_RGD_ID:152995524 8706988 Pten phosphatase and tensin homolog gene DOID:684 hepatocellular carcinoma ISO RGD:62287 D RGD:9068941 20220825 MouseDO OMIM:114550 8706988 Pten phosphatase and tensin homolog gene DOID:684 hepatocellular carcinoma ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27022031 8706988 Pten phosphatase and tensin homolog gene DOID:684 hepatocellular carcinoma ISO RGD:69119 D RGD:9068941 20210625 RGD associated with hepatitis B;protein:decreased expression:liver (human) PMID:30690477|REF_RGD_ID:127285603 8706988 Pten phosphatase and tensin homolog gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:69119 D RGD:9068941 20210625 RGD associated with hepatitis C, liver cirrhosis;protein:decreased expression:liver (human) PMID:12115563|REF_RGD_ID:127285610 8706988 Pten phosphatase and tensin homolog gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:69119 D RGD:9068941 20210625 RGD protein:decreased expression:liver (human) PMID:12673720|REF_RGD_ID:127285591 8706988 Pten phosphatase and tensin homolog gene DOID:684 hepatocellular carcinoma severity ISO RGD:69119 D RGD:9068941 20220630 RGD protein:decreased expression:liver (human) PMID:29303510|REF_RGD_ID:152995524 8706988 Pten phosphatase and tensin homolog gene DOID:684 hepatocellular carcinoma treatment ISO RGD:61995 D RGD:9068941 20220422 RGD PMID:31801250|REF_RGD_ID:151893509 8706988 Pten phosphatase and tensin homolog gene DOID:6846 familial melanoma ISO RGD:69119 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1 PMID:24033266|PMID:24055113|PMID:25741868|PMID:25980754|PMID:28492532|PMID:29706350|PMID:29785012|PMID:30311380|PMID:32350270|PMID:32885271|PMID:34793697|PMID:35931053|PMID:38645101 8706988 Pten phosphatase and tensin homolog gene DOID:76 stomach disease ISO RGD:61995 D RGD:9068941 20200609 RGD associated with Hypertension, Portal;protein:increased expression:stomach mucosa PMID:14525948|REF_RGD_ID:1581280 8706988 Pten phosphatase and tensin homolog gene DOID:8029 sporadic breast cancer ISO RGD:69119 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter: (human) PMID:15287024|REF_RGD_ID:12859037 8706988 Pten phosphatase and tensin homolog gene DOID:83 cataract ISO RGD:62287 D RGD:9068941 20200609 RGD PMID:24270425|REF_RGD_ID:12859033 8706988 Pten phosphatase and tensin homolog gene DOID:8541 Sezary's disease ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26551667 8706988 Pten phosphatase and tensin homolog gene DOID:8634 prostate carcinoma in situ ISO RGD:62287 D RGD:9068941 20200609 RGD PMID:18268330|REF_RGD_ID:2292497 8706988 Pten phosphatase and tensin homolog gene DOID:8634 prostate carcinoma in situ ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19081794|PMID:22581815 8706988 Pten phosphatase and tensin homolog gene DOID:8719 in situ carcinoma ISO RGD:69119 D RGD:9068941 20200609 RGD associated with Endometrial Neoplasms;protein:decreased expression:endometrium PMID:17349568|REF_RGD_ID:2289828 8706988 Pten phosphatase and tensin homolog gene DOID:874 bacterial pneumonia ameliorates ISO RGD:62287 D RGD:9068941 20210625 RGD myeloid knockout PMID:21527775|REF_RGD_ID:127285594 8706988 Pten phosphatase and tensin homolog gene DOID:8761 acute megakaryocytic leukemia ISO RGD:69119 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Acute megakaryoblastic leukemia PMID:10848731|PMID:10866302|PMID:16773562|PMID:17941496|PMID:20600018|PMID:21194675|PMID:21343951|PMID:21659347|PMID:22281088|PMID:22520842|PMID:23335809|PMID:23475934|PMID:23886400|PMID:24778394|PMID:25669429|PMID:25741868|PMID:26376867|PMID:28492532|PMID:29663862|PMID:35227301|PMID:9735393 8706988 Pten phosphatase and tensin homolog gene DOID:8805 intermediate coronary syndrome ISO RGD:69119 D RGD:9068941 20231026 RGD RNA:increased expression:serum PMID:32595526|REF_RGD_ID:401851053 8706988 Pten phosphatase and tensin homolog gene DOID:8923 skin melanoma ISO RGD:69119 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY | ClinVar Annotator: match by term: Malignant melanoma of skin PMID:10866302|PMID:11051241|PMID:11504908|PMID:11875759|PMID:11948419|PMID:16773562|PMID:17942903|PMID:18767981|PMID:1945792|PMID:19457929|PMID:20085938|PMID:20300775|PMID:20301661|PMID:20926450|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23335809|PMID:23361946|PMID:23399955|PMID:23470840|PMID:24033266|PMID:24055113|PMID:24292679|PMID:24778394|PMID:25157968|PMID:25527629|PMID:25741868|PMID:25980754|PMID:26418532|PMID:26619011|PMID:26798346|PMID:27477328|PMID:27535533|PMID:28475857|PMID:28492532|PMID:28677221|PMID:29359449|PMID:29706350|PMID:29785012|PMID:30311380|PMID:30528446|PMID:31159747|PMID:31636093|PMID:32350270|PMID:32442409|PMID:32832836|PMID:32885271|PMID:33077954|PMID:9467011|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:8923 skin melanoma ISO RGD:69119 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY PMID:24033266|PMID:24055113|PMID:25741868|PMID:25980754|PMID:28492532|PMID:29706350|PMID:29785012|PMID:30311380|PMID:32350270|PMID:32885271|PMID:34793697|PMID:35931053|PMID:38645101 8706988 Pten phosphatase and tensin homolog gene DOID:8947 diabetic retinopathy ISO RGD:61995 D RGD:9068941 20210219 RGD mRNA, protein:decreased expression:retina PMID:31759996|REF_RGD_ID:41410819 8706988 Pten phosphatase and tensin homolog gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:69119 D RGD:9068941 20200609 RGD protein:decreased expression:uterine cervix PMID:17672936|REF_RGD_ID:2298701 8706988 Pten phosphatase and tensin homolog gene DOID:9000039 Spinal Cord Injuries ISO RGD:61995 D RGD:9068941 20230216 RGD mRNA:increased expression:spinal cord: PMID:28601045|REF_RGD_ID:156420142 8706988 Pten phosphatase and tensin homolog gene DOID:9000040 Hypertrophy ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19211884 8706988 Pten phosphatase and tensin homolog gene DOID:9000081 Lymphatic Metastasis ISO RGD:69119 D RGD:9068941 20200609 RGD associated with Breast Neoplasms PMID:17919877|REF_RGD_ID:2292499 8706988 Pten phosphatase and tensin homolog gene DOID:9000081 Lymphatic Metastasis ISO RGD:69119 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms;protein:decreased expression:prostate PMID:17163422|REF_RGD_ID:2292507 8706988 Pten phosphatase and tensin homolog gene DOID:9000466 Prostate Cancer, Somatic ISO RGD:69119 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Prostate cancer, somatic PMID:9371490 8706988 Pten phosphatase and tensin homolog gene DOID:9000918 Disease Progression ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20729295 8706988 Pten phosphatase and tensin homolog gene DOID:9000965 Neoplasm Metastasis ISO RGD:62287 D RGD:9068941 20200609 RGD associated with Mammary Neoplasms, Experimental PMID:18381417|REF_RGD_ID:2292496 8706988 Pten phosphatase and tensin homolog gene DOID:9000965 Neoplasm Metastasis ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10978354 8706988 Pten phosphatase and tensin homolog gene DOID:9001527 Congenital Hypomyelinating Neuropathy ISO RGD:12181883 D RGD:9068941 20230921 OMIA Colorectal hamartomatous polyposis and ganglioneuromatosis PMID:20952721|PMID:37708475 8706988 Pten phosphatase and tensin homolog gene DOID:9002106 Pneumococcal Pneumonia ameliorates ISO RGD:62287 D RGD:9068941 20210625 RGD myeloid knockout PMID:20505137|REF_RGD_ID:127285597 8706988 Pten phosphatase and tensin homolog gene DOID:9002165 Diabetic Nephropathies ISO RGD:61995 D RGD:9068941 20200609 RGD protein:decreased expression:kidney cortex, glomerulus PMID:16804083|REF_RGD_ID:2292546 8706988 Pten phosphatase and tensin homolog gene DOID:9002304 Prostatic Neoplasms ISO RGD:62287 D RGD:9068941 20200609 RGD PMID:11175795|PMID:18268330|REF_RGD_ID:1302553|REF_RGD_ID:2292497 8706988 Pten phosphatase and tensin homolog gene DOID:9002304 Prostatic Neoplasms ISO RGD:69119 D RGD:9068941 20211210 CTD CTD Direct Evidence: marker/mechanism PMID:16421604|PMID:17173048|PMID:19081794|PMID:19396168|PMID:20729295|PMID:21456062|PMID:21714127|PMID:22581815|PMID:22610119|PMID:23248098|PMID:28319090|PMID:29295717|PMID:29335545|PMID:29610475|PMID:32525019|PMID:33129824|PMID:9371490 8706988 Pten phosphatase and tensin homolog gene DOID:9002304 Prostatic Neoplasms disease_progression ISO RGD:62287 D RGD:9068941 20200609 RGD PMID:11854455|REF_RGD_ID:2292510 8706988 Pten phosphatase and tensin homolog gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:69119 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology PMID:10400993|PMID:10848731|PMID:10920277|PMID:10923032|PMID:11332402|PMID:11918710|PMID:1336932|PMID:15211648|PMID:16773562|PMID:16952599|PMID:17286265|PMID:17526800|PMID:17873882|PMID:18558293|PMID:19340001|PMID:19458356|PMID:19829307|PMID:20301661|PMID:21194675|PMID:21956414|PMID:22266152|PMID:22381246|PMID:22491738|PMID:23335809|PMID:23349303|PMID:23470840|PMID:23475934|PMID:23764071|PMID:23934601|PMID:24033266|PMID:24345843|PMID:24778394|PMID:25288137|PMID:25741868|PMID:26467025|PMID:26773036|PMID:27426521|PMID:28286253|PMID:28492532|PMID:28526761|PMID:28655553|PMID:29594054|PMID:30528446|PMID:30614812|PMID:30659124|PMID:31336731|PMID:33083010|PMID:33372952|PMID:35227301|PMID:36988593|PMID:9140396|PMID:9241266|PMID:9259288|PMID:9399897|PMID:9467011|PMID:9856571 8706988 Pten phosphatase and tensin homolog gene DOID:9002762 Ovarian Neoplasms ISO RGD:69119 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms | ClinVar Annotator: match by term: Ovarian neoplasm PMID:10232405|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10555148|PMID:10749983|PMID:10848731|PMID:10866302|PMID:10920277|PMID:10923032|PMID:11051241|PMID:11274365|PMID:11332402|PMID:11504908|PMID:11685670|PMID:11748304|PMID:11875759|PMID:11918710|PMID:11948419|PMID:1336932|PMID:14518070|PMID:15016963|PMID:15211648|PMID:15254419|PMID:15647370|PMID:16014636|PMID:16773562|PMID:16894538|PMID:16952599|PMID:17286265|PMID:17392703|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17873882|PMID:17941496|PMID:17942903|PMID:18025323|PMID:18558293|PMID:18725974|PMID:18767981|PMID:19340001|PMID:19351834|PMID:19366826|PMID:1945792|PMID:19457929|PMID:19458356|PMID:19829307|PMID:19903786|PMID:20018398|PMID:20085938|PMID:20300775|PMID:20301661|PMID:20453058|PMID:20600018|PMID:20619739|PMID:20712882|PMID:20881644|PMID:20926450|PMID:21103832|PMID:21190448|PMID:21194675|PMID:21343951|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:21956414|PMID:22162582|PMID:22162589|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22381246|PMID:22479427|PMID:22491738|PMID:22503188|PMID:22520842|PMID:22595938|PMID:23117110|PMID:23335809|PMID:23349303|PMID:23399955|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23695273|PMID:23764071|PMID:23886400|PMID:23934601|PMID:24033266|PMID:24052722|PMID:24292679|PMID:24345843|PMID:24778394|PMID:25157968|PMID:25288137|PMID:25326635|PMID:25549896|PMID:25669429|PMID:25741868|PMID:25756585|PMID:26376867|PMID:26467025|PMID:26619011|PMID:26773036|PMID:26795104|PMID:26798346|PMID:27426521|PMID:27477328|PMID:27535533|PMID:27959697|PMID:28235761|PMID:28286253|PMID:28475857|PMID:28492532|PMID:28526761|PMID:28655553|PMID:28677221|PMID:28873162|PMID:29359449|PMID:29594054|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29785012|PMID:30287823|PMID:30528446|PMID:30614812|PMID:30659124|PMID:31336731|PMID:32238909|PMID:32350270|PMID:32378608|PMID:32442409|PMID:33077954|PMID:33083010|PMID:33372952|PMID:33600059|PMID:34308366|PMID:35227301|PMID:36988593|PMID:37090027|PMID:9140396|PMID:9241266|PMID:9259288|PMID:9399897|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9735393|PMID:9856571|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:9002762 Ovarian Neoplasms ISO RGD:69119 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms | ClinVar Annotator: match by term: Ovarian neoplasm PMID:10232405|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10749983|PMID:10848731|PMID:10866302|PMID:10920277|PMID:10923032|PMID:11332402|PMID:11685670|PMID:11748304|PMID:11875759|PMID:11918710|PMID:1336932|PMID:14518070|PMID:15211648|PMID:16014636|PMID:16773562|PMID:16894538|PMID:16952599|PMID:17286265|PMID:17392703|PMID:17526800|PMID:17576681|PMID:17873882|PMID:17941496|PMID:17942903|PMID:18025323|PMID:18558293|PMID:19340001|PMID:19457929|PMID:19458356|PMID:19829307|PMID:20300775|PMID:20301661|PMID:20600018|PMID:20712882|PMID:21103832|PMID:21190448|PMID:21194675|PMID:21343951|PMID:21659347|PMID:21822720|PMID:21828076|PMID:21956414|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22381246|PMID:22491738|PMID:22503188|PMID:22520842|PMID:22595938|PMID:23117110|PMID:23335809|PMID:23349303|PMID:23399955|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23695273|PMID:23764071|PMID:23886400|PMID:23934601|PMID:24033266|PMID:24052722|PMID:24345843|PMID:24778394|PMID:25288137|PMID:25326635|PMID:25549896|PMID:25669429|PMID:25741868|PMID:25756585|PMID:26376867|PMID:26467025|PMID:26773036|PMID:26795104|PMID:26798346|PMID:27426521|PMID:27477328|PMID:27535533|PMID:28235761|PMID:28286253|PMID:28475857|PMID:28492532|PMID:28526761|PMID:28655553|PMID:28677221|PMID:28873162|PMID:29152901|PMID:29359449|PMID:29594054|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29785012|PMID:30287823|PMID:30528446|PMID:30614812|PMID:30659124|PMID:31336731|PMID:32238909|PMID:32350270|PMID:32378608|PMID:32442409|PMID:33077954|PMID:33083010|PMID:33372952|PMID:33600059|PMID:34308366|PMID:35227301|PMID:36453251|PMID:36988593|PMID:37090027|PMID:9140396|PMID:9241266|PMID:9259288|PMID:9399897|PMID:9467011|PMID:9536098|PMID:9735393|PMID:9856571|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:9002775 Cognitive Dysfunction ISO RGD:69119 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Cognitive impairment PMID:16704655|PMID:19457929|PMID:20926450|PMID:21956414|PMID:24778394|PMID:25669429|PMID:25741868|PMID:26246517|PMID:27514801|PMID:28492532|PMID:28523199|PMID:29296277|PMID:29706350|PMID:29785012|PMID:32003824|PMID:37673932|PMID:9288766|PMID:9600246 8706988 Pten phosphatase and tensin homolog gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:69119 D RGD:9068941 20250116 RGD DNA:amplification PMID:17727244|REF_RGD_ID:2292501 8706988 Pten phosphatase and tensin homolog gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:69119 D RGD:9068941 20250116 RGD protein:decreased expression:uterine cervix PMID:17672936|REF_RGD_ID:2298701 8706988 Pten phosphatase and tensin homolog gene DOID:9003816 Macrocephaly ISO RGD:69119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macrocephaly PMID:10772390|PMID:21828076|PMID:25741868|PMID:28492532 8706988 Pten phosphatase and tensin homolog gene DOID:9003936 Cardiomegaly ISO RGD:61995 D RGD:9068941 20200609 RGD PMID:16188065|REF_RGD_ID:2292549 8706988 Pten phosphatase and tensin homolog gene DOID:9003936 Cardiomegaly ISO RGD:62287 D RGD:9068941 20200609 RGD PMID:11448956|REF_RGD_ID:1581282 8706988 Pten phosphatase and tensin homolog gene DOID:9004009 Reperfusion Injury ISO RGD:61995 D RGD:9068941 20200609 RGD PMID:17239858|REF_RGD_ID:2292538 8706988 Pten phosphatase and tensin homolog gene DOID:9004009 Reperfusion Injury ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19038262 8706988 Pten phosphatase and tensin homolog gene DOID:9004118 Experimental Melanoma ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29179997 8706988 Pten phosphatase and tensin homolog gene DOID:9004217 Nerve Sheath Neoplasms disease_progression ISO RGD:62287 D RGD:9068941 20200609 RGD PMID:22700876|REF_RGD_ID:12859040 8706988 Pten phosphatase and tensin homolog gene DOID:9004265 Endometrioid Carcinomas ISO RGD:69119 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity, mutations:multiple (human) PMID:11156411|REF_RGD_ID:12802357 8706988 Pten phosphatase and tensin homolog gene DOID:9004265 Endometrioid Carcinomas ISO RGD:69119 D RGD:9068941 20200609 RGD DNA:mutations: :multiple PMID:17418409|REF_RGD_ID:2289817 8706988 Pten phosphatase and tensin homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:69119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8706988 Pten phosphatase and tensin homolog gene DOID:9004464 Skin Neoplasms ISO RGD:62287 D RGD:9068941 20210625 RGD PMID:21771908|REF_RGD_ID:127285609 8706988 Pten phosphatase and tensin homolog gene DOID:9004547 Thyroid Neoplasms ISO RGD:69119 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity:cds: (human) PMID:10793080|REF_RGD_ID:12832747 8706988 Pten phosphatase and tensin homolog gene DOID:9004547 Thyroid Neoplasms severity ISO RGD:69119 D RGD:9068941 20200609 RGD mRNA:decreased expression:thyroid gland (human) PMID:12203792|REF_RGD_ID:12832749 8706988 Pten phosphatase and tensin homolog gene DOID:9004575 Neoplasm Invasiveness ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21994956 8706988 Pten phosphatase and tensin homolog gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:61995 D RGD:9068941 20200609 RGD PMID:15929827|REF_RGD_ID:1581281 8706988 Pten phosphatase and tensin homolog gene DOID:9004616 Left Ventricular Hypertrophy treatment ISO RGD:61995 D RGD:9068941 20200609 RGD associated with Arteriovenous Fistula PMID:22609523|REF_RGD_ID:12801498 8706988 Pten phosphatase and tensin homolog gene DOID:9004866 Ataxia ISO RGD:62287 D RGD:9068941 20200609 RGD PMID:11726926|REF_RGD_ID:1302554 8706988 Pten phosphatase and tensin homolog gene DOID:9005062 Prostate Cancer, Hereditary, 1 ISO RGD:69119 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Prostate cancer, hereditary, 1 PMID:10051160|PMID:12786840|PMID:16773562|PMID:17324556|PMID:17942903|PMID:18669439|PMID:19329485|PMID:20685300|PMID:21194675|PMID:21659347|PMID:23160955|PMID:25527629|PMID:25741868|PMID:27477328|PMID:28492532|PMID:29706350|PMID:29785012|PMID:30886105|PMID:31594918|PMID:32670512|PMID:33482532|PMID:34184188|PMID:9467011|PMID:9600246 8706988 Pten phosphatase and tensin homolog gene DOID:9005172 Lung Neoplasms ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17909629|PMID:27980214 8706988 Pten phosphatase and tensin homolog gene DOID:9005233 Experimental Mammary Neoplasms onset ISO RGD:62287 D RGD:9068941 20200609 RGD PMID:18381417|REF_RGD_ID:2292496 8706988 Pten phosphatase and tensin homolog gene DOID:9005369 Hepatomegaly ISO RGD:62287 D RGD:9068941 20200609 RGD PMID:15199412|REF_RGD_ID:1302555 8706988 Pten phosphatase and tensin homolog gene DOID:9005396 Intimal Hyperplasia ameliorates ISO RGD:69119 D RGD:9068941 20210625 RGD associated with Carotid Artery Injuries, human gene in a rat model PMID:15569824|REF_RGD_ID:127285607 8706988 Pten phosphatase and tensin homolog gene DOID:9005466 Language Development Disorders ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9286463 8706988 Pten phosphatase and tensin homolog gene DOID:9005539 Familial Prostate Cancer ISO RGD:69119 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hereditary Prostate Cancer PMID:12844284|PMID:12938083|PMID:17847000|PMID:21194675|PMID:21956414|PMID:23825907|PMID:24778394|PMID:25669429|PMID:25741868|PMID:25910213|PMID:26229595|PMID:26467025|PMID:28492532 8706988 Pten phosphatase and tensin homolog gene DOID:9005612 Endometrial Intraepithelial Neoplasia ISO RGD:69119 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Atypical endometrial hyperplasia 8706988 Pten phosphatase and tensin homolog gene DOID:9006494 Follicular Thyroid Cancer ISO RGD:69119 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: THYROID CANCER, NONMEDULLARY, 2 | ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 2 PMID:24033266|PMID:24055113|PMID:25741868|PMID:25980754|PMID:28492532|PMID:29706350|PMID:29785012|PMID:30311380|PMID:32350270|PMID:32885271|PMID:34793697|PMID:35931053|PMID:38645101 8706988 Pten phosphatase and tensin homolog gene DOID:9006534 Nervous System Malformations ISO RGD:69119 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:10232405|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10749983|PMID:10848731|PMID:11685670|PMID:11918710|PMID:14518070|PMID:17392703|PMID:18558293|PMID:20301661|PMID:21956414|PMID:22381246|PMID:22595938|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23695273|PMID:23934601|PMID:24052722|PMID:24778394|PMID:25326635|PMID:25549896|PMID:25669429|PMID:25741868|PMID:25756585|PMID:27477328|PMID:28492532|PMID:28526761|PMID:30287823|PMID:30614812|PMID:32238909|PMID:33077954|PMID:33600059|PMID:9399897|PMID:9467011 8706988 Pten phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10051603|PMID:10076877|PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10554022|PMID:10555148|PMID:10564676|PMID:10606430|PMID:10698513|PMID:10749983|PMID:10772390|PMID:10772829|PMID:10807691|PMID:10848731|PMID:10866302|PMID:10866658|PMID:10920277|PMID:10923032|PMID:1097835|PMID:10978354|PMID:11035045|PMID:11052475|PMID:11071384|PMID:11108659|PMID:11156408|PMID:11274365|PMID:11332402|PMID:11355302|PMID:11476841|PMID:11494117|PMID:11504908|PMID:11685670|PMID:11748304|PMID:11875759|PMID:11886535|PMID:11918710|PMID:11939587|PMID:12015762|PMID:12085208|PMID:12208743|PMID:12297295|PMID:12372056|PMID:12414663|PMID:12471211|PMID:12614768|PMID:12788938|PMID:12844284|PMID:12938083|PMID:14518070|PMID:14566704|PMID:14623110|PMID:14675182|PMID:14976311|PMID:15016963|PMID:15120218|PMID:15211648|PMID:15254419|PMID:15372512|PMID:15647370|PMID:15659546|PMID:15769473|PMID:15805158|PMID:15896465|PMID:15951562|PMID:15987703|PMID:16007494|PMID:16014636|PMID:16021145|PMID:16199547|PMID:16506206|PMID:16598737|PMID:16619501|PMID:16704655|PMID:16752378|PMID:16773562|PMID:16894538|PMID:16952599|PMID:17013611|PMID:17043057|PMID:17218260|PMID:17218261|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17427195|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17636424|PMID:17847000|PMID:17873882|PMID:17928923|PMID:17941496|PMID:17942903|PMID:17954274|PMID:18080326|PMID:18558293|PMID:18716620|PMID:18725974|PMID:18757403|PMID:18759867|PMID:18767981|PMID:18794879|PMID:19114656|PMID:19265751|PMID:19329485|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19457929|PMID:19458356|PMID:19604110|PMID:19622968|PMID:19719509|PMID:19829307|PMID:19903786|PMID:19956187|PMID:19968660|PMID:20018398|PMID:20049735|PMID:20085938|PMID:20186503|PMID:20194734|PMID:20223021|PMID:20300775|PMID:20395440|PMID:20453058|PMID:20533527|PMID:20538496|PMID:20600018|PMID:20619739|PMID:20685300|PMID:20712882|PMID:20718038|PMID:20862607|PMID:20881644|PMID:20926450|PMID:20940307|PMID:20962022|PMID:21103832|PMID:21138868|PMID:21194575|PMID:21194675|PMID:21291452|PMID:21343951|PMID:21417916|PMID:21532617|PMID:21536651|PMID:21659347|PMID:21822720|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22005521|PMID:22076652|PMID:22162582|PMID:22162589|PMID:22261759|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22375056|PMID:22381246|PMID:22469695|PMID:22479427|PMID:22491738|PMID:22503188|PMID:22520842|PMID:22536362|PMID:22558107|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22962422|PMID:23066114|PMID:23085752|PMID:23117110|PMID:23124040|PMID:23160955|PMID:23161105|PMID:23315997|PMID:23335809|PMID:23349303|PMID:23361946|PMID:2338203|PMID:23382303|PMID:23399955|PMID:23423780|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23695273|PMID:23757202|PMID:23764071|PMID:23825907|PMID:23886400|PMID:23930209|PMID:23934111|PMID:23934601|PMID:24004025|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24123798|PMID:24136893|PMID:24345843|PMID:24375884|PMID:24379037|PMID:24468202|PMID:24483290|PMID:24498881|PMID:24500884|PMID:24561254|PMID:24647592|PMID:24656772|PMID:24656806|PMID:24728327|PMID:24744697|PMID:24763289|PMID:24778394|PMID:24830819|PMID:24905788|PMID:25022750|PMID:25132236|PMID:25157968|PMID:25186627|PMID:25246819|PMID:25288137|PMID:25326635|PMID:25336918|PMID:25363760|PMID:25429968|PMID:25437057|PMID:25448481|PMID:25448482|PMID:25525159|PMID:25527629|PMID:25549896|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25851949|PMID:25875300|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26082588|PMID:26099045|PMID:26124082|PMID:26157835|PMID:26185318|PMID:26216063|PMID:26229595|PMID:26246517|PMID:26279303|PMID:26302980|PMID:26362251|PMID:26376867|PMID:26418532|PMID:26450531|PMID:26467025|PMID:26468640|PMID:26504226|PMID:26517354|PMID:26534844|PMID:26580448|PMID:26619011|PMID:26637798|PMID:26665196|PMID:26681312|PMID:26773036|PMID:26787237|PMID:26795104|PMID:26798346|PMID:26800850|PMID:26845104 8706988 Pten phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26848951|PMID:26898890|PMID:26919320|PMID:27087592|PMID:27157322|PMID:27426521|PMID:27428751|PMID:27477328|PMID:27481051|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27720647|PMID:27824329|PMID:27878467|PMID:27884173|PMID:27959697|PMID:27978560|PMID:28008555|PMID:28086757|PMID:28135145|PMID:28188106|PMID:28191890|PMID:28195393|PMID:28235761|PMID:28250423|PMID:28251007|PMID:28263302|PMID:28286253|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28523199|PMID:28526761|PMID:28600779|PMID:28655553|PMID:28677221|PMID:28724667|PMID:28755079|PMID:28774669|PMID:28873162|PMID:29043291|PMID:29048666|PMID:29273943|PMID:29282348|PMID:29296277|PMID:29359340|PMID:29359449|PMID:29371908|PMID:29444762|PMID:29510612|PMID:29533785|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29752200|PMID:29785012|PMID:29874181|PMID:29970488|PMID:30181857|PMID:30212499|PMID:30287823|PMID:30311369|PMID:30311380|PMID:30327747|PMID:30528446|PMID:30614812|PMID:30720243|PMID:30993208|PMID:31006514|PMID:31144778|PMID:31159747|PMID:31185301|PMID:31209962|PMID:31336731|PMID:31594918|PMID:32037394|PMID:32190315|PMID:32238909|PMID:32295079|PMID:32350270|PMID:32566746|PMID:33077954|PMID:33624935|PMID:7728760|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9288766|PMID:9326929|PMID:9399897|PMID:9425889|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9600246|PMID:9619835|PMID:9685848|PMID:9735393|PMID:9740666|PMID:9788441|PMID:9794233|PMID:9797362|PMID:9811831|PMID:9832031|PMID:9832032|PMID:9856571|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10051603|PMID:10076877|PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10554022|PMID:10555148|PMID:10564676|PMID:10698513|PMID:10749983|PMID:10772390|PMID:10807691|PMID:10848731|PMID:10866302|PMID:10866658|PMID:10920277|PMID:10923032|PMID:1097835|PMID:10978354|PMID:11035045|PMID:11071384|PMID:11108659|PMID:11156408|PMID:11274365|PMID:11332402|PMID:11355302|PMID:11476841|PMID:11494117|PMID:11504908|PMID:11685670|PMID:11748304|PMID:11875759|PMID:11886535|PMID:11918710|PMID:11939587|PMID:12015762|PMID:12085208|PMID:12208743|PMID:12297295|PMID:12372056|PMID:12414663|PMID:12471211|PMID:12614768|PMID:12788938|PMID:12844284|PMID:12938083|PMID:14518070|PMID:14566704|PMID:14623110|PMID:14675182|PMID:14976311|PMID:15016963|PMID:15120218|PMID:15211648|PMID:15254419|PMID:15372512|PMID:15647370|PMID:15659546|PMID:15769473|PMID:15805158|PMID:15896465|PMID:15951562|PMID:15987703|PMID:16007494|PMID:16014636|PMID:16021145|PMID:16199547|PMID:16506206|PMID:16598737|PMID:16704655|PMID:16752378|PMID:16773562|PMID:16894538|PMID:16952599|PMID:17013611|PMID:17043057|PMID:17218260|PMID:17218261|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17427195|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17636424|PMID:17847000|PMID:17873882|PMID:17928923|PMID:17941496|PMID:17942903|PMID:17954274|PMID:18080326|PMID:18558293|PMID:18716620|PMID:18725974|PMID:18757403|PMID:18759867|PMID:18767981|PMID:18794879|PMID:19114656|PMID:19265751|PMID:19329485|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19457929|PMID:19458356|PMID:19604110|PMID:19622968|PMID:19719509|PMID:19829307|PMID:19903786|PMID:19956187|PMID:19968660|PMID:20018398|PMID:20049735|PMID:20085938|PMID:20186503|PMID:20223021|PMID:20300775|PMID:20301661|PMID:20395440|PMID:20453058|PMID:20533527|PMID:20538496|PMID:20600018|PMID:20619739|PMID:20685300|PMID:20712882|PMID:20718038|PMID:20862607|PMID:20881644|PMID:20926450|PMID:20940307|PMID:20962022|PMID:21103832|PMID:21138868|PMID:21194675|PMID:21291452|PMID:21343951|PMID:21417916|PMID:21532617|PMID:21536651|PMID:21659347|PMID:21822720|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22005521|PMID:22076652|PMID:22162582|PMID:22162589|PMID:22261759|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22375056|PMID:22381246|PMID:22469695|PMID:22479427|PMID:22491738|PMID:22503188|PMID:22520842|PMID:22536362|PMID:22558107|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22962422|PMID:23066114|PMID:23085752|PMID:23117110|PMID:23124040|PMID:23160955|PMID:23161105|PMID:23315997|PMID:23335809|PMID:23349303|PMID:23361946|PMID:2338203|PMID:23382303|PMID:23399955|PMID:23423780|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23695273|PMID:23757202|PMID:23764071|PMID:23825907|PMID:23886400|PMID:23930209|PMID:23934111|PMID:23934601|PMID:24004025|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24123798|PMID:24136893|PMID:24345843|PMID:24375884|PMID:24379037|PMID:24468202|PMID:24483290|PMID:24498881|PMID:24500884|PMID:24561254|PMID:24647592|PMID:24656772|PMID:24656806|PMID:24728327|PMID:24744697|PMID:24763289|PMID:24778394|PMID:24830819|PMID:24905788|PMID:25022750|PMID:25132236|PMID:25157968|PMID:25186627|PMID:25246819|PMID:25288137|PMID:25326635|PMID:25336918|PMID:25363760|PMID:25429968|PMID:25437057|PMID:25448481|PMID:25448482|PMID:25525159|PMID:25527629|PMID:25549896|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25851949|PMID:25875300|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26082588|PMID:26099045|PMID:26124082|PMID:26157835|PMID:26185318|PMID:26229595|PMID:26246517|PMID:26279303|PMID:26302980|PMID:26376867|PMID:26418532|PMID:26450531|PMID:26467025|PMID:26468640|PMID:26504226|PMID:26517354|PMID:26534844|PMID:26580448|PMID:26619011|PMID:26637798|PMID:26665196|PMID:26681312|PMID:26773036|PMID:26787237|PMID:26795104|PMID:26798346|PMID:26800850|PMID:26845104|PMID:26848951|PMID:26898890|PMID:26919320|PMID:27087592|PMID:27157322|PMID:27426521|PMID:27428751 8706988 Pten phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10051603|PMID:10076877|PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10554022|PMID:10555148|PMID:10564676|PMID:10698513|PMID:10749983|PMID:10772390|PMID:10807691|PMID:10848731|PMID:10866302|PMID:10866658|PMID:10920277|PMID:10923032|PMID:1097835|PMID:10978354|PMID:11035045|PMID:11071384|PMID:11108659|PMID:11156408|PMID:11274365|PMID:11332402|PMID:11355302|PMID:11476841|PMID:11494117|PMID:11504908|PMID:11685670|PMID:11748304|PMID:11875759|PMID:11886535|PMID:11918710|PMID:11939587|PMID:12015762|PMID:12085208|PMID:12208743|PMID:12297295|PMID:12372056|PMID:12414663|PMID:12471211|PMID:12614768|PMID:12788938|PMID:12844284|PMID:12938083|PMID:14518070|PMID:14566704|PMID:14623110|PMID:14675182|PMID:14976311|PMID:15016963|PMID:15120218|PMID:15211648|PMID:15254419|PMID:15372512|PMID:15647370|PMID:15659546|PMID:15769473|PMID:15805158|PMID:15896465|PMID:15920539|PMID:15951562|PMID:15987703|PMID:16007494|PMID:16014636|PMID:16021145|PMID:16199547|PMID:16506206|PMID:16598737|PMID:16704655|PMID:16752378|PMID:16773562|PMID:16894538|PMID:16952599|PMID:17013611|PMID:17043057|PMID:17218260|PMID:17218261|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17427195|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17636424|PMID:17847000|PMID:17873882|PMID:17928923|PMID:17941496|PMID:17942903|PMID:17954274|PMID:18080326|PMID:18558293|PMID:18716620|PMID:18725974|PMID:18757403|PMID:18759867|PMID:18767981|PMID:18794879|PMID:19114656|PMID:19265751|PMID:19329485|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19457929|PMID:19458356|PMID:19604110|PMID:19622968|PMID:19719509|PMID:19829307|PMID:19903786|PMID:19956187|PMID:19968660|PMID:20018398|PMID:20049735|PMID:20085938|PMID:20186503|PMID:20223021|PMID:20300775|PMID:20301661|PMID:20395440|PMID:20453058|PMID:20533527|PMID:20538496|PMID:20600018|PMID:20619739|PMID:20685300|PMID:20712882|PMID:20718038|PMID:20862607|PMID:20881644|PMID:20926450|PMID:20940307|PMID:20962022|PMID:21103832|PMID:21138868|PMID:21194675|PMID:21291452|PMID:21343951|PMID:21417916|PMID:21532617|PMID:21536651|PMID:21659347|PMID:21822720|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22005521|PMID:22076652|PMID:22162582|PMID:22162589|PMID:22261759|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22375056|PMID:22381246|PMID:22469695|PMID:22479427|PMID:22491738|PMID:22503188|PMID:22520842|PMID:22536362|PMID:22558107|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22962422|PMID:23066114|PMID:23085752|PMID:23117110|PMID:23124040|PMID:23160955|PMID:23161105|PMID:23315997|PMID:23335809|PMID:23349303|PMID:23361946|PMID:2338203|PMID:23382303|PMID:23399955|PMID:23423780|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23695273|PMID:23757202|PMID:23764071|PMID:23825907|PMID:23886400|PMID:23930209|PMID:23934111|PMID:23934601|PMID:24004025|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24123798|PMID:24136893|PMID:24345843|PMID:24375884|PMID:24379037|PMID:24468202|PMID:24483290|PMID:24498881|PMID:24500884|PMID:24561254|PMID:24647592|PMID:24656772|PMID:24656806|PMID:24728327|PMID:24744697|PMID:24763289|PMID:24778394|PMID:24830819|PMID:24905788|PMID:25022750|PMID:25132236|PMID:25157968|PMID:25186627|PMID:25246819|PMID:25288137|PMID:25326635|PMID:25336918|PMID:25363760|PMID:25429968|PMID:25437057|PMID:25448481|PMID:25448482|PMID:25525159|PMID:25527629|PMID:25549896|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25851949|PMID:25875300|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26082588|PMID:26099045|PMID:26124082|PMID:26157835|PMID:26185318|PMID:26229595|PMID:26246517|PMID:26279303|PMID:26302980|PMID:26376867|PMID:26418532|PMID:26450531|PMID:26467025|PMID:26468640|PMID:26504226|PMID:26517354|PMID:26534844|PMID:26580448|PMID:26619011|PMID:26637798|PMID:26665196|PMID:26681312|PMID:26773036|PMID:26787237|PMID:26795104|PMID:26798346|PMID:26800850|PMID:26845104|PMID:26848951|PMID:26898890|PMID:26919320|PMID:27087592|PMID:27157322|PMID:27426521 8706988 Pten phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:27428751|PMID:27477328|PMID:27481051|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27720647|PMID:27824329|PMID:27878467|PMID:27884173|PMID:27959697|PMID:27978560|PMID:28008555|PMID:28086757|PMID:28135145|PMID:28188106|PMID:28191890|PMID:28195393|PMID:28235761|PMID:28250423|PMID:28251007|PMID:28263302|PMID:28286253|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28523199|PMID:28526761|PMID:28600779|PMID:28655553|PMID:28677221|PMID:28724667|PMID:28755079|PMID:28774669|PMID:28873162|PMID:29048666|PMID:29273943|PMID:29282348|PMID:29296277|PMID:29359340|PMID:29359449|PMID:29371908|PMID:29444762|PMID:29510612|PMID:29533785|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29752200|PMID:29785012|PMID:29874181|PMID:29970488|PMID:30181857|PMID:30212499|PMID:30287823|PMID:30311369|PMID:30311380|PMID:30327747|PMID:30528446|PMID:30614812|PMID:30720243|PMID:30993208|PMID:31006514|PMID:31144778|PMID:31159747|PMID:31209962|PMID:31336731|PMID:31594918|PMID:31871109|PMID:32037394|PMID:32162695|PMID:32185379|PMID:32190315|PMID:32234455|PMID:32238909|PMID:32295079|PMID:32350270|PMID:32566746|PMID:33077954|PMID:33372952|PMID:33471991|PMID:33600059|PMID:33624935|PMID:7728760|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9288766|PMID:9326929|PMID:9399897|PMID:9425889|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9600246|PMID:9619835|PMID:9685848|PMID:9735393|PMID:9740666|PMID:9788441|PMID:9794233|PMID:9797362|PMID:9811831|PMID:9832032|PMID:9856571|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10051603|PMID:10076877|PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10554022|PMID:10555148|PMID:10564676|PMID:10698513|PMID:10749983|PMID:10772390|PMID:10807691|PMID:10848731|PMID:10866302|PMID:10866658|PMID:10920277|PMID:10923032|PMID:1097835|PMID:10978354|PMID:11035045|PMID:11071384|PMID:11108659|PMID:11156408|PMID:11274365|PMID:11332402|PMID:11355302|PMID:11476841|PMID:11494117|PMID:11504908|PMID:11684570|PMID:11685670|PMID:11748304|PMID:11875759|PMID:11886535|PMID:11918710|PMID:11939587|PMID:12015762|PMID:12085208|PMID:12208743|PMID:12297295|PMID:12372056|PMID:12414663|PMID:12471211|PMID:12614768|PMID:12788938|PMID:12844284|PMID:12938083|PMID:14518070|PMID:14566704|PMID:14623110|PMID:14675182|PMID:14976311|PMID:15016963|PMID:15120218|PMID:15211648|PMID:15254419|PMID:15372512|PMID:15647370|PMID:15659546|PMID:15769473|PMID:15805158|PMID:15896465|PMID:15920539|PMID:15951562|PMID:15987703|PMID:16007494|PMID:16014636|PMID:16021145|PMID:16199547|PMID:16506206|PMID:16598737|PMID:16704655|PMID:16752378|PMID:16773562|PMID:16894538|PMID:16952599|PMID:17013611|PMID:17043057|PMID:17218260|PMID:17218261|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17427195|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17636424|PMID:17847000|PMID:17873882|PMID:17928923|PMID:17941496|PMID:17942903|PMID:17954274|PMID:18080326|PMID:18558293|PMID:18716620|PMID:18725974|PMID:18757403|PMID:18759867|PMID:18767981|PMID:18794879|PMID:19114656|PMID:19265751|PMID:19329485|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19457929|PMID:19458356|PMID:19604110|PMID:19622968|PMID:19719509|PMID:19829307|PMID:19903786|PMID:19956187|PMID:19968660|PMID:20018398|PMID:20049735|PMID:20085938|PMID:20186503|PMID:20223021|PMID:20300775|PMID:20301661|PMID:20395440|PMID:20453058|PMID:20533527|PMID:20538496|PMID:20600018|PMID:20619739|PMID:20685300|PMID:20712882|PMID:20718038|PMID:20862607|PMID:20881644|PMID:20926450|PMID:20940307|PMID:20962022|PMID:21103832|PMID:21138868|PMID:21194675|PMID:21291452|PMID:21343951|PMID:21417916|PMID:21532617|PMID:21536651|PMID:21659347|PMID:21822720|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22005521|PMID:22076652|PMID:22162582|PMID:22162589|PMID:22261759|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22375056|PMID:22381246|PMID:22469695|PMID:22479427|PMID:22491738|PMID:22503188|PMID:22520842|PMID:22536362|PMID:22558107|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22962422|PMID:23066114|PMID:23085752|PMID:23117110|PMID:23124040|PMID:23160955|PMID:23161105|PMID:23315997|PMID:23335809|PMID:23349303|PMID:23361946|PMID:2338203|PMID:23382303|PMID:23399955|PMID:23423780|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23695273|PMID:23757202|PMID:23764071|PMID:23825907|PMID:23886400|PMID:23930209|PMID:23934111|PMID:23934601|PMID:24004025|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24123798|PMID:24136893|PMID:24345843|PMID:24375884|PMID:24379037|PMID:24468202|PMID:24483290|PMID:24498881|PMID:24500884|PMID:24561254|PMID:24647592|PMID:24656772|PMID:24656806|PMID:24728327|PMID:24744697|PMID:24763289|PMID:24766807|PMID:24778394|PMID:24830819|PMID:24905788|PMID:25022750|PMID:25132236|PMID:25157968|PMID:25186627|PMID:25246819|PMID:25288137|PMID:25326635|PMID:25336918|PMID:25363760|PMID:25429968|PMID:25437057|PMID:25448481|PMID:25448482|PMID:25525159|PMID:25527629|PMID:25549896|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25851949|PMID:25875300|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26082588|PMID:26099045|PMID:26124082|PMID:26157835|PMID:26185318|PMID:26229595|PMID:26246517|PMID:26279303|PMID:26302980|PMID:26376867|PMID:26418532|PMID:26450531|PMID:26467025|PMID:26468640|PMID:26504226|PMID:26517354|PMID:26534844|PMID:26580448|PMID:26619011|PMID:26637798|PMID:26665196|PMID:26681312|PMID:26773036|PMID:26787237|PMID:26795104|PMID:26798346|PMID:26800850|PMID:26845104|PMID:26848951|PMID:26898890|PMID:26919320|PMID:27087592 8706988 Pten phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:27157322|PMID:27426521|PMID:27428751|PMID:27477328|PMID:27481051|PMID:27489861|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27720647|PMID:27824329|PMID:27878467|PMID:27884173|PMID:27959697|PMID:27978560|PMID:28008555|PMID:28086757|PMID:28135145|PMID:28188106|PMID:28191890|PMID:28195393|PMID:28235761|PMID:28250423|PMID:28251007|PMID:28263302|PMID:28286253|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28523199|PMID:28526761|PMID:28600779|PMID:28655553|PMID:28677221|PMID:28724667|PMID:28755079|PMID:28774669|PMID:28873162|PMID:29048666|PMID:29273943|PMID:29282348|PMID:29296277|PMID:29359340|PMID:29359449|PMID:29371908|PMID:29444762|PMID:29510612|PMID:29533785|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29752200|PMID:29785012|PMID:29806868|PMID:29874181|PMID:29970488|PMID:30181857|PMID:30212499|PMID:30287823|PMID:30311369|PMID:30311380|PMID:30327747|PMID:30528446|PMID:30614812|PMID:30720243|PMID:30993208|PMID:31006514|PMID:31144778|PMID:31159747|PMID:31209962|PMID:31336731|PMID:31594918|PMID:31871109|PMID:32037394|PMID:32162695|PMID:32185379|PMID:32190315|PMID:32234455|PMID:32238909|PMID:32295079|PMID:32350270|PMID:32566746|PMID:33077954|PMID:33372952|PMID:33471991|PMID:33600059|PMID:33624935|PMID:7728760|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9288766|PMID:9326929|PMID:9399897|PMID:9425889|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9600246|PMID:9619835|PMID:9685848|PMID:9735393|PMID:9740666|PMID:9788441|PMID:9794233|PMID:9797362|PMID:9811831|PMID:9832032|PMID:9856571|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10051603|PMID:10076877|PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10554022|PMID:10555148|PMID:10564676|PMID:10698513|PMID:10749983|PMID:10772390|PMID:10807691|PMID:10848731|PMID:10866302|PMID:10866658|PMID:10920277|PMID:10923032|PMID:1097835|PMID:10978354|PMID:11035045|PMID:11071384|PMID:11108659|PMID:11156408|PMID:11274365|PMID:11332402|PMID:11476841|PMID:11494117|PMID:11504908|PMID:11684570|PMID:11685670|PMID:11748304|PMID:11875759|PMID:11886535|PMID:11918710|PMID:11939587|PMID:12015762|PMID:12085208|PMID:12208743|PMID:12297295|PMID:12372056|PMID:12414663|PMID:12471211|PMID:12614768|PMID:12786840|PMID:12788938|PMID:12844284|PMID:12938083|PMID:14518070|PMID:14566704|PMID:14569134|PMID:14623110|PMID:14675182|PMID:14976311|PMID:15016963|PMID:15069681|PMID:15120218|PMID:15211648|PMID:15254419|PMID:15372512|PMID:15647370|PMID:15659546|PMID:15769473|PMID:15805158|PMID:15896465|PMID:15920539|PMID:15951562|PMID:15987703|PMID:16007494|PMID:16014636|PMID:16021145|PMID:16199547|PMID:16506206|PMID:16598737|PMID:16704655|PMID:16752378|PMID:16773562|PMID:16894538|PMID:16952599|PMID:17013611|PMID:17043057|PMID:17218260|PMID:17218261|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17427195|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17636424|PMID:17847000|PMID:17873119|PMID:17873882|PMID:17898811|PMID:17928923|PMID:17941496|PMID:17942903|PMID:17954274|PMID:18080326|PMID:18558293|PMID:18669439|PMID:18716620|PMID:18725974|PMID:18757403|PMID:18759867|PMID:18767981|PMID:18781614|PMID:18794879|PMID:18986487|PMID:19114656|PMID:19265751|PMID:19329485|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19457929|PMID:19458356|PMID:19604110|PMID:19622968|PMID:19719509|PMID:19829307|PMID:19903786|PMID:19956187|PMID:19968660|PMID:20018398|PMID:20049735|PMID:20085938|PMID:20186503|PMID:20223021|PMID:20300775|PMID:20301661|PMID:20395440|PMID:20453058|PMID:20533527|PMID:20538496|PMID:20600018|PMID:20619739|PMID:20685300|PMID:20712882|PMID:20718038|PMID:20785012|PMID:20862607|PMID:20881644|PMID:20926450|PMID:20940307|PMID:20962022|PMID:21103832|PMID:21138868|PMID:21194675|PMID:21291452|PMID:21333374|PMID:21343951|PMID:21417916|PMID:21532617|PMID:21536651|PMID:21633361|PMID:21659347|PMID:21822720|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22005521|PMID:22076652|PMID:22162582|PMID:22162589|PMID:22171747|PMID:22261759|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22375056|PMID:22381246|PMID:22413754|PMID:22469695|PMID:22479427|PMID:22491738|PMID:22503188|PMID:22505997|PMID:22520842|PMID:22536362|PMID:22558107|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22911484|PMID:22962422|PMID:22970944|PMID:23066114|PMID:23085752|PMID:23117110|PMID:23124040|PMID:23160955|PMID:23161105|PMID:23315997|PMID:23335809|PMID:23349303|PMID:23361946|PMID:2338203|PMID:23382303|PMID:23399955|PMID:23423780|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23633456|PMID:23695273|PMID:23757202|PMID:23764071|PMID:23825907|PMID:23886400|PMID:23930209|PMID:23934111|PMID:23934601|PMID:24004025|PMID:24022303|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24123798|PMID:24136893|PMID:24345843|PMID:24375884|PMID:24379037|PMID:24404930|PMID:24468202|PMID:24483290|PMID:24498881|PMID:24500884|PMID:24561254|PMID:24647592|PMID:24656772|PMID:24656806|PMID:24721394|PMID:24728327|PMID:24744697|PMID:24763289|PMID:24766807|PMID:24778394|PMID:24809327|PMID:24830819|PMID:24905788|PMID:25022750|PMID:25132236|PMID:25157968|PMID:25186627|PMID:25246819|PMID:25288137|PMID:25326635|PMID:25336918|PMID:25363760|PMID:25429968|PMID:25437057|PMID:25448481|PMID:25448482|PMID:25495427|PMID:25525159|PMID:25527629|PMID:25549896|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25851949|PMID:25875300|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26082588|PMID:26099045|PMID:26124082|PMID:26157835|PMID:26185318|PMID:26229595|PMID:26246517|PMID:26279303|PMID:26302980|PMID:26376867|PMID:26418532 8706988 Pten phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:26450531|PMID:26467025|PMID:26468640|PMID:26492180|PMID:26504226|PMID:26517354|PMID:26534844|PMID:26579216|PMID:26580448|PMID:26619011|PMID:26637798|PMID:26665196|PMID:26681312|PMID:26773036|PMID:26787237|PMID:26795104|PMID:26798346|PMID:26800850|PMID:26845104|PMID:26848951|PMID:26898890|PMID:26919320|PMID:27087592|PMID:27157322|PMID:27221918|PMID:27324988|PMID:27426521|PMID:27428751|PMID:27477328|PMID:27481051|PMID:27489861|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27720647|PMID:27824329|PMID:27878467|PMID:27884173|PMID:27959697|PMID:27978560|PMID:28008555|PMID:28013114|PMID:28086757|PMID:28135145|PMID:28152038|PMID:28188106|PMID:28191890|PMID:28195393|PMID:28235761|PMID:28250423|PMID:28251007|PMID:28263302|PMID:28263967|PMID:28286253|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28513612|PMID:28523199|PMID:28526761|PMID:28600779|PMID:28655553|PMID:28677221|PMID:28724667|PMID:28755079|PMID:28758351|PMID:28774669|PMID:28821194|PMID:28873162|PMID:29033429|PMID:29043291|PMID:29048666|PMID:29095814|PMID:29273943|PMID:29282348|PMID:29296277|PMID:29359340|PMID:29359449|PMID:29371908|PMID:29373119|PMID:29444762|PMID:29510612|PMID:29533785|PMID:29594054|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29752200|PMID:29785012|PMID:29806868|PMID:29874181|PMID:29927861|PMID:29970488|PMID:30181857|PMID:30212499|PMID:30287823|PMID:30311369|PMID:30311380|PMID:30327747|PMID:30443844|PMID:30482242|PMID:30528446|PMID:30614812|PMID:30659124|PMID:30720243|PMID:30809968|PMID:30993208|PMID:31006514|PMID:31079897|PMID:31144778|PMID:31149344|PMID:31159747|PMID:31209962|PMID:31332282|PMID:31336731|PMID:31594918|PMID:31871109|PMID:32037394|PMID:32150788|PMID:32162695|PMID:32185379|PMID:32190315|PMID:32234455|PMID:32238909|PMID:32295079|PMID:32350270|PMID:32366478|PMID:32442409|PMID:32461654|PMID:32566746|PMID:32664367|PMID:32832836|PMID:32959437|PMID:33077954|PMID:33083010|PMID:33088792|PMID:33152507|PMID:33372952|PMID:33471991|PMID:33482532|PMID:33600059|PMID:33624935|PMID:33876391|PMID:33887726|PMID:34625746|PMID:35227301|PMID:7728760|PMID:8071972|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9288766|PMID:9326929|PMID:9356475|PMID:9399897|PMID:9425889|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9600246|PMID:9619835|PMID:9685848|PMID:9735393|PMID:9740666|PMID:9788441|PMID:9794233|PMID:9797362|PMID:9811831|PMID:9832031|PMID:9832032|PMID:9856571|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10051603|PMID:10076877|PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10554022|PMID:10555148|PMID:10564676|PMID:10606430|PMID:10657643|PMID:10698513|PMID:10698713|PMID:10749983|PMID:10772390|PMID:10807691|PMID:10848731|PMID:10866302|PMID:10866658|PMID:10920277|PMID:10923032|PMID:1097835|PMID:10978354|PMID:11035045|PMID:11052475|PMID:11071384|PMID:11156408|PMID:11234884|PMID:11274365|PMID:11332402|PMID:11476841|PMID:11494117|PMID:11504908|PMID:11668501|PMID:11685670|PMID:11748304|PMID:11875759|PMID:11886535|PMID:11918710|PMID:11939587|PMID:12015762|PMID:12075083|PMID:12085208|PMID:12208743|PMID:12297295|PMID:12372056|PMID:12414663|PMID:12471211|PMID:12614768|PMID:12786840|PMID:12788938|PMID:12844284|PMID:12938083|PMID:14518070|PMID:14566704|PMID:14569134|PMID:14623110|PMID:14675182|PMID:14976311|PMID:15016963|PMID:15069681|PMID:15120218|PMID:15211648|PMID:15254419|PMID:15372512|PMID:15647370|PMID:15659546|PMID:15769473|PMID:15805158|PMID:15896465|PMID:15920539|PMID:15951562|PMID:15987703|PMID:16007494|PMID:16014636|PMID:16021145|PMID:16199547|PMID:16506206|PMID:16704655|PMID:16752378|PMID:16773562|PMID:16894538|PMID:16952599|PMID:17013611|PMID:17043057|PMID:17218260|PMID:17218261|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17427195|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17636424|PMID:17847000|PMID:17873119|PMID:17873882|PMID:17898811|PMID:17928923|PMID:17941496|PMID:17942903|PMID:17954274|PMID:18080326|PMID:18558293|PMID:18669439|PMID:18716620|PMID:18725974|PMID:18757403|PMID:18759867|PMID:18767981|PMID:18781614|PMID:18794879|PMID:18986487|PMID:19000654|PMID:19114656|PMID:19265751|PMID:19329485|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19457929|PMID:19458356|PMID:19604110|PMID:19622968|PMID:19719509|PMID:19829307|PMID:19903786|PMID:19956187|PMID:19968660|PMID:20018398|PMID:20049735|PMID:20085938|PMID:20100827|PMID:20186503|PMID:20194734|PMID:20223021|PMID:20300775|PMID:20301661|PMID:20453058|PMID:20533527|PMID:20538496|PMID:20600018|PMID:20619739|PMID:20685300|PMID:20712882|PMID:20718038|PMID:20785012|PMID:20862607|PMID:20881644|PMID:20926450|PMID:20940307|PMID:20962022|PMID:21103832|PMID:21138868|PMID:21194675|PMID:21291452|PMID:21333374|PMID:21343951|PMID:21417916|PMID:21532617|PMID:21536651|PMID:21633361|PMID:21659347|PMID:21822720|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22005521|PMID:22076652|PMID:22162582|PMID:22162589|PMID:22171747|PMID:22261759|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22371648|PMID:22375056|PMID:22381246|PMID:22413754|PMID:22469695|PMID:22479427|PMID:22491738|PMID:22503188|PMID:22505997|PMID:22520842|PMID:22536362|PMID:22558107|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22911484|PMID:22962422|PMID:22970944|PMID:23066114|PMID:23085752|PMID:23117110|PMID:23124040|PMID:23160955|PMID:23161105|PMID:23315997|PMID:23335809|PMID:23349303|PMID:23361946|PMID:2338203|PMID:23382303|PMID:23399955|PMID:23423780|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23633456|PMID:23695273|PMID:23757202|PMID:23764071|PMID:23825907|PMID:23886400|PMID:23930209|PMID:23934111|PMID:23934601|PMID:24022303|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24123798|PMID:24136893|PMID:24345843|PMID:24375884|PMID:24379037|PMID:24404930|PMID:24468202|PMID:24483290|PMID:24498881|PMID:24500884|PMID:24561254|PMID:24647592|PMID:24656772|PMID:24656806|PMID:24721394|PMID:24728327|PMID:24744697|PMID:24763289|PMID:24766807|PMID:24778394|PMID:24809327|PMID:24830819|PMID:24905788|PMID:25022750|PMID:25132236|PMID:25157968|PMID:25186627|PMID:25246819|PMID:25288137|PMID:25326635|PMID:25336918|PMID:25363760|PMID:25429968|PMID:25437057|PMID:25448481|PMID:25448482|PMID:25495427|PMID:25525159|PMID:25527629|PMID:25549896|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25851949|PMID:25875300|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26082588|PMID:26099045|PMID:26124082|PMID:26157835|PMID:26185318 8706988 Pten phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26216063|PMID:26229595|PMID:26246517|PMID:26279303|PMID:26302980|PMID:26376867|PMID:26418532|PMID:26450531|PMID:26467025|PMID:26468640|PMID:26492180|PMID:26504226|PMID:26517354|PMID:26534844|PMID:26579216|PMID:26580448|PMID:26619011|PMID:26637798|PMID:26665196|PMID:26681312|PMID:26773036|PMID:26787237|PMID:26795104|PMID:26798346|PMID:26800850|PMID:26845104|PMID:26848951|PMID:26898890|PMID:26919320|PMID:27087592|PMID:27157322|PMID:27221918|PMID:27324988|PMID:27426521|PMID:27428751|PMID:27477328|PMID:27481051|PMID:27489861|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27568332|PMID:27720647|PMID:27824329|PMID:27878467|PMID:27884173|PMID:27959697|PMID:27978560|PMID:28008555|PMID:28013114|PMID:28086757|PMID:28135145|PMID:28152038|PMID:28188106|PMID:28191890|PMID:28195393|PMID:28235761|PMID:28250423|PMID:28251007|PMID:28263302|PMID:28263967|PMID:28286253|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28497778|PMID:28513612|PMID:28523199|PMID:28526761|PMID:28600779|PMID:28655553|PMID:28677221|PMID:28724667|PMID:28755079|PMID:28758351|PMID:28774669|PMID:28821194|PMID:28873162|PMID:29033429|PMID:29043291|PMID:29048666|PMID:29095814|PMID:29273943|PMID:29282348|PMID:29296277|PMID:29359340|PMID:29359449|PMID:29371908|PMID:29373119|PMID:29444762|PMID:29496690|PMID:29510612|PMID:29533785|PMID:29594054|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29752200|PMID:29785012|PMID:29806868|PMID:29874181|PMID:29927861|PMID:29931205|PMID:29970488|PMID:30181857|PMID:30212499|PMID:30287823|PMID:30311369|PMID:30311380|PMID:30327747|PMID:30443844|PMID:30482242|PMID:30528446|PMID:30614812|PMID:30659124|PMID:30720243|PMID:30809968|PMID:30993208|PMID:31006514|PMID:31079897|PMID:31144778|PMID:31149344|PMID:31159747|PMID:31185301|PMID:31209962|PMID:31332282|PMID:31336731|PMID:31594918|PMID:31664961|PMID:31871109|PMID:32003824|PMID:32037394|PMID:32150788|PMID:32162695|PMID:32185379|PMID:32190315|PMID:32234455|PMID:32238909|PMID:32295079|PMID:32350270|PMID:32366478|PMID:32442409|PMID:32461654|PMID:32566746|PMID:32664367|PMID:32832836|PMID:32959437|PMID:33077954|PMID:33083010|PMID:33088792|PMID:33152507|PMID:33208383|PMID:33372952|PMID:33471991|PMID:33482532|PMID:33600059|PMID:33624935|PMID:33767182|PMID:33801456|PMID:33876391|PMID:33887726|PMID:34184188|PMID:34268892|PMID:34308366|PMID:34492006|PMID:34625746|PMID:35227301|PMID:7728760|PMID:8071972|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9288766|PMID:9326929|PMID:9356475|PMID:9399897|PMID:9425889|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9600246|PMID:9619835|PMID:9685848|PMID:9735393|PMID:9740666|PMID:9788441|PMID:9794233|PMID:9797362|PMID:9811831|PMID:9823298|PMID:9832031|PMID:9832032|PMID:9856571|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10051603|PMID:10076877|PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10554022|PMID:10555148|PMID:10564676|PMID:10606430|PMID:10657643|PMID:10698513|PMID:10698713|PMID:10749983|PMID:10772390|PMID:10807691|PMID:10848731|PMID:10866302|PMID:10866658|PMID:10920277|PMID:10923032|PMID:1097835|PMID:10978354|PMID:11035045|PMID:11052475|PMID:11071384|PMID:11156408|PMID:11234884|PMID:11238682|PMID:11274365|PMID:11332402|PMID:11476841|PMID:11494117|PMID:11504908|PMID:11668501|PMID:11685670|PMID:11748304|PMID:11875759|PMID:11886535|PMID:11918710|PMID:12015762|PMID:12075083|PMID:12085208|PMID:12208743|PMID:12297295|PMID:12372056|PMID:12414663|PMID:12471211|PMID:12614768|PMID:12786840|PMID:12788938|PMID:12808147|PMID:12844284|PMID:12938083|PMID:1336932|PMID:14518070|PMID:14566704|PMID:14569134|PMID:14623110|PMID:14675182|PMID:14976311|PMID:15016963|PMID:15069681|PMID:15120218|PMID:15211648|PMID:15254419|PMID:15372512|PMID:15647370|PMID:15659546|PMID:15769473|PMID:15805158|PMID:15896465|PMID:15920539|PMID:15951562|PMID:15987703|PMID:16007494|PMID:16014636|PMID:16021145|PMID:16199547|PMID:16506206|PMID:16704655|PMID:16752378|PMID:16773562|PMID:16894538|PMID:16952599|PMID:17013611|PMID:17043057|PMID:17218260|PMID:17218261|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17427195|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17636424|PMID:17847000|PMID:17873119|PMID:17873882|PMID:17898811|PMID:17928923|PMID:17941496|PMID:17942903|PMID:17954274|PMID:18025323|PMID:18080326|PMID:18558293|PMID:18669439|PMID:18716620|PMID:18725974|PMID:18757403|PMID:18759867|PMID:18767981|PMID:18781614|PMID:18794879|PMID:18986487|PMID:19000654|PMID:19114656|PMID:19265751|PMID:19329485|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19457929|PMID:19458356|PMID:19604110|PMID:19622968|PMID:19719509|PMID:19829307|PMID:19903786|PMID:19956187|PMID:19968660|PMID:20018398|PMID:20049735|PMID:20085938|PMID:20100827|PMID:20186503|PMID:20194734|PMID:20223021|PMID:20300775|PMID:20301661|PMID:20453058|PMID:20533527|PMID:20538496|PMID:20600018|PMID:20619739|PMID:20685300|PMID:20712882|PMID:20718038|PMID:20785012|PMID:20862607|PMID:20881644|PMID:20926450|PMID:20940307|PMID:20962022|PMID:21103832|PMID:21138868|PMID:21194675|PMID:21291452|PMID:21333374|PMID:21343951|PMID:21417916|PMID:21532617|PMID:21536651|PMID:21633361|PMID:21659347|PMID:21822720|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22005521|PMID:22076652|PMID:22162582|PMID:22162589|PMID:22171747|PMID:22261759|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22371648|PMID:22375056|PMID:22381246|PMID:22413754|PMID:22469695|PMID:22479427|PMID:22491738|PMID:22503188|PMID:22505997|PMID:22520842|PMID:22536362|PMID:22558107|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22911484|PMID:22962422|PMID:22970944|PMID:23066114|PMID:23085752|PMID:23117110|PMID:23124040|PMID:23160955|PMID:23161105|PMID:23315997|PMID:23335809|PMID:23349303|PMID:23361946|PMID:2338203|PMID:23382303|PMID:23399955|PMID:23423780|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23633456|PMID:23695273|PMID:23757202|PMID:23764071|PMID:23825907|PMID:23886400|PMID:23930209|PMID:23934111|PMID:23934601|PMID:24022303|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24123798|PMID:24136893|PMID:24345843|PMID:24375884|PMID:24379037|PMID:24404930|PMID:24468202|PMID:24483290|PMID:24498881|PMID:24500884|PMID:24561254|PMID:24647592|PMID:24656772|PMID:24656806|PMID:24721394|PMID:24728327|PMID:24744697|PMID:24763289|PMID:24766807|PMID:24778394|PMID:24809327|PMID:24830819|PMID:24905788|PMID:25132236|PMID:25157968|PMID:25186627|PMID:25246819|PMID:25288137|PMID:25326635|PMID:25336918|PMID:25363760|PMID:25429968|PMID:25437057|PMID:25448478|PMID:25448481|PMID:25448482|PMID:25495427|PMID:25525159|PMID:25527629|PMID:25549896|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25851949|PMID:25875300|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26082588|PMID:26099045|PMID:26124082 8706988 Pten phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26157835|PMID:26185318|PMID:26216063|PMID:26229595|PMID:26246517|PMID:26279303|PMID:26302980|PMID:26376867|PMID:26418532|PMID:26450531|PMID:26467025|PMID:26468640|PMID:26492180|PMID:26504226|PMID:26517354|PMID:26534844|PMID:26579216|PMID:26580448|PMID:26619011|PMID:26633542|PMID:26637798|PMID:26665196|PMID:26681312|PMID:26773036|PMID:26787237|PMID:26795104|PMID:26798346|PMID:26800850|PMID:26845104|PMID:26848951|PMID:26898890|PMID:26919320|PMID:27087592|PMID:27157322|PMID:27221918|PMID:27324988|PMID:27426521|PMID:27428751|PMID:27477328|PMID:27481051|PMID:27489861|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27568332|PMID:27720647|PMID:27824329|PMID:27878467|PMID:27884173|PMID:27959697|PMID:27978560|PMID:28008555|PMID:28013114|PMID:28086757|PMID:28135145|PMID:28152038|PMID:28188106|PMID:28191890|PMID:28195393|PMID:28235761|PMID:28250423|PMID:28251007|PMID:28263302|PMID:28263967|PMID:28286253|PMID:28340209|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28497778|PMID:28513612|PMID:28523199|PMID:28526761|PMID:28600779|PMID:28655553|PMID:28677221|PMID:28724667|PMID:28755079|PMID:28758351|PMID:28774669|PMID:28821194|PMID:28873162|PMID:29033429|PMID:29043291|PMID:29048666|PMID:29095814|PMID:29273943|PMID:29282348|PMID:29296277|PMID:29359340|PMID:29359449|PMID:29371908|PMID:29373119|PMID:29444762|PMID:29496690|PMID:29510612|PMID:29533785|PMID:29594054|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29752200|PMID:29758562|PMID:29785012|PMID:29806868|PMID:29874181|PMID:29927861|PMID:29931205|PMID:29970488|PMID:30181857|PMID:30212499|PMID:30287823|PMID:30311369|PMID:30311380|PMID:30327747|PMID:30374176|PMID:30443844|PMID:30482242|PMID:30528446|PMID:30614812|PMID:30659124|PMID:30720243|PMID:30809968|PMID:30993208|PMID:31006514|PMID:31079897|PMID:31144778|PMID:31149344|PMID:31159747|PMID:31185301|PMID:31209962|PMID:31332282|PMID:31336731|PMID:31594918|PMID:31664961|PMID:31871109|PMID:32003824|PMID:32037394|PMID:32123317|PMID:32150788|PMID:32162695|PMID:32185379|PMID:32190315|PMID:32234455|PMID:32238909|PMID:32295079|PMID:32350270|PMID:32366478|PMID:32442409|PMID:32461654|PMID:32566746|PMID:32664367|PMID:32832836|PMID:32885271|PMID:32959437|PMID:33077954|PMID:33083010|PMID:33088792|PMID:33152507|PMID:33208383|PMID:33372952|PMID:33471991|PMID:33482532|PMID:33600059|PMID:33624935|PMID:33723755|PMID:33767182|PMID:33801456|PMID:33876391|PMID:33887726|PMID:34184188|PMID:34268892|PMID:34308366|PMID:34386506|PMID:34492006|PMID:34625746|PMID:35227301|PMID:35241692|PMID:36681873|PMID:36988593|PMID:37336910|PMID:7728760|PMID:8071972|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9288766|PMID:9326929|PMID:9356475|PMID:9399897|PMID:9425889|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9600246|PMID:9619835|PMID:9685848|PMID:9735393|PMID:9740666|PMID:9788441|PMID:9794233|PMID:9797362|PMID:9811831|PMID:9823298|PMID:9832031|PMID:9832032|PMID:9856571|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10051603|PMID:10076877|PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10554022|PMID:10555148|PMID:10564676|PMID:10606430|PMID:10657643|PMID:10698513|PMID:10698713|PMID:10749983|PMID:10772390|PMID:10807691|PMID:10848731|PMID:10866302|PMID:10866658|PMID:10920277|PMID:10923032|PMID:1097835|PMID:10978354|PMID:11035045|PMID:11052475|PMID:11071384|PMID:11156408|PMID:11234884|PMID:11238682|PMID:11274365|PMID:11332402|PMID:11476841|PMID:11494117|PMID:11504908|PMID:11668501|PMID:11685670|PMID:11748304|PMID:11875759|PMID:11886535|PMID:11918710|PMID:12015762|PMID:12075083|PMID:12085208|PMID:12208743|PMID:12297295|PMID:12372056|PMID:12414663|PMID:12471211|PMID:12614768|PMID:12786840|PMID:12788938|PMID:12808147|PMID:12844284|PMID:12938083|PMID:1336932|PMID:14518070|PMID:14566704|PMID:14569134|PMID:14623110|PMID:14675182|PMID:14976311|PMID:15016963|PMID:15069681|PMID:15120218|PMID:15211648|PMID:15254419|PMID:15372512|PMID:15492994|PMID:15647370|PMID:15659546|PMID:15769473|PMID:15805158|PMID:15896465|PMID:15920539|PMID:15951562|PMID:15987703|PMID:16007494|PMID:16014636|PMID:16021145|PMID:16199547|PMID:16506206|PMID:16704655|PMID:16752378|PMID:16773562|PMID:16894538|PMID:16952599|PMID:17013611|PMID:17043057|PMID:17218260|PMID:17218261|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17427195|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17636424|PMID:17847000|PMID:17873119|PMID:17873882|PMID:17898811|PMID:17928923|PMID:17941496|PMID:17942903|PMID:17954274|PMID:18025323|PMID:18080326|PMID:18558293|PMID:18669439|PMID:18716620|PMID:18725974|PMID:18757403|PMID:18759867|PMID:18767981|PMID:18781614|PMID:18794879|PMID:18986487|PMID:19000654|PMID:19114656|PMID:19265751|PMID:19329485|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19457929|PMID:19458356|PMID:19604110|PMID:19622968|PMID:19719509|PMID:19829307|PMID:19903786|PMID:19956187|PMID:19968660|PMID:20018398|PMID:20049735|PMID:20085938|PMID:20100827|PMID:20186503|PMID:20194734|PMID:20223021|PMID:20300775|PMID:20301661|PMID:20453058|PMID:20533527|PMID:20538496|PMID:20600018|PMID:20619739|PMID:20685300|PMID:20712882|PMID:20718038|PMID:20785012|PMID:20862607|PMID:20881644|PMID:20926450|PMID:20940307|PMID:20962022|PMID:21103832|PMID:21138868|PMID:21194675|PMID:21291452|PMID:21333374|PMID:21343951|PMID:21417916|PMID:21532617|PMID:21536651|PMID:21633361|PMID:21659347|PMID:21822720|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22005521|PMID:22076652|PMID:22162582|PMID:22162589|PMID:22171747|PMID:22261759|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22371648|PMID:22375056|PMID:22381246|PMID:22413754|PMID:22469695|PMID:22479427|PMID:22491738|PMID:22503188|PMID:22505997|PMID:22520842|PMID:22536362|PMID:22558107|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22911484|PMID:22962422|PMID:22970944|PMID:23066114|PMID:23085752|PMID:23117110|PMID:23124040|PMID:23160955|PMID:23161105|PMID:23315997|PMID:23335809|PMID:23349303|PMID:23361946|PMID:2338203|PMID:23382303|PMID:23399955|PMID:23423780|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23633456|PMID:23695273|PMID:23757202|PMID:23764071|PMID:23825907|PMID:23886400|PMID:23930209|PMID:23934111|PMID:23934601|PMID:24022303|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24123798|PMID:24136893|PMID:24345843|PMID:24375884|PMID:24379037|PMID:24404930|PMID:24468202|PMID:24483290|PMID:24498881|PMID:24500884|PMID:24561254|PMID:24647592|PMID:24656772|PMID:24656806|PMID:24721394|PMID:24728327|PMID:24744697|PMID:24763289|PMID:24766807|PMID:24778394|PMID:24809327|PMID:24830819|PMID:24905788|PMID:25132236|PMID:25157968|PMID:25186627|PMID:25246819|PMID:25288137|PMID:25326635|PMID:25336918|PMID:25363760|PMID:25429968|PMID:25437057|PMID:25448478|PMID:25448481|PMID:25448482|PMID:25495427|PMID:25525159|PMID:25527629|PMID:25549896|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25851949|PMID:25875300|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26082588|PMID:26099045 8706988 Pten phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26124082|PMID:26157835|PMID:26185318|PMID:26216063|PMID:26229595|PMID:26246517|PMID:26279303|PMID:26302980|PMID:26376867|PMID:26418532|PMID:26450531|PMID:26467025|PMID:26468640|PMID:26492180|PMID:26504226|PMID:26517354|PMID:26534844|PMID:26579216|PMID:26580448|PMID:26619011|PMID:26633542|PMID:26637798|PMID:26665196|PMID:26681312|PMID:26773036|PMID:26787237|PMID:26795104|PMID:26798346|PMID:26800850|PMID:26845104|PMID:26848951|PMID:26898890|PMID:26919320|PMID:27087592|PMID:27157322|PMID:27221918|PMID:27324988|PMID:27426521|PMID:27428751|PMID:27477328|PMID:27481051|PMID:27489861|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27568332|PMID:27720647|PMID:27824329|PMID:27878467|PMID:27884173|PMID:27959697|PMID:27978560|PMID:28008555|PMID:28013114|PMID:28086757|PMID:28135145|PMID:28152038|PMID:28188106|PMID:28191890|PMID:28195393|PMID:28235761|PMID:28250423|PMID:28251007|PMID:28263302|PMID:28263967|PMID:28286253|PMID:28340209|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28497778|PMID:28513612|PMID:28523199|PMID:28526761|PMID:28600779|PMID:28655553|PMID:28677221|PMID:28724667|PMID:28755079|PMID:28758351|PMID:28774669|PMID:28821194|PMID:28873162|PMID:29033429|PMID:29043291|PMID:29048666|PMID:29095814|PMID:29273943|PMID:29282348|PMID:29296277|PMID:29359340|PMID:29359449|PMID:29371908|PMID:29373119|PMID:29444762|PMID:29496690|PMID:29510612|PMID:29533785|PMID:29594054|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29752200|PMID:29758562|PMID:29785012|PMID:29806868|PMID:29874181|PMID:29927861|PMID:29931205|PMID:29970488|PMID:30181857|PMID:30212499|PMID:30287823|PMID:30311369|PMID:30311380|PMID:30327747|PMID:30374176|PMID:30443844|PMID:30482242|PMID:30528446|PMID:30614812|PMID:30659124|PMID:30720243|PMID:30809968|PMID:30993208|PMID:31006514|PMID:31079897|PMID:31144778|PMID:31149344|PMID:31159747|PMID:31185301|PMID:31209962|PMID:31332282|PMID:31336731|PMID:31594918|PMID:31664961|PMID:31871109|PMID:32003824|PMID:32037394|PMID:32123317|PMID:32150788|PMID:32162695|PMID:32185379|PMID:32190315|PMID:32234455|PMID:32238909|PMID:32295079|PMID:32350270|PMID:32366478|PMID:32442409|PMID:32461654|PMID:32566746|PMID:32664367|PMID:32832836|PMID:32885271|PMID:32959437|PMID:33077954|PMID:33083010|PMID:33088792|PMID:33152507|PMID:33208383|PMID:33372952|PMID:33471991|PMID:33482532|PMID:33600059|PMID:33624935|PMID:33723755|PMID:33767182|PMID:33801456|PMID:33876391|PMID:33887726|PMID:34184188|PMID:34268892|PMID:34308366|PMID:34386506|PMID:34492006|PMID:34625746|PMID:35227301|PMID:35241692|PMID:36681873|PMID:36988593|PMID:37336910|PMID:7728760|PMID:8071972|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9288766|PMID:9326929|PMID:9356475|PMID:9399897|PMID:9425889|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9600246|PMID:9619835|PMID:9685848|PMID:9735393|PMID:9740666|PMID:9788441|PMID:9794233|PMID:9797362|PMID:9811831|PMID:9823298|PMID:9832031|PMID:9832032|PMID:9856571|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10051603|PMID:10076877|PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10554022|PMID:10555148|PMID:10564676|PMID:10606430|PMID:10657643|PMID:10698513|PMID:10698713|PMID:10749983|PMID:10772390|PMID:10807691|PMID:10848731|PMID:10866302|PMID:10866658|PMID:10920277|PMID:10923032|PMID:1097835|PMID:10978354|PMID:11035045|PMID:11052475|PMID:11071384|PMID:11156408|PMID:11234884|PMID:11238682|PMID:11274365|PMID:11332402|PMID:11476841|PMID:11494117|PMID:11504908|PMID:11668501|PMID:11685670|PMID:11748304|PMID:11875759|PMID:11886535|PMID:11918710|PMID:12015762|PMID:12075083|PMID:12085208|PMID:12208743|PMID:12297295|PMID:12372056|PMID:12414663|PMID:12471211|PMID:12614768|PMID:12786840|PMID:12788938|PMID:12808147|PMID:12844284|PMID:12938083|PMID:1336932|PMID:14518070|PMID:14566704|PMID:14569134|PMID:14623110|PMID:14675182|PMID:14976311|PMID:15016963|PMID:15069681|PMID:15120218|PMID:15211648|PMID:15254419|PMID:15372512|PMID:15492994|PMID:15647370|PMID:15659546|PMID:15769473|PMID:15805158|PMID:15896465|PMID:15920539|PMID:15951562|PMID:15987703|PMID:16007494|PMID:16014636|PMID:16021145|PMID:16199547|PMID:16506206|PMID:16704655|PMID:16752378|PMID:16773562|PMID:16894538|PMID:16952599|PMID:17013611|PMID:17043057|PMID:17218260|PMID:17218261|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17427195|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17636424|PMID:17847000|PMID:17873119|PMID:17873882|PMID:17898811|PMID:17928923|PMID:17941496|PMID:17942903|PMID:17954274|PMID:18025323|PMID:18080326|PMID:18558293|PMID:18669439|PMID:18716620|PMID:18725974|PMID:18757403|PMID:18759867|PMID:18767981|PMID:18781614|PMID:18794879|PMID:18986487|PMID:19000654|PMID:19114656|PMID:19265751|PMID:19329485|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19457929|PMID:19458356|PMID:19604110|PMID:19622968|PMID:19719509|PMID:19829307|PMID:19903786|PMID:19956187|PMID:19968660|PMID:20018398|PMID:20049735|PMID:20085938|PMID:20100827|PMID:20186503|PMID:20194734|PMID:20223021|PMID:20300775|PMID:20301661|PMID:20453058|PMID:20533527|PMID:20538496|PMID:20600018|PMID:20619739|PMID:20685300|PMID:20712882|PMID:20718038|PMID:20785012|PMID:20862607|PMID:20881644|PMID:20926450|PMID:20940307|PMID:20962022|PMID:21103832|PMID:21138868|PMID:21194675|PMID:21291452|PMID:21333374|PMID:21343951|PMID:21417916|PMID:21532617|PMID:21536651|PMID:21633361|PMID:21659347|PMID:21822720|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22005521|PMID:22076652|PMID:22162582|PMID:22162589|PMID:22171747|PMID:22261759|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22371648|PMID:22375056|PMID:22381246|PMID:22413754|PMID:22469695|PMID:22479427|PMID:22491738|PMID:22503188|PMID:22505997|PMID:22520842|PMID:22536362|PMID:22558107|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22911484|PMID:22962422|PMID:22970944|PMID:23066114|PMID:23085752|PMID:23117110|PMID:23124040|PMID:23160955|PMID:23161105|PMID:23315997|PMID:23335809|PMID:23349303|PMID:23361946|PMID:2338203|PMID:23382303|PMID:23399955|PMID:23423780|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23633456|PMID:23695273|PMID:23757202|PMID:23764071|PMID:23825907|PMID:23886400|PMID:23888040|PMID:23930209|PMID:23934111|PMID:23934601|PMID:24022303|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24123798|PMID:24136893|PMID:24345843|PMID:24375884|PMID:24379037|PMID:24404930|PMID:24468202|PMID:24483290|PMID:24498881|PMID:24500884|PMID:24561254|PMID:24647592|PMID:24656772|PMID:24656806|PMID:24721394|PMID:24728327|PMID:24744697|PMID:24763289|PMID:24766807|PMID:24778394|PMID:24809327|PMID:24830819|PMID:24905788|PMID:25132236|PMID:25157968|PMID:25186627|PMID:25246819|PMID:25288137|PMID:25326635|PMID:25326637|PMID:25336918|PMID:25363760|PMID:25429968|PMID:25437057|PMID:25448478|PMID:25448481|PMID:25448482|PMID:25495427|PMID:25525159|PMID:25527629|PMID:25549896|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25851949|PMID:25875300|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150 8706988 Pten phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26082588|PMID:26099045|PMID:26124082|PMID:26157835|PMID:26185318|PMID:26216063|PMID:26229595|PMID:26246517|PMID:26279303|PMID:26302980|PMID:26376867|PMID:26418532|PMID:26450531|PMID:26467025|PMID:26468640|PMID:26492180|PMID:26504226|PMID:26517354|PMID:26534844|PMID:26579216|PMID:26580448|PMID:26619011|PMID:26633542|PMID:26637798|PMID:26665196|PMID:26681312|PMID:26773036|PMID:26787237|PMID:26795104|PMID:26798346|PMID:26800850|PMID:26845104|PMID:26848951|PMID:26898890|PMID:26919320|PMID:27087592|PMID:27157322|PMID:27221918|PMID:27324988|PMID:27426521|PMID:27428751|PMID:27477328|PMID:27481051|PMID:27489861|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27568332|PMID:27720647|PMID:27824329|PMID:27878467|PMID:27884173|PMID:27959697|PMID:27978560|PMID:28008555|PMID:28013114|PMID:28086757|PMID:28135145|PMID:28152038|PMID:28188106|PMID:28191890|PMID:28195393|PMID:28235761|PMID:28250423|PMID:28251007|PMID:28263302|PMID:28263967|PMID:28286253|PMID:28340209|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28497778|PMID:28513612|PMID:28523199|PMID:28526761|PMID:28600779|PMID:28655553|PMID:28677221|PMID:28724667|PMID:28755079|PMID:28758351|PMID:28774669|PMID:28821194|PMID:28873162|PMID:29033429|PMID:29043291|PMID:29048666|PMID:29095814|PMID:29273943|PMID:29282348|PMID:29296277|PMID:29359340|PMID:29359449|PMID:29371908|PMID:29373119|PMID:29444762|PMID:29496690|PMID:29510612|PMID:29533785|PMID:29594054|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29752200|PMID:29758562|PMID:29785012|PMID:29806868|PMID:29874181|PMID:29927861|PMID:29931205|PMID:29945567|PMID:29970488|PMID:30181857|PMID:30212499|PMID:30287823|PMID:30311369|PMID:30311380|PMID:30327747|PMID:30374176|PMID:30443844|PMID:30482242|PMID:30528446|PMID:30614812|PMID:30659124|PMID:30720243|PMID:30809968|PMID:30993208|PMID:31006514|PMID:31079897|PMID:31144778|PMID:31149344|PMID:31159747|PMID:31185301|PMID:31209962|PMID:31332282|PMID:31336731|PMID:31594918|PMID:31664961|PMID:31871109|PMID:32003824|PMID:32037394|PMID:32123317|PMID:32150788|PMID:32162695|PMID:32185379|PMID:32190315|PMID:32196895|PMID:32234455|PMID:32238909|PMID:32295079|PMID:32350270|PMID:32366478|PMID:32442409|PMID:32461654|PMID:32566746|PMID:32664367|PMID:32832836|PMID:32885271|PMID:32959437|PMID:33077954|PMID:33083010|PMID:33088792|PMID:33152507|PMID:33208383|PMID:33372952|PMID:33471991|PMID:33482532|PMID:33532886|PMID:33600059|PMID:33624935|PMID:33723755|PMID:33767182|PMID:33801456|PMID:33876391|PMID:33887726|PMID:34184188|PMID:34268892|PMID:34308366|PMID:34386506|PMID:34492006|PMID:34625746|PMID:35227301|PMID:35241692|PMID:36681873|PMID:36988593|PMID:37336910|PMID:7728760|PMID:8071972|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9288766|PMID:9326929|PMID:9356475|PMID:9399897|PMID:9425889|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9600246|PMID:9619835|PMID:9685848|PMID:9735393|PMID:9740666|PMID:9788441|PMID:9794233|PMID:9797362|PMID:9811831|PMID:9823298|PMID:9832031|PMID:9832032|PMID:9856571|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10051603|PMID:10076877|PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10554022|PMID:10555148|PMID:10564676|PMID:10606430|PMID:10657643|PMID:10698513|PMID:10698713|PMID:10749983|PMID:10772390|PMID:10807691|PMID:10848731|PMID:10866302|PMID:10866658|PMID:10920277|PMID:10923032|PMID:1097835|PMID:10978354|PMID:11035045|PMID:11052475|PMID:11071384|PMID:11156408|PMID:11234884|PMID:11238682|PMID:11274365|PMID:11332402|PMID:11476841|PMID:11494117|PMID:11504908|PMID:11668501|PMID:11685670|PMID:11748304|PMID:11875759|PMID:11886535|PMID:11918710|PMID:12015762|PMID:12075083|PMID:12085208|PMID:12208743|PMID:12297295|PMID:12372056|PMID:12414663|PMID:12471211|PMID:12614768|PMID:12786840|PMID:12788938|PMID:12808147|PMID:12844284|PMID:12938083|PMID:1336932|PMID:14518070|PMID:14566704|PMID:14569134|PMID:14623110|PMID:14675182|PMID:14976311|PMID:15016963|PMID:15069681|PMID:15120218|PMID:15211648|PMID:15254419|PMID:15372512|PMID:15492994|PMID:15647370|PMID:15659546|PMID:15769473|PMID:15805158|PMID:15896465|PMID:15920539|PMID:15951562|PMID:15987703|PMID:16007494|PMID:16014636|PMID:16021145|PMID:16199547|PMID:16506206|PMID:16704655|PMID:16752378|PMID:16773562|PMID:16894538|PMID:16952599|PMID:17013611|PMID:17043057|PMID:17218260|PMID:17218261|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17427195|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17636424|PMID:17847000|PMID:17873119|PMID:17873882|PMID:17898811|PMID:17928923|PMID:17941496|PMID:17942903|PMID:17954274|PMID:18025323|PMID:18080326|PMID:18558293|PMID:18669439|PMID:18716620|PMID:18725974|PMID:18757403|PMID:18759867|PMID:18767981|PMID:18781614|PMID:18794879|PMID:18986487|PMID:19000654|PMID:19114656|PMID:19265751|PMID:19329485|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19457929|PMID:19458356|PMID:19604110|PMID:19622968|PMID:19719509|PMID:19829307|PMID:19903786|PMID:19956187|PMID:19968660|PMID:20018398|PMID:20049735|PMID:20085938|PMID:20100827|PMID:20186503|PMID:20194734|PMID:20223021|PMID:20300775|PMID:20301661|PMID:20453058|PMID:20533527|PMID:20538496|PMID:20600018|PMID:20619739|PMID:20685300|PMID:20712882|PMID:20718038|PMID:20785012|PMID:20862607|PMID:20881644|PMID:20926450|PMID:20940307|PMID:20962022|PMID:21103832|PMID:21138868|PMID:21194675|PMID:21291452|PMID:21333374|PMID:21343951|PMID:21417916|PMID:21532617|PMID:21536651|PMID:21633361|PMID:21659347|PMID:21822720|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22005521|PMID:22076652|PMID:22162582|PMID:22162589|PMID:22171747|PMID:22261759|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22371648|PMID:22375056|PMID:22381246|PMID:22413754|PMID:22469695|PMID:22479427|PMID:22491738|PMID:22503188|PMID:22505997|PMID:22520842|PMID:22536362|PMID:22558107|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22911484|PMID:22962422|PMID:22970944|PMID:23066114|PMID:23085752|PMID:23117110|PMID:23124040|PMID:23160955|PMID:23161105|PMID:23315997|PMID:23335809|PMID:23349303|PMID:23361946|PMID:2338203|PMID:23382303|PMID:23399955|PMID:23423780|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23633456|PMID:23695273|PMID:23757202|PMID:23764071|PMID:23825907|PMID:23886400|PMID:23888040|PMID:23930209|PMID:23934111|PMID:23934601|PMID:24022303|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24123798|PMID:24136893|PMID:24345843|PMID:24375884|PMID:24379037|PMID:24404930|PMID:24468202|PMID:24483290|PMID:24498881|PMID:24500884|PMID:24561254|PMID:24647592|PMID:24656772|PMID:24656806|PMID:24721394|PMID:24728327|PMID:24744697|PMID:24763289|PMID:24766807|PMID:24778394|PMID:24809327|PMID:24830819|PMID:24905788|PMID:25132236|PMID:25157968|PMID:25186627|PMID:25246819|PMID:25288137|PMID:25326635|PMID:25336918|PMID:25363760|PMID:25429968|PMID:25437057|PMID:25448478|PMID:25448481|PMID:25448482|PMID:25495427|PMID:25525159|PMID:25527629|PMID:25549896|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25851949|PMID:25875300|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26082588 8706988 Pten phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:26099045|PMID:26124082|PMID:26157835|PMID:26185318|PMID:26216063|PMID:26229595|PMID:26246517|PMID:26279303|PMID:26302980|PMID:26376867|PMID:26418532|PMID:26450531|PMID:26467025|PMID:26468640|PMID:26492180|PMID:26504226|PMID:26517354|PMID:26534844|PMID:26579216|PMID:26580448|PMID:26619011|PMID:26633542|PMID:26637798|PMID:26665196|PMID:26681312|PMID:26773036|PMID:26787237|PMID:26795104|PMID:26798346|PMID:26800850|PMID:26845104|PMID:26848951|PMID:26898890|PMID:26919320|PMID:27087592|PMID:27157322|PMID:27221918|PMID:27324988|PMID:27426521|PMID:27428751|PMID:27477328|PMID:27481051|PMID:27489861|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27568332|PMID:27720647|PMID:27824329|PMID:27878467|PMID:27884173|PMID:27959697|PMID:27978560|PMID:28008555|PMID:28013114|PMID:28086757|PMID:28135145|PMID:28152038|PMID:28188106|PMID:28191890|PMID:28195393|PMID:28235761|PMID:28250423|PMID:28251007|PMID:28263302|PMID:28263967|PMID:28286253|PMID:28340209|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28497778|PMID:28513612|PMID:28523199|PMID:28526761|PMID:28600779|PMID:28655553|PMID:28677221|PMID:28724667|PMID:28755079|PMID:28758351|PMID:28774669|PMID:28821194|PMID:28873162|PMID:29033429|PMID:29043291|PMID:29048666|PMID:29095814|PMID:29273943|PMID:29282348|PMID:29296277|PMID:29359340|PMID:29359449|PMID:29371908|PMID:29373119|PMID:29444762|PMID:29496690|PMID:29510612|PMID:29533785|PMID:29594054|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29752200|PMID:29758562|PMID:29785012|PMID:29806868|PMID:29874181|PMID:29927861|PMID:29931205|PMID:29945567|PMID:29970488|PMID:30181857|PMID:30212499|PMID:30287823|PMID:30311369|PMID:30311380|PMID:30327747|PMID:30374176|PMID:30443844|PMID:30482242|PMID:30528446|PMID:30614812|PMID:30659124|PMID:30720243|PMID:30809968|PMID:30993208|PMID:31006514|PMID:31079897|PMID:31144778|PMID:31149344|PMID:31159747|PMID:31185301|PMID:31209962|PMID:31332282|PMID:31336731|PMID:31594918|PMID:31664961|PMID:31871109|PMID:32003824|PMID:32037394|PMID:32123317|PMID:32150788|PMID:32162695|PMID:32185379|PMID:32190315|PMID:32196895|PMID:32234455|PMID:32238909|PMID:32295079|PMID:32350270|PMID:32366478|PMID:32442409|PMID:32461654|PMID:32566746|PMID:32664367|PMID:32832836|PMID:32885271|PMID:32959437|PMID:33077954|PMID:33083010|PMID:33088792|PMID:33152507|PMID:33208383|PMID:33372952|PMID:33471991|PMID:33482532|PMID:33532886|PMID:33600059|PMID:33624935|PMID:33723755|PMID:33767182|PMID:33801456|PMID:33876391|PMID:33887726|PMID:34184188|PMID:34268892|PMID:34308366|PMID:34386506|PMID:34492006|PMID:34625746|PMID:35227301|PMID:35241692|PMID:36681873|PMID:36988593|PMID:37336910|PMID:7728760|PMID:8071972|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9288766|PMID:9326929|PMID:9356475|PMID:9399897|PMID:9425889|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9600246|PMID:9619835|PMID:9685848|PMID:9735393|PMID:9740666|PMID:9788441|PMID:9794233|PMID:9797362|PMID:9811831|PMID:9823298|PMID:9832031|PMID:9832032|PMID:9856571|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10051603|PMID:10076877|PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10554022|PMID:10555148|PMID:10564676|PMID:10606430|PMID:10657643|PMID:10698513|PMID:10698713|PMID:10749983|PMID:10772390|PMID:10807691|PMID:10848731|PMID:10866302|PMID:10866658|PMID:10920277|PMID:10923032|PMID:1097835|PMID:10978354|PMID:11035045|PMID:11051241|PMID:11052475|PMID:11071384|PMID:11156408|PMID:11234884|PMID:11238682|PMID:11274365|PMID:11332402|PMID:11476841|PMID:11494117|PMID:11504908|PMID:11668501|PMID:11685670|PMID:11748304|PMID:11875759|PMID:11886535|PMID:11918710|PMID:12015762|PMID:12075083|PMID:12085208|PMID:12208743|PMID:12297295|PMID:12372056|PMID:12414663|PMID:12471211|PMID:12614768|PMID:12786840|PMID:12788938|PMID:12808147|PMID:12844284|PMID:12938083|PMID:1336932|PMID:14518070|PMID:14566704|PMID:14569134|PMID:14623110|PMID:14675182|PMID:14976311|PMID:15016963|PMID:15069681|PMID:15120218|PMID:15211648|PMID:15254419|PMID:15372512|PMID:15492994|PMID:15647370|PMID:15659546|PMID:15769473|PMID:15805158|PMID:15896465|PMID:15920539|PMID:15951562|PMID:15987703|PMID:16007494|PMID:16014636|PMID:16021145|PMID:16199547|PMID:16506206|PMID:16704655|PMID:16752378|PMID:16773562|PMID:16894538|PMID:16952599|PMID:17013611|PMID:17043057|PMID:17213812|PMID:17218260|PMID:17218261|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17427195|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17636424|PMID:17847000|PMID:17873119|PMID:17873882|PMID:17898811|PMID:17928923|PMID:17941496|PMID:17942903|PMID:17954274|PMID:18025323|PMID:18080326|PMID:18558293|PMID:18626099|PMID:18669439|PMID:18716620|PMID:18725974|PMID:18757403|PMID:18759867|PMID:18767981|PMID:18781614|PMID:18794879|PMID:18986487|PMID:19000654|PMID:19114656|PMID:19265751|PMID:19329485|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19457929|PMID:19458356|PMID:19604110|PMID:19622968|PMID:19719509|PMID:19829307|PMID:19903786|PMID:19956187|PMID:19968660|PMID:20018398|PMID:20049735|PMID:20085938|PMID:20100827|PMID:20186503|PMID:20194734|PMID:20223021|PMID:20300775|PMID:20301661|PMID:20453058|PMID:20533527|PMID:20538496|PMID:20600018|PMID:20619739|PMID:20685300|PMID:20712882|PMID:20718038|PMID:20785012|PMID:20862607|PMID:20881644|PMID:20926450|PMID:20940307|PMID:20962022|PMID:21103832|PMID:21138868|PMID:21190448|PMID:21194675|PMID:21291452|PMID:21333374|PMID:21343951|PMID:21417916|PMID:21532617|PMID:21536651|PMID:21633361|PMID:21659347|PMID:21822720|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22005521|PMID:22076652|PMID:22162582|PMID:22162589|PMID:22171747|PMID:22261759|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22371648|PMID:22375056|PMID:22381246|PMID:22413754|PMID:22469695|PMID:22479427|PMID:22491738|PMID:22503188|PMID:22505997|PMID:22520842|PMID:22536362|PMID:22558107|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22911484|PMID:22962422|PMID:22970944|PMID:23066114|PMID:23085752|PMID:23117110|PMID:23124040|PMID:23160955|PMID:23161105|PMID:23315997|PMID:23335809|PMID:23349303|PMID:23361946|PMID:2338203|PMID:23382303|PMID:23399955|PMID:23423780|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23633456|PMID:23695273|PMID:23757202|PMID:23764071|PMID:23825907|PMID:23886400|PMID:23888040|PMID:23930209|PMID:23934111|PMID:23934601|PMID:24022303|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24123798|PMID:24136893|PMID:24345843|PMID:24375884|PMID:24379037|PMID:24404930|PMID:24468202|PMID:24483290|PMID:24498881|PMID:24500884|PMID:24561254|PMID:24647592|PMID:24656772|PMID:24656806|PMID:24721394|PMID:24728327|PMID:24744697|PMID:24763289|PMID:24766807|PMID:24778394|PMID:24809327|PMID:24830819|PMID:24901346|PMID:24905788|PMID:25132236|PMID:25157968|PMID:25186627|PMID:25246819|PMID:25288137|PMID:25326635|PMID:25336918|PMID:25363760|PMID:25429968|PMID:25437057|PMID:25448478|PMID:25448481|PMID:25448482|PMID:25495427|PMID:25525159|PMID:25527629|PMID:25549896|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25851949|PMID:25875300 8706988 Pten phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26082588|PMID:26099045|PMID:26124082|PMID:26157835|PMID:26185318|PMID:26216063|PMID:26229595|PMID:26246517|PMID:26279303|PMID:26302980|PMID:26376867|PMID:26418532|PMID:26450531|PMID:26467025|PMID:26468640|PMID:26492180|PMID:26504226|PMID:26517354|PMID:26534844|PMID:26579216|PMID:26580448|PMID:26619011|PMID:26633542|PMID:26637798|PMID:26665196|PMID:26681312|PMID:26773036|PMID:26787237|PMID:26795104|PMID:26798346|PMID:26800850|PMID:26845104|PMID:26848951|PMID:26898890|PMID:26919320|PMID:27087592|PMID:27147599|PMID:27157322|PMID:27221918|PMID:27324988|PMID:27405757|PMID:27426521|PMID:27428751|PMID:27477328|PMID:27481051|PMID:27489861|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27568332|PMID:27720647|PMID:27824329|PMID:27829222|PMID:27878467|PMID:27884173|PMID:27959697|PMID:27978560|PMID:28008555|PMID:28013114|PMID:28086757|PMID:28135145|PMID:28152038|PMID:28188106|PMID:28191890|PMID:28195393|PMID:28235761|PMID:28250423|PMID:28251007|PMID:28263302|PMID:28263967|PMID:28286253|PMID:28340209|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28497778|PMID:28513612|PMID:28523199|PMID:28526761|PMID:28600779|PMID:28655553|PMID:28677221|PMID:28724667|PMID:28755079|PMID:28758351|PMID:28774669|PMID:28821194|PMID:28873162|PMID:29033429|PMID:29043291|PMID:29048666|PMID:29095814|PMID:29273943|PMID:29282348|PMID:29296277|PMID:29359340|PMID:29359449|PMID:29371908|PMID:29373119|PMID:29444762|PMID:29496690|PMID:29510612|PMID:29533785|PMID:29594054|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29752200|PMID:29758562|PMID:29785012|PMID:29806868|PMID:29874181|PMID:29927861|PMID:29931205|PMID:29945567|PMID:29970488|PMID:30181857|PMID:30212499|PMID:30287823|PMID:30311369|PMID:30311380|PMID:30327747|PMID:30374176|PMID:30443844|PMID:30482242|PMID:30528446|PMID:30614812|PMID:30659124|PMID:30720243|PMID:30809968|PMID:30993208|PMID:31006514|PMID:31079897|PMID:31144778|PMID:31149344|PMID:31159747|PMID:31185301|PMID:31209962|PMID:31332282|PMID:31336731|PMID:31594918|PMID:31609537|PMID:31664961|PMID:31712222|PMID:31871109|PMID:32003824|PMID:32037394|PMID:32123317|PMID:32150788|PMID:32162695|PMID:32185379|PMID:32190315|PMID:32196895|PMID:32234455|PMID:32238909|PMID:32295079|PMID:32350270|PMID:32366478|PMID:32378608|PMID:32442409|PMID:32461654|PMID:32566746|PMID:32664367|PMID:32832836|PMID:32885271|PMID:32959437|PMID:33077954|PMID:33083010|PMID:33088792|PMID:33152507|PMID:33208383|PMID:33372952|PMID:33471991|PMID:33482532|PMID:33532886|PMID:33600059|PMID:33624935|PMID:33723755|PMID:33767182|PMID:33801456|PMID:33876391|PMID:33887726|PMID:34184188|PMID:34268892|PMID:34308366|PMID:34386506|PMID:34492006|PMID:34625746|PMID:35227301|PMID:35241692|PMID:35399540|PMID:36681873|PMID:36988593|PMID:37090027|PMID:37336910|PMID:7728760|PMID:8071972|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9288766|PMID:9326929|PMID:9356475|PMID:9399897|PMID:9425889|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9600246|PMID:9616126|PMID:9619835|PMID:9685848|PMID:9735393|PMID:9740666|PMID:9788441|PMID:9794233|PMID:9797362|PMID:9811831|PMID:9823298|PMID:9832031|PMID:9832032|PMID:9856571|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10051160|PMID:10051603|PMID:10076877|PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10554022|PMID:10555148|PMID:10564676|PMID:10606430|PMID:10657643|PMID:10698513|PMID:10698713|PMID:10749983|PMID:10772390|PMID:10772829|PMID:10807691|PMID:10848731|PMID:10866302|PMID:10866658|PMID:10920277|PMID:10923032|PMID:1097835|PMID:10978354|PMID:11035045|PMID:11051241|PMID:11052475|PMID:11071384|PMID:11156408|PMID:11234884|PMID:11238682|PMID:11274365|PMID:11332402|PMID:11476841|PMID:11494117|PMID:11504908|PMID:11668501|PMID:11685670|PMID:11748304|PMID:11875759|PMID:11886535|PMID:11906179|PMID:11918710|PMID:12015762|PMID:12075083|PMID:12085208|PMID:12208743|PMID:12297295|PMID:12372056|PMID:12414663|PMID:12471211|PMID:12614768|PMID:12786840|PMID:12788938|PMID:12808147|PMID:12844284|PMID:12938083|PMID:1336932|PMID:14518070|PMID:14566704|PMID:14569134|PMID:14623110|PMID:14675182|PMID:14976311|PMID:15016963|PMID:15069681|PMID:15120218|PMID:15211648|PMID:15254419|PMID:15372512|PMID:15492994|PMID:15531530|PMID:15647370|PMID:15659546|PMID:15769473|PMID:15805158|PMID:15896465|PMID:15920539|PMID:15951562|PMID:15987703|PMID:16007494|PMID:16014636|PMID:16021145|PMID:16199547|PMID:16506206|PMID:16619501|PMID:16704655|PMID:16752378|PMID:16773562|PMID:16894538|PMID:16952599|PMID:17013611|PMID:17043057|PMID:17213812|PMID:17218260|PMID:17218261|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17427195|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17636424|PMID:17847000|PMID:17873119|PMID:17873882|PMID:17898811|PMID:17928923|PMID:17941496|PMID:17942903|PMID:17954274|PMID:18025323|PMID:18080326|PMID:18558293|PMID:18626099|PMID:18669439|PMID:18716620|PMID:18725974|PMID:18757403|PMID:18759867|PMID:18767981|PMID:18781614|PMID:18794879|PMID:18986487|PMID:19000654|PMID:19114656|PMID:19265751|PMID:19329485|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19457929|PMID:19458356|PMID:19604110|PMID:19622968|PMID:19719509|PMID:19829307|PMID:19903786|PMID:19956187|PMID:19968660|PMID:20018398|PMID:20049735|PMID:20085938|PMID:20100827|PMID:20186503|PMID:20194734|PMID:20223021|PMID:20300775|PMID:20301661|PMID:20453058|PMID:20533527|PMID:20538496|PMID:20600018|PMID:20619739|PMID:20685300|PMID:20712882|PMID:20718038|PMID:20785012|PMID:20862607|PMID:20881644|PMID:20926450|PMID:20940307|PMID:20962022|PMID:21103832|PMID:21138868|PMID:21190448|PMID:21194675|PMID:21291452|PMID:21333374|PMID:21343951|PMID:21417916|PMID:21532617|PMID:21536651|PMID:21633361|PMID:21659347|PMID:21822720|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22005521|PMID:22076652|PMID:22162582|PMID:22162589|PMID:22171747|PMID:22261759|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22371648|PMID:22375056|PMID:22381246|PMID:22413754|PMID:22469695|PMID:22479427|PMID:22491738|PMID:22503188|PMID:22505997|PMID:22520842|PMID:22536362|PMID:22558107|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22911484|PMID:22962422|PMID:22970944|PMID:23066114|PMID:23085752|PMID:23117110|PMID:23124040|PMID:23160955|PMID:23161105|PMID:23315997|PMID:23335809|PMID:23349303|PMID:23361946|PMID:2338203|PMID:23382303|PMID:23399955|PMID:23423780|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23633456|PMID:23695273|PMID:23757202|PMID:23764071|PMID:23825907|PMID:23886400|PMID:23888040|PMID:23930209|PMID:23934111|PMID:23934601|PMID:24022303|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24123798|PMID:24136893|PMID:24345843|PMID:24375884|PMID:24379037|PMID:24404930|PMID:24468202|PMID:24483290|PMID:24498881|PMID:24500884|PMID:24561254|PMID:24647592|PMID:24656772|PMID:24656806|PMID:24721394|PMID:24728327|PMID:24744697|PMID:24763289|PMID:24766807|PMID:24778394|PMID:24809327|PMID:24830819|PMID:24901346|PMID:24905788|PMID:25132236|PMID:25148578|PMID:25157968|PMID:25186627|PMID:25246819|PMID:25288137|PMID:25326635|PMID:25336918|PMID:25363760|PMID:25429968|PMID:25437057|PMID:25448478|PMID:25448481|PMID:25448482|PMID:25495427|PMID:25525159|PMID:25527629|PMID:25549896|PMID:25647146 8706988 Pten phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25851949|PMID:25875300|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26082588|PMID:26099045|PMID:26124082|PMID:26157835|PMID:26166433|PMID:26185318|PMID:26216063|PMID:26229595|PMID:26246517|PMID:26279303|PMID:26302980|PMID:26376867|PMID:26418532|PMID:26450531|PMID:26467025|PMID:26468640|PMID:26492180|PMID:26504226|PMID:26517354|PMID:26534844|PMID:26579216|PMID:26580448|PMID:26619011|PMID:26633542|PMID:26637798|PMID:26665196|PMID:26681312|PMID:26773036|PMID:26787237|PMID:26795104|PMID:26798346|PMID:26800850|PMID:26845104|PMID:26848951|PMID:26898890|PMID:26919320|PMID:26960334|PMID:27087592|PMID:27147599|PMID:27157322|PMID:27168869|PMID:27221918|PMID:27324988|PMID:27405757|PMID:27426521|PMID:27428751|PMID:27477328|PMID:27481051|PMID:27489861|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27568332|PMID:27720647|PMID:27824329|PMID:27829222|PMID:27878467|PMID:27884173|PMID:27959697|PMID:27978560|PMID:28008555|PMID:28013114|PMID:28086757|PMID:28135145|PMID:28152038|PMID:28188106|PMID:28191890|PMID:28195393|PMID:28235761|PMID:28250423|PMID:28251007|PMID:28263302|PMID:28263967|PMID:28286253|PMID:28289760|PMID:28340209|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28497778|PMID:28513612|PMID:28523199|PMID:28526761|PMID:28600779|PMID:28655553|PMID:28677221|PMID:28724667|PMID:28755079|PMID:28758351|PMID:28774669|PMID:28821194|PMID:28873162|PMID:29033429|PMID:29043291|PMID:29048666|PMID:29095814|PMID:29273943|PMID:29282348|PMID:29296277|PMID:29359340|PMID:29359449|PMID:29371908|PMID:29373119|PMID:29444762|PMID:29496690|PMID:29510612|PMID:29533785|PMID:29594054|PMID:29608813|PMID:29625052|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29752200|PMID:29758562|PMID:29785012|PMID:29806868|PMID:29874181|PMID:29927861|PMID:29931205|PMID:29945567|PMID:29970488|PMID:30181857|PMID:30212499|PMID:30287823|PMID:30311369|PMID:30311380|PMID:30327747|PMID:30374176|PMID:30443844|PMID:30482242|PMID:30528446|PMID:30614812|PMID:30659124|PMID:30720243|PMID:30809968|PMID:30993208|PMID:31006514|PMID:31079897|PMID:31144778|PMID:31149344|PMID:31159747|PMID:31185301|PMID:31209962|PMID:31232187|PMID:31332282|PMID:31336731|PMID:31427284|PMID:31567591|PMID:31594918|PMID:31609537|PMID:31664961|PMID:31712222|PMID:31871109|PMID:31970404|PMID:32003824|PMID:32037394|PMID:32123317|PMID:32150788|PMID:32162695|PMID:32185379|PMID:32190315|PMID:32196895|PMID:32234455|PMID:32238909|PMID:32295079|PMID:32350270|PMID:32366478|PMID:32373528|PMID:32378608|PMID:32442409|PMID:32461654|PMID:32566746|PMID:32664367|PMID:32670512|PMID:32832836|PMID:32885271|PMID:32959437|PMID:32980694|PMID:33077954|PMID:33083010|PMID:33088792|PMID:33152507|PMID:33208383|PMID:33372952|PMID:33471991|PMID:33482532|PMID:33532886|PMID:33600059|PMID:33624935|PMID:33723755|PMID:33747896|PMID:33767182|PMID:33801456|PMID:33876391|PMID:33887726|PMID:34184188|PMID:34268892|PMID:34308366|PMID:34326862|PMID:34386506|PMID:34492006|PMID:34518631|PMID:34625746|PMID:34906515|PMID:34943931|PMID:35089076|PMID:35172517|PMID:35227301|PMID:35241692|PMID:35264596|PMID:35338148|PMID:35399540|PMID:35723418|PMID:35931053|PMID:36175890|PMID:36681873|PMID:36988593|PMID:37090027|PMID:37336910|PMID:37373496|PMID:7728760|PMID:8071972|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9288766|PMID:9326929|PMID:9356475|PMID:9399897|PMID:9425889|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9600246|PMID:9616126|PMID:9619835|PMID:9685848|PMID:9735393|PMID:9740666|PMID:9788441|PMID:9794233|PMID:9797362|PMID:9811831|PMID:9823298|PMID:9832031|PMID:9832032|PMID:9856571|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10051160|PMID:10051603|PMID:10076877|PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10554022|PMID:10555148|PMID:10564676|PMID:10606430|PMID:10657643|PMID:10698513|PMID:10698713|PMID:10749983|PMID:10772390|PMID:10772829|PMID:10807691|PMID:10848731|PMID:10866302|PMID:10866658|PMID:10920277|PMID:10923032|PMID:1097835|PMID:10978354|PMID:11035045|PMID:11051241|PMID:11052475|PMID:11071384|PMID:11156408|PMID:11234884|PMID:11238682|PMID:11274365|PMID:11332402|PMID:11476841|PMID:11494117|PMID:11504908|PMID:11668501|PMID:11685670|PMID:11748304|PMID:11875759|PMID:11886535|PMID:11906179|PMID:11918710|PMID:11948419|PMID:12015762|PMID:12075083|PMID:12085208|PMID:12208743|PMID:12297295|PMID:12372056|PMID:12414663|PMID:12471211|PMID:12614768|PMID:12786840|PMID:12788938|PMID:12808147|PMID:12844284|PMID:12938083|PMID:1336932|PMID:14518070|PMID:14566704|PMID:14569134|PMID:14623110|PMID:14675182|PMID:14976311|PMID:15016963|PMID:15069681|PMID:15120218|PMID:15211648|PMID:15254419|PMID:15372512|PMID:15492994|PMID:15531530|PMID:15647370|PMID:15659546|PMID:15769473|PMID:15805158|PMID:15896465|PMID:15920539|PMID:15951562|PMID:15987703|PMID:16007494|PMID:16014636|PMID:16021145|PMID:16088943|PMID:16199547|PMID:16424003|PMID:16506206|PMID:16619501|PMID:16704655|PMID:16752378|PMID:16773562|PMID:16894538|PMID:16952599|PMID:17013611|PMID:17043057|PMID:17213812|PMID:17218260|PMID:17218261|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17427195|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17636424|PMID:17847000|PMID:17873119|PMID:17873882|PMID:17898811|PMID:17928923|PMID:17941496|PMID:17942903|PMID:17954274|PMID:18025323|PMID:18080326|PMID:18558293|PMID:18626099|PMID:18669439|PMID:18716620|PMID:18725974|PMID:18757403|PMID:18759867|PMID:18767981|PMID:18781614|PMID:18794879|PMID:18986487|PMID:19000654|PMID:19114656|PMID:19265751|PMID:19329485|PMID:19340001|PMID:19351834|PMID:19366826|PMID:1945792|PMID:19457929|PMID:19458356|PMID:19604110|PMID:19622968|PMID:19719509|PMID:19829307|PMID:19903786|PMID:19956187|PMID:19968660|PMID:20018398|PMID:20049735|PMID:20085938|PMID:20100827|PMID:20186503|PMID:20194734|PMID:20223021|PMID:20300775|PMID:20301661|PMID:20453058|PMID:20533527|PMID:20538496|PMID:20600018|PMID:20619739|PMID:20685300|PMID:20712882|PMID:20718038|PMID:20785012|PMID:20862607|PMID:20881644|PMID:20926450|PMID:20940307|PMID:20962022|PMID:21103832|PMID:21138868|PMID:21190448|PMID:21194675|PMID:21291452|PMID:21333374|PMID:21343951|PMID:21417916|PMID:21532617|PMID:21536651|PMID:21633361|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22005521|PMID:22076652|PMID:22162582|PMID:22162589|PMID:22171747|PMID:22261759|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22371648|PMID:22375056|PMID:22381246|PMID:22413754|PMID:22469695|PMID:22479427|PMID:22491738|PMID:22503188|PMID:22505997|PMID:22520842|PMID:22536362|PMID:22558107|PMID:22587530|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22911484|PMID:22962422|PMID:22970944|PMID:23066114|PMID:23085752|PMID:23117110|PMID:23124040|PMID:23160955|PMID:23161105|PMID:23315997|PMID:23319441|PMID:23335809|PMID:23349303|PMID:23361946|PMID:2338203|PMID:23382303|PMID:23399955|PMID:23423780|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23633456|PMID:23695273|PMID:23757202|PMID:23764071|PMID:23825907|PMID:23860656|PMID:23886400|PMID:23888040|PMID:23930209|PMID:23934111|PMID:23934601|PMID:24022303|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24123798|PMID:24136893|PMID:24292679|PMID:24345843|PMID:24375884|PMID:24379037|PMID:24404930|PMID:24468202|PMID:24483290|PMID:24498881|PMID:24500884|PMID:24561254|PMID:24647592|PMID:24656772|PMID:24656806|PMID:24721394|PMID:24728327|PMID:24744697|PMID:24763289|PMID:24766807|PMID:24778394|PMID:24809327|PMID:24830819|PMID:24901346|PMID:24905788|PMID:25132236|PMID:25148578|PMID:25157968|PMID:25186627|PMID:25246819|PMID:25288137|PMID:25326635|PMID:25326637|PMID:25336918|PMID:25363760 8706988 Pten phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:25429968|PMID:25437057|PMID:25448478|PMID:25448481|PMID:25448482|PMID:25495427|PMID:25525159|PMID:25527629|PMID:25549896|PMID:25554686|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25851949|PMID:25875300|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26082588|PMID:26099045|PMID:26124082|PMID:26157835|PMID:26166433|PMID:26185318|PMID:26216063|PMID:26229595|PMID:26246517|PMID:26279303|PMID:26302980|PMID:26376867|PMID:26418532|PMID:26450531|PMID:26467025|PMID:26468640|PMID:26492180|PMID:26504226|PMID:26517354|PMID:26534844|PMID:26579216|PMID:26580448|PMID:26619011|PMID:26633542|PMID:26637798|PMID:26665196|PMID:26681312|PMID:26773036|PMID:26787237|PMID:26795104|PMID:26798346|PMID:26800850|PMID:26845104|PMID:26848951|PMID:26898890|PMID:26919320|PMID:26960334|PMID:27087592|PMID:27147599|PMID:27157322|PMID:27168869|PMID:27221918|PMID:27324988|PMID:27405757|PMID:27426521|PMID:27428751|PMID:27477328|PMID:27481051|PMID:27489861|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27568332|PMID:27720647|PMID:27824329|PMID:27829222|PMID:27878467|PMID:27884173|PMID:27978560|PMID:28008555|PMID:28013114|PMID:28086757|PMID:28135145|PMID:28152038|PMID:28188106|PMID:28191890|PMID:28195393|PMID:28235761|PMID:28250423|PMID:28251007|PMID:28263302|PMID:28263967|PMID:28286253|PMID:28289760|PMID:28340209|PMID:28418444|PMID:28454995|PMID:28475857|PMID:28492532|PMID:28497778|PMID:28513612|PMID:28523199|PMID:28526761|PMID:28600779|PMID:28655553|PMID:28677221|PMID:28724667|PMID:28755079|PMID:28758351|PMID:28774669|PMID:28821194|PMID:28873162|PMID:29033429|PMID:29043291|PMID:29048666|PMID:29095814|PMID:29263802|PMID:29273943|PMID:29282348|PMID:29296277|PMID:29359340|PMID:29359449|PMID:29371908|PMID:29373119|PMID:29444762|PMID:29496690|PMID:29510612|PMID:29533785|PMID:29594054|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29735527|PMID:29752200|PMID:29758562|PMID:29785012|PMID:29806868|PMID:29874181|PMID:29927861|PMID:29931205|PMID:29945567|PMID:29970488|PMID:30181857|PMID:30212499|PMID:30287823|PMID:30311369|PMID:30311380|PMID:30327747|PMID:30374176|PMID:30443844|PMID:30482242|PMID:30528446|PMID:30614812|PMID:30659124|PMID:30720243|PMID:30809968|PMID:30993208|PMID:31006514|PMID:31079897|PMID:31144778|PMID:31149344|PMID:31159747|PMID:31185301|PMID:31209962|PMID:31232187|PMID:31332282|PMID:31336731|PMID:31427284|PMID:31548229|PMID:31567591|PMID:31594918|PMID:31609537|PMID:31636093|PMID:31664961|PMID:31674007|PMID:31712222|PMID:31871109|PMID:31970404|PMID:32003824|PMID:32037394|PMID:32123317|PMID:32150788|PMID:32162695|PMID:32162846|PMID:32185379|PMID:32190315|PMID:32196895|PMID:32234455|PMID:32238909|PMID:32295079|PMID:32350270|PMID:32366478|PMID:32373528|PMID:32378608|PMID:32442409|PMID:32461654|PMID:32566746|PMID:32664367|PMID:32670512|PMID:32832836|PMID:32885271|PMID:32923864|PMID:32959437|PMID:32980694|PMID:33077954|PMID:33083010|PMID:33083717|PMID:33088792|PMID:33152507|PMID:33208383|PMID:33372952|PMID:33471991|PMID:33482532|PMID:33532886|PMID:33600059|PMID:33624935|PMID:33723755|PMID:33747896|PMID:33767182|PMID:33801456|PMID:33876391|PMID:33887726|PMID:34184188|PMID:34268892|PMID:34308366|PMID:34326862|PMID:34386506|PMID:34492006|PMID:34518631|PMID:34625746|PMID:34661323|PMID:34906515|PMID:34943931|PMID:35089076|PMID:35172517|PMID:35227301|PMID:35241692|PMID:35264596|PMID:35338148|PMID:35352876|PMID:35399540|PMID:35723418|PMID:35931053|PMID:35982159|PMID:36175890|PMID:36270489|PMID:36681873|PMID:36988593|PMID:37035742|PMID:37090027|PMID:37336910|PMID:37373496|PMID:37673932|PMID:38028594|PMID:38311546|PMID:38546160|PMID:7728760|PMID:792966|PMID:8071972|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9265751|PMID:9288766|PMID:9326929|PMID:9356475|PMID:9399897|PMID:9425889|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9600246|PMID:9616126|PMID:9619835|PMID:9685848|PMID:9735393|PMID:9740666|PMID:9788441|PMID:9794233|PMID:9797362|PMID:9811831|PMID:9823298 8706988 Pten phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:9832031|PMID:9832032|PMID:9856571|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10051160|PMID:10051603|PMID:10076877|PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400703|PMID:10400993|PMID:10468583|PMID:10554022|PMID:10555148|PMID:10564676|PMID:10606430|PMID:10657643|PMID:10698513|PMID:10698713|PMID:10749983|PMID:10772390|PMID:10772829|PMID:10807691|PMID:10848731|PMID:10866302|PMID:10866658|PMID:10920277|PMID:10923032|PMID:1097835|PMID:10978354|PMID:11035045|PMID:11051241|PMID:11052475|PMID:11071384|PMID:11156408|PMID:11234884|PMID:11238682|PMID:11332402|PMID:11395408|PMID:1147684|PMID:11476841|PMID:11494117|PMID:11668501|PMID:11685670|PMID:11748304|PMID:11875759|PMID:11886535|PMID:11906179|PMID:11918710|PMID:11948419|PMID:12075083|PMID:12085208|PMID:12208743|PMID:12297295|PMID:12372056|PMID:12414663|PMID:12471211|PMID:12614768|PMID:12786840|PMID:12788938|PMID:12808147|PMID:12844284|PMID:12938083|PMID:1336932|PMID:14518070|PMID:14566704|PMID:14569134|PMID:14623110|PMID:14675182|PMID:14976311|PMID:15069681|PMID:15120218|PMID:15211648|PMID:15372512|PMID:15492994|PMID:15531530|PMID:15659546|PMID:15769473|PMID:15805158|PMID:15896465|PMID:15920539|PMID:15951562|PMID:15987703|PMID:16007494|PMID:16014636|PMID:16021145|PMID:16088943|PMID:16199547|PMID:16424003|PMID:16506206|PMID:16619501|PMID:16704655|PMID:16752378|PMID:16773562|PMID:16894538|PMID:16952599|PMID:17013611|PMID:17043057|PMID:17213812|PMID:17218260|PMID:17218261|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17427195|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17636424|PMID:17847000|PMID:17873119|PMID:17873882|PMID:17898811|PMID:17928923|PMID:17941496|PMID:17942903|PMID:17954274|PMID:18025323|PMID:18080326|PMID:18558293|PMID:18626099|PMID:18669439|PMID:18716620|PMID:18757403|PMID:18759867|PMID:18781614|PMID:18794879|PMID:18986487|PMID:19000654|PMID:19114656|PMID:19265751|PMID:19329485|PMID:19340001|PMID:1945792|PMID:19457929|PMID:19458356|PMID:19604110|PMID:19622968|PMID:19719509|PMID:19829307|PMID:19956187|PMID:19968660|PMID:20100827|PMID:20186503|PMID:20194734|PMID:20223021|PMID:20300775|PMID:20301661|PMID:20533527|PMID:20538496|PMID:20600018|PMID:20685300|PMID:20712882|PMID:20718038|PMID:20785012|PMID:20862607|PMID:20926450|PMID:20940307|PMID:20962022|PMID:21103832|PMID:21138868|PMID:21190448|PMID:21194675|PMID:21291452|PMID:21333374|PMID:21343951|PMID:21417916|PMID:21532617|PMID:21536651|PMID:21633361|PMID:21659347|PMID:21822720|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22005521|PMID:22076652|PMID:22171747|PMID:22261759|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22371648|PMID:22375056|PMID:22381246|PMID:22413754|PMID:22469695|PMID:22491738|PMID:22503188|PMID:22505997|PMID:22520842|PMID:22536362|PMID:22558107|PMID:22587530|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22911484|PMID:22962422|PMID:22970944|PMID:23066114|PMID:23085752|PMID:23117110|PMID:23124040|PMID:23160955|PMID:23161105|PMID:23315997|PMID:23319441|PMID:23335809|PMID:23349303|PMID:23361946|PMID:2338203|PMID:23382303|PMID:23399955|PMID:23423780|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23633456|PMID:23695273|PMID:23757202|PMID:23764071|PMID:23825907|PMID:23860656|PMID:23886400|PMID:23888040|PMID:23930209|PMID:23934111|PMID:23934601|PMID:24022303|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24123798|PMID:24136893|PMID:24292679|PMID:24345843|PMID:24375884|PMID:24379037|PMID:24404930|PMID:24468202|PMID:24483290|PMID:24498881|PMID:24500884|PMID:24561254|PMID:24647592|PMID:24656772|PMID:24656806|PMID:24721394|PMID:24728327|PMID:24744697|PMID:24763289|PMID:24766807|PMID:24778394|PMID:24809327|PMID:24830819|PMID:24901346|PMID:24905788|PMID:25132236|PMID:25148578|PMID:25157968|PMID:25186627|PMID:25246819|PMID:25288137|PMID:25326635|PMID:25326637|PMID:25336918|PMID:25363760|PMID:25429968|PMID:25437057|PMID:25448478|PMID:25448481|PMID:25448482|PMID:25495427|PMID:25525159|PMID:25527629|PMID:25549896|PMID:25554686|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25851949|PMID:25875300|PMID:25910213 8706988 Pten phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:25937288|PMID:25944380|PMID:25980754|PMID:26076150|PMID:26082588|PMID:26099045|PMID:26124082|PMID:26157835|PMID:26166433|PMID:26185318|PMID:26216063|PMID:26229595|PMID:26246517|PMID:26279303|PMID:26302980|PMID:26376867|PMID:26418532|PMID:26450531|PMID:26467025|PMID:26468640|PMID:26492180|PMID:26504226|PMID:26517354|PMID:26534844|PMID:26579216|PMID:26580448|PMID:26633542|PMID:26637798|PMID:26681312|PMID:26773036|PMID:26787237|PMID:26795104|PMID:26798346|PMID:26800850|PMID:26845104|PMID:26848951|PMID:26898890|PMID:26919320|PMID:26960334|PMID:27087592|PMID:27147599|PMID:27157322|PMID:27168869|PMID:27221918|PMID:27324988|PMID:27405757|PMID:27426521|PMID:27428751|PMID:27477328|PMID:27481051|PMID:27489861|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27568332|PMID:27720647|PMID:27824329|PMID:27829222|PMID:27878467|PMID:27884173|PMID:27978560|PMID:28008555|PMID:28013114|PMID:28086757|PMID:28135145|PMID:28152038|PMID:28188106|PMID:28191890|PMID:28195393|PMID:28235761|PMID:28250423|PMID:28251007|PMID:28263302|PMID:28263967|PMID:28286253|PMID:28289760|PMID:28340209|PMID:28418444|PMID:28454995|PMID:28475857|PMID:28492532|PMID:28497778|PMID:28513612|PMID:28523199|PMID:28526761|PMID:28600779|PMID:28655553|PMID:28677221|PMID:28724667|PMID:28755079|PMID:28758351|PMID:28774669|PMID:28821194|PMID:28873162|PMID:29033429|PMID:29043291|PMID:29048666|PMID:29095814|PMID:29152901|PMID:29263802|PMID:29273943|PMID:29282348|PMID:29296277|PMID:29359340|PMID:29359449|PMID:29371908|PMID:29373119|PMID:29444762|PMID:29496690|PMID:29510612|PMID:29533785|PMID:29594054|PMID:29608813|PMID:29625052|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29735527|PMID:29752200|PMID:29758562|PMID:29785012|PMID:29806868|PMID:29874181|PMID:29927861|PMID:29931205|PMID:29945567|PMID:29970488|PMID:30181857|PMID:30212483|PMID:30212499|PMID:30287823|PMID:30311369|PMID:30311380|PMID:30327747|PMID:30374176|PMID:30443844|PMID:30482242|PMID:30528446|PMID:30614812|PMID:30659124|PMID:30680046|PMID:30809968|PMID:30993208|PMID:31006514|PMID:31079897|PMID:31144778|PMID:31149344|PMID:31159747|PMID:31185301|PMID:31209962|PMID:31232187|PMID:31332282|PMID:31336731|PMID:31427284|PMID:31548229|PMID:31567591|PMID:31594918|PMID:31609537|PMID:31636093|PMID:31664961|PMID:31674007|PMID:31712222|PMID:31871109|PMID:31970404|PMID:32003824|PMID:32037394|PMID:32123317|PMID:32150788|PMID:32162695|PMID:32162846|PMID:32185379|PMID:32190315|PMID:32196895|PMID:32234455|PMID:32238909|PMID:32295079|PMID:32350270|PMID:32366478|PMID:32373528|PMID:32378608|PMID:32442409|PMID:32461654|PMID:32506314|PMID:32566746|PMID:32664367|PMID:32670512|PMID:32832836|PMID:32885271|PMID:32923864|PMID:32959437|PMID:32980694|PMID:33077954|PMID:33083010|PMID:33083717|PMID:33088792|PMID:33152507|PMID:33208383|PMID:33372952|PMID:33471991|PMID:33482532|PMID:33532886|PMID:33600059|PMID:33624935|PMID:33723755|PMID:33747896|PMID:33767182|PMID:33801456|PMID:33876391|PMID:33887726|PMID:34184188|PMID:34268892|PMID:34299313|PMID:34308366|PMID:34326862|PMID:34386506|PMID:34492006|PMID:34518631|PMID:34625746|PMID:34661323|PMID:34793697|PMID:34906515|PMID:34943931|PMID:35089076|PMID:35102303|PMID:35172517|PMID:35227301|PMID:35241692|PMID:35264596|PMID:35278038|PMID:35338148|PMID:35352876|PMID:35399540|PMID:35534676|PMID:35723418|PMID:35780606|PMID:35888045|PMID:35931053|PMID:35971940|PMID:35982159|PMID:36175890|PMID:36270489|PMID:36451132|PMID:36453251|PMID:36681873|PMID:36833222|PMID:36974006|PMID:36988593|PMID:37035742|PMID:37090027|PMID:37307869|PMID:37336910|PMID:37373496|PMID:37673932|PMID:37692099|PMID:38028594|PMID:38311546|PMID:38335860|PMID:38546160|PMID:38645101|PMID:39825153|PMID:7728760|PMID:792966|PMID:8071972|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9265751|PMID:9288766|PMID:9326929|PMID:9356475|PMID:9399897|PMID:9425889|PMID:9467011|PMID:9536098|PMID:9600246|PMID:9616126|PMID:9619835|PMID:9685848|PMID:9735393|PMID:9740666|PMID:9788441|PMID:9794233|PMID:9797362|PMID:9811831 8706988 Pten phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:9823298|PMID:9832031|PMID:9832032|PMID:9856571|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:9007367 Septic Peritonitis ameliorates ISO RGD:62287 D RGD:9068941 20210625 RGD associated with Escherichia Coli Infections PMID:21521784|REF_RGD_ID:127285602 8706988 Pten phosphatase and tensin homolog gene DOID:9007417 Pseudomonas Infections exacerbates ISO RGD:62287 D RGD:9068941 20210625 RGD PMID:29246444|REF_RGD_ID:127285608 8706988 Pten phosphatase and tensin homolog gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28823542 8706988 Pten phosphatase and tensin homolog gene DOID:9007653 Multiple Abnormalities ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18759867 8706988 Pten phosphatase and tensin homolog gene DOID:9007692 Insulin Resistance ISO RGD:61995 D RGD:9068941 20200609 RGD protein:increased expression, decreased acetylation:liver PMID:18385463|REF_RGD_ID:2292521 8706988 Pten phosphatase and tensin homolog gene DOID:9007692 Insulin Resistance ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18303120 8706988 Pten phosphatase and tensin homolog gene DOID:9007692 Insulin Resistance ISO RGD:69119 D RGD:9068941 20210625 RGD protein:increased activity:liver (human) PMID:24367090|REF_RGD_ID:127285595 8706988 Pten phosphatase and tensin homolog gene DOID:9007715 Endometrial Neoplasms ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12888921|PMID:16402032|PMID:16804899|PMID:9326929 8706988 Pten phosphatase and tensin homolog gene DOID:9007715 Endometrial Neoplasms ISO RGD:69119 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity:cds: (human) PMID:9765621|REF_RGD_ID:12832746 8706988 Pten phosphatase and tensin homolog gene DOID:9007715 Endometrial Neoplasms ISO RGD:69119 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:9354433|REF_RGD_ID:12832753 8706988 Pten phosphatase and tensin homolog gene DOID:9007715 Endometrial Neoplasms severity ISO RGD:69119 D RGD:9068941 20200609 RGD protein:decreased expression:endometrium PMID:17317031|REF_RGD_ID:2292506 8706988 Pten phosphatase and tensin homolog gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19038262 8706988 Pten phosphatase and tensin homolog gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:62287 D RGD:9068941 20210625 RGD PMID:20951693|REF_RGD_ID:127285611 8706988 Pten phosphatase and tensin homolog gene DOID:9008086 Developmental Disabilities ISO RGD:69119 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:16704655|PMID:19457929|PMID:20926450|PMID:21956414|PMID:24778394|PMID:25669429|PMID:25741868|PMID:26246517|PMID:26467025|PMID:27514801|PMID:28492532|PMID:28523199|PMID:29296277|PMID:29706350|PMID:29785012|PMID:32003824|PMID:37673932|PMID:9288766|PMID:9600246 8706988 Pten phosphatase and tensin homolog gene DOID:9008090 Chlamydiaceae Infections ISO RGD:62287 D RGD:9068941 20210625 RGD associated with Experimental Allergic Asthma;mRNA:decreased expression:lung (mouse) PMID:27448447|REF_RGD_ID:41404696 8706988 Pten phosphatase and tensin homolog gene DOID:9008114 Helicobacter Infections ISO RGD:69119 D RGD:9068941 20210625 RGD associated with gastritis;protein:increased phosphorylation:stomach (human) PMID:26376616|REF_RGD_ID:127285599 8706988 Pten phosphatase and tensin homolog gene DOID:9008138 Ductal Carcinoma ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29295717 8706988 Pten phosphatase and tensin homolog gene DOID:9008237 Hemimegalencephaly ISO RGD:69119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hemimegalencephaly PMID:25741868 8706988 Pten phosphatase and tensin homolog gene DOID:9008731 Craniofacial Abnormalities ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14574156|PMID:17427195|PMID:18759867|PMID:19265751|PMID:19321504|PMID:9286463 8706988 Pten phosphatase and tensin homolog gene DOID:9008939 Breast Neoplasms ISO RGD:69119 D RGD:8554872 20250114 ClinVar ClinVar Annotator: match by term: Breast neoplasm PMID:21194675|PMID:28492532|PMID:9467011 8706988 Pten phosphatase and tensin homolog gene DOID:9008952 Breast Cancer, Familial ISO RGD:69119 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Breast cancer, familial PMID:10232405|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10749983|PMID:10848731|PMID:11684570|PMID:11685670|PMID:14518070|PMID:17392703|PMID:20301661|PMID:21956414|PMID:22381246|PMID:22595938|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23695273|PMID:24033266|PMID:24052722|PMID:24778394|PMID:25157968|PMID:25288137|PMID:25326635|PMID:25549896|PMID:25669429|PMID:25741868|PMID:25756585|PMID:27477328|PMID:27959697|PMID:28492532|PMID:28526761|PMID:30287823|PMID:30614812|PMID:32238909|PMID:33077954|PMID:33600059|PMID:9399897|PMID:9467011 8706988 Pten phosphatase and tensin homolog gene DOID:9008952 Breast Cancer, Familial ISO RGD:69119 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:10232405|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10749983|PMID:10848731|PMID:11685670|PMID:11918710|PMID:14518070|PMID:17392703|PMID:18558293|PMID:20301661|PMID:21956414|PMID:22381246|PMID:22595938|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23695273|PMID:23934601|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24778394|PMID:25157968|PMID:25326635|PMID:25549896|PMID:25669429|PMID:25741868|PMID:25756585|PMID:25980754|PMID:27477328|PMID:28492532|PMID:28526761|PMID:29706350|PMID:29785012|PMID:30287823|PMID:30614812|PMID:32238909|PMID:32350270|PMID:32832836|PMID:32885271|PMID:33077954|PMID:33600059|PMID:34184188|PMID:9399897|PMID:9467011 8706988 Pten phosphatase and tensin homolog gene DOID:9008952 Breast Cancer, Familial ISO RGD:69119 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:10232405|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10749983|PMID:10848731|PMID:11685670|PMID:11918710|PMID:14518070|PMID:17392703|PMID:18558293|PMID:20301661|PMID:21956414|PMID:22381246|PMID:22595938|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23695273|PMID:23934601|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24778394|PMID:25326635|PMID:25549896|PMID:25669429|PMID:25741868|PMID:25756585|PMID:25980754|PMID:27477328|PMID:28492532|PMID:28526761|PMID:29706350|PMID:29785012|PMID:30287823|PMID:30311380|PMID:30614812|PMID:32238909|PMID:32350270|PMID:32885271|PMID:33077954|PMID:33600059|PMID:34184188|PMID:34793697|PMID:35931053|PMID:38645101|PMID:9399897|PMID:9467011 8706988 Pten phosphatase and tensin homolog gene DOID:9256 colorectal cancer exacerbates ISO RGD:69119 D RGD:9068941 20210625 RGD protein:increased expression:colorectum, cytoplasm (human) PMID:27661110|REF_RGD_ID:127285614 8706988 Pten phosphatase and tensin homolog gene DOID:9351 diabetes mellitus ISO RGD:61995 D RGD:9068941 20200609 RGD protein:increased expression, increased phosphorylation:inferior vena cava PMID:16961925|REF_RGD_ID:2292543 8706988 Pten phosphatase and tensin homolog gene DOID:936 brain disease ISO RGD:62287 D RGD:9068941 20220825 MouseDO 8706988 Pten phosphatase and tensin homolog gene DOID:9408 acute myocardial infarction ISO RGD:61995 D RGD:9068941 20210625 RGD mRNA:decreased expression:heart left ventricle (rat) PMID:26973267|REF_RGD_ID:11526378 8706988 Pten phosphatase and tensin homolog gene DOID:9408 acute myocardial infarction ISO RGD:69119 D RGD:9068941 20231026 RGD RNA:increased expression:serum PMID:32595526|REF_RGD_ID:401851053 8706988 Pten phosphatase and tensin homolog gene DOID:9408 acute myocardial infarction ameliorates ISO RGD:62287 D RGD:9068941 20230202 RGD PMID:29990866|REF_RGD_ID:155882565 8706988 Pten phosphatase and tensin homolog gene DOID:9452 steatotic liver disease ISO RGD:61995 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:18166358|REF_RGD_ID:2292522 8706988 Pten phosphatase and tensin homolog gene DOID:9452 steatotic liver disease ISO RGD:62287 D RGD:9068941 20200609 RGD PMID:15199412|REF_RGD_ID:1302555 8706988 Pten phosphatase and tensin homolog gene DOID:9452 steatotic liver disease ISO RGD:62287 D RGD:9068941 20220825 MouseDO OMIM:228100 8706988 Pten phosphatase and tensin homolog gene DOID:9452 steatotic liver disease ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27022031 8706988 Pten phosphatase and tensin homolog gene DOID:9452 steatotic liver disease ISO RGD:69119 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:18166358|REF_RGD_ID:2292522 8706988 Pten phosphatase and tensin homolog gene DOID:9460 uterine corpus cancer ISO RGD:69119 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Uterine corpus cancer PMID:29706350|PMID:29785012|PMID:9256433 8706988 Pten phosphatase and tensin homolog gene DOID:9884 muscular dystrophy treatment ISO RGD:62287 D RGD:9068941 20200609 RGD PMID:24789910|REF_RGD_ID:12859039 8706988 Pten phosphatase and tensin homolog gene DOID:9923 developmental coordination disorder ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9286463 8706988 Pten phosphatase and tensin homolog gene DOID:9952 acute lymphoblastic leukemia ISO RGD:62287 D RGD:9068941 20220825 MouseDO OMIM:247640 | OMIM:613065 | OMIM:613067 | OMIM:615545 8707008 Nfix nuclear factor I X gene DOID:0050858 Marshall-Smith syndrome ISO RGD:69161 D RGD:7240710 20180130 OMIM 8707008 Nfix nuclear factor I X gene DOID:0050858 Marshall-Smith syndrome ISO RGD:69161 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Marshall-Smith syndrome | ClinVar Annotator: match by term: NFIX-related condition PMID:16086394|PMID:16199547|PMID:17576681|PMID:20673863|PMID:20949508|PMID:22301465|PMID:23495138|PMID:24924640|PMID:25118028|PMID:25356970|PMID:25640679|PMID:25736188|PMID:25741868|PMID:26193383|PMID:26200704|PMID:26927468|PMID:27688808|PMID:28333917|PMID:28475857|PMID:28492532|PMID:29142766|PMID:29184170|PMID:29897170|PMID:31036916|PMID:33288889|PMID:33767182|PMID:35997807|PMID:37336770|PMID:8910820|PMID:9536098|PMID:9717599 8707008 Nfix nuclear factor I X gene DOID:0050990 episodic ataxia type 2 ISO RGD:69161 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:20097664|PMID:21183743|PMID:21454563|PMID:23831250|PMID:25274781|PMID:25735478|PMID:26814174|PMID:27250579|PMID:28007337|PMID:28492532|PMID:29184170|PMID:31139143 8707008 Nfix nuclear factor I X gene DOID:0080833 laryngomalacia ISO RGD:69161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital laryngomalacia PMID:25741868 8707008 Nfix nuclear factor I X gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:69161 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 8707008 Nfix nuclear factor I X gene DOID:0111254 glutaric acidemia I ISO RGD:69161 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:21454563|PMID:25274781|PMID:25735478|PMID:27250579|PMID:28492532 8707008 Nfix nuclear factor I X gene DOID:0112102 Sotos syndrome 2 ISO RGD:69161 D RGD:7240710 20180130 OMIM 8707008 Nfix nuclear factor I X gene DOID:0112102 Sotos syndrome 2 ISO RGD:69161 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: MALAN SYNDROME | ClinVar Annotator: match by term: Malan overgrowth syndrome PMID:17576681|PMID:20673863|PMID:20949508|PMID:22301465|PMID:24088041|PMID:24375697|PMID:24924640|PMID:25118028|PMID:25356970|PMID:25590979|PMID:25741868|PMID:26193383|PMID:26633545|PMID:28475857|PMID:28492532|PMID:28708303|PMID:29897170|PMID:31036916|PMID:33288889|PMID:35997807|PMID:38177409|PMID:8910820|PMID:9536098 8707008 Nfix nuclear factor I X gene DOID:1059 intellectual disability ISO RGD:69161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 8707008 Nfix nuclear factor I X gene DOID:13300 Scheuermann's disease ISO RGD:69162 D RGD:9068941 20220825 MouseDO OMIM:181440 8707008 Nfix nuclear factor I X gene DOID:3413 alpha-mannosidosis ISO RGD:69161 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 8707008 Nfix nuclear factor I X gene DOID:630 genetic disease ISO RGD:69161 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20673863|PMID:22301465|PMID:25356970|PMID:25741868|PMID:26193383|PMID:28475857|PMID:28492532|PMID:29897170|PMID:31036916|PMID:33767182|PMID:35997807|PMID:8910820 8707008 Nfix nuclear factor I X gene DOID:9000258 Aicardi-Goutieres Syndrome 4 ISO RGD:69161 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:21454563|PMID:25274781|PMID:25735478|PMID:27250579|PMID:28492532 8707008 Nfix nuclear factor I X gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:69161 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8707008 Nfix nuclear factor I X gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:69161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 8707038 Dyrk2 dual specificity tyrosine phosphorylation regulated kinase 2 gene DOID:0111402 mucopolysaccharidosis type IIID ISO RGD:1323814 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D PMID:20232353|PMID:28492532 8707038 Dyrk2 dual specificity tyrosine phosphorylation regulated kinase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1323814 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 8707059 B3galt6 beta-1,3-galactosyltransferase 6 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1319963 D RGD:7240710 20200826 OMIM 8707059 B3galt6 beta-1,3-galactosyltransferase 6 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1319963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:23664117|PMID:24766538|PMID:25149931|PMID:25741868|PMID:27023906|PMID:28229453|PMID:28492532|PMID:28649518|PMID:29230159|PMID:29443383|PMID:29620724|PMID:29931299|PMID:31674007|PMID:9683594 8707059 B3galt6 beta-1,3-galactosyltransferase 6 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1319963 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:23664117|PMID:24766538|PMID:25149931|PMID:25741868|PMID:26477546|PMID:27023906|PMID:28229453|PMID:28492532|PMID:28649518|PMID:29230159|PMID:29443383|PMID:29620724|PMID:29931299|PMID:31614862|PMID:31674007|PMID:32381727|PMID:32761602|PMID:33461977|PMID:33631843|PMID:34529350|PMID:35726512|PMID:35734427|PMID:35903967|PMID:35918752|PMID:9683594 8707059 B3galt6 beta-1,3-galactosyltransferase 6 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1319963 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 8707059 B3galt6 beta-1,3-galactosyltransferase 6 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1319963 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:23892090|PMID:28492532|PMID:31602316 8707059 B3galt6 beta-1,3-galactosyltransferase 6 gene DOID:0080738 Ehlers-Danlos syndrome spondylodysplastic type 1 ISO RGD:1319963 D RGD:9068941 20200903 CTD CTD Direct Evidence: marker/mechanism 8707059 B3galt6 beta-1,3-galactosyltransferase 6 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1319963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 8707059 B3galt6 beta-1,3-galactosyltransferase 6 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1319963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 8707059 B3galt6 beta-1,3-galactosyltransferase 6 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1319963 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8707059 B3galt6 beta-1,3-galactosyltransferase 6 gene DOID:0111934 immunodeficiency 38 ISO RGD:1319963 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8707059 B3galt6 beta-1,3-galactosyltransferase 6 gene DOID:0111935 immunodeficiency 16 ISO RGD:1319963 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8707059 B3galt6 beta-1,3-galactosyltransferase 6 gene DOID:0112197 spondyloepimetaphyseal dysplasia with joint laxity ISO RGD:1319963 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity PMID:23664117|PMID:25741868|PMID:28492532|PMID:29931299|PMID:32381727|PMID:35734427 8707059 B3galt6 beta-1,3-galactosyltransferase 6 gene DOID:0112198 spondyloepimetaphyseal dysplasia with joint laxity type 1 ISO RGD:1319963 D RGD:7240710 20190501 OMIM 8707059 B3galt6 beta-1,3-galactosyltransferase 6 gene DOID:0112198 spondyloepimetaphyseal dysplasia with joint laxity type 1 ISO RGD:1319963 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with fractures | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures PMID:23664117|PMID:23664118|PMID:24766538|PMID:25741868|PMID:27023906|PMID:28492532|PMID:29443383|PMID:29620724|PMID:29931299|PMID:32761602|PMID:33631843|PMID:34529350|PMID:35726512|PMID:35734427 8707059 B3galt6 beta-1,3-galactosyltransferase 6 gene DOID:0112280 spondyloepiphyseal dysplasia ISO RGD:1319963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia PMID:24033266 8707059 B3galt6 beta-1,3-galactosyltransferase 6 gene DOID:630 genetic disease ISO RGD:1319963 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23664117|PMID:24766538|PMID:25741868|PMID:28492532|PMID:29443383|PMID:35903967|PMID:35918752 8707059 B3galt6 beta-1,3-galactosyltransferase 6 gene DOID:9000730 Al-Gazali Syndrome ISO RGD:1319963 D RGD:7240710 20221116 OMIM 8707059 B3galt6 beta-1,3-galactosyltransferase 6 gene DOID:9000730 Al-Gazali Syndrome ISO RGD:1319963 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Al-Gazali syndrome PMID:10319196|PMID:23664117|PMID:24766538|PMID:25149931|PMID:25741868|PMID:28492532|PMID:29443383|PMID:29931299|PMID:33461977|PMID:34529350|PMID:35734427 8707059 B3galt6 beta-1,3-galactosyltransferase 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8707059 B3galt6 beta-1,3-galactosyltransferase 6 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1319963 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:23892090|PMID:28492532|PMID:31602316 8707059 B3galt6 beta-1,3-galactosyltransferase 6 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1319963 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8707070 Nop14 NOP14 nucleolar protein gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1313732 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:16794080|PMID:16917026|PMID:18626973|PMID:19261599|PMID:28492532 8707070 Nop14 NOP14 nucleolar protein gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1313732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 8707070 Nop14 NOP14 nucleolar protein gene DOID:1856 cherubism ISO RGD:1313732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 8707099 Znf512 zinc finger protein 512 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1349628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome PMID:28492532 8707116 Bpifb6 BPI fold containing family B member 6 gene DOID:0080699 glutathione synthetase deficiency ISO RGD:1323145 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: PYROGLUTAMIC ACIDURIA PMID:12638941|PMID:15717202|PMID:28492532 8707116 Bpifb6 BPI fold containing family B member 6 gene DOID:0081034 glutatione synthetase deficiency with 5-oxoprolinuria ISO RGD:1323145 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: 5-OXOPROLINURIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY PMID:12638941|PMID:15717202|PMID:28492532 8707116 Bpifb6 BPI fold containing family B member 6 gene DOID:0111039 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ISO RGD:1323145 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase PMID:15024124|PMID:20852937|PMID:28492532 8707134 Clic4 chloride intracellular channel 4 gene DOID:8398 osteoarthritis ISO RGD:737114 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 8707134 Clic4 chloride intracellular channel 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737114 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 8707134 Clic4 chloride intracellular channel 4 gene DOID:9004657 Weight Gain ISO RGD:737114 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 8707134 Clic4 chloride intracellular channel 4 gene DOID:9007661 Dwarfism ISO RGD:737114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 8707153 Slitrk1 SLIT and NTRK like family member 1 gene DOID:0050587 trichotillomania ISO RGD:1318872 D RGD:7240710 20180130 OMIM 8707153 Slitrk1 SLIT and NTRK like family member 1 gene DOID:0050587 trichotillomania ISO RGD:1318872 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Trichotillomania PMID:20301778|PMID:25741868 8707153 Slitrk1 SLIT and NTRK like family member 1 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1318872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 8707153 Slitrk1 SLIT and NTRK like family member 1 gene DOID:11119 Gilles de la Tourette syndrome ISO RGD:1318872 D RGD:7240710 20180130 OMIM 8707153 Slitrk1 SLIT and NTRK like family member 1 gene DOID:11119 Gilles de la Tourette syndrome ISO RGD:1318872 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Tourette syndrome PMID:17003809|PMID:17035247|PMID:18413575|PMID:19018236|PMID:20301778|PMID:20351724|PMID:22942103|PMID:23528612|PMID:23835198|PMID:23990902|PMID:25741868|PMID:27812321|PMID:28492532 8707162 Thap4 THAP domain containing 4 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1342863 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8707162 Thap4 THAP domain containing 4 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1342863 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8707162 Thap4 THAP domain containing 4 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1342863 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 8707162 Thap4 THAP domain containing 4 gene DOID:1059 intellectual disability ISO RGD:1342863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8707162 Thap4 THAP domain containing 4 gene DOID:9001550 Bethlem Myopathy 1A ISO RGD:1342863 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1A PMID:26004199|PMID:28492532 8707178 Slc16a1 solute carrier family 16 member 1 gene DOID:0060041 autism spectrum disorder ISO RGD:737474 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8707178 Slc16a1 solute carrier family 16 member 1 gene DOID:0070214 familial hyperinsulinemic hypoglycemia 7 ISO RGD:737474 D RGD:7240710 20180130 OMIM 8707178 Slc16a1 solute carrier family 16 member 1 gene DOID:0070214 familial hyperinsulinemic hypoglycemia 7 ISO RGD:737474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Exercise-induced hyperinsulinism | ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia familial 7 PMID:11207177|PMID:17701893|PMID:18414213|PMID:19881260|PMID:25371203|PMID:25741868|PMID:25741869|PMID:26595136|PMID:28492532 8707178 Slc16a1 solute carrier family 16 member 1 gene DOID:0080600 COVID-19 ISO RGD:737474 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8707178 Slc16a1 solute carrier family 16 member 1 gene DOID:0080690 RASopathy ISO RGD:737474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8707178 Slc16a1 solute carrier family 16 member 1 gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:737474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 8707178 Slc16a1 solute carrier family 16 member 1 gene DOID:13938 amenorrhea ISO RGD:737474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8707178 Slc16a1 solute carrier family 16 member 1 gene DOID:2018 hyperinsulinism ISO RGD:737474 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hyperinsulinism, Dominant PMID:25741868|PMID:28492532 8707178 Slc16a1 solute carrier family 16 member 1 gene DOID:3319 lymphangioleiomyomatosis ISO RGD:737474 D RGD:9068941 20220630 RGD protein:increased expression:lung (human) PMID:29885404|REF_RGD_ID:152995523 8707178 Slc16a1 solute carrier family 16 member 1 gene DOID:630 genetic disease ISO RGD:737474 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8707178 Slc16a1 solute carrier family 16 member 1 gene DOID:9002353 Erythrocyte Lactate Transporter Defect ISO RGD:737474 D RGD:7240710 20180130 OMIM 8707178 Slc16a1 solute carrier family 16 member 1 gene DOID:9002353 Erythrocyte Lactate Transporter Defect ISO RGD:737474 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Erythrocyte lactate transporter defect | ClinVar Annotator: match by term: LACTATE TRANSPORTER DEFECT, MYOPATHY DUE TO PMID:10590411|PMID:18414213|PMID:25390740|PMID:25741868|PMID:28492532|PMID:3775384 8707178 Slc16a1 solute carrier family 16 member 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:737474 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11953883 8707178 Slc16a1 solute carrier family 16 member 1 gene DOID:9007395 Monocarboxylate Transporter 1 Deficiency ISO RGD:737474 D RGD:7240710 20180130 OMIM 8707178 Slc16a1 solute carrier family 16 member 1 gene DOID:9007395 Monocarboxylate Transporter 1 Deficiency ISO RGD:737474 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monocarboxylate transporter 1 deficiency | ClinVar Annotator: match by term: Monocarboxylate transporter 1 deficiency, autosomal dominant | ClinVar Annotator: match by term: Monocarboxylate transporter 1 deficiency, autosomal recessive PMID:18414213|PMID:25390740|PMID:25741868|PMID:28492532 8707178 Slc16a1 solute carrier family 16 member 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:737474 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11953883 8707198 Alcam activated leukocyte cell adhesion molecule gene DOID:0080600 COVID-19 ISO RGD:733283 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8707198 Alcam activated leukocyte cell adhesion molecule gene DOID:2513 basal cell carcinoma ISO RGD:733283 D RGD:9068941 20240606 CTD CTD Direct Evidence: marker/mechanism PMID:36428691 8707198 Alcam activated leukocyte cell adhesion molecule gene DOID:305 carcinoma ISO RGD:733283 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8707198 Alcam activated leukocyte cell adhesion molecule gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:733283 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8707198 Alcam activated leukocyte cell adhesion molecule gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:619972 D RGD:9068941 20220324 RGD mRNA:increased expression:mammary gland (rat) PMID:16316942|REF_RGD_ID:2306898 8707198 Alcam activated leukocyte cell adhesion molecule gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:733283 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8707232 Asic5 acid sensing ion channel subunit family member 5 gene DOID:9007479 Habitual Abortions ISO RGD:736018 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 3 8707244 Gigyf1 GRB10 interacting GYF protein 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1320542 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545|PMID:35917186 8707244 Gigyf1 GRB10 interacting GYF protein 1 gene DOID:0080297 Coffin-Siris syndrome 6 ISO RGD:1320542 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome 6 PMID:25741868|PMID:35917186 8707244 Gigyf1 GRB10 interacting GYF protein 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1320542 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8707244 Gigyf1 GRB10 interacting GYF protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320542 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:33057194|PMID:34234147|PMID:34732801|PMID:3591718|PMID:35917186 8707316 Apom apolipoprotein M gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1351807 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8707316 Apom apolipoprotein M gene DOID:11372 megacolon ISO RGD:1351807 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8707316 Apom apolipoprotein M gene DOID:3393 coronary artery disease susceptibility ISO RGD:1351807 D RGD:9068941 20200609 RGD DNA:SNP:promoter:g.-778T>C(rs805296)(human) PMID:17674965|REF_RGD_ID:2314241 8707316 Apom apolipoprotein M gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1551634 D RGD:9068941 20200609 RGD protein:decreased secretion:plasma PMID:16516154|REF_RGD_ID:2314249 8707316 Apom apolipoprotein M gene DOID:9006646 Metabolic Syndrome ISO RGD:1351807 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:19539616|REF_RGD_ID:2314236 8707316 Apom apolipoprotein M gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:1351807 D RGD:9068941 20200609 RGD DNA:SNP:promoter:g.-778T>C(rs805296)(human) PMID:16572495|REF_RGD_ID:2314248 8707316 Apom apolipoprotein M gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:1351807 D RGD:9068941 20200609 RGD DNA:SNP:promoter:g.-778T>C(rs805296)(human) PMID:19007767|REF_RGD_ID:2314238 8707331 Bcas1 brain enriched myelin associated protein 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1351231 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15583422 8707331 Bcas1 brain enriched myelin associated protein 1 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1351231 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 8707374 Gss glutathione synthetase gene DOID:0080699 glutathione synthetase deficiency ISO RGD:735330 D RGD:8554872 20240528 ClinVar ClinVar Annotator: match by term: Inherited glutathione synthetase deficiency | ClinVar Annotator: match by term: PYROGLUTAMIC ACIDURIA PMID:10369661|PMID:10861239|PMID:11167850|PMID:11445798|PMID:12638941|PMID:14635114|PMID:15056072|PMID:15717202|PMID:16199547|PMID:17479648|PMID:17576681|PMID:19728142|PMID:20981092|PMID:25741868|PMID:25851806|PMID:26669244|PMID:28267090|PMID:28492532|PMID:28822442|PMID:30581542|PMID:31198081|PMID:33587123|PMID:5476481|PMID:8896573|PMID:9215686|PMID:9536098 8707374 Gss glutathione synthetase gene DOID:0081034 glutatione synthetase deficiency with 5-oxoprolinuria ISO RGD:735330 D RGD:7240710 20220223 OMIM 8707374 Gss glutathione synthetase gene DOID:0081034 glutatione synthetase deficiency with 5-oxoprolinuria ISO RGD:735330 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: 5-OXOPROLINURIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY PMID:10369661|PMID:10861239|PMID:11167850|PMID:11445798|PMID:12638941|PMID:14635114|PMID:15056072|PMID:15717202|PMID:16199547|PMID:17479648|PMID:17576681|PMID:19728142|PMID:20981092|PMID:25741868|PMID:25851806|PMID:26669244|PMID:28267090|PMID:28492532|PMID:28822442|PMID:30581542|PMID:31198081|PMID:33587123|PMID:5476481|PMID:8896573|PMID:9215686|PMID:9536098 8707374 Gss glutathione synthetase gene DOID:0112252 congenital nonspherocytic hemolytic anemia 6 ISO RGD:735330 D RGD:7240710 20241211 OMIM 8707374 Gss glutathione synthetase gene DOID:0112252 congenital nonspherocytic hemolytic anemia 6 ISO RGD:735330 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Glutathione synthetase deficiency without 5-oxoprolinuria PMID:10369661|PMID:10861239|PMID:11167850|PMID:11445798|PMID:12638941|PMID:15056072|PMID:15717202|PMID:25741868|PMID:25851806|PMID:26669244|PMID:28267090|PMID:28492532|PMID:30581542|PMID:31198081|PMID:5476481|PMID:8896573|PMID:9215686 8707374 Gss glutathione synthetase gene DOID:10652 Alzheimer's disease ISO RGD:735330 D RGD:9068941 20200609 RGD PMID:15693022|REF_RGD_ID:5508441 8707374 Gss glutathione synthetase gene DOID:2773 contact dermatitis ISO RGD:735330 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 8707374 Gss glutathione synthetase gene DOID:2843 long QT syndrome ISO RGD:735330 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 8707374 Gss glutathione synthetase gene DOID:305 carcinoma ISO RGD:735330 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8707374 Gss glutathione synthetase gene DOID:403 mouth disease ISO RGD:735330 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17682004 8707374 Gss glutathione synthetase gene DOID:5419 schizophrenia ISO RGD:735330 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 8707374 Gss glutathione synthetase gene DOID:630 genetic disease ISO RGD:735330 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15717202|PMID:17479648|PMID:17576681|PMID:25741868|PMID:25851806|PMID:28492532|PMID:28822442|PMID:8896573|PMID:9536098 8707374 Gss glutathione synthetase gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:735330 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8707374 Gss glutathione synthetase gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:735330 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8707374 Gss glutathione synthetase gene DOID:9007558 Acute Experimental Pancreatitis ISO RGD:2752 D RGD:9068941 20200609 RGD PMID:17897920|REF_RGD_ID:11353819 8707395 Metrn meteorin, glial cell differentiation regulator gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1353878 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 8707395 Metrn meteorin, glial cell differentiation regulator gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1353878 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 8707395 Metrn meteorin, glial cell differentiation regulator gene DOID:1826 epilepsy ISO RGD:1353878 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8707395 Metrn meteorin, glial cell differentiation regulator gene DOID:9009315 Idiopathic Generalized Epilepsy ISO RGD:1353878 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8707427 Ep400 E1A binding protein p400 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312347 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8707427 Ep400 E1A binding protein p400 gene DOID:9256 colorectal cancer ISO RGD:1312347 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532 8707504 C8a complement C8 alpha chain gene DOID:0060301 type I complement component 8 deficiency ISO RGD:1318077 D RGD:7240710 20180130 OMIM 8707504 C8a complement C8 alpha chain gene DOID:0060301 type I complement component 8 deficiency ISO RGD:1318077 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: C8A-related condition | ClinVar Annotator: match by term: Type I complement component 8 deficiency PMID:16199547|PMID:24033266|PMID:25741868|PMID:28492532|PMID:7649542|PMID:975502|PMID:9759902 8707504 C8a complement C8 alpha chain gene DOID:5844 myocardial infarction ISO RGD:1308355 D RGD:9068941 20200609 RGD PMID:7515561|REF_RGD_ID:1600501 8707504 C8a complement C8 alpha chain gene DOID:612 primary immunodeficiency disease ISO RGD:1318077 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9759902 8707504 C8a complement C8 alpha chain gene DOID:9008538 Neisseriaceae Infections ISO RGD:1318077 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9759902 8707504 C8a complement C8 alpha chain gene DOID:9471 meningitis ISO RGD:1318077 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9759902 8707549 Timm17b translocase of inner mitochondrial membrane 17B gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8707549 Timm17b translocase of inner mitochondrial membrane 17B gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1350623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 8707549 Timm17b translocase of inner mitochondrial membrane 17B gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1350623 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 8707549 Timm17b translocase of inner mitochondrial membrane 17B gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1350623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 8707549 Timm17b translocase of inner mitochondrial membrane 17B gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1350623 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 8707549 Timm17b translocase of inner mitochondrial membrane 17B gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1350623 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 8707549 Timm17b translocase of inner mitochondrial membrane 17B gene DOID:12849 autistic disorder ISO RGD:1350623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8707549 Timm17b translocase of inner mitochondrial membrane 17B gene DOID:9000557 Thrombocytopenia 1 ISO RGD:1350623 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Thrombocytopenia, X-linked PMID:28492532 8707549 Timm17b translocase of inner mitochondrial membrane 17B gene DOID:9169 Wiskott-Aldrich syndrome ISO RGD:1350623 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 PMID:28492532 8707558 Rimoc1 RAB7A interacting MON1-CCZ1 complex subunit 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604481 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8707596 Map4k2 mitogen-activated protein kinase kinase kinase kinase 2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1317839 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8707596 Map4k2 mitogen-activated protein kinase kinase kinase kinase 2 gene DOID:10017 multiple endocrine neoplasia type 1 ISO RGD:1317839 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 PMID:10090472|PMID:12112656|PMID:15331604|PMID:16449969|PMID:17065424|PMID:17576681|PMID:17623761|PMID:17853334|PMID:215689|PMID:23321498|PMID:25741868|PMID:28492532|PMID:28818680|PMID:29036195|PMID:9536098|PMID:9709921 8707596 Map4k2 mitogen-activated protein kinase kinase kinase kinase 2 gene DOID:1059 intellectual disability ISO RGD:1317839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8707596 Map4k2 mitogen-activated protein kinase kinase kinase kinase 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1317839 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8707596 Map4k2 mitogen-activated protein kinase kinase kinase kinase 2 gene DOID:2746 glycogen storage disease V ISO RGD:1317839 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8707596 Map4k2 mitogen-activated protein kinase kinase kinase kinase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1317839 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:12112656|PMID:17853334|PMID:25741868|PMID:28492532|PMID:9709921 8707694 Kat2b lysine acetyltransferase 2B gene DOID:0060417 3p deletion syndrome ISO RGD:1314209 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 8707694 Kat2b lysine acetyltransferase 2B gene DOID:1612 breast cancer severity ISO RGD:1314209 D RGD:9068941 20200609 RGD mRNA:increased expression:breast (human) PMID:22199269|REF_RGD_ID:9586031 8707694 Kat2b lysine acetyltransferase 2B gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1314209 D RGD:9068941 20200609 RGD mRNA:decreased expression:esophagus (human) PMID:19525977|REF_RGD_ID:9590307 8707694 Kat2b lysine acetyltransferase 2B gene DOID:684 hepatocellular carcinoma severity ISO RGD:1314209 D RGD:9068941 20200609 RGD protein:decreased expression:liver (human) PMID:23643089|REF_RGD_ID:9590314 8707694 Kat2b lysine acetyltransferase 2B gene DOID:7148 rheumatoid arthritis ISO RGD:1314209 D RGD:9068941 20230105 RGD mRNA:increased expression:peripheral blood mononuclear cell PMID:36104638|REF_RGD_ID:155791669 8707694 Kat2b lysine acetyltransferase 2B gene DOID:9000528 Coronary Disease severity ISO RGD:1314209 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-2481G>C (human) PMID:21062767|REF_RGD_ID:9590309 8707748 Chd1 chromodomain helicase DNA binding protein 1 gene DOID:0060934 neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy ISO RGD:1315610 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy PMID:25741868 8707748 Chd1 chromodomain helicase DNA binding protein 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1315610 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8707748 Chd1 chromodomain helicase DNA binding protein 1 gene DOID:0080909 castration-resistant prostate carcinoma ISO RGD:1315610 D RGD:9068941 20200609 RGD DNA:mutations: : PMID:22722839|REF_RGD_ID:9587749 8707748 Chd1 chromodomain helicase DNA binding protein 1 gene DOID:10283 prostate cancer ISO RGD:1315610 D RGD:9068941 20200609 RGD DNA:deletions: : PMID:22179824|REF_RGD_ID:9587750 8707748 Chd1 chromodomain helicase DNA binding protein 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1315610 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 8707748 Chd1 chromodomain helicase DNA binding protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315610 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8707748 Chd1 chromodomain helicase DNA binding protein 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1315610 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8707748 Chd1 chromodomain helicase DNA binding protein 1 gene DOID:9008023 Memory Disorders ISO RGD:1315610 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30728766 8707748 Chd1 chromodomain helicase DNA binding protein 1 gene DOID:9008136 Pilarowski-Bjornsson Syndrome ISO RGD:1315610 D RGD:7240710 20190315 OMIM 8707748 Chd1 chromodomain helicase DNA binding protein 1 gene DOID:9008136 Pilarowski-Bjornsson Syndrome ISO RGD:1315610 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: CHD1-related condition | ClinVar Annotator: match by term: Pilarowski-Bjornsson syndrome PMID:25418537|PMID:25741868|PMID:28492532|PMID:28866611 8707748 Chd1 chromodomain helicase DNA binding protein 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1315610 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30510241 8707790 Hax1 HCLS1 associated protein X-1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1607073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 8707790 Hax1 HCLS1 associated protein X-1 gene DOID:0050590 severe congenital neutropenia ISO RGD:1607073 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Severe congenital neutropenia PMID:16199547|PMID:17187068|PMID:19036076|PMID:19499579|PMID:22624626|PMID:25741868|PMID:28492532|PMID:31589614|PMID:32054657|PMID:34426522|PMID:37193639 8707790 Hax1 HCLS1 associated protein X-1 gene DOID:0060257 dyschromatosis symmetrica hereditaria ISO RGD:1607073 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities PMID:28492532 8707790 Hax1 HCLS1 associated protein X-1 gene DOID:0070146 hereditary sensory neuropathy type 4 ISO RGD:1607073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Sensory and Autonomic Neuropathy Type IV PMID:25741868|PMID:28492532 8707790 Hax1 HCLS1 associated protein X-1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1607073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8707790 Hax1 HCLS1 associated protein X-1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1607073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8707790 Hax1 HCLS1 associated protein X-1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1607073 D RGD:7240710 20180130 OMIM 8707790 Hax1 HCLS1 associated protein X-1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1607073 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:10581030|PMID:11519978|PMID:16199547|PMID:17187068|PMID:17576681|PMID:18055975|PMID:18330843|PMID:18337561|PMID:18611981|PMID:19036076|PMID:19118303|PMID:19499579|PMID:20065084|PMID:20177699|PMID:20182745|PMID:20220065|PMID:21108402|PMID:21344642|PMID:22102707|PMID:22624626|PMID:24482108|PMID:25326635|PMID:25741868|PMID:28102861|PMID:28454995|PMID:28492532|PMID:31321910|PMID:31589614|PMID:31980526|PMID:32005694|PMID:32054657|PMID:32581362|PMID:33381479|PMID:33560082|PMID:34134972|PMID:34426522|PMID:34826056|PMID:37193639|PMID:9536098 8707790 Hax1 HCLS1 associated protein X-1 gene DOID:1227 neutropenia ISO RGD:1607073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neutropenia PMID:28492532|PMID:32581362 8707790 Hax1 HCLS1 associated protein X-1 gene DOID:1540 parathyroid carcinoma ISO RGD:1607073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8707790 Hax1 HCLS1 associated protein X-1 gene DOID:5812 MHC class II deficiency ISO RGD:1607073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8707790 Hax1 HCLS1 associated protein X-1 gene DOID:630 genetic disease ISO RGD:1607073 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17187068|PMID:18337561|PMID:19036076|PMID:20065084|PMID:20177699|PMID:20220065|PMID:22102707|PMID:24482108|PMID:25741868|PMID:28492532|PMID:32005694|PMID:33381479|PMID:34134972|PMID:34826056 8707790 Hax1 HCLS1 associated protein X-1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1607073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8707822 Asmt acetylserotonin O-methyltransferase gene DOID:12849 autistic disorder ISO RGD:1353638 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8707822 Asmt acetylserotonin O-methyltransferase gene DOID:893 Wilson disease ISO RGD:1353638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23519153 8707836 Slc51a solute carrier family 51 member A gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:1604974 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 8707836 Slc51a solute carrier family 51 member A gene DOID:12236 primary biliary cholangitis ISO RGD:1604974 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16423920 8707836 Slc51a solute carrier family 51 member A gene DOID:12849 autistic disorder ISO RGD:1604974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8707836 Slc51a solute carrier family 51 member A gene DOID:13580 cholestasis ISO RGD:1604974 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16423920|PMID:22461449 8707836 Slc51a solute carrier family 51 member A gene DOID:1561 cognitive disorder ISO RGD:1604974 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29382564 8707836 Slc51a solute carrier family 51 member A gene DOID:5419 schizophrenia ISO RGD:1604974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8707836 Slc51a solute carrier family 51 member A gene DOID:9002471 Progressive Familial Intrahepatic Cholestasis 6 ISO RGD:1604974 D RGD:7240710 20210825 OMIM 8707836 Slc51a solute carrier family 51 member A gene DOID:9002471 Progressive Familial Intrahepatic Cholestasis 6 ISO RGD:1604974 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 6 PMID:25741868|PMID:31863603|PMID:32247663 8707836 Slc51a solute carrier family 51 member A gene DOID:9002661 Diabetes Complications ISO RGD:1604974 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29382564 8707854 Fkbp9 FKBP prolyl isomerase 9 gene DOID:0080600 COVID-19 ISO RGD:1354428 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8707854 Fkbp9 FKBP prolyl isomerase 9 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1354428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8707931 Med22 mediator complex subunit 22 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1606332 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8707931 Med22 mediator complex subunit 22 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1606332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 8707931 Med22 mediator complex subunit 22 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1606332 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 8707931 Med22 mediator complex subunit 22 gene DOID:0081097 Rafiq syndrome ISO RGD:1606332 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 8707931 Med22 mediator complex subunit 22 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1606332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 8707931 Med22 mediator complex subunit 22 gene DOID:3652 Leigh disease ISO RGD:1606332 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 8707944 Lingo4 leucine rich repeat and Ig domain containing 4 gene DOID:0080918 polymicrogyria ISO RGD:1606911 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polymicrogyria PMID:29706646 8707944 Lingo4 leucine rich repeat and Ig domain containing 4 gene DOID:0111940 immunodeficiency 42 ISO RGD:1606911 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8707944 Lingo4 leucine rich repeat and Ig domain containing 4 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1606911 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8707944 Lingo4 leucine rich repeat and Ig domain containing 4 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1606911 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8707944 Lingo4 leucine rich repeat and Ig domain containing 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1606911 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8707944 Lingo4 leucine rich repeat and Ig domain containing 4 gene DOID:5812 MHC class II deficiency ISO RGD:1606911 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8707944 Lingo4 leucine rich repeat and Ig domain containing 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606911 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8707955 Flt3lg fms related receptor tyrosine kinase 3 ligand gene DOID:0061091 immunodeficiency 125 ISO RGD:1353824 D RGD:7240710 20240918 OMIM 8707955 Flt3lg fms related receptor tyrosine kinase 3 ligand gene DOID:0061091 immunodeficiency 125 ISO RGD:1353824 D RGD:8554872 20240924 ClinVar ClinVar Annotator: match by term: Immunodeficiency 125 PMID:38701783 8707955 Flt3lg fms related receptor tyrosine kinase 3 ligand gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1353824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 8707955 Flt3lg fms related receptor tyrosine kinase 3 ligand gene DOID:12449 aplastic anemia ISO RGD:1353824 D RGD:9068941 20200609 RGD protein:increased expression:serum,plasma: PMID:7492765|REF_RGD_ID:11049505 8707955 Flt3lg fms related receptor tyrosine kinase 3 ligand gene DOID:13636 Fanconi anemia ISO RGD:1353824 D RGD:9068941 20200609 RGD protein:increased expression:serum,plasma: PMID:7492765|REF_RGD_ID:11049505 8707955 Flt3lg fms related receptor tyrosine kinase 3 ligand gene DOID:1520 colon carcinoma treatment ISO RGD:1353824 D RGD:9068941 20200609 RGD PMID:10842197|REF_RGD_ID:11049504 8707955 Flt3lg fms related receptor tyrosine kinase 3 ligand gene DOID:1793 pancreatic cancer ISO RGD:2322792 D RGD:9068941 20200609 RGD PMID:16528542|REF_RGD_ID:11049499 8707955 Flt3lg fms related receptor tyrosine kinase 3 ligand gene DOID:3068 glioblastoma treatment ISO RGD:1353824 D RGD:9068941 20200609 RGD PMID:18079358|REF_RGD_ID:11049502 8707955 Flt3lg fms related receptor tyrosine kinase 3 ligand gene DOID:3070 high grade glioma treatment ISO RGD:1353824 D RGD:9068941 20200609 RGD PMID:15564139|REF_RGD_ID:11049500 8707955 Flt3lg fms related receptor tyrosine kinase 3 ligand gene DOID:4971 myelofibrosis ISO RGD:1353824 D RGD:9068941 20200609 RGD protein:increased expression:plasma, CD34+ cell, bone marrow fibroblast: PMID:21487043|REF_RGD_ID:11049484 8707955 Flt3lg fms related receptor tyrosine kinase 3 ligand gene DOID:5844 myocardial infarction treatment ISO RGD:1557069 D RGD:9068941 20200609 RGD PMID:24184252|REF_RGD_ID:11049498 8707955 Flt3lg fms related receptor tyrosine kinase 3 ligand gene DOID:9000300 Refractory Anemia ISO RGD:1353824 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:10214861|REF_RGD_ID:11049479 8707955 Flt3lg fms related receptor tyrosine kinase 3 ligand gene DOID:9538 multiple myeloma disease_progression ISO RGD:1353824 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:26521986|REF_RGD_ID:11075232 8707975 Casq1 calsequestrin 1 gene DOID:0060178 familial hemiplegic migraine ISO RGD:1344349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemiplegic migraine PMID:28492532 8707975 Casq1 calsequestrin 1 gene DOID:0080486 peroxisome biogenesis disorder 12A ISO RGD:1344349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A (Zellweger) PMID:28492532 8707975 Casq1 calsequestrin 1 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1344349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 8707975 Casq1 calsequestrin 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1344349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8707975 Casq1 calsequestrin 1 gene DOID:423 myopathy ISO RGD:1344349 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Myopathy PMID:25741868|PMID:28492532 8707975 Casq1 calsequestrin 1 gene DOID:630 genetic disease ISO RGD:1344349 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8707975 Casq1 calsequestrin 1 gene DOID:8545 malignant hyperthermia ISO RGD:1619288 D RGD:9068941 20230525 RGD PMID:19237502|REF_RGD_ID:329813080 8707975 Casq1 calsequestrin 1 gene DOID:9002092 Tubular Aggregate Myopathies ISO RGD:1344349 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Myopathy with tubular aggregates PMID:25741868|PMID:28492532|PMID:28895244|PMID:29039140|PMID:30258016 8707975 Casq1 calsequestrin 1 gene DOID:9005189 Vacuolar Myopathy ISO RGD:1344349 D RGD:7240710 20180130 OMIM 8707975 Casq1 calsequestrin 1 gene DOID:9005189 Vacuolar Myopathy ISO RGD:1344349 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: CASQ1-related condition | ClinVar Annotator: match by term: Myopathy, vacuolar, with casq1 aggregates PMID:16714317|PMID:25116801|PMID:25741868|PMID:26136523|PMID:26416891|PMID:28492532|PMID:39825153 8707975 Casq1 calsequestrin 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1586677 D RGD:9068941 20200609 RGD protein:increased activity:skeletal muscle tissue PMID:11976916|REF_RGD_ID:2314137 8707975 Casq1 calsequestrin 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8707975 Casq1 calsequestrin 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1344349 D RGD:9068941 20200609 RGD DNA:SNP: :rs617698(human) PMID:18269685|REF_RGD_ID:2314133 8707975 Casq1 calsequestrin 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1344349 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:15561962|PMID:15561963|REF_RGD_ID:2314135|REF_RGD_ID:2314136 8707975 Casq1 calsequestrin 1 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:1344349 D RGD:9068941 20200609 RGD DNA:SNP: :rs2275703(human) PMID:17681849|REF_RGD_ID:2314134 8708010 Foxk2 forkhead box K2 gene DOID:12336 male infertility ISO RGD:1313423 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:32522586 8708010 Foxk2 forkhead box K2 gene DOID:1827 generalized epilepsy ISO RGD:1313423 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:28492532 8708010 Foxk2 forkhead box K2 gene DOID:5426 primary ovarian insufficiency ISO RGD:1313423 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868|PMID:28492532 8708022 Parvg parvin gamma gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1322037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 8708022 Parvg parvin gamma gene DOID:1059 intellectual disability ISO RGD:1322037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8708046 Cldn4 claudin 4 gene DOID:0060041 autism spectrum disorder ISO RGD:1317413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 8708046 Cldn4 claudin 4 gene DOID:0060496 respiratory allergy ISO RGD:1317413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30608172 8708046 Cldn4 claudin 4 gene DOID:11612 polycystic ovary syndrome ISO RGD:1317413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8708046 Cldn4 claudin 4 gene DOID:12849 autistic disorder ISO RGD:1317413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8708046 Cldn4 claudin 4 gene DOID:13976 peptic esophagitis ISO RGD:1307932 D RGD:9068941 20200609 RGD protein:altered localization:esophagus epithelium, cytoplasm PMID:16143882|REF_RGD_ID:2317602 8708046 Cldn4 claudin 4 gene DOID:1790 malignant mesothelioma ISO RGD:1317413 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:28377727 8708046 Cldn4 claudin 4 gene DOID:1793 pancreatic cancer ISO RGD:1317413 D RGD:9068941 20200609 RGD PMID:19555390|PMID:19793693|REF_RGD_ID:2317580|REF_RGD_ID:2317583 8708046 Cldn4 claudin 4 gene DOID:1928 Williams-Beuren syndrome ISO RGD:1317413 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 8708046 Cldn4 claudin 4 gene DOID:1929 supravalvular aortic stenosis ISO RGD:1317413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Supravalvar aortic stenosis PMID:10627943|PMID:11175284|PMID:25205790|PMID:28277377|PMID:28492532|PMID:7557968|PMID:7611295|PMID:7726172|PMID:8968740 8708046 Cldn4 claudin 4 gene DOID:2394 ovarian cancer ISO RGD:1317413 D RGD:9068941 20200609 RGD PMID:19555390|REF_RGD_ID:2317583 8708046 Cldn4 claudin 4 gene DOID:3008 invasive ductal carcinoma ISO RGD:1317413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19142967 8708046 Cldn4 claudin 4 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1317413 D RGD:9068941 20200609 RGD PMID:15693851|REF_RGD_ID:2317592 8708046 Cldn4 claudin 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1317413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8708046 Cldn4 claudin 4 gene DOID:5419 schizophrenia ISO RGD:1317413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8708046 Cldn4 claudin 4 gene DOID:8445 intestinal volvulus ISO RGD:1317413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 8708046 Cldn4 claudin 4 gene DOID:9004009 Reperfusion Injury ISO RGD:1307932 D RGD:9068941 20200609 RGD protein:increased expression, altered localization:small intestine epithelium PMID:17375208|REF_RGD_ID:2317600 8708046 Cldn4 claudin 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8708046 Cldn4 claudin 4 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1317413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19142967 8708046 Cldn4 claudin 4 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1317413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 8708046 Cldn4 claudin 4 gene DOID:9008939 Breast Neoplasms ISO RGD:1317413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19142967 8708063 Paqr6 progestin and adipoQ receptor family member 6 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1323634 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 8708063 Paqr6 progestin and adipoQ receptor family member 6 gene DOID:0080652 calcium oxalate nephrolithiasis ISO RGD:1323634 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Nephrolithiasis, calcium oxalate PMID:24886237 8708063 Paqr6 progestin and adipoQ receptor family member 6 gene DOID:0111940 immunodeficiency 42 ISO RGD:1323634 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8708063 Paqr6 progestin and adipoQ receptor family member 6 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1323634 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8708063 Paqr6 progestin and adipoQ receptor family member 6 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1323634 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8708063 Paqr6 progestin and adipoQ receptor family member 6 gene DOID:1540 parathyroid carcinoma ISO RGD:1323634 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8708063 Paqr6 progestin and adipoQ receptor family member 6 gene DOID:5812 MHC class II deficiency ISO RGD:1323634 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8708063 Paqr6 progestin and adipoQ receptor family member 6 gene DOID:585 nephrolithiasis ISO RGD:1323634 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrolithiasis, calcium oxalate PMID:24886237 8708063 Paqr6 progestin and adipoQ receptor family member 6 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1323634 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8708085 Nr5a1 nuclear receptor subfamily 5 group A member 1 gene DOID:0070168 spermatogenic failure 3 ISO RGD:68493 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:18414213|PMID:20887963|PMID:25741868|PMID:25989977|PMID:28492532|PMID:35690514|PMID:36572623 8708085 Nr5a1 nuclear receptor subfamily 5 group A member 1 gene DOID:0070169 spermatogenic failure 8 ISO RGD:68493 D RGD:7240710 20180130 OMIM 8708085 Nr5a1 nuclear receptor subfamily 5 group A member 1 gene DOID:0070169 spermatogenic failure 8 ISO RGD:68493 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 8 PMID:20887963|PMID:25741868|PMID:25989977|PMID:28492532|PMID:35690514|PMID:36572623 8708085 Nr5a1 nuclear receptor subfamily 5 group A member 1 gene DOID:0070188 spermatogenic failure 1 ISO RGD:68493 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Oligosynaptic infertility PMID:10369247|PMID:11038323|PMID:12907682|PMID:16199547|PMID:17576681|PMID:17694559|PMID:17940071|PMID:19246354|PMID:19269353|PMID:19439508|PMID:20887963|PMID:22028768|PMID:22100173|PMID:22474171|PMID:22549935|PMID:22907560|PMID:23543655|PMID:23729601|PMID:24591553|PMID:25122490|PMID:25741868|PMID:25989977|PMID:27169744|PMID:27378692|PMID:27490115|PMID:27610946|PMID:27899157|PMID:28032338|PMID:28033660|PMID:28130116|PMID:28326187|PMID:28492532|PMID:28938747|PMID:29027299|PMID:29095814|PMID:29190620|PMID:29265478|PMID:29582157|PMID:29935645|PMID:30067310|PMID:30406445|PMID:30425642|PMID:31513305|PMID:31831369|PMID:32008008|PMID:32655042|PMID:32738419|PMID:32985417|PMID:33351340|PMID:34095689|PMID:34461970|PMID:35690514|PMID:36572623|PMID:36745277|PMID:38128121|PMID:9536098 8708085 Nr5a1 nuclear receptor subfamily 5 group A member 1 gene DOID:0080864 primary ovarian insufficiency 7 ISO RGD:68493 D RGD:7240710 20180130 OMIM 8708085 Nr5a1 nuclear receptor subfamily 5 group A member 1 gene DOID:0080864 primary ovarian insufficiency 7 ISO RGD:68493 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: ADRENAL INSUFFICIENCY, NR5A1-RELATED | ClinVar Annotator: match by term: Premature ovarian failure 7 PMID:11038323|PMID:11932325|PMID:17940071|PMID:19246354|PMID:25741868|PMID:26523528|PMID:27855412|PMID:28492532|PMID:30067310|PMID:32655042|PMID:34008892|PMID:36572623 8708085 Nr5a1 nuclear receptor subfamily 5 group A member 1 gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:68493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:22028768|PMID:22907560|PMID:25122490|PMID:25741868|PMID:27169744|PMID:28492532|PMID:30425642 8708085 Nr5a1 nuclear receptor subfamily 5 group A member 1 gene DOID:0090070 hypogonadotropic hypogonadism ISO RGD:68494 D RGD:9068941 20220825 MouseDO 8708085 Nr5a1 nuclear receptor subfamily 5 group A member 1 gene DOID:0111764 46,XX sex reversal 4 ISO RGD:68493 D RGD:7240710 20200408 OMIM 8708085 Nr5a1 nuclear receptor subfamily 5 group A member 1 gene DOID:0111764 46,XX sex reversal 4 ISO RGD:68493 D RGD:8554872 20240326 ClinVar ClinVar Annotator: match by term: 46,XX sex reversal 4 PMID:11932325|PMID:22549935|PMID:25741868|PMID:26523528|PMID:27378692|PMID:27490115|PMID:27610946|PMID:27855412|PMID:28033660|PMID:28492532 8708085 Nr5a1 nuclear receptor subfamily 5 group A member 1 gene DOID:0111772 46,XY sex reversal 3 ISO RGD:68493 D RGD:7240710 20200408 OMIM 8708085 Nr5a1 nuclear receptor subfamily 5 group A member 1 gene DOID:0111772 46,XY sex reversal 3 ISO RGD:68493 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: 46,XY sex reversal 3 | ClinVar Annotator: match by term: DISORDER OF SEX DEVELOPMENT, 46,XY, NR5A1-RELATED PMID:11932325|PMID:15070943|PMID:15472171|PMID:15579739|PMID:17200175|PMID:17576681|PMID:17694559|PMID:18414213|PMID:19246354|PMID:20887963|PMID:21691958|PMID:22028768|PMID:22474171|PMID:22549935|PMID:25122490|PMID:25326637|PMID:25741868|PMID:25989977|PMID:26523528|PMID:27169744|PMID:27378692|PMID:27490115|PMID:27610946|PMID:27855412|PMID:27899157|PMID:28033660|PMID:28492532|PMID:29095814|PMID:29935645|PMID:30425642|PMID:31513305|PMID:31745530|PMID:31852928|PMID:32738419|PMID:33202802|PMID:33351340|PMID:35432193|PMID:35690514|PMID:35935368|PMID:36572623|PMID:38128121|PMID:9536098 8708085 Nr5a1 nuclear receptor subfamily 5 group A member 1 gene DOID:0112338 spermatogenic failure 57 ISO RGD:68493 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation PMID:10369247|PMID:11038323|PMID:12907682|PMID:19246354|PMID:20887963|PMID:22100173|PMID:23543655|PMID:25741868|PMID:28492532 8708085 Nr5a1 nuclear receptor subfamily 5 group A member 1 gene DOID:12336 male infertility ISO RGD:68493 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Male infertility PMID:17940071|PMID:20887963|PMID:25741868|PMID:25989977|PMID:28492532|PMID:29935645|PMID:30067310|PMID:32655042|PMID:35690514|PMID:36572623 8708085 Nr5a1 nuclear receptor subfamily 5 group A member 1 gene DOID:14447 gonadal dysgenesis treatment ISO RGD:68350 D RGD:9068941 20200609 RGD PMID:16467257|REF_RGD_ID:12904919 8708085 Nr5a1 nuclear receptor subfamily 5 group A member 1 gene DOID:14448 46,XY complete gonadal dysgenesis ISO RGD:68493 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10369247|PMID:11932325|PMID:15070943 8708085 Nr5a1 nuclear receptor subfamily 5 group A member 1 gene DOID:14450 46 XX gonadal dysgenesis ISO RGD:68493 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19246354 8708085 Nr5a1 nuclear receptor subfamily 5 group A member 1 gene DOID:1923 disorder of sexual development ISO RGD:68493 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation PMID:25741868|PMID:28492532|PMID:31513305|PMID:31852928|PMID:35432193|PMID:35935368 8708085 Nr5a1 nuclear receptor subfamily 5 group A member 1 gene DOID:289 endometriosis ISO RGD:68493 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17519303 8708085 Nr5a1 nuclear receptor subfamily 5 group A member 1 gene DOID:5426 primary ovarian insufficiency ISO RGD:68493 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19246354 8708085 Nr5a1 nuclear receptor subfamily 5 group A member 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:68493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:22028768|PMID:22907560|PMID:23154282|PMID:25122490|PMID:25383892|PMID:25741868|PMID:27169744|PMID:28492532 8708085 Nr5a1 nuclear receptor subfamily 5 group A member 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:68493 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:25741868|PMID:28492532 8708085 Nr5a1 nuclear receptor subfamily 5 group A member 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:68493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:22028768|PMID:22907560|PMID:25122490|PMID:25741868|PMID:27169744|PMID:28492532|PMID:30425642 8708085 Nr5a1 nuclear receptor subfamily 5 group A member 1 gene DOID:630 genetic disease ISO RGD:68493 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8708085 Nr5a1 nuclear receptor subfamily 5 group A member 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:68493 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23291911 8708085 Nr5a1 nuclear receptor subfamily 5 group A member 1 gene DOID:9003766 46, XY Disorders of Sex Development ISO RGD:68493 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: 46,XY disorder of sex development PMID:17694559|PMID:20887963|PMID:25741868|PMID:25989977|PMID:26260161|PMID:27899157|PMID:28492532|PMID:29265478|PMID:30425642|PMID:31513305 8708085 Nr5a1 nuclear receptor subfamily 5 group A member 1 gene DOID:9008622 Adrenal Insufficiency ISO RGD:68493 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10369247 8708085 Nr5a1 nuclear receptor subfamily 5 group A member 1 gene DOID:905 Zellweger syndrome ISO RGD:68493 D RGD:9068941 20200609 RGD DNA:deletions, missense mutations, nonsense mutation: exon:multiple PMID:16141001|REF_RGD_ID:11062374 8708100 Aldh3a2 aldehyde dehydrogenase 3 family member A2 gene DOID:0060041 autism spectrum disorder ISO RGD:737085 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8708100 Aldh3a2 aldehyde dehydrogenase 3 family member A2 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:737085 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 8708100 Aldh3a2 aldehyde dehydrogenase 3 family member A2 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:737085 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 8708100 Aldh3a2 aldehyde dehydrogenase 3 family member A2 gene DOID:0110980 Joubert syndrome 1 ISO RGD:737085 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 8708100 Aldh3a2 aldehyde dehydrogenase 3 family member A2 gene DOID:12849 autistic disorder ISO RGD:737085 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8708100 Aldh3a2 aldehyde dehydrogenase 3 family member A2 gene DOID:14501 Sjogren-Larsson syndrome ISO RGD:737085 D RGD:7240710 20180130 OMIM 8708100 Aldh3a2 aldehyde dehydrogenase 3 family member A2 gene DOID:14501 Sjogren-Larsson syndrome ISO RGD:737085 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: ALDH3A2-related condition | ClinVar Annotator: match by term: FALDH DEFICIENCY | ClinVar Annotator: match by term: ICHTHYOSIS, SPASTIC NEUROLOGIC DISORDER, AND OLIGOPHRENIA | ClinVar Annotator: match by term: Ichthyosis, spastic neurologic disorder, and oligophrenia PMID:10384396|PMID:10577908|PMID:10792573|PMID:10854114|PMID:11408337|PMID:15241804|PMID:15931689|PMID:16199547|PMID:16536828|PMID:16546179|PMID:16837225|PMID:16903323|PMID:17576681|PMID:17902024|PMID:17971613|PMID:17998529|PMID:18035827|PMID:19124283|PMID:19197545|PMID:19965611|PMID:20049467|PMID:20883264|PMID:21531120|PMID:21872273|PMID:21968182|PMID:22397046|PMID:23034980|PMID:23450279|PMID:24033266|PMID:25047030|PMID:25532748|PMID:25741868|PMID:25855245|PMID:27717089|PMID:28025403|PMID:28257279|PMID:28471629|PMID:28492532|PMID:29071827|PMID:29130490|PMID:29159939|PMID:29183715|PMID:29704247|PMID:30157790|PMID:30372562|PMID:30925032|PMID:31273323|PMID:31953843|PMID:32005694|PMID:32506993|PMID:8528251|PMID:9204959|PMID:9250352|PMID:9254849|PMID:9467812|PMID:9536098|PMID:9829906 8708100 Aldh3a2 aldehyde dehydrogenase 3 family member A2 gene DOID:630 genetic disease ISO RGD:737085 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8708100 Aldh3a2 aldehyde dehydrogenase 3 family member A2 gene DOID:9001634 Meckel Syndrome 9 ISO RGD:737085 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 9 PMID:21493627 8708122 Efna1 ephrin A1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:730990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 8708122 Efna1 ephrin A1 gene DOID:0111940 immunodeficiency 42 ISO RGD:730990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8708122 Efna1 ephrin A1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:730990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8708122 Efna1 ephrin A1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:730990 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8708122 Efna1 ephrin A1 gene DOID:1540 parathyroid carcinoma ISO RGD:730990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8708122 Efna1 ephrin A1 gene DOID:5812 MHC class II deficiency ISO RGD:730990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8708122 Efna1 ephrin A1 gene DOID:9008939 Breast Neoplasms ISO RGD:730990 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20154726 8708122 Efna1 ephrin A1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:730990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8708132 Tnfaip8l2 TNF alpha induced protein 8 like 2 gene DOID:0080422 Dravet syndrome ISO RGD:1606238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:28492532 8708132 Tnfaip8l2 TNF alpha induced protein 8 like 2 gene DOID:0080600 COVID-19 ISO RGD:1606238 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8708132 Tnfaip8l2 TNF alpha induced protein 8 like 2 gene DOID:0111940 immunodeficiency 42 ISO RGD:1606238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8708132 Tnfaip8l2 TNF alpha induced protein 8 like 2 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1606238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8708132 Tnfaip8l2 TNF alpha induced protein 8 like 2 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1606238 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8708132 Tnfaip8l2 TNF alpha induced protein 8 like 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1606238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8708132 Tnfaip8l2 TNF alpha induced protein 8 like 2 gene DOID:5812 MHC class II deficiency ISO RGD:1606238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8708132 Tnfaip8l2 TNF alpha induced protein 8 like 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:735686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC PMID:23861362|PMID:25637381|PMID:25741868|PMID:28492532|PMID:28798025|PMID:31568572 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:0050451 Brugada syndrome ISO RGD:735686 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:25741868|PMID:28492532 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:735686 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome PMID:28492532 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:735686 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome PMID:25741868 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:0050563 nonsyndromic deafness ISO RGD:735686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27356075 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:0050577 cranioectodermal dysplasia ISO RGD:735686 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Cranioectodermal dysplasia PMID:25741868 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:0050700 cardiomyopathy ISO RGD:735686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:25741868|PMID:28240702|PMID:28492532 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:0060480 left ventricular noncompaction ISO RGD:735686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction PMID:23861362|PMID:25637381|PMID:25741868|PMID:28492532|PMID:28798025|PMID:31568572 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:735686 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:24798638|PMID:25835445|PMID:2618446|PMID:28425089|PMID:28492532 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:0070236 Loeys-Dietz syndrome 5 ISO RGD:735686 D RGD:7240710 20180130 OMIM 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:0070236 Loeys-Dietz syndrome 5 ISO RGD:735686 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 5 | ClinVar Annotator: match by term: Rienhoff syndrome PMID:12529708|PMID:15639475|PMID:16199547|PMID:1631557|PMID:17576681|PMID:22943793|PMID:23824657|PMID:23861362|PMID:24125834|PMID:24798638|PMID:25136781|PMID:25351510|PMID:25447171|PMID:25637381|PMID:25741868|PMID:25835445|PMID:2618446|PMID:26184463|PMID:26188975|PMID:27848944|PMID:28087566|PMID:28166282|PMID:28240702|PMID:28425089|PMID:28492532|PMID:28798025|PMID:29109152|PMID:29247119|PMID:29392890|PMID:29551499|PMID:29907982|PMID:30675029|PMID:31568572|PMID:31898322|PMID:32746448|PMID:32897753|PMID:34076677|PMID:34659991|PMID:35819174|PMID:35903967|PMID:35918752|PMID:36973604|PMID:38041506|PMID:7737999|PMID:9536098|PMID:9683588 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:0110070 arrhythmogenic right ventricular dysplasia 1 ISO RGD:735686 D RGD:7240710 20180130 OMIM 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:0110070 arrhythmogenic right ventricular dysplasia 1 ISO RGD:735686 D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 1 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 | ClinVar Annotator: match by term: TGFB3-related condition PMID:12529708|PMID:15639475|PMID:16199547|PMID:23824657|PMID:23861362|PMID:24798638|PMID:25637381|PMID:25741868|PMID:25835445|PMID:26184463|PMID:26188975|PMID:28087566|PMID:28166282|PMID:28492532|PMID:28798025|PMID:29109152|PMID:29247119|PMID:29392890|PMID:29551499|PMID:29907982|PMID:30675029|PMID:31568572|PMID:31898322|PMID:32746448|PMID:32897753|PMID:35903967|PMID:35918752|PMID:36973604 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:1059 intellectual disability ISO RGD:735686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:10763 hypertension no_association ISO RGD:735686 D RGD:9068941 20200609 RGD DNA:polymorphism, SNPs PMID:15924806|REF_RGD_ID:1625704 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:735686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:25637381|PMID:25741868|PMID:25835445|PMID:28492532|PMID:28798025|PMID:31568572 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:735686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:28492532 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:14004 thoracic aortic aneurysm ISO RGD:735686 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:17576681|PMID:23824657|PMID:23861362|PMID:24125834|PMID:24238504|PMID:24798638|PMID:25136781|PMID:25351510|PMID:25447171|PMID:25637381|PMID:25741868|PMID:25835445|PMID:26184463|PMID:26188975|PMID:27848944|PMID:28087566|PMID:28166282|PMID:28240702|PMID:28492532|PMID:28798025|PMID:29109152|PMID:29247119|PMID:29392890|PMID:29907982|PMID:31568572|PMID:31898322|PMID:32746448|PMID:32897753|PMID:7737999|PMID:9536098|PMID:9683588 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:14004 thoracic aortic aneurysm ISO RGD:735686 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:17576681|PMID:23824657|PMID:23861362|PMID:24125834|PMID:24238504|PMID:24798638|PMID:25136781|PMID:25351510|PMID:25447171|PMID:25637381|PMID:25741868|PMID:25835445|PMID:26184463|PMID:26188975|PMID:27848944|PMID:28087566|PMID:28166282|PMID:28240702|PMID:28492532|PMID:28798025|PMID:29109152|PMID:29247119|PMID:29392890|PMID:29907982|PMID:31568572|PMID:31898322|PMID:32746448|PMID:32897753|PMID:34659991|PMID:7737999|PMID:9536098|PMID:9683588 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:14004 thoracic aortic aneurysm ISO RGD:735686 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:17576681|PMID:23824657|PMID:23861362|PMID:24125834|PMID:24238504|PMID:24798638|PMID:25136781|PMID:25351510|PMID:25447171|PMID:25637381|PMID:25741868|PMID:25835445|PMID:26184463|PMID:26188975|PMID:27848944|PMID:28087566|PMID:28166282|PMID:28240702|PMID:28492532|PMID:28798025|PMID:29109152|PMID:29247119|PMID:29392890|PMID:29551499|PMID:29907982|PMID:30675029|PMID:31568572|PMID:31898322|PMID:32746448|PMID:32897753|PMID:34659991|PMID:36973604|PMID:7737999|PMID:9536098|PMID:9683588 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:14004 thoracic aortic aneurysm ISO RGD:735686 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:17576681|PMID:23824657|PMID:23861362|PMID:24125834|PMID:24798638|PMID:25136781|PMID:25351510|PMID:25447171|PMID:25637381|PMID:25741868|PMID:25835445|PMID:26184463|PMID:26188975|PMID:27848944|PMID:28166282|PMID:28240702|PMID:28492532|PMID:28798025|PMID:29109152|PMID:29247119|PMID:29392890|PMID:29551499|PMID:29907982|PMID:30675029|PMID:31568572|PMID:31898322|PMID:32746448|PMID:32897753|PMID:34659991|PMID:35819174|PMID:36973604|PMID:7737999|PMID:9536098|PMID:9683588 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:14004 thoracic aortic aneurysm ISO RGD:735686 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:17576681|PMID:23824657|PMID:23861362|PMID:24125834|PMID:24798638|PMID:25136781|PMID:25351510|PMID:25447171|PMID:25637381|PMID:25741868|PMID:25835445|PMID:26184463|PMID:26188975|PMID:27848944|PMID:28087566|PMID:28166282|PMID:28240702|PMID:28492532|PMID:28798025|PMID:29109152|PMID:29247119|PMID:29392890|PMID:29551499|PMID:29907982|PMID:30675029|PMID:31568572|PMID:31898322|PMID:32746448|PMID:32897753|PMID:34659991|PMID:35819174|PMID:35903967|PMID:35918752|PMID:36973604|PMID:38041506|PMID:7737999|PMID:9536098|PMID:9683588 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:219 colon cancer disease_progression ISO RGD:735686 D RGD:9068941 20200609 RGD PMID:18360718|REF_RGD_ID:13432091 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:2843 long QT syndrome ISO RGD:735686 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25637381|PMID:25741868|PMID:28492532|PMID:28798025|PMID:31568572 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:3498 pancreatic ductal adenocarcinoma ameliorates ISO RGD:735686 D RGD:9068941 20221027 RGD protein:decreased expression:pancreas (human) PMID:8253361|REF_RGD_ID:155630628 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:674 cleft palate ISO RGD:733158 D RGD:9068941 20200609 RGD PMID:17097601|REF_RGD_ID:12801424 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:674 cleft palate ISO RGD:735686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26971374|PMID:7493022 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:9001600 Wounds and Injuries ISO RGD:3851 D RGD:9068941 20200609 RGD PMID:18205704|REF_RGD_ID:2292158 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:9006182 Carotid Artery Injuries ISO RGD:3851 D RGD:9068941 20230527 RGD mRNA:increased expression:carotic artery (rat) PMID:9622270|REF_RGD_ID:329845558 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:9006836 Contracture ISO RGD:735686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Contractures 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:9007033 Ventricular Premature Complexes ISO RGD:735686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ventricular contraction 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:9007870 Respiratory System Abnormalities ISO RGD:735686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7493022 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:9008582 Developmental Disease ISO RGD:735686 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868|PMID:25835445|PMID:26188975|PMID:28492532|PMID:31898322 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:9256 colorectal cancer treatment ISO RGD:735686 D RGD:9068941 20200609 RGD PMID:12778073|REF_RGD_ID:13432088 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:9743 diabetic neuropathy ISO RGD:3851 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA:increased expression:sciatic nerve PMID:18406405|REF_RGD_ID:2302086 8708155 Rragb Ras related GTP binding B gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8708155 Rragb Ras related GTP binding B gene DOID:0111823 autosomal hemophilia A ISO RGD:1343212 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A PMID:31690835 8708155 Rragb Ras related GTP binding B gene DOID:12134 factor VIII deficiency ISO RGD:1343212 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Factor 8 deficiency, congenital PMID:31690835 8708155 Rragb Ras related GTP binding B gene DOID:12849 autistic disorder ISO RGD:1343212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8708176 Mpv17 mitochondrial inner membrane protein MPV17 gene DOID:0070329 mitochondrial DNA depletion syndrome ISO RGD:1353525 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome PMID:16582910|PMID:16909392|PMID:17576681|PMID:18261905|PMID:18329934|PMID:19012992|PMID:20074988|PMID:20614188|PMID:22508010|PMID:23714749|PMID:23829229|PMID:24190800|PMID:25129007|PMID:25741868|PMID:25861990|PMID:26437932|PMID:26467025|PMID:26741492|PMID:27536553|PMID:28209105|PMID:28492532|PMID:28673863|PMID:29282788|PMID:30273399|PMID:30298599|PMID:30833296|PMID:31673878|PMID:32703289|PMID:34476298|PMID:34979697|PMID:9536098 8708176 Mpv17 mitochondrial inner membrane protein MPV17 gene DOID:0080121 mitochondrial DNA depletion syndrome 3 ISO RGD:1619253 D RGD:9068941 20220825 MouseDO OMIM:251880 8708176 Mpv17 mitochondrial inner membrane protein MPV17 gene DOID:0080125 mitochondrial DNA depletion syndrome 6 ISO RGD:1353525 D RGD:7240710 20180130 OMIM 8708176 Mpv17 mitochondrial inner membrane protein MPV17 gene DOID:0080125 mitochondrial DNA depletion syndrome 6 ISO RGD:1353525 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: MPV17-related mitochondrial DNA maintenance defect | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) PMID:16199547|PMID:16582910|PMID:16909392|PMID:17576681|PMID:17694548|PMID:18261905|PMID:18695062|PMID:19012992|PMID:19520594|PMID:20074988|PMID:22508010|PMID:22964873|PMID:23714749|PMID:23829229|PMID:24190800|PMID:25016221|PMID:25129007|PMID:25741868|PMID:25861990|PMID:26437932|PMID:26467025|PMID:26741492|PMID:27536553|PMID:27848944|PMID:28207748|PMID:28209105|PMID:28492532|PMID:28673863|PMID:28776642|PMID:29282788|PMID:29318572|PMID:30273399|PMID:30298599|PMID:30782936|PMID:30833296|PMID:31319225|PMID:31664948|PMID:31673878|PMID:32703289|PMID:33258288|PMID:33486010|PMID:34476298|PMID:34979697|PMID:36753038|PMID:37712079|PMID:9536098 8708176 Mpv17 mitochondrial inner membrane protein MPV17 gene DOID:0080337 mitochondrial DNA depletion syndrome 15 ISO RGD:1353525 D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) PMID:16582910|PMID:16909392|PMID:17694548|PMID:19520594|PMID:23714749|PMID:23829229|PMID:25016221|PMID:25741868|PMID:26437932|PMID:27536553|PMID:28492532|PMID:28673863|PMID:29282788|PMID:30298599|PMID:31673878|PMID:34476298|PMID:37712079 8708176 Mpv17 mitochondrial inner membrane protein MPV17 gene DOID:0110033 autosomal recessive Alport syndrome ISO RGD:1619253 D RGD:9068941 20220825 MouseDO OMIM:203780 8708176 Mpv17 mitochondrial inner membrane protein MPV17 gene DOID:0111559 Charcot-Marie-Tooth disease type 2EE ISO RGD:1353525 D RGD:7240710 20190515 OMIM 8708176 Mpv17 mitochondrial inner membrane protein MPV17 gene DOID:0111559 Charcot-Marie-Tooth disease type 2EE ISO RGD:1353525 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2EE | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2EE | ClinVar Annotator: match by term: MPV17-related condition PMID:16199547|PMID:16582910|PMID:16909392|PMID:17576681|PMID:17694548|PMID:18261905|PMID:18695062|PMID:19012992|PMID:19520594|PMID:20074988|PMID:22508010|PMID:22964873|PMID:23714749|PMID:23829229|PMID:24190800|PMID:25016221|PMID:25129007|PMID:25741868|PMID:25861990|PMID:26437932|PMID:26467025|PMID:26741492|PMID:27536553|PMID:27848944|PMID:28209105|PMID:28492532|PMID:28673863|PMID:29282788|PMID:29318572|PMID:30273399|PMID:30298599|PMID:30782936|PMID:30833296|PMID:31319225|PMID:31664948|PMID:31673878|PMID:32703289|PMID:33258288|PMID:33486010|PMID:34476298|PMID:34979697|PMID:37712079|PMID:9536098 8708176 Mpv17 mitochondrial inner membrane protein MPV17 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1353525 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome PMID:28492532 8708176 Mpv17 mitochondrial inner membrane protein MPV17 gene DOID:10123 pigmentation disease ISO RGD:1353525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18818194 8708176 Mpv17 mitochondrial inner membrane protein MPV17 gene DOID:1184 nephrotic syndrome ISO RGD:1619253 D RGD:9068941 20220825 MouseDO OMIM:256300 | OMIM:256370 | OMIM:600995 | OMIM:610725 | OMIM:614196 | OMIM:614199 | OMIM:615008 | OMIM:615244 | OMIM:615573 | OMIM:615861 8708176 Mpv17 mitochondrial inner membrane protein MPV17 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1353525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18818194 8708176 Mpv17 mitochondrial inner membrane protein MPV17 gene DOID:5463 cochlear disease ISO RGD:1353525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18818194 8708176 Mpv17 mitochondrial inner membrane protein MPV17 gene DOID:576 proteinuria ISO RGD:1353525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18818194 8708176 Mpv17 mitochondrial inner membrane protein MPV17 gene DOID:630 genetic disease ISO RGD:1353525 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8708176 Mpv17 mitochondrial inner membrane protein MPV17 gene DOID:700 mitochondrial metabolism disease ISO RGD:1353525 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:16582910|PMID:16909392|PMID:18261905|PMID:19012992|PMID:20074988|PMID:25741868|PMID:26467025|PMID:28209105|PMID:28492532|PMID:29282788|PMID:30273399|PMID:30833296|PMID:32703289 8708176 Mpv17 mitochondrial inner membrane protein MPV17 gene DOID:9000761 Deoxyguanosine Kinase Deficiency ISO RGD:1353525 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Hepatocerebral Mitochondrial DNA Depletion Syndrome PMID:23714749|PMID:25741868|PMID:26437932|PMID:28492532|PMID:28673863|PMID:29282788|PMID:30298599|PMID:31673878|PMID:34476298 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:0050534 congenital stationary night blindness ISO RGD:1352855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness PMID:28041643 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:0050572 cone-rod dystrophy ISO RGD:1352855 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Cone-rod degeneration PMID:30718709 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:0050795 cone dystrophy ISO RGD:1352855 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:11857109|PMID:11875055|PMID:22264887|PMID:25741868|PMID:28492532|PMID:29785639 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:0070195 X-linked chronic granulomatous disease ISO RGD:1352855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked PMID:22929960|PMID:27701760|PMID:28492532 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:0110413 retinitis pigmentosa 6 ISO RGD:1352855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 6 PMID:25741868 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:0110414 retinitis pigmentosa 3 ISO RGD:1352855 D RGD:7240710 20180130 OMIM 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:0110414 retinitis pigmentosa 3 ISO RGD:1352855 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 3 PMID:10401007|PMID:10482958|PMID:10932196|PMID:10937588|PMID:10970770|PMID:11754050|PMID:11754051|PMID:11857109|PMID:11875055|PMID:11992260|PMID:12160730|PMID:12402343|PMID:12657579|PMID:14564670|PMID:14691151|PMID:15734019|PMID:16055928|PMID:16387007|PMID:16936086|PMID:16969763|PMID:17195164|PMID:17405150|PMID:17480003|PMID:17576681|PMID:17724181|PMID:18332319|PMID:18552978|PMID:19815619|PMID:19893586|PMID:20631154|PMID:21326217|PMID:21866333|PMID:22264887|PMID:22888088|PMID:23150612|PMID:23213406|PMID:23372056|PMID:23681342|PMID:24033266|PMID:25283059|PMID:25352739|PMID:25356976|PMID:25741868|PMID:25741869|PMID:26093275|PMID:26143542|PMID:26261414|PMID:27620828|PMID:27995965|PMID:28322733|PMID:28492532|PMID:28863407|PMID:29276052|PMID:29528978|PMID:29721948|PMID:29785639|PMID:30029497|PMID:30105367|PMID:30193314|PMID:30289068|PMID:30567410|PMID:30622176|PMID:31054281|PMID:31456290|PMID:31645972|PMID:31804667|PMID:31816670|PMID:31953110|PMID:31960602|PMID:32000842|PMID:32036094|PMID:32531858|PMID:32679846|PMID:32702353|PMID:32795431|PMID:33090715|PMID:33302505|PMID:33355362|PMID:33546218|PMID:33576794|PMID:33620278|PMID:34745198|PMID:34828430|PMID:34906470|PMID:349855|PMID:34985506|PMID:35432464|PMID:35806195|PMID:36276946|PMID:36284670|PMID:36460718|PMID:36819107|PMID:36996441|PMID:7611300|PMID:8673101|PMID:8817343|PMID:9326322|PMID:9399904|PMID:9536098|PMID:9855162 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:0111008 X-linked cone-rod dystrophy 1 ISO RGD:1352855 D RGD:7240710 20180130 OMIM 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:0111008 X-linked cone-rod dystrophy 1 ISO RGD:1352855 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: X-linked cone-rod dystrophy | ClinVar Annotator: match by term: X-linked cone-rod dystrophy 1 PMID:10480356|PMID:10482958|PMID:10932196|PMID:10937588|PMID:11857109|PMID:11875055|PMID:12657579|PMID:14691151|PMID:15914600|PMID:16055928|PMID:16199547|PMID:16969763|PMID:17195164|PMID:18332319|PMID:22264887|PMID:23150612|PMID:23372056|PMID:23681342|PMID:24033266|PMID:25741868|PMID:26093275|PMID:26197217|PMID:26747767|PMID:27620828|PMID:27995965|PMID:28492532|PMID:29785639|PMID:30193314|PMID:31630094|PMID:31645972|PMID:31804667|PMID:31953110|PMID:32795431|PMID:32856788|PMID:33355362|PMID:34745198|PMID:34906470|PMID:34985506|PMID:35432464|PMID:35806195|PMID:36460718|PMID:36882936|PMID:8673101 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:0112124 X-linked retinitis pigmentosa and sinorespiratory infections ISO RGD:1352855 D RGD:7240710 20180130 OMIM 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:0112124 X-linked retinitis pigmentosa and sinorespiratory infections ISO RGD:1352855 D RGD:8554872 20230516 ClinVar ClinVar Annotator: match by term: RETINITIS PIGMENTOSA, SINORESPIRATORY INFECTIONS, AND DEAFNESS | ClinVar Annotator: match by term: Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness PMID:10094550|PMID:14627685|PMID:16055928|PMID:1733835|PMID:25741868|PMID:8673101 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:0112157 X-linked atrophic macular degeneration ISO RGD:1352855 D RGD:7240710 20180130 OMIM 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:0112157 X-linked atrophic macular degeneration ISO RGD:1352855 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Macular degeneration, X-linked atrophic PMID:12160730|PMID:24033266|PMID:25741868|PMID:28492532|PMID:8673101 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:10485 esophageal atresia ISO RGD:1352855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:10584 retinitis pigmentosa ISO RGD:1352855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10482958|PMID:10932196|PMID:11992260|PMID:16055928|PMID:16969763|PMID:17480003|PMID:20861475|PMID:23372056|PMID:25741868|PMID:26143542|PMID:28041643|PMID:28492532|PMID:30718709|PMID:30917587|PMID:31645972|PMID:32531858|PMID:32679846|PMID:8817343 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:10584 retinitis pigmentosa ISO RGD:1352855 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10482958|PMID:10932196|PMID:11992260|PMID:16055928|PMID:16969763|PMID:17480003|PMID:23372056|PMID:25741868|PMID:26143542|PMID:28041643|PMID:28492532|PMID:30718709|PMID:30917587|PMID:31645972|PMID:32531858|PMID:32679846|PMID:8817343 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:10584 retinitis pigmentosa ISO RGD:1352855 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10482958|PMID:10932196|PMID:11754050|PMID:11992260|PMID:12657579|PMID:16055928|PMID:16969763|PMID:17195164|PMID:17480003|PMID:23150612|PMID:23372056|PMID:25741868|PMID:26143542|PMID:27236918|PMID:28041643|PMID:28492532|PMID:30718709|PMID:30917587|PMID:31645972|PMID:32531858|PMID:32679846|PMID:8817343 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:10584 retinitis pigmentosa ISO RGD:1352855 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10482958|PMID:10932196|PMID:11754050|PMID:11992260|PMID:12402343|PMID:12657579|PMID:16055928|PMID:16199547|PMID:16936086|PMID:16969763|PMID:17195164|PMID:17480003|PMID:17576681|PMID:17724181|PMID:18332319|PMID:18552978|PMID:20861475|PMID:22264887|PMID:23150612|PMID:23213406|PMID:23372056|PMID:25741868|PMID:26143542|PMID:26261414|PMID:27620828|PMID:28041643|PMID:28322733|PMID:28492532|PMID:29276052|PMID:30029497|PMID:30622176|PMID:30718709|PMID:30917587|PMID:31456290|PMID:31645972|PMID:31804667|PMID:32531858|PMID:32679846|PMID:32702353|PMID:8673101|PMID:8817343|PMID:9536098 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:10584 retinitis pigmentosa ISO RGD:1352855 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10482958|PMID:10932196|PMID:11754050|PMID:11992260|PMID:12402343|PMID:12657579|PMID:16055928|PMID:16199547|PMID:16936086|PMID:16969763|PMID:17195164|PMID:17480003|PMID:17576681|PMID:17724181|PMID:18332319|PMID:18552978|PMID:20861475|PMID:22264887|PMID:23150612|PMID:23213406|PMID:23372056|PMID:25741868|PMID:26143542|PMID:26261414|PMID:27620828|PMID:28041643|PMID:28322733|PMID:28492532|PMID:29276052|PMID:30029497|PMID:30622176|PMID:30718709|PMID:30917587|PMID:31456290|PMID:31645972|PMID:31804667|PMID:32531858|PMID:32679846|PMID:32702353|PMID:34906470|PMID:8673101|PMID:8817343|PMID:9536098 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:10584 retinitis pigmentosa ISO RGD:1352855 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10482958|PMID:10932196|PMID:10970770|PMID:11754050|PMID:11992260|PMID:12402343|PMID:12657579|PMID:16055928|PMID:16199547|PMID:16936086|PMID:16969763|PMID:17195164|PMID:17480003|PMID:17576681|PMID:17724181|PMID:18332319|PMID:18552978|PMID:19893586|PMID:20861475|PMID:22264887|PMID:23150612|PMID:23213406|PMID:23372056|PMID:25741868|PMID:26143542|PMID:26261414|PMID:27620828|PMID:28041643|PMID:28322733|PMID:28492532|PMID:29276052|PMID:30029497|PMID:30289068|PMID:30622176|PMID:30718709|PMID:30917587|PMID:31456290|PMID:31645972|PMID:31804667|PMID:32531858|PMID:32679846|PMID:32702353|PMID:34906470|PMID:34985506|PMID:7611300|PMID:8673101|PMID:8817343|PMID:9399904|PMID:9536098 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:10584 retinitis pigmentosa ISO RGD:1352855 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10482958|PMID:10932196|PMID:10970770|PMID:11754050|PMID:11992260|PMID:12402343|PMID:12657579|PMID:16055928|PMID:16199547|PMID:16936086|PMID:16969763|PMID:17195164|PMID:17480003|PMID:17576681|PMID:17724181|PMID:18332319|PMID:18552978|PMID:19893586|PMID:20861475|PMID:22264887|PMID:23150612|PMID:23213406|PMID:23372056|PMID:25741868|PMID:26143542|PMID:26261414|PMID:27620828|PMID:28041643|PMID:28322733|PMID:28492532|PMID:29276052|PMID:30029497|PMID:30289068|PMID:30622176|PMID:30718709|PMID:30917587|PMID:31456290|PMID:31645972|PMID:31804667|PMID:32531858|PMID:32679846|PMID:32702353|PMID:34906470|PMID:34985506|PMID:36909829|PMID:7611300|PMID:8673101|PMID:8817343|PMID:9399904|PMID:9536098 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:10584 retinitis pigmentosa ISO RGD:1352855 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10482958|PMID:10932196|PMID:10970770|PMID:11754050|PMID:11992260|PMID:12402343|PMID:12657579|PMID:16055928|PMID:16199547|PMID:16936086|PMID:16969763|PMID:17195164|PMID:17480003|PMID:17576681|PMID:17724181|PMID:18332319|PMID:18552978|PMID:19893586|PMID:20861475|PMID:22264887|PMID:23150612|PMID:23213406|PMID:23372056|PMID:23443027|PMID:25741868|PMID:26143542|PMID:26261414|PMID:27620828|PMID:28041643|PMID:28322733|PMID:28492532|PMID:29276052|PMID:30029497|PMID:30289068|PMID:30622176|PMID:30718709|PMID:30917587|PMID:31456290|PMID:31645972|PMID:31804667|PMID:32036094|PMID:32531858|PMID:32679846|PMID:32702353|PMID:34906470|PMID:34985506|PMID:36909829|PMID:7611300|PMID:8673101|PMID:8817343|PMID:9399904|PMID:9536098 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:10584 retinitis pigmentosa ISO RGD:1352855 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10482958|PMID:10932196|PMID:10970770|PMID:11754050|PMID:11992260|PMID:12402343|PMID:12657579|PMID:14691151|PMID:16055928|PMID:16199547|PMID:16936086|PMID:16969763|PMID:17195164|PMID:17480003|PMID:17576681|PMID:17724181|PMID:18332319|PMID:18552978|PMID:19893586|PMID:20861475|PMID:22264887|PMID:23150612|PMID:23213406|PMID:23372056|PMID:23443027|PMID:23681342|PMID:25741868|PMID:26143542|PMID:26261414|PMID:27620828|PMID:27995965|PMID:28041643|PMID:28322733|PMID:28492532|PMID:29276052|PMID:30029497|PMID:30193314|PMID:30289068|PMID:30622176|PMID:30718709|PMID:30917587|PMID:31456290|PMID:31645972|PMID:31804667|PMID:31953110|PMID:32036094|PMID:32531858|PMID:32679846|PMID:32702353|PMID:34906470|PMID:34985506|PMID:36909829|PMID:7611300|PMID:8673101|PMID:8817343|PMID:9399904|PMID:9536098 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:10584 retinitis pigmentosa ISO RGD:1352855 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10482958|PMID:10932196|PMID:10970770|PMID:11754050|PMID:11992260|PMID:12402343|PMID:12657579|PMID:14691151|PMID:16055928|PMID:16199547|PMID:16936086|PMID:16969763|PMID:17195164|PMID:17480003|PMID:17576681|PMID:17724181|PMID:18332319|PMID:18552978|PMID:19893586|PMID:20861475|PMID:22264887|PMID:23150612|PMID:23213406|PMID:23372056|PMID:23443027|PMID:23681342|PMID:25741868|PMID:26143542|PMID:26261414|PMID:27620828|PMID:27995965|PMID:28041643|PMID:28322733|PMID:28492532|PMID:288634|PMID:28863407|PMID:29276052|PMID:30029497|PMID:30193314|PMID:30289068|PMID:30543658|PMID:30622176|PMID:30718709|PMID:30917587|PMID:31456290|PMID:31645972|PMID:31804667|PMID:31953110|PMID:32036094|PMID:3214136|PMID:32531858|PMID:32679846|PMID:32702353|PMID:32795431|PMID:33090715|PMID:33355362|PMID:33620278|PMID:34745198|PMID:34906470|PMID:34985506|PMID:35432464|PMID:35806195|PMID:36276946|PMID:36460718|PMID:36909829|PMID:36996441|PMID:7611300|PMID:8673101|PMID:8817343|PMID:9399904|PMID:9536098 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:12336 male infertility ISO RGD:1557212 D RGD:9068941 20200609 RGD PMID:18579752|REF_RGD_ID:8553213 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:12849 autistic disorder ISO RGD:1352855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:14791 Leber congenital amaurosis treatment ISO RGD:1557212 D RGD:9068941 20200609 RGD PMID:20384479|REF_RGD_ID:8553217 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:4448 macular degeneration ISO RGD:1352855 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:25741868|PMID:28041643|PMID:28492532 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:5723 optic atrophy ISO RGD:1352855 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:25741868 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:8466 retinal degeneration ISO RGD:1352855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19430481 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:8466 retinal degeneration ISO RGD:1557212 D RGD:9068941 20200609 RGD PMID:15671266|REF_RGD_ID:8553201 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:8501 fundus dystrophy ISO RGD:1352855 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10480356|PMID:10482958|PMID:10737996|PMID:10932196|PMID:10937588|PMID:11180598|PMID:11754050|PMID:11857109|PMID:11875055|PMID:11992260|PMID:12160730|PMID:12402343|PMID:12657579|PMID:14564670|PMID:14691151|PMID:15734019|PMID:16055928|PMID:16199547|PMID:16387007|PMID:16969763|PMID:17195164|PMID:17576681|PMID:17724181|PMID:18332319|PMID:18552978|PMID:19815619|PMID:20631154|PMID:21326217|PMID:21857984|PMID:21866333|PMID:22264887|PMID:22888088|PMID:23150612|PMID:23213406|PMID:23372056|PMID:23681342|PMID:24033266|PMID:24489377|PMID:25283059|PMID:25352739|PMID:25356976|PMID:2552515|PMID:25741868|PMID:26197217|PMID:26747767|PMID:26766544|PMID:26872967|PMID:27596865|PMID:27620828|PMID:27995965|PMID:28322733|PMID:28492532|PMID:288634|PMID:28863407|PMID:28912962|PMID:29528978|PMID:29721948|PMID:29785639|PMID:30029497|PMID:30193314|PMID:30543658|PMID:30622176|PMID:30718709|PMID:30887160|PMID:30917587|PMID:30924848|PMID:31054281|PMID:31087526|PMID:31213501|PMID:31456290|PMID:31630094|PMID:31645972|PMID:31804667|PMID:31816670|PMID:31953110|PMID:3200084|PMID:32000842|PMID:32036094|PMID:32037395|PMID:32100970|PMID:3214136|PMID:3253185|PMID:32531858|PMID:32679846|PMID:32702353|PMID:32788070|PMID:32795431|PMID:33090715|PMID:33302505|PMID:33355362|PMID:33467000|PMID:33576794|PMID:33620278|PMID:34327195|PMID:34448047|PMID:34745198|PMID:34828430|PMID:34906470|PMID:349855|PMID:34985506|PMID:35432464|PMID:3580619|PMID:35806195|PMID:36276946|PMID:3646071|PMID:36460718|PMID:36819107|PMID:36996441|PMID:8673101|PMID:8817343|PMID:9326322|PMID:9399904|PMID:9536098|PMID:9855162 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:9001591 Ciliary Motility Disorders ISO RGD:1352855 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia | ClinVar Annotator: match by term: IMMOTILE CILIA SYNDROME PMID:10480356|PMID:10482958|PMID:10737996|PMID:10932196|PMID:10937588|PMID:10946359|PMID:11180598|PMID:11754050|PMID:11793468|PMID:11857109|PMID:11875055|PMID:11992260|PMID:12160730|PMID:12402343|PMID:12657579|PMID:12859409|PMID:14564670|PMID:15734019|PMID:16055928|PMID:16199547|PMID:16387007|PMID:16786505|PMID:16936086|PMID:16969763|PMID:17195164|PMID:17405150|PMID:17480003|PMID:17576681|PMID:17724181|PMID:17898302|PMID:18332319|PMID:18487280|PMID:18552978|PMID:19138872|PMID:19218993|PMID:19475717|PMID:19783189|PMID:19815619|PMID:20631154|PMID:20861475|PMID:21326217|PMID:21857984|PMID:21866333|PMID:22264887|PMID:22382802|PMID:22494545|PMID:22888088|PMID:23150612|PMID:23213406|PMID:23372056|PMID:23591405|PMID:23681342|PMID:23847139|PMID:23950152|PMID:24033266|PMID:25097241|PMID:25356976|PMID:25640679|PMID:25741868|PMID:26261414|PMID:26747767|PMID:26766544|PMID:27620828|PMID:27768226|PMID:28041643|PMID:28127548|PMID:28322733|PMID:28492532|PMID:28559085|PMID:28863407|PMID:28912962|PMID:29276052|PMID:29453956|PMID:29528978|PMID:29555955|PMID:29641573|PMID:29721948|PMID:29785639|PMID:30029497|PMID:30067075|PMID:30105367|PMID:30193314|PMID:30337596|PMID:30543658|PMID:30622176|PMID:30718709|PMID:30902645|PMID:30917587|PMID:30924848|PMID:31054281|PMID:31087526|PMID:31456290|PMID:31630094|PMID:31645972|PMID:31804667|PMID:31953110|PMID:31960602|PMID:32000842|PMID:32037395|PMID:32531858|PMID:32679846|PMID:32702353|PMID:32788070|PMID:32856788|PMID:33090715|PMID:33355362|PMID:33546218|PMID:33576794|PMID:34906470|PMID:34946927|PMID:35892439|PMID:8673101|PMID:8817343|PMID:9326322|PMID:9331262|PMID:9399904|PMID:9536098|PMID:9855162|PMID:9990021 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:9004538 Hearing Loss ISO RGD:1352855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12920075 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:9008680 Respiratory Tract Infections ISO RGD:1352855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12920075 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1352855 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:10946359|PMID:11793468|PMID:16055928|PMID:16786505|PMID:16969763|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:9562 primary ciliary dyskinesia ISO RGD:1352855 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:10480356|PMID:10482958|PMID:10737996|PMID:10932196|PMID:10937588|PMID:10946359|PMID:11180598|PMID:11754050|PMID:11793468|PMID:11857109|PMID:11875055|PMID:11968081|PMID:11992260|PMID:12160730|PMID:12402343|PMID:12657579|PMID:12859409|PMID:14564670|PMID:14691151|PMID:15734019|PMID:16055928|PMID:16199547|PMID:16387007|PMID:16786505|PMID:16936086|PMID:16969763|PMID:17195164|PMID:17405150|PMID:17480003|PMID:17576681|PMID:17724181|PMID:17898302|PMID:18332319|PMID:18487280|PMID:18552978|PMID:19138872|PMID:19218993|PMID:19475717|PMID:19783189|PMID:19815619|PMID:20631154|PMID:20861475|PMID:21326217|PMID:21857984|PMID:21866333|PMID:22264887|PMID:22382802|PMID:22494545|PMID:22888088|PMID:23150612|PMID:23213406|PMID:23372056|PMID:23443027|PMID:23591405|PMID:23681342|PMID:23847139|PMID:23950152|PMID:24033266|PMID:25097241|PMID:25283059|PMID:25352739|PMID:25356976|PMID:25640679|PMID:25741868|PMID:26093275|PMID:26197217|PMID:26261414|PMID:26747767|PMID:26766544|PMID:27596865|PMID:27620828|PMID:27768226|PMID:27995965|PMID:28041643|PMID:28127548|PMID:28157192|PMID:28322733|PMID:28492532|PMID:28559085|PMID:28863407|PMID:28912962|PMID:29276052|PMID:29528978|PMID:29555955|PMID:29641573|PMID:29721948|PMID:29769798|PMID:29785639|PMID:30029497|PMID:30067075|PMID:30105367|PMID:30193314|PMID:30313097|PMID:30337596|PMID:30543658|PMID:30567410|PMID:30622176|PMID:30718709|PMID:30887160|PMID:30902645|PMID:30917587|PMID:30924848|PMID:31054281|PMID:31087526|PMID:31213501|PMID:31456290|PMID:31630094|PMID:31645972|PMID:31652454|PMID:31804667|PMID:31816670|PMID:31953110|PMID:31960602|PMID:32000842|PMID:32036094|PMID:32037395|PMID:32100970|PMID:32326409|PMID:3253185|PMID:32531858|PMID:32679846|PMID:32702353|PMID:32788070|PMID:32795431|PMID:32856788|PMID:33090715|PMID:33302505|PMID:33355362|PMID:33467000|PMID:33546218|PMID:33576794|PMID:33620278|PMID:34327195|PMID:34448047|PMID:34745198|PMID:34828430|PMID:34906470|PMID:34946927|PMID:349855|PMID:34985506|PMID:35119454|PMID:35432464|PMID:35806195|PMID:35836572|PMID:35892439|PMID:36276946|PMID:36284670|PMID:3646071|PMID:36460718|PMID:36464167|PMID:36819107|PMID:36882936|PMID:36909829|PMID:36996441|PMID:8673101|PMID:8817343|PMID:9326322|PMID:9331262|PMID:9399904|PMID:9536098|PMID:9855162|PMID:9990021 8708231 Psph phosphoserine phosphatase gene DOID:0050724 PSPH deficiency ISO RGD:1318726 D RGD:7240710 20180130 OMIM 8708231 Psph phosphoserine phosphatase gene DOID:0050724 PSPH deficiency ISO RGD:1318726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: PSPH deficiency | ClinVar Annotator: match by term: Phosphoserine phosphatase deficiency PMID:14673469|PMID:16199547|PMID:17576681|PMID:24146633|PMID:25080166|PMID:25741868|PMID:26589312|PMID:26633542|PMID:28492532|PMID:31515488|PMID:9222972|PMID:9536098 8708231 Psph phosphoserine phosphatase gene DOID:12849 autistic disorder ISO RGD:1318726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8708231 Psph phosphoserine phosphatase gene DOID:1826 epilepsy ISO RGD:1318726 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizures 8708231 Psph phosphoserine phosphatase gene DOID:2187 amelogenesis imperfecta ISO RGD:1318726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital enamel hypoplasia PMID:28492532 8708231 Psph phosphoserine phosphatase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1318726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8708231 Psph phosphoserine phosphatase gene DOID:630 genetic disease ISO RGD:1318726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:28492532|PMID:9536098 8708231 Psph phosphoserine phosphatase gene DOID:9008397 Maternal Phenylketonuria ISO RGD:1308764 D RGD:9068941 20200609 RGD PMID:7201630|REF_RGD_ID:2308873 8708231 Psph phosphoserine phosphatase gene DOID:9252 amino acid metabolic disorder ISO RGD:1318726 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14673469 8708247 Rgl3 ral guanine nucleotide dissociation stimulator like 3 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1320262 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 8708247 Rgl3 ral guanine nucleotide dissociation stimulator like 3 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1320262 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 8708247 Rgl3 ral guanine nucleotide dissociation stimulator like 3 gene DOID:0111254 glutaric acidemia I ISO RGD:1320262 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 8708247 Rgl3 ral guanine nucleotide dissociation stimulator like 3 gene DOID:3413 alpha-mannosidosis ISO RGD:1320262 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 8708275 Ubr7 ubiquitin protein ligase E3 component n-recognin 7 gene DOID:0080054 achondrogenesis type IA ISO RGD:1344986 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 8708275 Ubr7 ubiquitin protein ligase E3 component n-recognin 7 gene DOID:0081063 DICER1 syndrome ISO RGD:1344986 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:26545620|PMID:26555935|PMID:28492532 8708275 Ubr7 ubiquitin protein ligase E3 component n-recognin 7 gene DOID:1059 intellectual disability ISO RGD:1344986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 8708275 Ubr7 ubiquitin protein ligase E3 component n-recognin 7 gene DOID:2843 long QT syndrome ISO RGD:1344986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 8708275 Ubr7 ubiquitin protein ligase E3 component n-recognin 7 gene DOID:4769 pleuropulmonary blastoma ISO RGD:1344986 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome PMID:26545620|PMID:26555935|PMID:28492532 8708275 Ubr7 ubiquitin protein ligase E3 component n-recognin 7 gene DOID:9003293 Li-Campeau Syndrome ISO RGD:1344986 D RGD:7240710 20210303 OMIM 8708275 Ubr7 ubiquitin protein ligase E3 component n-recognin 7 gene DOID:9003293 Li-Campeau Syndrome ISO RGD:1344986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Li-Campeau syndrome PMID:25741868|PMID:33340455 8708275 Ubr7 ubiquitin protein ligase E3 component n-recognin 7 gene DOID:9008086 Developmental Disabilities ISO RGD:1344986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 8708291 Dpp7 dipeptidyl peptidase 7 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:733882 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 8708291 Dpp7 dipeptidyl peptidase 7 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:733882 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 8708291 Dpp7 dipeptidyl peptidase 7 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:733882 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 8708291 Dpp7 dipeptidyl peptidase 7 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:733882 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8708291 Dpp7 dipeptidyl peptidase 7 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:733882 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 8708291 Dpp7 dipeptidyl peptidase 7 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:733882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 8708291 Dpp7 dipeptidyl peptidase 7 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:733882 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 8708291 Dpp7 dipeptidyl peptidase 7 gene DOID:0081097 Rafiq syndrome ISO RGD:733882 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 8708291 Dpp7 dipeptidyl peptidase 7 gene DOID:0110980 Joubert syndrome 1 ISO RGD:733882 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8708291 Dpp7 dipeptidyl peptidase 7 gene DOID:1826 epilepsy ISO RGD:733882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8708291 Dpp7 dipeptidyl peptidase 7 gene DOID:3652 Leigh disease ISO RGD:733882 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 8708291 Dpp7 dipeptidyl peptidase 7 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733882 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8708291 Dpp7 dipeptidyl peptidase 7 gene DOID:9005749 Necrosis ISO RGD:733882 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16725115 8708291 Dpp7 dipeptidyl peptidase 7 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:733882 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8708307 BARHL2 BarH like homeobox 2 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:1344726 D RGD:9068941 20200609 RGD protein:decreased expression:mouth mucosa PMID:27542258|REF_RGD_ID:14390167 8708307 Barhl2 BarH like homeobox 2 gene DOID:10534 stomach cancer treatment ISO RGD:1344726 D RGD:9068941 20200609 RGD PMID:27441821|REF_RGD_ID:14392685 8708307 Barhl2 BarH like homeobox 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1344726 D RGD:9068941 20200609 RGD associated with oral squamous cell carcinoma; mRNA:decreased expression:mouth mucosa PMID:27542258|REF_RGD_ID:14390167 8708307 Barhl2 BarH like homeobox 2 gene DOID:9256 colorectal cancer severity ISO RGD:1344726 D RGD:9068941 20200609 RGD PMID:27453340|REF_RGD_ID:14392684 8708318 Hnrnpdl heterogeneous nuclear ribonucleoprotein D like gene DOID:0060420 chromosome 4q21 deletion syndrome ISO RGD:1320569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome 8708318 Hnrnpdl heterogeneous nuclear ribonucleoprotein D like gene DOID:0110306 autosomal dominant limb-girdle muscular dystrophy type 3 ISO RGD:1320569 D RGD:7240710 20180130 OMIM 8708318 Hnrnpdl heterogeneous nuclear ribonucleoprotein D like gene DOID:0110306 autosomal dominant limb-girdle muscular dystrophy type 3 ISO RGD:1320569 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1G | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1G PMID:15367920|PMID:17576681|PMID:24647604|PMID:25741868|PMID:28492532|PMID:30604053|PMID:31267206|PMID:32528171|PMID:33131168|PMID:36575883|PMID:9536098 8708340 Pcca propionyl-CoA carboxylase subunit alpha gene DOID:0060270 pontocerebellar hypoplasia type 2D ISO RGD:736733 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 2D PMID:22156789|PMID:25741868|PMID:28492532|PMID:30274917|PMID:30705822 8708340 Pcca propionyl-CoA carboxylase subunit alpha gene DOID:0110878 holoprosencephaly 5 ISO RGD:736733 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19177455|PMID:19955556|PMID:28492532|PMID:29770992 8708340 Pcca propionyl-CoA carboxylase subunit alpha gene DOID:14701 propionic acidemia ISO RGD:736733 D RGD:7240710 20180130 OMIM 8708340 Pcca propionyl-CoA carboxylase subunit alpha gene DOID:14701 propionic acidemia ISO RGD:736733 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:10101253|PMID:10329019|PMID:10518292|PMID:10780784|PMID:11592820|PMID:12385775|PMID:12559849|PMID:15059621|PMID:15164333|PMID:15235904|PMID:15464417|PMID:16023992|PMID:16199547|PMID:17051315|PMID:17576681|PMID:17966092|PMID:18414145|PMID:18790721|PMID:19099776|PMID:19157943|PMID:2037281|PMID:20493181|PMID:20549364|PMID:20725044|PMID:21094621|PMID:22033733|PMID:22156789|PMID:22334403|PMID:22593918|PMID:23053474|PMID:23348723|PMID:23430860|PMID:23648696|PMID:23757202|PMID:24033266|PMID:24059531|PMID:24464666|PMID:24863100|PMID:25047749|PMID:25636094|PMID:25640679|PMID:25741868|PMID:26740382|PMID:27227689|PMID:27489777|PMID:27776753|PMID:27825584|PMID:27900673|PMID:28492532|PMID:28712602|PMID:28853722|PMID:29033250|PMID:29978829|PMID:30159853|PMID:30186825|PMID:30209273|PMID:30274917|PMID:30705822|PMID:31063319|PMID:31249402|PMID:31319225|PMID:31462756|PMID:31757659|PMID:31828787|PMID:31893529|PMID:31916709|PMID:32252659|PMID:32619257|PMID:32778825|PMID:32819290|PMID:33028371|PMID:33473339|PMID:33552909|PMID:33726816|PMID:33923806|PMID:35095998|PMID:35331292|PMID:36274442|PMID:36662638|PMID:37482098|PMID:6790853|PMID:7915138|PMID:8083196|PMID:9385377|PMID:9536098|PMID:9887338 8708340 Pcca propionyl-CoA carboxylase subunit alpha gene DOID:4621 holoprosencephaly ISO RGD:736733 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lobar holoprosencephaly 8708340 Pcca propionyl-CoA carboxylase subunit alpha gene DOID:630 genetic disease ISO RGD:736733 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15164333|PMID:15464417|PMID:16199547|PMID:23430860|PMID:25741868|PMID:27227689|PMID:28492532 8708340 Pcca propionyl-CoA carboxylase subunit alpha gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:736733 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 8708340 Pcca propionyl-CoA carboxylase subunit alpha gene DOID:9252 amino acid metabolic disorder ISO RGD:736733 D RGD:9068941 20200609 RGD propionic acidemia, OMIM:606054, DNA:deletion:intron:1824delAAGT PMID:9385377|REF_RGD_ID:1600306 8708382 Thap1 THAP domain containing 1 gene DOID:0090039 torsion dystonia 6 ISO RGD:1316870 D RGD:7240710 20180130 OMIM 8708382 Thap1 THAP domain containing 1 gene DOID:0090039 torsion dystonia 6 ISO RGD:1316870 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Torsion dystonia 6 PMID:17576681|PMID:19182804|PMID:19345147|PMID:19345148|PMID:19763152|PMID:19908320|PMID:20083799|PMID:20211909|PMID:20307669|PMID:20669277|PMID:20687191|PMID:20687193|PMID:20865765|PMID:20925076|PMID:21495072|PMID:21520283|PMID:21752024|PMID:21782490|PMID:21793105|PMID:21839475|PMID:21847143|PMID:22377579|PMID:22406018|PMID:22844099|PMID:22903657|PMID:23036512|PMID:23180184|PMID:24500857|PMID:24757586|PMID:24936516|PMID:24976531|PMID:25088175|PMID:25741868|PMID:26087139|PMID:26467025|PMID:26486352|PMID:26506956|PMID:26610312|PMID:26944167|PMID:27123488|PMID:27913194|PMID:28492532|PMID:28697333|PMID:29520331|PMID:31153764|PMID:31817799|PMID:32112337|PMID:33144682|PMID:33175450|PMID:33369735|PMID:33949708|PMID:34686877|PMID:37481223|PMID:9536098 8708382 Thap1 THAP domain containing 1 gene DOID:0111235 congenital muscular dystrophy-dystroglycanopathy type A12 ISO RGD:1316870 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 PMID:28492532 8708382 Thap1 THAP domain containing 1 gene DOID:0111959 immunodeficiency 15B ISO RGD:1316870 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B PMID:28492532 8708382 Thap1 THAP domain containing 1 gene DOID:543 dystonia ISO RGD:1316870 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 8708382 Thap1 THAP domain containing 1 gene DOID:630 genetic disease ISO RGD:1316870 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20211909|PMID:22903657|PMID:24757586|PMID:25741868|PMID:26467025|PMID:28492532 8708382 Thap1 THAP domain containing 1 gene DOID:9007546 Idiopathic Basal Ganglia Calcification 1 ISO RGD:1316870 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 PMID:27726124 8708382 Thap1 THAP domain containing 1 gene DOID:9008991 IMMUNODEFICIENCY 15 ISO RGD:1316870 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 15 PMID:28492532 8708382 Thap1 THAP domain containing 1 gene DOID:9009165 Multiple mitochondrial dysfunctions syndrome 9B ISO RGD:1316870 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 9b PMID:26467025|PMID:28492532|PMID:37481223 8708389 Slc35g6 solute carrier family 35 member G6 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1345092 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 8708389 Slc35g6 solute carrier family 35 member G6 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1345092 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 8708389 Slc35g6 solute carrier family 35 member G6 gene DOID:1059 intellectual disability ISO RGD:1345092 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 8708389 Slc35g6 solute carrier family 35 member G6 gene DOID:12177 common variable immunodeficiency ISO RGD:1345092 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:28492532 8708389 Slc35g6 solute carrier family 35 member G6 gene DOID:2729 dyskeratosis congenita ISO RGD:1345092 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 8708389 Slc35g6 solute carrier family 35 member G6 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1345092 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 8708389 Slc35g6 solute carrier family 35 member G6 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1345092 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 8708397 Coil coilin gene DOID:0110980 Joubert syndrome 1 ISO RGD:735624 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 8708397 Coil coilin gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:735624 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 PMID:38922859 8708415 Pmvk phosphomevalonate kinase gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1321931 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 8708415 Pmvk phosphomevalonate kinase gene DOID:0111940 immunodeficiency 42 ISO RGD:1321931 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8708415 Pmvk phosphomevalonate kinase gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1321931 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8708415 Pmvk phosphomevalonate kinase gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1321931 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8708415 Pmvk phosphomevalonate kinase gene DOID:1540 parathyroid carcinoma ISO RGD:1321931 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8708415 Pmvk phosphomevalonate kinase gene DOID:3805 porokeratosis ISO RGD:1321931 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Linear porokeratosis PMID:25741868|PMID:30942823 8708415 Pmvk phosphomevalonate kinase gene DOID:5812 MHC class II deficiency ISO RGD:1321931 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8708415 Pmvk phosphomevalonate kinase gene DOID:630 genetic disease ISO RGD:1321931 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8708415 Pmvk phosphomevalonate kinase gene DOID:9007627 Porokeratosis 1, Multiple Types ISO RGD:1321931 D RGD:7240710 20180130 OMIM 8708415 Pmvk phosphomevalonate kinase gene DOID:9007627 Porokeratosis 1, Multiple Types ISO RGD:1321931 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: PMVK-related condition | ClinVar Annotator: match by term: Porokeratosis 1, multiple types PMID:25741868|PMID:26202976|PMID:30942823 8708415 Pmvk phosphomevalonate kinase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321931 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8708424 Wdr76 WD repeat domain 76 gene DOID:2717 Bloom syndrome ISO RGD:1605336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8708424 Wdr76 WD repeat domain 76 gene DOID:684 hepatocellular carcinoma ISO RGD:1605336 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8708424 Wdr76 WD repeat domain 76 gene DOID:9256 colorectal cancer ISO RGD:1605336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8708441 Ccdc33 coiled-coil domain containing 33 gene DOID:0080519 PAPA syndrome ISO RGD:1602211 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: PAPA SYNDROME PMID:28492532 8708441 Ccdc33 coiled-coil domain containing 33 gene DOID:0110225 Brugada syndrome 8 ISO RGD:1602211 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Brugada syndrome 8 PMID:28492532 8708441 Ccdc33 coiled-coil domain containing 33 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1602211 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 8708441 Ccdc33 coiled-coil domain containing 33 gene DOID:2717 Bloom syndrome ISO RGD:1602211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8708441 Ccdc33 coiled-coil domain containing 33 gene DOID:5419 schizophrenia ISO RGD:1602211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8708441 Ccdc33 coiled-coil domain containing 33 gene DOID:630 genetic disease ISO RGD:1602211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8708441 Ccdc33 coiled-coil domain containing 33 gene DOID:9256 colorectal cancer ISO RGD:1602211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8708520 Slain1 SLAIN motif family member 1 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1603921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 8708520 Slain1 SLAIN motif family member 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1603921 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:10528251|PMID:20127975|PMID:20157158|PMID:22589734|PMID:28492532|PMID:30394532|PMID:31406620|PMID:32393339|PMID:8001159 8708539 Tex13b testis expressed 13B gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:1347068 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:24528855|PMID:28492532 8708539 Tex13b testis expressed 13B gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8708539 Tex13b testis expressed 13B gene DOID:0111823 autosomal hemophilia A ISO RGD:1347068 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A PMID:31690835 8708539 Tex13b testis expressed 13B gene DOID:12134 factor VIII deficiency ISO RGD:1347068 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Factor 8 deficiency, congenital PMID:31690835 8708539 Tex13b testis expressed 13B gene DOID:12849 autistic disorder ISO RGD:1347068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8708601 Jade2 jade family PHD finger 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1319333 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8708601 Jade2 jade family PHD finger 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1319333 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 8708601 Jade2 jade family PHD finger 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8708601 Jade2 jade family PHD finger 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319333 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8708601 Jade2 jade family PHD finger 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1319333 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 8708639 Tubb1 tubulin beta 1 class VI gene DOID:0050328 congenital hypothyroidism ISO RGD:1345439 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Congenital hypothyroidism PMID:25741868|PMID:28492532|PMID:28983057|PMID:30446499|PMID:32757236|PMID:34516618|PMID:34662886|PMID:36107810|PMID:37647632 8708639 Tubb1 tubulin beta 1 class VI gene DOID:0050752 amyotrophic lateral sclerosis type 8 ISO RGD:1345439 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 PMID:28492532 8708639 Tubb1 tubulin beta 1 class VI gene DOID:0060651 MYH-9 related disease ISO RGD:1345439 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss PMID:25741868 8708639 Tubb1 tubulin beta 1 class VI gene DOID:0090102 autosomal dominant isolated macrothrombocytopenia 1 ISO RGD:1345439 D RGD:7240710 20180130 OMIM 8708639 Tubb1 tubulin beta 1 class VI gene DOID:0090102 autosomal dominant isolated macrothrombocytopenia 1 ISO RGD:1345439 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Macrothrombocytopenia, isolated, 1, autosomal dominant | ClinVar Annotator: match by term: TUBB1-related condition PMID:18849486|PMID:24344610|PMID:24777453|PMID:25741868|PMID:27346686|PMID:27479822|PMID:27905099|PMID:28054583|PMID:28492532|PMID:28983057|PMID:30446499|PMID:31064749|PMID:31249973|PMID:31565851|PMID:32757236|PMID:32892537|PMID:33327716|PMID:33400601|PMID:34355501|PMID:34516618|PMID:34662886|PMID:37792884|PMID:4516618 8708639 Tubb1 tubulin beta 1 class VI gene DOID:1588 thrombocytopenia ISO RGD:1345439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:24777453|PMID:25741868|PMID:27346686|PMID:28054583|PMID:28492532|PMID:31064749|PMID:31249973|PMID:32757236|PMID:34516618 8708639 Tubb1 tubulin beta 1 class VI gene DOID:2213 hemorrhagic disease ISO RGD:1345439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:18849486|PMID:25741868|PMID:27479822|PMID:28492532|PMID:32892537|PMID:32935436|PMID:33400601 8708639 Tubb1 tubulin beta 1 class VI gene DOID:630 genetic disease ISO RGD:1345439 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8708639 Tubb1 tubulin beta 1 class VI gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1345439 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21751358 8708647 Gda guanine deaminase gene DOID:10534 stomach cancer ISO RGD:734048 D RGD:9068941 20220616 RGD protein:increased expression:stomach: PMID:8076377|REF_RGD_ID:152995290 8708647 Gda guanine deaminase gene DOID:305 carcinoma ISO RGD:734048 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8708647 Gda guanine deaminase gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:734048 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8708647 Gda guanine deaminase gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:734048 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8708647 Gda guanine deaminase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:734048 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 8708675 Ttc6 tetratricopeptide repeat domain 6 gene DOID:0050778 Meckel syndrome ISO RGD:1323287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome 8708675 Ttc6 tetratricopeptide repeat domain 6 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1323287 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8708707 Ears2 glutamyl-tRNA synthetase 2, mitochondrial gene DOID:0060286 combined oxidative phosphorylation deficiency ISO RGD:1604541 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency PMID:28492532 8708707 Ears2 glutamyl-tRNA synthetase 2, mitochondrial gene DOID:0070257 congenital disorder of glycosylation type IIe ISO RGD:1604541 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: COG7 congenital disorder of glycosylation PMID:28492532 8708707 Ears2 glutamyl-tRNA synthetase 2, mitochondrial gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1604541 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:28492532|PMID:31680123 8708707 Ears2 glutamyl-tRNA synthetase 2, mitochondrial gene DOID:0111493 combined oxidative phosphorylation deficiency 12 ISO RGD:1604541 D RGD:7240710 20180130 OMIM 8708707 Ears2 glutamyl-tRNA synthetase 2, mitochondrial gene DOID:0111493 combined oxidative phosphorylation deficiency 12 ISO RGD:1604541 D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: EARS2-related condition | ClinVar Annotator: match by term: Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome PMID:17576681|PMID:22492562|PMID:23008233|PMID:24706556|PMID:25058219|PMID:25476837|PMID:25741868|PMID:26741492|PMID:26780086|PMID:26893310|PMID:27117034|PMID:27290639|PMID:28492532|PMID:28748214|PMID:28748215|PMID:28973083|PMID:30831263|PMID:31520968|PMID:31665838|PMID:31980526|PMID:32887222|PMID:33128823|PMID:33258288|PMID:33855712|PMID:33962821|PMID:33972171|PMID:34018027|PMID:34440436|PMID:36349561|PMID:37377599|PMID:9536098 8708707 Ears2 glutamyl-tRNA synthetase 2, mitochondrial gene DOID:630 genetic disease ISO RGD:1604541 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22492562|PMID:25058219|PMID:25476837|PMID:25741868|PMID:26780086|PMID:26893310|PMID:27290639|PMID:28492532|PMID:28748214|PMID:28748215|PMID:31520968|PMID:31980526|PMID:33128823|PMID:33962821|PMID:34018027 8708707 Ears2 glutamyl-tRNA synthetase 2, mitochondrial gene DOID:9008086 Developmental Disabilities ISO RGD:1604541 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:22492562|PMID:25058219|PMID:25741868|PMID:26893310|PMID:28492532 8708735 Cep63 centrosomal protein 63 gene DOID:0050569 Seckel syndrome ISO RGD:1617588 D RGD:9068941 20220825 MouseDO 8708735 Cep63 centrosomal protein 63 gene DOID:0070006 Seckel syndrome 6 ISO RGD:1602096 D RGD:7240710 20180130 OMIM 8708735 Cep63 centrosomal protein 63 gene DOID:0070006 Seckel syndrome 6 ISO RGD:1602096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CEP63-related condition | ClinVar Annotator: match by term: Seckel syndrome 6 PMID:16199547|PMID:21983783|PMID:23936128|PMID:25741868|PMID:26158450|PMID:28492532 8708735 Cep63 centrosomal protein 63 gene DOID:0080098 myofibrillar myopathy 7 ISO RGD:1602096 D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: KY-related condition | ClinVar Annotator: match by term: Myofibrillar myopathy 7 PMID:25741868|PMID:27484770|PMID:27485408|PMID:28492532|PMID:30591934 8708735 Cep63 centrosomal protein 63 gene DOID:10907 microcephaly ISO RGD:1602096 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21983783 8708735 Cep63 centrosomal protein 63 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1602096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:28488683 8708735 Cep63 centrosomal protein 63 gene DOID:630 genetic disease ISO RGD:1602096 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:21983783|PMID:23936128|PMID:25741868|PMID:26158450|PMID:28492532 8708735 Cep63 centrosomal protein 63 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1602096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 8708772 Amotl1 angiomotin like 1 gene DOID:1059 intellectual disability ISO RGD:1313196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8708772 Amotl1 angiomotin like 1 gene DOID:12704 ataxia telangiectasia ISO RGD:1313196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 8708772 Amotl1 angiomotin like 1 gene DOID:3070 high grade glioma ISO RGD:1313196 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34480788 8708772 Amotl1 angiomotin like 1 gene DOID:9000918 Disease Progression ISO RGD:1313196 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34480788 8708772 Amotl1 angiomotin like 1 gene DOID:9003133 Hypertelorism ISO RGD:1313196 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:25741868|PMID:28492532|PMID:33026150|PMID:36751037 8708772 Amotl1 angiomotin like 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1313196 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34480788 8708813 Gml glycosylphosphatidylinositol anchored molecule like gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1317284 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:28492532 8708813 Gml glycosylphosphatidylinositol anchored molecule like gene DOID:12849 autistic disorder ISO RGD:1317284 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868 8708813 Gml glycosylphosphatidylinositol anchored molecule like gene DOID:4621 holoprosencephaly ISO RGD:1317284 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 8708813 Gml glycosylphosphatidylinositol anchored molecule like gene DOID:9003884 Recombinant Chromosome 8 Syndrome ISO RGD:1317284 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Recombinant 8 syndrome PMID:31690835 8708824 Itm2c integral membrane protein 2C gene DOID:0060476 Perlman syndrome ISO RGD:1319877 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 8708824 Itm2c integral membrane protein 2C gene DOID:0110991 Joubert syndrome 22 ISO RGD:1319877 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 8708842 Pecr peroxisomal trans-2-enoyl-CoA reductase gene DOID:1059 intellectual disability ISO RGD:1603637 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 8708842 Pecr peroxisomal trans-2-enoyl-CoA reductase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8708855 Actl10 actin like 10 gene DOID:0080699 glutathione synthetase deficiency ISO RGD:1346529 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: PYROGLUTAMIC ACIDURIA PMID:12638941|PMID:15717202|PMID:28492532 8708855 Actl10 actin like 10 gene DOID:0081034 glutatione synthetase deficiency with 5-oxoprolinuria ISO RGD:1346529 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: 5-OXOPROLINURIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY PMID:12638941|PMID:15717202|PMID:28492532 8708855 Actl10 actin like 10 gene DOID:0111039 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ISO RGD:1346529 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase PMID:15024124|PMID:20852937|PMID:28492532 8708855 Actl10 actin like 10 gene DOID:2843 long QT syndrome ISO RGD:1346529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 8708859 Emid1 EMI domain containing 1 gene DOID:0111252 vestibular schwannomatosis ISO RGD:1349411 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:19968670|PMID:28492532|PMID:9643284|PMID:9817927 8708859 Emid1 EMI domain containing 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1349411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:16551709|PMID:17085682|PMID:21876083|PMID:24713400|PMID:24763289|PMID:28492532 8708903 Ndst4 N-deacetylase and N-sulfotransferase 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1315201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29662167 8708921 Polq DNA polymerase theta gene DOID:0080600 COVID-19 ISO RGD:1320324 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8708921 Polq DNA polymerase theta gene DOID:3307 teratoma ISO RGD:1320324 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 8708921 Polq DNA polymerase theta gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1320324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast and ovarian cancer PMID:25741868 8708921 Polq DNA polymerase theta gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1320324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 8708921 Polq DNA polymerase theta gene DOID:9270 alkaptonuria ISO RGD:1320324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 8708960 ATM ATM serine/threonine kinase gene DOID:1612 breast cancer susceptibility ISO RGD:1606040 D RGD:9068941 20250313 RGD PMID:11200774|REF_RGD_ID:1643350 8708960 Atm ATM serine/threonine kinase gene DOID:0040084 Streptococcus pneumonia exacerbates ISO RGD:10199 D RGD:9068941 20210409 RGD PMID:27421701|REF_RGD_ID:126779562 8708960 Atm ATM serine/threonine kinase gene DOID:0050671 female breast cancer susceptibility ISO RGD:1606040 D RGD:9068941 20220609 RGD DNA:missense mutation:cds: (human) PMID:30303537|REF_RGD_ID:152995259 8708960 Atm ATM serine/threonine kinase gene DOID:0050746 mantle cell lymphoma ISO RGD:1606040 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Mantle cell lymphoma PMID:10706620|PMID:23807571|PMID:25614872|PMID:28492532 8708960 Atm ATM serine/threonine kinase gene DOID:0050749 peripheral T-cell lymphoma ISO RGD:1606040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24413734 8708960 Atm ATM serine/threonine kinase gene DOID:0050753 cerebellar ataxia ISO RGD:1606040 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:12810666|PMID:23807571|PMID:25614872|PMID:25741868|PMID:28488180|PMID:28492532|PMID:29909963|PMID:31050087|PMID:33547824|PMID:34628594|PMID:9887333 8708960 Atm ATM serine/threonine kinase gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:1606040 D RGD:9068941 20210903 RGD protein:increased expression:mucosa of oral region (human) PMID:18288488|PMID:29928356|REF_RGD_ID:150340604|REF_RGD_ID:150340709 8708960 Atm ATM serine/threonine kinase gene DOID:0050880 Koolen de Vries syndrome ISO RGD:1606040 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Koolen-de Vries syndrome PMID:10817650|PMID:12815592|PMID:16238588|PMID:17124347|PMID:19691550|PMID:19779456|PMID:20840352|PMID:21445571|PMID:21933854|PMID:23322442|PMID:23774824|PMID:25741868|PMID:26467025|PMID:26898890|PMID:27664052|PMID:28492532|PMID:28779002|PMID:29625052|PMID:29915322|PMID:30339652|PMID:30772474|PMID:31159747|PMID:31285527|PMID:36703223|PMID:9043869 8708960 Atm ATM serine/threonine kinase gene DOID:0060058 lymphoma ISO RGD:1593265 D RGD:9068941 20200609 RGD DNA:deletion:exon: PMID:28007901|REF_RGD_ID:12879399 8708960 Atm ATM serine/threonine kinase gene DOID:0060058 lymphoma ISO RGD:1593265 D RGD:9068941 20200609 RGD DNA:missense mutation:cds: PMID:27895165|REF_RGD_ID:12879393 8708960 Atm ATM serine/threonine kinase gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:1606040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 8708960 Atm ATM serine/threonine kinase gene DOID:0060071 pre-malignant neoplasm ISO RGD:1593265 D RGD:9068941 20200609 RGD protein:decreased expression:hepatocyte PMID:11751435|REF_RGD_ID:1599367 8708960 Atm ATM serine/threonine kinase gene DOID:0060852 Pierson syndrome ISO RGD:1606040 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: MICROCORIA-CONGENITAL NEPHROTIC SYNDROME PMID:10234507|PMID:10330348|PMID:11382771|PMID:15174027|PMID:19781682|PMID:19823873|PMID:21792198|PMID:25040471|PMID:25741868|PMID:26896183|PMID:28008555|PMID:28492532|PMID:30549301|PMID:32255556|PMID:581456|PMID:8755819|PMID:8755918|PMID:8808599|PMID:9463314 8708960 Atm ATM serine/threonine kinase gene DOID:0070271 Lynch syndrome 1 ISO RGD:1606040 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 PMID:25741868 8708960 Atm ATM serine/threonine kinase gene DOID:0070614 chromosome 11 partial duplication syndrome ISO RGD:1606040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8708960 Atm ATM serine/threonine kinase gene DOID:0080158 herpes simplex virus keratitis ameliorates ISO RGD:10199 D RGD:9068941 20210416 RGD PMID:24370835|REF_RGD_ID:126781690 8708960 Atm ATM serine/threonine kinase gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1606040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 8708960 Atm ATM serine/threonine kinase gene DOID:0080875 IDH-mutant anaplastic astrocytoma ISO RGD:1606040 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Astrocytoma IDH-mutant PMID:19404735|PMID:19781682|PMID:20305132|PMID:23555315|PMID:25085752|PMID:25186627|PMID:25503501|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26901136|PMID:28135145|PMID:28492532|PMID:28652578|PMID:28717660|PMID:28779002|PMID:29659569|PMID:30256826|PMID:30303537|PMID:30613976|PMID:31159747|PMID:31742824|PMID:32113160|PMID:32522261|PMID:33471991|PMID:34262154|PMID:34326862|PMID:34646395|PMID:35264596|PMID:36099812|PMID:36243179|PMID:37262986 8708960 Atm ATM serine/threonine kinase gene DOID:0080904 astroblastoma, MN1-altered ISO RGD:1606040 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Astroblastoma, MN1-altered PMID:17344846|PMID:20305132|PMID:25741868|PMID:25980754|PMID:26206375|PMID:26467025|PMID:26689913|PMID:26787654|PMID:28135145|PMID:28492532|PMID:28652578|PMID:28779002|PMID:30306255|PMID:30441849|PMID:31159747|PMID:31920950|PMID:32606146|PMID:33471991|PMID:34284872|PMID:35886069 8708960 Atm ATM serine/threonine kinase gene DOID:0081042 T-cell prolymphocytic leukemia ISO RGD:1606040 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: T-cell prolymphocytic leukemia PMID:10817650|PMID:11382771|PMID:11805335|PMID:11830610|PMID:12072552|PMID:12195425|PMID:12552559|PMID:12969974|PMID:14562025|PMID:16652348|PMID:16832357|PMID:16958054|PMID:17001622|PMID:18575927|PMID:18634022|PMID:19431188|PMID:19781682|PMID:20301790|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21933854|PMID:22529920|PMID:22585167|PMID:22649200|PMID:23807571|PMID:24088041|PMID:24733792|PMID:25186627|PMID:25614872|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26633545|PMID:26662178|PMID:26681312|PMID:27528516|PMID:27595995|PMID:27798748|PMID:27884168|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28492532|PMID:28779002|PMID:28873162|PMID:29719442|PMID:29915382|PMID:29958926|PMID:30549301|PMID:31447099|PMID:31948886|PMID:32338768|PMID:32427313|PMID:32748564|PMID:32853339|PMID:33436325|PMID:33439686|PMID:33471991|PMID:33509806|PMID:34117267|PMID:36094610|PMID:6504056|PMID:7792600|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9150358|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9463314|PMID:9537233|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:0110636 congenital merosin-deficient muscular dystrophy 1A ISO RGD:1606040 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Congenital merosin-deficient muscular dystrophy 1A PMID:21665257|PMID:24448499|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26689913|PMID:27067391|PMID:27854218|PMID:28051113|PMID:28135145|PMID:28492532|PMID:28843361|PMID:29752822|PMID:32365829|PMID:32986223|PMID:33128190|PMID:33280026|PMID:33436325|PMID:33471991|PMID:33606809|PMID:35264596|PMID:35534704|PMID:35957908 8708960 Atm ATM serine/threonine kinase gene DOID:0111765 X-linked cardiac valvular dysplasia ISO RGD:1606040 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Cardiac valvular dysplasia, X-linked PMID:10330348|PMID:12815592|PMID:19691550|PMID:21665257|PMID:23807571|PMID:25614872|PMID:25741868|PMID:28492532|PMID:39825153 8708960 Atm ATM serine/threonine kinase gene DOID:10017 multiple endocrine neoplasia type 1 ISO RGD:1606040 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 PMID:25741868 8708960 Atm ATM serine/threonine kinase gene DOID:10283 prostate cancer ISO RGD:1606040 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23807571|PMID:25614872|PMID:25741868|PMID:28492532 8708960 Atm ATM serine/threonine kinase gene DOID:10534 stomach cancer ISO RGD:1606040 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10706620|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11298136|PMID:11756177|PMID:12072877|PMID:12149228|PMID:12552559|PMID:12552566|PMID:12673797|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:15039971|PMID:15101044|PMID:15164409|PMID:15196260|PMID:15390180|PMID:15843990|PMID:15928302|PMID:16199547|PMID:16266405|PMID:16941484|PMID:17124347|PMID:17376192|PMID:17576681|PMID:17910737|PMID:17968022|PMID:18321536|PMID:18431795|PMID:18560558|PMID:18573109|PMID:18634022|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19691550|PMID:19781682|PMID:20153123|PMID:20301790|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21792198|PMID:21933854|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22130802|PMID:22213089|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22649200|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23561644|PMID:23566627|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23807571|PMID:24172824|PMID:24368146|PMID:24405665|PMID:24584352|PMID:24763289|PMID:24789685|PMID:24935205|PMID:24954719|PMID:25037873|PMID:25040471|PMID:25077176|PMID:25122203|PMID:25186627|PMID:25303977|PMID:25374739|PMID:25479140|PMID:25525159|PMID:25614872|PMID:25625042|PMID:25741868|PMID:26022348|PMID:26094658|PMID:26098866|PMID:26270727|PMID:26439923|PMID:26467025|PMID:26506520|PMID:26536348|PMID:26628246|PMID:26677768|PMID:26681312|PMID:26846839|PMID:26896183|PMID:27121310|PMID:27159176|PMID:27433846|PMID:27664052|PMID:27714650|PMID:27732944|PMID:27779110|PMID:27884168|PMID:27913932|PMID:27989354|PMID:28126470|PMID:28139868|PMID:28152038|PMID:28195393|PMID:28281021|PMID:28492532|PMID:28497333|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28843361|PMID:29368341|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29731985|PMID:29752822|PMID:29906526|PMID:29909963|PMID:29922827|PMID:29946849|PMID:30093976|PMID:30128536|PMID:30159786|PMID:30287823|PMID:30322717|PMID:30338439|PMID:30402232|PMID:30426508|PMID:30549301|PMID:30607632|PMID:30620386|PMID:30697212|PMID:30772474|PMID:30816533|PMID:30982232|PMID:31012270|PMID:31050087|PMID:31118792|PMID:31139954|PMID:31214711|PMID:31263571|PMID:31341520|PMID:31382929|PMID:31447099|PMID:31472684|PMID:31589614|PMID:31611883|PMID:31691010|PMID:31784493|PMID:31794323|PMID:31811167|PMID:31843900|PMID:31882575|PMID:31921190|PMID:31948886|PMID:32002120|PMID:32068069|PMID:32091409|PMID:32183364|PMID:32338768|PMID:32427313|PMID:32471518|PMID:32521533|PMID:32566746|PMID:32694154|PMID:32754152|PMID:32810930|PMID:32853339|PMID:32885271|PMID:32918381|PMID:32957588|PMID:32962506|PMID:32980694|PMID:33239428|PMID:33280026|PMID:33436325|PMID:33471991|PMID:33552952|PMID:34247626|PMID:34377931|PMID:34680501|PMID:34755017|PMID:34873480|PMID:34949663|PMID:35171259|PMID:35220195|PMID:35260754|PMID:35264596|PMID:35886069|PMID:36029002|PMID:36704080|PMID:36988593|PMID:37239058|PMID:37445923|PMID:38355628|PMID:7792600|PMID:8698354|PMID:8755918|PMID:8808599|PMID:8845835|PMID:9334731|PMID:9443866|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9600235|PMID:9711876|PMID:9872980|PMID:9887333 8708960 Atm ATM serine/threonine kinase gene DOID:10534 stomach cancer severity ISO RGD:1606040 D RGD:9068941 20210827 RGD protein:decreased expression:mucosa of stomach (human) PMID:23649938|REF_RGD_ID:150340700 8708960 Atm ATM serine/threonine kinase gene DOID:10534 stomach cancer severity ISO RGD:1606040 D RGD:9068941 20210903 RGD protein:decreased phosphorylation:stomach (human) PMID:17928013|REF_RGD_ID:150340715 8708960 Atm ATM serine/threonine kinase gene DOID:1059 intellectual disability ISO RGD:1606040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8708960 Atm ATM serine/threonine kinase gene DOID:10652 Alzheimer's disease disease_progression ISO RGD:1606040 D RGD:9068941 20200609 RGD PMID:23861893|REF_RGD_ID:10047419 8708960 Atm ATM serine/threonine kinase gene DOID:10907 microcephaly ISO RGD:1606040 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:19781682|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30287823|PMID:31871109|PMID:32068069|PMID:32566746|PMID:33003326|PMID:33471991|PMID:36243179 8708960 Atm ATM serine/threonine kinase gene DOID:11054 urinary bladder cancer ISO RGD:1606040 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Bladder cancer | ClinVar Annotator: match by term: Malignant tumor of urinary bladder PMID:10864201|PMID:10980530|PMID:12400598|PMID:12815592|PMID:14695534|PMID:15039971|PMID:15843990|PMID:16199547|PMID:16941484|PMID:17124347|PMID:17910737|PMID:18560558|PMID:19431188|PMID:19691550|PMID:20308662|PMID:20966255|PMID:21150274|PMID:21665257|PMID:22649200|PMID:23322442|PMID:23454770|PMID:23807571|PMID:24549055|PMID:24763289|PMID:25077176|PMID:25374739|PMID:25614872|PMID:25741868|PMID:26628246|PMID:26757417|PMID:26896183|PMID:27153395|PMID:28492532|PMID:28724667|PMID:28779002|PMID:29360161|PMID:29371908|PMID:29506128|PMID:29922827|PMID:30287823|PMID:30303537|PMID:30549301|PMID:30772474|PMID:30982232|PMID:31050087|PMID:31350202|PMID:32068069|PMID:32566746|PMID:32676327|PMID:33048355|PMID:33471991|PMID:36988593|PMID:8755918|PMID:9043869|PMID:9450874|PMID:9463314|PMID:9497252|PMID:9733514 8708960 Atm ATM serine/threonine kinase gene DOID:11054 urinary bladder cancer ISO RGD:1606040 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder PMID:10864201|PMID:10980530|PMID:12400598|PMID:12815592|PMID:14695534|PMID:15039971|PMID:15843990|PMID:16199547|PMID:16941484|PMID:17124347|PMID:17910737|PMID:18560558|PMID:19431188|PMID:19691550|PMID:20308662|PMID:20966255|PMID:21150274|PMID:21665257|PMID:22649200|PMID:23322442|PMID:23454770|PMID:23807571|PMID:24549055|PMID:24763289|PMID:25077176|PMID:25374739|PMID:25614872|PMID:25741868|PMID:26467025|PMID:26628246|PMID:26757417|PMID:26896183|PMID:27153395|PMID:28492532|PMID:28724667|PMID:28779002|PMID:29360161|PMID:29371908|PMID:29506128|PMID:29922827|PMID:30287823|PMID:30303537|PMID:30549301|PMID:30607632|PMID:30772474|PMID:30982232|PMID:31050087|PMID:31350202|PMID:32068069|PMID:32427313|PMID:32566746|PMID:32676327|PMID:32832836|PMID:33048355|PMID:33471991|PMID:34489640|PMID:36446039|PMID:36988593|PMID:8755918|PMID:9043869|PMID:9450874|PMID:9463314|PMID:9497252|PMID:9733514 8708960 Atm ATM serine/threonine kinase gene DOID:11476 osteoporosis ISO RGD:10199 D RGD:9068941 20200609 RGD PMID:16644862|REF_RGD_ID:10047420 8708960 Atm ATM serine/threonine kinase gene DOID:1240 leukemia ISO RGD:1593265 D RGD:9068941 20200609 RGD DNA:deletion:exon: PMID:28007901|REF_RGD_ID:12879399 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:7240710 20250312 OMIM 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10464642|PMID:10534763|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12105990|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15159313|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17535973|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:197781682|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21520333|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22354567|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24201163|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25231023|PMID:25232094|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26380989|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27959900|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency PMID:28423360|PMID:28423363|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28956312|PMID:28975018|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29909963|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30713859|PMID:30713931|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173964|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31741144|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31784493|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31970404|PMID:32002120|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:3280694|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32958592|PMID:32959997|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33011440|PMID:33047316|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency PMID:33646313|PMID:33747920|PMID:33750258|PMID:33785725|PMID:33850299|PMID:33875564|PMID:33919281|PMID:33980423|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34262154|PMID:34270679|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34453918|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:34820595|PMID:34994613|PMID:35039564|PMID:35365198|PMID:35806449|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12105990|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17535973|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:197781682|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21520333|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22354567|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:23211698|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24201163|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25231023|PMID:25232094|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26380989|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27959900|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:28423363|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28956312|PMID:28975018|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29909963|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30713859|PMID:30713931|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173964|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31741144|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31784493|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31970404|PMID:32002120|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:3280694|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32958592|PMID:32959997|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33011440|PMID:33047316|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:33747920|PMID:33750258|PMID:33785725|PMID:33850299|PMID:33875564|PMID:33919281|PMID:33980423|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34262154|PMID:34270679|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34453918|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:34820595|PMID:34994613|PMID:35039564|PMID:35365198|PMID:35806449|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:23211698|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24201163|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25231023|PMID:25232094|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26380989|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27959900|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28956312|PMID:28975018|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29909963|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30713859|PMID:30713931|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173964|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31741144|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31784493|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31970404|PMID:32002120|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:3280694|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32958592|PMID:32959997|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33011440|PMID:33047316|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:33750258|PMID:33785725|PMID:33850299|PMID:33875564|PMID:33919281|PMID:33980423|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34262154|PMID:34270679|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34453918|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:34820595|PMID:34994613|PMID:35039564|PMID:35365198|PMID:35806449|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12105990|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17535973|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:197781682|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21520333|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22354567|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24201163|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28898322|PMID:28956312|PMID:28975465|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30420857|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31741144|PMID:31742824|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency PMID:32756499|PMID:32772458|PMID:32775531|PMID:32782288|PMID:3280694|PMID:32810930|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32885271|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33011440|PMID:33047316|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33181636|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33785725|PMID:33850299|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34250389|PMID:34262154|PMID:34270679|PMID:34284872|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34873480|PMID:34884835|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35201558|PMID:35260754|PMID:35284771|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35483985|PMID:35666082|PMID:35716007|PMID:35806449|PMID:35980532|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12105990|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16029571|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17001642|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17540590|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:1943118|PMID:19431188|PMID:19440741|PMID:1953577|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:197781682|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21520333|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22354567|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24201163|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26658419|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28488180|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687356|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28849312|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28898322|PMID:28956312|PMID:28975465|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29141312|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31472684|PMID:31497750|PMID:3149931|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:32019284|PMID:32039725|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32368696|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32775531|PMID:32782288|PMID:3280694|PMID:32810930|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:33011440|PMID:33047316|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:33442023|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33785725|PMID:33850299|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34250389|PMID:34262154|PMID:34270679|PMID:34283047|PMID:34284872|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34663476|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34873480|PMID:34884835|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35145552|PMID:35186721|PMID:35201558|PMID:35260754|PMID:35264596|PMID:35284771|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35483985|PMID:35534218|PMID:35666082|PMID:35716007|PMID:35806449|PMID:35980532|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency PMID:31970404|PMID:32002120|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32368696|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32775531|PMID:32782288|PMID:3280694|PMID:32810930|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33047316|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:33442023|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34270679|PMID:34283047|PMID:34284872|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34663476|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34873480|PMID:34884835|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35145552|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35284771|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35483985|PMID:35534218|PMID:35666082|PMID:35716007|PMID:35806449|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36200007|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12105990|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16029571|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17001642|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:1943118|PMID:19431188|PMID:19440741|PMID:1953577|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:197781682|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21520333|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22354567|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26658419|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28087566 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28488180|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687356|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28849312|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28898322|PMID:28956312|PMID:28975465|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29141312|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31472684|PMID:31497750|PMID:3149931|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:31970404|PMID:32002120|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32368696|PMID:32383162|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32775531|PMID:32782288|PMID:3280694|PMID:32810930|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33047316|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:33442023|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33750258|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34270679|PMID:34283047|PMID:34284872|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34663476|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34873480|PMID:34884835|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35145552|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35284771|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35483985|PMID:35534218|PMID:35666082|PMID:35716007|PMID:35806449|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36167400|PMID:36200007|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28488180|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687356|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28849312|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28898322|PMID:28956312|PMID:28975465|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29141312|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30062048|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30159786|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31300551|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31472684|PMID:31497750|PMID:3149931|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31919090 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32012241|PMID:32019284|PMID:32039725|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32368696|PMID:32383162|PMID:32427313|PMID:32461654|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32655291|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32775531|PMID:32782288|PMID:3280694|PMID:32810930|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33047316|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33239428|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:33442023|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33750258|PMID:33779842|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34067464|PMID:34130653|PMID:34196900|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34270679|PMID:34283047|PMID:34284872|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34477817|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34663476|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34873480|PMID:34884835|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35127508|PMID:35145552|PMID:35154108|PMID:35171259|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35284771|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35483985|PMID:35534218|PMID:35666082|PMID:35710434|PMID:35716007|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36099812|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36551643|PMID:36568162|PMID:36672847|PMID:36674612|PMID:36704080|PMID:36898365|PMID:36988593|PMID:37438524|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26658419|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28488180|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687356|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28849312|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28898322|PMID:28956312|PMID:28975465|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29141312|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29758562|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30062048|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30159786|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30279689|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31300551|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31472684|PMID:31497750|PMID:3149931|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31874108|PMID:31882575 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32012241|PMID:32019284|PMID:32039725|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32368696|PMID:32383162|PMID:32427313|PMID:32461654|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32655291|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32775531|PMID:32782288|PMID:3280694|PMID:32810930|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33047316|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33239428|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:33442023|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33750258|PMID:33779842|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34067464|PMID:34130653|PMID:34196900|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34270679|PMID:34283047|PMID:34284872|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34477817|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34663476|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34873480|PMID:34884835|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35127508|PMID:35145552|PMID:35154108|PMID:35171259|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35284771|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35483985|PMID:35534218|PMID:35534704|PMID:35666082|PMID:35710434|PMID:35716007|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36099812|PMID:36117189|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36551643|PMID:36568162|PMID:36672847|PMID:36674612|PMID:36704080|PMID:36898365|PMID:36988593|PMID:37149759|PMID:37438524|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12105990|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14628072|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16029571|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17001642|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:1943118|PMID:19431188|PMID:19440741|PMID:1953577|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:197781682|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21520333|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22354567|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25742471|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26658419|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27692705|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27854218|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27994516 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28488180|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687356|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28849312|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28888541|PMID:28894253|PMID:28898322|PMID:28956312|PMID:28975465|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29141312|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29445900|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29758562|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30062048|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30159786|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30279689|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30425284|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31300551|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31472684|PMID:31497750|PMID:3149931|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32012241|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32368696|PMID:32371905|PMID:32383162|PMID:32427313|PMID:32461654|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32655291|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32775531|PMID:32782288|PMID:3280694|PMID:32810930|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33047316|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33168809|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33203166|PMID:33206719|PMID:33239428|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33332384|PMID:33359728|PMID:33365035|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33442023|PMID:33462019|PMID:33471191|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33750258|PMID:33779842|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34009545|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34270679|PMID:34271781|PMID:34283047|PMID:34284872|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34477817|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34663476|PMID:34680501|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34873480|PMID:34884835|PMID:34949663|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35085662|PMID:35098669|PMID:35127508|PMID:35145552|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35284771|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35483985|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36099812|PMID:36117189|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36446039|PMID:36551643|PMID:36555667|PMID:36568162|PMID:36672847|PMID:36674612|PMID:36704080|PMID:36717774|PMID:36790564|PMID:36898365|PMID:36988593|PMID:37088804|PMID:37149759|PMID:37239058|PMID:37262986|PMID:37438524|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:1065243|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12105990|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12958068|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14628072|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16029571|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16158199|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17001642|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:1739584|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:1943118|PMID:19431188|PMID:19440741|PMID:1953577|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:197781682|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21520333|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22109722|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22354567|PMID:22369572|PMID:22406018|PMID:22420423 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25586381|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25742471|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26225655|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26619011|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26658419|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:2675381|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27692705|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27854218|PMID:27871447 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27994516|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28488180|PMID:28492530|PMID:28492532|PMID:28495237|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687356|PMID:28687971|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28849312|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28888541|PMID:28894253|PMID:28898322|PMID:28916186|PMID:28956312|PMID:28975465|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29081736|PMID:29101607|PMID:29127364|PMID:29141312|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29308099|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29445900|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29758562|PMID:29769598|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30062048|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30159786|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30279689|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30425284|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31300551|PMID:31317629|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency PMID:31470354|PMID:31472684|PMID:31497750|PMID:3149931|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31721094|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31788995|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32005694|PMID:32008151|PMID:32012241|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32368696|PMID:32371905|PMID:32383162|PMID:32427313|PMID:32461654|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32581083|PMID:32601921|PMID:32606146|PMID:32655291|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32761968|PMID:32772458|PMID:32775531|PMID:32782288|PMID:32792570|PMID:3280694|PMID:32810930|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32962506|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33047316|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33168809|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33203166|PMID:33206719|PMID:33239428|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33359728|PMID:33365035|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33462019|PMID:33471191|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33750258|PMID:33779842|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34009545|PMID:34067464|PMID:34107524|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34270679|PMID:34271781|PMID:34283047|PMID:34284872|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34477817|PMID:34539671|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34659905|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34824606|PMID:34873480|PMID:34884835|PMID:34949663|PMID:34954471|PMID:34994613|PMID:35008949|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35085662|PMID:35098669|PMID:35127508|PMID:35145552|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35220195|PMID:35221880|PMID:35245693|PMID:35257272|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35284771|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35365198|PMID:35402282|PMID:35441217|PMID:35451682|PMID:35467778|PMID:35483985|PMID:35495172|PMID:35534218 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency PMID:35534704|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36000185|PMID:36029002|PMID:36035419|PMID:36091166|PMID:36099812|PMID:36117189|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36329109|PMID:3638722|PMID:36446039|PMID:36451132|PMID:36521553|PMID:36531003|PMID:36551643|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36672847|PMID:36674612|PMID:36704080|PMID:36717774|PMID:36790564|PMID:36898365|PMID:36979741|PMID:36988593|PMID:37009283|PMID:37088804|PMID:37149759|PMID:37239058|PMID:37262986|PMID:37438524|PMID:37445923|PMID:37453313|PMID:4012663|PMID:581456|PMID:622825|PMID:623656|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:1065243|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12105990|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12958068|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14628072|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16029571|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16158199|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17001642|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:1739584|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:1943118|PMID:19431188|PMID:19440741|PMID:1953577|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22109722|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22354567|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22520355 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25586381|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25741914|PMID:25741916|PMID:25742471|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26225655|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26619011|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26658419|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:2675381|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27692705|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27994516|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28488180|PMID:28492530|PMID:28492532|PMID:28495237|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687356|PMID:28687971|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28849312|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28888541|PMID:28894253|PMID:28898322|PMID:28916186|PMID:28956312|PMID:28975465|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29081736|PMID:29101607|PMID:29127364|PMID:29141312|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29308099|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29445900|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29485843|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29615459|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29758562|PMID:29769598|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30062048|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30159786|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30279689|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30425284|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31300551|PMID:31317629|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:31465090|PMID:31470354|PMID:31472684|PMID:31497750|PMID:3149931|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31721094|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31788995|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32005694|PMID:32008151|PMID:32012241|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32315455|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32368696|PMID:32371905|PMID:32383162|PMID:32427313|PMID:32461654|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32558426|PMID:32566746|PMID:32581083|PMID:32601921|PMID:32606146|PMID:32655291|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32710489|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32761968|PMID:32772458|PMID:32775531|PMID:32782288|PMID:32792570|PMID:3280694|PMID:32810930|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32962506|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33047316|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33168809|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33203166|PMID:33206719|PMID:33239428|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33359728|PMID:33365035|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33462019|PMID:33471191|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33750258|PMID:33779842|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34009545|PMID:34067464|PMID:34107524|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34270679|PMID:34271781|PMID:34283047|PMID:34284872|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34477817|PMID:34539671|PMID:34570441|PMID:34573280|PMID:34582042|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34659905|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34824606|PMID:34873480|PMID:34884835|PMID:34949663|PMID:34954471|PMID:34994613|PMID:35008949|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35085662|PMID:35098669|PMID:35127508|PMID:35145552|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35220195|PMID:35221880|PMID:35245693|PMID:35257272|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35284771|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35365198|PMID:35402282|PMID:35406420|PMID:35418818 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:35441217|PMID:35451682|PMID:35467778|PMID:35483985|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35652560|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:36000185|PMID:36008414|PMID:36029002|PMID:36035419|PMID:36091166|PMID:36099812|PMID:36117189|PMID:36132150|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36329109|PMID:3638722|PMID:36446039|PMID:36451132|PMID:36521553|PMID:36531003|PMID:36551643|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36672847|PMID:36674612|PMID:36704080|PMID:36717774|PMID:36790564|PMID:36898365|PMID:36979741|PMID:36988593|PMID:37009283|PMID:37088804|PMID:37149759|PMID:37239058|PMID:37262986|PMID:37436117|PMID:37438524|PMID:37445923|PMID:37453313|PMID:4012663|PMID:581456|PMID:622825|PMID:623656|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:1065243|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12105990|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12958068|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14628072|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16029571|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16158199|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17001642|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:1739584|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17726045|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:1943118|PMID:19431188|PMID:19440741|PMID:1953577|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19650357|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22109722|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22354567|PMID:22369572|PMID:22406018|PMID:22420423 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: AT, COMPLEMENTATION GROUP C | ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:22438227|PMID:22520355|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25586381|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25742471|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26225655|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26619011|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26658419|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:2675381|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27142713|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27692705|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: AT, COMPLEMENTATION GROUP C | ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27994516|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28488180|PMID:28492530|PMID:28492532|PMID:28495237|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687356|PMID:28687971|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28849312|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28888541|PMID:28894253|PMID:28898322|PMID:28916186|PMID:28956312|PMID:28975465|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29081736|PMID:29101607|PMID:29127364|PMID:29141312|PMID:29144541|PMID:29155101|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29308099|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29445900|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29489040|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29615459|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29758562|PMID:29769598|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30062048|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30159786|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30279689|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30425284|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31300551|PMID:31317629|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: AT, COMPLEMENTATION GROUP C | ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:31470354|PMID:31472684|PMID:31497750|PMID:3149931|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31721094|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31788995|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32005694|PMID:32008151|PMID:32012241|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32315455|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32368696|PMID:32371905|PMID:32383162|PMID:32383811|PMID:32427313|PMID:32461654|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32548172|PMID:32558426|PMID:32566746|PMID:32581083|PMID:32601921|PMID:32606146|PMID:32655291|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32710489|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32761968|PMID:32772458|PMID:32775531|PMID:32782288|PMID:32792570|PMID:3280694|PMID:32810930|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32962506|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33047316|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33119476|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33168809|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33203166|PMID:33206719|PMID:33239428|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33359728|PMID:33365035|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33462019|PMID:33471191|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33750258|PMID:33779842|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34009545|PMID:34067464|PMID:34107524|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34270679|PMID:34271781|PMID:34283047|PMID:34284872|PMID:34298181|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34477817|PMID:34477998|PMID:34539671|PMID:34570441|PMID:34573280|PMID:34582042|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34659905|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34824606|PMID:34848827|PMID:34873480|PMID:34884835|PMID:34949663|PMID:34954471|PMID:34994613|PMID:35008949|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35085662|PMID:35098669|PMID:35127508|PMID:35145552|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35220195|PMID:35221880|PMID:35245693|PMID:35257272|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35284771|PMID:35309086|PMID:35312250 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: AT, COMPLEMENTATION GROUP C | ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:35353237|PMID:35365198|PMID:35402282|PMID:35406420|PMID:35418818|PMID:35441217|PMID:35451682|PMID:35467778|PMID:35483985|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35599270|PMID:35652560|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:36000185|PMID:36008414|PMID:36029002|PMID:36035419|PMID:36091166|PMID:36099812|PMID:36117189|PMID:36119527|PMID:36132150|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36329109|PMID:3638722|PMID:36451132|PMID:36521553|PMID:36531003|PMID:36551643|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36672847|PMID:36674612|PMID:36704080|PMID:36717774|PMID:36790564|PMID:36898365|PMID:36979741|PMID:36988593|PMID:37009283|PMID:37088804|PMID:37149759|PMID:37239058|PMID:37436117|PMID:37438524|PMID:37445923|PMID:37453313|PMID:37712079|PMID:38003901|PMID:38017116|PMID:4012663|PMID:581456|PMID:622825|PMID:623656|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency PMID:22438227|PMID:22520355|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25586381|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25742471|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26225655|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26619011|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26658419|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:2675381|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27142713|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27692705|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27994516|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28488180|PMID:28492530|PMID:28492532|PMID:28495237|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687356|PMID:28687971|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28849312|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28888541|PMID:28894253|PMID:28898322|PMID:28916186|PMID:28956312|PMID:28975465|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29081736|PMID:29101607|PMID:29127364|PMID:29141312|PMID:29144541|PMID:29155101|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29308099|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29445900|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29489040|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29615459|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29758562|PMID:29769598|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30062048|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30159786|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30279689|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30425284|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31300551|PMID:31317629|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency PMID:31465090|PMID:31470354|PMID:31472684|PMID:31497750|PMID:3149931|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31721094|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31788995|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32005694|PMID:32008151|PMID:32012241|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32315455|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32368696|PMID:32371905|PMID:32383162|PMID:32383811|PMID:32427313|PMID:32461654|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32548172|PMID:32558426|PMID:32566746|PMID:32581083|PMID:32601921|PMID:32606146|PMID:32624572|PMID:32655291|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32710489|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32761968|PMID:32772458|PMID:32775531|PMID:32782288|PMID:32792570|PMID:3280694|PMID:32810930|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32962506|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33047316|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33119476|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33168809|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33203166|PMID:33206719|PMID:33239428|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33359728|PMID:33365035|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33462019|PMID:33471191|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33750258|PMID:33779842|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34009545|PMID:34067464|PMID:34107524|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34270679|PMID:34271781|PMID:34283047|PMID:34284872|PMID:34298181|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34477817|PMID:34477998|PMID:34539671|PMID:34570441|PMID:34573280|PMID:34582042|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34659905|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34824606|PMID:34848827|PMID:34873480|PMID:34884835|PMID:34949663|PMID:34954471|PMID:34994613|PMID:35008949|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35085662|PMID:35098669|PMID:35127508|PMID:35145552|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35220195|PMID:35221880|PMID:35245693|PMID:35257272|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35284771 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency PMID:35309086|PMID:35312250|PMID:35353237|PMID:35365198|PMID:35402282|PMID:35406420|PMID:35418818|PMID:35441217|PMID:35451682|PMID:35467778|PMID:35483985|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35599270|PMID:35652560|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:36000185|PMID:36008414|PMID:36029002|PMID:36035419|PMID:36091166|PMID:36099812|PMID:36117189|PMID:36119527|PMID:36132150|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36329109|PMID:3638722|PMID:36446039|PMID:36451132|PMID:36521553|PMID:36531003|PMID:36551643|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36672847|PMID:36674612|PMID:36704080|PMID:36717774|PMID:36790564|PMID:36898365|PMID:36979741|PMID:36988593|PMID:37009283|PMID:37088804|PMID:37091313|PMID:37149759|PMID:37239058|PMID:37262986|PMID:37436117|PMID:37438524|PMID:37445923|PMID:37453313|PMID:37712079|PMID:38003901|PMID:38017116|PMID:4012663|PMID:581456|PMID:622825|PMID:623656|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:22438227|PMID:22520355|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25586381|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25677497|PMID:25741868|PMID:25742471|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26225655|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26619011|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26658419|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:2675381|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27142713|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27692705|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27994516|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28488180|PMID:28492530|PMID:28492532|PMID:28495237|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687356|PMID:28687971|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28849312|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28888541|PMID:28894253|PMID:28898322|PMID:28916186|PMID:28956312|PMID:28975465|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29081736|PMID:29101607|PMID:29127364|PMID:29141312|PMID:29144541|PMID:29155101|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29308099|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29445900|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29489040|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29615459|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29758562|PMID:29769598|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30062048|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30159786|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30279689|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30425284|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31300551|PMID:31317629|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:31447099|PMID:31465090|PMID:31470354|PMID:31472684|PMID:31497750|PMID:3149931|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31721094|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31788995|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32005694|PMID:32008151|PMID:32012241|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32315455|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32368696|PMID:32371905|PMID:32383162|PMID:32383811|PMID:32427313|PMID:32461654|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32548172|PMID:32558426|PMID:32566746|PMID:32581083|PMID:32601921|PMID:32606146|PMID:32624572|PMID:32655291|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32710489|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32761968|PMID:32772458|PMID:32775531|PMID:32782288|PMID:32792570|PMID:3280694|PMID:32810930|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32962506|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33047316|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33119476|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33168809|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33203166|PMID:33206719|PMID:33239428|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33359728|PMID:33365035|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33462019|PMID:33471191|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33750258|PMID:33779842|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34009545|PMID:34067464|PMID:34107524|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34270679|PMID:34271781|PMID:34283047|PMID:34284872|PMID:34298181|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34477817|PMID:34477998|PMID:34539671|PMID:34570441|PMID:34573280|PMID:34582042|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34659905|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34824606|PMID:34848827|PMID:34873480|PMID:34884835|PMID:34949663|PMID:34954471|PMID:34994613|PMID:35008949|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35085662|PMID:35098669|PMID:35127508|PMID:35145552|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35220195|PMID:35221880|PMID:35245693|PMID:35257272|PMID:35260754|PMID:35264596|PMID:35273153 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:35284771|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35365198|PMID:35402282|PMID:35406420|PMID:35418818|PMID:35441217|PMID:35451682|PMID:35467778|PMID:35483985|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35599270|PMID:35652560|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:36000185|PMID:36008414|PMID:36029002|PMID:36035419|PMID:36091166|PMID:36099812|PMID:36117189|PMID:36119527|PMID:36132150|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36329109|PMID:3638722|PMID:36446039|PMID:36451132|PMID:36521553|PMID:36531003|PMID:36551643|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36672847|PMID:36674612|PMID:36704080|PMID:36717774|PMID:36790564|PMID:36898365|PMID:36979741|PMID:36988593|PMID:37009283|PMID:37088804|PMID:37091313|PMID:37149759|PMID:37239058|PMID:37262986|PMID:37436117|PMID:37438524|PMID:37445923|PMID:37453313|PMID:37712079|PMID:38003901|PMID:38017116|PMID:4012663|PMID:581456|PMID:622825|PMID:623656|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27994516|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28488180|PMID:28492530|PMID:28492532|PMID:28495237|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687356|PMID:28687971|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28849312|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28888541|PMID:28894253|PMID:28898322|PMID:28916186|PMID:28956312|PMID:28975465|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29081736|PMID:29101607|PMID:29127364|PMID:29141312|PMID:29144541|PMID:29155101|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29308099|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29445900|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29489040|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29615459|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29758562|PMID:29769598|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30062048|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30159786|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30279689|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30425284|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30543347|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30824826|PMID:30833958|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31300551|PMID:31317629|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:22438227|PMID:22520355|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25586381|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25742471|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26225655|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26619011|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26658419|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:2675381|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27142713|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27692705|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31472684|PMID:31497750|PMID:3149931|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31721094|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31788995|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32005694|PMID:32008151|PMID:32012241|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32315455|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32368696|PMID:32371905|PMID:32383162|PMID:32383811|PMID:32427313|PMID:32461654|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32548172|PMID:32558426|PMID:32566746|PMID:32581083|PMID:32601921|PMID:32606146|PMID:32624572|PMID:32655291|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32710489|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32761968|PMID:32772458|PMID:32775531|PMID:32782288|PMID:32792570|PMID:3280694|PMID:32810930|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32868316|PMID:32875559|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32962506|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33047316|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33119476|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33168809|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33203166|PMID:33206719|PMID:33239428|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33359728|PMID:33365035|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33462019|PMID:33471191|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33750258|PMID:33779842|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34009545|PMID:34067464|PMID:34107524|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34283047|PMID:34284872|PMID:34298181|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34477817|PMID:34477998|PMID:34539671|PMID:34570441|PMID:34573280|PMID:34582042|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34659905|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34824606|PMID:34848827|PMID:34873480|PMID:34884835|PMID:34949663|PMID:34954471|PMID:34994613|PMID:35008949|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35085662|PMID:35098669|PMID:35127508|PMID:35145552|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35220195|PMID:35221880|PMID:35245693 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:35257272|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35284771|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35365198|PMID:35402282|PMID:35406420|PMID:35418818|PMID:35441217|PMID:35451682|PMID:35467778|PMID:35483985|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35599270|PMID:35652560|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:36000185|PMID:36008414|PMID:36029002|PMID:36035419|PMID:36091166|PMID:36099812|PMID:36117189|PMID:36119527|PMID:36132150|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36329109|PMID:3638722|PMID:36446039|PMID:36451132|PMID:36521553|PMID:36531003|PMID:36551643|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36672847|PMID:36674612|PMID:36704080|PMID:36717774|PMID:36790564|PMID:36898365|PMID:36979741|PMID:36988593|PMID:37009283|PMID:37088804|PMID:37091313|PMID:37097610|PMID:37149759|PMID:37239058|PMID:37262986|PMID:37436117|PMID:37438524|PMID:37445923|PMID:37453313|PMID:37529773|PMID:37712079|PMID:38003901|PMID:38017116|PMID:38028594|PMID:38355628|PMID:38509102|PMID:4012663|PMID:581456|PMID:622825|PMID:623656|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:22420423|PMID:22438227|PMID:22520355|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25586381|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25742471|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26225655|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26619011|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26658419|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:2675381|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27142713|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27692705|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27994516|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28488180|PMID:28492530|PMID:28492532|PMID:28495237|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687356|PMID:28687971|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28849312|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28888541|PMID:28894253|PMID:28898322|PMID:28916186|PMID:28956312|PMID:28975465|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29081736|PMID:29101607|PMID:29127364|PMID:29141312|PMID:29144541|PMID:29155101|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29308099|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29445900|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29489040|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29615459|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29758562|PMID:29769598|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30062048|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30159786|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30279689|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30425284|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30543347|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30824826|PMID:30833958|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31300551|PMID:31317629|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31472684|PMID:31497750|PMID:3149931|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31721094|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31788995|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32005694|PMID:32008151|PMID:32012241|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32315455|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32368696|PMID:32371905|PMID:32383162|PMID:32383811|PMID:32427313|PMID:32461654|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32548172|PMID:32558426|PMID:32566746|PMID:32581083|PMID:32601921|PMID:32606146|PMID:32624572|PMID:32655291|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32710489|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32761968|PMID:32772458|PMID:32775531|PMID:32782288|PMID:32792570|PMID:3280694|PMID:32810930|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32868316|PMID:32875559|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32962506|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33047316|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33119476|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33168809|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33203166|PMID:33206719|PMID:33239428|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33359728|PMID:33365035|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33462019|PMID:33471191|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33750258|PMID:33779842|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34009545|PMID:34067464|PMID:34107524|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34283047|PMID:34284872|PMID:34298181|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34477817|PMID:34477998|PMID:34539671|PMID:34570441|PMID:34573280|PMID:34582042|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34659905|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34824606|PMID:34848827|PMID:34873480|PMID:34884835|PMID:34949663|PMID:34954471|PMID:34994613|PMID:35008949|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35085662|PMID:35098669|PMID:35127508|PMID:35145552|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35220195|PMID:35221880 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:35245693|PMID:35257272|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35284771|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35365198|PMID:35402282|PMID:35406420|PMID:35418818|PMID:35441217|PMID:35451682|PMID:35467778|PMID:35483985|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35599270|PMID:35652560|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:36000185|PMID:36008414|PMID:36029002|PMID:36035419|PMID:36091166|PMID:36099812|PMID:36117189|PMID:36119527|PMID:36132150|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36329109|PMID:3638722|PMID:36446039|PMID:36451132|PMID:36521553|PMID:36531003|PMID:36551643|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36672847|PMID:36674612|PMID:36685941|PMID:36704080|PMID:36717774|PMID:36790564|PMID:36898365|PMID:36979741|PMID:36988593|PMID:37009283|PMID:37088804|PMID:37091313|PMID:37097610|PMID:37149759|PMID:37239058|PMID:37262986|PMID:37306523|PMID:37436117|PMID:37438524|PMID:37445923|PMID:37453313|PMID:37529773|PMID:37712079|PMID:37762649|PMID:38003901|PMID:38017116|PMID:38028594|PMID:38355628|PMID:38509102|PMID:4012663|PMID:581456|PMID:622825|PMID:623656|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:27854218|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27994516|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28488180|PMID:28492530|PMID:28492532|PMID:28495237|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687356|PMID:28687971|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28849312|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28888541|PMID:28894253|PMID:28898322|PMID:28916186|PMID:28956312|PMID:28975465|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29081736|PMID:29101607|PMID:29127364|PMID:29141312|PMID:29144541|PMID:29155101|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29308099|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29445900|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29489040|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29615459|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29758562|PMID:29769598|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30062048|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113886|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30159786|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30279689|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30370249|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30425284|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30543347|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30824826|PMID:30833958|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31300551|PMID:31317629|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31472684|PMID:31497750|PMID:3149931|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31721094|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31788995|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32005694|PMID:32008151|PMID:32012241|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32315455|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32368696|PMID:32371905|PMID:32383162|PMID:32383811|PMID:32427313|PMID:32461654|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32548172|PMID:32558426|PMID:32566746|PMID:32581083|PMID:32601921|PMID:32606146|PMID:32624572|PMID:32655291|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32710489|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32761968|PMID:32772458|PMID:32775531|PMID:32782288|PMID:32792570|PMID:3280694|PMID:32810930|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32868316|PMID:32875559|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32962506|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33047316|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33119476|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33168809|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33203166|PMID:33206719|PMID:33239428|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33359728|PMID:33365035|PMID:33376610|PMID:33383211|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33462019|PMID:33471191|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33750258|PMID:33779842|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34009545|PMID:34067464|PMID:34107524|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34283047|PMID:34284872|PMID:34298181|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34477817|PMID:34477998|PMID:34489640|PMID:34539671|PMID:34570441|PMID:34573280|PMID:34582042|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34659905|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34824606|PMID:34848827|PMID:34873480|PMID:34884835|PMID:34949663|PMID:34954471|PMID:34994613|PMID:35008949|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35085662|PMID:35098669|PMID:35127508|PMID:35145552|PMID:35146455|PMID:35154108|PMID:35171259 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:35181726|PMID:35186721|PMID:35201558|PMID:35220195|PMID:35221880|PMID:35245693|PMID:35257272|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35284771|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35354106|PMID:35365198|PMID:35402282|PMID:35406420|PMID:35418818|PMID:35441217|PMID:35451682|PMID:35467778|PMID:35483985|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35599270|PMID:35652560|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:36000185|PMID:36008414|PMID:36029002|PMID:36035419|PMID:36091166|PMID:36099812|PMID:36117189|PMID:36119527|PMID:36132150|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36329109|PMID:3638722|PMID:36446039|PMID:36451132|PMID:36521553|PMID:36531003|PMID:36551643|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36672847|PMID:36674612|PMID:36685941|PMID:36704080|PMID:36717774|PMID:36790564|PMID:36898365|PMID:36979741|PMID:36988593|PMID:37009283|PMID:37088804|PMID:37091313|PMID:37097610|PMID:37149759|PMID:37239058|PMID:37262986|PMID:37306523|PMID:37331604|PMID:37436117|PMID:37438524|PMID:37445923|PMID:37450374|PMID:37453313|PMID:37529773|PMID:37581139|PMID:37628581|PMID:37712079|PMID:37762649|PMID:38003901|PMID:38017116|PMID:38028594|PMID:38355628|PMID:38509102|PMID:4012663|PMID:581456|PMID:622825|PMID:623656|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:1065243|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12105990|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12958068|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14628072|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16029571|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16158199|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17001642|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:1739584|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17632790|PMID:17640065|PMID:17699107|PMID:17726045|PMID:17876757|PMID:17910737|PMID:17923702|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:1943118|PMID:19431188|PMID:19440741|PMID:1953577|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19650357|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22109722|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22354567|PMID:22369572 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:22406018|PMID:22420423|PMID:22438227|PMID:22520355|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24584352|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25249249|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25586381|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25742471|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26225655|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26388441|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26536348|PMID:26556299|PMID:26580448|PMID:26619011|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26658419|PMID:26662178|PMID:26667234|PMID:26677030|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:2675381|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27142713|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27534895|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27659017|PMID:27664052|PMID:27671921|PMID:27692705|PMID:27714650 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27854218|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27994516|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28488180|PMID:28492530|PMID:28492532|PMID:28495237|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687356|PMID:28687971|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28775315|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28849312|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28888541|PMID:28894253|PMID:28898322|PMID:28916186|PMID:28956312|PMID:28975465|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29081736|PMID:29101607|PMID:29127364|PMID:29141312|PMID:29144541|PMID:29155101|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29308099|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29445900|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29489040|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29615459|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29758562|PMID:29769598|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30062048|PMID:30067863|PMID:30082870|PMID:30086788|PMID:30093976|PMID:30104763|PMID:30113886|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30159786|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30279689|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30370249|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30425284|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30543347|PMID:30549301|PMID:30550363|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30630526|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30709382|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30824826|PMID:30833958|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31300551|PMID:31317629|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31472684|PMID:31497750|PMID:3149931|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31721094|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31788995|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31854063|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32005694|PMID:32008151|PMID:32012241|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:32165095|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32256484|PMID:32283892|PMID:32295079|PMID:32300177|PMID:32315455|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32368696|PMID:32371905|PMID:32383162|PMID:32383811|PMID:32427313|PMID:32461654|PMID:32471518|PMID:32488064|PMID:32508039|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32548172|PMID:32558426|PMID:32566746|PMID:32581083|PMID:32601921|PMID:32606146|PMID:32624572|PMID:32655291|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32710489|PMID:32720237|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32761968|PMID:32772458|PMID:32775531|PMID:32782288|PMID:32792570|PMID:3280694|PMID:32810930|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32868316|PMID:32875559|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32962506|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33003326|PMID:33011440|PMID:33047316|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33119476|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33168809|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33203166|PMID:33206719|PMID:33239428|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33359728|PMID:33365035|PMID:33376610|PMID:33383211|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33429865|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33462019|PMID:33471191|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33525650|PMID:33544757|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33598286|PMID:33606809|PMID:33608381|PMID:33624863|PMID:33630411|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33750258|PMID:33779842|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33875564|PMID:33893081|PMID:33916788|PMID:33919281|PMID:33939675|PMID:33940787|PMID:33980423|PMID:34008015|PMID:34009545|PMID:34067464|PMID:34107524|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34283047|PMID:34284872|PMID:34298181|PMID:34299313|PMID:34301788|PMID:34308104|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34401606|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34477817|PMID:34477998|PMID:34489640|PMID:34539671|PMID:34567246|PMID:34570441|PMID:34573280|PMID:34582042|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:34653365|PMID:34653963|PMID:34654685|PMID:34659905|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34718612|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34791078|PMID:34820595|PMID:34824606|PMID:34848827|PMID:34873480|PMID:34884835|PMID:34887416|PMID:34949663|PMID:34954471|PMID:34994613|PMID:35008949|PMID:35017683|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35078817|PMID:35085662|PMID:35095854|PMID:35098669|PMID:35127508|PMID:35145272|PMID:35145552|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35218119|PMID:35220195|PMID:35221880|PMID:35245693|PMID:35257272|PMID:35260348|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35284771|PMID:35304488|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35354106|PMID:35365198|PMID:35402282|PMID:35406420|PMID:35418818|PMID:35441217|PMID:35449110|PMID:35451682|PMID:35467778|PMID:35475445|PMID:35483985|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35585550|PMID:35586824|PMID:35599270|PMID:35626031|PMID:35652560|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35777164|PMID:35806449|PMID:35884425|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:36000185|PMID:36003761|PMID:36008414|PMID:36018153|PMID:36029002|PMID:36035419|PMID:36091166|PMID:36094610|PMID:36099812|PMID:36117189|PMID:36119527|PMID:36132150|PMID:36135357|PMID:36155879|PMID:36167400|PMID:36179682|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36329109|PMID:36346689|PMID:3638722|PMID:36387226|PMID:36446039|PMID:36451132|PMID:36521553|PMID:36531003|PMID:36551643|PMID:36555667|PMID:36568162|PMID:36577833|PMID:36627197|PMID:36672847|PMID:36674612|PMID:36685941|PMID:36703223|PMID:36704080|PMID:36717774|PMID:36744932|PMID:36781323|PMID:36790564|PMID:36845387|PMID:36853301|PMID:36896836|PMID:36898365|PMID:36979741|PMID:36980780|PMID:36983044|PMID:36988593|PMID:37009283|PMID:37013556|PMID:37075885|PMID:37088804|PMID:37091313|PMID:37097610|PMID:37149759|PMID:37232349|PMID:37239058|PMID:37262986|PMID:37306523|PMID:37323311|PMID:37331604|PMID:37345735|PMID:37349538|PMID:37436117|PMID:37438524|PMID:37445923|PMID:37450374|PMID:37453313|PMID:37529773|PMID:37536918|PMID:37581139|PMID:37591896|PMID:37628581|PMID:37656691|PMID:37712079|PMID:37762649|PMID:37833309|PMID:38003901|PMID:38017116|PMID:38028594|PMID:38136308|PMID:38147532|PMID:38153744|PMID:38156855|PMID:38201484|PMID:38355628|PMID:38489015|PMID:38509102|PMID:38520597|PMID:38854973|PMID:38874686|PMID:39077936|PMID:39085400|PMID:39256447|PMID:39825153|PMID:4012663|PMID:581456|PMID:622825|PMID:623656|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:12930 dilated cardiomyopathy ISO RGD:1606040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24358288 8708960 Atm ATM serine/threonine kinase gene DOID:1319 brain cancer ISO RGD:1606040 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Brain cancer PMID:32885271 8708960 Atm ATM serine/threonine kinase gene DOID:1324 lung cancer ISO RGD:1606040 D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Lung cancer PMID:25741868 8708960 Atm ATM serine/threonine kinase gene DOID:1380 endometrial cancer susceptibility ISO RGD:1606040 D RGD:9068941 20200609 RGD PMID:17164260|REF_RGD_ID:2293868 8708960 Atm ATM serine/threonine kinase gene DOID:14330 Parkinson's disease ISO RGD:1606040 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:cingulate gyrus PMID:20502937|REF_RGD_ID:10053605 8708960 Atm ATM serine/threonine kinase gene DOID:14566 disease of cellular proliferation ISO RGD:1606040 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Neoplasm PMID:31447099 8708960 Atm ATM serine/threonine kinase gene DOID:14723 beta-ketothiolase deficiency ISO RGD:1606040 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of acetyl-CoA acetyltransferase PMID:28492532 8708960 Atm ATM serine/threonine kinase gene DOID:1520 colon carcinoma ISO RGD:1606040 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:10817650|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12882767|PMID:12935933|PMID:14695997|PMID:15101044|PMID:15280931|PMID:15880721|PMID:16574953|PMID:16631465|PMID:16832357|PMID:17023046|PMID:17333338|PMID:17341484|PMID:17393301|PMID:17517479|PMID:17623063|PMID:17640065|PMID:19404735|PMID:19431188|PMID:19781682|PMID:20305132|PMID:20826828|PMID:21787400|PMID:21833744|PMID:21933854|PMID:22369572|PMID:22529920|PMID:23091097|PMID:23555315|PMID:23585524|PMID:23807571|PMID:24142997|PMID:24416720|PMID:24728327|PMID:25148578|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25523272|PMID:25587027|PMID:25614872|PMID:25741868|PMID:25980754|PMID:26009992|PMID:26123645|PMID:26207792|PMID:26467025|PMID:26580448|PMID:26898890|PMID:26901136|PMID:27146902|PMID:28135145|PMID:28492532|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28779002|PMID:29522266|PMID:29641532|PMID:29659569|PMID:30256826|PMID:30303537|PMID:30613976|PMID:31159747|PMID:31415627|PMID:31742824|PMID:32522261|PMID:33471991|PMID:34262154|PMID:34646395|PMID:9792409|PMID:9887333 8708960 Atm ATM serine/threonine kinase gene DOID:1520 colon carcinoma ISO RGD:1606040 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma PMID:10425038|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12882767|PMID:12935933|PMID:14695997|PMID:14754616|PMID:15101044|PMID:15280931|PMID:15880721|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16832357|PMID:17000706|PMID:17023046|PMID:17333338|PMID:17341484|PMID:17351744|PMID:17393301|PMID:17502119|PMID:17517479|PMID:17623063|PMID:17640065|PMID:17910737|PMID:19404735|PMID:19431188|PMID:19781682|PMID:20305132|PMID:20826828|PMID:21665257|PMID:21787400|PMID:21833744|PMID:21933854|PMID:22369572|PMID:22529920|PMID:23091097|PMID:23555315|PMID:23585524|PMID:23807571|PMID:24142997|PMID:24416720|PMID:24728327|PMID:25085752|PMID:25148578|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25523272|PMID:25587027|PMID:25614872|PMID:25741868|PMID:25980754|PMID:26009992|PMID:26123645|PMID:26207792|PMID:26467025|PMID:26580448|PMID:26689913|PMID:26898890|PMID:26901136|PMID:27146902|PMID:27224988|PMID:27365426|PMID:28135145|PMID:28492532|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28779002|PMID:29155101|PMID:29522266|PMID:29641532|PMID:29659569|PMID:30256826|PMID:30303537|PMID:30613976|PMID:31159747|PMID:31415627|PMID:31742824|PMID:32113160|PMID:32522261|PMID:33191115|PMID:33471991|PMID:34262154|PMID:34326862|PMID:34646395|PMID:35047863|PMID:35264596|PMID:36099812|PMID:36243179|PMID:37091313|PMID:37262986|PMID:8845835|PMID:9792409|PMID:9887333 8708960 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:7240710 20250312 OMIM 8708960 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14562025|PMID:14627829|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15101044|PMID:15217508|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18164969|PMID:18321536|PMID:18431795|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21164480|PMID:21346221|PMID:21396839|PMID:21445571|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:22006793|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585170|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23264026|PMID:23322442|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24568663|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24853695|PMID:24886963|PMID:24935205|PMID:24951259|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25862857|PMID:25882375|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26164066|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26320869|PMID:26439923|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26854966|PMID:26878173|PMID:26898890|PMID:26901136|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27043212|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27150160|PMID:27153395|PMID:27322425|PMID:27375234|PMID:27443514|PMID:27460089|PMID:27468087 8708960 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:27528516|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28188106|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:29127364|PMID:29335925|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29470806|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29915382|PMID:29922827|PMID:29945567|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30363071|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30651582|PMID:30814645|PMID:30883245|PMID:30938815|PMID:30995915|PMID:31050087|PMID:31125277|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31216378|PMID:31341520|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31658756|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31843900|PMID:31867841|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:32039725|PMID:32125938|PMID:32183364|PMID:32283892|PMID:32338768|PMID:32427313|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32906206|PMID:32958592|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33747920|PMID:34262154|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14562025|PMID:14627829|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15101044|PMID:15217508|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17001642|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18164969|PMID:18321536|PMID:18431795|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21164480|PMID:21346221|PMID:21396839|PMID:21445571|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:22006793|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585170|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23264026|PMID:23322442|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24568663|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24853695|PMID:24886963|PMID:24935205|PMID:24951259|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25326637|PMID:25428789|PMID:25452441|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25862857|PMID:25882375|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26164066|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26320869|PMID:26439923|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26854966|PMID:26878173|PMID:26898890|PMID:26901136|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27043212|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27150160|PMID:27153395|PMID:27322425|PMID:27375234|PMID:27443514|PMID:27460089|PMID:27468087|PMID:27528516|PMID:27535334|PMID:27568332 8708960 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28188106|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:29127364|PMID:29335925|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29470806|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29915382|PMID:29922827|PMID:29945567|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30363071|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30651582|PMID:30814645|PMID:30883245|PMID:30938815|PMID:30995915|PMID:31050087|PMID:31125277|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31216378|PMID:31341520|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31658756|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:32039725|PMID:32125938|PMID:32183364|PMID:32283892|PMID:32338768|PMID:32427313|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32906206|PMID:32958592|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33747920|PMID:34262154|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14562025|PMID:14627829|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15101044|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18164969|PMID:18321536|PMID:18431795|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21164480|PMID:21346221|PMID:21396839|PMID:21445571|PMID:21514219|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:22006793|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23264026|PMID:23322442|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24568663|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24853695|PMID:24886963|PMID:24935205|PMID:24951259|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25862857|PMID:25882375|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26164066|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26320869|PMID:26439923|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27043212|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27150160 8708960 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:27153395|PMID:27322425|PMID:27375234|PMID:27443514|PMID:27460089|PMID:27468087|PMID:27528516|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:29127364|PMID:29335925|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29470806|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30363071|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30814645|PMID:30816533|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31341520|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31658756|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183364|PMID:32283892|PMID:32338768|PMID:32427313|PMID:32521533|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32754152|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32906206|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33919281|PMID:34067464|PMID:34262154|PMID:34359559|PMID:34371384|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35365198|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:27150160|PMID:27153395|PMID:27322425|PMID:27375234|PMID:27443514|PMID:27460089|PMID:27468087|PMID:27528516|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:29127364|PMID:29335925|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29470806|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30339652|PMID:30363071|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30662270|PMID:30697212|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31206626|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31472684|PMID:31611883|PMID:31658756|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31794323|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183301|PMID:32183364|PMID:32283892|PMID:32338768|PMID:32427313|PMID:32521533|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33558524|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34130653|PMID:34262154|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35284771|PMID:35365198|PMID:35467778|PMID:35716007|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14562025|PMID:14627829|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15101044|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18164969|PMID:18321536|PMID:18431795|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21164480|PMID:21346221|PMID:21396839|PMID:21445571|PMID:21514219|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:22006793|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23264026|PMID:23322442|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24568663|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24853695|PMID:24886963|PMID:24935205|PMID:24951259|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25862857|PMID:25882375|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26164066|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26320869|PMID:26439923|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27043212|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310 8708960 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:27150160|PMID:27153395|PMID:27322425|PMID:27375234|PMID:27443514|PMID:27460089|PMID:27468087|PMID:27528516|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:29127364|PMID:29335925|PMID:29356034|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29470806|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30339652|PMID:30363071|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30662270|PMID:30697212|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31206626|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31472684|PMID:31611883|PMID:31658756|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31794323|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183301|PMID:32183364|PMID:32283892|PMID:32338768|PMID:32427313|PMID:32521533|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33558524|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34130653|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35284771|PMID:35365198|PMID:35467778|PMID:35716007|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14562025|PMID:14627829|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15101044|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18164969|PMID:18321536|PMID:18431795|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21164480|PMID:21346221|PMID:21396839|PMID:21445571|PMID:21514219|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:22006793|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23264026|PMID:23322442|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24568663|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24853695|PMID:24886963|PMID:24935205|PMID:24951259|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25862857|PMID:25882375|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26164066|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26320869|PMID:26439923|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27043212|PMID:27067391|PMID:27083775|PMID:27093186 8708960 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:27121310|PMID:27150160|PMID:27153395|PMID:27322425|PMID:27375234|PMID:27443514|PMID:27460089|PMID:27468087|PMID:27528516|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:29127364|PMID:29335925|PMID:29356034|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29470806|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30339652|PMID:30363071|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30662270|PMID:30697212|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31206626|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31472684|PMID:31611883|PMID:31658756|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31794323|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183301|PMID:32183364|PMID:32283892|PMID:32338768|PMID:32427313|PMID:32521533|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33558524|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34130653|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35284771|PMID:35365198|PMID:35467778|PMID:35716007|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14562025|PMID:14627829|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15101044|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18164969|PMID:18321536|PMID:18431795|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21164480|PMID:21346221|PMID:21396839|PMID:21445571|PMID:21514219|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:22006793|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24568663|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24853695|PMID:24886963|PMID:24935205|PMID:24951259|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25862857|PMID:25882375|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26164066|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26320869|PMID:26439923|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27043212|PMID:27067391|PMID:27083775 8708960 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:27093186|PMID:27121310|PMID:27150160|PMID:27153395|PMID:27322425|PMID:27375234|PMID:27443514|PMID:27460089|PMID:27468087|PMID:27528516|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:29127364|PMID:29335925|PMID:29356034|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29470806|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30339652|PMID:30363071|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30662270|PMID:30697212|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31206626|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31472684|PMID:31611883|PMID:31658756|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31794323|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183301|PMID:32183364|PMID:32283892|PMID:32338768|PMID:32427313|PMID:32521533|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33558524|PMID:33646313|PMID:33747920|PMID:33804961|PMID:33850299|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34130653|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35284771|PMID:35365198|PMID:35467778|PMID:35716007|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:27093186|PMID:27121310|PMID:27150160|PMID:27153395|PMID:27322425|PMID:27375234|PMID:27443514|PMID:27460089|PMID:27468087|PMID:27528516|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:29127364|PMID:29335925|PMID:29356034|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29470806|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30339652|PMID:30363071|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30662270|PMID:30697212|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31206626|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31472684|PMID:31611883|PMID:31658756|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31794323|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183301|PMID:32183364|PMID:32283892|PMID:32338768|PMID:32427313|PMID:32521533|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33558524|PMID:33646313|PMID:33747920|PMID:33804961|PMID:33850299|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34130653|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35264596|PMID:35284771|PMID:35365198|PMID:35467778|PMID:35716007|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:27093186|PMID:27121310|PMID:27150160|PMID:27153395|PMID:27322425|PMID:27375234|PMID:27443514|PMID:27460089|PMID:27468087|PMID:27528516|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:29127364|PMID:29335925|PMID:29356034|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29470806|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30339652|PMID:30363071|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30662270|PMID:30697212|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31206626|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31472684|PMID:31611883|PMID:31658756|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31794323|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183301|PMID:32183364|PMID:32283892|PMID:32338768|PMID:32427313|PMID:32521533|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33558524|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33804961|PMID:33850299|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34130653|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35264596|PMID:35284771|PMID:35365198|PMID:35467778|PMID:35716007|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14562025|PMID:14627829|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15101044|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18164969|PMID:18321536|PMID:18431795|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21164480|PMID:21346221|PMID:21396839|PMID:21445571|PMID:21514219|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:22006793|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24568663|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24853695|PMID:24886963|PMID:24935205|PMID:24951259|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25318351|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25862857|PMID:25882375|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26164066|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26320869|PMID:26439923|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26917275|PMID:26976419|PMID:27016235 8708960 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:27043212|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27153395|PMID:27322425|PMID:27375234|PMID:27443514|PMID:27460089|PMID:27468087|PMID:27528516|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:29127364|PMID:29335925|PMID:29356034|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29470806|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30339652|PMID:30363071|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30662270|PMID:30697212|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31206626|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31472684|PMID:31611883|PMID:31658756|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31794323|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183301|PMID:32183364|PMID:32283892|PMID:32338768|PMID:32427313|PMID:32521533|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33558524|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34130653|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35047863|PMID:35264596|PMID:35284771|PMID:35365198|PMID:35467778|PMID:35716007|PMID:36568162|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:27016235|PMID:27043212|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27153395|PMID:27322425|PMID:27375234|PMID:27443514|PMID:27460089|PMID:27468087|PMID:27528516|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:29127364|PMID:29335925|PMID:29356034|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29470806|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30339652|PMID:30363071|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30662270|PMID:30697212|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31206626|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31472684|PMID:31611883|PMID:31658756|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31794323|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183301|PMID:32183364|PMID:32283892|PMID:32338768|PMID:32427313|PMID:32521533|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33558524|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34130653|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35047863|PMID:35264596|PMID:35284771|PMID:35365198|PMID:35467778|PMID:35716007|PMID:36315919|PMID:36568162|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14562025|PMID:14627829|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15101044|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18164969|PMID:18321536|PMID:18431795|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21164480|PMID:21346221|PMID:21396839|PMID:21445571|PMID:21514219|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:22006793|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24568663|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24853695|PMID:24886963|PMID:24935205|PMID:24951259|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25318351|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25862857|PMID:25882375|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26164066|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26320869|PMID:26439923|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26917275|PMID:26976419 8708960 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:27016235|PMID:27043212|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27153395|PMID:27322425|PMID:27375234|PMID:27443514|PMID:27460089|PMID:27468087|PMID:27528516|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:29127364|PMID:29335925|PMID:29356034|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29470806|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30339652|PMID:30363071|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30662270|PMID:30697212|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31206626|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31472684|PMID:31611883|PMID:31658756|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31794323|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183301|PMID:32183364|PMID:32283892|PMID:32338768|PMID:32427313|PMID:32521533|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33558524|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34130653|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35047863|PMID:35264596|PMID:35284771|PMID:35365198|PMID:35467778|PMID:35716007|PMID:36029002|PMID:36315919|PMID:36568162|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14562025|PMID:14627829|PMID:14628072|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15101044|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18164969|PMID:18321536|PMID:18431795|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21164480|PMID:21346221|PMID:21396839|PMID:21445571|PMID:21514219|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:22006793|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24568663|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24853695|PMID:24886963|PMID:24935205|PMID:24951259|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25318351|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25862857|PMID:25882375|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26164066|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26320869|PMID:26439923|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173 8708960 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:26896183|PMID:26898890|PMID:26901136|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27043212|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27153395|PMID:27322425|PMID:27375234|PMID:27443514|PMID:27460089|PMID:27468087|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27692705|PMID:27720647|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:29058119|PMID:29127364|PMID:29335925|PMID:29356034|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29445900|PMID:29449433|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30339652|PMID:30363071|PMID:30425284|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30662270|PMID:30697212|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31206626|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31382929|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31472684|PMID:31611883|PMID:31617914|PMID:31658756|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31794323|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183301|PMID:32183364|PMID:32283892|PMID:32325837|PMID:32338768|PMID:32427313|PMID:32521533|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33168809|PMID:33181636|PMID:33239428|PMID:33240400|PMID:33280026|PMID:33309985|PMID:33359728|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33558524|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34009545|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34204722|PMID:34262154|PMID:34271781|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34477817|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35047863|PMID:35085662|PMID:35154108|PMID:35171259|PMID:35245693|PMID:35264596|PMID:35284771|PMID:35365198|PMID:35467778|PMID:35495172|PMID:35708139|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35980532|PMID:36029002|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36446039|PMID:36555667 8708960 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:36568162|PMID:36672847|PMID:36704080|PMID:36898365|PMID:36988593|PMID:37088804|PMID:37262986|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14562025|PMID:14627829|PMID:14628072|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15101044|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:1739584|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18164969|PMID:18321536|PMID:18431795|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19638463|PMID:19691550|PMID:19779456|PMID:19781682|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21164480|PMID:21346221|PMID:21396839|PMID:21445571|PMID:21514219|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:22006793|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24568663|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24853695|PMID:24886963|PMID:24935205|PMID:24951259|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25318351|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25862857|PMID:25882375|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26164066|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26320869|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104 8708960 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27043212|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27153395|PMID:27322425|PMID:27375234|PMID:27443514|PMID:27460089|PMID:27468087|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27692705|PMID:27720647|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28888541|PMID:29058119|PMID:29127364|PMID:29335925|PMID:29356034|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29445900|PMID:29449433|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29785153|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30339652|PMID:30363071|PMID:30425284|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30662270|PMID:30697212|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31382929|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31472684|PMID:31611883|PMID:31617914|PMID:31658756|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31794323|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183301|PMID:32183364|PMID:32283892|PMID:32325837|PMID:32338768|PMID:32427313|PMID:32521533|PMID:32522261|PMID:32566746|PMID:32581083|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32748564|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33168809|PMID:33181636|PMID:33239428|PMID:33240400|PMID:33280026|PMID:33309985|PMID:33359728|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33558524|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34009545|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34204722|PMID:34262154|PMID:34271781|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34477817|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35085662|PMID:35145552|PMID:35154108|PMID:35171259|PMID:35245693|PMID:35264596|PMID:35284771 8708960 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:35365198|PMID:35402282|PMID:35467778|PMID:35495172|PMID:35708139|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35886069|PMID:35980532|PMID:36029002|PMID:36091166|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36446039|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36672847|PMID:36704080|PMID:36898365|PMID:36988593|PMID:37088804|PMID:37262986|PMID:4012663|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14562025|PMID:14627829|PMID:14628072|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15101044|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:1739584|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18164969|PMID:18321536|PMID:18431795|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19638463|PMID:19691550|PMID:19779456|PMID:19781682|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21164480|PMID:21346221|PMID:21396839|PMID:21445571|PMID:21514219|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:22006793|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24568663|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24853695|PMID:24886963|PMID:24935205|PMID:24951259|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25318351|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25862857|PMID:25882375|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26164066|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26320869|PMID:26380989|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949 8708960 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27043212|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27153395|PMID:27322425|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27692705|PMID:27720647|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28888541|PMID:29058119|PMID:29127364|PMID:29335925|PMID:29356034|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29445900|PMID:29449433|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29785153|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967250|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30339652|PMID:30363071|PMID:30425284|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30662270|PMID:30697212|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31382929|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31472684|PMID:31611883|PMID:31617914|PMID:31658756|PMID:31666926|PMID:31704732|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31794323|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183301|PMID:32183364|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32427313|PMID:32521533|PMID:32522261|PMID:32566746|PMID:32581083|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32748564|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33168809|PMID:33181636|PMID:33239428|PMID:33240400|PMID:33280026|PMID:33309985|PMID:33359728|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33558524|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34009545|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34204722|PMID:34250389|PMID:34262154|PMID:34271781|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34477817|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:35029067|PMID:35039564 8708960 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:35047863|PMID:35085662|PMID:35145552|PMID:35154108|PMID:35171259|PMID:35245693|PMID:35264596|PMID:35284771|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35495172|PMID:35534704|PMID:35708139|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35886069|PMID:35980532|PMID:36029002|PMID:36091166|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36446039|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36672847|PMID:36704080|PMID:36898365|PMID:36988593|PMID:37088804|PMID:37262986|PMID:37436117|PMID:4012663|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:35029067|PMID:35039564|PMID:35047863|PMID:35085662|PMID:35145552|PMID:35154108|PMID:35171259|PMID:35245693|PMID:35264596|PMID:35284771|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35495172|PMID:35534704|PMID:35599270|PMID:35708139|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35886069|PMID:35980532|PMID:36029002|PMID:36091166|PMID:36119527|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36446039|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36672847|PMID:36704080|PMID:36898365|PMID:36988593|PMID:37088804|PMID:37262986|PMID:37436117|PMID:37438524|PMID:4012663|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14562025|PMID:14627829|PMID:14628072|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15101044|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:1739584|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18164969|PMID:18321536|PMID:18431795|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19638463|PMID:19650357|PMID:19691550|PMID:19779456|PMID:19781682|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21164480|PMID:21346221|PMID:21396839|PMID:21445571|PMID:21514219|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:22006793|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24568663|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24853695|PMID:24886963|PMID:24935205|PMID:24951259|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25318351|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25862857|PMID:25882375|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26164066|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26320869|PMID:26380989|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949 8708960 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27043212|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27153395|PMID:27322425|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27692705|PMID:27720647|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28888541|PMID:29058119|PMID:29127364|PMID:29335925|PMID:29356034|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29445900|PMID:29449433|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29785153|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967250|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30339652|PMID:30363071|PMID:30425284|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30662270|PMID:30697212|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31382929|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31472684|PMID:31611883|PMID:31617914|PMID:31658756|PMID:31666926|PMID:31704732|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31794323|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183301|PMID:32183364|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32427313|PMID:32521533|PMID:32522261|PMID:32548172|PMID:32566746|PMID:32581083|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32748564|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33168809|PMID:33181636|PMID:33239428|PMID:33240400|PMID:33280026|PMID:33309985|PMID:33359728|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33558524|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34009545|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34204722|PMID:34250389|PMID:34262154|PMID:34271781|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34477817|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:35029067 8708960 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:35039564|PMID:35047863|PMID:35085662|PMID:35145552|PMID:35154108|PMID:35171259|PMID:35245693|PMID:35264596|PMID:35284771|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35495172|PMID:35534704|PMID:35599270|PMID:35708139|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35886069|PMID:35980532|PMID:36029002|PMID:36091166|PMID:36119527|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36672847|PMID:36704080|PMID:36898365|PMID:36988593|PMID:37088804|PMID:37436117|PMID:37438524|PMID:4012663|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14562025|PMID:14627829|PMID:14628072|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15101044|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:1739584|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18164969|PMID:18321536|PMID:18431795|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19638463|PMID:19650357|PMID:19691550|PMID:19779456|PMID:19781682|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21164480|PMID:21346221|PMID:21396839|PMID:21445571|PMID:21514219|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:22006793|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24568663|PMID:24584352|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24853695|PMID:24886963|PMID:24935205|PMID:24951259|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25318351|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25862857|PMID:25882375|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26164066|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26320869|PMID:26380989|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26536348|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:2677459 8708960 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20250218 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27043212|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27153395|PMID:27322425|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27692705|PMID:27714650|PMID:27720647|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28569743|PMID:28580595|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28888541|PMID:29058119|PMID:29127364|PMID:29335925|PMID:29356034|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29445900|PMID:29449433|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29785153|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29958926|PMID:29967250|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30339652|PMID:30363071|PMID:30425284|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30662270|PMID:30697212|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31382929|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31472684|PMID:31611883|PMID:31617914|PMID:31658756|PMID:31666926|PMID:31704732|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31794323|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183301|PMID:32183364|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32371905|PMID:32427313|PMID:32521533|PMID:32522261|PMID:32548172|PMID:32566746|PMID:32581083|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32748564|PMID:32754152|PMID:32782288|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33168809|PMID:33181636|PMID:33239428|PMID:33240400|PMID:33280026|PMID:33309985|PMID:33359728|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33558524|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34009545|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34204722|PMID:34250389|PMID:34262154|PMID:34271781|PMID:34299313|PMID:34301788|PMID:34308104 8708960 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:34326862|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34477817|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078817|PMID:35085662|PMID:35095854|PMID:35145552|PMID:35154108|PMID:35171259|PMID:35245693|PMID:35264596|PMID:35284771|PMID:35365198|PMID:35402282|PMID:35449110|PMID:35451682|PMID:35467778|PMID:35495172|PMID:35534704|PMID:35599270|PMID:35708139|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35884425|PMID:35886069|PMID:35957908|PMID:35980532|PMID:36029002|PMID:36091166|PMID:36094610|PMID:36119527|PMID:36155879|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36446039|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36672847|PMID:36685941|PMID:36703223|PMID:36704080|PMID:36845387|PMID:36898365|PMID:36983044|PMID:36988593|PMID:37088804|PMID:37091313|PMID:37262986|PMID:37349538|PMID:37436117|PMID:37438524|PMID:37536918|PMID:37762649|PMID:38147532|PMID:38156855|PMID:38489015|PMID:38854973|PMID:38874686|PMID:4012663|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:162 cancer ISO RGD:1606040 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: ATM-related cancer predisposition PMID:10234507|PMID:10330348|PMID:10706620|PMID:10817650|PMID:10864201|PMID:10873394|PMID:11382771|PMID:11606401|PMID:11756177|PMID:11756185|PMID:12091354|PMID:12552559|PMID:12552566|PMID:12815592|PMID:12883528|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15928302|PMID:16266405|PMID:16832357|PMID:16941484|PMID:17124347|PMID:17576681|PMID:17910737|PMID:18384426|PMID:18497957|PMID:18573109|PMID:18634022|PMID:18846412|PMID:19224889|PMID:19431188|PMID:19691550|PMID:19781682|PMID:19823873|PMID:20153123|PMID:20301790|PMID:20305132|PMID:20308662|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22006793|PMID:22071889|PMID:22213089|PMID:22529920|PMID:22585167|PMID:22649200|PMID:23143971|PMID:23322442|PMID:23454770|PMID:23585524|PMID:23640770|PMID:23726790|PMID:23807571|PMID:24733792|PMID:25037873|PMID:25040471|PMID:25077176|PMID:25101980|PMID:25133958|PMID:25186627|PMID:25326635|PMID:25374739|PMID:25503501|PMID:25525159|PMID:25614872|PMID:25741868|PMID:25892863|PMID:26094658|PMID:26182300|PMID:26270727|PMID:26467025|PMID:26506520|PMID:26534844|PMID:26681312|PMID:26689913|PMID:26786923|PMID:26896183|PMID:27153395|PMID:27433846|PMID:27484032|PMID:27595995|PMID:27599564|PMID:27664052|PMID:27884168|PMID:27978560|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28125075|PMID:28492532|PMID:28652578|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28975465|PMID:29053726|PMID:29478780|PMID:29482223|PMID:29522266|PMID:29555025|PMID:29625052|PMID:29665859|PMID:29752822|PMID:29753700|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29961768|PMID:30128536|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30620386|PMID:30697212|PMID:30713859|PMID:30772474|PMID:30816533|PMID:30819809|PMID:30982232|PMID:31050087|PMID:31214711|PMID:31285527|PMID:31472684|PMID:31589614|PMID:31611883|PMID:31691010|PMID:31741144|PMID:31784493|PMID:31794323|PMID:31815095|PMID:31843900|PMID:31948886|PMID:32002120|PMID:32255556|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32427313|PMID:32471518|PMID:32521533|PMID:32658311|PMID:32694154|PMID:32748564|PMID:32756499|PMID:32810930|PMID:32853339|PMID:32866655|PMID:32918381|PMID:33280026|PMID:33436325|PMID:33471991|PMID:33547824|PMID:33624863|PMID:34107524|PMID:34337741|PMID:35047863|PMID:35078243|PMID:35095854|PMID:35257272|PMID:35273153|PMID:35365198|PMID:36988593|PMID:37306523|PMID:37438524|PMID:581456|PMID:8659541|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8808599|PMID:8845835|PMID:9259193|PMID:9334731|PMID:9443866|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9711876|PMID:9792409|PMID:9872980|PMID:9887333 8708960 Atm ATM serine/threonine kinase gene DOID:1749 squamous cell carcinoma ISO RGD:1606040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25125259 8708960 Atm ATM serine/threonine kinase gene DOID:1781 thyroid cancer ISO RGD:1606040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thyroid cancer PMID:28492532 8708960 Atm ATM serine/threonine kinase gene DOID:1793 pancreatic cancer ISO RGD:1606040 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Pancreatic cancer PMID:16941484|PMID:17124347|PMID:17576681|PMID:17910737|PMID:19691550|PMID:21965147|PMID:22071889|PMID:22213089|PMID:25741868|PMID:26467025|PMID:26896183|PMID:27599564|PMID:28492532|PMID:29625052|PMID:29665859|PMID:30620386|PMID:30819809|PMID:31741144|PMID:32325837|PMID:32658311|PMID:32748564|PMID:33624863|PMID:34107524|PMID:35257272|PMID:8698354|PMID:8845835|PMID:9497252|PMID:9536098|PMID:9792409|PMID:9887333 8708960 Atm ATM serine/threonine kinase gene DOID:1793 pancreatic cancer susceptibility ISO RGD:1606040 D RGD:9068941 20200609 RGD DNA:SNP:exon:rs1801516(human) PMID:19147782|REF_RGD_ID:2317363 8708960 Atm ATM serine/threonine kinase gene DOID:1824 status epilepticus ISO RGD:1593265 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:11852039|REF_RGD_ID:1599366 8708960 Atm ATM serine/threonine kinase gene DOID:1909 melanoma ISO RGD:1606040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21983787 8708960 Atm ATM serine/threonine kinase gene DOID:219 colon cancer ISO RGD:1606040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colon cancer 8708960 Atm ATM serine/threonine kinase gene DOID:2349 arteriosclerosis susceptibility ISO RGD:10199 D RGD:9068941 20200609 RGD PMID:15863839|REF_RGD_ID:1601249 8708960 Atm ATM serine/threonine kinase gene DOID:2394 ovarian cancer ISO RGD:1606040 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Ovarian cancer PMID:10330348|PMID:10817650|PMID:10873394|PMID:11756185|PMID:11996792|PMID:12091354|PMID:12473594|PMID:12552559|PMID:12673797|PMID:12917204|PMID:12935922|PMID:14706517|PMID:15756685|PMID:17333338|PMID:18634022|PMID:19404735|PMID:19781682|PMID:20301790|PMID:20305132|PMID:21665257|PMID:21933854|PMID:21993670|PMID:22529920|PMID:22585167|PMID:23555315|PMID:23807571|PMID:24728327|PMID:25085752|PMID:25318351|PMID:25326635|PMID:25503501|PMID:25614872|PMID:25741868|PMID:25980754|PMID:26094658|PMID:26155992|PMID:26270727|PMID:26467025|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26681312|PMID:26689913|PMID:26787654|PMID:26976419|PMID:27093186|PMID:27595995|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:28007021|PMID:28008555|PMID:28135048|PMID:28135145|PMID:28281318|PMID:28492532|PMID:28580595|PMID:28652578|PMID:28726808|PMID:28779002|PMID:29317520|PMID:29522266|PMID:29641532|PMID:29684080|PMID:30093976|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30374176|PMID:30549301|PMID:31050087|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31248605|PMID:31285527|PMID:31422574|PMID:31666926|PMID:31742824|PMID:31780696|PMID:31867841|PMID:31871109|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32107087|PMID:32566746|PMID:32658311|PMID:32866190|PMID:32885271|PMID:32936981|PMID:33206719|PMID:33240400|PMID:33309985|PMID:33395407|PMID:33436325|PMID:33471991|PMID:33552952|PMID:35171259|PMID:35245693|PMID:35264596|PMID:35534704|PMID:36018153|PMID:36243179|PMID:38509102|PMID:8659541|PMID:9443866|PMID:9463314|PMID:9872980 8708960 Atm ATM serine/threonine kinase gene DOID:2871 endometrial carcinoma ISO RGD:1606040 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:10425038|PMID:11298136|PMID:12673797|PMID:12810666|PMID:12815592|PMID:1300551|PMID:133608|PMID:19781682|PMID:20301790|PMID:21445571|PMID:21787400|PMID:22585167|PMID:23322442|PMID:23555315|PMID:23807571|PMID:24728327|PMID:25085752|PMID:25186627|PMID:25614872|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26506520|PMID:26689913|PMID:26787654|PMID:26837699|PMID:27443514|PMID:27595995|PMID:27884168|PMID:27978560|PMID:28152038|PMID:28492532|PMID:28873162|PMID:29486991|PMID:29625052|PMID:29659569|PMID:30192042|PMID:30338439|PMID:30651582|PMID:31050087|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31611883|PMID:31741144|PMID:31920950|PMID:32315455|PMID:32461654|PMID:32832836|PMID:33280026|PMID:33436325|PMID:33462019|PMID:33558524|PMID:34204722|PMID:34337741|PMID:35264596|PMID:35451682|PMID:35652560|PMID:36521553|PMID:38520597|PMID:38874686|PMID:8845835|PMID:8968760 8708960 Atm ATM serine/threonine kinase gene DOID:299 adenocarcinoma ISO RGD:1606040 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Adenocarcinoma PMID:10330348|PMID:10817650|PMID:10980530|PMID:12810666|PMID:15390180|PMID:16266405|PMID:17576681|PMID:20153123|PMID:22585167|PMID:25614872|PMID:25741868|PMID:26467025|PMID:26506520|PMID:27159176|PMID:28492532|PMID:29678143|PMID:30426508|PMID:30772474|PMID:31012270|PMID:31921190|PMID:34377931|PMID:36029002|PMID:36988593|PMID:37445923|PMID:9443866|PMID:9536098|PMID:9887333 8708960 Atm ATM serine/threonine kinase gene DOID:3068 glioblastoma ISO RGD:1606040 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Glioblastoma PMID:19781682|PMID:23322442|PMID:23807571|PMID:25525159|PMID:25614872|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9054948 8708960 Atm ATM serine/threonine kinase gene DOID:3070 high grade glioma ISO RGD:1606040 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Malignant glioma PMID:10330348|PMID:10817650|PMID:10980530|PMID:11298136|PMID:12552559|PMID:21445571|PMID:21459046|PMID:21792198|PMID:25741868|PMID:26681312|PMID:26896183|PMID:28492532|PMID:29478780|PMID:30549301|PMID:33471991|PMID:8659541|PMID:8808599|PMID:9000145|PMID:9463314 8708960 Atm ATM serine/threonine kinase gene DOID:3459 breast carcinoma ISO RGD:1606040 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast carcinoma | ClinVar Annotator: match by term: Carcinoma of breast | ClinVar Annotator: match by term: Multifocal breast carcinoma PMID:10330348|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11606401|PMID:11805335|PMID:12810666|PMID:12815592|PMID:15039971|PMID:15279808|PMID:15390180|PMID:16014569|PMID:16266405|PMID:16832357|PMID:16864838|PMID:17124347|PMID:17344846|PMID:17576681|PMID:18384426|PMID:18634022|PMID:19431188|PMID:19535770|PMID:19605768|PMID:19691550|PMID:20153123|PMID:20301790|PMID:21354641|PMID:21445571|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21933854|PMID:21965147|PMID:22146522|PMID:22213089|PMID:22529920|PMID:22585167|PMID:23264026|PMID:23585524|PMID:23807571|PMID:25077176|PMID:25122203|PMID:25479140|PMID:2557216|PMID:25572163|PMID:25614872|PMID:25741868|PMID:25957637|PMID:25980754|PMID:26467025|PMID:26506520|PMID:26681312|PMID:26787654|PMID:26837699|PMID:26976419|PMID:27159176|PMID:27433846|PMID:27484032|PMID:27664052|PMID:27884168|PMID:28120234|PMID:28126470|PMID:28492532|PMID:28580595|PMID:28652578|PMID:28726808|PMID:28779002|PMID:28843361|PMID:29478780|PMID:29909963|PMID:30303537|PMID:30322717|PMID:30549301|PMID:30579816|PMID:30819809|PMID:31050087|PMID:31159747|PMID:31741144|PMID:32658311|PMID:32854451|PMID:32957588|PMID:33280026|PMID:8755918|PMID:9463314|PMID:9536098|PMID:9622061|PMID:9887333 8708960 Atm ATM serine/threonine kinase gene DOID:3459 breast carcinoma ISO RGD:1606040 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Breast carcinoma | ClinVar Annotator: match by term: Carcinoma of breast | ClinVar Annotator: match by term: Multifocal breast carcinoma PMID:10330348|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11606401|PMID:11805335|PMID:12072877|PMID:12552559|PMID:12810666|PMID:12815592|PMID:15039971|PMID:15279808|PMID:15390180|PMID:15928302|PMID:16014569|PMID:16266405|PMID:16832357|PMID:16864838|PMID:17124347|PMID:17344846|PMID:17576681|PMID:18384426|PMID:18634022|PMID:19431188|PMID:19535770|PMID:19605768|PMID:19691550|PMID:20153123|PMID:20301790|PMID:21354641|PMID:21445571|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21933854|PMID:21965147|PMID:22146522|PMID:22213089|PMID:22529920|PMID:22585167|PMID:23264026|PMID:23585524|PMID:23807571|PMID:25040471|PMID:25077176|PMID:25085752|PMID:25122203|PMID:25479140|PMID:2557216|PMID:25572163|PMID:25614872|PMID:25741868|PMID:25957637|PMID:25980754|PMID:26182300|PMID:26467025|PMID:26506520|PMID:26681312|PMID:26689913|PMID:26787654|PMID:26837699|PMID:26896183|PMID:26976419|PMID:27159176|PMID:27433846|PMID:27484032|PMID:27664052|PMID:27884168|PMID:28120234|PMID:28126470|PMID:28492532|PMID:28580595|PMID:28652578|PMID:28726808|PMID:28779002|PMID:28843361|PMID:29478780|PMID:29625052|PMID:29678143|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29961768|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30426508|PMID:30549301|PMID:30579816|PMID:30772474|PMID:30819809|PMID:31012270|PMID:31050087|PMID:31159747|PMID:31341520|PMID:31589614|PMID:31741144|PMID:31921190|PMID:31948886|PMID:32338768|PMID:32558426|PMID:32658311|PMID:32694154|PMID:32853339|PMID:32854451|PMID:32875559|PMID:32957588|PMID:33280026|PMID:33436325|PMID:33471991|PMID:34337741|PMID:34377931|PMID:34445196|PMID:34718612|PMID:35078243|PMID:36029002|PMID:36988593|PMID:37091313|PMID:37445923|PMID:38355628|PMID:8755918|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9622061|PMID:9887333 8708960 Atm ATM serine/threonine kinase gene DOID:3459 breast carcinoma disease_progression ISO RGD:1606040 D RGD:9068941 20200609 RGD protein:decreased expression:lymph node PMID:10748873|REF_RGD_ID:1643351 8708960 Atm ATM serine/threonine kinase gene DOID:3571 liver cancer ameliorates ISO RGD:10199 D RGD:9068941 20210903 RGD PMID:19919837|REF_RGD_ID:150340702 8708960 Atm ATM serine/threonine kinase gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:1606040 D RGD:9068941 20210903 RGD Smoke Inhalation Injury; mRNA:increased expression:esophagus (human) PMID:17019709|REF_RGD_ID:150340713 8708960 Atm ATM serine/threonine kinase gene DOID:3907 lung squamous cell carcinoma susceptibility ISO RGD:1606040 D RGD:9068941 20210903 RGD DNA:SNP:intron:(rs228589) (human) PMID:28642860|REF_RGD_ID:150383339 8708960 Atm ATM serine/threonine kinase gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:1606040 D RGD:9068941 20210903 RGD DNA:SNPs,haplotypes:intron: (rs227060, rs170548) (human) PMID:17582598|REF_RGD_ID:150383340 8708960 Atm ATM serine/threonine kinase gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1606040 D RGD:9068941 20210903 RGD human cells in mouse model PMID:23632475|REF_RGD_ID:150404268 8708960 Atm ATM serine/threonine kinase gene DOID:3944 Arenaviridae infectious disease ISO RGD:10199 D RGD:9068941 20210409 RGD PMID:21641396|REF_RGD_ID:126779561 8708960 Atm ATM serine/threonine kinase gene DOID:3969 papillary thyroid carcinoma ISO RGD:1606040 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Papillary thyroid carcinoma PMID:19404735|PMID:20305132|PMID:23555315|PMID:25085752|PMID:25186627|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26901136|PMID:28135145|PMID:28492532|PMID:28652578|PMID:28717660|PMID:28779002|PMID:29659569|PMID:30256826|PMID:30303537|PMID:30613976|PMID:31159747|PMID:31742824|PMID:32113160|PMID:32522261|PMID:33471991|PMID:34262154|PMID:34326862|PMID:34646395|PMID:35264596|PMID:36099812|PMID:36243179|PMID:37262986 8708960 Atm ATM serine/threonine kinase gene DOID:3969 papillary thyroid carcinoma susceptibility ISO RGD:1606040 D RGD:9068941 20231026 RGD associated with Radiation-Induced Neoplasms;DNA:SNPs,haplotypes:exon 39,intron 22,intron 48: p.D1853N, IVS22-77 T>C, IVS48 + 238 C>G (rs1801516, rs664677, rs609429) PMID:19286843|REF_RGD_ID:401850780 8708960 Atm ATM serine/threonine kinase gene DOID:4001 ovarian carcinoma ISO RGD:1606040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian carcinoma PMID:10330348|PMID:10817650|PMID:16461462|PMID:17124347|PMID:23807571|PMID:25614872|PMID:25741868|PMID:28492532 8708960 Atm ATM serine/threonine kinase gene DOID:4450 renal cell carcinoma ISO RGD:1606040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma PMID:10571946 8708960 Atm ATM serine/threonine kinase gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1606040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney PMID:10980530|PMID:18560558|PMID:19431188|PMID:19691550|PMID:19779456|PMID:25186627|PMID:25741868|PMID:26628246|PMID:28492532|PMID:29522266|PMID:33747920|PMID:8755918|PMID:9792409 8708960 Atm ATM serine/threonine kinase gene DOID:4606 bile duct cancer ISO RGD:1606040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bile duct cancer PMID:17124347|PMID:20077034|PMID:25741868|PMID:26635394|PMID:28492532|PMID:9887333 8708960 Atm ATM serine/threonine kinase gene DOID:4905 pancreatic carcinoma ISO RGD:1606040 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Carcinoma of pancreas | ClinVar Annotator: match by term: PANCREATIC CARCINOMA PMID:10330348|PMID:10817650|PMID:10980530|PMID:12497634|PMID:12673797|PMID:12810666|PMID:14586414|PMID:14970866|PMID:15101044|PMID:15390180|PMID:16266405|PMID:17576681|PMID:1849795|PMID:18497957|PMID:20153123|PMID:20301790|PMID:21833744|PMID:22585167|PMID:23454770|PMID:23807571|PMID:24556621|PMID:25614872|PMID:25741868|PMID:26270727|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26822949|PMID:27159176|PMID:27595995|PMID:27884168|PMID:27978560|PMID:28492532|PMID:29678143|PMID:29758562|PMID:30426508|PMID:30772474|PMID:31012270|PMID:31921190|PMID:32295079|PMID:3338800|PMID:33919281|PMID:34337741|PMID:34377931|PMID:34680878|PMID:35078243|PMID:36029002|PMID:36988593|PMID:37091313|PMID:37445923|PMID:8808599|PMID:9443866|PMID:9536098|PMID:988733|PMID:9887333 8708960 Atm ATM serine/threonine kinase gene DOID:5082 liver cirrhosis ISO RGD:1606040 D RGD:9068941 20230518 CTD CTD Direct Evidence: marker/mechanism PMID:36526012 8708960 Atm ATM serine/threonine kinase gene DOID:5223 infertility ISO RGD:1593265 D RGD:9068941 20200609 RGD DNA:deletion:exon: PMID:28007901|REF_RGD_ID:12879399 8708960 Atm ATM serine/threonine kinase gene DOID:5223 infertility ISO RGD:1593265 D RGD:9068941 20200609 RGD DNA:missense mutation:cds: PMID:27895165|REF_RGD_ID:12879393 8708960 Atm ATM serine/threonine kinase gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1606040 D RGD:9068941 20210430 RGD protein:decreased expression:T cell (human) PMID:31781094|REF_RGD_ID:126790561 8708960 Atm ATM serine/threonine kinase gene DOID:5409 lung small cell carcinoma susceptibility ISO RGD:1606040 D RGD:9068941 20210903 RGD DNA:SNP:intron:(rs227060) (human) PMID:28642860|REF_RGD_ID:150383339 8708960 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome PMID:10330348|PMID:10397742|PMID:10425038|PMID:10464642|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11996792|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:14562025|PMID:14586414|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15159313|PMID:15217508|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17187232|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18497957|PMID:18573109|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20124459|PMID:20232390|PMID:20305132|PMID:20308662|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:21445571|PMID:21459046|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24326041|PMID:24416720|PMID:24451234|PMID:24549055|PMID:24556621|PMID:24695838|PMID:24728327|PMID:24834793|PMID:24886963|PMID:24954719|PMID:25040471|PMID:25077176|PMID:25148578|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25356970|PMID:25374739|PMID:25479140|PMID:25480502|PMID:25523272|PMID:25525159|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25862857|PMID:25938944|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26206375|PMID:26207792|PMID:26220245|PMID:26250988|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26580448|PMID:26628246|PMID:26635394|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27484032|PMID:27568332|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27782108|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27959900|PMID:27978560|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29522266|PMID:29641532|PMID:29642553|PMID:29678143|PMID:29684080|PMID:29778231|PMID:29909963|PMID:30067863|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30374176 8708960 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome PMID:30541756|PMID:30549301|PMID:30553997|PMID:30819809|PMID:30851086|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31422574|PMID:31428572|PMID:31666926|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31867841|PMID:31871109|PMID:31920950|PMID:31942411|PMID:32039725|PMID:32068069|PMID:32183364|PMID:32295079|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32866190|PMID:32958592|PMID:32986223|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33436325|PMID:33471991|PMID:33606809|PMID:33630411|PMID:34204722|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10330348|PMID:10397742|PMID:10425038|PMID:10464642|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:14562025|PMID:14586414|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15159313|PMID:15217508|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19081671|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20232390|PMID:20305132|PMID:20308662|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21396839|PMID:21445571|PMID:21459046|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24326041|PMID:24416720|PMID:24451234|PMID:24549055|PMID:24556621|PMID:24695838|PMID:24728327|PMID:24834793|PMID:24886963|PMID:24954719|PMID:25040471|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25148578|PMID:25182519|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25356970|PMID:25374739|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25862857|PMID:25938944|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26206375|PMID:26207792|PMID:26220245|PMID:26250988|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26635394|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27484032|PMID:27568332|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27782108|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27959900|PMID:27978560|PMID:27989354|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28451460 8708960 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:28492532|PMID:28503720|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29482223|PMID:29522266|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29778231|PMID:29909963|PMID:30067863|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30374176|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30819809|PMID:30851086|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31227566|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31867841|PMID:31871109|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32183364|PMID:32295079|PMID:32338768|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32853339|PMID:32866190|PMID:32958592|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33606809|PMID:33630411|PMID:33747920|PMID:33850299|PMID:34204722|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10330348|PMID:10397742|PMID:10425038|PMID:10464642|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:14562025|PMID:14586414|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15159313|PMID:15217508|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19081671|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20232390|PMID:20305132|PMID:20308662|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21396839|PMID:21445571|PMID:21459046|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24326041|PMID:24416720|PMID:24549055|PMID:24556621|PMID:24695838|PMID:24728327|PMID:24834793|PMID:24886963|PMID:24954719|PMID:25040471|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25148578|PMID:25182519|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25326637|PMID:25356970|PMID:25374739|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25862857|PMID:25938944|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26206375|PMID:26207792|PMID:26220245|PMID:26250988|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26635394|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27484032|PMID:27568332|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27782108|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27959900|PMID:27978560|PMID:27989354|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476 8708960 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:28451460|PMID:28492532|PMID:28503720|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29482223|PMID:29522266|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29778231|PMID:29909963|PMID:30067863|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30374176|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30819809|PMID:30851086|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31227566|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31867841|PMID:31871109|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32183364|PMID:32295079|PMID:32338768|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32853339|PMID:32866190|PMID:32958592|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:34204722|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:28196074|PMID:28202063|PMID:28259476|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29778231|PMID:29909963|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30374176|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30772474|PMID:30819809|PMID:30851086|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31227566|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31867841|PMID:31871109|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32183364|PMID:32295079|PMID:32338768|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32756499|PMID:32853339|PMID:32866190|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33181636|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33552952|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:34204722|PMID:34359559|PMID:34646395|PMID:34994613|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10330348|PMID:10397742|PMID:10425038|PMID:10464642|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:14562025|PMID:14586414|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15159313|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19081671|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20232390|PMID:20305132|PMID:20308662|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21396839|PMID:21445571|PMID:21459046|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24326041|PMID:24416720|PMID:24549055|PMID:24556621|PMID:24695838|PMID:24728327|PMID:24834793|PMID:24886963|PMID:24954719|PMID:25040471|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25148578|PMID:25182519|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25356970|PMID:25374739|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25862857|PMID:25938944|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26206375|PMID:26207792|PMID:26220245|PMID:26250988|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26635394|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27484032|PMID:27568332|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27782108|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27959900|PMID:27978560|PMID:27989354|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393 8708960 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:28196074|PMID:28202063|PMID:28259476|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29778231|PMID:29909963|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30374176|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30613976|PMID:30772474|PMID:30819809|PMID:30851086|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31227566|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31867841|PMID:31871109|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32183364|PMID:32295079|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32756499|PMID:32853339|PMID:32866190|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33181636|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33552952|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:34204722|PMID:34262154|PMID:34359559|PMID:34646395|PMID:34994613|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:14562025|PMID:14586414|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19081671|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20232390|PMID:20305132|PMID:20308662|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21396839|PMID:21445571|PMID:21459046|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24326041|PMID:24416720|PMID:24549055|PMID:24556621|PMID:24695838|PMID:24728327|PMID:24834793|PMID:24886963|PMID:24954719|PMID:25040471|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25148578|PMID:25182519|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25356970|PMID:25374739|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25862857|PMID:25938944|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26206375|PMID:26207792|PMID:26220245|PMID:26250988|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26635394|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27484032|PMID:27568332|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27782108|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27959900|PMID:27978560|PMID:27989354|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063 8708960 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:28259476|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29778231|PMID:29909963|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30374176|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30613976|PMID:30772474|PMID:30819809|PMID:30851086|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31227566|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31867841|PMID:31871109|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32183364|PMID:32295079|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32756499|PMID:32853339|PMID:32866190|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33181636|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33552952|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:34204722|PMID:34262154|PMID:34359559|PMID:34646395|PMID:34994613|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:14562025|PMID:14586414|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19081671|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20308662|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21396839|PMID:21445571|PMID:21459046|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24326041|PMID:24416720|PMID:24549055|PMID:24556621|PMID:24695838|PMID:24728327|PMID:24834793|PMID:24886963|PMID:24954719|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25148578|PMID:25182519|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25356970|PMID:25374739|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25862857|PMID:25938944|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26206375|PMID:26207792|PMID:26220245|PMID:26250988|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26635394|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27224988|PMID:27365426|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27484032|PMID:27568332|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27782108|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27989354 8708960 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29778231|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29922827|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30613976|PMID:30666157|PMID:30772474|PMID:30851086|PMID:30957677|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31227566|PMID:31285527|PMID:31350202|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31867841|PMID:31871109|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183364|PMID:32295079|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32756499|PMID:32782288|PMID:32853339|PMID:32866190|PMID:32885271|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33544757|PMID:33552952|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33939675|PMID:34204722|PMID:34250389|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34646395|PMID:34994613|PMID:35534218|PMID:35666082|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:14562025|PMID:14586414|PMID:14643952|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15174027|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19081671|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19638463|PMID:19691550|PMID:19781682|PMID:19823873|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20308662|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21396839|PMID:21445571|PMID:21459046|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23774824|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24549055|PMID:24556621|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24886963|PMID:24954719|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25148578|PMID:25182519|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25326637|PMID:25356970|PMID:25374739|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25862857|PMID:25938944|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26206375|PMID:26207792|PMID:26220245|PMID:26250988|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27224988|PMID:27365426 8708960 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27484032|PMID:27528516|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28008555|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28423360|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29778231|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30426508|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30613976|PMID:30666157|PMID:30772474|PMID:30851086|PMID:30957677|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31227566|PMID:31263571|PMID:31285527|PMID:31350202|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31638252|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:3217261|PMID:32172615|PMID:32183364|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32866190|PMID:32885271|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33509806|PMID:33544757|PMID:33552952|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33939675|PMID:34204722|PMID:34250389|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34646395|PMID:34994613|PMID:35039564|PMID:35245693|PMID:35264596|PMID:35534218|PMID:35666082|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27484032|PMID:27528516|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28008555|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28423360|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29778231|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30426508|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30613976|PMID:30666157|PMID:30772474|PMID:30851086|PMID:30957677|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31227566|PMID:31263571|PMID:31285527|PMID:31350202|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31638252|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:3217261|PMID:32172615|PMID:32183364|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32866190|PMID:32885271|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33509806|PMID:33544757|PMID:33552952|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33939675|PMID:34204722|PMID:34250389|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34646395|PMID:34994613|PMID:35039564|PMID:35245693|PMID:35264596|PMID:35534218|PMID:35666082|PMID:35892882|PMID:35893033|PMID:36200007|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:14562025|PMID:14586414|PMID:14643952|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15174027|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19081671|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19638463|PMID:19691550|PMID:19781682|PMID:19823873|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20308662|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21396839|PMID:21445571|PMID:21459046|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23774824|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24549055|PMID:24556621|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24886963|PMID:24954719|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25148578|PMID:25182519|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25356970|PMID:25374739|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25862857|PMID:25938944|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26206375|PMID:26207792|PMID:26220245|PMID:26250988|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27224988|PMID:27365426 8708960 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27484032|PMID:27528516|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28008555|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28423360|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29778231|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30426508|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30613976|PMID:30666157|PMID:30772474|PMID:30851086|PMID:30957677|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31227566|PMID:31263571|PMID:31285527|PMID:31350202|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31638252|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:3217261|PMID:32172615|PMID:32183364|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32866190|PMID:32885271|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33509806|PMID:33544757|PMID:33552952|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33939675|PMID:34204722|PMID:34250389|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34646395|PMID:34755017|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35245693|PMID:35264596|PMID:35534218|PMID:35666082|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36167400|PMID:36200007|PMID:36568162|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27484032|PMID:27528516|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28008555|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28423360|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29778231|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30426508|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30613976|PMID:30666157|PMID:30772474|PMID:30851086|PMID:30957677|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31227566|PMID:31263571|PMID:31285527|PMID:31350202|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31638252|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:3217261|PMID:32172615|PMID:32183364|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32866190|PMID:32885271|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33509806|PMID:33544757|PMID:33552952|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33939675|PMID:34204722|PMID:34250389|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34646395|PMID:34755017|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35245693|PMID:35264596|PMID:35534218|PMID:35666082|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36167400|PMID:36200007|PMID:36315919|PMID:36568162|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27484032|PMID:27528516|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28008555|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28423360|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29360550|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29778231|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30426508|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30613976|PMID:30666157|PMID:30772474|PMID:30851086|PMID:30957677|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31227566|PMID:31263571|PMID:31285527|PMID:31350202|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31638252|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:3217261|PMID:32172615|PMID:32183364|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32866190|PMID:32885271|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33509806|PMID:33544757|PMID:33552952|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33939675|PMID:33980423|PMID:34204722|PMID:34250389|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34646395|PMID:34755017|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35245693|PMID:35264596|PMID:35534218|PMID:35666082|PMID:35716007|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36167400|PMID:36200007|PMID:36315919|PMID:36568162|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27484032|PMID:27528516|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28008555|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28423360|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29360550|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29758562|PMID:29778231|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30426508|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30613976|PMID:30666157|PMID:30772474|PMID:30851086|PMID:30957677|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31227566|PMID:31263571|PMID:31285527|PMID:31350202|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31638252|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:3217261|PMID:32172615|PMID:32183364|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32866190|PMID:32885271|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33509806|PMID:33544757|PMID:33552952|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33939675|PMID:33980423|PMID:34204722|PMID:34250389|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34646395|PMID:34755017|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35245693|PMID:35264596|PMID:35534218|PMID:35666082|PMID:35716007|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36167400|PMID:36200007|PMID:36315919|PMID:36568162|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:14562025|PMID:14586414|PMID:14628072|PMID:14643952|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15174027|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19081671|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19638463|PMID:19691550|PMID:19781682|PMID:19823873|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20308662|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21396839|PMID:21445571|PMID:21459046|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23774824|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24549055|PMID:24556621|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24886963|PMID:24954719|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25148578|PMID:25182519|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25326637|PMID:25356970|PMID:25374739|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25749350|PMID:25862857|PMID:25938944|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26182300|PMID:26206375|PMID:26207792|PMID:26220245|PMID:26250988|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186 8708960 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:27121310|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27224988|PMID:27365426|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27484032|PMID:27528516|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27994516|PMID:28008555|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28423360|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29360550|PMID:29371908|PMID:29445900|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29758562|PMID:29778231|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29961768|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30426508|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30772474|PMID:30851086|PMID:30957677|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31227566|PMID:31263571|PMID:31285527|PMID:31350202|PMID:31382929|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31589614|PMID:31611883|PMID:31638252|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32052936|PMID:32068069|PMID:32091409|PMID:32113160|PMID:32125938|PMID:3217261|PMID:32172615|PMID:32183364|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32371905|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33168809|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33240400|PMID:33280026|PMID:33309985|PMID:33359728|PMID:3338800|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33471191|PMID:33471991|PMID:33509806|PMID:33544757|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33939675|PMID:33980423|PMID:34009545|PMID:34117267|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34299313|PMID:34359559|PMID:34646395|PMID:34755017|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35085662|PMID:35098669|PMID:35245693|PMID:35264596|PMID:35495172|PMID:35534218|PMID:35666082|PMID:35708139|PMID:35716007|PMID:35717579|PMID:35763645|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36167400|PMID:36200007|PMID:36315919|PMID:36555667|PMID:36568162|PMID:36674612|PMID:36704080|PMID:36898365|PMID:36988593|PMID:37088804|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:14562025|PMID:14586414|PMID:14628072|PMID:14643952|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15174027|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19081671|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19638463|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20308662|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21396839|PMID:21445571|PMID:21459046|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23774824|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24549055|PMID:24556621|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24886963|PMID:24954719|PMID:25040471|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25148578|PMID:25182519|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25326637|PMID:25356970|PMID:25374739|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25749350|PMID:25862857|PMID:25938944|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26182300|PMID:26206375|PMID:26207792|PMID:26220245|PMID:26250988|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235 8708960 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27224988|PMID:27365426|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27484032|PMID:27528516|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27994516|PMID:28008555|PMID:28093192|PMID:28126470|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28423360|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28779002|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29360550|PMID:29371908|PMID:29445900|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29758562|PMID:29778231|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29961768|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30338439|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30426508|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30772474|PMID:30819809|PMID:30851086|PMID:30957677|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31227566|PMID:31263571|PMID:31285527|PMID:31350202|PMID:31382929|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31589614|PMID:31611883|PMID:31638252|PMID:31666926|PMID:31719806|PMID:31741144|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32052936|PMID:32068069|PMID:32091409|PMID:32113160|PMID:32125938|PMID:3217261|PMID:32172615|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32371905|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32748564|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33050356|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33168809|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33240400|PMID:33280026|PMID:33309985|PMID:33330270|PMID:33359728|PMID:3338800|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471191|PMID:33471991|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34009545|PMID:34107524|PMID:34117267|PMID:34199532|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34646395|PMID:34680878|PMID:34755017|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35085662|PMID:35098669|PMID:35245693|PMID:35257272|PMID:35264596|PMID:35312250|PMID:35451682|PMID:35495172|PMID:35534218|PMID:35666082|PMID:35708139|PMID:35716007|PMID:35717579|PMID:35763645|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36674612|PMID:36704080|PMID:36898365|PMID:36988593|PMID:37088804|PMID:581456|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233 8708960 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:14562025|PMID:14586414|PMID:14628072|PMID:14643952|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15174027|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19018867|PMID:19081671|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20308662|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21910157|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23726790|PMID:23774824|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24549055|PMID:24556621|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24886963|PMID:24951259|PMID:24954719|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25148578|PMID:25182519|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25326635|PMID:25356970|PMID:25374739|PMID:25452441|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25741916|PMID:25742471|PMID:25749350|PMID:25862857|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26182300|PMID:26206375|PMID:26207792|PMID:26220245|PMID:26250988 8708960 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:26270727|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27224988|PMID:27365426|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27528516|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27720647|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27994516|PMID:28007021|PMID:28008555|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28423360|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29360550|PMID:29371908|PMID:29445900|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29485843|PMID:29506128|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29758562|PMID:29778231|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29961768|PMID:30067863|PMID:30093976|PMID:30181556|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30425284|PMID:30426508|PMID:30447919|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30579816|PMID:30613976|PMID:30639167|PMID:30651582|PMID:30666157|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30836094|PMID:30851086|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31350202|PMID:31360874|PMID:31382929|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31589614|PMID:31611883|PMID:31638252|PMID:31666926|PMID:31719806|PMID:31741144|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32068069|PMID:32091409|PMID:32113160|PMID:32125938|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32371905|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32748564|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32866190|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33050356|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33168809|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33330270|PMID:33359728|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471191|PMID:33471991|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33875564|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34009545 8708960 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:34107524|PMID:34117267|PMID:34130653|PMID:34199532|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34445196|PMID:34573280|PMID:34646395|PMID:34680878|PMID:34755017|PMID:34761457|PMID:34994613|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35085662|PMID:35098669|PMID:35171259|PMID:35245693|PMID:35257272|PMID:35264596|PMID:35273153|PMID:35312250|PMID:35365198|PMID:35451682|PMID:35495172|PMID:35534218|PMID:35666082|PMID:35708139|PMID:35716007|PMID:35717579|PMID:35763645|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36674612|PMID:36704080|PMID:36898365|PMID:36988593|PMID:37088804|PMID:37436117|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:14562025|PMID:14586414|PMID:14628072|PMID:14643952|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15174027|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19018867|PMID:19081671|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19650357|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20308662|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21910157|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23726790|PMID:23774824|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24549055|PMID:24556621|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24886963|PMID:24951259|PMID:24954719|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25148578|PMID:25182519|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25326635|PMID:25374739|PMID:25452441|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25749350|PMID:25862857|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26182300|PMID:26206375|PMID:26207792|PMID:26220245|PMID:26250988|PMID:26270727 8708960 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27121310|PMID:27142713|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27224988|PMID:27365426|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27528516|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27720647|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27994516|PMID:28007021|PMID:28008555|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28423360|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29360550|PMID:29371908|PMID:29445900|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29758562|PMID:29778231|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29961768|PMID:30067863|PMID:30093976|PMID:30181556|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30425284|PMID:30426508|PMID:30447919|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30579816|PMID:30613976|PMID:30639167|PMID:30651582|PMID:30666157|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30836094|PMID:30851086|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31350202|PMID:31360874|PMID:31382929|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31589614|PMID:31611883|PMID:31638252|PMID:31666926|PMID:31719806|PMID:31741144|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32068069|PMID:32091409|PMID:32113160|PMID:32125938|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32371905|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32748564|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32866190|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33050356|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33168809|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33330270|PMID:33359728|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471191|PMID:33471991|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33875564|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34009545|PMID:34107524 8708960 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:34117267|PMID:34130653|PMID:34199532|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34445196|PMID:34573280|PMID:34646395|PMID:34680878|PMID:34755017|PMID:34761457|PMID:34994613|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35085662|PMID:35098669|PMID:35171259|PMID:35245693|PMID:35257272|PMID:35264596|PMID:35273153|PMID:35312250|PMID:35365198|PMID:35451682|PMID:35495172|PMID:35534218|PMID:35666082|PMID:35708139|PMID:35716007|PMID:35717579|PMID:35763645|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36674612|PMID:36704080|PMID:36898365|PMID:36988593|PMID:37088804|PMID:37436117|PMID:38017116|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:34117267|PMID:34130653|PMID:34199532|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34445196|PMID:34570441|PMID:34573280|PMID:34646395|PMID:34680878|PMID:34755017|PMID:34761457|PMID:34994613|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35085662|PMID:35098669|PMID:35171259|PMID:35245693|PMID:35257272|PMID:35264596|PMID:35273153|PMID:35312250|PMID:35365198|PMID:35451682|PMID:35495172|PMID:35534218|PMID:35666082|PMID:35708139|PMID:35716007|PMID:35717579|PMID:35763645|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36674612|PMID:36704080|PMID:36898365|PMID:36988593|PMID:37088804|PMID:37436117|PMID:38017116|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:34117267|PMID:34130653|PMID:34199532|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34445196|PMID:34570441|PMID:34573280|PMID:34646395|PMID:34680878|PMID:34755017|PMID:34761457|PMID:34994613|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35085662|PMID:35098669|PMID:35171259|PMID:35245693|PMID:35257272|PMID:35264596|PMID:35273153|PMID:35312250|PMID:35365198|PMID:35451682|PMID:35495172|PMID:35534218|PMID:35666082|PMID:35708139|PMID:35716007|PMID:35717579|PMID:35763645|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36674612|PMID:36704080|PMID:36898365|PMID:36988593|PMID:37088804|PMID:37091313|PMID:37436117|PMID:38017116|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:34117267|PMID:34130653|PMID:34199532|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34445196|PMID:34570441|PMID:34573280|PMID:34646395|PMID:34680878|PMID:34755017|PMID:34761457|PMID:34994613|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35085662|PMID:35098669|PMID:35171259|PMID:35245693|PMID:35257272|PMID:35264596|PMID:35273153|PMID:35312250|PMID:35365198|PMID:35451682|PMID:35495172|PMID:35534218|PMID:35666082|PMID:35708139|PMID:35716007|PMID:35717579|PMID:35763645|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36674612|PMID:36704080|PMID:36898365|PMID:36988593|PMID:37088804|PMID:37091313|PMID:37262986|PMID:37436117|PMID:38017116|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:26270727|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27121310|PMID:27142713|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27224988|PMID:27365426|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27528516|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27720647|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27994516|PMID:28007021|PMID:28008555|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28423360|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29360550|PMID:29371908|PMID:29445900|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29758562|PMID:29778231|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29961768|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30181556|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30425284|PMID:30426508|PMID:30447919|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30579816|PMID:30613976|PMID:30639167|PMID:30651582|PMID:30666157|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30836094|PMID:30851086|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31350202|PMID:31360874|PMID:31382929|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31589614|PMID:31611883|PMID:31638252|PMID:31666926|PMID:31719806|PMID:31741144|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32068069|PMID:32091409|PMID:32113160|PMID:32125938|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32371905|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32748564|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32866190|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33050356|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33168809|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33330270|PMID:33359728|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471191|PMID:33471991|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33875564|PMID:33919281 8708960 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:33939675|PMID:33980423|PMID:34009545|PMID:34107524|PMID:34117267|PMID:34130653|PMID:34199532|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34445196|PMID:34570441|PMID:34573280|PMID:34646395|PMID:34680878|PMID:34755017|PMID:34761457|PMID:34994613|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35085662|PMID:35098669|PMID:35171259|PMID:35245693|PMID:35257272|PMID:35264596|PMID:35273153|PMID:35312250|PMID:35365198|PMID:35451682|PMID:35467778|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35666082|PMID:35708139|PMID:35716007|PMID:35717579|PMID:35763645|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36674612|PMID:36704080|PMID:36898365|PMID:36988593|PMID:37088804|PMID:37091313|PMID:37097610|PMID:37262986|PMID:37436117|PMID:37529773|PMID:38017116|PMID:38028594|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:14562025|PMID:14586414|PMID:14628072|PMID:14643952|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15174027|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19018867|PMID:19081671|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19650357|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20308662|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21910157|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23726790|PMID:23774824|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24549055|PMID:24556621|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24886963|PMID:24951259|PMID:24954719|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25148578|PMID:25182519|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25326635|PMID:25374739|PMID:25452441|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25749350|PMID:25862857|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26182300|PMID:26206375|PMID:26207792|PMID:26220245|PMID:26247737|PMID:26250988 8708960 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:26270727|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27121310|PMID:27142713|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27224988|PMID:27365426|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27528516|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27720647|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27994516|PMID:28007021|PMID:28008555|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28423360|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29360550|PMID:29371908|PMID:29445900|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29758562|PMID:29778231|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29961768|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30181556|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30425284|PMID:30426508|PMID:30447919|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30579816|PMID:30613976|PMID:30639167|PMID:30651582|PMID:30666157|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30836094|PMID:30851086|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31350202|PMID:31360874|PMID:31382929|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31589614|PMID:31611883|PMID:31638252|PMID:31666926|PMID:31719806|PMID:31741144|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31874108|PMID:31882575|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32068069|PMID:32091409|PMID:32113160|PMID:32125938|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32371905|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32748564|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32866190|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33050356|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33168809|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33330270|PMID:33359728|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471191|PMID:33471991|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33875564 8708960 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:33919281|PMID:33939675|PMID:33980423|PMID:34009545|PMID:34107524|PMID:34117267|PMID:34130653|PMID:34199532|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34445196|PMID:34570441|PMID:34573280|PMID:34646395|PMID:34680878|PMID:34755017|PMID:34761457|PMID:34994613|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35085662|PMID:35098669|PMID:35146455|PMID:35171259|PMID:35245693|PMID:35257272|PMID:35264596|PMID:35273153|PMID:35312250|PMID:35365198|PMID:35451682|PMID:35467778|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35666082|PMID:35708139|PMID:35716007|PMID:35717579|PMID:35763645|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36674612|PMID:36704080|PMID:36898365|PMID:36988593|PMID:37088804|PMID:37091313|PMID:37097610|PMID:37262986|PMID:37436117|PMID:37529773|PMID:38017116|PMID:38028594|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:14562025|PMID:14586414|PMID:14628072|PMID:14643952|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15174027|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19018867|PMID:19081671|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19650357|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20308662|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21910157|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23726790|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24549055|PMID:24556621|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24853695|PMID:24886963|PMID:24951259|PMID:24954719|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25148578|PMID:25182519|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25326635|PMID:25326637|PMID:25374739|PMID:25452441|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25749350|PMID:25862857|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26182300|PMID:26206375|PMID:26207792 8708960 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:26220245|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27121310|PMID:27142713|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27224988|PMID:27365426|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27528516|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27720647|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27994516|PMID:28007021|PMID:28008555|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28423360|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28888541|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29360550|PMID:29371908|PMID:29445900|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29758562|PMID:29778231|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29961768|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30181556|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30413523|PMID:30425284|PMID:30426508|PMID:30447919|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30579816|PMID:30613976|PMID:30639167|PMID:30651582|PMID:30666157|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30836094|PMID:30851086|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31125277|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31350202|PMID:31360874|PMID:31382929|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31589614|PMID:31611883|PMID:31638252|PMID:31666926|PMID:31719806|PMID:31741144|PMID:31742824|PMID:31776720|PMID:31780696|PMID:31784482|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31874108|PMID:31882575|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32068069|PMID:32091409|PMID:32113160|PMID:32125938|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32371905|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32748564|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33050356|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33168809|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33330270|PMID:33359728|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33439686 8708960 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:33471191|PMID:33471991|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33875564|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34009545|PMID:34107524|PMID:34117267|PMID:34130653|PMID:34199532|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34426522|PMID:34445196|PMID:34570441|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34680878|PMID:34755017|PMID:34761457|PMID:34994613|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35085662|PMID:35098669|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35245693|PMID:35257272|PMID:35264596|PMID:35273153|PMID:35312250|PMID:35365198|PMID:35451682|PMID:35467778|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35666082|PMID:35708139|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36674612|PMID:36685941|PMID:36704080|PMID:36898365|PMID:36988593|PMID:37088804|PMID:37091313|PMID:37097610|PMID:37262986|PMID:37306523|PMID:37436117|PMID:37529773|PMID:37762649|PMID:38017116|PMID:38028594|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:26247737|PMID:26250988|PMID:26270727|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27121310|PMID:27142713|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27224988|PMID:27365426|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27528516|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27720647|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27994516|PMID:28007021|PMID:28008555|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28423360|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28888541|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29360550|PMID:29371908|PMID:29445900|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29758562|PMID:29778231|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29961768|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30181556|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30413523|PMID:30425284|PMID:30426508|PMID:30447919|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30579816|PMID:30613976|PMID:30639167|PMID:30651582|PMID:30666157|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30836094|PMID:30851086|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31125277|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31350202|PMID:31360874|PMID:31382929|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31589614|PMID:31611883|PMID:31638252|PMID:31666926|PMID:31719806|PMID:31741144|PMID:31742824|PMID:31776720|PMID:31780696|PMID:31784482|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31874108|PMID:31882575|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32068069|PMID:32091409|PMID:32113160|PMID:32125938|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32371905|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32748564|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33050356|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33168809|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33330270|PMID:33359728|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471191 8708960 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:33471991|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33875564|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34009545|PMID:34107524|PMID:34117267|PMID:34130653|PMID:34199532|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34426522|PMID:34445196|PMID:34489640|PMID:34570441|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34680878|PMID:34755017|PMID:34761457|PMID:34994613|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35085662|PMID:35098669|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35245693|PMID:35257272|PMID:35264596|PMID:35273153|PMID:35312250|PMID:35354106|PMID:35365198|PMID:35451682|PMID:35467778|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35666082|PMID:35708139|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36674612|PMID:36685941|PMID:36704080|PMID:36898365|PMID:36988593|PMID:37088804|PMID:37091313|PMID:37097610|PMID:37262986|PMID:37306523|PMID:37436117|PMID:37529773|PMID:37762649|PMID:38017116|PMID:38028594|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:14562025|PMID:14586414|PMID:14628072|PMID:14643952|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15174027|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19018867|PMID:19081671|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19650357|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20308662|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21910157|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23726790|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24549055|PMID:24556621|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24853695|PMID:24886963|PMID:24951259|PMID:24954719|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25148578|PMID:25182519|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25326635|PMID:25374739|PMID:25452441|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25749350|PMID:25862857|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26182300|PMID:26206375|PMID:26207792|PMID:26220245 8708960 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:26247737|PMID:26250988|PMID:26270727|PMID:26380989|PMID:26416026|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27121310|PMID:27142713|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27224988|PMID:27365426|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27528516|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27720647|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27994516|PMID:28007021|PMID:28008555|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28423360|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28617965|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28888541|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29360550|PMID:29371908|PMID:29445900|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29597095|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29758562|PMID:29778231|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29961768|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30181556|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30413523|PMID:30425284|PMID:30426508|PMID:30447919|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30579816|PMID:30613976|PMID:30639167|PMID:30651582|PMID:30666157|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30836094|PMID:30851086|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31125277|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31350202|PMID:31360874|PMID:31382929|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31589614|PMID:31611883|PMID:31638252|PMID:31666926|PMID:31719806|PMID:31741144|PMID:31742824|PMID:31776720|PMID:31780696|PMID:31784482|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31874108|PMID:31882575|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32068069|PMID:32091409|PMID:32113160|PMID:32125938|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32371905|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32748564|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33050356|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33168809|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33330270|PMID:33359728|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217 8708960 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:33436325|PMID:33439686|PMID:33471191|PMID:33471991|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33875564|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34009545|PMID:34107524|PMID:34117267|PMID:34130653|PMID:34199532|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34426522|PMID:34445196|PMID:34489640|PMID:34570441|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34680878|PMID:34755017|PMID:34761457|PMID:34994613|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35085662|PMID:35098669|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35245693|PMID:35257272|PMID:35264596|PMID:35273153|PMID:35312250|PMID:35354106|PMID:35365198|PMID:35451682|PMID:35467778|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35666082|PMID:35708139|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36099812|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36674612|PMID:36685941|PMID:36704080|PMID:36898365|PMID:36988593|PMID:37088804|PMID:37091313|PMID:37097610|PMID:37262986|PMID:37306523|PMID:37436117|PMID:37529773|PMID:37762649|PMID:38017116|PMID:38028594|PMID:39085400|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:33330270|PMID:33359728|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471191|PMID:33471991|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33624863|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33875564|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34009545|PMID:34107524|PMID:34117267|PMID:34130653|PMID:34199532|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34426522|PMID:34445196|PMID:34489640|PMID:34570441|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34680878|PMID:34755017|PMID:34761457|PMID:34994613|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35078817|PMID:35085662|PMID:35098669|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35218119|PMID:35245693|PMID:35257272|PMID:35264596|PMID:35273153|PMID:35312250|PMID:35354106|PMID:35365198|PMID:35451682|PMID:35467778|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35666082|PMID:35708139|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35884425|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36094610|PMID:36099812|PMID:36135357|PMID:36155879|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36674612|PMID:36685941|PMID:36703223|PMID:36704080|PMID:36898365|PMID:36988593|PMID:37013556|PMID:37088804|PMID:37091313|PMID:37097610|PMID:37262986|PMID:37306523|PMID:37349538|PMID:37436117|PMID:37529773|PMID:37762649|PMID:38017116|PMID:38028594|PMID:38153744|PMID:38156855|PMID:38489015|PMID:38854973|PMID:39077936|PMID:39085400|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:14562025|PMID:14586414|PMID:14628072|PMID:14643952|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15174027|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19018867|PMID:19081671|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19650357|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20308662|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21910157|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23726790|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24549055|PMID:24556621|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24853695|PMID:24886963|PMID:24951259|PMID:24954719|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25148578|PMID:25182519|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25326635|PMID:25374739|PMID:25452441|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25749350|PMID:25862857|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26182300|PMID:26206375|PMID:26207792 8708960 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:26220245|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27121310|PMID:27142713|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27224988|PMID:27365426|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27528516|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27720647|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27994516|PMID:28007021|PMID:28008555|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28423360|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28888541|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29360550|PMID:29371908|PMID:29445900|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29758562|PMID:29778231|PMID:29785153|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30181556|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30413523|PMID:30425284|PMID:30426508|PMID:30447919|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30579816|PMID:30613976|PMID:30620386|PMID:30639167|PMID:30651582|PMID:30666157|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30836094|PMID:30851086|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31125277|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31350202|PMID:31360874|PMID:31382929|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31589614|PMID:31611883|PMID:31638252|PMID:31666926|PMID:31719806|PMID:31741144|PMID:31742824|PMID:31776720|PMID:31780696|PMID:31784482|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31874108|PMID:31882575|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32068069|PMID:32091409|PMID:32113160|PMID:32125938|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32300177|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32371905|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32720237|PMID:32748564|PMID:32756499|PMID:32782288|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33003326|PMID:33050356|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33168809|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985 8708960 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:33330270|PMID:33359728|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471191|PMID:33471991|PMID:33509806|PMID:33525650|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33624863|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33875564|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34009545|PMID:34107524|PMID:34117267|PMID:34130653|PMID:34199532|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34426522|PMID:34445196|PMID:34489640|PMID:34570441|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34680878|PMID:34755017|PMID:34761457|PMID:34994613|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35078817|PMID:35085662|PMID:35098669|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35218119|PMID:35245693|PMID:35257272|PMID:35264596|PMID:35273153|PMID:35312250|PMID:35354106|PMID:35365198|PMID:35451682|PMID:35467778|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35666082|PMID:35708139|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35884425|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36094610|PMID:36099812|PMID:36135357|PMID:36155879|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36674612|PMID:36685941|PMID:36703223|PMID:36704080|PMID:36744932|PMID:36896836|PMID:36898365|PMID:36983044|PMID:36988593|PMID:37013556|PMID:37088804|PMID:37091313|PMID:37097610|PMID:37262986|PMID:37306523|PMID:37349538|PMID:37436117|PMID:37529773|PMID:37762649|PMID:38017116|PMID:38028594|PMID:38153744|PMID:38156855|PMID:38489015|PMID:38854973|PMID:39077936|PMID:39085400|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:5750 endometrial serous adenocarcinoma ISO RGD:1606040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Uterine corpus serous adenocarcinoma 8708960 Atm ATM serine/threonine kinase gene DOID:5844 myocardial infarction ISO RGD:10199 D RGD:9068941 20200609 RGD PMID:24358288|REF_RGD_ID:10053570 8708960 Atm ATM serine/threonine kinase gene DOID:5844 myocardial infarction ISO RGD:1606040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24358288 8708960 Atm ATM serine/threonine kinase gene DOID:6741 bilateral breast cancer ISO RGD:1606040 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Bilateral breast carcinoma PMID:19781682|PMID:25085752|PMID:25741868|PMID:26467025|PMID:26689913|PMID:26787654|PMID:28492532|PMID:28779002|PMID:28873162|PMID:29641532|PMID:31159747|PMID:31206626|PMID:32283892|PMID:32885271|PMID:33471991|PMID:35264596|PMID:36200007 8708960 Atm ATM serine/threonine kinase gene DOID:684 hepatocellular carcinoma ISO RGD:1606040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19919837 8708960 Atm ATM serine/threonine kinase gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1606040 D RGD:9068941 20210423 RGD protein:increased expression:liver (human) PMID:12866955|REF_RGD_ID:126781750 8708960 Atm ATM serine/threonine kinase gene DOID:687 hepatoblastoma ISO RGD:1606040 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:11756177|PMID:16832357|PMID:17333338|PMID:19781682|PMID:20305132|PMID:21665257|PMID:24728327|PMID:25085752|PMID:25186627|PMID:25741868|PMID:26467025|PMID:26689913|PMID:26787654|PMID:26837699|PMID:27913932|PMID:28492532|PMID:28779002|PMID:29522266|PMID:29659569|PMID:30256826|PMID:30303537|PMID:30995915|PMID:31780696|PMID:32325837|PMID:33128190|PMID:33359728|PMID:33436325|PMID:33471991|PMID:34262154|PMID:34646395|PMID:35264596|PMID:35495172|PMID:35980532|PMID:36099812|PMID:37436117|PMID:39085400 8708960 Atm ATM serine/threonine kinase gene DOID:83 cataract ISO RGD:1606040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16799786 8708960 Atm ATM serine/threonine kinase gene DOID:8634 prostate carcinoma in situ ISO RGD:1606040 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:prostate gland PMID:16997395|REF_RGD_ID:2293869 8708960 Atm ATM serine/threonine kinase gene DOID:8997 polycythemia vera ISO RGD:1606040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polycythemia rubra vera 8708960 Atm ATM serine/threonine kinase gene DOID:9000039 Spinal Cord Injuries ISO RGD:1593265 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:21748659|REF_RGD_ID:10053608 8708960 Atm ATM serine/threonine kinase gene DOID:9000099 Experimental Colitis exacerbates ISO RGD:10199 D RGD:9068941 20210423 RGD PMID:20179206|REF_RGD_ID:126781749 8708960 Atm ATM serine/threonine kinase gene DOID:9000113 Pneumococcal Meningitis ameliorates ISO RGD:10199 D RGD:9068941 20210423 RGD PMID:15529270|REF_RGD_ID:126781748 8708960 Atm ATM serine/threonine kinase gene DOID:9000217 Stomach Neoplasms ISO RGD:1606040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26098866 8708960 Atm ATM serine/threonine kinase gene DOID:9000371 influenza A exacerbates ISO RGD:10199 D RGD:9068941 20210409 RGD PMID:31509427|REF_RGD_ID:126779564 8708960 Atm ATM serine/threonine kinase gene DOID:9000784 Fibrosis ISO RGD:1606040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24358288 8708960 Atm ATM serine/threonine kinase gene DOID:9000808 Hypercholesterolemia susceptibility ISO RGD:10199 D RGD:9068941 20200609 RGD PMID:15863839|REF_RGD_ID:1601249 8708960 Atm ATM serine/threonine kinase gene DOID:9001234 Prenatal Exposure Delayed Effects ISO RGD:1606040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21177254 8708960 Atm ATM serine/threonine kinase gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:1606040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24358288 8708960 Atm ATM serine/threonine kinase gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1606040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17968022 8708960 Atm ATM serine/threonine kinase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1606040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17502119|PMID:25415046|PMID:26098866|PMID:29610475 8708960 Atm ATM serine/threonine kinase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1606040 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:14983937|REF_RGD_ID:2293870 8708960 Atm ATM serine/threonine kinase gene DOID:9002762 Ovarian Neoplasms ISO RGD:1606040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian neoplasm 8708960 Atm ATM serine/threonine kinase gene DOID:9002834 Herpesviridae Infections ameliorates ISO RGD:10199 D RGD:9068941 20210416 RGD PMID:22993144|PMID:28701397|REF_RGD_ID:126781689|REF_RGD_ID:126781691 8708960 Atm ATM serine/threonine kinase gene DOID:9002928 Colonic Neoplasms ISO RGD:1606040 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Colonic neoplasm PMID:23807571|PMID:25614872|PMID:25741868|PMID:28492532|PMID:30482293|PMID:32658311 8708960 Atm ATM serine/threonine kinase gene DOID:9004083 Familial Pancreatic Carcinoma ISO RGD:1606040 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Familial pancreatic carcinoma PMID:10330348|PMID:10864201|PMID:11606401|PMID:12362033|PMID:12552559|PMID:12815592|PMID:15039971|PMID:15843990|PMID:16832357|PMID:17124347|PMID:18384426|PMID:19691550|PMID:19781682|PMID:20301790|PMID:21445571|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21965147|PMID:22146522|PMID:22585167|PMID:22649200|PMID:23585524|PMID:23807571|PMID:24416720|PMID:25077176|PMID:25085752|PMID:25614872|PMID:25741868|PMID:25980754|PMID:26023681|PMID:26182300|PMID:26467025|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26896183|PMID:26976419|PMID:27034805|PMID:27433846|PMID:27484032|PMID:27664052|PMID:27884168|PMID:27978560|PMID:28135145|PMID:28492532|PMID:28652578|PMID:28779002|PMID:29478780|PMID:29625052|PMID:29641532|PMID:29915322|PMID:29922827|PMID:29961768|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30549301|PMID:30772474|PMID:31589614|PMID:31882575|PMID:32338768|PMID:32566746|PMID:32853339|PMID:32885271|PMID:33280026|PMID:33436325|PMID:33471991|PMID:34326862|PMID:34337741|PMID:35078243|PMID:35218119|PMID:36243179|PMID:8755918|PMID:9443866|PMID:9463314|PMID:9887333 8708960 Atm ATM serine/threonine kinase gene DOID:9004484 Sepsis treatment ISO RGD:10199 D RGD:9068941 20210423 RGD PMID:24184056|REF_RGD_ID:126781746 8708960 Atm ATM serine/threonine kinase gene DOID:9004590 Acute Liver Failure treatment ISO RGD:10199 D RGD:9068941 20200609 RGD PMID:21224054|REF_RGD_ID:10053606 8708960 Atm ATM serine/threonine kinase gene DOID:9004590 Acute Liver Failure treatment ISO RGD:1593265 D RGD:9068941 20200609 RGD PMID:24565947|REF_RGD_ID:10053604 8708960 Atm ATM serine/threonine kinase gene DOID:9005539 Familial Prostate Cancer ISO RGD:1606040 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Familial prostate cancer PMID:15928302|PMID:16941484|PMID:17124347|PMID:17910737|PMID:19431188|PMID:21665257|PMID:21792198|PMID:22071889|PMID:23454770|PMID:23632773|PMID:23807571|PMID:25122203|PMID:25614872|PMID:25741868|PMID:27913932|PMID:28492532|PMID:28779002|PMID:29600275|PMID:29909963|PMID:30322717|PMID:30338439|PMID:31214711|PMID:32866655|PMID:33280026|PMID:33436325|PMID:33471991|PMID:34654685|PMID:34755017|PMID:36988593 8708960 Atm ATM serine/threonine kinase gene DOID:9005628 Ataxia-Telangiectasia Variant ISO RGD:1606040 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Ataxia - telangiectasia variant | ClinVar Annotator: match by term: Ataxia-telangiectasia variant PMID:10234507|PMID:10330348|PMID:11382771|PMID:11805335|PMID:11826028|PMID:11830610|PMID:12072552|PMID:12969974|PMID:14562025|PMID:14654357|PMID:15054841|PMID:15174027|PMID:15928302|PMID:16832357|PMID:16958054|PMID:17001622|PMID:17576681|PMID:18575927|PMID:18634022|PMID:19431188|PMID:19535770|PMID:19650357|PMID:19781682|PMID:19823873|PMID:20301790|PMID:20305132|PMID:21778326|PMID:21787400|PMID:21792198|PMID:22345219|PMID:22529920|PMID:22585167|PMID:23143971|PMID:24088041|PMID:24733792|PMID:25037873|PMID:25040471|PMID:25077176|PMID:25186627|PMID:25741868|PMID:25914063|PMID:25980754|PMID:26467025|PMID:26506520|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26896183|PMID:26898890|PMID:27528516|PMID:27595995|PMID:27798748|PMID:27884168|PMID:27978560|PMID:27988859|PMID:28008555|PMID:28126470|PMID:28492532|PMID:28779002|PMID:29719442|PMID:29915382|PMID:30504431|PMID:30549301|PMID:31447099|PMID:32255556|PMID:32338768|PMID:32427313|PMID:32748564|PMID:32754152|PMID:32853339|PMID:33436325|PMID:33471991|PMID:33509806|PMID:34117267|PMID:35534218|PMID:35710434|PMID:35716007|PMID:36744932|PMID:581456|PMID:8755819|PMID:8755918|PMID:8808599|PMID:9000145|PMID:9288106|PMID:9463314|PMID:9536098|PMID:9792410|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:9005936 Gastro-Enteropancreatic Neuroendocrine Tumor disease_progression ISO RGD:1606040 D RGD:9068941 20210903 RGD associated with Neoplasm Metastasis;mRNA, protein: decreased expression:gastrointestinal system, multiple (human) PMID:22485171|REF_RGD_ID:150340716 8708960 Atm ATM serine/threonine kinase gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1593265 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:22768306|REF_RGD_ID:10053607 8708960 Atm ATM serine/threonine kinase gene DOID:9006644 Retroviridae Infections ameliorates ISO RGD:10199 D RGD:9068941 20210423 RGD PMID:15661267|REF_RGD_ID:126781747 8708960 Atm ATM serine/threonine kinase gene DOID:9006646 Metabolic Syndrome ISO RGD:10199 D RGD:9068941 20200609 RGD PMID:17084711|REF_RGD_ID:1601248 8708960 Atm ATM serine/threonine kinase gene DOID:9006815 Otorhinolaryngologic Neoplasms severity ISO RGD:1606040 D RGD:9068941 20210903 RGD mRNA:decreased expression:pharynx,larynx (human) PMID:21127011|REF_RGD_ID:150340703 8708960 Atm ATM serine/threonine kinase gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:1606040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:10571946 8708960 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24201163|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24451234|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25231023|PMID:25232094|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27959900|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28188106|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191 8708960 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28956312|PMID:28975018|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29778231|PMID:29785153|PMID:29866652|PMID:29888287|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30363071|PMID:30374176|PMID:30389154|PMID:30402232|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30713859|PMID:30713931|PMID:30723761|PMID:30730459|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30938815|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173964|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31360874|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31617914|PMID:31658756|PMID:31666926|PMID:31691010|PMID:31719806|PMID:31731261|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31784493|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31970404|PMID:32002120|PMID:32039725|PMID:32068069|PMID:32107087|PMID:32125938|PMID:32172615|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32810930|PMID:32832836|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32906206|PMID:32918381|PMID:32958592|PMID:32986223|PMID:33011440|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33547824|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33747920|PMID:33850299|PMID:34204722|PMID:34262154|PMID:34299313|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24201163|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25231023|PMID:25232094|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26380989|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27959900|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266 8708960 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17540590|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19224889|PMID:19228710|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:1953577|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:197781682|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21520333|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22520355|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308 8708960 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24201163|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27595995|PMID:27596957|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27879207|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145 8708960 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28898322|PMID:28956312|PMID:28975465|PMID:29025590|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29700634|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556 8708960 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32368696|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32775531|PMID:32782288|PMID:3280694|PMID:32810930|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32885271|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33011440|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:33442023|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33785725|PMID:33850299|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34250389|PMID:34262154|PMID:34283047|PMID:34284872|PMID:34299313|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34663476|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34873480|PMID:34884835|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35095854|PMID:35186721|PMID:35201558|PMID:35260754|PMID:35264596|PMID:35284771|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35483985|PMID:35534218|PMID:35666082|PMID:35716007|PMID:35806449|PMID:35980532|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19224889|PMID:19228710|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:1953577|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:197781682|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21520333|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22520355|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193|PMID:22927201 8708960 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24201163|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27595995|PMID:27596957|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27879207|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28125075 8708960 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28898322|PMID:28956312|PMID:28975465|PMID:29025590|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29700634|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615 8708960 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32368696|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32775531|PMID:32782288|PMID:3280694|PMID:32810930|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32885271|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33011440|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:33442023|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34283047|PMID:34284872|PMID:34299313|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34663476|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34873480|PMID:34884835|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35095854|PMID:35186721|PMID:35201558|PMID:35260754|PMID:35264596|PMID:35284771|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35483985|PMID:35534218|PMID:35666082|PMID:35716007|PMID:35806449|PMID:35980532|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19224889|PMID:19228710|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:1953577|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:197781682|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21270786|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21520333|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22520355|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595 8708960 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24201163|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25974703|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27595995|PMID:27596957|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27879207|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368 8708960 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28590052|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28898322|PMID:28956312|PMID:28975465|PMID:29025590|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29700634|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087 8708960 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19224889|PMID:19228710|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:1953577|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:197781682|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21520333|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22520355|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193 8708960 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32368696|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32775531|PMID:32782288|PMID:3280694|PMID:32810930|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32885271|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32999401|PMID:33011440|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:33442023|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34283047|PMID:34284872|PMID:34299313|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34663476|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34873480|PMID:34884835|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35095854|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35284771|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35483985|PMID:35534218|PMID:35666082|PMID:35716007|PMID:35806449|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36200007|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27595995|PMID:27596957|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27879207|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174 8708960 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28898322|PMID:28956312|PMID:28975465|PMID:29025590|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29700634|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31472684|PMID:31497750|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419 8708960 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32368696|PMID:32383162|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32775531|PMID:32782288|PMID:3280694|PMID:32810930|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32885271|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32999401|PMID:33011440|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:33442023|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33750258|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34283047|PMID:34284872|PMID:34299313|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34663476|PMID:34755017|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34873480|PMID:34884835|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35095854|PMID:35127508|PMID:35171259|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35284771|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35483985|PMID:35534218|PMID:35666082|PMID:35710434|PMID:35716007|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36167400|PMID:36200007|PMID:36551643|PMID:36568162|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27595995|PMID:27596957|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27879207|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234 8708960 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28898322|PMID:28956312|PMID:28975465|PMID:29025590|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29489040|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29700634|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29758562|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30062048|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30159786|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30279689|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31300551|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31472684|PMID:31497750|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151 8708960 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32012241|PMID:32019284|PMID:32039725|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32368696|PMID:32383162|PMID:32427313|PMID:32461654|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32775531|PMID:32782288|PMID:3280694|PMID:32810930|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33239428|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:33442023|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33750258|PMID:33779842|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34067464|PMID:34130653|PMID:34196900|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34283047|PMID:34284872|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34477817|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34663476|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34873480|PMID:34884835|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35095854|PMID:35127508|PMID:35154108|PMID:35171259|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35284771|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35483985|PMID:35534218|PMID:35534704|PMID:35666082|PMID:35710434|PMID:35716007|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36099812|PMID:36117189|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36551643|PMID:36568162|PMID:36672847|PMID:36674612|PMID:36704080|PMID:36898365|PMID:36988593|PMID:37438524|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27595995|PMID:27596957|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27879207|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174 8708960 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28898322|PMID:28956312|PMID:28975465|PMID:29025590|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29489040|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29700634|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29758562|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30062048|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30159786|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30279689|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31300551|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31472684|PMID:31497750|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32012241 8708960 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32019284|PMID:32039725|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32368696|PMID:32383162|PMID:32427313|PMID:32461654|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32775531|PMID:32782288|PMID:3280694|PMID:32810930|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33239428|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:33442023|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33750258|PMID:33779842|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34067464|PMID:34130653|PMID:34196900|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34283047|PMID:34284872|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34477817|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34663476|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34873480|PMID:34884835|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35095854|PMID:35127508|PMID:35154108|PMID:35171259|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35284771|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35483985|PMID:35534218|PMID:35534704|PMID:35666082|PMID:35710434|PMID:35716007|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36099812|PMID:36117189|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36551643|PMID:36568162|PMID:36672847|PMID:36674612|PMID:36704080|PMID:36898365|PMID:36988593|PMID:37149759|PMID:37438524|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14628072|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19224889|PMID:19228710|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:1953577|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:197781682|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21520333|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22520355|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152 8708960 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27595995|PMID:27596957|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27692705|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27854218|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27879207|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27994516|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583 8708960 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28888541|PMID:28894253|PMID:28898322|PMID:28956312|PMID:28975465|PMID:29025590|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29445900|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29489040|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29700634|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29758562|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30062048|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30159786|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30279689|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30425284|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31300551|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31472684|PMID:31497750|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31871297 8708960 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:31874108|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32012241|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32368696|PMID:32371905|PMID:32383162|PMID:32427313|PMID:32461654|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32775531|PMID:32782288|PMID:3280694|PMID:32810930|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33168809|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33203166|PMID:33206719|PMID:33239428|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33332384|PMID:33359728|PMID:33365035|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33442023|PMID:33462019|PMID:33471191|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33750258|PMID:33779842|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34009545|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34283047|PMID:34284872|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34477817|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34663476|PMID:34680501|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34873480|PMID:34884835|PMID:34949663|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35085662|PMID:35095854|PMID:35098669|PMID:35127508|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35284771|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35483985|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36099812|PMID:36117189|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36446039|PMID:36551643|PMID:36555667|PMID:36568162|PMID:36672847|PMID:36674612|PMID:36704080|PMID:36717774|PMID:36898365|PMID:36988593|PMID:37088804|PMID:37149759|PMID:37239058|PMID:37262986|PMID:37438524|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216 8708960 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:1065243|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14628072|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16158199|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:1739584|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19224889|PMID:19228710|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:1953577|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:197781682|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21520333|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22109722|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22520355|PMID:22527104|PMID:22529920 8708960 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25586381|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26619011|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:2675381|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27595995|PMID:27596957|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27692705|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27854218|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27879207|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560 8708960 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:27980538|PMID:27988859|PMID:27989354|PMID:27994516|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28495237|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28888541|PMID:28894253|PMID:28898322|PMID:28956312|PMID:28975465|PMID:29025590|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29308099|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29445900|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29489040|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29700634|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29758562|PMID:29769598|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30062048|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30159786|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30279689|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30425284|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30836094|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31300551|PMID:31317629|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31472684|PMID:31497750|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31691010|PMID:31704732|PMID:31719806 8708960 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:31721094|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31788995|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32005694|PMID:32008151|PMID:32012241|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32368696|PMID:32371905|PMID:32383162|PMID:32427313|PMID:32461654|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32581083|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32761968|PMID:32772458|PMID:32775531|PMID:32782288|PMID:32792570|PMID:3280694|PMID:32810930|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32962506|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33168809|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33203166|PMID:33206719|PMID:33239428|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33359728|PMID:33365035|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33462019|PMID:33471191|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33750258|PMID:33779842|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34009545|PMID:34067464|PMID:34107524|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34283047|PMID:34284872|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34337741|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34477817|PMID:34539671|PMID:34570441|PMID:34573280|PMID:34582042|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34659905|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34824606|PMID:34873480|PMID:34884835|PMID:34949663|PMID:34954471|PMID:34994613|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35085662|PMID:35095854|PMID:35098669|PMID:35127508|PMID:35145552|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35220195|PMID:35245693|PMID:35257272|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35284771|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35365198|PMID:35402282|PMID:35441217|PMID:35451682|PMID:35467778|PMID:35483985|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36000185|PMID:36029002|PMID:36035419|PMID:36091166 8708960 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:36099812|PMID:36117189|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36329109|PMID:3638722|PMID:36446039|PMID:36521553|PMID:36531003|PMID:36551643|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36672847|PMID:36674612|PMID:36704080|PMID:36717774|PMID:36898365|PMID:36979741|PMID:36988593|PMID:37009283|PMID:37088804|PMID:37149759|PMID:37239058|PMID:37262986|PMID:37438524|PMID:37445923|PMID:37453313|PMID:4012663|PMID:581456|PMID:622825|PMID:623656|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:1065243|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12958068|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14628072|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16158199|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:1739584|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19224889|PMID:19228710|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:1953577|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22109722|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22520355|PMID:22527104|PMID:22529920|PMID:22585167 8708960 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25586381|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25741916|PMID:25742471|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26619011|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:2675381|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27595995|PMID:27596957|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27692705|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27879207|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859 8708960 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:27989354|PMID:27994516|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28495237|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28888541|PMID:28894253|PMID:28898322|PMID:28956312|PMID:28975465|PMID:29025590|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29081736|PMID:29101607|PMID:29127364|PMID:29141312|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29308099|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29445900|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29485843|PMID:29486991|PMID:29487225|PMID:29489040|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29615459|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29700634|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29758562|PMID:29769598|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30062048|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30159786|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30279689|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30425284|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30836094|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31300551|PMID:31317629|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31472684|PMID:31497750|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31691010 8708960 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:31704732|PMID:31719806|PMID:31721094|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31788995|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32005694|PMID:32008151|PMID:32012241|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32315455|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32368696|PMID:32371905|PMID:32383162|PMID:32427313|PMID:32461654|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32581083|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32710489|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32761968|PMID:32772458|PMID:32775531|PMID:32782288|PMID:32792570|PMID:3280694|PMID:32810930|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32962506|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33168809|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33203166|PMID:33206719|PMID:33239428|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33359728|PMID:33365035|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33462019|PMID:33471191|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33750258|PMID:33779842|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34009545|PMID:34067464|PMID:34107524|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34283047|PMID:34284872|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34337741|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34477817|PMID:34539671|PMID:34570441|PMID:34573280|PMID:34582042|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34659905|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34824606|PMID:34873480|PMID:34884835|PMID:34917121|PMID:34949663|PMID:34954471|PMID:34994613|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35085662|PMID:35095854|PMID:35098669|PMID:35127508|PMID:35145552|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35220195|PMID:35245693|PMID:35257272|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35284771|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35365198|PMID:35402282|PMID:35406420|PMID:35441217|PMID:35451682|PMID:35467778|PMID:35483985|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35652560|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882 8708960 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:35893033|PMID:35957908|PMID:35980532|PMID:36000185|PMID:36008414|PMID:36029002|PMID:36035419|PMID:36091166|PMID:36099812|PMID:36117189|PMID:36132150|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36329109|PMID:3638722|PMID:36446039|PMID:36521553|PMID:36531003|PMID:36551643|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36672847|PMID:36674612|PMID:36704080|PMID:36717774|PMID:36898365|PMID:36979741|PMID:36988593|PMID:37009283|PMID:37088804|PMID:37149759|PMID:37239058|PMID:37262986|PMID:37436117|PMID:37438524|PMID:37445923|PMID:37453313|PMID:4012663|PMID:581456|PMID:622825|PMID:623656|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:1065243|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12958068|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14628072|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16158199|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:1739584|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17726045|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19224889|PMID:19228710|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:1953577|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19650357|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22109722|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22520355|PMID:22527104 8708960 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25586381|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25677497|PMID:25741868|PMID:25742471|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26619011|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:2675381|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27142713|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27595995|PMID:27596957|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27692705|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27879207|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560 8708960 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:27980538|PMID:27988859|PMID:27989354|PMID:27994516|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28495237|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28888541|PMID:28894253|PMID:28898322|PMID:28956312|PMID:28975465|PMID:29025590|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29081736|PMID:29101607|PMID:29127364|PMID:29141312|PMID:29144541|PMID:29155101|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29308099|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29445900|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29489040|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29615459|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29700634|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29758562|PMID:29769598|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30062048|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30159786|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30279689|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30425284|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30836094|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31300551|PMID:31317629|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31472684|PMID:31497750|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931 8708960 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:31658756|PMID:31666926|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31721094|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31788995|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32005694|PMID:32008151|PMID:32012241|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32315455|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32368696|PMID:32371905|PMID:32383162|PMID:32383811|PMID:32427313|PMID:32461654|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32548172|PMID:32566746|PMID:32581083|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32710489|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32761968|PMID:32772458|PMID:32775531|PMID:32782288|PMID:32792570|PMID:3280694|PMID:32810930|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32962506|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33119476|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33168809|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33203166|PMID:33206719|PMID:33239428|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33359728|PMID:33365035|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33462019|PMID:33471191|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33750258|PMID:33779842|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34009545|PMID:34067464|PMID:34107524|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34283047|PMID:34284872|PMID:34298181|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34337741|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34477817|PMID:34477998|PMID:34539671|PMID:34570441|PMID:34573280|PMID:34582042|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34659905|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34824606|PMID:34848827|PMID:34873480|PMID:34884835|PMID:34917121|PMID:34949663|PMID:34954471|PMID:34994613|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35085662|PMID:35095854|PMID:35098669|PMID:35127508|PMID:35145552|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35220195|PMID:35245693|PMID:35257272|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35284771|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35365198|PMID:35402282|PMID:35406420|PMID:35441217|PMID:35451682|PMID:35467778|PMID:35483985|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35599270|PMID:35652560 8708960 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:36000185|PMID:36008414|PMID:36029002|PMID:36035419|PMID:36091166|PMID:36099812|PMID:36117189|PMID:36119527|PMID:36132150|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36329109|PMID:3638722|PMID:36446039|PMID:36521553|PMID:36531003|PMID:36551643|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36672847|PMID:36674612|PMID:36704080|PMID:36717774|PMID:36898365|PMID:36979741|PMID:36988593|PMID:37009283|PMID:37088804|PMID:37091313|PMID:37149759|PMID:37239058|PMID:37262986|PMID:37436117|PMID:37438524|PMID:37445923|PMID:37453313|PMID:37712079|PMID:38003901|PMID:38017116|PMID:4012663|PMID:581456|PMID:622825|PMID:623656|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:1065243|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12958068|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14628072|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16158199|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17001642|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:1739584|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17726045|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19224889|PMID:19228710|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:1953577|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19650357|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22109722|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22520355 8708960 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24584352|PMID:24628946|PMID:24643969|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25249249|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25586381|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26388441|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26536348|PMID:26556299|PMID:26580448|PMID:26619011|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677030|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:2675381|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27142713|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27534895|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27595995|PMID:27596957|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27692705|PMID:27714650|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27854218 8708960 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:27871447|PMID:27873105|PMID:27878467|PMID:27879207|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27994516|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28488180|PMID:28492530|PMID:28492532|PMID:28495237|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28775315|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28888541|PMID:28894253|PMID:28898322|PMID:28956312|PMID:28975465|PMID:29025590|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29081736|PMID:29101607|PMID:29127364|PMID:29141312|PMID:29144541|PMID:29155101|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29308099|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29445900|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29489040|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29570743|PMID:29596542|PMID:29600275|PMID:29615459|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29700634|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29758562|PMID:29769598|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30062048|PMID:30067863|PMID:30082870|PMID:30086788|PMID:30093976|PMID:30104763|PMID:30113886|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30159786|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30279689|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30370249|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30425284|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30543347|PMID:30549301|PMID:30550363|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30709382|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30824826|PMID:30833958|PMID:30836094|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31300551|PMID:31317629|PMID:31325073|PMID:31341520 8708960 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31472684|PMID:31497750|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31721094|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31788995|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31854063|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32005694|PMID:32008151|PMID:32012241|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:32165095|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32256484|PMID:32283892|PMID:32295079|PMID:32300177|PMID:32315455|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32368696|PMID:32371905|PMID:32383162|PMID:32383811|PMID:32427313|PMID:32461654|PMID:32471518|PMID:32488064|PMID:32508039|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32548172|PMID:32566746|PMID:32581083|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32710489|PMID:32720237|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32761968|PMID:32772458|PMID:32775531|PMID:32782288|PMID:32792570|PMID:3280694|PMID:32810930|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32868316|PMID:32875559|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32962506|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33003326|PMID:33011440|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33119476|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33168809|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33203166|PMID:33206719|PMID:33239428|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33359728|PMID:33365035|PMID:33376610|PMID:33383211|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33429865|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33462019|PMID:33471191|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33525650|PMID:33544757|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33598286|PMID:33606809|PMID:33608381|PMID:33624863|PMID:33630411|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33750258|PMID:33779842|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33875564|PMID:33893081|PMID:33916788|PMID:33919281|PMID:33939675|PMID:33940787|PMID:33980423|PMID:34008015|PMID:34009545|PMID:34067464|PMID:34107524|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34283047|PMID:34284872|PMID:34298181|PMID:34299313|PMID:34301788|PMID:34308104|PMID:34326862|PMID:34337741|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34477817|PMID:34477998|PMID:34489640|PMID:34539671|PMID:34567246|PMID:34570441|PMID:34573280|PMID:34582042|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34659905|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34718612|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34791078|PMID:34820595|PMID:34824606|PMID:34848827|PMID:34873480 8708960 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:34884835|PMID:34887416|PMID:34917121|PMID:34949663|PMID:34954471|PMID:34994613|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35078817|PMID:35085662|PMID:35095854|PMID:35098669|PMID:35127508|PMID:35145272|PMID:35145552|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35218119|PMID:35220195|PMID:35245693|PMID:35257272|PMID:35260348|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35284771|PMID:35304488|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35354106|PMID:35365198|PMID:35402282|PMID:35406420|PMID:35441217|PMID:35449110|PMID:35451682|PMID:35467778|PMID:35475445|PMID:35483985|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35585550|PMID:35586824|PMID:35599270|PMID:35626031|PMID:35652560|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35777164|PMID:35806449|PMID:35884425|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:36000185|PMID:36003761|PMID:36008414|PMID:36018153|PMID:36029002|PMID:36035419|PMID:36091166|PMID:36094610|PMID:36099812|PMID:36117189|PMID:36119527|PMID:36132150|PMID:36135357|PMID:36155879|PMID:36167400|PMID:36179682|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36329109|PMID:36346689|PMID:3638722|PMID:36387226|PMID:36446039|PMID:36521553|PMID:36531003|PMID:36551643|PMID:36555667|PMID:36568162|PMID:36577833|PMID:36627197|PMID:36672847|PMID:36674612|PMID:36685941|PMID:36703223|PMID:36704080|PMID:36717774|PMID:36744932|PMID:36781323|PMID:36845387|PMID:36853301|PMID:36896836|PMID:36898365|PMID:36979741|PMID:36980780|PMID:36983044|PMID:36988593|PMID:37009283|PMID:37013556|PMID:37088804|PMID:37091313|PMID:37097610|PMID:37149759|PMID:37232349|PMID:37239058|PMID:37262986|PMID:37306523|PMID:37323311|PMID:37331604|PMID:37345735|PMID:37349538|PMID:37436117|PMID:37438524|PMID:37445923|PMID:37450374|PMID:37453313|PMID:37529773|PMID:37536918|PMID:37581139|PMID:37591896|PMID:37628581|PMID:37656691|PMID:37712079|PMID:37762649|PMID:37833309|PMID:38003901|PMID:38017116|PMID:38028594|PMID:38136308|PMID:38147532|PMID:38153744|PMID:38156855|PMID:38201484|PMID:38355628|PMID:38489015|PMID:38509102|PMID:38520597|PMID:38854973|PMID:38874686|PMID:39077936|PMID:39085400|PMID:39256447|PMID:39825153|PMID:4012663|PMID:581456|PMID:622825|PMID:623656|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:9007502 Brain Neoplasms ISO RGD:1606040 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Malignant brain neoplasm PMID:32885271 8708960 Atm ATM serine/threonine kinase gene DOID:9007692 Insulin Resistance ISO RGD:1593265 D RGD:9068941 20200609 RGD protein:decreased expression:muscle: PMID:18534819|REF_RGD_ID:8693659 8708960 Atm ATM serine/threonine kinase gene DOID:9007692 Insulin Resistance treatment ISO RGD:1606040 D RGD:9068941 20210416 RGD Associated with human immunodeficiency virus infectious disease, hepatitis C;DNA:SNP:intron: (rs11212617) (human) PMID:23171036|REF_RGD_ID:126781688 8708960 Atm ATM serine/threonine kinase gene DOID:9008114 Helicobacter Infections ISO RGD:1606040 D RGD:9068941 20210430 RGD associated with gastritis;mRNA:increased expression:mucosa of stomach (human) PMID:25069978|REF_RGD_ID:126790566 8708960 Atm ATM serine/threonine kinase gene DOID:9008114 Helicobacter Infections ISO RGD:1606040 D RGD:9068941 20210430 RGD associated with stomach cancer;mRNA:increased expression:stomach (human) PMID:29128564|REF_RGD_ID:126790563 8708960 Atm ATM serine/threonine kinase gene DOID:9008603 Rhabdoviridae Infections ameliorates ISO RGD:10199 D RGD:9068941 20210430 RGD PMID:25692705|REF_RGD_ID:126790565 8708960 Atm ATM serine/threonine kinase gene DOID:9008604 Radiation Pneumonitis susceptibility ISO RGD:1606040 D RGD:9068941 20210903 RGD associated with lung cancer;DNA:SNPs:promoter:���111G>A,126713G>A (rs189037, s373759) (human) PMID:20171797|REF_RGD_ID:150340755 8708960 Atm ATM serine/threonine kinase gene DOID:9008939 Breast Neoplasms ISO RGD:1606040 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:10817650|PMID:11382771|PMID:11805335|PMID:11830610|PMID:12072552|PMID:12195425|PMID:12552559|PMID:12969974|PMID:14562025|PMID:16652348|PMID:16832357|PMID:16958054|PMID:17001622|PMID:18575927|PMID:18634022|PMID:19431188|PMID:19781682|PMID:20301790|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21933854|PMID:22529920|PMID:22585167|PMID:22649200|PMID:24088041|PMID:24733792|PMID:25186627|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26633545|PMID:26662178|PMID:26681312|PMID:27528516|PMID:27595995|PMID:27798748|PMID:27884168|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28492532|PMID:28779002|PMID:28873162|PMID:29719442|PMID:29915382|PMID:29958926|PMID:30549301|PMID:31447099|PMID:31948886|PMID:32338768|PMID:32427313|PMID:32748564|PMID:32853339|PMID:33436325|PMID:33439686|PMID:33471991|PMID:33509806|PMID:34117267|PMID:36094610|PMID:6504056|PMID:7792600|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9537233|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:9008952 Breast Cancer, Familial ISO RGD:1606040 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10571946|PMID:1065243|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14628072|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16029571|PMID:16035317|PMID:16112413|PMID:16158199|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17001642|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:1739330|PMID:17393301|PMID:1739584|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17726045|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19650357|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19770270|PMID:19773425|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22109722|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308 8708960 Atm ATM serine/threonine kinase gene DOID:9008952 Breast Cancer, Familial ISO RGD:1606040 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24584352|PMID:24643969|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25249249|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25586381|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26536348|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26658419|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27142713|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27534895|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27714650|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27854218|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27994516|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28055970|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084 8708960 Atm ATM serine/threonine kinase gene DOID:9008952 Breast Cancer, Familial ISO RGD:1606040 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28488180|PMID:28492530|PMID:28492532|PMID:28495237|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28888541|PMID:28894253|PMID:28898322|PMID:28916186|PMID:28956312|PMID:28975465|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29141312|PMID:29155101|PMID:29163336|PMID:29271107|PMID:29308099|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29423082|PMID:29445900|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29489040|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29758562|PMID:29778231|PMID:29785153|PMID:29866652|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30067863|PMID:30082870|PMID:30086788|PMID:30093976|PMID:30104763|PMID:30113886|PMID:30128536|PMID:30154229|PMID:30159786|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30279689|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30370249|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30425284|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30543347|PMID:30549301|PMID:30550363|PMID:30553997|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30824826|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31658756|PMID:31666926|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31721094|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31788995|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31854063|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32005694|PMID:32008151|PMID:32039725 8708960 Atm ATM serine/threonine kinase gene DOID:9008952 Breast Cancer, Familial ISO RGD:1606040 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:32052936|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:32165095|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32300177|PMID:32315455|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32368696|PMID:32371905|PMID:32383162|PMID:32383811|PMID:32427313|PMID:32461654|PMID:32471518|PMID:32488064|PMID:32508039|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32548172|PMID:32566746|PMID:32581083|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32720237|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32792570|PMID:3280694|PMID:32810930|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32868316|PMID:32875559|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32962506|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32999401|PMID:33003326|PMID:33011440|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33119476|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33168809|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33203166|PMID:33206719|PMID:33239428|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33330270|PMID:33359728|PMID:33365035|PMID:33376610|PMID:33383211|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33429865|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33462019|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33598286|PMID:33606809|PMID:33608381|PMID:33624863|PMID:33630411|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33750258|PMID:33779842|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33875564|PMID:33916788|PMID:33919281|PMID:33939675|PMID:33940787|PMID:33980423|PMID:34008015|PMID:34009545|PMID:34067464|PMID:34107524|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34298181|PMID:34299313|PMID:34301788|PMID:34308104|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34445196|PMID:34453918|PMID:34477817|PMID:34477998|PMID:34489640|PMID:34539671|PMID:34567246|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34659905|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34718612|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34791078|PMID:34820595|PMID:34824606|PMID:34848827|PMID:34873480|PMID:34887416|PMID:34917121|PMID:34949663|PMID:34954471|PMID:34994613|PMID:35017683|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35078817|PMID:35085662|PMID:35098669|PMID:35127508|PMID:35145272|PMID:35145552|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35218119|PMID:35220195|PMID:35245693|PMID:35257272|PMID:35260348|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35284771|PMID:35304488|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35354106|PMID:35365198|PMID:35402282|PMID:35441217|PMID:35449110|PMID:35451682|PMID:35467778|PMID:35483985|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35585550|PMID:35599270|PMID:35626031|PMID:35652560|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35777164|PMID:35806449|PMID:35884425|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:36000185|PMID:36018153|PMID:36029002|PMID:36035419|PMID:36091166|PMID:36094610|PMID:36099812|PMID:36117189|PMID:36119527|PMID:36132150|PMID:36155879|PMID:36167400|PMID:36179682|PMID:36200007 8708960 Atm ATM serine/threonine kinase gene DOID:9008952 Breast Cancer, Familial ISO RGD:1606040 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:36243179|PMID:36315513|PMID:36315919|PMID:36329109|PMID:3638722|PMID:36387226|PMID:36446039|PMID:36451132|PMID:36521553|PMID:36531003|PMID:36551643|PMID:36555667|PMID:36568162|PMID:36577833|PMID:36627197|PMID:36672847|PMID:36685941|PMID:36703223|PMID:36704080|PMID:36717774|PMID:36781323|PMID:36845387|PMID:36898365|PMID:36979741|PMID:36980780|PMID:36988593|PMID:37013556|PMID:37088804|PMID:37091313|PMID:37097610|PMID:37149759|PMID:37239058|PMID:37262986|PMID:37306523|PMID:37331604|PMID:37345735|PMID:37349538|PMID:37436117|PMID:37438524|PMID:37445923|PMID:37450374|PMID:37453313|PMID:37529773|PMID:37536918|PMID:37581139|PMID:37591896|PMID:37628581|PMID:37712079|PMID:37762649|PMID:37833309|PMID:38003901|PMID:38017116|PMID:38028594|PMID:38136308|PMID:38147532|PMID:38153744|PMID:38156855|PMID:38201484|PMID:38355628|PMID:38489015|PMID:38509102|PMID:38520597|PMID:38854973|PMID:38874686|PMID:39085400|PMID:39256447|PMID:4012663|PMID:581456|PMID:623656|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:9008952 Breast Cancer, Familial ISO RGD:1606040 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24584352|PMID:24643969|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25249249|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25586381|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26536348|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26658419|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27142713|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27534895|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27714650|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27854218|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27994516|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28055970|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994 8708960 Atm ATM serine/threonine kinase gene DOID:9008952 Breast Cancer, Familial ISO RGD:1606040 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28488180|PMID:28492530|PMID:28492532|PMID:28495237|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28888541|PMID:28894253|PMID:28898322|PMID:28916186|PMID:28956312|PMID:28975465|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29141312|PMID:29155101|PMID:29163336|PMID:29271107|PMID:29308099|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29423082|PMID:29445900|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29489040|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29758562|PMID:29778231|PMID:29785153|PMID:29866652|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30067863|PMID:30082870|PMID:30086788|PMID:30093976|PMID:30104763|PMID:30113886|PMID:30128536|PMID:30154229|PMID:30159786|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30279689|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30370249|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30425284|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30543347|PMID:30549301|PMID:30550363|PMID:30553997|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30824826|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31658756|PMID:31666926|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31721094|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31788995|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31854063|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32005694|PMID:32008151|PMID:32039725|PMID:32052936 8708960 Atm ATM serine/threonine kinase gene DOID:9008952 Breast Cancer, Familial ISO RGD:1606040 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:32165095|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32300177|PMID:32315455|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32368696|PMID:32371905|PMID:32383162|PMID:32383811|PMID:32427313|PMID:32461654|PMID:32471518|PMID:32488064|PMID:32508039|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32548172|PMID:32566746|PMID:32581083|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32720237|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32792570|PMID:3280694|PMID:32810930|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32868316|PMID:32875559|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32962506|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32999401|PMID:33003326|PMID:33011440|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33119476|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33168809|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33203166|PMID:33206719|PMID:33239428|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33330270|PMID:33359728|PMID:33365035|PMID:33376610|PMID:33383211|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33429865|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33462019|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33525650|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33598286|PMID:33606809|PMID:33608381|PMID:33624863|PMID:33630411|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33750258|PMID:33779842|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33875564|PMID:33916788|PMID:33919281|PMID:33939675|PMID:33940787|PMID:33980423|PMID:34008015|PMID:34009545|PMID:34067464|PMID:34107524|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34298181|PMID:34299313|PMID:34301788|PMID:34308104|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34445196|PMID:34453918|PMID:34477817|PMID:34477998|PMID:34489640|PMID:34539671|PMID:34567246|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34659905|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34718612|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34791078|PMID:34820595|PMID:34824606|PMID:34848827|PMID:34873480|PMID:34887416|PMID:34917121|PMID:34949663|PMID:34954471|PMID:34994613|PMID:35017683|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35078817|PMID:35085662|PMID:35095854|PMID:35098669|PMID:35127508|PMID:35145272|PMID:35145552|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35218119|PMID:35220195|PMID:35245693|PMID:35257272|PMID:35260348|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35284771|PMID:35304488|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35354106|PMID:35365198|PMID:35402282|PMID:35441217|PMID:35449110|PMID:35451682|PMID:35467778|PMID:35483985|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35585550|PMID:35586824|PMID:35599270|PMID:35626031|PMID:35652560|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35777164|PMID:35806449|PMID:35884425|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:36000185|PMID:36003761|PMID:36008414|PMID:36018153|PMID:36029002|PMID:36035419|PMID:36091166|PMID:36094610|PMID:36099812|PMID:36117189|PMID:36119527 8708960 Atm ATM serine/threonine kinase gene DOID:9008952 Breast Cancer, Familial ISO RGD:1606040 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:36132150|PMID:36155879|PMID:36167400|PMID:36179682|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36329109|PMID:36346689|PMID:3638722|PMID:36387226|PMID:36446039|PMID:36451132|PMID:36521553|PMID:36531003|PMID:36551643|PMID:36555667|PMID:36568162|PMID:36577833|PMID:36627197|PMID:36672847|PMID:36685941|PMID:36703223|PMID:36704080|PMID:36717774|PMID:36744932|PMID:36781323|PMID:36845387|PMID:36853301|PMID:36896836|PMID:36898365|PMID:36979741|PMID:36980780|PMID:36983044|PMID:36988593|PMID:37013556|PMID:37088804|PMID:37091313|PMID:37097610|PMID:37149759|PMID:37232349|PMID:37239058|PMID:37262986|PMID:37306523|PMID:37323311|PMID:37331604|PMID:37345735|PMID:37349538|PMID:37436117|PMID:37438524|PMID:37445923|PMID:37450374|PMID:37453313|PMID:37529773|PMID:37536918|PMID:37581139|PMID:37591896|PMID:37628581|PMID:37712079|PMID:37762649|PMID:37833309|PMID:38003901|PMID:38017116|PMID:38028594|PMID:38136308|PMID:38147532|PMID:38153744|PMID:38156855|PMID:38201484|PMID:38355628|PMID:38489015|PMID:38509102|PMID:38520597|PMID:38854973|PMID:38874686|PMID:39085400|PMID:39256447|PMID:39825153|PMID:4012663|PMID:581456|PMID:623656|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:9009116 Urinary Bladder Neoplasm ISO RGD:1606040 D RGD:8554872 20250218 ClinVar ClinVar Annotator: match by term: Urinary Bladder Neoplasms PMID:28492532|PMID:31050087 8708960 Atm ATM serine/threonine kinase gene DOID:9256 colorectal cancer ISO RGD:1606040 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:100011|PMID:10330348|PMID:10817650|PMID:10980530|PMID:12646636|PMID:15039971|PMID:16266405|PMID:21665257|PMID:21833744|PMID:25374739|PMID:25525159|PMID:25614872|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26681312|PMID:27433846|PMID:28492532|PMID:28843361|PMID:29360161|PMID:29785153|PMID:30067863|PMID:30772474|PMID:31159747|PMID:31285527|PMID:32295079|PMID:33050356|PMID:33330270|PMID:34199532|PMID:35716007|PMID:37091313|PMID:9443866|PMID:9887333 8708960 Atm ATM serine/threonine kinase gene DOID:9256 colorectal cancer disease_progression ISO RGD:1606040 D RGD:9068941 20210430 RGD PMID:16533773|REF_RGD_ID:126790575 8708960 Atm ATM serine/threonine kinase gene DOID:9256 colorectal cancer disease_progression ISO RGD:1606040 D RGD:9068941 20210903 RGD DNA:mutations PMID:30814645|REF_RGD_ID:150340714 8708960 Atm ATM serine/threonine kinase gene DOID:9261 nasopharynx carcinoma ISO RGD:1606040 D RGD:9068941 20210409 RGD protein:decreased expression:epithelium of nasopharynx (human) PMID:29230817|REF_RGD_ID:126779560 8708960 Atm ATM serine/threonine kinase gene DOID:9261 nasopharynx carcinoma ISO RGD:1606040 D RGD:9068941 20210430 RGD associated with Epstein-Barr Virus Infections;mRNA:decreased expression:nasopharyngeal tissue (human) PMID:19142888|REF_RGD_ID:126790562 8708960 Atm ATM serine/threonine kinase gene DOID:9261 nasopharynx carcinoma treatment ISO RGD:1606040 D RGD:9068941 20210827 RGD PMID:28820634|REF_RGD_ID:150340692 8708960 Atm ATM serine/threonine kinase gene DOID:9460 uterine corpus cancer ISO RGD:1606040 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Uterine corpus cancer PMID:11805335|PMID:15279808|PMID:16864838|PMID:19535770|PMID:19605768|PMID:21354641|PMID:21778326|PMID:21792198|PMID:21965147|PMID:22146522|PMID:22213089|PMID:25122203|PMID:2557216|PMID:25572163|PMID:25741868|PMID:25957637|PMID:25980754|PMID:26467025|PMID:26681312|PMID:26976419|PMID:28126470|PMID:28492532|PMID:28843361|PMID:29478780|PMID:29909963|PMID:30322717|PMID:30549301|PMID:30579816|PMID:30819809|PMID:31050087|PMID:32854451|PMID:32875559|PMID:33471991|PMID:34445196|PMID:37091313 8708960 Atm ATM serine/threonine kinase gene DOID:9538 multiple myeloma ISO RGD:1606040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 8708960 Atm ATM serine/threonine kinase gene DOID:9655 oral mucosa leukoplakia ISO RGD:1606040 D RGD:9068941 20210903 RGD protein:increased expression:mucosa of oral region (human) PMID:18288488|REF_RGD_ID:150340709 8708960 Atm ATM serine/threonine kinase gene DOID:9655 oral mucosa leukoplakia severity ISO RGD:1606040 D RGD:9068941 20210820 RGD protein:increased expression:mucosa of oral region (human) PMID:29928356|REF_RGD_ID:150340604 8708960 Atm ATM serine/threonine kinase gene DOID:9669 senile cataract susceptibility ISO RGD:1606040 D RGD:9068941 20210430 RGD DNA:SNP:3' UTR: (rs4585) (human) PMID:29156695|REF_RGD_ID:126790564 8709027 Smox spermine oxidase gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1314443 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 8709027 Smox spermine oxidase gene DOID:3525 middle cerebral artery infarction ISO RGD:1314443 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30576531 8709027 Smox spermine oxidase gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1314443 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 8709027 Smox spermine oxidase gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:1314443 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Inosine triphosphatase deficiency PMID:26224535|PMID:28492532|PMID:34989426 8709027 Smox spermine oxidase gene DOID:9007096 Stroke ISO RGD:1314443 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16269634 8709056 Pheta1 PH domain containing endocytic trafficking adaptor 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1602835 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25944804 8709063 Hdac11 histone deacetylase 11 gene DOID:0060417 3p deletion syndrome ISO RGD:1323302 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 8709084 S100a9 S100 calcium binding protein A9 gene DOID:0111940 immunodeficiency 42 ISO RGD:1352981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8709084 S100a9 S100 calcium binding protein A9 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1352981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8709084 S100a9 S100 calcium binding protein A9 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1352981 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8709084 S100a9 S100 calcium binding protein A9 gene DOID:10608 celiac disease ISO RGD:1352981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 8709084 S100a9 S100 calcium binding protein A9 gene DOID:11054 urinary bladder cancer ISO RGD:1352981 D RGD:9068941 20200609 RGD mRNA:increased expression:urinary bladder PMID:17970044|REF_RGD_ID:2316906 8709084 S100a9 S100 calcium binding protein A9 gene DOID:11054 urinary bladder cancer ISO RGD:620267 D RGD:9068941 20200609 RGD mRNA:increased expression:urinary bladder PMID:17970044|REF_RGD_ID:2316906 8709084 S100a9 S100 calcium binding protein A9 gene DOID:11054 urinary bladder cancer ISO RGD:733175 D RGD:9068941 20200609 RGD mRNA:increased expression:urinary bladder PMID:17970044|REF_RGD_ID:2316906 8709084 S100a9 S100 calcium binding protein A9 gene DOID:11394 adult respiratory distress syndrome ISO RGD:1352981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 8709084 S100a9 S100 calcium binding protein A9 gene DOID:1540 parathyroid carcinoma ISO RGD:1352981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8709084 S100a9 S100 calcium binding protein A9 gene DOID:5812 MHC class II deficiency ISO RGD:1352981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8709084 S100a9 S100 calcium binding protein A9 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1352981 D RGD:9068941 20220901 RGD mRNA:increased expression:liver (human) PMID:35693827|REF_RGD_ID:153344586 8709084 S100a9 S100 calcium binding protein A9 gene DOID:820 myocarditis ISO RGD:1352981 D RGD:9068941 20200609 RGD PMID:19151078|REF_RGD_ID:2316903 8709084 S100a9 S100 calcium binding protein A9 gene DOID:9000058 Keloid ISO RGD:1352981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 8709084 S100a9 S100 calcium binding protein A9 gene DOID:9000955 Acute Otitis Media IEP D RGD:11553828|PMID:26711468 20161013 RGD mRNA, protein:increased expression:mucosa of middle ear 8709084 S100a9 S100 calcium binding protein A9 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1352981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8709084 S100a9 S100 calcium binding protein A9 gene DOID:9002457 Experimental Arthritis ISO RGD:620267 D RGD:9068941 20200609 RGD PMID:8343166|REF_RGD_ID:633930 8709084 S100a9 S100 calcium binding protein A9 gene DOID:9002928 Colonic Neoplasms ISO RGD:1352981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 8709084 S100a9 S100 calcium binding protein A9 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1352981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8709157 Asxl2 ASXL transcriptional regulator 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1312315 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8709157 Asxl2 ASXL transcriptional regulator 2 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1312315 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome PMID:24614070|PMID:26866722|PMID:28492532|PMID:29900417 8709157 Asxl2 ASXL transcriptional regulator 2 gene DOID:10908 hydrocephalus ISO RGD:1312315 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe hydrocephalus PMID:25741868 8709157 Asxl2 ASXL transcriptional regulator 2 gene DOID:11054 urinary bladder cancer ISO RGD:1312315 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24121791 8709157 Asxl2 ASXL transcriptional regulator 2 gene DOID:630 genetic disease ISO RGD:1312315 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8709157 Asxl2 ASXL transcriptional regulator 2 gene DOID:9003728 Shashi-Pena Syndrome ISO RGD:1312315 D RGD:7240710 20190315 OMIM 8709157 Asxl2 ASXL transcriptional regulator 2 gene DOID:9003728 Shashi-Pena Syndrome ISO RGD:1312315 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: ASXL2-related condition | ClinVar Annotator: match by term: Shashi-Pena syndrome PMID:25741868|PMID:27693232|PMID:28492532 8709157 Asxl2 ASXL transcriptional regulator 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312315 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8709157 Asxl2 ASXL transcriptional regulator 2 gene DOID:9008582 Developmental Disease ISO RGD:1312315 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8709157 Asxl2 ASXL transcriptional regulator 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1312315 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27798625 8709179 Plcg2 phospholipase C gamma 2 gene DOID:0050589 inflammatory bowel disease ISO RGD:732989 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28067908 8709179 Plcg2 phospholipase C gamma 2 gene DOID:0070615 autoinflammation, antibody deficiency, and immune dysregulation syndrome ISO RGD:732989 D RGD:7240710 20180130 OMIM 8709179 Plcg2 phospholipase C gamma 2 gene DOID:0070615 autoinflammation, antibody deficiency, and immune dysregulation syndrome ISO RGD:732989 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Autoinflammation, antibody deficiency, and immune dysregulation syndrome | ClinVar Annotator: match by term: Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated PMID:16199547|PMID:23000145|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30619256|PMID:34298581 8709179 Plcg2 phospholipase C gamma 2 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:732989 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:28492532|PMID:31780880 8709179 Plcg2 phospholipase C gamma 2 gene DOID:0090061 familial cold autoinflammatory syndrome ISO RGD:732989 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome PMID:25741868 8709179 Plcg2 phospholipase C gamma 2 gene DOID:0090064 familial cold autoinflammatory syndrome 3 ISO RGD:732989 D RGD:7240710 20180130 OMIM 8709179 Plcg2 phospholipase C gamma 2 gene DOID:0090064 familial cold autoinflammatory syndrome 3 ISO RGD:732989 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: FAMILIAL ATYPICAL COLD URTICARIA | ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 3 PMID:16199547|PMID:17576681|PMID:22236196|PMID:24033266|PMID:25640679|PMID:25741868|PMID:27577878|PMID:28166811|PMID:28492532|PMID:29590070|PMID:29921932|PMID:30273710|PMID:30344948|PMID:30619256|PMID:31853824|PMID:32047491|PMID:32185379|PMID:32671674|PMID:32894242|PMID:33859323|PMID:33936634|PMID:34329649|PMID:35753512|PMID:36703223|PMID:37769878|PMID:38790019|PMID:9536098 8709179 Plcg2 phospholipase C gamma 2 gene DOID:10652 Alzheimer's disease ISO RGD:732989 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28714976 8709179 Plcg2 phospholipase C gamma 2 gene DOID:630 genetic disease ISO RGD:732989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8709179 Plcg2 phospholipase C gamma 2 gene DOID:9000972 Fever ISO RGD:732989 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Episodic fever PMID:28492532 8709179 Plcg2 phospholipase C gamma 2 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:732989 D RGD:9068941 20250109 CTD CTD Direct Evidence: marker/mechanism PMID:27542411 8709179 Plcg2 phospholipase C gamma 2 gene DOID:9008464 Cryopyrin-Associated Periodic Syndromes ISO RGD:732989 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: ANTIBODY DEFICIENCY AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED PMID:16199547|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30619256 8709179 Plcg2 phospholipase C gamma 2 gene DOID:9008464 Cryopyrin-Associated Periodic Syndromes ISO RGD:732989 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: ANTIBODY DEFICIENCY AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED | ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome PMID:16199547|PMID:24033266|PMID:25741868|PMID:28166811|PMID:28492532|PMID:29921932|PMID:30619256 8709179 Plcg2 phospholipase C gamma 2 gene DOID:9008464 Cryopyrin-Associated Periodic Syndromes ISO RGD:732989 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: ANTIBODY DEFICIENCY AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED PMID:16199547|PMID:17576681|PMID:24033266|PMID:25741868|PMID:28166811|PMID:28492532|PMID:29921932|PMID:30619256|PMID:9536098 8709218 Mcm10 minichromosome maintenance 10 replication initiation factor gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1322725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 8709218 Mcm10 minichromosome maintenance 10 replication initiation factor gene DOID:0061051 immunodeficiency 80 ISO RGD:1322725 D RGD:7240710 20210526 OMIM 8709218 Mcm10 minichromosome maintenance 10 replication initiation factor gene DOID:0061051 immunodeficiency 80 ISO RGD:1322725 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Immunodeficiency 80 with or without congenital cardiomyopathy PMID:25741868|PMID:32865517|PMID:33712616 8709218 Mcm10 minichromosome maintenance 10 replication initiation factor gene DOID:0080600 COVID-19 ISO RGD:1322725 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8709218 Mcm10 minichromosome maintenance 10 replication initiation factor gene DOID:1070 primary open angle glaucoma ISO RGD:1322725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary open angle glaucoma PMID:28492532 8709218 Mcm10 minichromosome maintenance 10 replication initiation factor gene DOID:684 hepatocellular carcinoma ISO RGD:1322725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8709255 Trim65 tripartite motif containing 65 gene DOID:0050797 peroxisomal acyl-CoA oxidase deficiency ISO RGD:1352380 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: STRAIGHT-CHAIN ACYL-CoA OXIDASE DEFICIENCY PMID:28492532 8709267 Capzb capping actin protein of muscle Z-line subunit beta gene DOID:0060369 Parkinson's disease 6 ISO RGD:1347618 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 8709267 Capzb capping actin protein of muscle Z-line subunit beta gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1347618 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8709267 Capzb capping actin protein of muscle Z-line subunit beta gene DOID:0070541 3-hydroxy-3-methylglutaryl-CoA lyase deficiency ISO RGD:1347618 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 8709267 Capzb capping actin protein of muscle Z-line subunit beta gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1347618 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hyperprolinemia type 2 PMID:28492532 8709267 Capzb capping actin protein of muscle Z-line subunit beta gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1347618 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 8709267 Capzb capping actin protein of muscle Z-line subunit beta gene DOID:1307 dementia ISO RGD:1359099 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:20545768|REF_RGD_ID:9685031 8709267 Capzb capping actin protein of muscle Z-line subunit beta gene DOID:305 carcinoma ISO RGD:1347618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8709267 Capzb capping actin protein of muscle Z-line subunit beta gene DOID:9000039 Spinal Cord Injuries ISO RGD:1359099 D RGD:9068941 20200609 RGD protein:decreased expression:spinal cord PMID:20141154|REF_RGD_ID:9685028 8709267 Capzb capping actin protein of muscle Z-line subunit beta gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1347618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8709267 Capzb capping actin protein of muscle Z-line subunit beta gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1347618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21751358 8709267 Capzb capping actin protein of muscle Z-line subunit beta gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1347618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8709291 Pola2 DNA polymerase alpha 2, accessory subunit gene DOID:0061060 immunodeficiency 90 ISO RGD:731623 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8709291 Pola2 DNA polymerase alpha 2, accessory subunit gene DOID:1059 intellectual disability ISO RGD:731623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8709291 Pola2 DNA polymerase alpha 2, accessory subunit gene DOID:1935 Bardet-Biedl syndrome ISO RGD:731623 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8709291 Pola2 DNA polymerase alpha 2, accessory subunit gene DOID:2746 glycogen storage disease V ISO RGD:731623 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8709291 Pola2 DNA polymerase alpha 2, accessory subunit gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:731623 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8709322 Kitlg KIT ligand gene DOID:0110590 autosomal dominant nonsyndromic deafness 69 ISO RGD:737118 D RGD:7240710 20180130 OMIM 8709322 Kitlg KIT ligand gene DOID:0110590 autosomal dominant nonsyndromic deafness 69 ISO RGD:737118 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 69 | ClinVar Annotator: match by term: Deafness, autosomal dominant 69, unilateral or asymmetric PMID:16199547|PMID:25741868|PMID:26522471|PMID:28492532|PMID:33229591 8709322 Kitlg KIT ligand gene DOID:0110980 Joubert syndrome 1 ISO RGD:737118 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:19764032|PMID:23954617|PMID:27821535|PMID:28492532 8709322 Kitlg KIT ligand gene DOID:0111373 familial progressive hyperpigmentation with or without hypopigmentation ISO RGD:737118 D RGD:7240710 20180130 OMIM 8709322 Kitlg KIT ligand gene DOID:0111373 familial progressive hyperpigmentation with or without hypopigmentation ISO RGD:737118 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hyperpigmentation with or without hypopigmentation, familial progressive PMID:15040480|PMID:15551335|PMID:19375057|PMID:21368769|PMID:24033266|PMID:25741868|PMID:28492532 8709322 Kitlg KIT ligand gene DOID:1749 squamous cell carcinoma ISO RGD:12410173 D RGD:9068941 20240725 OMIA Squamous cell carcinoma of the digit PMID:1399782|PMID:16231717|PMID:17609360|PMID:23555311|PMID:24936030|PMID:26699508|PMID:2800263|PMID:36851392|PMID:36851451|PMID:38785565|PMID:6354679|PMID:6731733|PMID:7657570 8709322 Kitlg KIT ligand gene DOID:305 carcinoma ISO RGD:737118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8709322 Kitlg KIT ligand gene DOID:3587 pancreatic ductal carcinoma ISO RGD:737118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24979617 8709322 Kitlg KIT ligand gene DOID:3663 cutaneous mastocytosis ISO RGD:737119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20559008 8709322 Kitlg KIT ligand gene DOID:630 genetic disease ISO RGD:737118 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8709322 Kitlg KIT ligand gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:737118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8709322 Kitlg KIT ligand gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:737118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19483681|PMID:19483682 8709322 Kitlg KIT ligand gene DOID:9000750 Waardenburg Syndrome Type 2F ISO RGD:737118 D RGD:7240710 20220720 OMIM 8709322 Kitlg KIT ligand gene DOID:9000750 Waardenburg Syndrome Type 2F ISO RGD:737118 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome, type 2F PMID:25741868|PMID:28504826|PMID:35543077 8709322 Kitlg KIT ligand gene DOID:9001472 Nasal Polyps ISO RGD:737118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15813808 8709322 Kitlg KIT ligand gene DOID:9001581 Constipation ISO RGD:3086 D RGD:9068941 20220505 RGD mRNA, protein:decreased expression:colon PMID:33792838|REF_RGD_ID:152025536 8709322 Kitlg KIT ligand gene DOID:9002566 Gastric Reperfusion Injury ISO RGD:3086 D RGD:9068941 20200609 RGD mRNA:decreased expression:stomach: PMID:20040059|REF_RGD_ID:12911222 8709322 Kitlg KIT ligand gene DOID:9004207 Testicular Neoplasms ISO RGD:737118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19483681|PMID:19483682 8709322 Kitlg KIT ligand gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:737118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8709322 Kitlg KIT ligand gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:737118 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:1720698 8709322 Kitlg KIT ligand gene DOID:9007102 Myocardial Ischemia ISO RGD:737118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8709322 Kitlg KIT ligand gene DOID:9007207 Skin/Hair/Eye Pigmentation, Variation In, 7 ISO RGD:737118 D RGD:7240710 20221207 OMIM 8709322 Kitlg KIT ligand gene DOID:9007207 Skin/Hair/Eye Pigmentation, Variation In, 7 ISO RGD:737118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 7, DARK/LIGHT SKIN PMID:17952075|PMID:18083106|PMID:24880339 8709322 Kitlg KIT ligand gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:737119 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12594235 8709322 Kitlg KIT ligand gene DOID:9970 obesity ISO RGD:737119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23954404 8709367 Alx3 ALX homeobox 3 gene DOID:0080074 neural tube defect ISO RGD:1352384 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism PMID:20534379 8709367 Alx3 ALX homeobox 3 gene DOID:0080416 developmental and epileptic encephalopathy 32 ISO RGD:1352384 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 32 PMID:17634333|PMID:25950944|PMID:27457812|PMID:28492532|PMID:33802230 8709367 Alx3 ALX homeobox 3 gene DOID:0081044 frontonasal dysplasia ISO RGD:1352384 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Frontorhiny PMID:17963218|PMID:19409524|PMID:25741868|PMID:28492532 8709367 Alx3 ALX homeobox 3 gene DOID:0081045 frontonasal dysplasia 1 ISO RGD:1352384 D RGD:7240710 20180130 OMIM 8709367 Alx3 ALX homeobox 3 gene DOID:0081045 frontonasal dysplasia 1 ISO RGD:1352384 D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: ALX3-related condition PMID:28492532 8709367 Alx3 ALX homeobox 3 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1352384 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 8709367 Alx3 ALX homeobox 3 gene DOID:12849 autistic disorder ISO RGD:1352384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8709367 Alx3 ALX homeobox 3 gene DOID:630 genetic disease ISO RGD:1352384 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8709375 Mbd1 methyl-CpG binding domain protein 1 gene DOID:1059 intellectual disability ISO RGD:1314332 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8709375 Mbd1 methyl-CpG binding domain protein 1 gene DOID:12849 autistic disorder ISO RGD:1314333 D RGD:9068941 20200609 RGD PMID:18385101|REF_RGD_ID:9588655 8709375 Mbd1 methyl-CpG binding domain protein 1 gene DOID:1324 lung cancer susceptibility ISO RGD:1314332 D RGD:9068941 20200609 RGD DNA:snp::c.1221+135T>A (rs140689) (human) PMID:18668384|REF_RGD_ID:9588657 8709375 Mbd1 methyl-CpG binding domain protein 1 gene DOID:1324 lung cancer susceptibility ISO RGD:1314332 D RGD:9068941 20200609 RGD DNA:snps, deletion:promoter, cds:g.-634G>A, g.-501delT, p.P401A (human) PMID:16284366|REF_RGD_ID:9588651 8709375 Mbd1 methyl-CpG binding domain protein 1 gene DOID:224 transient cerebral ischemia ISO RGD:1305980 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:12421618|REF_RGD_ID:9587846 8709375 Mbd1 methyl-CpG binding domain protein 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1314332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 8709375 Mbd1 methyl-CpG binding domain protein 1 gene DOID:9007090 Experimental Seizures ISO RGD:1305980 D RGD:9068941 20241214 RGD mRNA:increased expression:dentate gyrus PMID:12123686|REF_RGD_ID:9587847 8709424 Crct1 cysteine rich C-terminal 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1353300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8709424 Crct1 cysteine rich C-terminal 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1353300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8709424 Crct1 cysteine rich C-terminal 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1353300 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8709424 Crct1 cysteine rich C-terminal 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1353300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8709424 Crct1 cysteine rich C-terminal 1 gene DOID:5812 MHC class II deficiency ISO RGD:1353300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8709424 Crct1 cysteine rich C-terminal 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1353300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:0050424 familial adenomatous polyposis ISO RGD:1348983 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL | ClinVar Annotator: match by term: Polymerase proofreading-related adenomatous polyposis PMID:20951805|PMID:21157497|PMID:22980975|PMID:23636398|PMID:24033266|PMID:25079317|PMID:25124163|PMID:25224212|PMID:25529843|PMID:25559809|PMID:25642631|PMID:25741868|PMID:25860647|PMID:26467025|PMID:26822575|PMID:28427513|PMID:28492532|PMID:29120461|PMID:29754823|PMID:29987844|PMID:30194485|PMID:30503519|PMID:32424176|PMID:32792570|PMID:35108036 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:0050424 familial adenomatous polyposis ISO RGD:1348983 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Classic or attenuated familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: Polymerase proofreading-related adenomatous polyposis PMID:20951805|PMID:21157497|PMID:22980975|PMID:23636398|PMID:24033266|PMID:25079317|PMID:25124163|PMID:25224212|PMID:25529843|PMID:25559809|PMID:25642631|PMID:25741868|PMID:25860647|PMID:26467025|PMID:26822575|PMID:28427513|PMID:28492532|PMID:29120461|PMID:29754823|PMID:29987844|PMID:30194485|PMID:30503519|PMID:32424176|PMID:32792570|PMID:35108036|PMID:35534205 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:0050424 familial adenomatous polyposis ISO RGD:1348983 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Polymerase proofreading-related adenomatous polyposis PMID:20951805|PMID:21157497|PMID:22980975|PMID:23636398|PMID:24033266|PMID:25079317|PMID:25124163|PMID:25224212|PMID:25529843|PMID:25559809|PMID:25642631|PMID:25741868|PMID:25860647|PMID:26467025|PMID:26822575|PMID:28427513|PMID:28492532|PMID:29120461|PMID:29754823|PMID:29987844|PMID:30194485|PMID:30503519|PMID:32424176|PMID:32792570|PMID:35108036|PMID:35534205|PMID:35534704 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:0060590 XFE progeroid syndrome ISO RGD:1348983 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: XFE progeroid syndrome PMID:25741868|PMID:28492532 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:0112182 mismatch repair cancer syndrome ISO RGD:1348983 D RGD:9068941 20220721 RGD DNA:SNP:CDS:rs4077170 (human) PMID:28218421|REF_RGD_ID:153297765 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:1324 lung cancer severity ISO RGD:1348983 D RGD:9068941 20220224 RGD DNA:missense mutation:CDS:p.A252V (human) PMID:17855454|REF_RGD_ID:11567235 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:1380 endometrial cancer ameliorates ISO RGD:1348983 D RGD:9068941 20220204 RGD DNA:missense mutations:CDS:p.P286R, p.V411L (human) PMID:29659608|REF_RGD_ID:151347857 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:1380 endometrial cancer ameliorates ISO RGD:1348983 D RGD:9068941 20220204 RGD DNA:missense mutations:multiple (human) PMID:29559562|REF_RGD_ID:151347650 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:1380 endometrial cancer disease_progression ISO RGD:1348983 D RGD:9068941 20220204 RGD protein:increased expression:endometrium (human) PMID:31866764|REF_RGD_ID:151347644 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:1380 endometrial cancer onset ISO RGD:1348983 D RGD:9068941 20220204 RGD DNA:polymorphisms:multiple (human) PMID:25224212|REF_RGD_ID:151347645 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:1520 colon carcinoma ISO RGD:1348983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma | ClinVar Annotator: match by term: Colonic carcinoma PMID:15766587|PMID:23263490|PMID:23447401|PMID:24033266|PMID:24480973|PMID:24525744|PMID:25111073|PMID:25224212|PMID:25637381|PMID:25741868|PMID:26467025|PMID:27244218|PMID:28125075|PMID:28492532|PMID:28873162 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:1520 colon carcinoma ISO RGD:1348983 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma | ClinVar Annotator: match by term: Colonic carcinoma PMID:15766587|PMID:16199547|PMID:23230001|PMID:24033266|PMID:24480973|PMID:24525744|PMID:25637381|PMID:25741868|PMID:25948378|PMID:26467025|PMID:27244218|PMID:28125075|PMID:28492532|PMID:28873162|PMID:29987844|PMID:30503519|PMID:32792570|PMID:34347074|PMID:35264596 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:1520 colon carcinoma ISO RGD:1348983 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma PMID:15766587|PMID:16199547|PMID:23230001|PMID:24033266|PMID:24480973|PMID:24525744|PMID:25637381|PMID:25741868|PMID:25948378|PMID:26467025|PMID:27244218|PMID:28125075|PMID:28492532|PMID:28873162|PMID:29987844|PMID:30503519|PMID:32792570|PMID:34326862|PMID:34347074|PMID:35264596|PMID:35534704 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:1612 breast cancer ISO RGD:1348983 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:21701589|PMID:23263490|PMID:24033266|PMID:25741868|PMID:26251183|PMID:26302956|PMID:26467025|PMID:27153395|PMID:28492532|PMID:28857155|PMID:28873162|PMID:29458332|PMID:29641532|PMID:30267214|PMID:30503519|PMID:31265121|PMID:31970404|PMID:32522261|PMID:32792570|PMID:32885271|PMID:33558524|PMID:34326862|PMID:35264596 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:218 ascending colon cancer onset ISO RGD:1348983 D RGD:9068941 20220204 RGD DNA:mutations:multiple (human) PMID:28404093|REF_RGD_ID:151347649 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:218 ascending colon cancer susceptibility ISO RGD:1348983 D RGD:9068941 20220204 RGD DNA:missense mutation:CDS, exon 9:p.P286R (human) PMID:27612425|REF_RGD_ID:151347640 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:218 ascending colon cancer susceptibility ISO RGD:1348983 D RGD:9068941 20220204 RGD DNA:mutations:multiple (human, non-Asian) PMID:33125191|REF_RGD_ID:151347651 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:219 colon cancer ISO RGD:1348983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colon cancer PMID:25741868|PMID:28492532 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:2394 ovarian cancer ISO RGD:1348983 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Familial ovarian cancer PMID:25741868|PMID:26467025|PMID:28492532 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:2661 myoepithelioma ISO RGD:1348983 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:2871 endometrial carcinoma ISO RGD:1348983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:25741868|PMID:26467025|PMID:27217144|PMID:28492532 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:3070 high grade glioma ISO RGD:1348983 D RGD:8554872 20241126 ClinVar ClinVar Annotator: match by term: Pediatric high-grade glioma PMID:25741868|PMID:26467025|PMID:28492532|PMID:30093976|PMID:31265121|PMID:31970404|PMID:32522261|PMID:32792570 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:3529 congenital myopathy 1A ISO RGD:1348983 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Shy-Magee syndrome PMID:24033266|PMID:25741868|PMID:26467025|PMID:27854218|PMID:28492532 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:3907 lung squamous cell carcinoma ameliorates ISO RGD:1348983 D RGD:9068941 20220204 RGD DNA:mutations:multiple (human) PMID:29650000|REF_RGD_ID:151347653 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:3908 lung non-small cell carcinoma ameliorates ISO RGD:1348983 D RGD:9068941 20220204 RGD DNA:mutations:multiple (human) PMID:32433714|REF_RGD_ID:151347639 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:7305 astroblastoma ISO RGD:1348983 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Neuroepithelial neoplasm PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29987844|PMID:33194656|PMID:37990341 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9000282 IMAGEI Syndrome ISO RGD:1348983 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: IMAGEI SYNDROME | ClinVar Annotator: match by term: Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency PMID:14760276|PMID:16835919|PMID:17576681|PMID:20091185|PMID:21129811|PMID:23230001|PMID:23263490|PMID:23447401|PMID:24033266|PMID:25741868|PMID:25948378|PMID:26467025|PMID:27153395|PMID:27854218|PMID:28125075|PMID:28195393|PMID:28492532|PMID:28873162|PMID:29056344|PMID:29212164|PMID:29338689|PMID:29754823|PMID:29987844|PMID:30503519|PMID:31769227|PMID:32546565|PMID:32792570|PMID:33194656|PMID:34326862|PMID:35264596|PMID:35534704|PMID:35599849|PMID:35860951|PMID:37990341|PMID:9536098 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9000282 IMAGEI Syndrome susceptibility ISO RGD:1348983 D RGD:7240710 20250305 OMIM 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9004265 Endometrioid Carcinomas ISO RGD:1348983 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Endometrioid adenocarcinoma PMID:23263490|PMID:23447401|PMID:24525744|PMID:24844595|PMID:25224212|PMID:25228659|PMID:28492532 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9004265 Endometrioid Carcinomas ameliorates ISO RGD:1348983 D RGD:9068941 20220204 RGD DNA:mutations:multiple (human) PMID:29505428|REF_RGD_ID:151347648 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348983 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:15285897|PMID:15766587|PMID:16699561|PMID:17067213|PMID:17576681|PMID:19966286|PMID:20084279|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23636398|PMID:24033266|PMID:24410847|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25079317|PMID:25111073|PMID:25124163|PMID:25188385|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27720647|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28188185|PMID:28195393|PMID:28202063|PMID:28218421|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28608266|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29625052|PMID:29641532|PMID:29755653|PMID:29879026|PMID:29987844|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30640733|PMID:30765821|PMID:30827058|PMID:30917185|PMID:31034466|PMID:31285513|PMID:31673068|PMID:31769227|PMID:31829442|PMID:31866764|PMID:32169874|PMID:32424176|PMID:32546565|PMID:32567205|PMID:32792570|PMID:32992294|PMID:33001133|PMID:33193653|PMID:9536098 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348983 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:15285897|PMID:15766587|PMID:16699561|PMID:17067213|PMID:17576681|PMID:19966286|PMID:20084279|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23636398|PMID:24033266|PMID:24410847|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25079317|PMID:25111073|PMID:25124163|PMID:25188385|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27720647|PMID:27854218|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28188185|PMID:28195393|PMID:28202063|PMID:28218421|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28608266|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29625052|PMID:29641532|PMID:29755653|PMID:29879026|PMID:29987844|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30640733|PMID:30765821|PMID:30827058|PMID:30917185|PMID:31034466|PMID:31285513|PMID:31673068|PMID:31769227|PMID:31829442|PMID:31866764|PMID:32169874|PMID:32424176|PMID:32546565|PMID:32567205|PMID:32792570|PMID:32992294|PMID:33001133|PMID:33193653|PMID:9536098 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:15285897|PMID:15766587|PMID:16199547|PMID:16699561|PMID:17576681|PMID:19966286|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23636398|PMID:24033266|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25079317|PMID:25124163|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26122175|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27720647|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28195393|PMID:28202063|PMID:28218421|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28608266|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29625052|PMID:29641532|PMID:29755653|PMID:29879026|PMID:29987844|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30368636|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30630526|PMID:30640733|PMID:30765821|PMID:30827058|PMID:30917185|PMID:31034466|PMID:31285513|PMID:31308508|PMID:31769227|PMID:31866764|PMID:32169874|PMID:32424176|PMID:32546565|PMID:32567205|PMID:32792570|PMID:32973888|PMID:32992294|PMID:33001133|PMID:33193653|PMID:34347074|PMID:34549727|PMID:9536098 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348983 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:15285897|PMID:15766587|PMID:16199547|PMID:16699561|PMID:17576681|PMID:19966286|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23636398|PMID:24033266|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25079317|PMID:25124163|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26122175|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27720647|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28195393|PMID:28202063|PMID:28218421|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28608266|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29625052|PMID:29641532|PMID:29755653|PMID:29758562|PMID:29879026|PMID:29987844|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30368636|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30630526|PMID:30640733|PMID:30765821|PMID:30827058|PMID:30917185|PMID:31034466|PMID:31285513|PMID:31308508|PMID:31769227|PMID:31866764|PMID:32169874|PMID:32424176|PMID:32546565|PMID:32567205|PMID:32792570|PMID:32973888|PMID:32992294|PMID:33001133|PMID:33193653|PMID:34347074|PMID:34549727|PMID:9536098 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348983 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:15285897|PMID:15766587|PMID:16199547|PMID:16699561|PMID:17576681|PMID:19966286|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23636398|PMID:24033266|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25079317|PMID:25124163|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26122175|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27720647|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28195393|PMID:28202063|PMID:28218421|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28608266|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29625052|PMID:29641532|PMID:29755653|PMID:29758562|PMID:29879026|PMID:29987844|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30368636|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30630526|PMID:30640733|PMID:30765821|PMID:30827058|PMID:30917185|PMID:31034466|PMID:31285513|PMID:31308508|PMID:31360874|PMID:31769227|PMID:31866764|PMID:32169874|PMID:32424176|PMID:32546565|PMID:32567205|PMID:32792570|PMID:32973888|PMID:32992294|PMID:33001133|PMID:33193653|PMID:34347074|PMID:34549727|PMID:9536098 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348983 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:15285897|PMID:15766587|PMID:16199547|PMID:16699561|PMID:17576681|PMID:19966286|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23636398|PMID:24033266|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25079317|PMID:25124163|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26122175|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27720647|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28195393|PMID:28202063|PMID:28218421|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28608266|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29625052|PMID:29641532|PMID:29755653|PMID:29758562|PMID:29879026|PMID:29987844|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30368636|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30630526|PMID:30640733|PMID:30765821|PMID:30827058|PMID:30917185|PMID:31034466|PMID:31285513|PMID:31308508|PMID:31360874|PMID:31769227|PMID:31866764|PMID:32169874|PMID:32424176|PMID:32546565|PMID:32567205|PMID:32792570|PMID:32973888|PMID:32992294|PMID:33001133|PMID:33193653|PMID:34347074|PMID:34549727|PMID:35108036|PMID:9536098 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348983 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:15285897|PMID:15766587|PMID:16199547|PMID:16699561|PMID:17576681|PMID:19966286|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23636398|PMID:24033266|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25079317|PMID:25124163|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26122175|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27720647|PMID:27742654|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28188185|PMID:28195393|PMID:28202063|PMID:28218421|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28608266|PMID:28857155|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29625052|PMID:29641532|PMID:29755653|PMID:29758562|PMID:29879026|PMID:29987015|PMID:29987844|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30368636|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30630526|PMID:30640733|PMID:30765821|PMID:30827058|PMID:30917185|PMID:31034466|PMID:31265121|PMID:31285513|PMID:31308508|PMID:31360874|PMID:31769227|PMID:31780696|PMID:31866764|PMID:31970404|PMID:32169874|PMID:32424176|PMID:32522261|PMID:32546565|PMID:32567205|PMID:32792570|PMID:32885271|PMID:32973888|PMID:32992294|PMID:33001133|PMID:33193653|PMID:34026601|PMID:34326862|PMID:34347074|PMID:34549727|PMID:35108036|PMID:35261896|PMID:35264596|PMID:9536098 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348983 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:15285897|PMID:15766587|PMID:16199547|PMID:16699561|PMID:17576681|PMID:19966286|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:22980975|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23636398|PMID:24033266|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25079317|PMID:25124163|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26122175|PMID:26133394|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27720647|PMID:27742654|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28188185|PMID:28195393|PMID:28202063|PMID:28218421|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28558987|PMID:28608266|PMID:28857155|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29625052|PMID:29641532|PMID:29755653|PMID:29758562|PMID:29879026|PMID:29987844|PMID:30049826|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30368636|PMID:30374176|PMID:30414346|PMID:30448219|PMID:30503519|PMID:30630526|PMID:30640733|PMID:30665374|PMID:30765821|PMID:30827058|PMID:30877237|PMID:30917185|PMID:31034466|PMID:31265121|PMID:31285513|PMID:31308508|PMID:31360874|PMID:31567591|PMID:31769227|PMID:31780696|PMID:31866764|PMID:31942411|PMID:31970404|PMID:32169874|PMID:32424176|PMID:32522261|PMID:32546565|PMID:32567205|PMID:32792570|PMID:32885271|PMID:32973888|PMID:32992294|PMID:33001133|PMID:33193653|PMID:33194656|PMID:33558524|PMID:33821390|PMID:34026601|PMID:3432686|PMID:34326862|PMID:34347074|PMID:34549727|PMID:34749799|PMID:34897210|PMID:35108036|PMID:35261896|PMID:35264596|PMID:35534704|PMID:35624529|PMID:35957908|PMID:36315513|PMID:36627197|PMID:36629684|PMID:36896836|PMID:37088804|PMID:37231433|PMID:37460928|PMID:37833059|PMID:37848928|PMID:37965459|PMID:37990341|PMID:38282550|PMID:38350919|PMID:38874686|PMID:9536098 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9007936 Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature ISO RGD:1348983 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Facial dysmorphism, immunodeficiency, livedo, and short stature PMID:16699561|PMID:17576681|PMID:20091185|PMID:21129811|PMID:21157497|PMID:23230001|PMID:23263490|PMID:23636398|PMID:24033266|PMID:24501277|PMID:25079317|PMID:25370038|PMID:25529843|PMID:25559809|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25948378|PMID:26302956|PMID:26467025|PMID:26822575|PMID:27153395|PMID:27379089|PMID:27683556|PMID:27854218|PMID:28050010|PMID:28125075|PMID:28195393|PMID:28492532|PMID:28873162|PMID:29120461|PMID:29212164|PMID:29338689|PMID:29641532|PMID:29755653|PMID:29758562|PMID:29987844|PMID:30049826|PMID:30194485|PMID:30362666|PMID:30503519|PMID:30827058|PMID:31769227|PMID:32424176|PMID:32546565|PMID:32792570|PMID:33194656|PMID:34326862|PMID:35264596|PMID:35534704|PMID:37990341|PMID:9536098 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9007936 Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature susceptibility ISO RGD:1348983 D RGD:7240710 20250305 OMIM 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9008443 Colorectal Neoplasms ISO RGD:1348983 D RGD:9068941 20250116 CTD CTD Direct Evidence: marker/mechanism PMID:23263490|PMID:26053496 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9008443 Colorectal Neoplasms ISO RGD:1348983 D RGD:9068941 20250116 RGD DNA:missense mutation:CDS, exon9:p.E277G, c.830A (human) PMID:30086056|REF_RGD_ID:151347647 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9008939 Breast Neoplasms ISO RGD:1348983 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast Neoplasms PMID:24844595|PMID:26619011|PMID:28492532 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:1348983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer 1 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12424237|PMID:14760276|PMID:15285897|PMID:15766587|PMID:16199547|PMID:16699561|PMID:16835919|PMID:17067213|PMID:17576681|PMID:19966286|PMID:20084279|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:22980975|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23585368|PMID:23636398|PMID:24033266|PMID:24410847|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25058500|PMID:25079317|PMID:25111073|PMID:25124163|PMID:25188385|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26122175|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26619011|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27701467|PMID:27720647|PMID:27854218|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28188185|PMID:28195393|PMID:28202063|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28558987|PMID:28608266|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29641532|PMID:29755653|PMID:29987844|PMID:30049826|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30368636|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30630526|PMID:30640733|PMID:30677446|PMID:30680046|PMID:30765821|PMID:30827058|PMID:30833958|PMID:30917185|PMID:31285513|PMID:31308508|PMID:31769227|PMID:31829442|PMID:32424176|PMID:32792570|PMID:32885271|PMID:9536098 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:1348983 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12424237|PMID:14760276|PMID:15285897|PMID:15766587|PMID:16699561|PMID:16835919|PMID:17067213|PMID:17576681|PMID:19966286|PMID:20084279|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:22980975|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23585368|PMID:23636398|PMID:24033266|PMID:24410847|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25079317|PMID:25111073|PMID:25124163|PMID:25188385|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26619011|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27701467|PMID:27720647|PMID:27854218|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28188185|PMID:28195393|PMID:28202063|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28558987|PMID:28608266|PMID:28724667|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29625052|PMID:29641532|PMID:29755653|PMID:29987844|PMID:30049826|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30640733|PMID:30677446|PMID:30680046|PMID:30765821|PMID:30827058|PMID:30833958|PMID:30917185|PMID:31285513|PMID:31308508|PMID:31567591|PMID:31673068|PMID:31769227|PMID:31829442|PMID:32424176|PMID:32546565|PMID:32567205|PMID:32705701|PMID:32792570|PMID:32885271|PMID:32992294|PMID:33001133|PMID:33193653|PMID:33558524|PMID:9536098 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:1348983 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 3 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12424237|PMID:14760276|PMID:15285897|PMID:15766587|PMID:16699561|PMID:16835919|PMID:17067213|PMID:17576681|PMID:19966286|PMID:20084279|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:22980975|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23585368|PMID:23636398|PMID:24033266|PMID:24410847|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25079317|PMID:25111073|PMID:25124163|PMID:25188385|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26133394|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26619011|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27701467|PMID:27720647|PMID:27854218|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28188185|PMID:28195393|PMID:28202063|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28558987|PMID:28608266|PMID:28724667|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29625052|PMID:29641532|PMID:29755653|PMID:29879026|PMID:29987844|PMID:30049826|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30640733|PMID:30677446|PMID:30680046|PMID:30765821|PMID:30827058|PMID:30833958|PMID:30917185|PMID:31034466|PMID:31285513|PMID:31308508|PMID:31567591|PMID:31673068|PMID:31769227|PMID:31829442|PMID:31866764|PMID:32169874|PMID:32424176|PMID:32546565|PMID:32567205|PMID:32705701|PMID:32792570|PMID:32885271|PMID:32992294|PMID:33001133|PMID:33193653|PMID:33558524|PMID:9536098 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:1348983 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12424237|PMID:14760276|PMID:15285897|PMID:15766587|PMID:16699561|PMID:16835919|PMID:17067213|PMID:17576681|PMID:19966286|PMID:20084279|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:22980975|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23585368|PMID:23636398|PMID:24033266|PMID:24410847|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25079317|PMID:25111073|PMID:25124163|PMID:25188385|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26133394|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26619011|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27701467|PMID:27720647|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28188185|PMID:28195393|PMID:28202063|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28558987|PMID:28608266|PMID:28724667|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29625052|PMID:29641532|PMID:29755653|PMID:29879026|PMID:29987844|PMID:30049826|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30640733|PMID:30677446|PMID:30680046|PMID:30765821|PMID:30827058|PMID:30833958|PMID:30917185|PMID:31034466|PMID:31285513|PMID:31308508|PMID:31567591|PMID:31673068|PMID:31769227|PMID:31829442|PMID:31866764|PMID:32169874|PMID:32424176|PMID:32546565|PMID:32567205|PMID:32705701|PMID:32792570|PMID:32885271|PMID:32992294|PMID:33001133|PMID:33193653|PMID:33558524|PMID:9536098 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:1348983 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12424237|PMID:14760276|PMID:15285897|PMID:15766587|PMID:16699561|PMID:16835919|PMID:17067213|PMID:17576681|PMID:19966286|PMID:20084279|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:22980975|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23585368|PMID:23636398|PMID:24033266|PMID:24410847|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25079317|PMID:25111073|PMID:25124163|PMID:25188385|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26133394|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26619011|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27701467|PMID:27720647|PMID:27854218|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28188185|PMID:28195393|PMID:28202063|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28558987|PMID:28608266|PMID:28724667|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29625052|PMID:29641532|PMID:29755653|PMID:29879026|PMID:29987844|PMID:30049826|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30640733|PMID:30677446|PMID:30680046|PMID:30765821|PMID:30827058|PMID:30833958|PMID:30917185|PMID:31034466|PMID:31285513|PMID:31308508|PMID:31567591|PMID:31673068|PMID:31769227|PMID:31829442|PMID:31866764|PMID:32169874|PMID:32424176|PMID:32546565|PMID:32567205|PMID:32705701|PMID:32792570|PMID:32885271|PMID:32992294|PMID:33001133|PMID:33193653|PMID:33558524|PMID:34347074|PMID:9536098 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:1348983 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12424237|PMID:14760276|PMID:15285897|PMID:15766587|PMID:16699561|PMID:16835919|PMID:17067213|PMID:17576681|PMID:19966286|PMID:20084279|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:22980975|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23585368|PMID:23636398|PMID:24033266|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25079317|PMID:25111073|PMID:25124163|PMID:25188385|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26133394|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26619011|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27701467|PMID:27720647|PMID:27854218|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28188185|PMID:28195393|PMID:28202063|PMID:28218421|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28558987|PMID:28608266|PMID:28724667|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29625052|PMID:29641532|PMID:29755653|PMID:29879026|PMID:29987844|PMID:30049826|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30640733|PMID:30665374|PMID:30677446|PMID:30680046|PMID:30765821|PMID:30827058|PMID:30833958|PMID:30917185|PMID:31034466|PMID:31285513|PMID:31308508|PMID:31567591|PMID:31673068|PMID:31769227|PMID:31866764|PMID:32169874|PMID:32424176|PMID:32546565|PMID:32567205|PMID:32705701|PMID:32792570|PMID:32885271|PMID:32973888|PMID:32992294|PMID:33001133|PMID:33193653|PMID:33558524|PMID:34347074|PMID:34549727|PMID:9536098 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:1348983 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 3 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12424237|PMID:14760276|PMID:15285897|PMID:15766587|PMID:16699561|PMID:16835919|PMID:17576681|PMID:19966286|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:22980975|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23585368|PMID:23636398|PMID:24033266|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25079317|PMID:25124163|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26133394|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26619011|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27701467|PMID:27720647|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28195393|PMID:28202063|PMID:28218421|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28558987|PMID:28608266|PMID:28724667|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29625052|PMID:29641532|PMID:29755653|PMID:29879026|PMID:29987844|PMID:30049826|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30640733|PMID:30665374|PMID:30677446|PMID:30680046|PMID:30765821|PMID:30827058|PMID:30833958|PMID:30917185|PMID:31034466|PMID:31285513|PMID:31308508|PMID:31567591|PMID:31673068|PMID:31769227|PMID:31866764|PMID:32169874|PMID:32424176|PMID:32546565|PMID:32567205|PMID:32705701|PMID:32792570|PMID:32885271|PMID:32973888|PMID:32992294|PMID:33001133|PMID:33193653|PMID:33558524|PMID:34347074|PMID:34549727|PMID:9536098 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:1348983 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12424237|PMID:14760276|PMID:15285897|PMID:15766587|PMID:16199547|PMID:16699561|PMID:16835919|PMID:17576681|PMID:19966286|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:22980975|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23585368|PMID:23636398|PMID:24033266|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25058500|PMID:25079317|PMID:25124163|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26122175|PMID:26133394|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26619011|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27701467|PMID:27720647|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28195393|PMID:28202063|PMID:28218421|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28558987|PMID:28608266|PMID:28724667|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29625052|PMID:29641532|PMID:29754823|PMID:29755653|PMID:29879026|PMID:29987844|PMID:30049826|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30368636|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30630526|PMID:30640733|PMID:30665374|PMID:30677446|PMID:30680046|PMID:30765821|PMID:30827058|PMID:30833958|PMID:30917185|PMID:31034466|PMID:31285513|PMID:31308508|PMID:31567591|PMID:31769227|PMID:31866764|PMID:32169874|PMID:32424176|PMID:32546565|PMID:32567205|PMID:32705701|PMID:32792570|PMID:32885271|PMID:32973888|PMID:32992294|PMID:33001133|PMID:33193653|PMID:33558524|PMID:34347074|PMID:34549727|PMID:9536098 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:1348983 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12424237|PMID:14760276|PMID:15285897|PMID:15766587|PMID:16199547|PMID:16699561|PMID:16835919|PMID:17576681|PMID:19966286|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:22980975|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23585368|PMID:23636398|PMID:24033266|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25058500|PMID:25079317|PMID:25124163|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26122175|PMID:26133394|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26619011|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27701467|PMID:27720647|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28195393|PMID:28202063|PMID:28218421|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28558987|PMID:28608266|PMID:28724667|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29625052|PMID:29641532|PMID:29754823|PMID:29755653|PMID:29758562|PMID:29879026|PMID:29987844|PMID:30049826|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30368636|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30630526|PMID:30640733|PMID:30665374|PMID:30677446|PMID:30680046|PMID:30765821|PMID:30827058|PMID:30833958|PMID:30917185|PMID:31034466|PMID:31285513|PMID:31308508|PMID:31567591|PMID:31769227|PMID:31866764|PMID:32169874|PMID:32424176|PMID:32546565|PMID:32567205|PMID:32705701|PMID:32792570|PMID:32885271|PMID:32973888|PMID:32992294|PMID:33001133|PMID:33193653|PMID:33558524|PMID:34347074|PMID:34549727|PMID:9536098 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:1348983 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12424237|PMID:14760276|PMID:15285897|PMID:15766587|PMID:16199547|PMID:16699561|PMID:16835919|PMID:17576681|PMID:19966286|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:22980975|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23585368|PMID:23636398|PMID:24033266|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25058500|PMID:25079317|PMID:25124163|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26122175|PMID:26133394|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26619011|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27701467|PMID:27720647|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28195393|PMID:28202063|PMID:28218421|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28558987|PMID:28608266|PMID:28724667|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29625052|PMID:29641532|PMID:29754823|PMID:29755653|PMID:29758562|PMID:29879026|PMID:29987844|PMID:30049826|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30368636|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30630526|PMID:30640733|PMID:30665374|PMID:30677446|PMID:30680046|PMID:30765821|PMID:30827058|PMID:30833958|PMID:30917185|PMID:31034466|PMID:31285513|PMID:31308508|PMID:31360874|PMID:31567591|PMID:31769227|PMID:31866764|PMID:32169874|PMID:32424176|PMID:32546565|PMID:32567205|PMID:32705701|PMID:32792570|PMID:32885271|PMID:32973888|PMID:32992294|PMID:33001133|PMID:33193653|PMID:33558524|PMID:34347074|PMID:34549727|PMID:9536098 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:1348983 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12424237|PMID:14760276|PMID:15285897|PMID:15766587|PMID:16199547|PMID:16699561|PMID:16835919|PMID:17576681|PMID:19966286|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:22980975|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23585368|PMID:23636398|PMID:24033266|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25058500|PMID:25079317|PMID:25124163|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26122175|PMID:26133394|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26619011|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27701467|PMID:27720647|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28195393|PMID:28202063|PMID:28218421|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28558987|PMID:28608266|PMID:28724667|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29625052|PMID:29641532|PMID:29754823|PMID:29755653|PMID:29758562|PMID:29879026|PMID:29987844|PMID:30049826|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30368636|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30630526|PMID:30640733|PMID:30665374|PMID:30677446|PMID:30680046|PMID:30765821|PMID:30827058|PMID:30833958|PMID:30917185|PMID:31034466|PMID:31285513|PMID:31308508|PMID:31360874|PMID:31567591|PMID:31769227|PMID:31866764|PMID:32169874|PMID:32424176|PMID:32546565|PMID:32567205|PMID:32705701|PMID:32792570|PMID:32885271|PMID:32973888|PMID:32992294|PMID:33001133|PMID:33193653|PMID:33558524|PMID:34347074|PMID:34549727|PMID:35108036|PMID:9536098 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:1348983 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12424237|PMID:14760276|PMID:15285897|PMID:15766587|PMID:16199547|PMID:16699561|PMID:16835919|PMID:17576681|PMID:19966286|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:22980975|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23585368|PMID:23636398|PMID:24033266|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25058500|PMID:25079317|PMID:25124163|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26122175|PMID:26133394|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26619011|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27701467|PMID:27720647|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28195393|PMID:28202063|PMID:28218421|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28558987|PMID:28608266|PMID:28724667|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29625052|PMID:29641532|PMID:29754823|PMID:29755653|PMID:29758562|PMID:29879026|PMID:29987844|PMID:30049826|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30368636|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30630526|PMID:30640733|PMID:30665374|PMID:30677446|PMID:30680046|PMID:30765821|PMID:30827058|PMID:30833958|PMID:30917185|PMID:31034466|PMID:31285513|PMID:31308508|PMID:31360874|PMID:31567591|PMID:31769227|PMID:31866764|PMID:32169874|PMID:32424176|PMID:32546565|PMID:32567205|PMID:32705701|PMID:32792570|PMID:32885271|PMID:32973888|PMID:32992294|PMID:33001133|PMID:33193653|PMID:33558524|PMID:34347074|PMID:34549727|PMID:35108036|PMID:35264596|PMID:9536098 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:1348983 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12424237|PMID:14760276|PMID:15285897|PMID:15766587|PMID:16199547|PMID:16699561|PMID:16835919|PMID:17576681|PMID:19966286|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:22980975|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23585368|PMID:23636398|PMID:24033266|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25058500|PMID:25079317|PMID:25124163|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26122175|PMID:26133394|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26619011|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27701467|PMID:27720647|PMID:27884168|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28195393|PMID:28202063|PMID:28218421|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28558987|PMID:28608266|PMID:28724667|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29625052|PMID:29641532|PMID:29754823|PMID:29755653|PMID:29758562|PMID:29879026|PMID:29987844|PMID:30049826|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30368636|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30630526|PMID:30640733|PMID:30665374|PMID:30677446|PMID:30680046|PMID:30765821|PMID:30827058|PMID:30833958|PMID:30917185|PMID:31034466|PMID:31265121|PMID:31285513|PMID:31308508|PMID:31360874|PMID:31567591|PMID:31769227|PMID:31866764|PMID:31970404|PMID:32169874|PMID:32424176|PMID:32522261|PMID:32546565|PMID:32567205|PMID:32705701|PMID:32792570|PMID:32885271|PMID:32973888|PMID:32992294|PMID:33001133|PMID:33193653|PMID:33558524|PMID:34347074|PMID:34549727|PMID:35108036|PMID:35264596|PMID:9536098 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:1348983 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12424237|PMID:14760276|PMID:15285897|PMID:15766587|PMID:16199547|PMID:16699561|PMID:16835919|PMID:17576681|PMID:19966286|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:22980975|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23585368|PMID:23636398|PMID:24033266|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25058500|PMID:25079317|PMID:25124163|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26122175|PMID:26133394|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26619011|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27701467|PMID:27720647|PMID:27854218|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28195393|PMID:28202063|PMID:28218421|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28558987|PMID:28608266|PMID:28724667|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29625052|PMID:29641532|PMID:29754823|PMID:29755653|PMID:29758562|PMID:29879026|PMID:29987844|PMID:30049826|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30368636|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30630526|PMID:30640733|PMID:30665374|PMID:30677446|PMID:30680046|PMID:30765821|PMID:30827058|PMID:30833958|PMID:30917185|PMID:31034466|PMID:31265121|PMID:31285513|PMID:31308508|PMID:31360874|PMID:31567591|PMID:31769227|PMID:31866764|PMID:31970404|PMID:32169874|PMID:32424176|PMID:32522261|PMID:32546565|PMID:32567205|PMID:32705701|PMID:32792570|PMID:32885271|PMID:32973888|PMID:32992294|PMID:33001133|PMID:33193653|PMID:33558524|PMID:34347074|PMID:34549727|PMID:35108036|PMID:35264596|PMID:9536098 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:1348983 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer with chromosomal instability, somatic | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: DLC1-related condition | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12424237|PMID:14760276|PMID:15285897|PMID:15766587|PMID:16199547|PMID:16699561|PMID:16835919|PMID:17576681|PMID:19966286|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:22980975|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23585368|PMID:23636398|PMID:24033266|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25058500|PMID:25079317|PMID:25124163|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26122175|PMID:26133394|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26619011|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27701467|PMID:27720647|PMID:27742654|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28188185|PMID:28195393|PMID:28202063|PMID:28218421|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28558987|PMID:28608266|PMID:28724667|PMID:28857155|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29625052|PMID:29641532|PMID:29754823|PMID:29755653|PMID:29758562|PMID:29879026|PMID:29987015|PMID:29987844|PMID:30049826|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30368636|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30630526|PMID:30640733|PMID:30665374|PMID:30677446|PMID:30680046|PMID:30765821|PMID:30827058|PMID:30833958|PMID:30917185|PMID:31034466|PMID:31265121|PMID:31285513|PMID:31308508|PMID:31360874|PMID:31567591|PMID:31769227|PMID:31780696|PMID:31866764|PMID:31970404|PMID:32169874|PMID:32424176|PMID:32522261|PMID:32546565|PMID:32567205|PMID:32705701|PMID:32792570|PMID:32885271|PMID:32973888|PMID:32992294|PMID:33001133|PMID:33193653|PMID:33558524|PMID:34026601|PMID:34326862|PMID:34347074|PMID:34549727|PMID:35108036|PMID:35261896|PMID:35264596|PMID:9536098 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:1348983 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12424237|PMID:14760276|PMID:15285897|PMID:15766587|PMID:16199547|PMID:16699561|PMID:16835919|PMID:17576681|PMID:19966286|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:22980975|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23585368|PMID:23636398|PMID:24033266|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25058500|PMID:25079317|PMID:25124163|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26122175|PMID:26133394|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26619011|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27701467|PMID:27720647|PMID:27742654|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28188185|PMID:28195393|PMID:28202063|PMID:28218421|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28558987|PMID:28608266|PMID:28724667|PMID:28857155|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29625052|PMID:29641532|PMID:29754823|PMID:29755653|PMID:29758562|PMID:29879026|PMID:29987015|PMID:29987844|PMID:30049826|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30368636|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30630526|PMID:30640733|PMID:30665374|PMID:30677446|PMID:30680046|PMID:30765821|PMID:30827058|PMID:30833958|PMID:30917185|PMID:31034466|PMID:31265121|PMID:31285513|PMID:31308508|PMID:31360874|PMID:31567591|PMID:31769227|PMID:31780696|PMID:31866764|PMID:31970404|PMID:32169874|PMID:32424176|PMID:32522261|PMID:32546565|PMID:32567205|PMID:32705701|PMID:32792570|PMID:32826389|PMID:32885271|PMID:32973888|PMID:32992294|PMID:33001133|PMID:33193653|PMID:33558524|PMID:33821390|PMID:34026601|PMID:3432686|PMID:34326862|PMID:34347074|PMID:34549727|PMID:34897210|PMID:35108036|PMID:35261896|PMID:35264596|PMID:35599849|PMID:35860951|PMID:36315513|PMID:9536098 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:1348983 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: DLC1-related condition | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:16199547|PMID:16699561|PMID:17576681|PMID:19966286|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23636398|PMID:24033266|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24844595|PMID:25058500|PMID:25079317|PMID:25124163|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26133394|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26648449|PMID:26748215|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27379089|PMID:27683556|PMID:27720647|PMID:27742654|PMID:28117753|PMID:28188185|PMID:28195393|PMID:28202063|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28608266|PMID:28857155|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29641532|PMID:29879026|PMID:29987844|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30630526|PMID:30640733|PMID:30665374|PMID:30765821|PMID:30827058|PMID:30917185|PMID:31265121|PMID:31285513|PMID:31866764|PMID:31970404|PMID:32424176|PMID:32522261|PMID:32546565|PMID:32567205|PMID:32792570|PMID:32885271|PMID:32992294|PMID:33193653|PMID:33558524|PMID:33821390|PMID:34326862|PMID:34347074|PMID:34549727|PMID:35264596|PMID:36315513|PMID:9536098 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:1348983 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:16199547|PMID:16699561|PMID:17576681|PMID:19966286|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23636398|PMID:24033266|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24844595|PMID:25058500|PMID:25079317|PMID:25124163|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26133394|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26648449|PMID:26748215|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27379089|PMID:27683556|PMID:27720647|PMID:27742654|PMID:28117753|PMID:28188185|PMID:28195393|PMID:28202063|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28608266|PMID:28776572|PMID:28857155|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29174094|PMID:29194591|PMID:29212164|PMID:29301327|PMID:29320758|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29641532|PMID:29879026|PMID:29987844|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30630526|PMID:30640733|PMID:30665374|PMID:30765821|PMID:30827058|PMID:30917185|PMID:31265121|PMID:31285513|PMID:31866764|PMID:31970404|PMID:32424176|PMID:32522261|PMID:32546565|PMID:32567205|PMID:32792570|PMID:32885271|PMID:32992294|PMID:33193653|PMID:33558524|PMID:33821390|PMID:34326862|PMID:34347074|PMID:34549727|PMID:35264596|PMID:36315513|PMID:9536098 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:1348983 D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:16199547|PMID:16699561|PMID:17576681|PMID:19966286|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23636398|PMID:24033266|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24844595|PMID:25058500|PMID:25079317|PMID:25124163|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26133394|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26648449|PMID:26748215|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27379089|PMID:27683556|PMID:27720647|PMID:27742654|PMID:28117753|PMID:28188185|PMID:28195393|PMID:28202063|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28608266|PMID:28776572|PMID:28857155|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29301327|PMID:29320758|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29641532|PMID:29879026|PMID:29987844|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30630526|PMID:30640733|PMID:30665374|PMID:30765821|PMID:30827058|PMID:30917185|PMID:31265121|PMID:31285513|PMID:31866764|PMID:31970404|PMID:32424176|PMID:32522261|PMID:32546565|PMID:32567205|PMID:32792570|PMID:32885271|PMID:32992294|PMID:33193653|PMID:33558524|PMID:33821390|PMID:34326862|PMID:34347074|PMID:34549727|PMID:35264596|PMID:36315513|PMID:9536098 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:1348983 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: DLC1-related condition | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:16199547|PMID:16699561|PMID:17576681|PMID:19966286|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23636398|PMID:24033266|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24844595|PMID:25058500|PMID:25079317|PMID:25124163|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26133394|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27379089|PMID:27683556|PMID:27720647|PMID:27742654|PMID:28117753|PMID:28188185|PMID:28195393|PMID:28202063|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28608266|PMID:28776572|PMID:28857155|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29301327|PMID:29320758|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29641532|PMID:29879026|PMID:29987844|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30630526|PMID:30640733|PMID:30665374|PMID:30765821|PMID:30827058|PMID:30917185|PMID:31265121|PMID:31285513|PMID:31866764|PMID:31970404|PMID:32424176|PMID:32522261|PMID:32546565|PMID:32567205|PMID:32792570|PMID:32885271|PMID:32992294|PMID:33193653|PMID:33558524|PMID:33821390|PMID:34326862|PMID:34347074|PMID:34549727|PMID:35264596|PMID:36315513|PMID:9536098 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:1348983 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:16199547|PMID:16699561|PMID:17576681|PMID:19966286|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23636398|PMID:24033266|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24844595|PMID:25058500|PMID:25079317|PMID:25124163|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26133394|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27379089|PMID:27683556|PMID:27720647|PMID:27742654|PMID:28117753|PMID:28125075|PMID:28188185|PMID:28195393|PMID:28202063|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28608266|PMID:28776572|PMID:28857155|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29301327|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29641532|PMID:29879026|PMID:29987844|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30374176|PMID:30414346|PMID:30448219|PMID:30503519|PMID:30630526|PMID:30640733|PMID:30665374|PMID:30765821|PMID:30827058|PMID:30877237|PMID:30917185|PMID:31265121|PMID:31285513|PMID:31769227|PMID:31866764|PMID:31970404|PMID:32424176|PMID:32522261|PMID:32546565|PMID:32567205|PMID:32792570|PMID:32885271|PMID:32992294|PMID:33193653|PMID:33194656|PMID:33365374|PMID:33558524|PMID:33821390|PMID:34326862|PMID:34347074|PMID:34549727|PMID:34749799|PMID:35264596|PMID:35624529|PMID:36315513|PMID:37231433|PMID:37460928|PMID:37990341|PMID:38874686|PMID:9536098 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:1348983 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:16199547|PMID:16699561|PMID:17576681|PMID:19966286|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23636398|PMID:24033266|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24844595|PMID:25058500|PMID:25079317|PMID:25124163|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26133394|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27379089|PMID:27683556|PMID:27720647|PMID:27742654|PMID:27854218|PMID:28117753|PMID:28125075|PMID:28188185|PMID:28195393|PMID:28202063|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28608266|PMID:28776572|PMID:28857155|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29301327|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29641532|PMID:29754823|PMID:29879026|PMID:29987844|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30374176|PMID:30414346|PMID:30448219|PMID:30503519|PMID:30630526|PMID:30640733|PMID:30665374|PMID:30765821|PMID:30827058|PMID:30877237|PMID:30917185|PMID:31265121|PMID:31285513|PMID:31769227|PMID:31866764|PMID:31970404|PMID:32424176|PMID:32522261|PMID:32546565|PMID:32567205|PMID:32792570|PMID:32885271|PMID:32992294|PMID:33193653|PMID:33194656|PMID:33558524|PMID:33821390|PMID:34326862|PMID:34347074|PMID:34549727|PMID:34749799|PMID:35264596|PMID:35534704|PMID:35624529|PMID:35957908|PMID:36315513|PMID:36627197|PMID:36629684|PMID:36896836|PMID:37231433|PMID:37460928|PMID:37990341|PMID:38874686|PMID:9536098 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer disease_progression ISO RGD:1348983 D RGD:9068941 20220204 RGD protein:decreased expression:colorectum (human) PMID:32567205|REF_RGD_ID:151347643 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer exacerbates ISO RGD:1348983 D RGD:9068941 20220204 RGD DNA:mutations:multiple (human) PMID:25124163|REF_RGD_ID:151347642 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer onset ISO RGD:1348983 D RGD:9068941 20220224 RGD DNA:mutations:multiple (human) PMID:27244218|REF_RGD_ID:151356953 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer severity ISO RGD:1348983 D RGD:9068941 20220204 RGD DNA:missense mutation:CDS:multiple (human) PMID:32859741|REF_RGD_ID:151347638 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer sexual_dimorphism ISO RGD:1348983 D RGD:9068941 20220204 RGD DNA:missense mutation:CDS, exon 9:p.P286R (human) PMID:27612425|REF_RGD_ID:151347640 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer sexual_dimorphism ISO RGD:1348983 D RGD:9068941 20220204 RGD DNA:missense mutation:CDS:p.L424V (human) PMID:29120461|REF_RGD_ID:151347652 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer susceptibility ISO RGD:1348983 D RGD:7240710 20250305 OMIM 8709530 Tnp1 transition protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8709558 Cd86 CD86 molecule gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:628714 D RGD:9068941 20200609 RGD PMID:10590132|REF_RGD_ID:6902938 8709558 Cd86 CD86 molecule gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1604658 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 8709558 Cd86 CD86 molecule gene DOID:10124 corneal disease ISO RGD:628714 D RGD:9068941 20200609 RGD protein:increased expression:corneal epithelium, Langerhans cell (rat) PMID:19907296|REF_RGD_ID:4892211 8709558 Cd86 CD86 molecule gene DOID:1040 chronic lymphocytic leukemia ISO RGD:1604658 D RGD:9068941 20200609 RGD DNA:hypermethylation (human) PMID:23154584|REF_RGD_ID:11354975 8709558 Cd86 CD86 molecule gene DOID:11123 IgA vasculitis treatment ISO RGD:1604658 D RGD:9068941 20200609 RGD protein:increased expression:venous blood, B cell (human) PMID:27030970|REF_RGD_ID:11354986 8709558 Cd86 CD86 molecule gene DOID:12053 cryptococcosis ISO RGD:734336 D RGD:9068941 20200609 RGD protein:increased expression:lung, dendritic cell (mouse) PMID:16790753|REF_RGD_ID:4892554 8709558 Cd86 CD86 molecule gene DOID:12449 aplastic anemia ISO RGD:1604658 D RGD:9068941 20200609 RGD protein:increased expression:blood, dendritic cell (human) PMID:21234821|REF_RGD_ID:11354968 8709558 Cd86 CD86 molecule gene DOID:12842 Guillain-Barre syndrome ISO RGD:734336 D RGD:9068941 20220825 MouseDO OMIM:139393 8709558 Cd86 CD86 molecule gene DOID:2123 tularemia ISO RGD:734336 D RGD:9068941 20200609 RGD protein:increased expression:lung, dendritic cell (mouse) PMID:16272336|REF_RGD_ID:4892560 8709558 Cd86 CD86 molecule gene DOID:2377 multiple sclerosis susceptibility ISO RGD:1604658 D RGD:9068941 20200609 RGD DNA:snps, haplotypes:exons: G>A, G>C (rs1129055, rs17281995) (human) PMID:26531698|REF_RGD_ID:11354964 8709558 Cd86 CD86 molecule gene DOID:2518 orchitis ISO RGD:628714 D RGD:9068941 20200609 RGD protein:increased expression:testis, macrophage (rat) PMID:18381617|REF_RGD_ID:4892229 8709558 Cd86 CD86 molecule gene DOID:2773 contact dermatitis ISO RGD:1604658 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 8709558 Cd86 CD86 molecule gene DOID:2799 bronchiolitis obliterans ISO RGD:628714 D RGD:9068941 20200609 RGD PMID:11266944|REF_RGD_ID:2307206 8709558 Cd86 CD86 molecule gene DOID:2841 asthma ISO RGD:1604658 D RGD:9068941 20200609 RGD DNA:snp:exon:p.I179V rs2681417 (human) PMID:17513529|REF_RGD_ID:4892280 8709558 Cd86 CD86 molecule gene DOID:2841 asthma ISO RGD:1604658 D RGD:9068941 20200609 RGD protein:increased expression:blood, B cell (human) PMID:9449507|REF_RGD_ID:4892555 8709558 Cd86 CD86 molecule gene DOID:2841 asthma ISO RGD:628714 D RGD:9068941 20200609 RGD protein:increased expression:lung, dendritic cell (rat) PMID:20668438|REF_RGD_ID:4892199 8709558 Cd86 CD86 molecule gene DOID:2841 asthma ISO RGD:734336 D RGD:9068941 20200609 RGD PMID:9551945|REF_RGD_ID:4892202 8709558 Cd86 CD86 molecule gene DOID:2841 asthma ISO RGD:734336 D RGD:9068941 20200609 RGD protein:increased expression:lung, alveolar macrophage (mouse) PMID:20941750|REF_RGD_ID:4892277 8709558 Cd86 CD86 molecule gene DOID:2841 asthma treatment ISO RGD:734336 D RGD:9068941 20200609 RGD PMID:25344652|REF_RGD_ID:11354965 8709558 Cd86 CD86 molecule gene DOID:2917 cryoglobulinemia ISO RGD:1604658 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic;protein:increased expression:peripheral blood, B cell (human) PMID:23840845|REF_RGD_ID:11354974 8709558 Cd86 CD86 molecule gene DOID:2942 bronchiolitis ISO RGD:734336 D RGD:9068941 20200609 RGD protein:decreased expression:myeloid dendritic cell (mouse) PMID:20046053|REF_RGD_ID:4892291 8709558 Cd86 CD86 molecule gene DOID:2957 pulmonary tuberculosis ISO RGD:1604658 D RGD:9068941 20200609 RGD protein:decreased expression:sputum, macrophage (human) PMID:17713660|REF_RGD_ID:4892339 8709558 Cd86 CD86 molecule gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:1604658 D RGD:9068941 20200609 RGD protein:increased expression:lung, myeloid dendritic cell (human) PMID:19729666|REF_RGD_ID:4892292 8709558 Cd86 CD86 molecule gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:1604658 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:g.1057G>A rs1129055 (human) PMID:20732370|REF_RGD_ID:4891504 8709558 Cd86 CD86 molecule gene DOID:3525 middle cerebral artery infarction ISO RGD:628714 D RGD:9068941 20200609 RGD protein:increased expression:brain subventricular zone, microglial cell (rat) PMID:19053043|REF_RGD_ID:2313025 8709558 Cd86 CD86 molecule gene DOID:3770 pulmonary fibrosis ISO RGD:734336 D RGD:9068941 20200609 RGD protein:increased expression:lung, dendritic cell (mouse) PMID:20395561|REF_RGD_ID:4892281 8709558 Cd86 CD86 molecule gene DOID:399 tuberculosis ISO RGD:734336 D RGD:9068941 20200609 RGD protein:increased expression:lung (mouse) PMID:18292558|REF_RGD_ID:4892329 8709558 Cd86 CD86 molecule gene DOID:409 liver disease ISO RGD:1604658 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 8709558 Cd86 CD86 molecule gene DOID:418 systemic scleroderma ISO RGD:1604658 D RGD:9068941 20200609 RGD DNA:snp:5' utr:g.-3479T>G (human) PMID:16790753|REF_RGD_ID:4892554 8709558 Cd86 CD86 molecule gene DOID:6432 pulmonary hypertension ISO RGD:1604658 D RGD:9068941 20200609 RGD protein:decreased expression:blood, myeloid dendritic cell (human) PMID:19693657|REF_RGD_ID:4892293 8709558 Cd86 CD86 molecule gene DOID:841 extrinsic allergic alveolitis ISO RGD:734336 D RGD:9068941 20200609 RGD associated with Paramyxoviridae Infections; protein:increased expression:lung (mouse) PMID:19282343|REF_RGD_ID:4892294 8709558 Cd86 CD86 molecule gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:1604658 D RGD:9068941 20200609 RGD protein:increased expression:peripheral blood mononuclear cell (human) PMID:19379594|REF_RGD_ID:11354966 8709558 Cd86 CD86 molecule gene DOID:8924 autoimmune thrombocytopenic purpura treatment ISO RGD:1604658 D RGD:9068941 20200609 RGD PMID:20581660|REF_RGD_ID:11520785 8709558 Cd86 CD86 molecule gene DOID:9000469 Viral Myocarditis treatment ISO RGD:734336 D RGD:9068941 20200609 RGD PMID:10398149|REF_RGD_ID:13702899 8709558 Cd86 CD86 molecule gene DOID:9000930 Dental Pulp Exposure ISO RGD:628714 D RGD:9068941 20200609 RGD mRNA:increased expression:periodontal ligament (rat) PMID:20113783|REF_RGD_ID:4892210 8709558 Cd86 CD86 molecule gene DOID:9000930 Dental Pulp Exposure ISO RGD:628714 D RGD:9068941 20200609 RGD mRNA:increased expression:thalamus (rat) PMID:20171363|REF_RGD_ID:4892246 8709558 Cd86 CD86 molecule gene DOID:9000965 Neoplasm Metastasis ISO RGD:628714 D RGD:9068941 20200609 RGD mRNA:decreased expression:mediastinal lymph node (rat) PMID:18360875|REF_RGD_ID:4892237 8709558 Cd86 CD86 molecule gene DOID:9001049 Staphylococcal Pneumonia ISO RGD:734336 D RGD:9068941 20200609 RGD protein:decreased expression:spleen, plasmacytoid dendritic cell (mouse) PMID:20949109|REF_RGD_ID:4892562 8709558 Cd86 CD86 molecule gene DOID:9001488 Human Influenza ISO RGD:734336 D RGD:9068941 20200609 RGD protein:increased expression:mediastinal lymph node, B cell (mouse) PMID:19933871|REF_RGD_ID:4892570 8709558 Cd86 CD86 molecule gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1604658 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8709558 Cd86 CD86 molecule gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia severity ISO RGD:1604658 D RGD:9068941 20200609 RGD protein:increased expression:peripheral blood mononuclear cell (human) PMID:25179679|REF_RGD_ID:11354969 8709558 Cd86 CD86 molecule gene DOID:9002283 Experimental Allergic Asthma treatment ISO RGD:734336 D RGD:9068941 20200609 RGD PMID:25344652|REF_RGD_ID:11354965 8709558 Cd86 CD86 molecule gene DOID:9002763 Experimental Autoimmune Encephalomyelitis disease_progression ISO RGD:628714 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord, blood vessel (rat) PMID:20451260|REF_RGD_ID:4892207 8709558 Cd86 CD86 molecule gene DOID:9002763 Experimental Autoimmune Encephalomyelitis resistance ISO RGD:734336 D RGD:9068941 20200609 RGD PMID:10477557|REF_RGD_ID:4892227 8709558 Cd86 CD86 molecule gene DOID:9002869 Schistosomiasis Mansoni ISO RGD:1604658 D RGD:9068941 20200609 RGD protein:increased expression:peripheral blood, eosinophil (human) PMID:17308795|REF_RGD_ID:11354987 8709558 Cd86 CD86 molecule gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:1604658 D RGD:9068941 20200609 RGD protein:increased expression:nasal mucosa, dendritic cell (human) PMID:17088138|REF_RGD_ID:4892343 8709558 Cd86 CD86 molecule gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:734336 D RGD:9068941 20200609 RGD PMID:8993020|REF_RGD_ID:2313930 8709558 Cd86 CD86 molecule gene DOID:9005936 Gastro-Enteropancreatic Neuroendocrine Tumor ISO RGD:1604658 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915428 8709558 Cd86 CD86 molecule gene DOID:9006844 Streptococcal Infections ISO RGD:734336 D RGD:9068941 20200609 RGD associated with Encephalomyelitis, Experimental Autoimmune; protein:increased expression:spleen, dendritic cell (mouse) PMID:16861672|REF_RGD_ID:4892553 8709558 Cd86 CD86 molecule gene DOID:9007730 Burns ISO RGD:628714 D RGD:9068941 20200609 RGD protein:increased expression:spleen, dendritic cell (rat) PMID:20233162|REF_RGD_ID:4892209 8709558 Cd86 CD86 molecule gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1604658 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 8709558 Cd86 CD86 molecule gene DOID:9119 acute myeloid leukemia ISO RGD:734336 D RGD:9068941 20200609 RGD PMID:19197726|REF_RGD_ID:4892295 8709558 Cd86 CD86 molecule gene DOID:9119 acute myeloid leukemia severity ISO RGD:1604658 D RGD:9068941 20200609 RGD protein:increased expression:mononuclear cell of bone marrow (human) PMID:16115907|REF_RGD_ID:11354960 8709558 Cd86 CD86 molecule gene DOID:9270 alkaptonuria ISO RGD:1604658 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 8709558 Cd86 CD86 molecule gene DOID:9538 multiple myeloma ISO RGD:1604658 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16611307 8709558 Cd86 CD86 molecule gene DOID:9538 multiple myeloma severity ISO RGD:1604658 D RGD:9068941 20200609 RGD protein:increased expression:bone marrow, plasma cell (human) PMID:22705596|REF_RGD_ID:11354971 8709558 Cd86 CD86 molecule gene DOID:9744 type 1 diabetes mellitus ISO RGD:1604658 D RGD:9068941 20200609 RGD human gene in mouse model PMID:17947667|REF_RGD_ID:4892258 8709558 Cd86 CD86 molecule gene DOID:9744 type 1 diabetes mellitus ISO RGD:1604658 D RGD:9068941 20200609 RGD protein:decreased expression:dendritic cell PMID:16232222|REF_RGD_ID:2313911 8709558 Cd86 CD86 molecule gene DOID:9744 type 1 diabetes mellitus ISO RGD:1604658 D RGD:9068941 20200609 RGD protein:increased expression:dendritic cell PMID:12742378|REF_RGD_ID:2313920 8709558 Cd86 CD86 molecule gene DOID:9744 type 1 diabetes mellitus ISO RGD:734336 D RGD:9068941 20200609 RGD PMID:15356107|REF_RGD_ID:2313917 8709558 Cd86 CD86 molecule gene DOID:9744 type 1 diabetes mellitus ISO RGD:734336 D RGD:9068941 20200609 RGD protein:decreased expression:macrophage,dendritic cell,T cell PMID:10679081|REF_RGD_ID:2313927 8709558 Cd86 CD86 molecule gene DOID:9744 type 1 diabetes mellitus onset ISO RGD:734336 D RGD:9068941 20200609 RGD protein:decreased expression:dendritic cells PMID:18316361|REF_RGD_ID:2313906 8709558 Cd86 CD86 molecule gene DOID:9952 acute lymphoblastic leukemia severity ISO RGD:1604658 D RGD:9068941 20200609 RGD protein:increased expression:peripheral blood, bone marrow, mononuclear cell (human) PMID:24283754|REF_RGD_ID:11354967 8709568 C4bpb complement component 4 binding protein beta gene DOID:0050589 inflammatory bowel disease ISO RGD:736875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease PMID:28492532 8709568 C4bpb complement component 4 binding protein beta gene DOID:0080600 COVID-19 severity ISO RGD:736875 D RGD:9068941 20200813 RGD DNA:SNP: :rs45574833(human) PMID:32747830|REF_RGD_ID:38500238 8709568 C4bpb complement component 4 binding protein beta gene DOID:0081150 common variable immunodeficiency 7 ISO RGD:736875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 PMID:28492532 8709568 C4bpb complement component 4 binding protein beta gene DOID:12849 autistic disorder ISO RGD:736875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8709568 C4bpb complement component 4 binding protein beta gene DOID:1540 parathyroid carcinoma ISO RGD:736875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8709568 C4bpb complement component 4 binding protein beta gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:736875 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8709568 C4bpb complement component 4 binding protein beta gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8709588 Rabep1 rabaptin, RAB GTPase binding effector protein 1 gene DOID:0111379 fetal akinesia deformation sequence syndrome 4 ISO RGD:1346664 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 4 | ClinVar Annotator: match by term: NUP88-related condition PMID:25741868 8709588 Rabep1 rabaptin, RAB GTPase binding effector protein 1 gene DOID:3307 teratoma ISO RGD:1346664 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 8709626 Nup88 nucleoporin 88 gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:733611 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 8709626 Nup88 nucleoporin 88 gene DOID:0111379 fetal akinesia deformation sequence syndrome 4 ISO RGD:733611 D RGD:7240710 20190515 OMIM 8709626 Nup88 nucleoporin 88 gene DOID:0111379 fetal akinesia deformation sequence syndrome 4 ISO RGD:733611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 4 | ClinVar Annotator: match by term: NUP88-related condition PMID:25741868|PMID:30543681 8709626 Nup88 nucleoporin 88 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:733611 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 8709647 Cdc16 cell division cycle 16 gene DOID:2222 factor X deficiency ISO RGD:1312892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:68450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:25439726|PMID:26922252|PMID:28492532 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:0050543 Charcot-Marie-Tooth disease intermediate type ISO RGD:68450 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Autosomal dominant intermediate Charcot-Marie-Tooth disease PMID:25741868|PMID:28492532|PMID:32376792|PMID:34255403 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:0061060 immunodeficiency 90 ISO RGD:68450 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:0110171 Charcot-Marie-Tooth disease axonal type 2S ISO RGD:68450 D RGD:7240710 20180130 OMIM 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:0110171 Charcot-Marie-Tooth disease axonal type 2S ISO RGD:68450 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2S | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2S | ClinVar Annotator: match by term: IGHMBP2-related condition PMID:11528396|PMID:14506069|PMID:14681881|PMID:15108294|PMID:15287252|PMID:15503272|PMID:15797190|PMID:16199547|PMID:16964485|PMID:17431882|PMID:17576681|PMID:18802676|PMID:19157874|PMID:19158098|PMID:21353777|PMID:21360834|PMID:22157136|PMID:22965130|PMID:23449687|PMID:23566544|PMID:23806086|PMID:24022109|PMID:24033266|PMID:24088041|PMID:25248952|PMID:25280635|PMID:25439726|PMID:2545169|PMID:25454169|PMID:25473036|PMID:25525159|PMID:25568292|PMID:25741868|PMID:26136520|PMID:26257172|PMID:26298607|PMID:26354092|PMID:26392352|PMID:26467025|PMID:26709713|PMID:26752306|PMID:26922252|PMID:27450922|PMID:27727376|PMID:27848944|PMID:28065684|PMID:28251916|PMID:28492532|PMID:28765793|PMID:29431110|PMID:29653221|PMID:29858556|PMID:30598237|PMID:30665247|PMID:30665423|PMID:31020813|PMID:31178897|PMID:32190976|PMID:32376792|PMID:32709422|PMID:33502066|PMID:34190362|PMID:34232518|PMID:34255403|PMID:34602496|PMID:34986626|PMID:35936615|PMID:9536098 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:0111064 autosomal recessive distal hereditary motor neuronopathy 1 ISO RGD:68450 D RGD:7240710 20180130 OMIM 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:0111064 autosomal recessive distal hereditary motor neuronopathy 1 ISO RGD:68450 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 1 | ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 1 | ClinVar Annotator: match by term: Neuronopathy, severe infantile axonal, with respiratory failure | ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, DIAPHRAGMATIC | ClinVar Annotator: match by term: Severe infantile axonal neuropathy with respiratory failure PMID:11528396|PMID:14506069|PMID:14681881|PMID:15108294|PMID:15269181|PMID:15287252|PMID:15503272|PMID:15599641|PMID:15797190|PMID:16199547|PMID:16765827|PMID:16964485|PMID:17431882|PMID:17576681|PMID:18802676|PMID:19157874|PMID:19158098|PMID:20031928|PMID:20859832|PMID:21353777|PMID:21360834|PMID:22157136|PMID:22791546|PMID:22965130|PMID:23449687|PMID:23566544|PMID:23806086|PMID:23929295|PMID:24022109|PMID:24033266|PMID:24088041|PMID:24388491|PMID:25248952|PMID:25280635|PMID:25326635|PMID:25326637|PMID:25439726|PMID:2545169|PMID:25454169|PMID:25473036|PMID:25525159|PMID:25568292|PMID:25640679|PMID:25741868|PMID:26136520|PMID:26257172|PMID:26298607|PMID:26354092|PMID:26392352|PMID:26467025|PMID:26633542|PMID:26709713|PMID:26922252|PMID:27450922|PMID:27727376|PMID:27848944|PMID:28065684|PMID:28202949|PMID:28251916|PMID:28397221|PMID:28403181|PMID:28492532|PMID:28765793|PMID:28902413|PMID:29431110|PMID:29653221|PMID:29761130|PMID:29858556|PMID:30373780|PMID:30409445|PMID:30598237|PMID:30665247|PMID:30665423|PMID:30755392|PMID:30863264|PMID:31019026|PMID:31020813|PMID:31069529|PMID:31178897|PMID:31211173|PMID:32154989|PMID:32190976|PMID:32376792|PMID:32488064|PMID:32573669|PMID:32709422|PMID:33258288|PMID:33369814|PMID:33502066|PMID:34169998|PMID:34190362|PMID:34232518|PMID:34255403|PMID:34539730|PMID:34602496|PMID:34986626|PMID:35660062|PMID:35936615|PMID:36077311|PMID:38772550|PMID:9536098 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:0111198 autosomal dominant distal hereditary motor neuronopathy ISO RGD:68450 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant PMID:11528396|PMID:14681881|PMID:15108294|PMID:15797190|PMID:16199547|PMID:16964485|PMID:17431882|PMID:18802676|PMID:19157874|PMID:19158098|PMID:20859832|PMID:22157136|PMID:22965130|PMID:23449687|PMID:23566544|PMID:23929295|PMID:24022109|PMID:24033266|PMID:24342282|PMID:24388491|PMID:25280635|PMID:25439726|PMID:2545169|PMID:25454169|PMID:25568292|PMID:25741868|PMID:26136520|PMID:26467025|PMID:26709713|PMID:27450922|PMID:28403181|PMID:28492532|PMID:29761130|PMID:30598237|PMID:31020813|PMID:31211173|PMID:36077311|PMID:38772550 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:0111200 autosomal dominant distal hereditary motor neuronopathy 1 ISO RGD:68450 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant 1 PMID:14681881|PMID:25439726|PMID:25568292|PMID:25741868|PMID:28492532 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:1059 intellectual disability ISO RGD:68450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:68450 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy PMID:11528396|PMID:14506069|PMID:14681881|PMID:15108294|PMID:15599641|PMID:15797190|PMID:16964485|PMID:17431882|PMID:17576681|PMID:18802676|PMID:19157874|PMID:20031928|PMID:20859832|PMID:21353777|PMID:22157136|PMID:22791546|PMID:23449687|PMID:23566544|PMID:23806086|PMID:24022109|PMID:24033266|PMID:24088041|PMID:25326635|PMID:25439726|PMID:25568292|PMID:25741868|PMID:26136520|PMID:26257172|PMID:26392352|PMID:26467025|PMID:28492532|PMID:29761130|PMID:30598237|PMID:30863264|PMID:32376792|PMID:32573669|PMID:33258288|PMID:9536098 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:68450 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:11528396|PMID:14506069|PMID:14681881|PMID:15108294|PMID:15599641|PMID:15797190|PMID:16964485|PMID:17431882|PMID:17576681|PMID:18802676|PMID:19157874|PMID:20031928|PMID:20859832|PMID:21353777|PMID:22157136|PMID:22791546|PMID:23449687|PMID:23566544|PMID:23806086|PMID:24022109|PMID:24033266|PMID:24088041|PMID:25326635|PMID:25439726|PMID:25568292|PMID:25741868|PMID:26136520|PMID:26257172|PMID:26392352|PMID:26467025|PMID:26709713|PMID:27727376|PMID:28251916|PMID:28492532|PMID:28765793|PMID:29761130|PMID:30598237|PMID:30863264|PMID:32376792|PMID:32573669|PMID:33258288|PMID:9536098 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:68450 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:11528396|PMID:14506069|PMID:14681881|PMID:15108294|PMID:15599641|PMID:15797190|PMID:16964485|PMID:17431882|PMID:17576681|PMID:18802676|PMID:19157874|PMID:19158098|PMID:20031928|PMID:20859832|PMID:21353777|PMID:22157136|PMID:22791546|PMID:23449687|PMID:23566544|PMID:23806086|PMID:24022109|PMID:24033266|PMID:24088041|PMID:25326635|PMID:25439726|PMID:25473036|PMID:25568292|PMID:25741868|PMID:25741915|PMID:26136520|PMID:26257172|PMID:26392352|PMID:26467025|PMID:26709713|PMID:26922252|PMID:27727376|PMID:28251916|PMID:28492532|PMID:28765793|PMID:29761130|PMID:29858556|PMID:30598237|PMID:30863264|PMID:32376792|PMID:32573669|PMID:32709422|PMID:33258288|PMID:9536098 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:68450 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:11528396|PMID:14506069|PMID:14681881|PMID:15108294|PMID:15599641|PMID:15797190|PMID:16964485|PMID:17431882|PMID:17576681|PMID:18802676|PMID:19157874|PMID:19158098|PMID:20031928|PMID:20859832|PMID:21353777|PMID:22157136|PMID:22791546|PMID:23449687|PMID:23566544|PMID:23806086|PMID:24022109|PMID:24033266|PMID:24088041|PMID:25326635|PMID:25439726|PMID:25473036|PMID:25568292|PMID:25741868|PMID:26136520|PMID:26257172|PMID:26392352|PMID:26467025|PMID:26709713|PMID:26922252|PMID:27727376|PMID:28251916|PMID:28492532|PMID:28765793|PMID:29761130|PMID:29858556|PMID:30598237|PMID:30863264|PMID:32376792|PMID:32573669|PMID:32709422|PMID:33258288|PMID:9536098 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:68450 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia | ClinVar Annotator: match by term: Peroneal muscular atrophy PMID:11528396|PMID:14506069|PMID:14681881|PMID:15108294|PMID:15287252|PMID:15599641|PMID:15797190|PMID:16964485|PMID:17431882|PMID:17576681|PMID:18802676|PMID:19157874|PMID:19158098|PMID:20031928|PMID:20859832|PMID:21353777|PMID:22157136|PMID:22791546|PMID:23449687|PMID:23566544|PMID:23806086|PMID:24022109|PMID:24033266|PMID:24088041|PMID:25248952|PMID:25326635|PMID:25439726|PMID:25473036|PMID:25525159|PMID:25568292|PMID:25741868|PMID:26136520|PMID:26257172|PMID:26298607|PMID:26354092|PMID:26392352|PMID:26467025|PMID:26709713|PMID:26922252|PMID:27727376|PMID:28251916|PMID:28492532|PMID:28765793|PMID:29431110|PMID:29761130|PMID:29858556|PMID:30598237|PMID:30863264|PMID:32376792|PMID:32573669|PMID:32709422|PMID:33258288|PMID:35936615|PMID:9536098 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:68450 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:11528396|PMID:14506069|PMID:14681881|PMID:15108294|PMID:15287252|PMID:15599641|PMID:15797190|PMID:16964485|PMID:17431882|PMID:17576681|PMID:18802676|PMID:19157874|PMID:19158098|PMID:20031928|PMID:20859832|PMID:21353777|PMID:22157136|PMID:22791546|PMID:23449687|PMID:23566544|PMID:23806086|PMID:24022109|PMID:24033266|PMID:24088041|PMID:25248952|PMID:25326635|PMID:25439726|PMID:25473036|PMID:25525159|PMID:25568292|PMID:25741868|PMID:26136520|PMID:26257172|PMID:26298607|PMID:26354092|PMID:26392352|PMID:26467025|PMID:26709713|PMID:26922252|PMID:27727376|PMID:28251916|PMID:28492532|PMID:28765793|PMID:29431110|PMID:29761130|PMID:29858556|PMID:30598237|PMID:30863264|PMID:31019026|PMID:32376792|PMID:32573669|PMID:32709422|PMID:33258288|PMID:34255403|PMID:35936615|PMID:38772550|PMID:9536098 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:12377 spinal muscular atrophy ISO RGD:68450 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy | ClinVar Annotator: match by term: Spinal muscular atrophy PMID:14506069|PMID:14681881|PMID:15108294|PMID:15290238|PMID:16199547|PMID:16765827|PMID:16964485|PMID:17431882|PMID:18802676|PMID:19158098|PMID:21353777|PMID:22157136|PMID:22965130|PMID:23566544|PMID:24033266|PMID:24388491|PMID:25326635|PMID:25439726|PMID:25473036|PMID:25568292|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26922252|PMID:27848944|PMID:28065684|PMID:28397221|PMID:28492532|PMID:30409445|PMID:31178897|PMID:32376792|PMID:33502066|PMID:34986626 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:574 peripheral nervous system disease ISO RGD:68450 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:11528396|PMID:14681881|PMID:16199547|PMID:16765827|PMID:22157136|PMID:23566544|PMID:25439726|PMID:25568292|PMID:25741868|PMID:26392352|PMID:27450922|PMID:28492532|PMID:30598237 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:630 genetic disease ISO RGD:68450 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11528396|PMID:14506069|PMID:14681881|PMID:15108294|PMID:15287252|PMID:15503272|PMID:16964485|PMID:17431882|PMID:17576681|PMID:18802676|PMID:19157874|PMID:19158098|PMID:21353777|PMID:22157136|PMID:22965130|PMID:23449687|PMID:23566544|PMID:23806086|PMID:24022109|PMID:24088041|PMID:24388491|PMID:25248952|PMID:25280635|PMID:25439726|PMID:2545169|PMID:25454169|PMID:25525159|PMID:25568292|PMID:25741868|PMID:26136520|PMID:26257172|PMID:26298607|PMID:26354092|PMID:26392352|PMID:26467025|PMID:26709713|PMID:26752306|PMID:26922252|PMID:27450922|PMID:27727376|PMID:28251916|PMID:28403181|PMID:28492532|PMID:28765793|PMID:28902413|PMID:29431110|PMID:30373780|PMID:30409445|PMID:30598237|PMID:30665247|PMID:30665423|PMID:31020813|PMID:31178897|PMID:32376792|PMID:33258288|PMID:33369814|PMID:34232518|PMID:34602496|PMID:34986626|PMID:9536098 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:870 neuropathy ISO RGD:68450 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:11528396|PMID:14681881|PMID:16199547|PMID:16765827|PMID:22157136|PMID:23566544|PMID:25439726|PMID:25568292|PMID:25741868|PMID:26392352|PMID:27450922|PMID:28492532|PMID:30598237 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:68450 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:14506069|PMID:14681881|PMID:15108294|PMID:15287252|PMID:19157874|PMID:23449687|PMID:23806086|PMID:24088041|PMID:25248952|PMID:25439726|PMID:25525159|PMID:25568292|PMID:25741868|PMID:26257172|PMID:26298607|PMID:26354092|PMID:26709713|PMID:26922252|PMID:28492532|PMID:28765793|PMID:29431110|PMID:30598237 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:9005219 Abnormal Reflexes ISO RGD:68450 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hyperreflexia PMID:14681881|PMID:25326637|PMID:25439726|PMID:25568292|PMID:25741868|PMID:28492532 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:9005532 Muscle Weakness ISO RGD:68450 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Progressive muscle weakness PMID:14506069|PMID:14681881|PMID:25439726|PMID:25568292|PMID:25741868|PMID:28492532 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:9007114 Mobility Limitation ISO RGD:68450 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Difficulty walking PMID:14506069|PMID:14681881|PMID:25439726|PMID:25568292|PMID:25741868|PMID:28492532 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:68450 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8709690 Kdm5b lysine demethylase 5B gene DOID:0060041 autism spectrum disorder ISO RGD:1322449 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder | ClinVar Annotator: match by term: Autism spectrum disorders PMID:25741868 8709690 Kdm5b lysine demethylase 5B gene DOID:0080173 bladder exstrophy-epispadias-cloacal exstrophy complex ISO RGD:1322449 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex PMID:25741868 8709690 Kdm5b lysine demethylase 5B gene DOID:0081226 autosomal recessive intellectual developmental disorder 65 ISO RGD:1322449 D RGD:7240710 20190315 OMIM 8709690 Kdm5b lysine demethylase 5B gene DOID:0081226 autosomal recessive intellectual developmental disorder 65 ISO RGD:1322449 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 65 | ClinVar Annotator: match by term: KDM5B-related condition | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65 PMID:25363768|PMID:25741868|PMID:28492532|PMID:29276005|PMID:30217758|PMID:30409806|PMID:32368696 8709690 Kdm5b lysine demethylase 5B gene DOID:0081277 diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype ISO RGD:1322449 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype PMID:25741868 8709690 Kdm5b lysine demethylase 5B gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1322449 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 8709690 Kdm5b lysine demethylase 5B gene DOID:10283 prostate cancer severity ISO RGD:1322449 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate gland (human) PMID:18048344|REF_RGD_ID:9587744 8709690 Kdm5b lysine demethylase 5B gene DOID:1059 intellectual disability ISO RGD:1322449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: intellectual disabilities 8709690 Kdm5b lysine demethylase 5B gene DOID:11054 urinary bladder cancer ISO RGD:1322449 D RGD:9068941 20200609 RGD mRNA:increased expression:urinary bladder (human) PMID:20226085|REF_RGD_ID:9587778 8709690 Kdm5b lysine demethylase 5B gene DOID:1540 parathyroid carcinoma ISO RGD:1322449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8709690 Kdm5b lysine demethylase 5B gene DOID:1612 breast cancer treatment ISO RGD:1322449 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:21369698|REF_RGD_ID:9587774 8709690 Kdm5b lysine demethylase 5B gene DOID:3070 high grade glioma ISO RGD:1322449 D RGD:9068941 20200609 RGD PMID:25450384|REF_RGD_ID:13702126 8709690 Kdm5b lysine demethylase 5B gene DOID:3070 high grade glioma disease_progression ISO RGD:1322449 D RGD:9068941 20200609 RGD PMID:25450384|REF_RGD_ID:13702126 8709690 Kdm5b lysine demethylase 5B gene DOID:3748 esophagus squamous cell carcinoma severity ISO RGD:1322449 D RGD:9068941 20200609 RGD protein:increased expression:esophageal mucosa, cytoplasm (human) PMID:22534467|REF_RGD_ID:9587776 8709690 Kdm5b lysine demethylase 5B gene DOID:5844 myocardial infarction ameliorates ISO RGD:1557118 D RGD:9068941 20230624 RGD PMID:36481938|REF_RGD_ID:329901769 8709690 Kdm5b lysine demethylase 5B gene DOID:6039 uveal melanoma severity ISO RGD:1322449 D RGD:9068941 20200609 RGD protein:increased expression:uvea (human) PMID:22669717|REF_RGD_ID:9587775 8709690 Kdm5b lysine demethylase 5B gene DOID:630 genetic disease ISO RGD:1322449 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:32368696 8709690 Kdm5b lysine demethylase 5B gene DOID:6432 pulmonary hypertension ISO RGD:1557118 D RGD:9068941 20230713 RGD associated with Hypoxia;protein:increased expression:pulmonary artery,smooth muscle tissue (mouse) PMID:30172777|REF_RGD_ID:329955443 8709690 Kdm5b lysine demethylase 5B gene DOID:9002928 Colonic Neoplasms ISO RGD:1322449 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25043185 8709690 Kdm5b lysine demethylase 5B gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1322449 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8709690 Kdm5b lysine demethylase 5B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322449 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:29276005|PMID:30217758|PMID:30409806 8709690 Kdm5b lysine demethylase 5B gene DOID:9008443 Colorectal Neoplasms severity ISO RGD:1322449 D RGD:9068941 20200609 RGD PMID:23354547|REF_RGD_ID:9587777 8709690 Kdm5b lysine demethylase 5B gene DOID:9008582 Developmental Disease ISO RGD:1322449 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8709690 Kdm5b lysine demethylase 5B gene DOID:9008939 Breast Neoplasms severity ISO RGD:1322449 D RGD:9068941 20200609 RGD mRNA:increased expression:breast (human) PMID:10336460|REF_RGD_ID:9587743 8709690 Kdm5b lysine demethylase 5B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1322449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8709724 Gpr12 G protein-coupled receptor 12 gene DOID:9970 obesity ISO RGD:68466 D RGD:9068941 20220825 MouseDO OMIM:601665 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:0050589 inflammatory bowel disease ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28067908 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:0050589 inflammatory bowel disease ISO RGD:69659 D RGD:9068941 20200609 RGD PMID:15638228|REF_RGD_ID:1625756 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:0050745 diffuse large B-cell lymphoma disease_progression ISO RGD:69659 D RGD:9068941 20200609 RGD proteion:increased expression:serum: PMID:12598355|REF_RGD_ID:11354982 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:0050848 obstructive sleep apnea ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased secretion:plasma (human) PMID:20004360|REF_RGD_ID:4145463 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:7686390|REF_RGD_ID:11520780 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:0060180 colitis ISO RGD:2857 D RGD:9068941 20200609 RGD protein:increased expression:colon: PMID:22261574|REF_RGD_ID:7207796 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:0080547 metabolic dysfunction-associated steatohepatitis ISO RGD:69659 D RGD:9068941 20240801 RGD protein:increased expression:blood serum (human) PMID:21635548|REF_RGD_ID:407420270 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:2857 D RGD:9068941 20200609 RGD protein:increased expression:pancreas, lung (rat) PMID:20950211|REF_RGD_ID:4145335 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:0081120 Graves ophthalmopathy ISO RGD:69659 D RGD:9068941 20200609 RGD DNA:polymorphism: :c.1405A>G (human) PMID:14557478|REF_RGD_ID:8158124 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:0081267 graft-versus-host disease ISO RGD:10756 D RGD:9068941 20200609 RGD protein:increased expression:liver,bile duct: PMID:10051478|REF_RGD_ID:11520783 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:0081292 traumatic brain injury ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28642177 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:0111151 Prinzmetal angina ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:9415270|REF_RGD_ID:8547713 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:0111989 immunodeficiency 35 ISO RGD:69659 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Immunodeficiency 35 PMID:22402565|PMID:26304966|PMID:28492532 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:10128 venous insufficiency susceptibility ISO RGD:69659 D RGD:9068941 20200609 RGD associated with Venous Thrombosis; PMID:25495610|REF_RGD_ID:11054206 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:10247 pleurisy ISO RGD:10756 D RGD:9068941 20200609 RGD protein:increased expression:bronchial epithelium (mouse) PMID:19056932|REF_RGD_ID:4145519 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:10247 pleurisy ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11181422 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:10247 pleurisy ISO RGD:69659 D RGD:9068941 20200609 RGD associated with Tuberculosis; protein:increased expression:pleural fluid, natural killer cell (human) PMID:19714575|REF_RGD_ID:4145510 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:10283 prostate cancer ISO RGD:69659 D RGD:9068941 20200609 RGD PMID:19536890|REF_RGD_ID:4145511 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:10591 pre-eclampsia treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:21830843|REF_RGD_ID:8547718 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:10652 Alzheimer's disease ISO RGD:69659 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.K469E (human) PMID:12498973|REF_RGD_ID:1358664 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:10754 otitis media ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20926702|REF_RGD_ID:8547580 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:10763 hypertension ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12149661|PMID:12425201 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:10763 hypertension ISO RGD:69659 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:serum PMID:18619052|REF_RGD_ID:2312765 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:10952 nephritis treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:8773354|REF_RGD_ID:8547716 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:10964 cholesteatoma of middle ear ISO RGD:69659 D RGD:9068941 20200609 RGD PMID:8562031|REF_RGD_ID:8547586 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:11054 urinary bladder cancer ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:7686390|REF_RGD_ID:11520780 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:11204 allergic conjunctivitis ISO RGD:69659 D RGD:9068941 20200609 RGD PMID:8766745|REF_RGD_ID:8547686 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:11263 chlamydia ISO RGD:10756 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (mouse) PMID:19728926|REF_RGD_ID:4145507 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:11394 adult respiratory distress syndrome severity ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased secretion:plasma (human) PMID:19858233|REF_RGD_ID:4145485 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:11446 sciatic neuropathy ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:20546684|REF_RGD_ID:8547739 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:11713 diabetic angiopathy ISO RGD:10756 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA:increased expression:aorta PMID:18093596|REF_RGD_ID:2306988 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:11713 diabetic angiopathy ISO RGD:2857 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:18796303|REF_RGD_ID:2313473 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:11714 gestational diabetes ISO RGD:69659 D RGD:9068941 20200609 RGD protein:decreased expression:placenta PMID:19343356|REF_RGD_ID:2313469 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:11714 gestational diabetes ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:decidua, endothelial cell PMID:17990298|REF_RGD_ID:2313476 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:2857 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression:heart left ventricle (rat) PMID:20601373|REF_RGD_ID:4145536 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:1205 allergic disease ISO RGD:69659 D RGD:9068941 20200609 RGD PMID:7524984|REF_RGD_ID:8158114 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:1205 allergic disease ISO RGD:69659 D RGD:9068941 20200609 RGD associated with Giardiasis;protein:increased expression:serum PMID:15587302|REF_RGD_ID:8547689 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:12236 primary biliary cholangitis ISO RGD:69659 D RGD:9068941 20250116 RGD protein:increased expression:serum: PMID:11280567|REF_RGD_ID:597000690 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:12236 primary biliary cholangitis treatment ISO RGD:10756 D RGD:9068941 20200609 RGD associated with Graft vs Host Disease; PMID:10051478|REF_RGD_ID:11520783 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:12351 alcoholic hepatitis severity ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:hepatocyte PMID:1347281|REF_RGD_ID:14402038 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:12361 Graves' disease ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:blood, lymphocyte PMID:12357047|REF_RGD_ID:8158121 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:12361 Graves' disease no_association ISO RGD:69659 D RGD:9068941 20200609 RGD DNA:SNP: :p.K469E (rs5498) (human) PMID:17873320|REF_RGD_ID:8547702 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:12361 Graves' disease onset ISO RGD:69659 D RGD:9068941 20200609 RGD DNA:polymorphism: :c.721G>A (human) PMID:14557478|REF_RGD_ID:8158124 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:12365 malaria ISO RGD:69659 D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: ICAM1-related condition | ClinVar Annotator: match by term: Malaria, cerebral, susceptibility to | ClinVar Annotator: match by term: Malaria, susceptibility to PMID:10417733|PMID:10699175|PMID:23609612|PMID:25741868|PMID:28492532|PMID:9259284|PMID:9861406 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:12365 malaria susceptibility ISO RGD:69659 D RGD:7240710 20190502 OMIM 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:12662 paracoccidioidomycosis ISO RGD:10756 D RGD:9068941 20200609 RGD PMID:17003484|REF_RGD_ID:8547589 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:12716 newborn respiratory distress syndrome ISO RGD:10756 D RGD:9068941 20200609 RGD protein:increased expression:lung (mouse) PMID:20888423|REF_RGD_ID:4145440 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:12716 newborn respiratory distress syndrome ISO RGD:2857 D RGD:9068941 20200609 RGD associated with Reperfusion Injury; mRNA, protein:increased expression:lung (rat) PMID:19837405|REF_RGD_ID:4145493 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17425601 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased secretion:nasopharynx PMID:20209309|REF_RGD_ID:4140425 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:1287 cardiovascular system disease ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16332659|PMID:25575156 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:12894 Sjogren's syndrome ISO RGD:10756 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:15037117|REF_RGD_ID:8547696 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:12894 Sjogren's syndrome ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:salivary gland PMID:11359451|REF_RGD_ID:8158122 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:12894 Sjogren's syndrome treatment ISO RGD:10756 D RGD:9068941 20200609 RGD PMID:21589878|REF_RGD_ID:8547705 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:12986 leukostasis ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10485912 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:13025 retinopathy of prematurity ISO RGD:2857 D RGD:9068941 20200609 RGD mRNA:increased expression:retina (rat) PMID:20368504|REF_RGD_ID:4145427 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:13141 uveitis ISO RGD:69659 D RGD:9068941 20200609 RGD protein:altered expression:serum, vitreous humor PMID:9640197|REF_RGD_ID:8547585 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:13141 uveitis treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:7641842|REF_RGD_ID:8158119 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:13166 allergic bronchopulmonary aspergillosis ISO RGD:10756 D RGD:9068941 20200609 RGD PMID:7743671|REF_RGD_ID:8547590 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:13241 Behcet's disease ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12074830|PMID:8712863 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:13241 Behcet's disease ISO RGD:69659 D RGD:9068941 20200609 RGD DNA:SNP:exon:p.R241G (human) PMID:11409120|REF_RGD_ID:8547575 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:13241 Behcet's disease no_association ISO RGD:69659 D RGD:9068941 20200609 RGD DNA:SNP:exon:p.R241G (human) PMID:10792421|REF_RGD_ID:8158123 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:13241 Behcet's disease susceptibility ISO RGD:69659 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.K469E (human) PMID:12808331|REF_RGD_ID:8158115 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:13252 mesenteric vascular occlusion treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:7858885|REF_RGD_ID:11522711 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:13580 cholestasis ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21224055 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:13608 biliary atresia susceptibility ISO RGD:69659 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.G241R (human) PMID:18401716|REF_RGD_ID:14402043 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:13810 familial hypercholesterolemia ISO RGD:69659 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia PMID:20809525|PMID:21382890|PMID:28492532|PMID:28645073 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:1555 urticaria ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12121561 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:1586 rheumatic fever ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:14567831|REF_RGD_ID:13702910 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:1612 breast cancer ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:7686390|REF_RGD_ID:11520780 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:1793 pancreatic cancer ISO RGD:69659 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:pancreas PMID:11815996|REF_RGD_ID:2325165 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:1909 melanoma disease_progression ISO RGD:69659 D RGD:9068941 20200609 RGD PMID:8599446|REF_RGD_ID:8547584 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:1936 atherosclerosis ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12677255 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:224 transient cerebral ischemia treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:22379785|REF_RGD_ID:8547729 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:2316 brain ischemia ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17394460|PMID:19417757 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:2349 arteriosclerosis ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28569748 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:2377 multiple sclerosis ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20175758 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:2394 ovarian cancer ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:7686390|REF_RGD_ID:11520780 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:2527 nephrosis ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12845231 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:2723 dermatitis treatment ISO RGD:10756 D RGD:9068941 20200609 RGD PMID:9366707|REF_RGD_ID:8547708 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:2773 contact dermatitis ISO RGD:10756 D RGD:9068941 20200609 RGD PMID:20182448|REF_RGD_ID:5685684 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:2797 idiopathic interstitial pneumonia ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:lung, alveolar macrophage (human) PMID:19218648|REF_RGD_ID:4145518 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:2841 asthma ISO RGD:10756 D RGD:9068941 20200609 RGD mRNA:increased expression:aorta (mouse) PMID:20400685|REF_RGD_ID:4145444 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:2841 asthma ISO RGD:2857 D RGD:9068941 20200609 RGD protein:increased expression:lung, serum (rat) PMID:20953388|REF_RGD_ID:4145331 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:2841 asthma ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17014439|PMID:25003170 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:2841 asthma ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased secretion:lung (human) PMID:20205697|REF_RGD_ID:4145509 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:3021 acute kidney failure treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:22659586|REF_RGD_ID:7175102 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:10756 D RGD:9068941 20200609 RGD protein:decreased expression:airway epithelium (mouse) PMID:18794286|REF_RGD_ID:4145522 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29329563 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:69659 D RGD:9068941 20200609 RGD mRNA:increased expression:airway epithelial cell (human) PMID:20395558|REF_RGD_ID:4145446 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:3454 brain infarction ISO RGD:69659 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:serum PMID:18692933|REF_RGD_ID:2313474 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:3525 middle cerebral artery infarction ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12374626 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:3526 cerebral infarction ISO RGD:2857 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cerebral cortex PMID:20083630|REF_RGD_ID:8547724 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:3770 pulmonary fibrosis ISO RGD:2857 D RGD:9068941 20200609 RGD protein:increased expression:lung (rat) PMID:19254480|REF_RGD_ID:4145516 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:3904 bronchus carcinoma ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased secretion:lung (human) PMID:18764914|REF_RGD_ID:4145523 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:69659 D RGD:9068941 20200609 RGD progression-free survival; protein:increased secretion:serum (human) PMID:19949019|REF_RGD_ID:4145465 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:418 systemic scleroderma ISO RGD:69659 D RGD:9068941 20200609 RGD PMID:1371389|PMID:18759276|REF_RGD_ID:8158120|REF_RGD_ID:8547576 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:418 systemic scleroderma disease_progression ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:8099861|REF_RGD_ID:8547587 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:4195 hyperglycemia ISO RGD:2857 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; protein:increased expression:cerebral cortex, pyramidal layer (rat) PMID:20495289|REF_RGD_ID:4145407 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:4676 uremia ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17347482 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:4724 brain edema ISO RGD:2857 D RGD:9068941 20200609 RGD associated with Reperfusion Injury; protein:increased expression:brain (rat) PMID:20570121|REF_RGD_ID:4145390 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:4989 pancreatitis ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:12923961|REF_RGD_ID:2325163 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:4989 pancreatitis treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:23125085|REF_RGD_ID:8547728 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:5082 liver cirrhosis ISO RGD:2857 D RGD:9068941 20240125 RGD associated with chronic intermittent hypoxia; mRNA, protein:increased expression:liver (rat) PMID:32626927|REF_RGD_ID:401959337 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:5082 liver cirrhosis susceptibility ISO RGD:69659 D RGD:9068941 20200609 RGD associated with Hepatitis B, Chronic;DNA:missense mutations, haplotype:cds:p.G241R, p.K469E (human) PMID:18233990|REF_RGD_ID:14402042 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:5199 ureteral obstruction ISO RGD:2857 D RGD:9068941 20200609 RGD protein:increased expression:renal endothelium, epithelium, interstitium PMID:10930117|REF_RGD_ID:11522713 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:552 pneumonia treatment ISO RGD:2857 D RGD:9068941 20200609 RGD associated with Reperfusion Injury PMID:22882462|REF_RGD_ID:8547727 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:5679 retinal disease ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19324842 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:574 peripheral nervous system disease ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21245421 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:576 proteinuria ISO RGD:2857 D RGD:9068941 20200609 RGD associated with Hypertension;mRNA, protein:increased expression:kidney PMID:22681549|REF_RGD_ID:8547734 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:5844 myocardial infarction ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10070497 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:5844 myocardial infarction treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:23139358|REF_RGD_ID:8547733 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:6432 pulmonary hypertension ISO RGD:69659 D RGD:9068941 20200609 RGD associated with Heart Defects, Congenital;protein:increased secretion:serum (human) PMID:21034646|REF_RGD_ID:4145436 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:26109813|REF_RGD_ID:11056752 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:783 end stage renal disease ISO RGD:2857 D RGD:9068941 20200609 RGD protein:increased expression:kidney (rat) PMID:20820841|REF_RGD_ID:4145364 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:820 myocarditis ISO RGD:10756 D RGD:9068941 20200609 RGD PMID:22268115|REF_RGD_ID:13702908 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:820 myocarditis ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:9556870|REF_RGD_ID:13702915 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:8472 localized scleroderma ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:7916356|REF_RGD_ID:8158116 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:8481 rheumatic myocarditis severity ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:22987107|REF_RGD_ID:13702907 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:8506 bullous pemphigoid ISO RGD:69659 D RGD:9068941 20200609 RGD PMID:1377725|REF_RGD_ID:8547591 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:8549 chronic ulcer of skin ISO RGD:69659 D RGD:9068941 20200609 RGD associated with Scleroderma, Systemic;protein:increased expression:blood PMID:8099861|REF_RGD_ID:8547587 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:8567 Hodgkin's lymphoma ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7621881|PMID:8656679 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:8567 Hodgkin's lymphoma ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:7686390|REF_RGD_ID:11520780 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:8577 ulcerative colitis ISO RGD:2857 D RGD:9068941 20200609 RGD mRNA:increased expression:substantia nigra (rat) PMID:20584104|REF_RGD_ID:4145388 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:8577 ulcerative colitis ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15553846 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:874 bacterial pneumonia ISO RGD:10756 D RGD:9068941 20200609 RGD protein:increased expression:lung (mouse) PMID:19846873|REF_RGD_ID:4145490 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:8778 Crohn's disease ISO RGD:69659 D RGD:9068941 20200609 RGD PMID:15638228|REF_RGD_ID:1625756 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:8893 psoriasis severity ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:8094011|REF_RGD_ID:8547688 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:8893 psoriasis treatment ISO RGD:69659 D RGD:9068941 20200609 RGD PMID:16181457|PMID:2015706|REF_RGD_ID:8158118|REF_RGD_ID:8547579 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:8923 skin melanoma disease_progression ISO RGD:69659 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.R241G (human) PMID:16313300|REF_RGD_ID:8547698 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:8947 diabetic retinopathy ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10485912 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:8947 diabetic retinopathy ISO RGD:69659 D RGD:9068941 20200609 RGD PMID:18834676|REF_RGD_ID:2313472 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:8947 diabetic retinopathy ISO RGD:69659 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :p.K469E (human) PMID:18942221|REF_RGD_ID:2313471 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:8947 diabetic retinopathy treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:25066112|REF_RGD_ID:11354984 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:8627308|REF_RGD_ID:11522712 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:69659 D RGD:9068941 20200609 RGD associated with Breast Neoplasms PMID:21590495|REF_RGD_ID:8547712 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9000099 Experimental Colitis treatment ISO RGD:2857 D RGD:9068941 20220623 RGD PMID:10092309|PMID:29572553|REF_RGD_ID:11522714|REF_RGD_ID:152995414 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9000288 Chronic Intermittent Hypoxia ISO RGD:2857 D RGD:9068941 20240125 RGD mRNA, protein:increased expression:liver (rat) PMID:32626927|REF_RGD_ID:401959337 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9000310 Lung Injury treatment ISO RGD:10756 D RGD:9068941 20200609 RGD associated with Bacteremia; PMID:24891762|REF_RGD_ID:11354979 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:2857 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (rat) PMID:20731855|REF_RGD_ID:4145368 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9000469 Viral Myocarditis ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:11156888|REF_RGD_ID:13702912 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9000469 Viral Myocarditis treatment ISO RGD:10756 D RGD:9068941 20200609 RGD PMID:11092674|REF_RGD_ID:13702913 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9000656 Penetrating Wounds ISO RGD:2857 D RGD:9068941 20200609 RGD mRNA:increased expression:granulation tissue (rat) PMID:20638379|REF_RGD_ID:4145377 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9000722 Animal Hepatitis treatment ISO RGD:10756 D RGD:9068941 20200609 RGD PMID:21695461|REF_RGD_ID:14402037 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17014439 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9000774 Brain Death ISO RGD:2857 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (rat) PMID:20810760|REF_RGD_ID:4145365 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9000784 Fibrosis ISO RGD:2857 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:pancreas PMID:22844569|REF_RGD_ID:8547732 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9000808 Hypercholesterolemia ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14602771 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:69659 D RGD:9068941 20200609 RGD associated with Melanoma, Cutaneous Malignant PMID:10465581|REF_RGD_ID:8547593 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:69659 D RGD:9068941 20200609 RGD associated with Pancreatic Neoplasms;protein:increased expression:serum PMID:12923961|REF_RGD_ID:2325163 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9000998 Brain Injuries ISO RGD:2857 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:16230799|REF_RGD_ID:11522716 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9001044 Choroidal Neovascularization ISO RGD:2857 D RGD:9068941 20200609 RGD mRNA:increased expression:retina, choroid, sclera (rat) PMID:20497436|REF_RGD_ID:4145405 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9001472 Nasal Polyps ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:nasal cavity epithelium PMID:11593541|REF_RGD_ID:8547687 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9001600 Wounds and Injuries ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21192278 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9001708 Hemorrhagic Shock ISO RGD:10756 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung (mouse) PMID:19828841|REF_RGD_ID:4145497 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9001708 Hemorrhagic Shock ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21192278 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9001725 Retina Reperfusion Injury ISO RGD:2857 D RGD:9068941 20200609 RGD associated with Hypertension PMID:15007035|REF_RGD_ID:8547707 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9001725 Retina Reperfusion Injury treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:10235552|REF_RGD_ID:8547704 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9002159 Liver Reperfusion Injury ISO RGD:2857 D RGD:9068941 20200609 RGD associated with Intestinal Reperfusion Injury;protein:increased expression:liver PMID:8780571|REF_RGD_ID:14402044 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:7884306|REF_RGD_ID:11520784 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:10756 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression:kidney (mouse) PMID:20447389|REF_RGD_ID:4145414 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:2857 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:19246972|REF_RGD_ID:2313470 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:69659 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;DNA:SNP: :p.K469E (rs5498) (human) PMID:18505543|REF_RGD_ID:2313475 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:69659 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma PMID:18299691|REF_RGD_ID:2312766 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia severity ISO RGD:69659 D RGD:9068941 20200609 RGD PMID:7658704|REF_RGD_ID:11354983 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9002265 Kidney Neoplasms ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:7686390|REF_RGD_ID:11520780 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16606632 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9002311 Experimental Autoimmune Myocarditis treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:11701617|REF_RGD_ID:13702911 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9002605 Delayed Hypersensitivity ISO RGD:10756 D RGD:9068941 20200609 RGD PMID:8093459|REF_RGD_ID:8547692 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9002906 Multiple Organ Failure ISO RGD:10756 D RGD:9068941 20200609 RGD protein:increased expression:pancreas, intestine (mouse) PMID:19819333|REF_RGD_ID:4145501 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9002906 Multiple Organ Failure ISO RGD:2857 D RGD:9068941 20200609 RGD protein:increased secretion:serum (rat) PMID:20646933|REF_RGD_ID:4145375 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:19213042|REF_RGD_ID:8547577 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16497620|PMID:7902311 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:10756 D RGD:9068941 20200609 RGD protein:increased expression:lung, endothelium (mouse) PMID:19968652|REF_RGD_ID:4145464 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased secretion:nasopharynx (human) PMID:19047814|REF_RGD_ID:4145520 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9003709 Mercury Poisoning ISO RGD:2857 D RGD:9068941 20200609 RGD protein:increased secretion:serum (rat) PMID:20508868|REF_RGD_ID:4145621 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9004009 Reperfusion Injury ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11557319|PMID:23743330 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9004484 Sepsis ISO RGD:2857 D RGD:9068941 20200609 RGD mRNA:increased expression:brain (rat) PMID:20451670|REF_RGD_ID:4145409 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9004610 Acute Lung Injury ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17973899|PMID:27525872 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:20569121|REF_RGD_ID:8547719 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9004898 Jaundice ISO RGD:2857 D RGD:9068941 20200609 RGD protein:increased expression:lung (rat) PMID:19034056|REF_RGD_ID:4145521 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9005036 Bacteremia ISO RGD:10756 D RGD:9068941 20200609 RGD mRNA:increased expression:lung,thymus,spleen: PMID:24891762|REF_RGD_ID:11354979 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9005372 Inflammation ISO RGD:10756 D RGD:9068941 20200609 RGD associated with Sjogren's Syndrome PMID:15037117|REF_RGD_ID:8547696 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9005372 Inflammation ISO RGD:2857 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; mRNA, protein:increased expression:kidney (rat) PMID:20980457|REF_RGD_ID:4145328 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9005372 Inflammation ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19324842|PMID:23371441 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9005372 Inflammation treatment ISO RGD:10756 D RGD:9068941 20200609 RGD associated with myocardial infarction PMID:21658725|REF_RGD_ID:13702909 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9005372 Inflammation treatment ISO RGD:2857 D RGD:9068941 20200626 RGD PMID:20600813|REF_RGD_ID:4145532 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9005396 Intimal Hyperplasia treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:9118520|REF_RGD_ID:11520787 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10756 D RGD:9068941 20200609 RGD mRNA:increased expression:aorta PMID:18093596|REF_RGD_ID:2306988 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2857 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18413153|REF_RGD_ID:2306987 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14871415|PMID:20388520|PMID:24513509 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:20136425|REF_RGD_ID:8547703 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9005647 Experimental Autoimmune Uveitis treatment ISO RGD:10756 D RGD:9068941 20200609 RGD PMID:8100190|REF_RGD_ID:8158117 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9005930 Endotoxemia ISO RGD:2857 D RGD:9068941 20200609 RGD protein:increased expression:lung (rat) PMID:19776691|REF_RGD_ID:4145502 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9006182 Carotid Artery Injuries ISO RGD:2857 D RGD:9068941 20200609 RGD mRNA:increased expression:carotid artery (rat) PMID:20368503|REF_RGD_ID:4145429 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9006642 Experimental Autoimmune Uveoretinitis treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:7909311|REF_RGD_ID:8547706 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9006646 Metabolic Syndrome ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19394054|REF_RGD_ID:2313467 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9006709 Primary Graft Dysfunction treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:10666412|PMID:22617707|REF_RGD_ID:11520779|REF_RGD_ID:8547722 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9006827 Lung Reperfusion Injury treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:22503847|REF_RGD_ID:7240537 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9006966 Pseudomonas Aeruginosa Keratitis ISO RGD:10756 D RGD:9068941 20200609 RGD PMID:9916118|REF_RGD_ID:8547701 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9007096 Stroke ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20083630 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9007096 Stroke treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:10066862|REF_RGD_ID:11522710 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9007156 Enteritis ISO RGD:2857 D RGD:9068941 20200609 RGD mRNA:increased expression:intestinal mucosa (rat) PMID:20885979|REF_RGD_ID:4145336 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9007355 Hashimoto Disease ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:7626551|REF_RGD_ID:8547592 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9007364 Mouth Neoplasms ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24069166 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:10756 D RGD:9068941 20200609 RGD PMID:29091898|REF_RGD_ID:15090820 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:29091898|REF_RGD_ID:15090820 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9007480 Hyperoxia ISO RGD:10756 D RGD:9068941 20200609 RGD protein:increased expression:lung (mouse) PMID:20237791|REF_RGD_ID:4145449 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9007558 Acute Experimental Pancreatitis treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:10201790|PMID:23706497|REF_RGD_ID:10402063|REF_RGD_ID:11520782 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9007651 Chronic Bronchitis ISO RGD:2857 D RGD:9068941 20200609 RGD protein:increased expression:bronchial epithelium (rat) PMID:19507274|REF_RGD_ID:2308951 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9007692 Insulin Resistance ISO RGD:69659 D RGD:9068941 20200609 RGD associated with Obesity;protein:increased secretion:plasma (human) PMID:11782876|REF_RGD_ID:1625753 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9007692 Insulin Resistance ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19394054|REF_RGD_ID:2313467 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9007755 Intestinal Reperfusion Injury ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:12095141|REF_RGD_ID:11522715 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9007755 Intestinal Reperfusion Injury treatment ISO RGD:2857 D RGD:9068941 20230824 RGD PMID:22079846|REF_RGD_ID:401794136 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2857 D RGD:9068941 20200609 RGD protein:increased expression:heart (rat) PMID:20851484|REF_RGD_ID:4145348 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12087064 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9008103 Seasonal Allergic Rhinitis ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased secretion:nasopharynx, secretion (human) PMID:20128420|REF_RGD_ID:4145459 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9008691 Liver Injury treatment ISO RGD:2857 D RGD:9068941 20200609 RGD associated with acute pancreatitis PMID:26586701|REF_RGD_ID:14402036 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12759764|PMID:17245593 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9009184 Eosinophilic Myocarditis treatment ISO RGD:10756 D RGD:9068941 20200609 RGD PMID:9822282|REF_RGD_ID:13702914 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9009185 Lymphocytic Myocarditis ISO RGD:69659 D RGD:9068941 20200609 RGD PMID:9205546|REF_RGD_ID:13703027 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9279 hyperhomocysteinemia ISO RGD:2857 D RGD:9068941 20200609 RGD protein:increased expression:descending aorta, endothelial cells (rat) PMID:20871618|REF_RGD_ID:4144131 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9351 diabetes mellitus ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19394054|REF_RGD_ID:2313467 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:2857 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:aorta (rat) PMID:20388520|REF_RGD_ID:4145422 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24513509 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:18299691|REF_RGD_ID:2312766 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9383 iridocyclitis ISO RGD:69659 D RGD:9068941 20200609 RGD DNA:SNP:exon:p.R241G (human) PMID:20445114|REF_RGD_ID:8547694 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9538 multiple myeloma ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:7686390|REF_RGD_ID:11520780 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9538 multiple myeloma treatment ISO RGD:69659 D RGD:9068941 20200609 RGD PMID:7834632|REF_RGD_ID:11354981 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9563 bronchiectasis ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17931847 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9719 neovascular inflammatory vitreoretinopathy ISO RGD:69659 D RGD:9068941 20200609 RGD associated with Retinal Detachment;protein:increased expression:vitreous humor PMID:10413701|REF_RGD_ID:8547581 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19373518|REF_RGD_ID:2313468 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:69659 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:16978373|REF_RGD_ID:1625758 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9970 obesity ISO RGD:2857 D RGD:9068941 20200609 RGD protein:increased expression:submandibular gland (rat) PMID:20973827|REF_RGD_ID:4145329 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9970 obesity ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11782876 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9970 obesity ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased secretion:plasma (human) PMID:20004360|REF_RGD_ID:4145463 8709744 Nme5 NME/NM23 family member 5 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1343010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 8709744 Nme5 NME/NM23 family member 5 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1343010 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8709744 Nme5 NME/NM23 family member 5 gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1343010 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 8709744 Nme5 NME/NM23 family member 5 gene DOID:10908 hydrocephalus ISO RGD:1623132 D RGD:9068941 20220825 MouseDO OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 8709744 Nme5 NME/NM23 family member 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8709744 Nme5 NME/NM23 family member 5 gene DOID:9005202 Primary Ciliary Dyskinesia 48 ISO RGD:1343010 D RGD:7240710 20220921 OMIM 8709744 Nme5 NME/NM23 family member 5 gene DOID:9005202 Primary Ciliary Dyskinesia 48 ISO RGD:1343010 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 48, without situs inversus PMID:25741868|PMID:32185794|PMID:32950024 8709744 Nme5 NME/NM23 family member 5 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1343010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 8709744 Nme5 NME/NM23 family member 5 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1343010 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8709757 Arfgef1 ARF guanine nucleotide exchange factor 1 gene DOID:0060261 congenital ptosis ISO RGD:1348298 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Congenital ptosis PMID:25741868|PMID:28492532 8709757 Arfgef1 ARF guanine nucleotide exchange factor 1 gene DOID:0110990 Joubert syndrome 21 ISO RGD:1348298 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Joubert syndrome 21 PMID:16199547|PMID:17576681|PMID:24360803|PMID:24360807|PMID:24360808|PMID:25741868|PMID:26092869|PMID:28492532|PMID:32386258|PMID:9536098 8709757 Arfgef1 ARF guanine nucleotide exchange factor 1 gene DOID:1059 intellectual disability ISO RGD:1348298 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:34113008 8709757 Arfgef1 ARF guanine nucleotide exchange factor 1 gene DOID:1826 epilepsy ISO RGD:1348298 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:34113008 8709757 Arfgef1 ARF guanine nucleotide exchange factor 1 gene DOID:2234 focal epilepsy ISO RGD:1348298 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:25741868 8709757 Arfgef1 ARF guanine nucleotide exchange factor 1 gene DOID:630 genetic disease ISO RGD:1348298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 8709757 Arfgef1 ARF guanine nucleotide exchange factor 1 gene DOID:8501 fundus dystrophy ISO RGD:1348298 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868 8709757 Arfgef1 ARF guanine nucleotide exchange factor 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348298 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:31678406|PMID:34113008|PMID:35782386 8709757 Arfgef1 ARF guanine nucleotide exchange factor 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:1348298 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:25741868|PMID:28492532 8709757 Arfgef1 ARF guanine nucleotide exchange factor 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1348298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532|PMID:34113008 8709757 Arfgef1 ARF guanine nucleotide exchange factor 1 gene DOID:9008567 DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES ISO RGD:1348298 D RGD:7240710 20221207 OMIM 8709757 Arfgef1 ARF guanine nucleotide exchange factor 1 gene DOID:9008567 DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES ISO RGD:1348298 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: ARFGEF1-related condition | ClinVar Annotator: match by term: Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures PMID:17640864|PMID:25741868|PMID:28492532|PMID:34113008|PMID:35782386 8709757 Arfgef1 ARF guanine nucleotide exchange factor 1 gene DOID:9008582 Developmental Disease ISO RGD:1348298 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8709808 Usp19 ubiquitin specific peptidase 19 gene DOID:0110293 autosomal recessive limb-girdle muscular dystrophy type 2P ISO RGD:1344113 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P PMID:20234391|PMID:25614308|PMID:25934851|PMID:28492532 8709808 Usp19 ubiquitin specific peptidase 19 gene DOID:0111585 carnitine-acylcarnitine translocase deficiency ISO RGD:1344113 D RGD:8554872 20240716 ClinVar ClinVar Annotator: match by term: Carnitine acylcarnitine translocase deficiency PMID:20234391|PMID:25614308|PMID:25934851|PMID:28492532 8709808 Usp19 ubiquitin specific peptidase 19 gene DOID:1827 generalized epilepsy ISO RGD:1344113 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy 8709808 Usp19 ubiquitin specific peptidase 19 gene DOID:2843 long QT syndrome ISO RGD:1344113 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 8709808 Usp19 ubiquitin specific peptidase 19 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1344113 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 8709846 Nudt16 nudix hydrolase 16 gene DOID:0080600 COVID-19 ISO RGD:1347227 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8709846 Nudt16 nudix hydrolase 16 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347227 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8709846 Nudt16 nudix hydrolase 16 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1347227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 8709846 Nudt16 nudix hydrolase 16 gene DOID:9270 alkaptonuria ISO RGD:1347227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 8709853 LOC102009550 olfactory receptor 5AU1 gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1343321 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 8709853 LOC102009550 olfactory receptor 5AU1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1343321 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8709854 Ptk6 protein tyrosine kinase 6 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1319246 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:14534157|PMID:17290276|PMID:19822871|PMID:20805988|PMID:23166088|PMID:23360469|PMID:23453664|PMID:23692823|PMID:23959892|PMID:24811917|PMID:25052858|PMID:25607374|PMID:25921748|PMID:26030193|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059 8709854 Ptk6 protein tyrosine kinase 6 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1319246 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 8709854 Ptk6 protein tyrosine kinase 6 gene DOID:0070022 autosomal recessive dyskeratosis congenita 5 ISO RGD:1319246 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 PMID:14534157|PMID:19822871|PMID:23453664|PMID:23692823|PMID:23959892|PMID:25607374|PMID:27779742|PMID:28492532 8709854 Ptk6 protein tyrosine kinase 6 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1319246 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:17290276|PMID:19822871|PMID:20805988|PMID:23166088|PMID:24811917|PMID:25921748|PMID:26030193|PMID:28492532|PMID:30866059 8709854 Ptk6 protein tyrosine kinase 6 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1319246 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 8709854 Ptk6 protein tyrosine kinase 6 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1319246 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:14534157|PMID:17290276|PMID:19822871|PMID:20805988|PMID:23166088|PMID:23360469|PMID:23453664|PMID:23692823|PMID:23959892|PMID:24811917|PMID:25052858|PMID:25607374|PMID:25921748|PMID:26030193|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059 8709854 Ptk6 protein tyrosine kinase 6 gene DOID:10126 keratoconus ISO RGD:1319246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Keratoconus 8709854 Ptk6 protein tyrosine kinase 6 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1319246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 8709854 Ptk6 protein tyrosine kinase 6 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1319246 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:14534157|PMID:19822871|PMID:23360469|PMID:23692823|PMID:24811917|PMID:25921748|PMID:27779742|PMID:28492532|PMID:30866059 8709854 Ptk6 protein tyrosine kinase 6 gene DOID:9008668 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 3 ISO RGD:1319246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3 PMID:14534157|PMID:19822871|PMID:23453664|PMID:23692823|PMID:23959892|PMID:25607374|PMID:27779742|PMID:28492532 8709873 Borcs7 BLOC-1 related complex subunit 7 gene DOID:2367 neuroaxonal dystrophy ISO RGD:1623226 D RGD:9068941 20220825 MouseDO 8709873 Borcs7 BLOC-1 related complex subunit 7 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1623226 D RGD:9068941 20220825 MouseDO 8709873 Borcs7 BLOC-1 related complex subunit 7 gene DOID:3873 desmoplastic/nodular medulloblastoma ISO RGD:1323417 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma PMID:12068298 8709873 Borcs7 BLOC-1 related complex subunit 7 gene DOID:5419 schizophrenia ISO RGD:1323417 D RGD:9068941 20220707 CTD CTD Direct Evidence: marker/mechanism PMID:27158905 8709893 Fxyd5 FXYD domain containing ion transport regulator 5 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1605677 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 8709893 Fxyd5 FXYD domain containing ion transport regulator 5 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1605677 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 8709893 Fxyd5 FXYD domain containing ion transport regulator 5 gene DOID:543 dystonia ISO RGD:1605677 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 8709893 Fxyd5 FXYD domain containing ion transport regulator 5 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1605677 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8709907 Ccdc50 coiled-coil domain containing 50 gene DOID:0050746 mantle cell lymphoma ISO RGD:1606954 D RGD:9068941 20200609 RGD PMID:19641524|REF_RGD_ID:9685139 8709907 Ccdc50 coiled-coil domain containing 50 gene DOID:0110569 autosomal dominant nonsyndromic deafness 44 ISO RGD:1606954 D RGD:7240710 20180130 OMIM 8709907 Ccdc50 coiled-coil domain containing 50 gene DOID:0110569 autosomal dominant nonsyndromic deafness 44 ISO RGD:1606954 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CCDC50-related condition | ClinVar Annotator: match by term: Deafness, autosomal dominant 44 PMID:12483295|PMID:17503326|PMID:24033266|PMID:24875298|PMID:25741868|PMID:28492532|PMID:30311386 8709907 Ccdc50 coiled-coil domain containing 50 gene DOID:5419 schizophrenia ISO RGD:1606954 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8709907 Ccdc50 coiled-coil domain containing 50 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1606954 D RGD:9068941 20200609 RGD PMID:19641524|REF_RGD_ID:9685139 8709936 Ube2d2 ubiquitin conjugating enzyme E2 D2 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:69475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 8709936 Ube2d2 ubiquitin conjugating enzyme E2 D2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:69475 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8709936 Ube2d2 ubiquitin conjugating enzyme E2 D2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:69475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8709936 Ube2d2 ubiquitin conjugating enzyme E2 D2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69475 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8709971 Itm2b integral membrane protein 2B gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1353059 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 8709971 Itm2b integral membrane protein 2B gene DOID:0070029 ITM2B-related cerebral amyloid angiopathy 1 ISO RGD:1353059 D RGD:7240710 20180130 OMIM 8709971 Itm2b integral membrane protein 2B gene DOID:0070029 ITM2B-related cerebral amyloid angiopathy 1 ISO RGD:1353059 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Presenile dementia with spastic ataxia PMID:10391242|PMID:21610757|PMID:25741868|PMID:28492532|PMID:31719132 8709971 Itm2b integral membrane protein 2B gene DOID:0070030 ITM2B-related cerebral amyloid angiopathy 2 ISO RGD:1353059 D RGD:7240710 20180130 OMIM 8709971 Itm2b integral membrane protein 2B gene DOID:0070030 ITM2B-related cerebral amyloid angiopathy 2 ISO RGD:1353059 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Heredopathia ophthalmootoencephalica PMID:10781099|PMID:25741868|PMID:28492532|PMID:31719132|PMID:5457846 8709971 Itm2b integral membrane protein 2B gene DOID:0080124 mitochondrial DNA depletion syndrome 5 ISO RGD:1353059 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) PMID:15877282|PMID:17301081|PMID:26475597|PMID:28492532 8709971 Itm2b integral membrane protein 2B gene DOID:1059 intellectual disability ISO RGD:1353059 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8709971 Itm2b integral membrane protein 2B gene DOID:10763 hypertension ISO RGD:1353059 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22228705 8709971 Itm2b integral membrane protein 2B gene DOID:5723 optic atrophy ISO RGD:1353059 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:25741868|PMID:28492532 8709971 Itm2b integral membrane protein 2B gene DOID:630 genetic disease ISO RGD:1353059 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8709971 Itm2b integral membrane protein 2B gene DOID:768 retinoblastoma ISO RGD:1353059 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Eye cancer, retinoblastoma | ClinVar Annotator: match by term: Retinoblastoma PMID:12541220|PMID:14722923|PMID:15877282|PMID:17096365|PMID:17301081|PMID:22180099|PMID:26475597|PMID:28492532|PMID:28575107|PMID:29568217|PMID:8099255 8709971 Itm2b integral membrane protein 2B gene DOID:768 retinoblastoma ISO RGD:1353059 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Retinoblastoma PMID:12541220|PMID:14722923|PMID:17096365|PMID:22180099|PMID:23301675|PMID:25741868|PMID:28492532|PMID:28575107|PMID:29568217|PMID:8099255 8709971 Itm2b integral membrane protein 2B gene DOID:8725 vascular dementia ISO RGD:1353059 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:33268848 8709971 Itm2b integral membrane protein 2B gene DOID:9004745 RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES ISO RGD:1353059 D RGD:7240710 20180130 OMIM 8709971 Itm2b integral membrane protein 2B gene DOID:9004745 RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES ISO RGD:1353059 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities PMID:24026677|PMID:25741868|PMID:28492532|PMID:31719132 8709971 Itm2b integral membrane protein 2B gene DOID:9246 cerebral amyloid angiopathy ISO RGD:1557698 D RGD:9068941 20220825 MouseDO 8709998 Prkrip1 PRKR interacting protein 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1316893 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8710039 Smyd5 SMYD family member 5 gene DOID:0050473 Alstrom syndrome ISO RGD:1319335 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alstrom syndrome PMID:28492532 8710039 Smyd5 SMYD family member 5 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1319335 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 8710039 Smyd5 SMYD family member 5 gene DOID:543 dystonia ISO RGD:1319335 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8710039 Smyd5 SMYD family member 5 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1319335 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8710064 Arc activity regulated cytoskeleton associated protein gene DOID:0060001 withdrawal disorder ISO RGD:62037 D RGD:9068941 20231214 RGD associated with morphine dependence;protein:increased expression:brain (rat) PMID:19262551|REF_RGD_ID:401938601 8710064 Arc activity regulated cytoskeleton associated protein gene DOID:0060001 withdrawal disorder ISO RGD:62329 D RGD:9068941 20240127 RGD associated with morphine dependence; mRNA,protein:increased expression:brain (mouse) PMID:27730515|REF_RGD_ID:401959609 8710064 Arc activity regulated cytoskeleton associated protein gene DOID:10652 Alzheimer's disease ISO RGD:730952 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18503570 8710064 Arc activity regulated cytoskeleton associated protein gene DOID:10914 amnestic disorder treatment ISO RGD:62329 D RGD:9068941 20231214 RGD PMID:24012642|REF_RGD_ID:401938610 8710064 Arc activity regulated cytoskeleton associated protein gene DOID:1574 alcohol use disorder ISO RGD:62329 D RGD:9068941 20240127 RGD associated with Prenatal Exposure Delayed Effects and anxiety disorder:DNA:Hypermthylation:promoter PMID:30016666|REF_RGD_ID:401959614 8710064 Arc activity regulated cytoskeleton associated protein gene DOID:2030 anxiety disorder ameliorates ISO RGD:62037 D RGD:9068941 20231221 RGD associated with alcohol dependence PMID:24103311|REF_RGD_ID:401938663 8710064 Arc activity regulated cytoskeleton associated protein gene DOID:2030 anxiety disorder ameliorates ISO RGD:62037 D RGD:9068941 20231221 RGD associated with alcohol use disorder PMID:18322102|PMID:21182574|PMID:25814047|REF_RGD_ID:401938616|REF_RGD_ID:401938648|REF_RGD_ID:401938652 8710064 Arc activity regulated cytoskeleton associated protein gene DOID:2560 morphine dependence ameliorates ISO RGD:62037 D RGD:9068941 20231214 RGD PMID:21549764|PMID:25746394|REF_RGD_ID:11087075|REF_RGD_ID:401851922 8710064 Arc activity regulated cytoskeleton associated protein gene DOID:3525 middle cerebral artery infarction ISO RGD:62037 D RGD:9068941 20200609 RGD PMID:22645329|REF_RGD_ID:10395314 8710064 Arc activity regulated cytoskeleton associated protein gene DOID:480 movement disease ISO RGD:730952 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20298714 8710064 Arc activity regulated cytoskeleton associated protein gene DOID:670 amphetamine abuse disease_progression ISO RGD:62329 D RGD:9068941 20231214 RGD mRNA:increased expression:brain (mouse) PMID:25959066|REF_RGD_ID:401938592 8710064 Arc activity regulated cytoskeleton associated protein gene DOID:9000499 Alcoholic Intoxication disease_progression ISO RGD:62329 D RGD:9068941 20231214 RGD mRNA:altered expression:brain (mouse) PMID:26708208|REF_RGD_ID:401853772 8710064 Arc activity regulated cytoskeleton associated protein gene DOID:9001733 Tinnitus ISO RGD:62037 D RGD:9068941 20200609 RGD mRNA:decreased expression:auditory cortex: PMID:18524887|REF_RGD_ID:8655535 8710064 Arc activity regulated cytoskeleton associated protein gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:62037 D RGD:9068941 20200609 RGD PMID:17275194|REF_RGD_ID:8655559 8710064 Arc activity regulated cytoskeleton associated protein gene DOID:9003884 Recombinant Chromosome 8 Syndrome ISO RGD:730952 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Recombinant 8 syndrome PMID:31690835 8710064 Arc activity regulated cytoskeleton associated protein gene DOID:9004538 Hearing Loss ISO RGD:62037 D RGD:9068941 20200609 RGD mRNA:decreased expression:auditory cortex: PMID:18524887|REF_RGD_ID:8655535 8710064 Arc activity regulated cytoskeleton associated protein gene DOID:9004538 Hearing Loss treatment ISO RGD:730952 D RGD:9068941 20200609 RGD PMID:18607918|REF_RGD_ID:8655538 8710064 Arc activity regulated cytoskeleton associated protein gene DOID:9005111 morphine withdrawal syndrome treatment ISO RGD:62037 D RGD:9068941 20240201 RGD PMID:30550948|REF_RGD_ID:401959617 8710064 Arc activity regulated cytoskeleton associated protein gene DOID:9005632 Cocaine-Related Disorders ISO RGD:730952 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18311559 8710064 Arc activity regulated cytoskeleton associated protein gene DOID:9007090 Experimental Seizures ISO RGD:62037 D RGD:9068941 20241114 RGD PMID:23744421|REF_RGD_ID:10395306 8710064 Arc activity regulated cytoskeleton associated protein gene DOID:9975 cocaine dependence ISO RGD:62329 D RGD:9068941 20231214 RGD protein:increased expression:dorsal striatum, shell of nucleus accumbens (mouse) PMID:27567310|REF_RGD_ID:401901591 8710071 Ces3 carboxylesterase 3 gene DOID:0060041 autism spectrum disorder ISO RGD:735260 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8710071 Ces3 carboxylesterase 3 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:735260 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8710071 Ces3 carboxylesterase 3 gene DOID:0110255 cataract 5 multiple types ISO RGD:735260 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 8710071 Ces3 carboxylesterase 3 gene DOID:11394 adult respiratory distress syndrome ISO RGD:735260 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 8710071 Ces3 carboxylesterase 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735260 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 8710071 Ces3 carboxylesterase 3 gene DOID:9007102 Myocardial Ischemia ISO RGD:735260 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8710071 Ces3 carboxylesterase 3 gene DOID:9008870 Chromosome 16q12 Duplication Syndrome ISO RGD:735260 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome PMID:25741868 8710090 Znf236 zinc finger protein 236 gene DOID:0050753 cerebellar ataxia ISO RGD:1320136 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868 8710090 Znf236 zinc finger protein 236 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1320136 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 8710090 Znf236 zinc finger protein 236 gene DOID:0080695 Burn-McKeown syndrome ISO RGD:1320136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Burn-McKeown syndrome PMID:25434003 8710090 Znf236 zinc finger protein 236 gene DOID:6420 pulmonary valve stenosis ISO RGD:1320136 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 8710090 Znf236 zinc finger protein 236 gene DOID:8445 intestinal volvulus ISO RGD:1320136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 8710090 Znf236 zinc finger protein 236 gene DOID:9001156 Oculootofacial Dysplasia ISO RGD:1320136 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA PMID:25434003 8710090 Znf236 zinc finger protein 236 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8710090 Znf236 zinc finger protein 236 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1320136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 8710139 Jrk Jrk helix-turn-helix protein gene DOID:1825 childhood absence epilepsy ISO RGD:1314867 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11463517 8710139 Jrk Jrk helix-turn-helix protein gene DOID:1827 generalized epilepsy ISO RGD:1314867 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11463517 8710139 Jrk Jrk helix-turn-helix protein gene DOID:4890 juvenile myoclonic epilepsy ISO RGD:1314867 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11463517 8710139 Jrk Jrk helix-turn-helix protein gene DOID:9003884 Recombinant Chromosome 8 Syndrome ISO RGD:1314867 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Recombinant 8 syndrome PMID:31690835 8710157 Crk CRK proto-oncogene, adaptor protein gene DOID:0060432 chromosome 17p13.3 duplication syndrome ISO RGD:736380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 17p13.3 duplication syndrome PMID:21681106 8710157 Crk CRK proto-oncogene, adaptor protein gene DOID:90 degenerative disc disease treatment ISO RGD:2405 D RGD:9068941 20200609 RGD PMID:23055810|REF_RGD_ID:11568070 8710157 Crk CRK proto-oncogene, adaptor protein gene DOID:9007102 Myocardial Ischemia ISO RGD:736380 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8710178 Dlk1 delta like non-canonical Notch ligand 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:732542 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18575777 8710178 Dlk1 delta like non-canonical Notch ligand 1 gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:732542 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 8710178 Dlk1 delta like non-canonical Notch ligand 1 gene DOID:0112308 central precocious puberty ISO RGD:732542 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Central precocious puberty 8710178 Dlk1 delta like non-canonical Notch ligand 1 gene DOID:13608 biliary atresia ISO RGD:732542 D RGD:9068941 20200609 RGD PMID:14743499|REF_RGD_ID:1625622 8710178 Dlk1 delta like non-canonical Notch ligand 1 gene DOID:3070 high grade glioma ISO RGD:732542 D RGD:9068941 20200609 RGD PMID:16288219|REF_RGD_ID:1625600 8710178 Dlk1 delta like non-canonical Notch ligand 1 gene DOID:630 genetic disease ISO RGD:732542 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8710178 Dlk1 delta like non-canonical Notch ligand 1 gene DOID:684 hepatocellular carcinoma ISO RGD:732543 D RGD:9068941 20210423 RGD mRNA:increased expression:liver (mouse) PMID:26569409|REF_RGD_ID:11344640 8710178 Dlk1 delta like non-canonical Notch ligand 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:732542 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27776119 8710178 Dlk1 delta like non-canonical Notch ligand 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:732543 D RGD:9068941 20211119 RGD PMID:24676147|REF_RGD_ID:150520045 8710178 Dlk1 delta like non-canonical Notch ligand 1 gene DOID:9007070 Silver-Russell Syndrome 1 ISO RGD:732542 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Silver-Russell syndrome 1 8710213 Pcyox1l prenylcysteine oxidase 1 like gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1604601 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8710213 Pcyox1l prenylcysteine oxidase 1 like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8710213 Pcyox1l prenylcysteine oxidase 1 like gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604601 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8710221 Cnga1 cyclic nucleotide gated channel subunit alpha 1 gene DOID:0050572 cone-rod dystrophy ISO RGD:730948 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:24033266|PMID:24265693|PMID:25326637|PMID:25741868|PMID:28492532|PMID:28981474|PMID:30718709|PMID:32531858|PMID:7479749 8710221 Cnga1 cyclic nucleotide gated channel subunit alpha 1 gene DOID:0110377 retinitis pigmentosa 49 ISO RGD:730948 D RGD:7240710 20180130 OMIM 8710221 Cnga1 cyclic nucleotide gated channel subunit alpha 1 gene DOID:0110377 retinitis pigmentosa 49 ISO RGD:730948 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: CNGA1-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 49 PMID:12362048|PMID:15570217|PMID:16199547|PMID:18310263|PMID:23462753|PMID:24033266|PMID:24154662|PMID:24265693|PMID:25268133|PMID:25326637|PMID:25356976|PMID:25611614|PMID:25741868|PMID:25775262|PMID:26306921|PMID:26496393|PMID:26802146|PMID:27391953|PMID:28041643|PMID:28492532|PMID:28981474|PMID:29785639|PMID:30337596|PMID:30543658|PMID:30652268|PMID:30718709|PMID:30902645|PMID:32531858|PMID:33946315|PMID:34906470|PMID:36115851|PMID:7479749 8710221 Cnga1 cyclic nucleotide gated channel subunit alpha 1 gene DOID:10283 prostate cancer ISO RGD:730948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:28492532 8710221 Cnga1 cyclic nucleotide gated channel subunit alpha 1 gene DOID:10584 retinitis pigmentosa ISO RGD:730948 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:12362048|PMID:16199547|PMID:18310263|PMID:24033266|PMID:24154662|PMID:24265693|PMID:25268133|PMID:25326637|PMID:25356976|PMID:25611614|PMID:25741868|PMID:26306921|PMID:26496393|PMID:28041643|PMID:28492532|PMID:28981474|PMID:29785639|PMID:30337596|PMID:30718709|PMID:31456290|PMID:7479749 8710221 Cnga1 cyclic nucleotide gated channel subunit alpha 1 gene DOID:10584 retinitis pigmentosa ISO RGD:730948 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:12362048|PMID:16199547|PMID:18310263|PMID:23462753|PMID:24033266|PMID:24154662|PMID:24265693|PMID:25268133|PMID:25324289|PMID:25326637|PMID:25356976|PMID:25611614|PMID:25741868|PMID:26306921|PMID:26496393|PMID:28041643|PMID:28492532|PMID:28981474|PMID:29785639|PMID:30337596|PMID:30718709|PMID:31456290|PMID:32037395|PMID:33090715|PMID:33946315|PMID:7479749 8710221 Cnga1 cyclic nucleotide gated channel subunit alpha 1 gene DOID:10584 retinitis pigmentosa ISO RGD:730948 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:12362048|PMID:16199547|PMID:18310263|PMID:23462753|PMID:24033266|PMID:24154662|PMID:24265693|PMID:25268133|PMID:25324289|PMID:25326637|PMID:25356976|PMID:25611614|PMID:25741868|PMID:26306921|PMID:26496393|PMID:27391953|PMID:28041643|PMID:28492532|PMID:28981474|PMID:29785639|PMID:30337596|PMID:30718709|PMID:31456290|PMID:32037395|PMID:32531858|PMID:33090715|PMID:33946315|PMID:34906470|PMID:7479749 8710221 Cnga1 cyclic nucleotide gated channel subunit alpha 1 gene DOID:4448 macular degeneration ISO RGD:730948 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:24033266|PMID:24265693|PMID:25326637|PMID:25741868|PMID:28492532|PMID:28981474|PMID:30718709|PMID:32531858|PMID:7479749 8710221 Cnga1 cyclic nucleotide gated channel subunit alpha 1 gene DOID:5723 optic atrophy ISO RGD:730948 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:25741868 8710221 Cnga1 cyclic nucleotide gated channel subunit alpha 1 gene DOID:630 genetic disease ISO RGD:730948 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8710221 Cnga1 cyclic nucleotide gated channel subunit alpha 1 gene DOID:8501 fundus dystrophy ISO RGD:730948 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:12362048|PMID:23462753|PMID:24033266|PMID:24154662|PMID:24265693|PMID:25268133|PMID:25326637|PMID:25611614|PMID:25741868|PMID:25775262|PMID:26306921|PMID:26496393|PMID:26802146|PMID:26806561|PMID:27208204|PMID:28041643|PMID:28492532|PMID:28981474|PMID:29785639|PMID:30337596|PMID:30543658|PMID:30718709|PMID:31456290|PMID:32037395|PMID:32531858|PMID:34906470|PMID:7479749 8710237 Twf2 twinfilin actin binding protein 2 gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1312984 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 8710237 Twf2 twinfilin actin binding protein 2 gene DOID:0080600 COVID-19 ISO RGD:1312984 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8710259 Prkra protein activator of interferon induced protein kinase EIF2AK2 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1315476 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness PMID:24033266|PMID:25741868|PMID:28492532 8710259 Prkra protein activator of interferon induced protein kinase EIF2AK2 gene DOID:0080855 Parkinsonism ISO RGD:1315476 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18243799 8710259 Prkra protein activator of interferon induced protein kinase EIF2AK2 gene DOID:0090048 dystonia 16 ISO RGD:1315476 D RGD:7240710 20180130 OMIM 8710259 Prkra protein activator of interferon induced protein kinase EIF2AK2 gene DOID:0090048 dystonia 16 ISO RGD:1315476 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dystonia 16 | ClinVar Annotator: match by term: PRKRA-related condition PMID:18243799|PMID:18420150|PMID:24033266|PMID:24142417|PMID:25142429|PMID:25737287|PMID:25741868|PMID:26231208|PMID:26990861|PMID:28492532|PMID:29279192 8710259 Prkra protein activator of interferon induced protein kinase EIF2AK2 gene DOID:0110430 dilated cardiomyopathy 1G ISO RGD:1315476 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:18948003|PMID:23975875|PMID:24395473|PMID:25589632|PMID:25640679|PMID:28492532|PMID:29792937|PMID:30238059|PMID:30557390 8710259 Prkra protein activator of interferon induced protein kinase EIF2AK2 gene DOID:0110511 autosomal recessive nonsyndromic deafness 59 ISO RGD:1315476 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 59 PMID:25741868 8710259 Prkra protein activator of interferon induced protein kinase EIF2AK2 gene DOID:1059 intellectual disability ISO RGD:1315476 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 8710259 Prkra protein activator of interferon induced protein kinase EIF2AK2 gene DOID:543 dystonia ISO RGD:1315476 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dystonia | ClinVar Annotator: match by term: Dystonic disorder PMID:24033266|PMID:25741868|PMID:28492532 8710259 Prkra protein activator of interferon induced protein kinase EIF2AK2 gene DOID:630 genetic disease ISO RGD:1315476 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8710259 Prkra protein activator of interferon induced protein kinase EIF2AK2 gene DOID:9001502 Congenital Microtia ISO RGD:1315476 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:25554729 8710259 Prkra protein activator of interferon induced protein kinase EIF2AK2 gene DOID:9002500 Hearing Disorders ISO RGD:1315476 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:25554729 8710259 Prkra protein activator of interferon induced protein kinase EIF2AK2 gene DOID:9004538 Hearing Loss ISO RGD:1315476 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:24033266|PMID:25741868|PMID:28492532 8710259 Prkra protein activator of interferon induced protein kinase EIF2AK2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1306707 D RGD:9068941 20200609 RGD PMID:21897745|REF_RGD_ID:7777145 8710259 Prkra protein activator of interferon induced protein kinase EIF2AK2 gene DOID:9005941 Rhinosinusitis severity ISO RGD:1315476 D RGD:9068941 20200609 RGD associated with Nasal Polyps PMID:22961479|REF_RGD_ID:7777146 8710259 Prkra protein activator of interferon induced protein kinase EIF2AK2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1315476 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22194846 8710272 Ifrd2 interferon related developmental regulator 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1320999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 8710272 Ifrd2 interferon related developmental regulator 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1320999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 8710272 Ifrd2 interferon related developmental regulator 2 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1320999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 8710272 Ifrd2 interferon related developmental regulator 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1320999 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8710300 Vti1a vesicle transport through interaction with t-SNAREs 1A gene DOID:299 adenocarcinoma ISO RGD:736863 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21892161 8710300 Vti1a vesicle transport through interaction with t-SNAREs 1A gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:25741868 8710300 Vti1a vesicle transport through interaction with t-SNAREs 1A gene DOID:9008443 Colorectal Neoplasms ISO RGD:736863 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21892161 8710333 Klhl38 kelch like family member 38 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:2300033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 8710348 Plce1 phospholipase C epsilon 1 gene DOID:0080322 polycystic kidney disease ISO RGD:1606000 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease PMID:25741868|PMID:28492532 8710348 Plce1 phospholipase C epsilon 1 gene DOID:0080379 nephrotic syndrome type 2 ISO RGD:1606000 D RGD:9068941 20200609 RGD DNA:mutations: : PMID:20591883|REF_RGD_ID:7257521 8710348 Plce1 phospholipase C epsilon 1 gene DOID:0080382 nephrotic syndrome type 3 ISO RGD:1606000 D RGD:7240710 20180130 OMIM 8710348 Plce1 phospholipase C epsilon 1 gene DOID:0080382 nephrotic syndrome type 3 ISO RGD:1606000 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: NEPHROTIC SYNDROME, EARLY-ONSET, TYPE 3 | ClinVar Annotator: match by term: Nephrotic syndrome, type 3 | ClinVar Annotator: match by term: PLCE1-related condition PMID:17086182|PMID:17576681|PMID:18065803|PMID:18709391|PMID:18975016|PMID:20507940|PMID:20591883|PMID:22865593|PMID:23595123|PMID:24130771|PMID:24247120|PMID:24500309|PMID:24902943|PMID:25060053|PMID:25741868|PMID:26467025|PMID:26668027|PMID:27766458|PMID:28492532|PMID:28780565|PMID:31319225|PMID:35368817|PMID:35497790|PMID:36413997|PMID:9536098 8710348 Plce1 phospholipase C epsilon 1 gene DOID:0080390 nephrotic syndrome type 1 ISO RGD:1606000 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome PMID:25741868 8710348 Plce1 phospholipase C epsilon 1 gene DOID:0111128 focal segmental glomerulosclerosis 1 ISO RGD:1606000 D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Focal sclerosis with hyalinosis PMID:25741868|PMID:26467025|PMID:28492532 8710348 Plce1 phospholipase C epsilon 1 gene DOID:0111365 benign familial hematuria ISO RGD:1606000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microscopic hematuria PMID:25741868 8710348 Plce1 phospholipase C epsilon 1 gene DOID:1184 nephrotic syndrome ISO RGD:1606000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:25741868|PMID:28492532|PMID:29127259 8710348 Plce1 phospholipase C epsilon 1 gene DOID:1184 nephrotic syndrome onset ISO RGD:1606000 D RGD:9068941 20200609 RGD DNA:mutations: : PMID:17086182|REF_RGD_ID:7257519 8710348 Plce1 phospholipase C epsilon 1 gene DOID:12206 dengue hemorrhagic fever ISO RGD:1606000 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22001756 8710348 Plce1 phospholipase C epsilon 1 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1606000 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal PMID:18975016|PMID:20507940|PMID:25060053|PMID:25741868|PMID:26467025|PMID:28492532 8710348 Plce1 phospholipase C epsilon 1 gene DOID:2921 glomerulonephritis ISO RGD:1606000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glomerulonephritis PMID:25741868 8710348 Plce1 phospholipase C epsilon 1 gene DOID:299 adenocarcinoma ISO RGD:1606000 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20729852 8710348 Plce1 phospholipase C epsilon 1 gene DOID:3717 gastric adenocarcinoma ameliorates ISO RGD:1606000 D RGD:9068941 20220415 RGD human cells in a mouse model PMID:24796667|REF_RGD_ID:151708719 8710348 Plce1 phospholipase C epsilon 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1606000 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20729852|PMID:20729853 8710348 Plce1 phospholipase C epsilon 1 gene DOID:557 kidney disease ISO RGD:1606000 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: renal disease PMID:22865593|PMID:25741868|PMID:26467025|PMID:28492532 8710348 Plce1 phospholipase C epsilon 1 gene DOID:576 proteinuria ISO RGD:1606000 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Proteinuria PMID:25741868|PMID:28492532 8710348 Plce1 phospholipase C epsilon 1 gene DOID:630 genetic disease ISO RGD:1606000 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532|PMID:36413997 8710348 Plce1 phospholipase C epsilon 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1606000 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20729852 8710348 Plce1 phospholipase C epsilon 1 gene DOID:9008897 Diffuse Mesangial Sclerosis ISO RGD:1606000 D RGD:9068941 20200609 RGD DNA:mutations: : PMID:18065803|REF_RGD_ID:7257520 8710384 Fam177a1 family with sequence similarity 177 member A1 gene DOID:0111921 spermatogenic failure 36 ISO RGD:1342850 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 36 PMID:25741868|PMID:30893644|PMID:34714774|PMID:34750818|PMID:8849014 8710384 Fam177a1 family with sequence similarity 177 member A1 gene DOID:9002447 Myoectodermal Gonadal Dysgenesis Syndrome ISO RGD:1342850 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy PMID:30893644|PMID:34714774|PMID:34750818|PMID:35812758|PMID:8849014 8710397 Chrdl2 chordin like 2 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1314650 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 8710397 Chrdl2 chordin like 2 gene DOID:1059 intellectual disability ISO RGD:1314650 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8710415 Ica1l islet cell autoantigen 1 like gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1346474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 8710415 Ica1l islet cell autoantigen 1 like gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:1346474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 8710415 Ica1l islet cell autoantigen 1 like gene DOID:14557 primary pulmonary hypertension ISO RGD:1346474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 8710415 Ica1l islet cell autoantigen 1 like gene DOID:3393 coronary artery disease ISO RGD:1346474 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:34961328 8710415 Ica1l islet cell autoantigen 1 like gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1346474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 8710415 Ica1l islet cell autoantigen 1 like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8710415 Ica1l islet cell autoantigen 1 like gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:1346474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 8710451 Skic2 SKI2 subunit of superkiller complex gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1351044 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8710451 Skic2 SKI2 subunit of superkiller complex gene DOID:0111414 trichohepatoenteric syndrome ISO RGD:1351044 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Trichohepatoenteric syndrome PMID:16199547|PMID:22444670|PMID:25741868|PMID:27050310|PMID:28492532|PMID:28496993|PMID:29527791|PMID:31681265|PMID:33098347|PMID:33249554|PMID:35607352 8710451 Skic2 SKI2 subunit of superkiller complex gene DOID:0111416 trichohepatoenteric syndrome 2 ISO RGD:1351044 D RGD:7240710 20180130 OMIM 8710451 Skic2 SKI2 subunit of superkiller complex gene DOID:0111416 trichohepatoenteric syndrome 2 ISO RGD:1351044 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: SKIC2-related condition | ClinVar Annotator: match by term: Trichohepatoenteric syndrome 2 PMID:16199547|PMID:22444670|PMID:24033266|PMID:25326635|PMID:25714577|PMID:25741868|PMID:27050310|PMID:27431780|PMID:28492532|PMID:28496993|PMID:29527791|PMID:31681265|PMID:32313153|PMID:32963807|PMID:33098347|PMID:33114497|PMID:33249554|PMID:34414925|PMID:35607352 8710451 Skic2 SKI2 subunit of superkiller complex gene DOID:0111952 immunodeficiency 57 ISO RGD:1351044 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Immunodeficiency 57 PMID:22444670|PMID:25741868|PMID:28492532 8710451 Skic2 SKI2 subunit of superkiller complex gene DOID:630 genetic disease ISO RGD:1351044 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8710483 LOC102006745 chromosome unknown open reading frame, human C5orf24 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1605291 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8710483 LOC102006745 chromosome unknown open reading frame, human C5orf24 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8710483 LOC102006745 chromosome unknown open reading frame, human C5orf24 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605291 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8710522 Tfam transcription factor A, mitochondrial gene DOID:0080337 mitochondrial DNA depletion syndrome 15 ISO RGD:1605718 D RGD:7240710 20190315 OMIM 8710522 Tfam transcription factor A, mitochondrial gene DOID:0080337 mitochondrial DNA depletion syndrome 15 ISO RGD:1605718 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) | ClinVar Annotator: match by term: TFAM-related condition PMID:25741868|PMID:27448789|PMID:28492532 8710522 Tfam transcription factor A, mitochondrial gene DOID:0080855 Parkinsonism ISO RGD:733567 D RGD:9068941 20200609 RGD mRNA:increased expression:striatum PMID:22040668|REF_RGD_ID:6484267 8710522 Tfam transcription factor A, mitochondrial gene DOID:0110721 neuronal ceroid lipofuscinosis 1 ISO RGD:1605718 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21224254 8710522 Tfam transcription factor A, mitochondrial gene DOID:10003 sensorineural hearing loss ISO RGD:1605718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 8710522 Tfam transcription factor A, mitochondrial gene DOID:10652 Alzheimer's disease ISO RGD:1605718 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17192785 8710522 Tfam transcription factor A, mitochondrial gene DOID:10652 Alzheimer's disease ISO RGD:1605718 D RGD:9068941 20200609 RGD DNA:SNP: :rs1937 (human) PMID:21799244|REF_RGD_ID:6767575 8710522 Tfam transcription factor A, mitochondrial gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:1605718 D RGD:9068941 20200609 RGD DNA:SNP:intron:IVS4+113A>G (rs2306604) (human) PMID:17537576|REF_RGD_ID:6771185 8710522 Tfam transcription factor A, mitochondrial gene DOID:12858 Huntington's disease ISO RGD:1605718 D RGD:9068941 20200609 RGD PMID:21595933|REF_RGD_ID:6770890 8710522 Tfam transcription factor A, mitochondrial gene DOID:12858 Huntington's disease ISO RGD:733567 D RGD:9068941 20200609 RGD mRNA:decreased expression:striatum PMID:20529956|REF_RGD_ID:6771173 8710522 Tfam transcription factor A, mitochondrial gene DOID:12934 Kearns-Sayre syndrome ISO RGD:733567 D RGD:9068941 20220825 MouseDO OMIM:530000 8710522 Tfam transcription factor A, mitochondrial gene DOID:13548 secondary Parkinson disease ISO RGD:1605718 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28595911 8710522 Tfam transcription factor A, mitochondrial gene DOID:14330 Parkinson's disease ISO RGD:733567 D RGD:9068941 20220825 MouseDO OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 8710522 Tfam transcription factor A, mitochondrial gene DOID:14330 Parkinson's disease no_association ISO RGD:1605718 D RGD:9068941 20200609 RGD DNA:missense mutation, SNP:exon, intron:p.S12T, IVS4+113A>G (rs1937, rs2306604) (human) PMID:17537576|REF_RGD_ID:6771185 8710522 Tfam transcription factor A, mitochondrial gene DOID:14330 Parkinson's disease no_association ISO RGD:1605718 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.S12T (rs1937) (human) PMID:18248889|REF_RGD_ID:6771184 8710522 Tfam transcription factor A, mitochondrial gene DOID:14330 Parkinson's disease susceptibility ISO RGD:1605718 D RGD:9068941 20200609 RGD DNA:SNP:intron:IVS4+113A>G (rs2306604) (human) PMID:19925850|REF_RGD_ID:14389730 8710522 Tfam transcription factor A, mitochondrial gene DOID:1824 status epilepticus ISO RGD:620682 D RGD:9068941 20200609 RGD PMID:21854834|REF_RGD_ID:6767574 8710522 Tfam transcription factor A, mitochondrial gene DOID:332 amyotrophic lateral sclerosis severity ISO RGD:1605718 D RGD:9068941 20200609 RGD PMID:22354563|REF_RGD_ID:6767572 8710522 Tfam transcription factor A, mitochondrial gene DOID:9000761 Deoxyguanosine Kinase Deficiency ISO RGD:1605718 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Hepatocerebral Mitochondrial DNA Depletion Syndrome PMID:25741868|PMID:28492532 8710522 Tfam transcription factor A, mitochondrial gene DOID:9001708 Hemorrhagic Shock ISO RGD:620682 D RGD:9068941 20200609 RGD PMID:22469910|REF_RGD_ID:6767567 8710522 Tfam transcription factor A, mitochondrial gene DOID:9002669 Hypoxia treatment ISO RGD:620682 D RGD:9068941 20230720 RGD mRNA:decreased expression:left ventricle myocardium (rat) PMID:33310031|REF_RGD_ID:329955450 8710522 Tfam transcription factor A, mitochondrial gene DOID:9002906 Multiple Organ Failure ISO RGD:1605718 D RGD:9068941 20200609 RGD associated with Sepsis;protein:increased expression:skeletal muscle PMID:18997871|REF_RGD_ID:6771188 8710522 Tfam transcription factor A, mitochondrial gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:620682 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex PMID:18723421|REF_RGD_ID:2302400 8710522 Tfam transcription factor A, mitochondrial gene DOID:9004009 Reperfusion Injury ISO RGD:620682 D RGD:9068941 20200609 RGD PMID:22266265|REF_RGD_ID:6767573 8710522 Tfam transcription factor A, mitochondrial gene DOID:9005372 Inflammation ISO RGD:620682 D RGD:9068941 20200609 RGD PMID:22469910|REF_RGD_ID:6767567 8710522 Tfam transcription factor A, mitochondrial gene DOID:9006205 Animal Disease Models ISO RGD:1605718 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28595911 8710522 Tfam transcription factor A, mitochondrial gene DOID:9007170 Bowen's Disease ISO RGD:1605718 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21514422 8710522 Tfam transcription factor A, mitochondrial gene DOID:9007346 Cachexia ISO RGD:1605718 D RGD:9068941 20200609 RGD associated with Pulmonary Disease, Chronic Obstructive (COPD, MeSH:D029424); RNA, protein:decreased expression:skeletal muscle PMID:17459894|REF_RGD_ID:5683621 8710522 Tfam transcription factor A, mitochondrial gene DOID:9970 obesity ISO RGD:1605718 D RGD:9068941 20200609 RGD PMID:21862610|REF_RGD_ID:5683906 8710522 Tfam transcription factor A, mitochondrial gene DOID:9970 obesity treatment ISO RGD:620682 D RGD:9068941 20230720 RGD mRNA:decreased expression:left ventricle myocardium (rat) PMID:33310031|REF_RGD_ID:329955450 8710536 Rrp7a ribosomal RNA processing 7 homolog A gene DOID:0051039 primary autosomal recessive microcephaly 28 ISO RGD:1607047 D RGD:7240710 20210804 OMIM 8710536 Rrp7a ribosomal RNA processing 7 homolog A gene DOID:0051039 primary autosomal recessive microcephaly 28 ISO RGD:1607047 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly 28, primary, autosomal recessive PMID:33199730 8710536 Rrp7a ribosomal RNA processing 7 homolog A gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1607047 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:28492532 8710536 Rrp7a ribosomal RNA processing 7 homolog A gene DOID:1059 intellectual disability ISO RGD:1607047 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8710536 Rrp7a ribosomal RNA processing 7 homolog A gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:1607047 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities PMID:30819258|PMID:31690835 8710554 Phlpp2 PH domain and leucine rich repeat protein phosphatase 2 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1604636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8710588 Sez6l seizure related 6 homolog like gene DOID:0110271 cataract 23 ISO RGD:1344560 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cataract 23 PMID:28492532 8710588 Sez6l seizure related 6 homolog like gene DOID:10283 prostate cancer ISO RGD:1344560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8710613 Lrrc59 leucine rich repeat containing 59 gene DOID:0110334 osteogenesis imperfecta type 1 ISO RGD:1605059 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type I PMID:25741868 8710613 Lrrc59 leucine rich repeat containing 59 gene DOID:0111565 trichodontoosseous syndrome ISO RGD:1605059 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Tricho-dento-osseous syndrome PMID:25741868 8710613 Lrrc59 leucine rich repeat containing 59 gene DOID:3068 glioblastoma ISO RGD:1605059 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 8710613 Lrrc59 leucine rich repeat containing 59 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1605059 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 8710613 Lrrc59 leucine rich repeat containing 59 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1605059 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 PMID:38922859 8710613 Lrrc59 leucine rich repeat containing 59 gene DOID:684 hepatocellular carcinoma ISO RGD:1605059 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 8710613 Lrrc59 leucine rich repeat containing 59 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1605059 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 8710613 Lrrc59 leucine rich repeat containing 59 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1605059 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 8710624 Ttc19 tetratricopeptide repeat domain 19 gene DOID:0060351 mitochondrial complex III deficiency nuclear type 2 ISO RGD:1353382 D RGD:7240710 20180130 OMIM 8710624 Ttc19 tetratricopeptide repeat domain 19 gene DOID:0060351 mitochondrial complex III deficiency nuclear type 2 ISO RGD:1353382 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 2 | ClinVar Annotator: match by term: TTC19-related condition PMID:17576681|PMID:21278747|PMID:23532514|PMID:24368687|PMID:24397319|PMID:25741868|PMID:25887401|PMID:25899669|PMID:28128857|PMID:28492532|PMID:30793526|PMID:9536098 8710624 Ttc19 tetratricopeptide repeat domain 19 gene DOID:0080111 mitochondrial complex III deficiency nuclear type 1 ISO RGD:1353382 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 1 PMID:25741868 8710624 Ttc19 tetratricopeptide repeat domain 19 gene DOID:12849 autistic disorder ISO RGD:1353382 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868 8710624 Ttc19 tetratricopeptide repeat domain 19 gene DOID:1289 neurodegenerative disease ISO RGD:1353382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21278747 8710624 Ttc19 tetratricopeptide repeat domain 19 gene DOID:5223 infertility ISO RGD:1353382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21278747 8710624 Ttc19 tetratricopeptide repeat domain 19 gene DOID:630 genetic disease ISO RGD:1353382 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21278747|PMID:25741868|PMID:25887401|PMID:28492532|PMID:30793526 8710624 Ttc19 tetratricopeptide repeat domain 19 gene DOID:700 mitochondrial metabolism disease ISO RGD:1353382 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Mitochondrial disease 8710624 Ttc19 tetratricopeptide repeat domain 19 gene DOID:863 nervous system disease ISO RGD:1353382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21278747 8710624 Ttc19 tetratricopeptide repeat domain 19 gene DOID:9006230 Neurologic Gait Disorders ISO RGD:1353382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21278747 8710659 Cnnm1 cyclin and CBS domain divalent metal cation transport mediator 1 gene DOID:1909 melanoma ISO RGD:1318672 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16778180 8710659 Cnnm1 cyclin and CBS domain divalent metal cation transport mediator 1 gene DOID:3007 breast ductal carcinoma ISO RGD:1318672 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 8710659 Cnnm1 cyclin and CBS domain divalent metal cation transport mediator 1 gene DOID:3008 invasive ductal carcinoma ISO RGD:1318672 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Breast cancer, invasive ductal 8710676 Cisd2 CDGSH iron sulfur domain 2 gene DOID:0110630 Wolfram syndrome 2 ISO RGD:1603794 D RGD:7240710 20180130 OMIM 8710676 Cisd2 CDGSH iron sulfur domain 2 gene DOID:0110630 Wolfram syndrome 2 ISO RGD:1603794 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CISD2-related condition | ClinVar Annotator: match by term: Wolfram syndrome 2 PMID:10739754|PMID:17576681|PMID:17846994|PMID:25056293|PMID:25371195|PMID:25741868|PMID:28492532|PMID:29237418|PMID:9536098 8710676 Cisd2 CDGSH iron sulfur domain 2 gene DOID:3633 beta-mannosidosis ISO RGD:1603794 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-D-mannosidosis PMID:12468273|PMID:28492532|PMID:28942967|PMID:29432562|PMID:30455226|PMID:30951195|PMID:9384606 8710676 Cisd2 CDGSH iron sulfur domain 2 gene DOID:630 genetic disease ISO RGD:1603794 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8710676 Cisd2 CDGSH iron sulfur domain 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1603794 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 8710684 Fermt1 FERM domain containing kindlin 1 gene DOID:0060472 Kindler syndrome ISO RGD:1315645 D RGD:7240710 20190315 OMIM 8710684 Fermt1 FERM domain containing kindlin 1 gene DOID:0060472 Kindler syndrome ISO RGD:1315645 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: FERMT1-related condition | ClinVar Annotator: match by term: Kindler syndrome PMID:12668616|PMID:12789646|PMID:14507403|PMID:14962093|PMID:15313809|PMID:16199547|PMID:16675959|PMID:16702500|PMID:17178989|PMID:17460733|PMID:17916195|PMID:18528435|PMID:19292718|PMID:19762715|PMID:20938162|PMID:21336475|PMID:21936020|PMID:22220914|PMID:22466645|PMID:24346923|PMID:24635075|PMID:24635080|PMID:25156791|PMID:25437880|PMID:25599393|PMID:25741868|PMID:26937547|PMID:27293055|PMID:27862150|PMID:28443301|PMID:28492532|PMID:29130490|PMID:29453417|PMID:30838128|PMID:31340837|PMID:31957900 8710684 Fermt1 FERM domain containing kindlin 1 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1315645 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 8710684 Fermt1 FERM domain containing kindlin 1 gene DOID:1272 telangiectasis ISO RGD:1315645 D RGD:9068941 20200609 RGD Kindler syndrome, OMIM:173650 DNA:point_mutation:CDS:C787T, amino acid Q263X PMID:12668616|REF_RGD_ID:1600405 8710684 Fermt1 FERM domain containing kindlin 1 gene DOID:2731 vesiculobullous skin disease ISO RGD:1315645 D RGD:9068941 20200609 RGD Kindler syndrome, OMIM:173650 DNA:point_mutation:CDS:C787T, amino acid Q263X PMID:12668616|REF_RGD_ID:1600405 8710684 Fermt1 FERM domain containing kindlin 1 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1315645 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 8710684 Fermt1 FERM domain containing kindlin 1 gene DOID:630 genetic disease ISO RGD:1315645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8710684 Fermt1 FERM domain containing kindlin 1 gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:1315645 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Inosine triphosphatase deficiency PMID:26224535|PMID:28492532|PMID:34989426 8710684 Fermt1 FERM domain containing kindlin 1 gene DOID:9004462 Atrophy ISO RGD:1315645 D RGD:9068941 20200609 RGD Kindler syndrome, OMIM:173650 DNA:point_mutation:CDS:C787T, amino acid Q263X PMID:12668616|REF_RGD_ID:1600405 8710684 Fermt1 FERM domain containing kindlin 1 gene DOID:9006976 Erythema ISO RGD:1315645 D RGD:9068941 20200609 RGD Kindler syndrome, OMIM:173650 DNA:point_mutation:CDS:C787T, amino acid Q263X PMID:12668616|REF_RGD_ID:1600405 8710719 Fndc7 fibronectin type III domain containing 7 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1604516 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 8710719 Fndc7 fibronectin type III domain containing 7 gene DOID:12849 autistic disorder ISO RGD:1604516 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8710774 Asb13 ankyrin repeat and SOCS box containing 13 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1321264 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 8710774 Asb13 ankyrin repeat and SOCS box containing 13 gene DOID:5419 schizophrenia ISO RGD:1321264 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8710784 Itm2a integral membrane protein 2A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1354301 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8710784 Itm2a integral membrane protein 2A gene DOID:0080600 COVID-19 ISO RGD:1354301 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8710784 Itm2a integral membrane protein 2A gene DOID:0111823 autosomal hemophilia A ISO RGD:1354301 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A PMID:31690835 8710784 Itm2a integral membrane protein 2A gene DOID:12134 factor VIII deficiency ISO RGD:1354301 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Factor 8 deficiency, congenital PMID:31690835 8710784 Itm2a integral membrane protein 2A gene DOID:12849 autistic disorder ISO RGD:1354301 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8710803 Fam83a family with sequence similarity 83 member A gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1602845 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 8710803 Fam83a family with sequence similarity 83 member A gene DOID:9000918 Disease Progression ISO RGD:1602845 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:34931434 8710803 Fam83a family with sequence similarity 83 member A gene DOID:9002762 Ovarian Neoplasms ISO RGD:1602845 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:34931434 8710803 Fam83a family with sequence similarity 83 member A gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1602845 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:34931434 8710848 C4bpa complement component 4 binding protein alpha gene DOID:0050589 inflammatory bowel disease ISO RGD:736103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease PMID:28492532 8710848 C4bpa complement component 4 binding protein alpha gene DOID:0080600 COVID-19 severity ISO RGD:736103 D RGD:9068941 20200813 RGD DNA:SNP: :rs61821041(human) PMID:32747830|REF_RGD_ID:38500238 8710848 C4bpa complement component 4 binding protein alpha gene DOID:0081150 common variable immunodeficiency 7 ISO RGD:736103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 PMID:28492532 8710848 C4bpa complement component 4 binding protein alpha gene DOID:12849 autistic disorder ISO RGD:736103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8710848 C4bpa complement component 4 binding protein alpha gene DOID:1540 parathyroid carcinoma ISO RGD:736103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8710848 C4bpa complement component 4 binding protein alpha gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:736103 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8710848 C4bpa complement component 4 binding protein alpha gene DOID:9008604 Radiation Pneumonitis ISO RGD:736103 D RGD:9068941 20200609 RGD Protein: increased expression: plasma PMID:20510197|REF_RGD_ID:5129484 8710848 C4bpa complement component 4 binding protein alpha gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8710866 Ddx20 DEAD-box helicase 20 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1320818 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 8710882 Tpm1 tropomyosin 1 gene DOID:0050700 cardiomyopathy ISO RGD:737098 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:07729014|PMID:07898523|PMID:08205619|PMID:08523464|PMID:08774330|PMID:09060904|PMID:09440709|PMID:09822100|PMID:10400910|PMID:11606294|PMID:11968089|PMID:12473556|PMID:14734051|PMID:15000344|PMID:16014439|PMID:16504640|PMID:17576681|PMID:18403758|PMID:18533079|PMID:19035361|PMID:20159828|PMID:21109227|PMID:21239446|PMID:21295541|PMID:21310275|PMID:21320446|PMID:21376702|PMID:22112859|PMID:22155441|PMID:22187526|PMID:22462493|PMID:22789852|PMID:22794249|PMID:22958901|PMID:23204897|PMID:23674513|PMID:23700264|PMID:23861362|PMID:24033266|PMID:24183960|PMID:24503780|PMID:24793961|PMID:25031304|PMID:25326635|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25548289|PMID:25607779|PMID:25611685|PMID:25741868|PMID:26936621|PMID:27177193|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28301460|PMID:28356264|PMID:28359939|PMID:28408708|PMID:28492532|PMID:28615295|PMID:28790153|PMID:29024827|PMID:29121657|PMID:29192238|PMID:29517769|PMID:29760186|PMID:30165862|PMID:31270709|PMID:31513939|PMID:32880476|PMID:33495597|PMID:33673806|PMID:34008892|PMID:7729014|PMID:7898523|PMID:8205619|PMID:8523464|PMID:9060904|PMID:9400381|PMID:9440709|PMID:9536098|PMID:9822100 8710882 Tpm1 tropomyosin 1 gene DOID:0050700 cardiomyopathy ISO RGD:737098 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:07729014|PMID:07898523|PMID:08205619|PMID:08523464|PMID:08774330|PMID:09060904|PMID:09440709|PMID:09822100|PMID:10400910|PMID:10900175|PMID:11606294|PMID:11968089|PMID:12473556|PMID:14734051|PMID:15000344|PMID:16014439|PMID:16504640|PMID:17576681|PMID:18403758|PMID:18533079|PMID:19035361|PMID:20159828|PMID:20215591|PMID:21109227|PMID:21239446|PMID:21295541|PMID:21320446|PMID:21376702|PMID:22112859|PMID:22155441|PMID:22187526|PMID:22462493|PMID:22789852|PMID:22794249|PMID:22958901|PMID:23147248|PMID:23204897|PMID:23283745|PMID:23674513|PMID:23700264|PMID:23861362|PMID:24033266|PMID:24183960|PMID:24503780|PMID:24793961|PMID:25031304|PMID:25326635|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25548289|PMID:25607779|PMID:25611685|PMID:25741868|PMID:26936621|PMID:27177193|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28301460|PMID:28356264|PMID:28359939|PMID:28408708|PMID:28492532|PMID:28615295|PMID:28790153|PMID:29024827|PMID:29121657|PMID:29192238|PMID:29517769|PMID:29760186|PMID:29907873|PMID:30165862|PMID:30240712|PMID:30297972|PMID:30847666|PMID:31270709|PMID:31513939|PMID:32880476|PMID:33495597|PMID:33673806|PMID:34008892|PMID:7729014|PMID:7898523|PMID:8205619|PMID:8523464|PMID:9060904|PMID:9245729|PMID:9400381|PMID:9440709|PMID:9536098|PMID:9822100 8710882 Tpm1 tropomyosin 1 gene DOID:0050700 cardiomyopathy ISO RGD:737098 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:07729014|PMID:07898523|PMID:08205619|PMID:08523464|PMID:08774330|PMID:09060904|PMID:09440709|PMID:09822100|PMID:10400910|PMID:10900175|PMID:11606294|PMID:11968089|PMID:12473556|PMID:12858563|PMID:12860912|PMID:14734051|PMID:15000344|PMID:16005017|PMID:16014439|PMID:16365313|PMID:16504640|PMID:17576681|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18533079|PMID:19035361|PMID:20031602|PMID:20159828|PMID:20215591|PMID:20965760|PMID:21109227|PMID:21239446|PMID:21295541|PMID:21310275|PMID:21320446|PMID:21376702|PMID:21551322|PMID:21835320|PMID:22112859|PMID:22155441|PMID:22187526|PMID:22462493|PMID:22789852|PMID:22794249|PMID:22958901|PMID:23071391|PMID:23147248|PMID:23204897|PMID:23283745|PMID:23396983|PMID:23508784|PMID:23674513|PMID:23700264|PMID:23771913|PMID:23861362|PMID:24033266|PMID:24183960|PMID:24503780|PMID:24510615|PMID:24793961|PMID:25031304|PMID:25241052|PMID:25326635|PMID:25342278|PMID:25351510|PMID:25389285|PMID:25524337|PMID:25548289|PMID:25607779|PMID:25611685|PMID:25741868|PMID:26274955|PMID:26936621|PMID:26960954|PMID:27177193|PMID:27376658|PMID:27532257|PMID:27600940|PMID:27639548|PMID:28138913|PMID:28356264|PMID:28359939|PMID:28408708|PMID:28492532|PMID:28615295|PMID:28771489|PMID:28790153|PMID:28797094|PMID:28986452|PMID:29024827|PMID:29105867|PMID:29121657|PMID:29447731|PMID:29517769|PMID:29760186|PMID:29907873|PMID:30240712|PMID:30297972|PMID:30513141|PMID:30847666|PMID:31006259|PMID:31270709|PMID:31308319|PMID:31513939|PMID:32731933|PMID:32746448|PMID:32880476|PMID:32882290|PMID:33297573|PMID:33495596|PMID:33495597|PMID:33642254|PMID:33673806|PMID:33919104|PMID:34008892|PMID:34011823|PMID:34137518|PMID:34194005|PMID:34495297|PMID:34638741|PMID:35470680|PMID:35626289|PMID:36555368|PMID:37498360|PMID:37904629|PMID:7729014|PMID:7898523|PMID:8205619|PMID:8523464|PMID:9060904|PMID:9245729|PMID:9400381|PMID:9440709|PMID:9536098|PMID:9822100 8710882 Tpm1 tropomyosin 1 gene DOID:0050700 cardiomyopathy ISO RGD:737098 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:07729014|PMID:07898523|PMID:08205619|PMID:08523464|PMID:08774330|PMID:09060904|PMID:09440709|PMID:09822100|PMID:10400910|PMID:10900175|PMID:11606294|PMID:11968089|PMID:12473556|PMID:12858563|PMID:12860912|PMID:14734051|PMID:15000344|PMID:16005017|PMID:16014439|PMID:16365313|PMID:16504640|PMID:17576681|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18533079|PMID:19035361|PMID:20031602|PMID:20159828|PMID:20215591|PMID:20965760|PMID:21109227|PMID:21239446|PMID:21295541|PMID:21310275|PMID:21320446|PMID:21376702|PMID:21551322|PMID:21835320|PMID:22112859|PMID:22155441|PMID:22187526|PMID:22462493|PMID:22789852|PMID:22794249|PMID:22958901|PMID:23071391|PMID:23147248|PMID:23204897|PMID:23283745|PMID:23396983|PMID:23508784|PMID:23674513|PMID:23700264|PMID:23771913|PMID:23861362|PMID:24033266|PMID:24183960|PMID:24503780|PMID:24510615|PMID:24793961|PMID:25031304|PMID:25241052|PMID:25326635|PMID:25342278|PMID:25351510|PMID:25389285|PMID:25524337|PMID:25548289|PMID:25607779|PMID:25611685|PMID:25741868|PMID:26274955|PMID:26936621|PMID:26960954|PMID:27177193|PMID:27376658|PMID:27532257|PMID:27600940|PMID:27639548|PMID:28138913|PMID:28301460|PMID:28356264|PMID:28359939|PMID:28408708|PMID:28492532|PMID:28615295|PMID:28771489|PMID:28790153|PMID:28797094|PMID:28986452|PMID:29024827|PMID:29105867|PMID:29121657|PMID:29447731|PMID:29517769|PMID:29760186|PMID:29907873|PMID:30240712|PMID:30297972|PMID:30513141|PMID:30847666|PMID:31006259|PMID:31270709|PMID:31308319|PMID:31513939|PMID:32731933|PMID:32746448|PMID:32880476|PMID:32882290|PMID:33029862|PMID:33297573|PMID:33495596|PMID:33495597|PMID:33642254|PMID:33673806|PMID:33919104|PMID:34008892|PMID:34011823|PMID:34137518|PMID:34194005|PMID:34319370|PMID:34495297|PMID:34638741|PMID:35026164|PMID:35470680|PMID:35626289|PMID:35917600|PMID:36555368|PMID:37498360|PMID:37652022|PMID:37904629|PMID:7729014|PMID:7898523|PMID:8205619|PMID:8523464|PMID:9060904|PMID:9245729|PMID:9400381|PMID:9440709|PMID:9536098|PMID:9822100 8710882 Tpm1 tropomyosin 1 gene DOID:0060480 left ventricular noncompaction ISO RGD:737098 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction PMID:22958901|PMID:24033266|PMID:25741868|PMID:27532257|PMID:28492532|PMID:32746448|PMID:35470680 8710882 Tpm1 tropomyosin 1 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:737098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:24033266|PMID:25741868|PMID:28492532 8710882 Tpm1 tropomyosin 1 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:737098 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:07729014|PMID:07898523|PMID:08205619|PMID:08523464|PMID:08774330|PMID:09060904|PMID:09440709|PMID:09822100|PMID:10400910|PMID:10900175|PMID:11606294|PMID:11968089|PMID:12473556|PMID:12858563|PMID:12860912|PMID:14734051|PMID:15000344|PMID:15519027|PMID:16005017|PMID:16014439|PMID:16365313|PMID:16504640|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18533079|PMID:19035361|PMID:20031602|PMID:20965760|PMID:21239446|PMID:21295541|PMID:21310275|PMID:21320446|PMID:21376702|PMID:21551322|PMID:21835320|PMID:22112859|PMID:22155441|PMID:22187526|PMID:22462493|PMID:22789852|PMID:22794249|PMID:23071391|PMID:23204897|PMID:23299917|PMID:23396983|PMID:23508784|PMID:23700264|PMID:23771913|PMID:24033266|PMID:24510615|PMID:24793961|PMID:25241052|PMID:25351510|PMID:25524337|PMID:25548289|PMID:25607779|PMID:25611685|PMID:25741868|PMID:26936621|PMID:26960954|PMID:27376658|PMID:27532257|PMID:27600940|PMID:27639548|PMID:27983818|PMID:28138913|PMID:28492532|PMID:28615295|PMID:28771489|PMID:28797094|PMID:28986452|PMID:29105867|PMID:29121657|PMID:29760186|PMID:30240712|PMID:30847666|PMID:31006259|PMID:31270709|PMID:31308319|PMID:32731933|PMID:32882290|PMID:33297573|PMID:33495596|PMID:33495597|PMID:33642254|PMID:33673806|PMID:33919104|PMID:34011823|PMID:34319370|PMID:34638741|PMID:35626289|PMID:35917600|PMID:36555368|PMID:37498360|PMID:37652022|PMID:7729014|PMID:7898523|PMID:8205619|PMID:8523464|PMID:9060904|PMID:9245729|PMID:9440709|PMID:9822100 8710882 Tpm1 tropomyosin 1 gene DOID:0110106 atrial heart septal defect 1 ISO RGD:737098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial septal defect 1 PMID:28359939 8710882 Tpm1 tropomyosin 1 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:737098 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:07729014|PMID:07898523|PMID:08205619|PMID:08523464|PMID:08774330|PMID:09060904|PMID:09440709|PMID:09822100|PMID:10400910|PMID:10900175|PMID:11606294|PMID:11968089|PMID:12473556|PMID:12858563|PMID:12860912|PMID:14734051|PMID:15000344|PMID:16005017|PMID:16014439|PMID:16365313|PMID:16504640|PMID:17576681|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18533079|PMID:19035361|PMID:20031602|PMID:20965760|PMID:21109227|PMID:21239446|PMID:21295541|PMID:21310275|PMID:21320446|PMID:21376702|PMID:21551322|PMID:21835320|PMID:22112859|PMID:22155441|PMID:22187526|PMID:22462493|PMID:22789852|PMID:22794249|PMID:23071391|PMID:23204897|PMID:23396983|PMID:23508784|PMID:23700264|PMID:23771913|PMID:24033266|PMID:24510615|PMID:24793961|PMID:25241052|PMID:25351510|PMID:25524337|PMID:25548289|PMID:25607779|PMID:25611685|PMID:25741868|PMID:26936621|PMID:26960954|PMID:27376658|PMID:27532257|PMID:27600940|PMID:27639548|PMID:28138913|PMID:28492532|PMID:28615295|PMID:28771489|PMID:28790153|PMID:28797094|PMID:28986452|PMID:29105867|PMID:29121657|PMID:29760186|PMID:30240712|PMID:30847666|PMID:31006259|PMID:31270709|PMID:31308319|PMID:32731933|PMID:32882290|PMID:33297573|PMID:33495596|PMID:33495597|PMID:33642254|PMID:33919104|PMID:34011823|PMID:34319370|PMID:34638741|PMID:35626289|PMID:35917600|PMID:36555368|PMID:37498360|PMID:37652022|PMID:7729014|PMID:7898523|PMID:8205619|PMID:8523464|PMID:9060904|PMID:9245729|PMID:9440709|PMID:9536098|PMID:9822100 8710882 Tpm1 tropomyosin 1 gene DOID:0110309 hypertrophic cardiomyopathy 3 ISO RGD:737098 D RGD:7240710 20180130 OMIM 8710882 Tpm1 tropomyosin 1 gene DOID:0110309 hypertrophic cardiomyopathy 3 ISO RGD:737098 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 3 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 3 PMID:07729014|PMID:07898523|PMID:08205619|PMID:08523464|PMID:08774330|PMID:09060904|PMID:09440709|PMID:09822100|PMID:10400910|PMID:10900175|PMID:11044437|PMID:11136687|PMID:11603924|PMID:11606294|PMID:11968089|PMID:12006676|PMID:12473556|PMID:12858563|PMID:12860912|PMID:12900417|PMID:14734051|PMID:15000344|PMID:15059934|PMID:15479242|PMID:16005017|PMID:16014439|PMID:16365313|PMID:16504640|PMID:17576681|PMID:18403758|PMID:18409188|PMID:18414213|PMID:19035361|PMID:20031602|PMID:20117437|PMID:20161772|PMID:21109227|PMID:21239446|PMID:21295541|PMID:21310275|PMID:21320446|PMID:21376702|PMID:21551322|PMID:22112859|PMID:22155441|PMID:22187526|PMID:22462493|PMID:22789852|PMID:22794249|PMID:23147248|PMID:23396983|PMID:23539503|PMID:23771913|PMID:24033266|PMID:24170035|PMID:24183960|PMID:24503780|PMID:24510615|PMID:25241052|PMID:25242052|PMID:25326635|PMID:25351510|PMID:25389285|PMID:25524337|PMID:25525159|PMID:25548289|PMID:25611685|PMID:25741868|PMID:26274955|PMID:26960954|PMID:27177193|PMID:27376658|PMID:27532257|PMID:27639548|PMID:28138913|PMID:28301460|PMID:28359939|PMID:28408708|PMID:28492532|PMID:28600229|PMID:28603979|PMID:28615295|PMID:28771489|PMID:28790153|PMID:28797094|PMID:28986452|PMID:29024827|PMID:29105867|PMID:29398688|PMID:29496559|PMID:29517769|PMID:29540472|PMID:29760186|PMID:29907873|PMID:30022097|PMID:30871747|PMID:31006259|PMID:31179125|PMID:31270709|PMID:31983221|PMID:32731933|PMID:32880476|PMID:32882290|PMID:33029862|PMID:33297573|PMID:33495596|PMID:33495597|PMID:33642254|PMID:33919104|PMID:34194005|PMID:34319370|PMID:34486814|PMID:34638741|PMID:35026164|PMID:35917600|PMID:37498360|PMID:37652022|PMID:7729014|PMID:7898523|PMID:8205619|PMID:8523464|PMID:8774330|PMID:9060904|PMID:9245729|PMID:9400381|PMID:9440709|PMID:9536098|PMID:9822100 8710882 Tpm1 tropomyosin 1 gene DOID:0110311 hypertrophic cardiomyopathy 21 ISO RGD:737098 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 21 PMID:24033266|PMID:25741868|PMID:27532257|PMID:28492532|PMID:33673806|PMID:34495297 8710882 Tpm1 tropomyosin 1 gene DOID:0110457 dilated cardiomyopathy 1Y ISO RGD:737098 D RGD:7240710 20180130 OMIM 8710882 Tpm1 tropomyosin 1 gene DOID:0110457 dilated cardiomyopathy 1Y ISO RGD:737098 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1Y | ClinVar Annotator: match by term: Left ventricular noncompaction 9 | ClinVar Annotator: match by term: TPM1-related condition PMID:07729014|PMID:07898523|PMID:08205619|PMID:08523464|PMID:08774330|PMID:09060904|PMID:09440709|PMID:09822100|PMID:10400910|PMID:10900175|PMID:11273725|PMID:11606294|PMID:11968089|PMID:12473556|PMID:12858563|PMID:12860912|PMID:14734051|PMID:15000344|PMID:15923195|PMID:16005017|PMID:16014439|PMID:16043485|PMID:16365313|PMID:16504640|PMID:17556658|PMID:17576681|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18533079|PMID:19035361|PMID:19222994|PMID:19646950|PMID:20031602|PMID:20530761|PMID:20965760|PMID:21109227|PMID:21239446|PMID:21295541|PMID:21310275|PMID:21320446|PMID:21376702|PMID:21551322|PMID:21741356|PMID:21835320|PMID:22112859|PMID:22155441|PMID:22187526|PMID:22462493|PMID:22789852|PMID:22794249|PMID:23071391|PMID:23077624|PMID:23147248|PMID:23204897|PMID:23349452|PMID:23396983|PMID:23508784|PMID:23539503|PMID:23700264|PMID:23771913|PMID:23861362|PMID:24033266|PMID:24183960|PMID:24503780|PMID:24510615|PMID:24691700|PMID:24793961|PMID:25241052|PMID:25326635|PMID:25351510|PMID:25389285|PMID:25520664|PMID:25524337|PMID:25548289|PMID:25607779|PMID:25611685|PMID:25741868|PMID:26274955|PMID:26688388|PMID:26899768|PMID:26936621|PMID:26960954|PMID:27177193|PMID:27376658|PMID:27532257|PMID:27600940|PMID:27639548|PMID:27878731|PMID:28138913|PMID:28359939|PMID:28408708|PMID:28492532|PMID:28615295|PMID:28771489|PMID:28790153|PMID:28797094|PMID:28798025|PMID:28986452|PMID:29024827|PMID:29105867|PMID:29121657|PMID:29447731|PMID:29517769|PMID:29644095|PMID:29760186|PMID:29907873|PMID:30188508|PMID:30240712|PMID:30371277|PMID:30847666|PMID:31006259|PMID:31090107|PMID:31270709|PMID:31308319|PMID:31983221|PMID:32600061|PMID:32618513|PMID:32731933|PMID:32746448|PMID:32880476|PMID:32882290|PMID:33297573|PMID:33495596|PMID:33495597|PMID:33642254|PMID:33888711|PMID:33919104|PMID:34008892|PMID:34011823|PMID:34036930|PMID:34076677|PMID:34194005|PMID:34319370|PMID:34638741|PMID:34935411|PMID:35626289|PMID:35917600|PMID:36178741|PMID:36252119|PMID:36555368|PMID:37342443|PMID:37498360|PMID:37652022|PMID:7729014|PMID:7898523|PMID:8205619|PMID:8523464|PMID:9060904|PMID:9245729|PMID:9400381|PMID:9440709|PMID:9536098|PMID:9822100 8710882 Tpm1 tropomyosin 1 gene DOID:10763 hypertension ISO RGD:737098 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22228705 8710882 Tpm1 tropomyosin 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:737098 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:07729014|PMID:07898523|PMID:08205619|PMID:08523464|PMID:08774330|PMID:09060904|PMID:09440709|PMID:09822100|PMID:10400910|PMID:10900175|PMID:11044437|PMID:11136687|PMID:11273725|PMID:11603924|PMID:11606294|PMID:11968089|PMID:12006676|PMID:12169652|PMID:12473556|PMID:12651045|PMID:12858563|PMID:12860912|PMID:12900417|PMID:14734051|PMID:15000344|PMID:15059934|PMID:15249230|PMID:15479242|PMID:15519027|PMID:15923195|PMID:16005017|PMID:16014439|PMID:16043485|PMID:16199547|PMID:16365313|PMID:16504640|PMID:17556658|PMID:17576681|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18533079|PMID:19035361|PMID:19222994|PMID:19646950|PMID:19659763|PMID:20031602|PMID:20117437|PMID:20159828|PMID:20161772|PMID:20215591|PMID:20530761|PMID:20965760|PMID:21109227|PMID:21239446|PMID:21295541|PMID:21310275|PMID:21320446|PMID:21376702|PMID:21454502|PMID:21483645|PMID:21551322|PMID:21642532|PMID:21741356|PMID:21835320|PMID:21839045|PMID:21840315|PMID:22112859|PMID:22155441|PMID:22187526|PMID:22462493|PMID:22464770|PMID:22789852|PMID:22794249|PMID:22958901|PMID:23071391|PMID:23077624|PMID:23147248|PMID:23204897|PMID:23283745|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23508784|PMID:23539503|PMID:23674513|PMID:23700264|PMID:23771913|PMID:23861362|PMID:24033266|PMID:24170035|PMID:24183960|PMID:24374033|PMID:24503780|PMID:24510615|PMID:24548721|PMID:24691700|PMID:24793961|PMID:25031304|PMID:25241052|PMID:25242052|PMID:25326635|PMID:25342278|PMID:25351510|PMID:25389285|PMID:25520664|PMID:25524337|PMID:25525159|PMID:25548289|PMID:25607779|PMID:25611685|PMID:25741868|PMID:26025024|PMID:26274955|PMID:26688388|PMID:26899768|PMID:26936621|PMID:26960954|PMID:27177193|PMID:27376658|PMID:27532257|PMID:27600940|PMID:27639548|PMID:27878731|PMID:27983818|PMID:28138913|PMID:28301460|PMID:28356264|PMID:28359939|PMID:28408708|PMID:28492532|PMID:28600229|PMID:28603979|PMID:28615295|PMID:28732641|PMID:28759816|PMID:28771489|PMID:28790153|PMID:28797094|PMID:28798025|PMID:28855170|PMID:28986452|PMID:29024827|PMID:29105867|PMID:29121657|PMID:29255176|PMID:29398688|PMID:29447731|PMID:29496559|PMID:29517769|PMID:29540472|PMID:29626422|PMID:29644095|PMID:29760186|PMID:29907873|PMID:30022097|PMID:30188508|PMID:30240712|PMID:30297972|PMID:30371277|PMID:30513141|PMID:30847666|PMID:30871747|PMID:30923642|PMID:31006259|PMID:31090107|PMID:31179125|PMID:31270709|PMID:31308319|PMID:31333075|PMID:31513939|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32183154|PMID:32600061|PMID:32618513|PMID:32731933|PMID:32746448|PMID:32830170|PMID:32880476|PMID:32882290|PMID:32969603|PMID:33020181|PMID:33029862|PMID:33082984|PMID:33297573|PMID:33495596|PMID:33495597|PMID:33642254|PMID:33673806|PMID:33888711|PMID:33906374|PMID:33919104|PMID:34008892|PMID:34011823|PMID:34036930|PMID:34076677|PMID:34137518|PMID:34194005|PMID:34319370|PMID:34486814|PMID:34495297|PMID:34540771|PMID:34638741|PMID:34834072|PMID:34935411|PMID:35026164|PMID:35470680|PMID:35626289|PMID:35917600|PMID:36178741|PMID:36252119|PMID:36555368|PMID:36739943|PMID:37342443|PMID:37498360|PMID:37652022|PMID:37904629|PMID:38836950|PMID:38874371|PMID:7729014|PMID:7898523|PMID:8205619|PMID:8523464|PMID:8774330|PMID:9060904|PMID:9245729|PMID:9400381|PMID:9440709|PMID:9536098|PMID:9822100 8710882 Tpm1 tropomyosin 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:737098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11106625|PMID:18533079|PMID:20117437|PMID:20159828|PMID:20215591|PMID:20530761|PMID:21310275|PMID:21483645|PMID:23539503|PMID:23674513|PMID:24033266|PMID:25031304|PMID:25241052|PMID:25242052|PMID:25326635|PMID:25525159|PMID:25548289|PMID:25741868|PMID:26899768|PMID:27177193|PMID:27532257|PMID:28359939|PMID:28492532|PMID:28600229|PMID:28603979|PMID:29024827|PMID:29517769|PMID:31333075|PMID:31568572 8710882 Tpm1 tropomyosin 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:737098 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11106625|PMID:18533079|PMID:20117437|PMID:20159828|PMID:20215591|PMID:20530761|PMID:21310275|PMID:21483645|PMID:23508784|PMID:23539503|PMID:23674513|PMID:24033266|PMID:24503780|PMID:24691700|PMID:25031304|PMID:25241052|PMID:25242052|PMID:25326635|PMID:25525159|PMID:25548289|PMID:25611685|PMID:25741868|PMID:26899768|PMID:27177193|PMID:27532257|PMID:28359939|PMID:28492532|PMID:28600229|PMID:28603979|PMID:28798025|PMID:29024827|PMID:29447731|PMID:29496559|PMID:29517769|PMID:29644095|PMID:30188508|PMID:30240712|PMID:30297972|PMID:30513141|PMID:30847666|PMID:30923642|PMID:31270709|PMID:31333075|PMID:31568572|PMID:32600061|PMID:33888711|PMID:33906374|PMID:34036930|PMID:34076677|PMID:34137518|PMID:34834072|PMID:34935411|PMID:36178741|PMID:36252119|PMID:37342443|PMID:37904629|PMID:9400381 8710882 Tpm1 tropomyosin 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:737098 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11106625|PMID:18533079|PMID:20117437|PMID:20159828|PMID:20215591|PMID:20530761|PMID:21310275|PMID:21483645|PMID:23508784|PMID:23539503|PMID:23674513|PMID:24033266|PMID:24503780|PMID:24691700|PMID:25031304|PMID:25241052|PMID:25242052|PMID:25326635|PMID:25525159|PMID:25548289|PMID:25611685|PMID:25741868|PMID:26899768|PMID:27177193|PMID:27532257|PMID:28359939|PMID:28492532|PMID:28600229|PMID:28603979|PMID:28798025|PMID:29024827|PMID:29447731|PMID:29496559|PMID:29517769|PMID:29644095|PMID:30188508|PMID:30240712|PMID:30297972|PMID:30371277|PMID:30513141|PMID:30847666|PMID:30923642|PMID:31270709|PMID:31333075|PMID:31568572|PMID:32600061|PMID:33888711|PMID:33906374|PMID:34036930|PMID:34076677|PMID:34137518|PMID:34834072|PMID:34935411|PMID:36178741|PMID:36252119|PMID:37342443|PMID:37904629|PMID:9400381 8710882 Tpm1 tropomyosin 1 gene DOID:2717 Bloom syndrome ISO RGD:737098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8710882 Tpm1 tropomyosin 1 gene DOID:2843 long QT syndrome ISO RGD:737098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:24033266|PMID:25741868 8710882 Tpm1 tropomyosin 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:737098 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 8710882 Tpm1 tropomyosin 1 gene DOID:6419 tetralogy of Fallot ISO RGD:737098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tetralogy of Fallot PMID:28359939 8710882 Tpm1 tropomyosin 1 gene DOID:9000058 Keloid ISO RGD:737098 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 8710882 Tpm1 tropomyosin 1 gene DOID:9000117 Esophageal Neoplasms ISO RGD:737098 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15986332 8710882 Tpm1 tropomyosin 1 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:737098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:25741868|PMID:28492532|PMID:31333075|PMID:31568572|PMID:34540771 8710882 Tpm1 tropomyosin 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737098 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8710882 Tpm1 tropomyosin 1 gene DOID:9003604 Pulmonary Atresia with Intact Ventricular Septum ISO RGD:737098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary atresia with intact ventricular septum PMID:28359939 8710882 Tpm1 tropomyosin 1 gene DOID:9005141 Ventricular Tachycardia ISO RGD:737098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Effort-induced polymorphic ventricular tachycardias 8710882 Tpm1 tropomyosin 1 gene DOID:9256 colorectal cancer ISO RGD:737098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8710924 Schip1 schwannomin interacting protein 1 gene DOID:4586 familial meningioma ISO RGD:1320587 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Familial meningioma PMID:25741868 8710978 Myo15a myosin XVA gene DOID:0050563 nonsyndromic deafness ISO RGD:1343693 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:11735029|PMID:17546645|PMID:19274735|PMID:20642360|PMID:23208854|PMID:24033266|PMID:24123792|PMID:24875298|PMID:25741868|PMID:26969326|PMID:27068579|PMID:27734841|PMID:27870113|PMID:28000701|PMID:28492532|PMID:30311386|PMID:31589614|PMID:31980526|PMID:32747562|PMID:33398081|PMID:35346193|PMID:7704031|PMID:9603736 8710978 Myo15a myosin XVA gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1343693 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:16199547|PMID:17546645|PMID:17576681|PMID:19309289|PMID:25373420|PMID:25741868|PMID:26969326|PMID:27375115|PMID:27573290|PMID:28492532|PMID:30303587|PMID:30311386|PMID:30953472|PMID:35346193|PMID:35440622|PMID:35802133|PMID:36633841|PMID:9536098 8710978 Myo15a myosin XVA gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:1343693 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube syndrome PMID:20188345|PMID:28492532 8710978 Myo15a myosin XVA gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1343693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 8710978 Myo15a myosin XVA gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1343693 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 8710978 Myo15a myosin XVA gene DOID:0110488 autosomal recessive nonsyndromic deafness 3 ISO RGD:1343693 D RGD:7240710 20180130 OMIM 8710978 Myo15a myosin XVA gene DOID:0110488 autosomal recessive nonsyndromic deafness 3 ISO RGD:1343693 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 3 | ClinVar Annotator: match by term: Deafness, autosomal recessive 3 | ClinVar Annotator: match by term: MYO15A-related condition | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 3 PMID:10552926|PMID:11735029|PMID:12408074|PMID:16199547|PMID:17546645|PMID:17576681|PMID:17851452|PMID:17853461|PMID:18381613|PMID:19274735|PMID:19888295|PMID:20505086|PMID:20642360|PMID:21917145|PMID:22245518|PMID:22736430|PMID:22903915|PMID:23208854|PMID:23767834|PMID:23804846|PMID:23865914|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24123792|PMID:24130743|PMID:24206587|PMID:24498627|PMID:24853665|PMID:24875298|PMID:24949729|PMID:25262649|PMID:25373420|PMID:2574186|PMID:25741868|PMID:25788563|PMID:25792667|PMID:26011067|PMID:26075876|PMID:26226137|PMID:26242193|PMID:26302205|PMID:26399936|PMID:26445815|PMID:26467025|PMID:26561413|PMID:26633542|PMID:26763877|PMID:26810297|PMID:26915297|PMID:26969326|PMID:27068579|PMID:27344577|PMID:27375115|PMID:27436265|PMID:27573290|PMID:27635202|PMID:27734841|PMID:27870113|PMID:28000701|PMID:28383030|PMID:28390610|PMID:28492532|PMID:29196752|PMID:29482514|PMID:29692870|PMID:29907799|PMID:29986705|PMID:30096381|PMID:30139988|PMID:30303587|PMID:30311386|PMID:30579064|PMID:30622556|PMID:30682115|PMID:30733538|PMID:30828794|PMID:30896630|PMID:30953472|PMID:31053783|PMID:31130284|PMID:31379920|PMID:31389194|PMID:31579092|PMID:31581539|PMID:31827275|PMID:31850270|PMID:31980526|PMID:31992338|PMID:32279305|PMID:32387678|PMID:32617096|PMID:32623615|PMID:32658404|PMID:32747562|PMID:32802042|PMID:32860223|PMID:33095980|PMID:33111345|PMID:33187236|PMID:33208113|PMID:33297549|PMID:33398081|PMID:33524517|PMID:33597575|PMID:33879512|PMID:34062854|PMID:34265623|PMID:34325055|PMID:34374074|PMID:34388253|PMID:34416374|PMID:34599368|PMID:34733312|PMID:34744965|PMID:34795337|PMID:34974475|PMID:35052694|PMID:35062939|PMID:35346193|PMID:35440622|PMID:35580552|PMID:35640668|PMID:35802133|PMID:35939872|PMID:35982127|PMID:36217262|PMID:36401330|PMID:36472766|PMID:36504663|PMID:36568381|PMID:36570450|PMID:36597107|PMID:36633841|PMID:37107638|PMID:37811145|PMID:7616538|PMID:7704031|PMID:9536098|PMID:9603736 8710978 Myo15a myosin XVA gene DOID:0110535 autosomal recessive nonsyndromic deafness 9 ISO RGD:1343693 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 9 PMID:25741868|PMID:28492532|PMID:28964305 8710978 Myo15a myosin XVA gene DOID:0110980 Joubert syndrome 1 ISO RGD:1343693 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 8710978 Myo15a myosin XVA gene DOID:10003 sensorineural hearing loss ISO RGD:1343693 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Congenital sensorineural hearing impairment PMID:17546645|PMID:17576681|PMID:24033266|PMID:24875298|PMID:25741868|PMID:26969326|PMID:28492532|PMID:32860223|PMID:9536098 8710978 Myo15a myosin XVA gene DOID:10983 Alport syndrome ISO RGD:1343693 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Alport syndrome PMID:28492532|PMID:30311386 8710978 Myo15a myosin XVA gene DOID:12849 autistic disorder ISO RGD:1343693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8710978 Myo15a myosin XVA gene DOID:1432 blindness induces ISO RGD:1561873 D RGD:9068941 20210910 RGD DNA:missense mutation:cds:exon 56 T>C, p.Leu3157Pro (rat) PMID:21479269|REF_RGD_ID:150429616 8710978 Myo15a myosin XVA gene DOID:1432 blindness induces ISO XCO:0000181 D RGD:9068941 20210917 RGD compared to LEW/Ztm PMID:21479269|REF_RGD_ID:150429616 8710978 Myo15a myosin XVA gene DOID:1826 epilepsy ISO RGD:1343693 D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Seizure PMID:24033266|PMID:25741868|PMID:26445815|PMID:27375115|PMID:28492532 8710978 Myo15a myosin XVA gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1343693 D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Agenesis of hemidiaphragm PMID:24033266|PMID:25741868|PMID:26445815|PMID:27375115|PMID:28492532 8710978 Myo15a myosin XVA gene DOID:630 genetic disease ISO RGD:1343693 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15654330|PMID:17546645|PMID:17851452|PMID:21917145|PMID:23767834|PMID:24033266|PMID:2574186|PMID:25741868|PMID:25792667|PMID:26242193|PMID:26467025|PMID:27375115|PMID:27870113|PMID:28492532|PMID:29178603|PMID:30311386|PMID:30622556|PMID:30953472|PMID:31827275|PMID:32747562|PMID:33398081|PMID:33784549|PMID:34519870|PMID:7616538|PMID:7704031 8710978 Myo15a myosin XVA gene DOID:674 cleft palate ISO RGD:1343693 D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Cleft palate PMID:24033266|PMID:25741868|PMID:26445815|PMID:27375115|PMID:28492532 8710978 Myo15a myosin XVA gene DOID:9004538 Hearing Loss ISO RGD:1343693 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:16199547|PMID:17546645|PMID:17576681|PMID:17853461|PMID:19309289|PMID:20505086|PMID:21917145|PMID:23208854|PMID:23767834|PMID:24033266|PMID:24123792|PMID:24875298|PMID:25373420|PMID:2574186|PMID:25741868|PMID:25792667|PMID:26242193|PMID:26969326|PMID:27375115|PMID:27573290|PMID:27870113|PMID:28000701|PMID:28492532|PMID:30303587|PMID:30311386|PMID:30622556|PMID:30953472|PMID:31379920|PMID:31827275|PMID:31980526|PMID:32747562|PMID:33398081|PMID:33524517|PMID:35346193|PMID:35440622|PMID:35802133|PMID:36633841|PMID:7616538|PMID:7704031|PMID:9536098 8710978 Myo15a myosin XVA gene DOID:9007233 Deafness, with Smith-Magenis Syndrome ISO RGD:1343693 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Deafness, with smith-magenis syndrome PMID:11735029|PMID:17546645|PMID:19274735|PMID:24033266|PMID:25741868|PMID:28492532 8710978 Myo15a myosin XVA gene DOID:9008086 Developmental Disabilities ISO RGD:1343693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:24033266|PMID:25741868|PMID:26445815|PMID:27375115|PMID:28492532 8711048 Tollip toll interacting protein gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1312257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia 8711048 Tollip toll interacting protein gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1312257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8711048 Tollip toll interacting protein gene DOID:0060971 interstitial lung disease 2 ISO RGD:1312257 D RGD:8554872 20240702 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 8711048 Tollip toll interacting protein gene DOID:0080600 COVID-19 ISO RGD:1312257 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Susceptibility to severe coronavirus disease (COVID-19) 8711048 Tollip toll interacting protein gene DOID:0080773 delta beta-thalassemia ISO RGD:1312257 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 8711048 Tollip toll interacting protein gene DOID:0111969 immunodeficiency 39 ISO RGD:1312257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 8711048 Tollip toll interacting protein gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1312257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8711048 Tollip toll interacting protein gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1312257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 8711048 Tollip toll interacting protein gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1312257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic obstructive pulmonary disease 8711048 Tollip toll interacting protein gene DOID:5572 Beckwith-Wiedemann syndrome ISO RGD:1312257 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome PMID:21910219|PMID:25427884|PMID:28492532 8711048 Tollip toll interacting protein gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1312257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 8711063 Slc4a1ap solute carrier family 4 member 1 adaptor protein gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1316058 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome PMID:28492532 8711089 Angpt2 angiopoietin 2 gene DOID:0001816 angiosarcoma ISO RGD:730844 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17569031 8711089 Angpt2 angiopoietin 2 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:730844 D RGD:9068941 20220811 RGD protein:increased expression:oral mucosa (human) PMID:26044849|REF_RGD_ID:153323290 8711089 Angpt2 angiopoietin 2 gene DOID:0050876 Caroli disease ISO RGD:621861 D RGD:9068941 20200609 RGD protein:increased expression:bile duct (rat) PMID:16628643|REF_RGD_ID:2314213 8711089 Angpt2 angiopoietin 2 gene DOID:0070285 primary autosomal recessive microcephaly 1 ISO RGD:730844 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Microcephaly 1, primary, autosomal recessive PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32714618|PMID:34670123 8711089 Angpt2 angiopoietin 2 gene DOID:0070296 primary autosomal recessive microcephaly ISO RGD:730844 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Autosomal recessive primary microcephaly PMID:25741868|PMID:28492532|PMID:34670123 8711089 Angpt2 angiopoietin 2 gene DOID:0080600 COVID-19 severity ISO RGD:730844 D RGD:9068941 20200626 RGD protein:increased expression:plasma (human) PMID:32458111|REF_RGD_ID:32716385 8711089 Angpt2 angiopoietin 2 gene DOID:1059 intellectual disability ISO RGD:730844 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532|PMID:34670123 8711089 Angpt2 angiopoietin 2 gene DOID:10762 portal hypertension ISO RGD:621861 D RGD:9068941 20200609 RGD PMID:19070926|REF_RGD_ID:2314171 8711089 Angpt2 angiopoietin 2 gene DOID:10808 gastric ulcer ISO RGD:621861 D RGD:9068941 20200609 RGD protein:increased expression:stomach (rat) PMID:12768384|REF_RGD_ID:1601496 8711089 Angpt2 angiopoietin 2 gene DOID:13025 retinopathy of prematurity ISO RGD:1550503 D RGD:9068941 20200609 RGD mRNA:increased expression:retina (mouse) PMID:17065527|REF_RGD_ID:2314207 8711089 Angpt2 angiopoietin 2 gene DOID:13025 retinopathy of prematurity ISO RGD:621861 D RGD:9068941 20200609 RGD protein:increased expression:retina (rat) PMID:17692314|REF_RGD_ID:2314205 8711089 Angpt2 angiopoietin 2 gene DOID:13025 retinopathy of prematurity susceptibility ISO RGD:621861 D RGD:9068941 20200609 RGD PMID:17692314|REF_RGD_ID:2314205 8711089 Angpt2 angiopoietin 2 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:621861 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:glomerulus (rat) PMID:16628643|REF_RGD_ID:2314213 8711089 Angpt2 angiopoietin 2 gene DOID:2316 brain ischemia ISO RGD:621861 D RGD:9068941 20200609 RGD PMID:17494864|REF_RGD_ID:2314206 8711089 Angpt2 angiopoietin 2 gene DOID:2527 nephrosis ISO RGD:621861 D RGD:9068941 20200609 RGD PMID:18929866|REF_RGD_ID:2314177 8711089 Angpt2 angiopoietin 2 gene DOID:2527 nephrosis ISO RGD:621861 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney (rat) PMID:18929864|REF_RGD_ID:2314178 8711089 Angpt2 angiopoietin 2 gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:730844 D RGD:9068941 20200609 RGD PMID:15705099|REF_RGD_ID:2293853 8711089 Angpt2 angiopoietin 2 gene DOID:2870 endometrial adenocarcinoma ISO RGD:730844 D RGD:9068941 20200609 RGD protein:increased expression:endometrium epithelium PMID:17295646|REF_RGD_ID:2293852 8711089 Angpt2 angiopoietin 2 gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:621861 D RGD:9068941 20200609 RGD PMID:16014048|REF_RGD_ID:2314222 8711089 Angpt2 angiopoietin 2 gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:621861 D RGD:9068941 20200609 RGD protein:increased expression:glomerulus (rat) PMID:18272601|REF_RGD_ID:2314193 8711089 Angpt2 angiopoietin 2 gene DOID:299 adenocarcinoma ISO RGD:621861 D RGD:9068941 20200609 RGD protein:increased expression:cerebrum, blood vessels (rat) PMID:10373119|REF_RGD_ID:2314294 8711089 Angpt2 angiopoietin 2 gene DOID:3070 high grade glioma ISO RGD:621861 D RGD:9068941 20200609 RGD protein:increased expression:brain (rat) PMID:18615861|REF_RGD_ID:2314189 8711089 Angpt2 angiopoietin 2 gene DOID:3247 rhabdomyosarcoma ISO RGD:621861 D RGD:9068941 20200609 RGD protein:increased expression:blood vessel (rat) PMID:17849463|REF_RGD_ID:2314204 8711089 Angpt2 angiopoietin 2 gene DOID:326 ischemia ISO RGD:621861 D RGD:9068941 20200609 RGD PMID:19672036|REF_RGD_ID:2313934 8711089 Angpt2 angiopoietin 2 gene DOID:4676 uremia ISO RGD:621861 D RGD:9068941 20200609 RGD PMID:18751736|REF_RGD_ID:2314180 8711089 Angpt2 angiopoietin 2 gene DOID:4762 vasculogenic impotence ISO RGD:621861 D RGD:9068941 20200609 RGD associated with Hypercholesterolemia; mRNA, protein:decreased expression:cavernous body of penis (rat) PMID:16750245|REF_RGD_ID:2314210 8711089 Angpt2 angiopoietin 2 gene DOID:5844 myocardial infarction ISO RGD:621861 D RGD:9068941 20200609 RGD protein:increased expression:left ventricular wall, heart septum (rat) PMID:16714360|REF_RGD_ID:1601493 8711089 Angpt2 angiopoietin 2 gene DOID:630 genetic disease ISO RGD:730844 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32714618 8711089 Angpt2 angiopoietin 2 gene DOID:6432 pulmonary hypertension ISO RGD:621861 D RGD:9068941 20200609 RGD protein:increased expression:pulmonary artery (rat) PMID:19712575|REF_RGD_ID:2314185 8711089 Angpt2 angiopoietin 2 gene DOID:8947 diabetic retinopathy ISO RGD:621861 D RGD:9068941 20200609 RGD PMID:16520919|REF_RGD_ID:2314216 8711089 Angpt2 angiopoietin 2 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:621861 D RGD:9068941 20200609 RGD protein:increased expression:bile duct (rat) PMID:16628643|REF_RGD_ID:2314213 8711089 Angpt2 angiopoietin 2 gene DOID:9000037 Lymphatic Malformation 10 ISO RGD:730844 D RGD:7240710 20210616 OMIM 8711089 Angpt2 angiopoietin 2 gene DOID:9000037 Lymphatic Malformation 10 ISO RGD:730844 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Lymphatic malformation 10 PMID:25741868|PMID:32908006 8711089 Angpt2 angiopoietin 2 gene DOID:9000888 Pregnancy in Diabetics ISO RGD:730844 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;protein:decreased expression:plasma PMID:15209761|REF_RGD_ID:2313816 8711089 Angpt2 angiopoietin 2 gene DOID:9001285 Alcoholic Liver Diseases severity ISO RGD:730844 D RGD:9068941 20200609 RGD PMID:24959006|REF_RGD_ID:15014784 8711089 Angpt2 angiopoietin 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:621861 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:multiple organs (rat) PMID:18978178|REF_RGD_ID:2314174 8711089 Angpt2 angiopoietin 2 gene DOID:9003884 Recombinant Chromosome 8 Syndrome ISO RGD:730844 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Recombinant 8 syndrome PMID:31690835 8711089 Angpt2 angiopoietin 2 gene DOID:9005605 Arteriovenous Fistula ISO RGD:621861 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (rat) PMID:18692629|REF_RGD_ID:2314184 8711089 Angpt2 angiopoietin 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621861 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:15047628|REF_RGD_ID:2313817 8711089 Angpt2 angiopoietin 2 gene DOID:9005749 Necrosis ISO RGD:621861 D RGD:9068941 20200609 RGD mRNA:increased expression:liver, stellate cell, macrophage (rat) PMID:15135347|REF_RGD_ID:2314239 8711089 Angpt2 angiopoietin 2 gene DOID:9007096 Stroke ISO RGD:621861 D RGD:9068941 20200609 RGD mRNA:increased expression:brain (rat) PMID:15637314|REF_RGD_ID:1626166 8711089 Angpt2 angiopoietin 2 gene DOID:9007661 Dwarfism ISO RGD:730844 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868|PMID:26467025|PMID:28492532|PMID:32714618 8711089 Angpt2 angiopoietin 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:621861 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:myocardium (rat) PMID:12737621|REF_RGD_ID:1601505 8711089 Angpt2 angiopoietin 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730844 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:15823283|REF_RGD_ID:2313815 8711121 Aste1 asteroid homolog 1 gene DOID:0112182 mismatch repair cancer syndrome ISO RGD:1606299 D RGD:9068941 20220721 RGD DNA:mutations:cds: (human) PMID:28218421|REF_RGD_ID:153297765 8711121 Aste1 asteroid homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:1606299 D RGD:9068941 20220721 RGD DNA:mutations:cds: (human) PMID:28218421|REF_RGD_ID:153297765 8711121 Aste1 asteroid homolog 1 gene DOID:630 genetic disease ISO RGD:1606299 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8711121 Aste1 asteroid homolog 1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1606299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 8711121 Aste1 asteroid homolog 1 gene DOID:9270 alkaptonuria ISO RGD:1606299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 8711142 Nek9 NIMA related kinase 9 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1316228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Goldberg-Shprintzen syndrome PMID:25741868 8711142 Nek9 NIMA related kinase 9 gene DOID:10283 prostate cancer ISO RGD:1316228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8711142 Nek9 NIMA related kinase 9 gene DOID:1059 intellectual disability ISO RGD:1316228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 8711142 Nek9 NIMA related kinase 9 gene DOID:5679 retinal disease ISO RGD:1316228 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Retinal Diseases 8711142 Nek9 NIMA related kinase 9 gene DOID:630 genetic disease ISO RGD:1316228 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:31131953 8711142 Nek9 NIMA related kinase 9 gene DOID:674 cleft palate ISO RGD:1316228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cleft palate 8711142 Nek9 NIMA related kinase 9 gene DOID:9003288 Lethal Congenital Contracture Syndrome 10 ISO RGD:1316228 D RGD:7240710 20190315 OMIM 8711142 Nek9 NIMA related kinase 9 gene DOID:9003288 Lethal Congenital Contracture Syndrome 10 ISO RGD:1316228 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Lethal congenital contracture syndrome 10 PMID:25741868|PMID:26633546|PMID:26908619 8711142 Nek9 NIMA related kinase 9 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1316228 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Goldberg-Shprintzen syndrome PMID:25741868 8711142 Nek9 NIMA related kinase 9 gene DOID:9008794 ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY ISO RGD:1316228 D RGD:7240710 20190315 OMIM 8711142 Nek9 NIMA related kinase 9 gene DOID:9008794 ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY ISO RGD:1316228 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Arthrogryposis, Perthes disease, and upward gaze palsy PMID:25741868|PMID:26633546|PMID:28492532 8711142 Nek9 NIMA related kinase 9 gene DOID:9009038 Nevus Comedonicus ISO RGD:1316228 D RGD:7240710 20190315 OMIM 8711142 Nek9 NIMA related kinase 9 gene DOID:9009038 Nevus Comedonicus ISO RGD:1316228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nevus comedonicus PMID:27153399 8711184 Hectd1 HECT domain E3 ubiquitin protein ligase 1 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1350415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:21681106 8711184 Hectd1 HECT domain E3 ubiquitin protein ligase 1 gene DOID:607 paraplegia ISO RGD:1350415 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:21620353|PMID:25552650|PMID:27444738|PMID:28492532 8711184 Hectd1 HECT domain E3 ubiquitin protein ligase 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1350415 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8711236 Tulp1 TUB like protein 1 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1322319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8711236 Tulp1 TUB like protein 1 gene DOID:0050581 brachydactyly ISO RGD:1322319 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Brachydactyly PMID:15024725|PMID:19339744|PMID:23847139|PMID:24265693|PMID:25741868|PMID:28492532|PMID:31549751 8711236 Tulp1 TUB like protein 1 gene DOID:0050817 Stargardt disease ISO RGD:1322319 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Stargardt disease PMID:25741868|PMID:32531858 8711236 Tulp1 TUB like protein 1 gene DOID:0110078 Leber congenital amaurosis 1 ISO RGD:1322319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 1 PMID:17620573|PMID:17962469|PMID:21792230|PMID:23661368|PMID:25741868|PMID:26394700|PMID:26856745|PMID:28492532|PMID:28559085|PMID:29178942|PMID:33691693|PMID:33851411|PMID:9462750 8711236 Tulp1 TUB like protein 1 gene DOID:0110189 Leber congenital amaurosis 15 ISO RGD:1322319 D RGD:7240710 20180130 OMIM 8711236 Tulp1 TUB like protein 1 gene DOID:0110189 Leber congenital amaurosis 15 ISO RGD:1322319 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 15 | ClinVar Annotator: match by term: TULP1-related condition PMID:10549638|PMID:15024725|PMID:16199547|PMID:17576681|PMID:17620573|PMID:17962469|PMID:18055821|PMID:18432314|PMID:18936139|PMID:19339744|PMID:21792230|PMID:22665969|PMID:23105016|PMID:23847139|PMID:24154662|PMID:24265693|PMID:25074776|PMID:25342276|PMID:25692139|PMID:25741868|PMID:26047050|PMID:26355662|PMID:26448634|PMID:26856745|PMID:28492532|PMID:28559085|PMID:29068140|PMID:29641573|PMID:29843741|PMID:30054919|PMID:30337596|PMID:30950243|PMID:31054281|PMID:31087526|PMID:31549751|PMID:31589614|PMID:31630094|PMID:31736247|PMID:31964843|PMID:3203739|PMID:32037395|PMID:32483926|PMID:32531858|PMID:33576794|PMID:33781268|PMID:34426522|PMID:36460718|PMID:36819107|PMID:8606774|PMID:9462750|PMID:9462751|PMID:9536098|PMID:9660588 8711236 Tulp1 TUB like protein 1 gene DOID:0110381 retinitis pigmentosa 14 ISO RGD:1322319 D RGD:7240710 20180130 OMIM 8711236 Tulp1 TUB like protein 1 gene DOID:0110381 retinitis pigmentosa 14 ISO RGD:1322319 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: RETINITIS PIGMENTOSA, JUVENILE, TULP1-RELATED | ClinVar Annotator: match by term: Retinitis pigmentosa 14 PMID:10440267|PMID:10549638|PMID:15024725|PMID:15557452|PMID:16199547|PMID:17576681|PMID:17620573|PMID:17962469|PMID:18055821|PMID:18432314|PMID:18936139|PMID:19339744|PMID:21792230|PMID:21987678|PMID:22605927|PMID:22665969|PMID:23105016|PMID:23499059|PMID:23591405|PMID:23661368|PMID:23847139|PMID:24265693|PMID:25074776|PMID:25324289|PMID:25342276|PMID:25342620|PMID:2552515|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26355662|PMID:26427415|PMID:26448634|PMID:26766544|PMID:26856745|PMID:26987071|PMID:27440997|PMID:28127548|PMID:28418496|PMID:28492532|PMID:28559085|PMID:28981474|PMID:29068140|PMID:29068479|PMID:29625443|PMID:29843741|PMID:30054919|PMID:30337596|PMID:30718709|PMID:30950243|PMID:31054281|PMID:31087526|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31630094|PMID:31736247|PMID:31816670|PMID:31877759|PMID:31964843|PMID:32037395|PMID:32483926|PMID:32531858|PMID:32581362|PMID:32901917|PMID:33090715|PMID:33173045|PMID:33576794|PMID:33691693|PMID:33781268|PMID:33921607|PMID:33946315|PMID:34426522|PMID:34758253|PMID:34906470|PMID:36460718|PMID:36819107|PMID:38540785|PMID:8606774|PMID:9462750|PMID:9462751|PMID:9536098|PMID:9660588 8711236 Tulp1 TUB like protein 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1322319 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10440267|PMID:10549638|PMID:15024725|PMID:15557452|PMID:17576681|PMID:17962469|PMID:18055821|PMID:18432314|PMID:18936139|PMID:22605927|PMID:23105016|PMID:23847139|PMID:24033266|PMID:24265693|PMID:25324289|PMID:25342276|PMID:25342620|PMID:25692139|PMID:25741868|PMID:26047050|PMID:26355662|PMID:26766544|PMID:28127548|PMID:28492532|PMID:28981474|PMID:29625443|PMID:29843741|PMID:30054919|PMID:30337596|PMID:30718709|PMID:31630094|PMID:32531858|PMID:32901917|PMID:33090715|PMID:33173045|PMID:33576794|PMID:33946315|PMID:34906470|PMID:36909829|PMID:8606774|PMID:9462750|PMID:9462751|PMID:9536098|PMID:9660588 8711236 Tulp1 TUB like protein 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1322319 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10440267|PMID:10549638|PMID:15024725|PMID:15557452|PMID:17576681|PMID:17962469|PMID:18055821|PMID:18936139|PMID:22605927|PMID:23105016|PMID:23847139|PMID:24033266|PMID:24265693|PMID:25324289|PMID:25342276|PMID:25342620|PMID:25692139|PMID:25741868|PMID:26047050|PMID:26355662|PMID:26766544|PMID:28127548|PMID:28492532|PMID:28981474|PMID:29068479|PMID:29625443|PMID:29843741|PMID:30054919|PMID:30337596|PMID:30718709|PMID:31456290|PMID:31589614|PMID:31630094|PMID:31816670|PMID:31964843|PMID:32037395|PMID:32483926|PMID:32531858|PMID:32581362|PMID:32901917|PMID:33090715|PMID:33173045|PMID:33576794|PMID:33691693|PMID:33946315|PMID:34906470|PMID:36819107|PMID:36909829|PMID:8606774|PMID:9462750|PMID:9462751|PMID:9536098|PMID:9660588 8711236 Tulp1 TUB like protein 1 gene DOID:14791 Leber congenital amaurosis ISO RGD:1322319 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:10549638|PMID:15024725|PMID:17576681|PMID:18055821|PMID:18432314|PMID:18936139|PMID:19339744|PMID:21987678|PMID:23105016|PMID:23847139|PMID:24265693|PMID:24474277|PMID:25074776|PMID:25342276|PMID:25741868|PMID:26103963|PMID:26355662|PMID:26427415|PMID:26766544|PMID:26987071|PMID:27440997|PMID:28127548|PMID:28418496|PMID:28492532|PMID:28981474|PMID:29843741|PMID:30054919|PMID:30718709|PMID:31456290|PMID:31589614|PMID:31736247|PMID:31877759|PMID:31964843|PMID:32037395|PMID:32531858|PMID:32581362|PMID:33576794|PMID:33921607|PMID:34758253|PMID:34906470|PMID:36460718|PMID:36819107|PMID:38540785|PMID:8606774|PMID:9462750|PMID:9536098|PMID:9660588 8711236 Tulp1 TUB like protein 1 gene DOID:630 genetic disease ISO RGD:1322319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8711236 Tulp1 TUB like protein 1 gene DOID:8501 fundus dystrophy ISO RGD:1322319 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10440267|PMID:10549638|PMID:15024725|PMID:15557452|PMID:16199547|PMID:17576681|PMID:17962469|PMID:18055821|PMID:18432314|PMID:18936139|PMID:19339744|PMID:20065226|PMID:21987678|PMID:22605927|PMID:22665969|PMID:23591405|PMID:23847139|PMID:24154662|PMID:24265693|PMID:24547928|PMID:25074776|PMID:25268133|PMID:25324289|PMID:25342620|PMID:2552515|PMID:25741868|PMID:26047050|PMID:26355662|PMID:26427415|PMID:26766544|PMID:26987071|PMID:27440997|PMID:28127548|PMID:28418496|PMID:28492532|PMID:28981474|PMID:29068479|PMID:29178642|PMID:29625443|PMID:29641573|PMID:29843741|PMID:30337596|PMID:30718709|PMID:31054281|PMID:31213501|PMID:31456290|PMID:31549751|PMID:31589614|PMID:31630094|PMID:31736247|PMID:31816670|PMID:31877759|PMID:31964843|PMID:3203739|PMID:32037395|PMID:32483926|PMID:32531858|PMID:32581362|PMID:32901917|PMID:33090715|PMID:33173045|PMID:33576794|PMID:33749171|PMID:33781268|PMID:33921607|PMID:33946315|PMID:34426522|PMID:34758253|PMID:34906470|PMID:36284460|PMID:36460718|PMID:36819107|PMID:8606774|PMID:9462750|PMID:9462751|PMID:9536098|PMID:9660588 8711236 Tulp1 TUB like protein 1 gene DOID:9008296 Eye Abnormalities ISO RGD:1322319 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:10549638|PMID:15024725|PMID:18055821|PMID:18936139|PMID:23105016|PMID:25342276|PMID:25741868|PMID:26355662|PMID:28492532|PMID:30054919|PMID:8606774 8711254 St7 suppression of tumorigenicity 7 gene DOID:1485 cystic fibrosis ISO RGD:1343912 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Cystic fibrosis PMID:11781704|PMID:15520400|PMID:1695717|PMID:28492532|PMID:7691345|PMID:9725922 8711254 St7 suppression of tumorigenicity 7 gene DOID:4450 renal cell carcinoma ISO RGD:1343912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma | ClinVar Annotator: match by term: Renal cell carcinoma, somatic PMID:28492532 8711254 St7 suppression of tumorigenicity 7 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1343912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8711254 St7 suppression of tumorigenicity 7 gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:1343912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:28492532 8711254 St7 suppression of tumorigenicity 7 gene DOID:9008086 Developmental Disabilities ISO RGD:1343912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25558065 8711299 Ubl4b ubiquitin like 4B gene DOID:0080416 developmental and epileptic encephalopathy 32 ISO RGD:1602973 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 32 PMID:17634333|PMID:25950944|PMID:27457812|PMID:28492532|PMID:33802230 8711299 Ubl4b ubiquitin like 4B gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1602973 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 8711299 Ubl4b ubiquitin like 4B gene DOID:12849 autistic disorder ISO RGD:1602973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8711305 Ryr1 ryanodine receptor 1 gene DOID:0050557 congenital muscular dystrophy ISO RGD:1316413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy PMID:18813041|PMID:20301325|PMID:21878807|PMID:21918424|PMID:22473935|PMID:23329375|PMID:23394784|PMID:24055113|PMID:24195946|PMID:24433488|PMID:25637381|PMID:25735680|PMID:25741868|PMID:26332594|PMID:26467025|PMID:27058611|PMID:27147545|PMID:27153395|PMID:28492532 8711305 Ryr1 ryanodine receptor 1 gene DOID:0050557 congenital muscular dystrophy ISO RGD:1316413 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy PMID:18813041|PMID:20301325|PMID:21878807|PMID:21918424|PMID:22473935|PMID:22851008|PMID:23329375|PMID:23394784|PMID:24055113|PMID:24195946|PMID:24433488|PMID:25637381|PMID:25735680|PMID:25741868|PMID:26332594|PMID:26467025|PMID:27058611|PMID:27147545|PMID:27153395|PMID:28492532|PMID:30155738|PMID:30236257|PMID:30406384|PMID:30842289|PMID:33646171|PMID:33767344|PMID:34625927|PMID:35428369|PMID:35599849|PMID:36307859 8711305 Ryr1 ryanodine receptor 1 gene DOID:0050646 distal arthrogryposis ISO RGD:1316413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal arthrogryposis PMID:25741868 8711305 Ryr1 ryanodine receptor 1 gene DOID:0050700 cardiomyopathy ISO RGD:1316413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:25741868|PMID:28492532 8711305 Ryr1 ryanodine receptor 1 gene DOID:0050848 obstructive sleep apnea ISO RGD:1316413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SLEEP APNEA/HYPOPNEA SYNDROME PMID:25741868|PMID:28492532 8711305 Ryr1 ryanodine receptor 1 gene DOID:0060249 scoliosis ISO RGD:1316413 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Scoliosis PMID:17483490|PMID:18253926|PMID:19191329|PMID:19645060|PMID:21062345|PMID:22473935|PMID:23069638|PMID:23394784|PMID:23553787|PMID:23919265|PMID:24033266|PMID:24091937|PMID:25741868|PMID:27447704|PMID:28492532|PMID:30236257|PMID:32899693|PMID:34106991|PMID:35849058 8711305 Ryr1 ryanodine receptor 1 gene DOID:0060260 ptosis ISO RGD:1316413 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Ptosis PMID:10484775|PMID:11575529|PMID:12059893|PMID:12220451|PMID:12434264|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16244001|PMID:16835904|PMID:16917943|PMID:17081152|PMID:18505122|PMID:18564|PMID:19648156|PMID:19919814|PMID:21118704|PMID:21514828|PMID:22696611|PMID:23558838|PMID:23919265|PMID:24033266|PMID:24433488|PMID:25268394|PMID:25558065|PMID:25735680|PMID:25741868|PMID:25960145|PMID:27586648|PMID:27855725|PMID:28492532|PMID:30236257|PMID:30406384|PMID:31206373|PMID:31559918|PMID:9497245 8711305 Ryr1 ryanodine receptor 1 gene DOID:0060604 ankyloglossia ISO RGD:1316413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tongue tie PMID:16835904|PMID:24033266|PMID:25741868 8711305 Ryr1 ryanodine receptor 1 gene DOID:0060648 anterior segment dysgenesis ISO RGD:1316413 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: SCLEROCORNEA WITH OTHER OCULAR ANOMALIES PMID:18414213|PMID:20681998|PMID:22473935|PMID:23394784|PMID:23919265|PMID:24033266|PMID:24950660|PMID:25214167|PMID:25658027|PMID:25735680|PMID:25741868|PMID:25958340|PMID:25960145|PMID:28259615|PMID:28492532|PMID:29701772|PMID:30611313|PMID:31206373|PMID:31517061|PMID:32236737|PMID:34008892|PMID:35428369|PMID:36628841 8711305 Ryr1 ryanodine receptor 1 gene DOID:0070056 autosomal dominant intellectual developmental disorder 26 ISO RGD:1316413 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 26 PMID:11575529|PMID:12565913|PMID:1354642|PMID:15448513|PMID:18564801|PMID:19346234|PMID:19648156|PMID:20461000|PMID:23558838|PMID:23919265|PMID:25741868|PMID:27857962|PMID:28492532|PMID:30236257|PMID:6917943|PMID:9334205|PMID:9873004 8711305 Ryr1 ryanodine receptor 1 gene DOID:0070272 hereditary nonpolyposis colorectal cancer type 5 ISO RGD:1316413 D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 5 PMID:11709545|PMID:16917943|PMID:17204937|PMID:21118704|PMID:25741868|PMID:28492532|PMID:35081925|PMID:35428369 8711305 Ryr1 ryanodine receptor 1 gene DOID:0080102 congenital myopathy 4A ISO RGD:1316413 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital fiber-type disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion | ClinVar Annotator: match by term: SEPN1-Related Disorders PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10756965|PMID:10823104|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12123492|PMID:12124989|PMID:12151923|PMID:12208234|PMID:12237752|PMID:12411788|PMID:12434264|PMID:12642598|PMID:12700608|PMID:12732639|PMID:12937085|PMID:1329581|PMID:14500992|PMID:14670767|PMID:14732627|PMID:14985404|PMID:1510267|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16163667|PMID:16199547|PMID:16272262|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18171678|PMID:18193641|PMID:18253|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18564801|PMID:1862346|PMID:18765655|PMID:18813041|PMID:19191329|PMID:19191333|PMID:19346234|PMID:19513315|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21157159|PMID:21455645|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22418739|PMID:22473935|PMID:22851008|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24195946|PMID:24215330|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25476234|PMID:25517095|PMID:25525159|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25989378|PMID:26019235|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26633545|PMID:26951757|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27854218|PMID:27918309|PMID:28007021|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30115273|PMID:30155738|PMID:30236257|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30652412|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31165076|PMID:31206373|PMID:31304636|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31680123|PMID:31680349|PMID:31903994|PMID:31994743|PMID:32236737|PMID:32403337|PMID:32528171|PMID:32665702|PMID:32978841|PMID:33146414|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34463354|PMID:35285867|PMID:35428369|PMID:35535697|PMID:35548885|PMID:35599849|PMID:36208971|PMID:36628841|PMID:4149045|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7889656|PMID:8401544|PMID:8602662|PMID:8661021|PMID:8828983|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9873004 8711305 Ryr1 ryanodine receptor 1 gene DOID:0080102 congenital myopathy 4A ISO RGD:1316413 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital fiber-type disproportion | ClinVar Annotator: match by term: Congenital myopathy 4A, autosomal dominant | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10756965|PMID:10823104|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12123492|PMID:12124989|PMID:12151923|PMID:12208234|PMID:12237752|PMID:12411788|PMID:12434264|PMID:12565913|PMID:12642598|PMID:12700608|PMID:12732639|PMID:12937085|PMID:14500992|PMID:14670767|PMID:14732627|PMID:14985404|PMID:1510267|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16272262|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17204937|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18063506|PMID:1810122|PMID:18171678|PMID:18193641|PMID:18253|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18564801|PMID:18765655|PMID:18813041|PMID:19191329|PMID:19191333|PMID:19346234|PMID:19513315|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21157159|PMID:21455645|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22418739|PMID:22473935|PMID:22851008|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24195946|PMID:24215330|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25476234|PMID:25517095|PMID:25525159|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25944380|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26633545|PMID:26951757|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27452334|PMID:27545679|PMID:27558158|PMID:27586648|PMID:27616680|PMID:27646467|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28007021|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28326467|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29629541|PMID:29635721|PMID:29701772|PMID:29792937|PMID:30115273|PMID:30122538|PMID:30155738|PMID:30236257|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30652412|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:30872186|PMID:31016048|PMID:31055738|PMID:31107960|PMID:31127727|PMID:31165076|PMID:31206373|PMID:31304636|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31680123|PMID:31680349|PMID:31851124|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32236737|PMID:32304219|PMID:32403337|PMID:32528171|PMID:32665702|PMID:32978841|PMID:33037202|PMID:33146414|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34316023|PMID:34411415|PMID:34428338|PMID:34440373|PMID:34463354|PMID:34625927|PMID:34645488|PMID:34904211|PMID:35081925|PMID:35178478|PMID:35285867|PMID:35428369|PMID:35535697|PMID:35548885|PMID:35549722|PMID:35599849|PMID:35627144|PMID:36208971|PMID:36283893|PMID:36628841|PMID:37273706|PMID:37510298|PMID:4149045|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854 8711305 Ryr1 ryanodine receptor 1 gene DOID:0080102 congenital myopathy 4A ISO RGD:1316413 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital fiber-type disproportion | ClinVar Annotator: match by term: Congenital myopathy 4A, autosomal dominant | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion PMID:7762556|PMID:7889656|PMID:8401544|PMID:8602662|PMID:8661021|PMID:8828983|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9873004 8711305 Ryr1 ryanodine receptor 1 gene DOID:0080102 congenital myopathy 4A ISO RGD:1316413 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital fiber-type disproportion | ClinVar Annotator: match by term: Congenital myopathy 4A, autosomal dominant | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10756965|PMID:10823104|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12123492|PMID:12124989|PMID:12151923|PMID:12208234|PMID:12237752|PMID:12411788|PMID:12434264|PMID:12565913|PMID:12642598|PMID:12700608|PMID:12732639|PMID:12937085|PMID:14500992|PMID:14670767|PMID:14732627|PMID:14985404|PMID:1510267|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16272262|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17204937|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18063506|PMID:1810122|PMID:18171678|PMID:18193641|PMID:18253|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18564801|PMID:18765655|PMID:18813041|PMID:19191329|PMID:19191333|PMID:19346234|PMID:19513315|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21157159|PMID:21455645|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22418739|PMID:22473935|PMID:22851008|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24195946|PMID:24215330|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25476234|PMID:25517095|PMID:25525159|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25944380|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26633545|PMID:26951757|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27452334|PMID:27545679|PMID:27558158|PMID:27586648|PMID:27616680|PMID:27646467|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28007021|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28326467|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29629541|PMID:29635721|PMID:29701772|PMID:29792937|PMID:30115273|PMID:30122538|PMID:30155738|PMID:30236257|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30652412|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:30872186|PMID:31016048|PMID:31055738|PMID:31107960|PMID:31127727|PMID:31165076|PMID:31206373|PMID:31304636|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31680123|PMID:31680349|PMID:31851124|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32236737|PMID:32304219|PMID:32403337|PMID:32528171|PMID:32665702|PMID:32978841|PMID:33037202|PMID:33146414|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34316023|PMID:34411415|PMID:34428338|PMID:34440373|PMID:34463354|PMID:34625927|PMID:34645488|PMID:34904211|PMID:35081925|PMID:35178478|PMID:35285867|PMID:35428369|PMID:35535697|PMID:35548885|PMID:35549722|PMID:35599849|PMID:35627144|PMID:35697689|PMID:36208971|PMID:36283893|PMID:36474027|PMID:36628841|PMID:37273706|PMID:37510298|PMID:37541188|PMID:37937776|PMID:4149045|PMID:7299413 8711305 Ryr1 ryanodine receptor 1 gene DOID:0080102 congenital myopathy 4A ISO RGD:1316413 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital fiber-type disproportion | ClinVar Annotator: match by term: Congenital myopathy 4A, autosomal dominant | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion PMID:7511586|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7889656|PMID:8401544|PMID:8602662|PMID:8661021|PMID:8828983|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9873004 8711305 Ryr1 ryanodine receptor 1 gene DOID:0080102 congenital myopathy 4A ISO RGD:1316413 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital fiber-type disproportion | ClinVar Annotator: match by term: Congenital myopathy 4A, autosomal dominant | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10756965|PMID:10823104|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12123492|PMID:12124989|PMID:12151923|PMID:12208234|PMID:12237752|PMID:12411788|PMID:12434264|PMID:12565913|PMID:12642598|PMID:12700608|PMID:12732639|PMID:12937085|PMID:14500992|PMID:14670767|PMID:14732627|PMID:14985404|PMID:1510267|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16272262|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17204937|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18063506|PMID:1810122|PMID:18171678|PMID:18193641|PMID:18253|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18564801|PMID:18765655|PMID:18813041|PMID:19191329|PMID:19191333|PMID:19346234|PMID:19513315|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21157159|PMID:21455645|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22418739|PMID:22473935|PMID:22851008|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24195946|PMID:24215330|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25476234|PMID:25517095|PMID:25525159|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26633545|PMID:26951757|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27452334|PMID:27545679|PMID:27558158|PMID:27586648|PMID:27616680|PMID:27646467|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28007021|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28326467|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29629541|PMID:29635721|PMID:29701772|PMID:29792937|PMID:30115273|PMID:30122538|PMID:30155738|PMID:30236257|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30652412|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:30872186|PMID:31016048|PMID:31055738|PMID:31107960|PMID:31127727|PMID:31165076|PMID:31206373|PMID:31304636|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31680123|PMID:31680349|PMID:31851124|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32236737|PMID:32304219|PMID:32403337|PMID:32528171|PMID:32665702|PMID:32978841|PMID:33037202|PMID:33146414|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34316023|PMID:34411415|PMID:34428338|PMID:34440373|PMID:34463354|PMID:34625927|PMID:34645488|PMID:34904211|PMID:35081925|PMID:35178478|PMID:35285867|PMID:35428369|PMID:35535697|PMID:35548885|PMID:35549722|PMID:35599849|PMID:35627144|PMID:35697689|PMID:36208971|PMID:36283893|PMID:36474027|PMID:36628841|PMID:37273706|PMID:37510298|PMID:37541188|PMID:37712079|PMID:37937776|PMID:4149045|PMID:7299413 8711305 Ryr1 ryanodine receptor 1 gene DOID:0080102 congenital myopathy 4A ISO RGD:1316413 D RGD:8554872 20250218 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital fiber-type disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10756965|PMID:10823104|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12123492|PMID:12124989|PMID:12151923|PMID:12208234|PMID:12237752|PMID:12411788|PMID:12434264|PMID:12565913|PMID:12642598|PMID:12700608|PMID:12732639|PMID:12937085|PMID:14500992|PMID:14670767|PMID:14732627|PMID:14985404|PMID:1510267|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16272262|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17204937|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18063506|PMID:18171678|PMID:18193641|PMID:18253|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18564801|PMID:18765655|PMID:18813041|PMID:19191329|PMID:19191333|PMID:19346234|PMID:19513315|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21157159|PMID:21455645|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22851008|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24195946|PMID:24215330|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25476234|PMID:25517095|PMID:25525159|PMID:25637381|PMID:25658027|PMID:2567381|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26633545|PMID:26951757|PMID:26972305|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27452334|PMID:27545679|PMID:27558158|PMID:27586648|PMID:27616680|PMID:27646467|PMID:27854218|PMID:27855725|PMID:27857962|PMID:27918309|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28326467|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28818389|PMID:29172004|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29629541|PMID:29635721|PMID:29701772|PMID:29792937|PMID:30115273|PMID:30122538|PMID:30155738|PMID:30236257|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30652412|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:30872186|PMID:31016048|PMID:31055738|PMID:31107960|PMID:31127727|PMID:31165076|PMID:31206373|PMID:31301762|PMID:31304636|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31680123|PMID:31680349|PMID:31851124|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32236737|PMID:32304219|PMID:32403337|PMID:32528171|PMID:32665702|PMID:32978841|PMID:33037202|PMID:33146414|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34316023|PMID:34411415|PMID:34428338|PMID:34440373|PMID:34463354|PMID:34625927|PMID:34645488|PMID:34707284|PMID:35081925|PMID:35178478|PMID:35285867|PMID:35428369|PMID:35535697|PMID:35548885|PMID:35549722|PMID:35599849|PMID:35627144|PMID:35697689|PMID:36208971|PMID:36283893|PMID:36474027|PMID:36628841|PMID:36757698|PMID:36939041|PMID:37273706|PMID:37510298|PMID:37541188|PMID:37712079|PMID:37937776|PMID:4149045|PMID:7299413|PMID:7511586|PMID:7547049 8711305 Ryr1 ryanodine receptor 1 gene DOID:0080102 congenital myopathy 4A ISO RGD:1316413 D RGD:8554872 20250218 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital fiber-type disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7889656|PMID:8401544|PMID:8602662|PMID:8661021|PMID:8828983|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9873004 8711305 Ryr1 ryanodine receptor 1 gene DOID:0080102 congenital myopathy 4A ISO RGD:1316413 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital fiber-type disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10756965|PMID:10823104|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12123492|PMID:12124989|PMID:12151923|PMID:12208234|PMID:12237752|PMID:12411788|PMID:12434264|PMID:12565913|PMID:12642598|PMID:12700608|PMID:12732639|PMID:12937085|PMID:14500992|PMID:14670767|PMID:14732627|PMID:14985404|PMID:1510267|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16272262|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17204937|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18063506|PMID:18171678|PMID:18193641|PMID:18253|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18564801|PMID:18765655|PMID:18813041|PMID:19191329|PMID:19191333|PMID:19346234|PMID:19513315|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21455645|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22851008|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25476234|PMID:25517095|PMID:25525159|PMID:25637381|PMID:25658027|PMID:2567381|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25944380|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26633545|PMID:26951757|PMID:26972305|PMID:26994242|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27452334|PMID:27545679|PMID:27558158|PMID:27586648|PMID:27616680|PMID:27646467|PMID:27854218|PMID:27855725|PMID:27857962|PMID:27858745|PMID:27918309|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28326467|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28818389|PMID:29172004|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29629541|PMID:29635721|PMID:29701772|PMID:29792937|PMID:30115273|PMID:30122538|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30652412|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:30872186|PMID:31016048|PMID:31055738|PMID:31107960|PMID:31127727|PMID:31165076|PMID:31206373|PMID:31301762|PMID:31304636|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31680123|PMID:31680349|PMID:31851124|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32236737|PMID:32304219|PMID:32403337|PMID:32528171|PMID:32665702|PMID:32978841|PMID:33037202|PMID:33124102|PMID:33146414|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34316023|PMID:34411415|PMID:34428338|PMID:34440373|PMID:34463354|PMID:34625927|PMID:34645488|PMID:34707284|PMID:35081925|PMID:35178478|PMID:35285867|PMID:35428369|PMID:35535697|PMID:35548885|PMID:35549722|PMID:35599849|PMID:35627144|PMID:35697689|PMID:35718563|PMID:36208971|PMID:36283893|PMID:36474027|PMID:36628841|PMID:36757698 8711305 Ryr1 ryanodine receptor 1 gene DOID:0080102 congenital myopathy 4A ISO RGD:1316413 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital fiber-type disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion PMID:36833224|PMID:36939041|PMID:37273706|PMID:37432431|PMID:37510298|PMID:37541188|PMID:37712079|PMID:37838930|PMID:37937776|PMID:39825153|PMID:4149045|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7889656|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8828983|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9873004 8711305 Ryr1 ryanodine receptor 1 gene DOID:0080612 anterior segment dysgenesis 7 ISO RGD:1316413 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: SCLEROCORNEA WITH OTHER OCULAR ANOMALIES PMID:18414213|PMID:20681998|PMID:22473935|PMID:23394784|PMID:23919265|PMID:24033266|PMID:24950660|PMID:25214167|PMID:25658027|PMID:25735680|PMID:25741868|PMID:25958340|PMID:25960145|PMID:28259615|PMID:28492532|PMID:29701772|PMID:30611313|PMID:31206373|PMID:31517061|PMID:32236737|PMID:34008892|PMID:35428369|PMID:36628841 8711305 Ryr1 ryanodine receptor 1 gene DOID:0080700 caudal regression syndrome ISO RGD:1316413 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Agenesis of sacrum PMID:10484775|PMID:11575529|PMID:12059893|PMID:12220451|PMID:12434264|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16835904|PMID:16917943|PMID:17081152|PMID:18505122|PMID:18564|PMID:19648156|PMID:19919814|PMID:21118704|PMID:21514828|PMID:22696611|PMID:23558838|PMID:23919265|PMID:24033266|PMID:24433488|PMID:25268394|PMID:25558065|PMID:25735680|PMID:25741868|PMID:25960145|PMID:27586648|PMID:28492532|PMID:30236257|PMID:31206373|PMID:31559918|PMID:9497245 8711305 Ryr1 ryanodine receptor 1 gene DOID:0080700 caudal regression syndrome ISO RGD:1316413 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Agenesis of sacrum PMID:10484775|PMID:11575529|PMID:12059893|PMID:12220451|PMID:12434264|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16244001|PMID:16835904|PMID:16917943|PMID:17081152|PMID:18505122|PMID:18564|PMID:19648156|PMID:19919814|PMID:21118704|PMID:21514828|PMID:22696611|PMID:23558838|PMID:23919265|PMID:24033266|PMID:24433488|PMID:25268394|PMID:25558065|PMID:25735680|PMID:25741868|PMID:25960145|PMID:27586648|PMID:27855725|PMID:28492532|PMID:30236257|PMID:30406384|PMID:31206373|PMID:31559918|PMID:9497245 8711305 Ryr1 ryanodine receptor 1 gene DOID:0080718 GNE myopathy ISO RGD:1316413 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inclusion body myopathy quadriceps sparing PMID:25741868|PMID:28492532 8711305 Ryr1 ryanodine receptor 1 gene DOID:0080954 arthrogryposis multiplex congenita ISO RGD:1316413 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita | ClinVar Annotator: match by term: Guérin-Stern syndrome | ClinVar Annotator: match by term: Muscular dystrophy and arthrogryposis PMID:19454545|PMID:20839240|PMID:21911697|PMID:22473935|PMID:22526018|PMID:23394784|PMID:23826317|PMID:23919265|PMID:24195946|PMID:25637381|PMID:25658027|PMID:2567381|PMID:25735680|PMID:25741868|PMID:26332594|PMID:27452334|PMID:28492532|PMID:28818389|PMID:30236257|PMID:30611313|PMID:30652412|PMID:31407473|PMID:31559918|PMID:31680123|PMID:32978841|PMID:34463354|PMID:35548885|PMID:36939041|PMID:39825153 8711305 Ryr1 ryanodine receptor 1 gene DOID:0080990 King Denborough syndrome ISO RGD:1316413 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: King Denborough syndrome | ClinVar Annotator: match by term: King syndrome PMID:10051009|PMID:10352931|PMID:10484775|PMID:10612851|PMID:1069529|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12124989|PMID:12151923|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434264|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12937085|PMID:14500992|PMID:14670767|PMID:14732627|PMID:14985404|PMID:1510267|PMID:15175001|PMID:15210166|PMID:15281512|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16272262|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081125|PMID:17081152|PMID:17204937|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17576681|PMID:17667581|PMID:17667681|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18063506|PMID:1810122|PMID:18171678|PMID:18193641|PMID:18253|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18505122|PMID:18564|PMID:18564801|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19191329|PMID:19191333|PMID:19346234|PMID:19513315|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19919814|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21455645|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22415532|PMID:22418739|PMID:22473935|PMID:22696611|PMID:22851008|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24361844|PMID:24433488|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25086907|PMID:25214167|PMID:25268394|PMID:25326635|PMID:25370123|PMID:25428687|PMID:25476234|PMID:25517095|PMID:25525159|PMID:25558065|PMID:25635128|PMID:25637381|PMID:25658027|PMID:2567381|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25944380|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26578207|PMID:26633545|PMID:26951757|PMID:26972305|PMID:26994242|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27452334|PMID:27545679|PMID:27558158|PMID:27586648|PMID:27616680|PMID:27646467|PMID:27831900|PMID:27854218|PMID:27855725|PMID:27857962|PMID:27858745|PMID:27918309|PMID:28007021|PMID:28063098|PMID:28259615|PMID:28269792|PMID:28326467|PMID:28357410|PMID:28492532|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29629541|PMID:29635721|PMID:29792937|PMID:29802573|PMID:30122538|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30652412|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:30872186|PMID:31016048|PMID:31055738|PMID:31107960|PMID:31127727|PMID:31135626|PMID:31165076|PMID:31206373|PMID:31301762|PMID:31304636|PMID:31321302|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31589614|PMID:31680123|PMID:31680349|PMID:31851124|PMID:31994743|PMID:32054689|PMID:32236737|PMID:32304219|PMID:32403337|PMID:32528171|PMID:32665702|PMID:32978841|PMID:33037202|PMID:33124102|PMID:33146414|PMID:33176865|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33625594|PMID:33646171|PMID:33758288|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34316023|PMID:34411415|PMID:34426522 8711305 Ryr1 ryanodine receptor 1 gene DOID:0080990 King Denborough syndrome ISO RGD:1316413 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: King Denborough syndrome | ClinVar Annotator: match by term: King syndrome PMID:34428338|PMID:34440373|PMID:34463354|PMID:34528764|PMID:34595679|PMID:34625927|PMID:34645488|PMID:34707284|PMID:34849273|PMID:34904211|PMID:35081925|PMID:35178478|PMID:35285867|PMID:35304488|PMID:35361824|PMID:35428369|PMID:35535697|PMID:35548885|PMID:35549722|PMID:35599849|PMID:35627144|PMID:35693006|PMID:35697689|PMID:35718563|PMID:36208971|PMID:36283893|PMID:36474027|PMID:36628841|PMID:36757698|PMID:36833224|PMID:36939041|PMID:37273706|PMID:37432431|PMID:37510298|PMID:37541188|PMID:37787745|PMID:37838930|PMID:37937776|PMID:39825153|PMID:4149045|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8828983|PMID:9030597|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9873004 8711305 Ryr1 ryanodine receptor 1 gene DOID:0080990 King Denborough syndrome susceptibility ISO RGD:1316413 D RGD:7240710 20250312 OMIM 8711305 Ryr1 ryanodine receptor 1 gene DOID:0080991 congenital myopathy 1B ISO RGD:1316413 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CONGENITAL MYOPATHY 1B, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: MULTICORE MYOPATHY | ClinVar Annotator: match by term: Minicore myopathy with external ophthalmoplegia | ClinVar Annotator: match by term: Multicore myopathy with external ophthalmoplegia | ClinVar Annotator: match by term: Multiminicore disease with external ophthalmoplegia | ClinVar Annotator: match by term: Multiminicore myopathy PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9873004 8711305 Ryr1 ryanodine receptor 1 gene DOID:0080991 congenital myopathy 1B ISO RGD:1316413 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CONGENITAL MYOPATHY 1B, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: MULTICORE MYOPATHY | ClinVar Annotator: match by term: Minicore myopathy with external ophthalmoplegia | ClinVar Annotator: match by term: Multicore myopathy with external ophthalmoplegia | ClinVar Annotator: match by term: Multiminicore disease with external ophthalmoplegia | ClinVar Annotator: match by term: Multiminicore myopathy PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10756965|PMID:10823104|PMID:10888602|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12208234|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434264|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12719381|PMID:12732639|PMID:12937085|PMID:1329581|PMID:14500992|PMID:14670767|PMID:14732627|PMID:14985404|PMID:1510267|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16272262|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17226826|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18171678|PMID:18193641|PMID:18253|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18813041|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19645060|PMID:19648156|PMID:19807743|PMID:19825159|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21157159|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22705209|PMID:22734812|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23183335|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25517095|PMID:25525159|PMID:25614869|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25987458|PMID:25989378|PMID:26019235|PMID:26332594|PMID:26467025|PMID:26565425|PMID:26633545|PMID:26841830|PMID:26951757|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27066551|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27353517|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27447704|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27854218|PMID:28003660|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28326467|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29556213|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30122538|PMID:30155738|PMID:30236257|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31135626|PMID:31165076|PMID:31206373|PMID:31304636|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31680349|PMID:31742715|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32098966|PMID:32236737|PMID:32403337|PMID:32528171|PMID:32665702|PMID:33146414|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34463354|PMID:34528764|PMID:34535181|PMID:34809703|PMID:35285867|PMID:35535697|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7889656|PMID:8401544|PMID:8602662|PMID:8828983|PMID:9334205 8711305 Ryr1 ryanodine receptor 1 gene DOID:0080991 congenital myopathy 1B ISO RGD:1316413 D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Congenital myopathy 1B, autosomal recessive | ClinVar Annotator: match by term: MULTICORE MYOPATHY | ClinVar Annotator: match by term: Minicore myopathy | ClinVar Annotator: match by term: Minicore myopathy with external ophthalmoplegia | ClinVar Annotator: match by term: Multicore myopathy with external ophthalmoplegia | ClinVar Annotator: match by term: Multiminicore disease with external ophthalmoplegia | ClinVar Annotator: match by term: Multiminicore myopathy PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33646171|PMID:33726816|PMID:33758288|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34316023|PMID:34411415|PMID:34426522|PMID:34428338|PMID:34440373|PMID:34463354|PMID:34528764|PMID:34535181|PMID:34625927|PMID:34645488|PMID:34809703|PMID:34904211|PMID:35081925|PMID:35285867|PMID:35428369|PMID:35535697|PMID:35549722|PMID:35599849|PMID:35627144|PMID:36208971|PMID:36283893|PMID:36628841|PMID:37273706|PMID:37510298|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7889656|PMID:8010475|PMID:8401544|PMID:8602662|PMID:8828983|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9873004 8711305 Ryr1 ryanodine receptor 1 gene DOID:0080991 congenital myopathy 1B ISO RGD:1316413 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Congenital myopathy 1B, autosomal recessive | ClinVar Annotator: match by term: MULTICORE MYOPATHY | ClinVar Annotator: match by term: Minicore myopathy | ClinVar Annotator: match by term: Minicore myopathy with external ophthalmoplegia | ClinVar Annotator: match by term: Multicore myopathy with external ophthalmoplegia | ClinVar Annotator: match by term: Multiminicore disease with external ophthalmoplegia | ClinVar Annotator: match by term: Multiminicore myopathy PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:1069529|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11673462|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12112081|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434264|PMID:12565913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12719381|PMID:12732639|PMID:12937085|PMID:14500992|PMID:14670767|PMID:14732627|PMID:14985404|PMID:1510267|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16272262|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081125|PMID:17081152|PMID:17204937|PMID:17226826|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17667681|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18063506|PMID:1810122|PMID:18171678|PMID:18193641|PMID:18253|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18505122|PMID:18564|PMID:18564801|PMID:18719443|PMID:18813041|PMID:18945287|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19645060|PMID:19648156|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21157159|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22418739|PMID:22473935|PMID:22696611|PMID:22705209|PMID:22734812|PMID:22851008|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23183335|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24706162|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25370123|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25517095|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25614869|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25882082|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25987458|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26633545|PMID:26684984|PMID:26841830|PMID:26951757|PMID:26972305|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27066551|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27234031|PMID:27353517|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27447704|PMID:27545679|PMID:27558158|PMID:27586648|PMID:27616680|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27854218|PMID:27855725|PMID:27857962|PMID:28003660|PMID:28007021|PMID:28063098|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28326467|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29556213|PMID:29629541|PMID:29635721|PMID:29667327|PMID:29701772|PMID:29792937|PMID:29802573|PMID:30122538|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:30872186|PMID:31016048 8711305 Ryr1 ryanodine receptor 1 gene DOID:0080991 congenital myopathy 1B ISO RGD:1316413 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Congenital myopathy 1B, autosomal recessive | ClinVar Annotator: match by term: MULTICORE MYOPATHY | ClinVar Annotator: match by term: Minicore myopathy | ClinVar Annotator: match by term: Minicore myopathy with external ophthalmoplegia | ClinVar Annotator: match by term: Multicore myopathy with external ophthalmoplegia | ClinVar Annotator: match by term: Multiminicore disease with external ophthalmoplegia | ClinVar Annotator: match by term: Multiminicore myopathy PMID:31055738|PMID:31107960|PMID:31127727|PMID:31130284|PMID:31135626|PMID:31165076|PMID:31206373|PMID:31301762|PMID:31304636|PMID:31321302|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31589614|PMID:31680349|PMID:31742715|PMID:31851124|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32098966|PMID:32236737|PMID:32304219|PMID:32371413|PMID:32403337|PMID:32528171|PMID:32665702|PMID:33037202|PMID:33146414|PMID:33176865|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33625594|PMID:33646171|PMID:33726816|PMID:33758288|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34316023|PMID:34411415|PMID:34426522|PMID:34428338|PMID:34440373|PMID:34463354|PMID:34528764|PMID:34535181|PMID:34595679|PMID:34625927|PMID:34645488|PMID:34707284|PMID:34809703|PMID:34849273|PMID:34904211|PMID:35081925|PMID:35285867|PMID:35361824|PMID:35428369|PMID:35535697|PMID:35549722|PMID:35587316|PMID:35599849|PMID:35627144|PMID:35693006|PMID:35697689|PMID:35718563|PMID:36208971|PMID:36283893|PMID:36474027|PMID:36628841|PMID:36757698|PMID:36983702|PMID:37273706|PMID:37510298|PMID:37541188|PMID:37712079|PMID:37787745|PMID:37937776|PMID:38582058|PMID:39033378|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8010475|PMID:8401544|PMID:8602662|PMID:8661021|PMID:8828983|PMID:9030597|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9873004 8711305 Ryr1 ryanodine receptor 1 gene DOID:0080991 congenital myopathy 1B ISO RGD:1316413 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Congenital myopathy 1B, autosomal recessive | ClinVar Annotator: match by term: MULTICORE MYOPATHY | ClinVar Annotator: match by term: Minicore myopathy | ClinVar Annotator: match by term: Minicore myopathy with external ophthalmoplegia | ClinVar Annotator: match by term: Multicore myopathy with external ophthalmoplegia | ClinVar Annotator: match by term: Multiminicore disease with external ophthalmoplegia | ClinVar Annotator: match by term: Multiminicore myopathy PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:1069529|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11673462|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12112081|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434264|PMID:12565913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12719381|PMID:12732639|PMID:12937085|PMID:14500992|PMID:14670767|PMID:14732627|PMID:14985404|PMID:1510267|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16272262|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081125|PMID:17081152|PMID:17204937|PMID:17226826|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17667681|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18063506|PMID:1810122|PMID:18171678|PMID:18193641|PMID:18253|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18505122|PMID:18564|PMID:18564801|PMID:18719443|PMID:18813041|PMID:18945287|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19645060|PMID:19648156|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22418739|PMID:22473935|PMID:22696611|PMID:22705209|PMID:22734812|PMID:22851008|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23183335|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24706162|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25370123|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25517095|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25614869|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25882082|PMID:25944380|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25987458|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26633545|PMID:26684984|PMID:26841830|PMID:26951757|PMID:26972305|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27066551|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27234031|PMID:27353517|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27447704|PMID:27545679|PMID:27558158|PMID:27586648|PMID:27616680|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27854218|PMID:27855725|PMID:27857962|PMID:27858745|PMID:28003660|PMID:28007021|PMID:28063098|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28326467|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29556213|PMID:29629541|PMID:29635721|PMID:29667327|PMID:29701772|PMID:29792937|PMID:29802573|PMID:30122538|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:30827497 8711305 Ryr1 ryanodine receptor 1 gene DOID:0080991 congenital myopathy 1B ISO RGD:1316413 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Congenital myopathy 1B, autosomal recessive | ClinVar Annotator: match by term: MULTICORE MYOPATHY | ClinVar Annotator: match by term: Minicore myopathy | ClinVar Annotator: match by term: Minicore myopathy with external ophthalmoplegia | ClinVar Annotator: match by term: Multicore myopathy with external ophthalmoplegia | ClinVar Annotator: match by term: Multiminicore disease with external ophthalmoplegia | ClinVar Annotator: match by term: Multiminicore myopathy PMID:30842289|PMID:30864471|PMID:30872186|PMID:31016048|PMID:31055738|PMID:31107960|PMID:31127727|PMID:31130284|PMID:31135626|PMID:31165076|PMID:31206373|PMID:31301762|PMID:31304636|PMID:31321302|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31589614|PMID:31680349|PMID:31742715|PMID:31851124|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32098966|PMID:32236737|PMID:32304219|PMID:32371413|PMID:32403337|PMID:32528171|PMID:32665702|PMID:33037202|PMID:33124102|PMID:33146414|PMID:33176865|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33625594|PMID:33646171|PMID:33726816|PMID:33758288|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34316023|PMID:34411415|PMID:34426522|PMID:34428338|PMID:34440373|PMID:34463354|PMID:34528764|PMID:34535181|PMID:34595679|PMID:34625927|PMID:34645488|PMID:34707284|PMID:34809703|PMID:34849273|PMID:34904211|PMID:35081925|PMID:35178478|PMID:35285867|PMID:35361824|PMID:35387801|PMID:35428369|PMID:35535697|PMID:35549722|PMID:35587316|PMID:35599849|PMID:35627144|PMID:35693006|PMID:35697689|PMID:35718563|PMID:36208971|PMID:36283893|PMID:36474027|PMID:36628841|PMID:36757698|PMID:36833224|PMID:36983702|PMID:37273706|PMID:37432431|PMID:37510298|PMID:37541188|PMID:37712079|PMID:37787745|PMID:37838930|PMID:37937776|PMID:38582058|PMID:39033378|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8010475|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8828983|PMID:9030597|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9873004 8711305 Ryr1 ryanodine receptor 1 gene DOID:0080991 congenital myopathy 1B susceptibility ISO RGD:1316413 D RGD:7240710 20250312 OMIM 8711305 Ryr1 ryanodine receptor 1 gene DOID:0081337 congenital myopathy ISO RGD:1316413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Batten-Turner congenital myopathy | ClinVar Annotator: match by term: Congenital myopathy PMID:17033962|PMID:18414213|PMID:20080402|PMID:20583297|PMID:20839240|PMID:21911697|PMID:22473935|PMID:23035052|PMID:23394784|PMID:23553787|PMID:23826317|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24195946|PMID:25428687|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:26019235|PMID:26332594|PMID:27382027|PMID:28492532|PMID:28818389|PMID:30122538|PMID:30325262|PMID:30652412|PMID:30724636|PMID:31407473|PMID:31680123|PMID:32054689|PMID:32236737|PMID:32978841|PMID:33458582|PMID:33767344|PMID:34463354 8711305 Ryr1 ryanodine receptor 1 gene DOID:0081337 congenital myopathy ISO RGD:1316413 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Congenital myopathy PMID:10097181|PMID:11274444|PMID:11709545|PMID:11741831|PMID:12642598|PMID:15175001|PMID:16621918|PMID:17033962|PMID:17081152|PMID:1743490|PMID:17483490|PMID:18414213|PMID:18564801|PMID:20080402|PMID:20839240|PMID:20888934|PMID:21062345|PMID:21825032|PMID:21911697|PMID:22203976|PMID:22473935|PMID:22992668|PMID:23035052|PMID:23394784|PMID:23553787|PMID:23826317|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24195946|PMID:24561095|PMID:25084811|PMID:25428687|PMID:25637381|PMID:25658027|PMID:2567381|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25960145|PMID:25989378|PMID:26019235|PMID:26332594|PMID:26633545|PMID:26994242|PMID:27382027|PMID:27452334|PMID:27855725|PMID:28492532|PMID:28818389|PMID:29172004|PMID:30122538|PMID:30155738|PMID:30325262|PMID:30611313|PMID:30652412|PMID:30724636|PMID:31055738|PMID:31107960|PMID:31407473|PMID:31680123|PMID:32054689|PMID:32236737|PMID:32978841|PMID:33458582|PMID:33767344|PMID:34463354|PMID:35548885|PMID:36757698|PMID:36939041|PMID:37712079|PMID:39825153 8711305 Ryr1 ryanodine receptor 1 gene DOID:0110334 osteogenesis imperfecta type 1 ISO RGD:1316413 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta PMID:16199547|PMID:23919265|PMID:25741868|PMID:25944380|PMID:25960145|PMID:28492532|PMID:28818389|PMID:30611313 8711305 Ryr1 ryanodine receptor 1 gene DOID:0110340 osteogenesis imperfecta type 4 ISO RGD:1316413 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Osteogenesis Imperfecta Type IV PMID:16199547|PMID:23919265|PMID:25741868|PMID:25944380|PMID:25960145|PMID:28492532|PMID:28818389|PMID:30611313 8711305 Ryr1 ryanodine receptor 1 gene DOID:0110633 rigid spine muscular dystrophy 1 ISO RGD:1316413 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Multi-minicore disease and atypical periodic paralysis | ClinVar Annotator: match by term: Multiminicore/minicore/multicore disease PMID:17033962|PMID:18414213|PMID:20080402|PMID:21674524|PMID:21911697|PMID:22473935|PMID:23394784|PMID:23553787|PMID:23919265|PMID:24033266|PMID:24088041|PMID:24195946|PMID:24950660|PMID:24951453|PMID:25214167|PMID:25476234|PMID:25525159|PMID:25637381|PMID:25658027|PMID:25735680|PMID:25741868|PMID:25958340|PMID:25960145|PMID:26332594|PMID:26633545|PMID:27854218|PMID:28259615|PMID:28492532|PMID:28818389|PMID:30609409|PMID:30611313|PMID:31206373|PMID:31517061|PMID:31680349|PMID:32236737|PMID:33333461|PMID:34008892|PMID:35428369|PMID:36628841 8711305 Ryr1 ryanodine receptor 1 gene DOID:0110660 congenital myasthenic syndrome 12 ISO RGD:1316413 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Myasthenia, congenital, 12, with tubular aggregates PMID:25741868|PMID:28492532|PMID:29635721|PMID:36283893 8711305 Ryr1 ryanodine receptor 1 gene DOID:0111338 isolated elevated serum creatine phosphokinase levels ISO RGD:1316413 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC PMID:24195946|PMID:25741868|PMID:28259615|PMID:28492532|PMID:30755392|PMID:33564012|PMID:34008892 8711305 Ryr1 ryanodine receptor 1 gene DOID:0111375 fetal akinesia deformation sequence syndrome ISO RGD:1316413 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1 PMID:20839240|PMID:21911697|PMID:22473935|PMID:23394784|PMID:23919265|PMID:25637381|PMID:25658027|PMID:2567381|PMID:25735680|PMID:25741868|PMID:26332594|PMID:27452334|PMID:28492532|PMID:30652412|PMID:31407473|PMID:31680123|PMID:32978841|PMID:34463354|PMID:35548885|PMID:36939041|PMID:39825153 8711305 Ryr1 ryanodine receptor 1 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1316413 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar Annotator: match by term: Fetal akinesia sequence PMID:20839240|PMID:21911697|PMID:22473935|PMID:23394784|PMID:23919265|PMID:25637381|PMID:25658027|PMID:2567381|PMID:25735680|PMID:25741868|PMID:26332594|PMID:27452334|PMID:28492532|PMID:28818389|PMID:30652412|PMID:31407473|PMID:31680123|PMID:32978841|PMID:34463354|PMID:35548885|PMID:36939041|PMID:39825153 8711305 Ryr1 ryanodine receptor 1 gene DOID:10591 pre-eclampsia ISO RGD:1316413 D RGD:9068941 20231130 RGD mRNA:decreased expression:placenta (human) PMID:36477942|REF_RGD_ID:401901174 8711305 Ryr1 ryanodine receptor 1 gene DOID:11162 respiratory failure ISO RGD:1316413 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Respiratory insufficiency PMID:25741868|PMID:28492532|PMID:34625927|PMID:36307859 8711305 Ryr1 ryanodine receptor 1 gene DOID:11476 osteoporosis ISO RGD:1316413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteoporosis PMID:25741868|PMID:28492532 8711305 Ryr1 ryanodine receptor 1 gene DOID:11714 gestational diabetes ISO RGD:1316413 D RGD:9068941 20231130 RGD mRNA:decreased expression:placenta (human) PMID:36477942|REF_RGD_ID:401901174 8711305 Ryr1 ryanodine receptor 1 gene DOID:11836 clubfoot ISO RGD:1316413 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Congenital Talipes Equinovarus PMID:16380615|PMID:17033962|PMID:17365175|PMID:17483490|PMID:18253|PMID:18253926|PMID:21911697|PMID:22473935|PMID:25741868|PMID:28492532|PMID:30611313|PMID:7299413 8711305 Ryr1 ryanodine receptor 1 gene DOID:13100 intracranial vasospasm ISO RGD:1316413 D RGD:9068941 20230520 RGD associated with Subarachnoid Hemorrhage; c.6178G>T(rs35364374)(human) PMID:21503806|REF_RGD_ID:329811998 8711305 Ryr1 ryanodine receptor 1 gene DOID:14557 primary pulmonary hypertension ISO RGD:1316413 D RGD:9068941 20230520 RGD protein:increased phosphorylation:vastus lateralis PMID:23972212|REF_RGD_ID:329812002 8711305 Ryr1 ryanodine receptor 1 gene DOID:14717 centronuclear myopathy ISO RGD:1316413 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Centronuclear myopathy PMID:12136074|PMID:12565913|PMID:15221887|PMID:15731587|PMID:16199547|PMID:16372898|PMID:16380615|PMID:16917943|PMID:16940|PMID:16940308|PMID:17033962|PMID:17226826|PMID:17483490|PMID:17576681|PMID:18171678|PMID:18253926|PMID:18414213|PMID:19191333|PMID:19346234|PMID:19454545|PMID:19648156|PMID:19825159|PMID:20583297|PMID:20681998|PMID:20839240|PMID:21062345|PMID:21118704|PMID:21455645|PMID:21911697|PMID:21965348|PMID:22473935|PMID:22752422|PMID:22992668|PMID:23069638|PMID:23329375|PMID:23394784|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23826317|PMID:23919265|PMID:24033266|PMID:24195946|PMID:24433488|PMID:24951453|PMID:25214167|PMID:25326635|PMID:25428687|PMID:25635128|PMID:25741868|PMID:25747005|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25987458|PMID:26467025|PMID:27234031|PMID:27382027|PMID:27447704|PMID:27663056|PMID:27855725|PMID:28224104|PMID:28269792|PMID:28326467|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28527222|PMID:28818389|PMID:29298851|PMID:29635721|PMID:29802573|PMID:30236257|PMID:30611313|PMID:30788618|PMID:31127727|PMID:31517061|PMID:31680123|PMID:31903994|PMID:32236737|PMID:32528171|PMID:33333461|PMID:33726816|PMID:34426522|PMID:34463354|PMID:34535181|PMID:34809703|PMID:35693006|PMID:36283893|PMID:9536098 8711305 Ryr1 ryanodine receptor 1 gene DOID:1657 ventricular septal defect ISO RGD:1316413 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Ventricular septal defect PMID:16835904|PMID:24033266|PMID:25741868 8711305 Ryr1 ryanodine receptor 1 gene DOID:1686 glaucoma ISO RGD:1316413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glaucoma PMID:25741868|PMID:28492532 8711305 Ryr1 ryanodine receptor 1 gene DOID:1882 atrial heart septal defect ISO RGD:1316413 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:16835904|PMID:24033266|PMID:25741868 8711305 Ryr1 ryanodine receptor 1 gene DOID:2256 osteochondrodysplasia ISO RGD:1586637 D RGD:9068941 20230525 RGD mRNA,protein:increased expression:cartilage PMID:32619649|REF_RGD_ID:329845531 8711305 Ryr1 ryanodine receptor 1 gene DOID:2843 long QT syndrome ISO RGD:1316413 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23460944|PMID:25741868|PMID:26994242|PMID:28003660|PMID:28492532|PMID:35285867|PMID:35697689 8711305 Ryr1 ryanodine receptor 1 gene DOID:3529 congenital myopathy 1A ISO RGD:1316413 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Central core disease | ClinVar Annotator: match by term: Central core disease of muscle | ClinVar Annotator: match by term: Central core disease, autosomal recessive | ClinVar Annotator: match by term: Central core myopathy | ClinVar Annotator: match by term: Shy-Magee syndrome PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11113224|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12112081|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12161072|PMID:12208234|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434|PMID:12434264|PMID:12467748|PMID:12565913|PMID:12566385|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12937085|PMID:1329581|PMID:14500992|PMID:14670767|PMID:14708096|PMID:14732627|PMID:14985404|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958053|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17122579|PMID:17204054|PMID:17204937|PMID:17226826|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18063506|PMID:18171678|PMID:18193641|PMID:18253|PMID:18253926|PMID:18312400|PMID:18414213|PMID:18502356|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19645060|PMID:19648156|PMID:19658156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20461000|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21156754|PMID:21157159|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:21989361|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22550088|PMID:22705209|PMID:22734812|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24706162|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25517095|PMID:25521991|PMID:25525159|PMID:25614869|PMID:25628744|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25882082|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25987458|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26633545|PMID:26684984|PMID:26951757|PMID:26994242|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27447704|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28003660|PMID:28063098|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28325813|PMID:28326467|PMID:28357410|PMID:28403410|PMID:2842332|PMID:28424332|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28687594|PMID:28750945|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29556213|PMID:29576327|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30122538|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409 8711305 Ryr1 ryanodine receptor 1 gene DOID:3529 congenital myopathy 1A ISO RGD:1316413 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Central core disease | ClinVar Annotator: match by term: Central core disease of muscle | ClinVar Annotator: match by term: Central core disease, autosomal recessive | ClinVar Annotator: match by term: Central core myopathy | ClinVar Annotator: match by term: Shy-Magee syndrome PMID:30611313|PMID:30724636|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31135626|PMID:31165076|PMID:31206373|PMID:31304636|PMID:31321302|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31589614|PMID:31680123|PMID:31680349|PMID:31742715|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32098966|PMID:32236737|PMID:32403337|PMID:32528171|PMID:32573669|PMID:32665702|PMID:33146414|PMID:33258288|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34463354|PMID:34535181|PMID:34539730|PMID:34809703|PMID:35285867|PMID:35535697|PMID:4149045|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8828983|PMID:9030597|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9873004 8711305 Ryr1 ryanodine receptor 1 gene DOID:3529 congenital myopathy 1A ISO RGD:1316413 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Central core disease | ClinVar Annotator: match by term: Central core disease of muscle | ClinVar Annotator: match by term: Central core myopathy | ClinVar Annotator: match by term: Shy-Magee syndrome PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11113224|PMID:11135728|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11673462|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12123492|PMID:12124989|PMID:12151923|PMID:12161072|PMID:12208234|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434|PMID:12434264|PMID:12467748|PMID:12565913|PMID:12566385|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12937085|PMID:14500992|PMID:14670767|PMID:14708096|PMID:14732627|PMID:14985404|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16272262|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958053|PMID:16958617|PMID:17033962|PMID:17081125|PMID:17081152|PMID:17122579|PMID:17204054|PMID:17204937|PMID:17226826|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17667681|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18063506|PMID:1810122|PMID:18171678|PMID:18193641|PMID:18253|PMID:18253926|PMID:18312400|PMID:18414213|PMID:18502356|PMID:18564801|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19645060|PMID:19648156|PMID:19658156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20301565|PMID:20461000|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:21989361|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22418739|PMID:22473935|PMID:22550088|PMID:22705209|PMID:22734812|PMID:22851008|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24706162|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25370123|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25517095|PMID:25521991|PMID:25525159|PMID:25614869|PMID:25628744|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25882082|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25987458|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26633545|PMID:26684984|PMID:26951757|PMID:26972305|PMID:26994242|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27447704|PMID:27545679|PMID:27558158|PMID:27586648|PMID:27616680|PMID:27646467|PMID:27708273|PMID:27831900|PMID:27854218|PMID:27855725|PMID:27857962|PMID:27858745|PMID:27918309|PMID:28003660|PMID:28007021|PMID:28063098|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28325813|PMID:28326467|PMID:28357410|PMID:28403410|PMID:2842332|PMID:28424332|PMID:28492532|PMID:28496993|PMID:28687594|PMID:28750945|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29556213|PMID:29576327 8711305 Ryr1 ryanodine receptor 1 gene DOID:3529 congenital myopathy 1A ISO RGD:1316413 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Central core disease | ClinVar Annotator: match by term: Central core disease of muscle | ClinVar Annotator: match by term: Central core myopathy | ClinVar Annotator: match by term: Shy-Magee syndrome PMID:29629541|PMID:29635721|PMID:29669168|PMID:29701772|PMID:29792937|PMID:30122538|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:30872186|PMID:31016048|PMID:31055738|PMID:31107960|PMID:31127727|PMID:31130284|PMID:31135626|PMID:31165076|PMID:31206373|PMID:31301762|PMID:31304636|PMID:31321302|PMID:31395954|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31589614|PMID:31618753|PMID:31680123|PMID:31680349|PMID:31742715|PMID:31851124|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32098966|PMID:32236737|PMID:32304219|PMID:32371413|PMID:32403337|PMID:32528171|PMID:32665702|PMID:32861507|PMID:33037202|PMID:33146414|PMID:33258288|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33646171|PMID:33758288|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34316023|PMID:34411415|PMID:34426522|PMID:34428338|PMID:34440373|PMID:34463354|PMID:34535181|PMID:34539730|PMID:34595679|PMID:34625927|PMID:34645488|PMID:34809703|PMID:34904211|PMID:35081925|PMID:35285867|PMID:35428369|PMID:35535697|PMID:35549722|PMID:35587316|PMID:35599849|PMID:35627144|PMID:35693006|PMID:35697689|PMID:36208971|PMID:3626847|PMID:36283893|PMID:36474027|PMID:36628841|PMID:36757698|PMID:37273706|PMID:37510298|PMID:37541188|PMID:37712079|PMID:37937776|PMID:38582058|PMID:39033378|PMID:4149045|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8010475|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8828983|PMID:9030597|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9873004 8711305 Ryr1 ryanodine receptor 1 gene DOID:3529 congenital myopathy 1A ISO RGD:1316413 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Central core disease | ClinVar Annotator: match by term: Central core disease of muscle | ClinVar Annotator: match by term: Central core disease, autosomal recessive | ClinVar Annotator: match by term: Central core myopathy | ClinVar Annotator: match by term: Shy-Magee syndrome PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:1069529|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11113224|PMID:11135728|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11673462|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12123492|PMID:12124989|PMID:12151923|PMID:12161072|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434|PMID:12434264|PMID:12467748|PMID:12565913|PMID:12566385|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12719381|PMID:12732639|PMID:12937085|PMID:14500992|PMID:14670767|PMID:14708096|PMID:14732627|PMID:14985404|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16272262|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958053|PMID:16958617|PMID:17033962|PMID:17081125|PMID:17081152|PMID:17122579|PMID:17204054|PMID:17204937|PMID:17226826|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17667681|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18063506|PMID:1810122|PMID:18171678|PMID:18193641|PMID:18253|PMID:18253926|PMID:18312400|PMID:18414213|PMID:18502356|PMID:18505122|PMID:18564|PMID:18564801|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19645060|PMID:19648156|PMID:19658156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20301565|PMID:20461000|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:21989361|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22418739|PMID:22473935|PMID:22550088|PMID:22696611|PMID:22705209|PMID:22734812|PMID:22851008|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24706162|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25370123|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25517095|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25614869|PMID:25628744|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25882082|PMID:25944380|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25987458|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26631338|PMID:26633545|PMID:26684984|PMID:26951757|PMID:26972305|PMID:26994242|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27447704|PMID:27545679|PMID:27558158|PMID:27586648|PMID:27616680|PMID:27646467|PMID:27708273|PMID:27831900|PMID:27854218|PMID:27855725|PMID:27857962|PMID:27858745|PMID:27918309|PMID:28003660|PMID:28007021|PMID:28063098|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28325813|PMID:28326467|PMID:28357410|PMID:28403410|PMID:2842332|PMID:28424332|PMID:28492532|PMID:28496993|PMID:28687594|PMID:28750945 8711305 Ryr1 ryanodine receptor 1 gene DOID:3529 congenital myopathy 1A ISO RGD:1316413 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Central core disease | ClinVar Annotator: match by term: Central core disease of muscle | ClinVar Annotator: match by term: Central core disease, autosomal recessive | ClinVar Annotator: match by term: Central core myopathy | ClinVar Annotator: match by term: Shy-Magee syndrome PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29556213|PMID:29576327|PMID:29629541|PMID:29635721|PMID:29669168|PMID:29701772|PMID:29792937|PMID:29802573|PMID:30122538|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:30872186|PMID:31016048|PMID:31055738|PMID:31107960|PMID:31127727|PMID:31130284|PMID:31135626|PMID:31165076|PMID:31206373|PMID:31301762|PMID:31304636|PMID:31321302|PMID:31395954|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31589614|PMID:31618753|PMID:31680123|PMID:31680349|PMID:31742715|PMID:31851124|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32098966|PMID:32236737|PMID:32304219|PMID:32371413|PMID:32381727|PMID:32403337|PMID:32528171|PMID:32665702|PMID:32861507|PMID:33037202|PMID:33124102|PMID:33146414|PMID:33176865|PMID:33258288|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33625594|PMID:33646171|PMID:33758288|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34316023|PMID:34411415|PMID:34426522|PMID:34428338|PMID:34440373|PMID:34463354|PMID:34528764|PMID:34535181|PMID:34539730|PMID:34595679|PMID:34625927|PMID:34645488|PMID:34707284|PMID:34809703|PMID:34849273|PMID:34904211|PMID:35081925|PMID:35178478|PMID:35285867|PMID:35361824|PMID:35428369|PMID:35535697|PMID:35549722|PMID:35587316|PMID:35599849|PMID:35627144|PMID:35693006|PMID:35697689|PMID:35718563|PMID:36208971|PMID:3626847|PMID:36283893|PMID:36474027|PMID:36628841|PMID:36697461|PMID:36757698|PMID:36833224|PMID:37273706|PMID:37432431|PMID:37510298|PMID:37541188|PMID:37712079|PMID:37787745|PMID:37838930|PMID:37937776|PMID:38582058|PMID:39033378|PMID:4149045|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8010475|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8828983|PMID:9030597|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9873004 8711305 Ryr1 ryanodine receptor 1 gene DOID:3529 congenital myopathy 1A susceptibility ISO RGD:1316413 D RGD:7240710 20250312 OMIM 8711305 Ryr1 ryanodine receptor 1 gene DOID:3635 congenital myasthenic syndrome ISO RGD:1316413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome PMID:25741868|PMID:28492532 8711305 Ryr1 ryanodine receptor 1 gene DOID:422 congenital structural myopathy ISO RGD:1316413 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy | ClinVar Annotator: match by term: Myotubular myopathy PMID:10097181|PMID:11274444|PMID:11575529|PMID:11709545|PMID:11741831|PMID:12123492|PMID:12642598|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15448513|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16380615|PMID:16621918|PMID:16732084|PMID:16917943|PMID:16940|PMID:16940308|PMID:17033962|PMID:17081152|PMID:17365175|PMID:1743490|PMID:17483490|PMID:18171678|PMID:18253|PMID:18253926|PMID:18414213|PMID:18564801|PMID:18765655|PMID:19191333|PMID:19513315|PMID:19648156|PMID:19685112|PMID:19825159|PMID:20142353|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:21062345|PMID:21157159|PMID:21674524|PMID:21825032|PMID:21911697|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22992668|PMID:23329375|PMID:23394784|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23919265|PMID:24033266|PMID:24088041|PMID:24195946|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24950660|PMID:25084811|PMID:25214167|PMID:25256590|PMID:25326635|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25989378|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26633545|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28166811|PMID:28224104|PMID:28259615|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28818389|PMID:29172004|PMID:29293505|PMID:29298851|PMID:29382405|PMID:30115273|PMID:30155738|PMID:30236257|PMID:30611313|PMID:30652412|PMID:30788618|PMID:31055738|PMID:31127727|PMID:31407473|PMID:31559918|PMID:31680123|PMID:31903994|PMID:32528171|PMID:33333461|PMID:34008892|PMID:4149045|PMID:7299413|PMID:8661021|PMID:9199552 8711305 Ryr1 ryanodine receptor 1 gene DOID:422 congenital structural myopathy ISO RGD:1316413 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy | ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy | ClinVar Annotator: match by term: Myotubular myopathy PMID:10097181|PMID:11274444|PMID:11709545|PMID:11741831|PMID:12123492|PMID:12642598|PMID:15175001|PMID:15210166|PMID:15221887|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16380615|PMID:16621918|PMID:16732084|PMID:16917943|PMID:16940|PMID:16940308|PMID:17033962|PMID:17081152|PMID:17365175|PMID:1743490|PMID:17483490|PMID:18171678|PMID:18253|PMID:18253926|PMID:18414213|PMID:18564801|PMID:18765655|PMID:19191333|PMID:19513315|PMID:19648156|PMID:19685112|PMID:19825159|PMID:20142353|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:21062345|PMID:21157159|PMID:21674524|PMID:21825032|PMID:21911697|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22992668|PMID:23329375|PMID:23394784|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23919265|PMID:24033266|PMID:24088041|PMID:24195946|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24950660|PMID:25084811|PMID:25214167|PMID:25256590|PMID:25326635|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25989378|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26633545|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28224104|PMID:28259615|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28818389|PMID:29172004|PMID:29298851|PMID:29382405|PMID:30115273|PMID:30155738|PMID:30236257|PMID:30611313|PMID:30652412|PMID:30788618|PMID:31055738|PMID:31127727|PMID:31407473|PMID:31559918|PMID:31680123|PMID:31903994|PMID:32528171|PMID:32978841|PMID:33333461|PMID:34008892|PMID:34463354|PMID:4149045|PMID:7299413|PMID:8661021|PMID:9199552 8711305 Ryr1 ryanodine receptor 1 gene DOID:422 congenital structural myopathy ISO RGD:1316413 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy | ClinVar Annotator: match by term: Myotubular myopathy PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10756965|PMID:10823104|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12123492|PMID:12124989|PMID:12151923|PMID:12208234|PMID:12237752|PMID:12411788|PMID:12434264|PMID:12642598|PMID:12700608|PMID:12732639|PMID:12937085|PMID:1329581|PMID:14500992|PMID:14670767|PMID:14732627|PMID:14985404|PMID:1510267|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16272262|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18171678|PMID:18193641|PMID:18253|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18564801|PMID:1862346|PMID:18765655|PMID:18813041|PMID:19191329|PMID:19191333|PMID:19346234|PMID:19513315|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21157159|PMID:21455645|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24195946|PMID:24215330|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25476234|PMID:25517095|PMID:25525159|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25989378|PMID:26019235|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26633545|PMID:26951757|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27854218|PMID:27918309|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30115273|PMID:30155738|PMID:30236257|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30652412|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31165076|PMID:31206373|PMID:31304636|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31680123|PMID:31680349|PMID:31903994|PMID:31994743|PMID:32236737|PMID:32403337|PMID:32528171|PMID:32665702|PMID:32978841|PMID:33146414|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34463354|PMID:35285867|PMID:35535697|PMID:4149045|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7889656|PMID:8401544|PMID:8602662|PMID:8661021|PMID:8828983|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9873004 8711305 Ryr1 ryanodine receptor 1 gene DOID:422 congenital structural myopathy ISO RGD:1316413 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy | ClinVar Annotator: match by term: Myotubular myopathy PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10756965|PMID:10823104|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12123492|PMID:12124989|PMID:12151923|PMID:12208234|PMID:12237752|PMID:12411788|PMID:12434264|PMID:12642598|PMID:12700608|PMID:12732639|PMID:12937085|PMID:1329581|PMID:14500992|PMID:14670767|PMID:14732627|PMID:14985404|PMID:1510267|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16163667|PMID:16199547|PMID:16272262|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18171678|PMID:18193641|PMID:18253|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18564801|PMID:1862346|PMID:18765655|PMID:18813041|PMID:19191329|PMID:19191333|PMID:19346234|PMID:19513315|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21157159|PMID:21455645|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22418739|PMID:22473935|PMID:22851008|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24195946|PMID:24215330|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25476234|PMID:25517095|PMID:25525159|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25989378|PMID:26019235|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26633545|PMID:26951757|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27854218|PMID:27918309|PMID:28007021|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30115273|PMID:30155738|PMID:30236257|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30652412|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31165076|PMID:31206373|PMID:31304636|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31680123|PMID:31680349|PMID:31903994|PMID:31994743|PMID:32236737|PMID:32403337|PMID:32528171|PMID:32665702|PMID:32978841|PMID:33146414|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34463354|PMID:35285867|PMID:35428369|PMID:35535697|PMID:35548885|PMID:35599849|PMID:36208971|PMID:36628841|PMID:4149045|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7889656|PMID:8401544|PMID:8602662|PMID:8661021|PMID:8828983|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9873004 8711305 Ryr1 ryanodine receptor 1 gene DOID:422 congenital structural myopathy ISO RGD:1316413 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy | ClinVar Annotator: match by term: Myotubular myopathy PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10756965|PMID:10823104|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12123492|PMID:12124989|PMID:12151923|PMID:12208234|PMID:12237752|PMID:12411788|PMID:12434264|PMID:12565913|PMID:12642598|PMID:12700608|PMID:12732639|PMID:12937085|PMID:1329581|PMID:14500992|PMID:14670767|PMID:14732627|PMID:14985404|PMID:1510267|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16272262|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17204937|PMID:17226826|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18063506|PMID:1810122|PMID:18171678|PMID:18193641|PMID:18253|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18564801|PMID:1862346|PMID:18765655|PMID:18813041|PMID:19191329|PMID:19191333|PMID:19346234|PMID:19513315|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21157159|PMID:21455645|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22418739|PMID:22473935|PMID:22851008|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24195946|PMID:24215330|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25476234|PMID:25517095|PMID:25525159|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26633545|PMID:26951757|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27452334|PMID:27545679|PMID:27558158|PMID:27586648|PMID:27616680|PMID:27646467|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28007021|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28326467|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29629541|PMID:29635721|PMID:29701772|PMID:29792937|PMID:30115273|PMID:30122538|PMID:30155738|PMID:30236257|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30652412|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:30872186|PMID:31016048|PMID:31055738|PMID:31107960|PMID:31127727|PMID:31165076|PMID:31206373|PMID:31304636|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31680123|PMID:31680349|PMID:31851124|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32236737|PMID:32304219|PMID:32403337|PMID:32528171|PMID:32665702|PMID:32978841|PMID:33037202|PMID:33146414|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34316023|PMID:34411415|PMID:34428338|PMID:34440373|PMID:34463354|PMID:34625927|PMID:34645488|PMID:34904211|PMID:35081925|PMID:35285867|PMID:35428369|PMID:35535697|PMID:35548885|PMID:35549722|PMID:35599849|PMID:35627144|PMID:36208971|PMID:36283893|PMID:36628841|PMID:37273706|PMID:37510298|PMID:4149045|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7586638 8711305 Ryr1 ryanodine receptor 1 gene DOID:422 congenital structural myopathy ISO RGD:1316413 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy | ClinVar Annotator: match by term: Myotubular myopathy PMID:7633940|PMID:7751854|PMID:7762556|PMID:7889656|PMID:8401544|PMID:8602662|PMID:8661021|PMID:8828983|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9873004 8711305 Ryr1 ryanodine receptor 1 gene DOID:422 congenital structural myopathy ISO RGD:1316413 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy | ClinVar Annotator: match by term: Myotubular myopathy PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10756965|PMID:10823104|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12208234|PMID:12237752|PMID:12411788|PMID:12434264|PMID:12565913|PMID:12642598|PMID:12700608|PMID:12732639|PMID:12937085|PMID:14500992|PMID:14670767|PMID:14732627|PMID:14985404|PMID:1510267|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16272262|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17204937|PMID:17226826|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18063506|PMID:1810122|PMID:18171678|PMID:18193641|PMID:18253|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18564801|PMID:18765655|PMID:18813041|PMID:19191329|PMID:19191333|PMID:19346234|PMID:19454545|PMID:19513315|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21157159|PMID:21455645|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22418739|PMID:22473935|PMID:22851008|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24195946|PMID:24215330|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25476234|PMID:25517095|PMID:25525159|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26633545|PMID:26833332|PMID:26951757|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27234031|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27452334|PMID:27545679|PMID:27558158|PMID:27586648|PMID:27616680|PMID:27646467|PMID:27663056|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28007021|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28326467|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28527222|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29629541|PMID:29635721|PMID:29701772|PMID:29792937|PMID:30115273|PMID:30122538|PMID:30155738|PMID:30236257|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30652412|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:30872186|PMID:31016048|PMID:31055738|PMID:31107960|PMID:31127727|PMID:31165076|PMID:31206373|PMID:31304636|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31680123|PMID:31680349|PMID:31851124|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32236737|PMID:32304219|PMID:32403337|PMID:32528171|PMID:32665702|PMID:32978841|PMID:33037202|PMID:33146414|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33646171|PMID:33726816|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34316023|PMID:34411415|PMID:34426522|PMID:34428338|PMID:34440373|PMID:34463354|PMID:34625927|PMID:34645488|PMID:34904211|PMID:35081925|PMID:35285867|PMID:35428369|PMID:35535697|PMID:35548885|PMID:35549722|PMID:35599849|PMID:35627144|PMID:35697689|PMID:36208971 8711305 Ryr1 ryanodine receptor 1 gene DOID:422 congenital structural myopathy ISO RGD:1316413 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy | ClinVar Annotator: match by term: Myotubular myopathy PMID:36283893|PMID:36474027|PMID:36628841|PMID:37273706|PMID:37510298|PMID:37937776|PMID:4149045|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7889656|PMID:8401544|PMID:8602662|PMID:8661021|PMID:8828983|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9873004 8711305 Ryr1 ryanodine receptor 1 gene DOID:422 congenital structural myopathy ISO RGD:1316413 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy | ClinVar Annotator: match by term: Myotubular myopathy PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10756965|PMID:10823104|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12208234|PMID:12237752|PMID:12411788|PMID:12434264|PMID:12565913|PMID:12642598|PMID:12700608|PMID:12732639|PMID:12937085|PMID:14500992|PMID:14670767|PMID:14732627|PMID:14985404|PMID:1510267|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16272262|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17204937|PMID:17226826|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18063506|PMID:1810122|PMID:18171678|PMID:18193641|PMID:18253|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18564801|PMID:18765655|PMID:18813041|PMID:19191329|PMID:19191333|PMID:19346234|PMID:19454545|PMID:19513315|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21157159|PMID:21455645|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22418739|PMID:22473935|PMID:22851008|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24195946|PMID:24215330|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25476234|PMID:25517095|PMID:25525159|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25944380|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26633545|PMID:26951757|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27234031|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27452334|PMID:27545679|PMID:27558158|PMID:27586648|PMID:27616680|PMID:27646467|PMID:27663056|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28007021|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28326467|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28527222|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29629541|PMID:29635721|PMID:29701772|PMID:29792937|PMID:30115273|PMID:30122538|PMID:30155738|PMID:30236257|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30652412|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:30872186|PMID:31016048|PMID:31055738|PMID:31107960|PMID:31127727|PMID:31165076|PMID:31206373|PMID:31304636|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31680123|PMID:31680349|PMID:31851124|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32236737|PMID:32304219|PMID:32403337|PMID:32528171|PMID:32665702|PMID:32978841|PMID:33037202|PMID:33146414|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33646171|PMID:33726816|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34316023|PMID:34411415|PMID:34426522|PMID:34428338|PMID:34440373|PMID:34463354|PMID:34625927|PMID:34645488|PMID:34904211|PMID:35081925|PMID:35285867|PMID:35428369|PMID:35535697|PMID:35548885|PMID:35549722|PMID:35599849|PMID:35627144|PMID:35697689|PMID:36208971 8711305 Ryr1 ryanodine receptor 1 gene DOID:422 congenital structural myopathy ISO RGD:1316413 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy | ClinVar Annotator: match by term: Myotubular myopathy PMID:36283893|PMID:36474027|PMID:36628841|PMID:37273706|PMID:37510298|PMID:37541188|PMID:37937776|PMID:4149045|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7889656|PMID:8401544|PMID:8602662|PMID:8661021|PMID:8828983|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9873004 8711305 Ryr1 ryanodine receptor 1 gene DOID:422 congenital structural myopathy ISO RGD:1316413 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy | ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy | ClinVar Annotator: match by term: MYOTUBULAR MYOPATHY 1 | ClinVar Annotator: match by term: Myotubular myopathy PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10756965|PMID:10823104|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12208234|PMID:12237752|PMID:12411788|PMID:12434264|PMID:12565913|PMID:12642598|PMID:12700608|PMID:12732639|PMID:12937085|PMID:14500992|PMID:14670767|PMID:14732627|PMID:14985404|PMID:1510267|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16272262|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17204937|PMID:17226826|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18063506|PMID:1810122|PMID:18171678|PMID:18193641|PMID:18253|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18564801|PMID:18765655|PMID:18813041|PMID:19191329|PMID:19191333|PMID:19346234|PMID:19454545|PMID:19513315|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21157159|PMID:21455645|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22418739|PMID:22473935|PMID:22851008|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24195946|PMID:24215330|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25476234|PMID:25517095|PMID:25525159|PMID:25635128|PMID:25637381|PMID:25658027|PMID:2567381|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25987458|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26633545|PMID:26951757|PMID:26972305|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27234031|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27447704|PMID:27452334|PMID:27545679|PMID:27558158|PMID:27586648|PMID:27616680|PMID:27646467|PMID:27663056|PMID:27854218|PMID:27855725|PMID:27857962|PMID:27918309|PMID:28007021|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28326467|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28527222|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29629541|PMID:29635721|PMID:29701772|PMID:29792937|PMID:29802573|PMID:30115273|PMID:30122538|PMID:30155738|PMID:30236257|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30652412|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:30872186|PMID:31016048|PMID:31055738|PMID:31107960|PMID:31127727|PMID:31165076|PMID:31206373|PMID:31304636|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31680123|PMID:31680349|PMID:31851124|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32236737|PMID:32304219|PMID:32403337|PMID:32528171|PMID:32665702|PMID:32978841|PMID:33037202|PMID:33146414|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33646171|PMID:33726816|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34316023|PMID:34411415|PMID:34426522|PMID:34428338|PMID:34440373|PMID:34463354|PMID:34535181|PMID:34625927|PMID:34645488|PMID:34809703|PMID:34904211|PMID:35081925|PMID:35285867|PMID:35428369 8711305 Ryr1 ryanodine receptor 1 gene DOID:422 congenital structural myopathy ISO RGD:1316413 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy | ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy | ClinVar Annotator: match by term: MYOTUBULAR MYOPATHY 1 | ClinVar Annotator: match by term: Myotubular myopathy PMID:35535697|PMID:35548885|PMID:35549722|PMID:35599849|PMID:35627144|PMID:35693006|PMID:35697689|PMID:36208971|PMID:36283893|PMID:36474027|PMID:36628841|PMID:36757698|PMID:36939041|PMID:37273706|PMID:37510298|PMID:37541188|PMID:37712079|PMID:37937776|PMID:4149045|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7889656|PMID:8401544|PMID:8602662|PMID:8661021|PMID:8828983|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9873004 8711305 Ryr1 ryanodine receptor 1 gene DOID:422 congenital structural myopathy ISO RGD:1316413 D RGD:8554872 20250218 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy | ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy | ClinVar Annotator: match by term: Myotubular myopathy PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10756965|PMID:10823104|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12208234|PMID:12237752|PMID:12411788|PMID:12434264|PMID:12565913|PMID:12642598|PMID:12700608|PMID:12732639|PMID:12937085|PMID:14500992|PMID:14670767|PMID:14732627|PMID:14985404|PMID:1510267|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16272262|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17204937|PMID:17226826|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18063506|PMID:18171678|PMID:18193641|PMID:18253|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18564801|PMID:18765655|PMID:18813041|PMID:19191329|PMID:19191333|PMID:19346234|PMID:19454545|PMID:19513315|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21157159|PMID:21455645|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22851008|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24195946|PMID:24215330|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25476234|PMID:25517095|PMID:25525159|PMID:25635128|PMID:25637381|PMID:25658027|PMID:2567381|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25987458|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26633545|PMID:26951757|PMID:26972305|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27234031|PMID:27363342|PMID:27382027|PMID:27447704|PMID:27452334|PMID:27545679|PMID:27558158|PMID:27586648|PMID:27616680|PMID:27646467|PMID:27663056|PMID:27854218|PMID:27855725|PMID:27857962|PMID:27918309|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28326467|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28527222|PMID:28818389|PMID:29172004|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29629541|PMID:29635721|PMID:29701772|PMID:29792937|PMID:29802573|PMID:30115273|PMID:30122538|PMID:30155738|PMID:30236257|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30652412|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:30872186|PMID:31016048|PMID:31055738|PMID:31107960|PMID:31127727|PMID:31165076|PMID:31206373|PMID:31301762|PMID:31304636|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31680123|PMID:31680349|PMID:31851124|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32236737|PMID:32304219|PMID:32403337|PMID:32528171|PMID:32665702|PMID:32978841|PMID:33037202|PMID:33146414|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33646171|PMID:33726816|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34316023|PMID:34411415|PMID:34426522|PMID:34428338|PMID:34440373|PMID:34463354|PMID:34535181|PMID:34625927|PMID:34645488|PMID:34707284|PMID:34809703|PMID:35081925|PMID:35285867|PMID:35428369|PMID:35535697|PMID:35548885|PMID:35549722|PMID:35599849|PMID:35627144 8711305 Ryr1 ryanodine receptor 1 gene DOID:422 congenital structural myopathy ISO RGD:1316413 D RGD:8554872 20250218 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy | ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy | ClinVar Annotator: match by term: Myotubular myopathy PMID:35693006|PMID:35697689|PMID:36208971|PMID:36283893|PMID:36474027|PMID:36628841|PMID:36757698|PMID:36939041|PMID:37273706|PMID:37510298|PMID:37541188|PMID:37712079|PMID:37937776|PMID:4149045|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7889656|PMID:8401544|PMID:8602662|PMID:8661021|PMID:8828983|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9873004 8711305 Ryr1 ryanodine receptor 1 gene DOID:422 congenital structural myopathy ISO RGD:1316413 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy | ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy | ClinVar Annotator: match by term: Myotubular myopathy PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10756965|PMID:10823104|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12208234|PMID:12237752|PMID:12411788|PMID:12434264|PMID:12565913|PMID:12642598|PMID:12700608|PMID:12732639|PMID:12937085|PMID:14500992|PMID:14670767|PMID:14732627|PMID:14985404|PMID:1510267|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16272262|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17204937|PMID:17226826|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18063506|PMID:18171678|PMID:18193641|PMID:18253|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18564801|PMID:18765655|PMID:18813041|PMID:19191329|PMID:19191333|PMID:19346234|PMID:19454545|PMID:19513315|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21455645|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22851008|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25476234|PMID:25517095|PMID:25525159|PMID:25635128|PMID:25637381|PMID:25658027|PMID:2567381|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25944380|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25987458|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26633545|PMID:26951757|PMID:26972305|PMID:26994242|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27234031|PMID:27363342|PMID:27382027|PMID:27447704|PMID:27452334|PMID:27545679|PMID:27558158|PMID:27586648|PMID:27616680|PMID:27646467|PMID:27663056|PMID:27854218|PMID:27855725|PMID:27857962|PMID:27858745|PMID:27918309|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28326467|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28527222|PMID:28818389|PMID:29172004|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29629541|PMID:29635721|PMID:29701772|PMID:29792937|PMID:29802573|PMID:30115273|PMID:30122538|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30652412|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:30872186|PMID:31016048|PMID:31055738|PMID:31107960|PMID:31127727|PMID:31165076|PMID:31206373|PMID:31301762|PMID:31304636|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31680123|PMID:31680349|PMID:31851124|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32236737|PMID:32304219|PMID:32403337|PMID:32528171|PMID:32665702|PMID:32978841|PMID:33037202|PMID:33124102|PMID:33146414|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33646171|PMID:33726816|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34316023|PMID:34411415|PMID:34426522|PMID:34428338|PMID:34440373|PMID:34463354|PMID:34535181|PMID:34625927|PMID:34645488|PMID:34707284|PMID:34809703 8711305 Ryr1 ryanodine receptor 1 gene DOID:422 congenital structural myopathy ISO RGD:1316413 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy | ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy | ClinVar Annotator: match by term: Myotubular myopathy PMID:35081925|PMID:35178478|PMID:35285867|PMID:35428369|PMID:35535697|PMID:35548885|PMID:35549722|PMID:35599849|PMID:35627144|PMID:35693006|PMID:35697689|PMID:35718563|PMID:36208971|PMID:36283893|PMID:36474027|PMID:36628841|PMID:36757698|PMID:36833224|PMID:36939041|PMID:37273706|PMID:37432431|PMID:37510298|PMID:37541188|PMID:37712079|PMID:37838930|PMID:37937776|PMID:39825153|PMID:4149045|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7889656|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8828983|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9873004 8711305 Ryr1 ryanodine receptor 1 gene DOID:423 myopathy ISO RGD:1316413 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Myopathy PMID:16199547|PMID:20583297|PMID:20839240|PMID:22473935|PMID:23553787|PMID:23919265|PMID:25741868|PMID:25960145|PMID:28492532|PMID:28818389|PMID:30236257|PMID:30611313|PMID:34625927|PMID:36307859 8711305 Ryr1 ryanodine receptor 1 gene DOID:440 neuromuscular disease ISO RGD:1316413 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Neuromuscular disorder PMID:16380615|PMID:16917943|PMID:17033962|PMID:17365175|PMID:17483490|PMID:17576681|PMID:18253|PMID:18253926|PMID:18414213|PMID:19191329|PMID:19645060|PMID:20080402|PMID:20839240|PMID:21062345|PMID:21455645|PMID:21911697|PMID:22473935|PMID:23069638|PMID:23394784|PMID:23553484|PMID:23553787|PMID:23628358|PMID:23919265|PMID:24033266|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24627108|PMID:24951453|PMID:25476234|PMID:25525159|PMID:25637381|PMID:25658027|PMID:2567381|PMID:25735680|PMID:25741868|PMID:25960145|PMID:26019235|PMID:26068069|PMID:26332594|PMID:26467025|PMID:26633545|PMID:27447704|PMID:27452334|PMID:27854218|PMID:28492532|PMID:28818389|PMID:30236257|PMID:30609409|PMID:30611313|PMID:30652412|PMID:30842289|PMID:30872186|PMID:31407473|PMID:31680123|PMID:31680349|PMID:32403337|PMID:32978841|PMID:33190635|PMID:33333461|PMID:34106991|PMID:34428338|PMID:34463354|PMID:35548885|PMID:35627144|PMID:35849058|PMID:36939041|PMID:37510298|PMID:39825153|PMID:7299413|PMID:9536098 8711305 Ryr1 ryanodine receptor 1 gene DOID:4450 renal cell carcinoma ISO RGD:1316413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138691 8711305 Ryr1 ryanodine receptor 1 gene DOID:543 dystonia ISO RGD:1316413 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25741868|PMID:30755392 8711305 Ryr1 ryanodine receptor 1 gene DOID:5844 myocardial infarction ISO RGD:1586637 D RGD:9068941 20230525 RGD protein:hyperphosphorylation:extensor digitorum longus: PMID:12824280|REF_RGD_ID:329813076 8711305 Ryr1 ryanodine receptor 1 gene DOID:6000 congestive heart failure ISO RGD:1316413 D RGD:9068941 20230525 RGD PMID:29593014|REF_RGD_ID:329813079 8711305 Ryr1 ryanodine receptor 1 gene DOID:6000 congestive heart failure ISO RGD:1316414 D RGD:9068941 20230525 RGD PMID:29593014|REF_RGD_ID:329813079 8711305 Ryr1 ryanodine receptor 1 gene DOID:630 genetic disease ISO RGD:1316413 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10051009|PMID:10097041|PMID:10352931|PMID:10484775|PMID:10700782|PMID:10756965|PMID:10793526|PMID:11448278|PMID:11493496|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12066726|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434264|PMID:12565913|PMID:12732639|PMID:12937085|PMID:14500992|PMID:14670767|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15281512|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16272262|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:17033962|PMID:17081125|PMID:17081152|PMID:17226826|PMID:17483490|PMID:17667581|PMID:17667681|PMID:17710899|PMID:1774073|PMID:1774074|PMID:18193641|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18505122|PMID:18564|PMID:18564801|PMID:18765655|PMID:18945287|PMID:19191329|PMID:19191333|PMID:19346234|PMID:19513315|PMID:19645060|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19919814|PMID:20142353|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20952238|PMID:21062345|PMID:21118704|PMID:21157159|PMID:21455645|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21965348|PMID:22473935|PMID:22550088|PMID:22696611|PMID:22992668|PMID:23069638|PMID:23183335|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23842196|PMID:23919265|PMID:24013571|PMID:24033266|PMID:24091937|PMID:24195946|PMID:24433488|PMID:24561095|PMID:24706162|PMID:25214167|PMID:25268394|PMID:25517095|PMID:25558065|PMID:25628744|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25882082|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25987458|PMID:25989378|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26578207|PMID:26951757|PMID:26994242|PMID:27147545|PMID:27382027|PMID:27431030|PMID:27447704|PMID:27573175|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27855725|PMID:27918309|PMID:28063098|PMID:28326467|PMID:28403410|PMID:28492532|PMID:28527222|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29178655|PMID:29382405|PMID:29635721|PMID:29669168|PMID:29792937|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30406384|PMID:30499100|PMID:30611313|PMID:30788618|PMID:31016048|PMID:31130284|PMID:31135626|PMID:31206373|PMID:31301762|PMID:31321302|PMID:31447099|PMID:31559918|PMID:31589614|PMID:31841587|PMID:32054689|PMID:32236737|PMID:32403337|PMID:32528171|PMID:32665702|PMID:33146414|PMID:33333461|PMID:33458582|PMID:33625594|PMID:34008892|PMID:34106991|PMID:34426522|PMID:34440373|PMID:34463354|PMID:34535181|PMID:34625927|PMID:34809703|PMID:34849273|PMID:34904211|PMID:35081925|PMID:35428369|PMID:35535697|PMID:35627144|PMID:35693006|PMID:35718563|PMID:35849058|PMID:36131268|PMID:36283893|PMID:36757698|PMID:36833224|PMID:37432431|PMID:37541188|PMID:37787745|PMID:37838930|PMID:37937776|PMID:4149045|PMID:7511586|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8401544|PMID:8602662|PMID:8661021|PMID:8828983|PMID:9030597|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9497245|PMID:9520251|PMID:9873004 8711305 Ryr1 ryanodine receptor 1 gene DOID:6432 pulmonary hypertension ISO RGD:1586637 D RGD:9068941 20230525 RGD protein:altered localization: : PMID:24692174|REF_RGD_ID:329813077 8711305 Ryr1 ryanodine receptor 1 gene DOID:66 muscle tissue disease ISO RGD:1316413 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Muscle tissue disorder 8711305 Ryr1 ryanodine receptor 1 gene DOID:8534 gastroesophageal reflux disease ISO RGD:1316413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastroesophageal reflux PMID:25741868|PMID:28492532 8711305 Ryr1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Hyperpyrexia, malignant | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia susceptibility | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11113224|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11525881|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12161072|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12883402|PMID:12937085|PMID:1329581|PMID:1354642|PMID:14500992|PMID:14670767|PMID:14708096|PMID:14732627|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16244682|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732080|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17122579|PMID:17204937|PMID:17226826|PMID:17293538|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:18063506|PMID:18171678|PMID:18193641|PMID:18212565|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18564|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19541610|PMID:19645060|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20439600|PMID:20461000|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21088110|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21282829|PMID:214555645|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22526018|PMID:22550088|PMID:22705209|PMID:22734812|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24013571|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24706162|PMID:24950660|PMID:24951453|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25356970|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25611019|PMID:25614869|PMID:25628744|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26631338|PMID:26633545|PMID:26684984|PMID:26951757|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27382027|PMID:27431030|PMID:27555149|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27854218|PMID:27857962|PMID:28003660|PMID:28063098|PMID:28078069|PMID:28166811|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28325813|PMID:28326467|PMID:28403410|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29576327|PMID:29608462|PMID:29635721|PMID:30115273|PMID:30122538|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384 8711305 Ryr1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Hyperpyrexia, malignant | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia susceptibility | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 PMID:30499100|PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:31016048|PMID:31055738|PMID:31135626|PMID:31206373|PMID:31321302|PMID:31447099|PMID:31559918|PMID:31589614|PMID:31680349|PMID:31903994|PMID:32054689|PMID:32236737|PMID:32528171|PMID:32665702|PMID:33146414|PMID:33333461|PMID:33490280|PMID:33625594|PMID:34008892|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8012359|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9831351|PMID:9873004 8711305 Ryr1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia susceptibility | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11113224|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11525881|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12161072|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434|PMID:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12883402|PMID:12937085|PMID:1329581|PMID:1354642|PMID:14500992|PMID:14641996|PMID:14670767|PMID:14732627|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732080|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17122579|PMID:17204937|PMID:17226826|PMID:17293538|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:18063506|PMID:18193641|PMID:18212565|PMID:18253926|PMID:18306019|PMID:18414213|PMID:18502356|PMID:18564|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19645060|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20461000|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21282829|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22526018|PMID:22550088|PMID:22705209|PMID:22734812|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24013571|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24706162|PMID:24950660|PMID:24951453|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25611019|PMID:25614869|PMID:25628744|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25882082|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26633545|PMID:26684984|PMID:26951757|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27382027|PMID:27431030|PMID:27555149|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28003660|PMID:28063098|PMID:28166811|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28325813|PMID:28326467|PMID:28403410|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28584051|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29556213|PMID:29576327|PMID:29608462|PMID:29635721|PMID:30115273|PMID:30122538|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100 8711305 Ryr1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia susceptibility | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:31016048|PMID:31055738|PMID:31135626|PMID:31206373|PMID:31321302|PMID:31447099|PMID:31559918|PMID:31589614|PMID:31680349|PMID:31742715|PMID:31903994|PMID:32054689|PMID:32236737|PMID:32528171|PMID:32665702|PMID:33146414|PMID:33333461|PMID:33458582|PMID:33490280|PMID:33625594|PMID:34008892|PMID:35535697|PMID:4149045|PMID:6917943|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9831351|PMID:9873004 8711305 Ryr1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Hyperpyrexia, malignant | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11113224|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11525881|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12161072|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434|PMID:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12883402|PMID:12937085|PMID:1329581|PMID:1354642|PMID:14500992|PMID:14641996|PMID:14670767|PMID:14732627|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732080|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17122579|PMID:17204937|PMID:17226826|PMID:17293538|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:18063506|PMID:18193641|PMID:18212565|PMID:18253926|PMID:18306019|PMID:18414213|PMID:18502356|PMID:18564|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19645060|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20461000|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21282829|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22526018|PMID:22550088|PMID:22705209|PMID:22734812|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24013571|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24706162|PMID:24950660|PMID:24951453|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25611019|PMID:25614869|PMID:25628744|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25882082|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26633545|PMID:26684984|PMID:26951757|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27382027|PMID:27431030|PMID:27555149|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28003660|PMID:28063098|PMID:28166811|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28325813|PMID:28326467|PMID:28403410|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28584051|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29556213|PMID:29576327|PMID:29608462|PMID:29635721|PMID:30115273|PMID:30122538|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384 8711305 Ryr1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Hyperpyrexia, malignant | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 PMID:30499100|PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:31016048|PMID:31055738|PMID:31135626|PMID:31206373|PMID:31321302|PMID:31447099|PMID:31559918|PMID:31589614|PMID:31680349|PMID:31742715|PMID:31903994|PMID:32054689|PMID:32236737|PMID:32528171|PMID:32665702|PMID:33146414|PMID:33333461|PMID:33458582|PMID:33490280|PMID:33625594|PMID:33767344|PMID:34008892|PMID:35535697|PMID:4149045|PMID:6917943|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9831351|PMID:9873004 8711305 Ryr1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Exercise-induced malignant hyperthermia | ClinVar Annotator: match by term: Hyperpyrexia, malignant | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5 PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11113224|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11525881|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12161072|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434|PMID:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12883402|PMID:12937085|PMID:1329581|PMID:1354642|PMID:14500992|PMID:14641996|PMID:14670767|PMID:14732627|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732080|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17122579|PMID:17204937|PMID:17226826|PMID:17293538|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:18063506|PMID:18171678|PMID:18193641|PMID:18212565|PMID:18253|PMID:18253926|PMID:18306019|PMID:18414213|PMID:18502356|PMID:18564|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19645060|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20461000|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21282829|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22526018|PMID:22550088|PMID:22705209|PMID:22734812|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24013571|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24706162|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25517095|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25611019|PMID:25614869|PMID:25628744|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25882082|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26633545|PMID:26684984|PMID:26951757|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27382027|PMID:27431030|PMID:27555149|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28003660|PMID:28063098|PMID:28166811|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28325813|PMID:28326467|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28584051|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29556213|PMID:29576327|PMID:29608462|PMID:29635721|PMID:29792937|PMID:30115273 8711305 Ryr1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Exercise-induced malignant hyperthermia | ClinVar Annotator: match by term: Hyperpyrexia, malignant | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5 PMID:30122538|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31135626|PMID:31206373|PMID:31301762|PMID:31321302|PMID:31447099|PMID:31559918|PMID:31589614|PMID:31680349|PMID:31742715|PMID:31903994|PMID:32054689|PMID:32236737|PMID:32528171|PMID:32665702|PMID:33146414|PMID:33258288|PMID:33259453|PMID:33333461|PMID:33458582|PMID:33490280|PMID:33625594|PMID:33646171|PMID:33767344|PMID:34008892|PMID:35285867|PMID:35428369|PMID:35535697|PMID:4149045|PMID:6917943|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9831351|PMID:9873004 8711305 Ryr1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Hyperpyrexia, malignant | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11113224|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11525881|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12161072|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434|PMID:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12883402|PMID:12937085|PMID:1329581|PMID:1354642|PMID:14500992|PMID:14641996|PMID:14670767|PMID:14708096|PMID:14732627|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16244682|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732080|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17122579|PMID:17204937|PMID:17226826|PMID:17293538|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18063506|PMID:18171678|PMID:18193641|PMID:18212565|PMID:18253|PMID:18253926|PMID:18306019|PMID:18414213|PMID:18502356|PMID:18564|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19541610|PMID:19645060|PMID:19648156|PMID:19658156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20439600|PMID:20461000|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21282829|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22526018|PMID:22550088|PMID:22705209|PMID:22734812|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24013571|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24706162|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25517095|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25611019|PMID:25614869|PMID:25628744|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25882082|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26631338|PMID:26633545|PMID:26684984|PMID:26951757|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28003660|PMID:28063098|PMID:28078069|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28325813|PMID:28326467|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28584051|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004 8711305 Ryr1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Hyperpyrexia, malignant | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29556213|PMID:29576327|PMID:29608462|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30115273|PMID:30122538|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31130284|PMID:31135626|PMID:31165076|PMID:31206373|PMID:31301762|PMID:31304636|PMID:31321302|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31589614|PMID:31680349|PMID:31742715|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32098966|PMID:32165824|PMID:32236737|PMID:32337335|PMID:32528171|PMID:32665702|PMID:33146414|PMID:33258288|PMID:33259453|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33625594|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:35285867|PMID:35428369|PMID:35535697|PMID:4149045|PMID:6917943|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9831351|PMID:9873004 8711305 Ryr1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5 PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11113224|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11525881|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12161072|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434|PMID:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12883402|PMID:12937085|PMID:1329581|PMID:1354642|PMID:14500992|PMID:14641996|PMID:14670767|PMID:14708096|PMID:14732627|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16244682|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732080|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17122579|PMID:17204937|PMID:17226826|PMID:17293538|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18063506|PMID:18171678|PMID:18193641|PMID:18212565|PMID:18253|PMID:18253926|PMID:18306019|PMID:18414213|PMID:18502356|PMID:18564|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19541610|PMID:19645060|PMID:19648156|PMID:19658156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20439600|PMID:20461000|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21282829|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22526018|PMID:22550088|PMID:22705209|PMID:22734812|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24013571|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24706162|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25517095|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25611019|PMID:25614869|PMID:25628744|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25882082|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25987458|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26631338|PMID:26633545|PMID:26684984|PMID:26951757|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27447704|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28003660|PMID:28063098|PMID:28078069|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28325813|PMID:28326467|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28584051|PMID:28687594|PMID:28818389 8711305 Ryr1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5 PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29556213|PMID:29576327|PMID:29608462|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30115273|PMID:30122538|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31130284|PMID:31135626|PMID:31165076|PMID:31206373|PMID:31301762|PMID:31304636|PMID:31321302|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31589614|PMID:31680349|PMID:31742715|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32098966|PMID:32236737|PMID:32337335|PMID:32403337|PMID:32528171|PMID:32665702|PMID:33146414|PMID:33258288|PMID:33259453|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33625594|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34463354|PMID:34535181|PMID:34809703|PMID:35285867|PMID:35428369|PMID:35535697|PMID:4149045|PMID:6917943|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9831351|PMID:9873004 8711305 Ryr1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Exercise-induced malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 PMID:28584051|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29556213|PMID:29576327|PMID:29608462|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30115273|PMID:30122538|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31130284|PMID:31135626|PMID:31165076|PMID:31206373|PMID:31301762|PMID:31304636|PMID:31321302|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31589614|PMID:31680349|PMID:31742715|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32098966|PMID:32236737|PMID:32337335|PMID:32403337|PMID:32528171|PMID:32665702|PMID:33146414|PMID:33258288|PMID:33259453|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33625594|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34463354|PMID:34535181|PMID:34809703|PMID:35285867|PMID:35428369|PMID:35535697|PMID:35599849|PMID:36208971|PMID:4149045|PMID:6917943|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9831351|PMID:9873004 8711305 Ryr1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11113224|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11525881|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12161072|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434|PMID:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12883402|PMID:12937085|PMID:1329581|PMID:1354642|PMID:14500992|PMID:14641996|PMID:14670767|PMID:14708096|PMID:14732627|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16244682|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732080|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17122579|PMID:17204937|PMID:17226826|PMID:17293538|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18063506|PMID:18171678|PMID:18193641|PMID:18212565|PMID:18253|PMID:18253926|PMID:18306019|PMID:18414213|PMID:18502356|PMID:18564|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19541610|PMID:19645060|PMID:19648156|PMID:19658156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20439600|PMID:20461000|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21282829|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22418739|PMID:22473935|PMID:22526018|PMID:22550088|PMID:22705209|PMID:22734812|PMID:22851008|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24013571|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24706162|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25517095|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25611019|PMID:25614869|PMID:25628744|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25882082|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25987458|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26631338|PMID:26633545|PMID:26684984|PMID:26951757|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27447704|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28003660|PMID:28007021|PMID:28063098|PMID:28078069|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28325813|PMID:28326467|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28496993|PMID:28527222 8711305 Ryr1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 PMID:28584051|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29556213|PMID:29576327|PMID:29608462|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30115273|PMID:30122538|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31130284|PMID:31135626|PMID:31165076|PMID:31206373|PMID:31301762|PMID:31304636|PMID:31321302|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31589614|PMID:31680349|PMID:31742715|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32098966|PMID:32165824|PMID:32236737|PMID:32337335|PMID:32403337|PMID:32528171|PMID:32665702|PMID:33146414|PMID:33258288|PMID:33259453|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33625594|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34463354|PMID:34535181|PMID:34809703|PMID:35285867|PMID:35428369|PMID:35535697|PMID:35599849|PMID:36208971|PMID:4149045|PMID:6917943|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9831351|PMID:9873004 8711305 Ryr1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Exercise-induced malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5 PMID:28527222|PMID:28584051|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29556213|PMID:29576327|PMID:29608462|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30115273|PMID:30122538|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31130284|PMID:31135626|PMID:31165076|PMID:31206373|PMID:31301762|PMID:31304636|PMID:31321302|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31589614|PMID:31680349|PMID:31742715|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32098966|PMID:32236737|PMID:32337335|PMID:32403337|PMID:32528171|PMID:32665702|PMID:33146414|PMID:33258288|PMID:33259453|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33625594|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34463354|PMID:34535181|PMID:34809703|PMID:35285867|PMID:35428369|PMID:35535697|PMID:35599849|PMID:36208971|PMID:36628841|PMID:4149045|PMID:6917943|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9831351|PMID:9873004 8711305 Ryr1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperpyrexia susceptibility type 5 | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5 PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11113224|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11525881|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11673462|PMID:11709545|PMID:11741831|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12161072|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434|PMID:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12883402|PMID:12937085|PMID:1329581|PMID:1354642|PMID:14500992|PMID:14641996|PMID:14670767|PMID:14708096|PMID:14732627|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16244682|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732080|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17122579|PMID:17204937|PMID:17226826|PMID:17293538|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18063506|PMID:18171678|PMID:18193641|PMID:18212565|PMID:18253|PMID:18253926|PMID:18306019|PMID:18414213|PMID:18502356|PMID:18564|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19541610|PMID:19645060|PMID:19648156|PMID:19658156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20439600|PMID:20461000|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21282829|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22418739|PMID:22473935|PMID:22526018|PMID:22550088|PMID:22705209|PMID:22734812|PMID:22851008|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24013571|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24706162|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25517095|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25611019|PMID:25614869|PMID:25628744|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25882082|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25987458|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26631338|PMID:26633545|PMID:26684984|PMID:26951757|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27447704|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28003660|PMID:28007021|PMID:28063098|PMID:28078069|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28325813|PMID:28326467|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28496993 8711305 Ryr1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperpyrexia susceptibility type 5 | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5 PMID:28527222|PMID:28584051|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29556213|PMID:29576327|PMID:29608462|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30115273|PMID:30122538|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:30872186|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31130284|PMID:31135626|PMID:31165076|PMID:31206373|PMID:31301762|PMID:31304636|PMID:31321302|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31589614|PMID:31680349|PMID:31742715|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32098966|PMID:32236737|PMID:32337335|PMID:32403337|PMID:32528171|PMID:32665702|PMID:33146414|PMID:33258288|PMID:33259453|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33625594|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34428338|PMID:34463354|PMID:34535181|PMID:34809703|PMID:35285867|PMID:35428369|PMID:35535697|PMID:35599849|PMID:35627144|PMID:36208971|PMID:36628841|PMID:4149045|PMID:6917943|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9831351|PMID:9873004 8711305 Ryr1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5 PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11113224|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11525881|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11673462|PMID:11709545|PMID:11741831|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12161072|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434|PMID:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12883402|PMID:12937085|PMID:1329581|PMID:1354642|PMID:14500992|PMID:14641996|PMID:14670767|PMID:14708096|PMID:14732627|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16244682|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732080|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17122579|PMID:17204937|PMID:17226826|PMID:17293538|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18063506|PMID:1810122|PMID:18171678|PMID:18193641|PMID:18212565|PMID:18253|PMID:18253926|PMID:18306019|PMID:18414213|PMID:18502356|PMID:18564|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19541610|PMID:19645060|PMID:19648156|PMID:19658156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20439600|PMID:20461000|PMID:2047609|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21282829|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22418739|PMID:22473935|PMID:22526018|PMID:22550088|PMID:22705209|PMID:22734812|PMID:22851008|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24013571|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24706162|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25517095|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25611019|PMID:25614869|PMID:25628744|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25882082|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25987458|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26631338|PMID:26633545|PMID:26684984|PMID:26951757|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27447704|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28003660|PMID:28007021|PMID:28063098|PMID:28078069|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28325813|PMID:28326467|PMID:28357410|PMID:28403410 8711305 Ryr1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5 PMID:28492532|PMID:28496993|PMID:28527222|PMID:28584051|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29556213|PMID:29576327|PMID:29608462|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30115273|PMID:30122538|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:30872186|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31130284|PMID:31135626|PMID:31165076|PMID:31206373|PMID:31301762|PMID:31304636|PMID:31321302|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31589614|PMID:31618753|PMID:31680349|PMID:31742715|PMID:31841587|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32098966|PMID:32236737|PMID:32337335|PMID:32403337|PMID:32528171|PMID:32665702|PMID:32861507|PMID:32919876|PMID:33146414|PMID:33258288|PMID:33259453|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33625594|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34127251|PMID:34316023|PMID:34411415|PMID:34428338|PMID:34440373|PMID:34463354|PMID:34535181|PMID:34625927|PMID:34645488|PMID:34809703|PMID:34904211|PMID:35081925|PMID:35285867|PMID:35428369|PMID:35535697|PMID:35599849|PMID:35627144|PMID:36208971|PMID:36283893|PMID:36628841|PMID:37273706|PMID:37510298|PMID:4149045|PMID:6917943|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9831351|PMID:9873004 8711305 Ryr1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperpyrexia susceptibility type 5 | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5 PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11113224|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11525881|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11673462|PMID:11709545|PMID:11741831|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12161072|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434|PMID:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12883402|PMID:12937085|PMID:1329581|PMID:1354642|PMID:14500992|PMID:14641996|PMID:14670767|PMID:14708096|PMID:14732627|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16244682|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732080|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17122579|PMID:17204937|PMID:17226826|PMID:17293538|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18063506|PMID:1810122|PMID:18171678|PMID:18193641|PMID:18212565|PMID:18253|PMID:18253926|PMID:18306019|PMID:18414213|PMID:18502356|PMID:18564|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19541610|PMID:19645060|PMID:19648156|PMID:19658156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20439600|PMID:20461000|PMID:2047609|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21282829|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22418739|PMID:22473935|PMID:22526018|PMID:22550088|PMID:22705209|PMID:22734812|PMID:22851008|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24013571|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24706162|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25517095|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25611019|PMID:25614869|PMID:25628744|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25741909|PMID:25747005|PMID:25749300|PMID:25882082|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25987458|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26631338|PMID:26633545|PMID:26684984|PMID:26951757|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27447704|PMID:27558158|PMID:27586648|PMID:27616680|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28003660|PMID:28007021|PMID:28063098|PMID:28078069|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28325813|PMID:28326467 8711305 Ryr1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperpyrexia susceptibility type 5 | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5 PMID:28357410|PMID:28403410|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28584051|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29556213|PMID:29576327|PMID:29608462|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30115273|PMID:30122538|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:30872186|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31130284|PMID:31135626|PMID:31165076|PMID:31206373|PMID:31301762|PMID:31304636|PMID:31321302|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31589614|PMID:31618753|PMID:31680349|PMID:31742715|PMID:31841587|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32098966|PMID:32236737|PMID:32337335|PMID:32403337|PMID:32528171|PMID:32665702|PMID:32861507|PMID:32919876|PMID:33146414|PMID:33258288|PMID:33259453|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33625594|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34127251|PMID:34316023|PMID:34411415|PMID:34428338|PMID:34440373|PMID:34463354|PMID:34535181|PMID:34625927|PMID:34645488|PMID:34809703|PMID:34904211|PMID:35081925|PMID:35285867|PMID:35428369|PMID:35535697|PMID:35599849|PMID:35627144|PMID:36208971|PMID:36283893|PMID:36628841|PMID:37273706|PMID:37510298|PMID:4149045|PMID:6917943|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9831351|PMID:9873004 8711305 Ryr1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperpyrexia susceptibility type 5 | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar Annotator: match by term: Malignant hyperthermia susceptibility | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5 PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11113224|PMID:11135728|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11525881|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11673462|PMID:11709545|PMID:11741831|PMID:11873057|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12161072|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434|PMID:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12883402|PMID:12937085|PMID:1329581|PMID:1354642|PMID:14500992|PMID:14641996|PMID:14670767|PMID:14708096|PMID:14732627|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15299003|PMID:15347586|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16244682|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732080|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081125|PMID:17081152|PMID:17122579|PMID:17204054|PMID:17204937|PMID:17226826|PMID:17293538|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17667681|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18063506|PMID:1810122|PMID:18171678|PMID:18193641|PMID:18212565|PMID:18253|PMID:18253926|PMID:18306019|PMID:18414213|PMID:18502356|PMID:18505122|PMID:18564|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19454545|PMID:19513315|PMID:19541610|PMID:19645060|PMID:19648156|PMID:19658156|PMID:19685112|PMID:19797833|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20301565|PMID:20439600|PMID:20461000|PMID:2047609|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21282829|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21804810|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22407809|PMID:22415532|PMID:22418739|PMID:22473935|PMID:22526018|PMID:22550088|PMID:22696611|PMID:22705209|PMID:22734812|PMID:22851008|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23422674|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24013571|PMID:24033266|PMID:24053352|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24706162|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25517095|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25611019|PMID:25614869|PMID:25628744|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25882082|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25987458|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26275793|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26631338|PMID:26633545|PMID:26684984|PMID:26841830|PMID:26951757|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27066551|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27234031|PMID:27353517|PMID:27363342|PMID:27382027 8711305 Ryr1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperpyrexia susceptibility type 5 | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5 PMID:27431030|PMID:27447704|PMID:27452334|PMID:27545679|PMID:27558158|PMID:27586648|PMID:27616680|PMID:27646467|PMID:27663056|PMID:27708273|PMID:27831900|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28003660|PMID:28007021|PMID:28063098|PMID:28078069|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28290972|PMID:28325813|PMID:28326467|PMID:28357410|PMID:28403410|PMID:2842332|PMID:28424332|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28584051|PMID:28687594|PMID:28750945|PMID:28818389|PMID:29028638|PMID:29096039|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29261186|PMID:29298851|PMID:29344738|PMID:29355282|PMID:29382405|PMID:29417091|PMID:29556213|PMID:29576327|PMID:29608462|PMID:29629541|PMID:29635721|PMID:29667327|PMID:29669168|PMID:29701772|PMID:29792937|PMID:30115273|PMID:30122538|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30652412|PMID:30724636|PMID:30755392|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:30872186|PMID:30916033|PMID:31016048|PMID:31055738|PMID:31068157|PMID:31107960|PMID:31127727|PMID:31130284|PMID:31135626|PMID:31165076|PMID:31206373|PMID:31301762|PMID:31304636|PMID:31321302|PMID:31395954|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31589614|PMID:31618753|PMID:31680123|PMID:31680349|PMID:31742715|PMID:31841587|PMID:31851124|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32098966|PMID:32236737|PMID:32304219|PMID:32337335|PMID:32371413|PMID:32403337|PMID:32461654|PMID:32528171|PMID:32600061|PMID:32665702|PMID:32861507|PMID:32899693|PMID:32919876|PMID:32978841|PMID:33037202|PMID:33060286|PMID:33146414|PMID:33176865|PMID:33190635|PMID:33258288|PMID:33259453|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33625594|PMID:33646171|PMID:33726816|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34127251|PMID:34316023|PMID:34411415|PMID:34426522|PMID:34428338|PMID:34440373|PMID:34463354|PMID:34535181|PMID:34625927|PMID:34645488|PMID:34809703|PMID:34904211|PMID:35081925|PMID:35178478|PMID:35285867|PMID:35361824|PMID:35387801|PMID:35428369|PMID:35535697|PMID:35548885|PMID:35549722|PMID:35599849|PMID:35627144|PMID:35666680|PMID:35693006|PMID:35846108|PMID:35849058|PMID:36208971|PMID:36283893|PMID:36628841|PMID:37273706|PMID:37510298|PMID:4149045|PMID:6917943|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8010475|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9831351|PMID:9873004 8711305 Ryr1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperpyrexia susceptibility type 5 | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar Annotator: match by term: Malignant hyperthermia susceptibility | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5 PMID:27431030|PMID:27447704|PMID:27452334|PMID:27545679|PMID:27558158|PMID:27586648|PMID:27616680|PMID:27646467|PMID:27663056|PMID:27708273|PMID:27831900|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28003660|PMID:28007021|PMID:28063098|PMID:28078069|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28290972|PMID:28325813|PMID:28326467|PMID:28357410|PMID:28403410|PMID:2842332|PMID:28424332|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28584051|PMID:28687594|PMID:28750945|PMID:28818389|PMID:29028638|PMID:29096039|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29261186|PMID:29298851|PMID:29344738|PMID:29355282|PMID:29382405|PMID:29417091|PMID:29556213|PMID:29576327|PMID:29608462|PMID:29629541|PMID:29635721|PMID:29667327|PMID:29669168|PMID:29701772|PMID:29792937|PMID:30115273|PMID:30122538|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30652412|PMID:30724636|PMID:30755392|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:30872186|PMID:30916033|PMID:31016048|PMID:31055738|PMID:31068157|PMID:31107960|PMID:31127727|PMID:31130284|PMID:31135626|PMID:31165076|PMID:31206373|PMID:31301762|PMID:31304636|PMID:31321302|PMID:31395954|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31589614|PMID:31618753|PMID:31680123|PMID:31680349|PMID:31742715|PMID:31841587|PMID:31851124|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32098966|PMID:32236737|PMID:32304219|PMID:32337335|PMID:32371413|PMID:32403337|PMID:32461654|PMID:32528171|PMID:32600061|PMID:32665702|PMID:32861507|PMID:32899693|PMID:32919876|PMID:32978841|PMID:33037202|PMID:33060286|PMID:33146414|PMID:33176865|PMID:33190635|PMID:33258288|PMID:33259453|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33625594|PMID:33646171|PMID:33726816|PMID:33758288|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34127251|PMID:34316023|PMID:34411415|PMID:34426522|PMID:34428338|PMID:34440373|PMID:34463354|PMID:34535181|PMID:34625927|PMID:34645488|PMID:34809703|PMID:34904211|PMID:35081925|PMID:35178478|PMID:35285867|PMID:35361824|PMID:35387801|PMID:35428369|PMID:35535697|PMID:35548885|PMID:35549722|PMID:35599849|PMID:35627144|PMID:35666680|PMID:35693006|PMID:35846108|PMID:35849058|PMID:36208971|PMID:36283893|PMID:36628841|PMID:37273706|PMID:37510298|PMID:4149045|PMID:6917943|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8010475|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9831351|PMID:9873004 8711305 Ryr1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5 PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11113224|PMID:11135728|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11525881|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11673462|PMID:11709545|PMID:11741831|PMID:11873057|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12161072|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434|PMID:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12883402|PMID:12937085|PMID:1354642|PMID:14500992|PMID:14641996|PMID:14670767|PMID:14708096|PMID:14732627|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15299003|PMID:15347586|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16244682|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732080|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081125|PMID:17081152|PMID:17122579|PMID:17204054|PMID:17204937|PMID:17226826|PMID:17293538|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17667681|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18063506|PMID:1810122|PMID:18171678|PMID:18193641|PMID:18212565|PMID:18253|PMID:18253926|PMID:18306019|PMID:18414213|PMID:18502356|PMID:18505122|PMID:18564|PMID:18564801|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19442771|PMID:19454545|PMID:19513315|PMID:19541610|PMID:19645060|PMID:19648156|PMID:19658156|PMID:19685112|PMID:19797833|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20301565|PMID:20439600|PMID:20461000|PMID:2047609|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21282829|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21804810|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22407809|PMID:22415532|PMID:22418739|PMID:22473935|PMID:22526018|PMID:22550088|PMID:22696611|PMID:22705209|PMID:22734812|PMID:22851008|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23422674|PMID:23456818|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24013571|PMID:24033266|PMID:24053352|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24706162|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25517095|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25611019|PMID:25614869|PMID:25628744|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25882082|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25987458|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26275793|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26631338|PMID:26633545|PMID:26684984|PMID:26833332|PMID:26841830|PMID:26951757|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27066551|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27234031|PMID:27353517|PMID:27363342 8711305 Ryr1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5 PMID:27382027|PMID:27431030|PMID:27447704|PMID:27452334|PMID:27545679|PMID:27558158|PMID:27586648|PMID:27616680|PMID:27646467|PMID:27663056|PMID:27708273|PMID:27831900|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28003660|PMID:28007021|PMID:28063098|PMID:28078069|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28290972|PMID:28325813|PMID:28326467|PMID:28357410|PMID:28403410|PMID:2842332|PMID:28424332|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28584051|PMID:28687594|PMID:28750945|PMID:28818389|PMID:29028638|PMID:29096039|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29261186|PMID:29298851|PMID:29344738|PMID:29355282|PMID:29382405|PMID:29417091|PMID:29556213|PMID:29576327|PMID:29608462|PMID:29629541|PMID:29635721|PMID:29667327|PMID:29669168|PMID:29701772|PMID:29792937|PMID:30115273|PMID:30122538|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30652412|PMID:30724636|PMID:30755392|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:30872186|PMID:30916033|PMID:31016048|PMID:31055738|PMID:31068157|PMID:31107960|PMID:31127727|PMID:31130284|PMID:31135626|PMID:31165076|PMID:31206373|PMID:31301762|PMID:31304636|PMID:31321302|PMID:31395954|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31589614|PMID:31618753|PMID:31680123|PMID:31680349|PMID:31742715|PMID:31841587|PMID:31851124|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32098966|PMID:32236737|PMID:32304219|PMID:32337335|PMID:32371413|PMID:32403337|PMID:32461654|PMID:32528171|PMID:32600061|PMID:32665702|PMID:32861507|PMID:32899693|PMID:32919876|PMID:32978841|PMID:33037202|PMID:33060286|PMID:33146414|PMID:33176865|PMID:33190635|PMID:33258288|PMID:33259453|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33625594|PMID:33646171|PMID:33726816|PMID:33758288|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34127251|PMID:34316023|PMID:34411415|PMID:34426522|PMID:34428338|PMID:34440373|PMID:34463354|PMID:34535181|PMID:34595679|PMID:34625927|PMID:34645488|PMID:34809703|PMID:34904211|PMID:35081925|PMID:35178478|PMID:35285867|PMID:35361824|PMID:35387801|PMID:35428369|PMID:35535697|PMID:35548885|PMID:35549722|PMID:35599849|PMID:35627144|PMID:35666680|PMID:35693006|PMID:35697689|PMID:35846108|PMID:35849058|PMID:36208971|PMID:3626847|PMID:36283893|PMID:36474027|PMID:36628841|PMID:37273706|PMID:37510298|PMID:37937776|PMID:39033378|PMID:4149045|PMID:6917943|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8010475|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9543323|PMID:9831351|PMID:9873004 8711305 Ryr1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar Annotator: match by term: Malignant hyperthermia susceptibility | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5 PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:1069529|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11113224|PMID:11135728|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11525881|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11673462|PMID:11709545|PMID:11741831|PMID:11873057|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12161072|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434|PMID:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12883402|PMID:12937085|PMID:1354642|PMID:14500992|PMID:14641996|PMID:14670767|PMID:14708096|PMID:14732627|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15299003|PMID:15347586|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16244682|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732080|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081125|PMID:17081152|PMID:17122579|PMID:17204054|PMID:17204937|PMID:17226826|PMID:17293538|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17667681|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18063506|PMID:1810122|PMID:18171678|PMID:18193641|PMID:18212565|PMID:18253|PMID:18253926|PMID:18306019|PMID:1836259|PMID:18414213|PMID:18502356|PMID:18505122|PMID:18564|PMID:18564801|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19454545|PMID:19513315|PMID:19541610|PMID:19645060|PMID:19648156|PMID:19658156|PMID:19685112|PMID:19797833|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20301565|PMID:20439600|PMID:20461000|PMID:2047609|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21282829|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21804810|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22407809|PMID:22415532|PMID:22418739|PMID:22473935|PMID:22526018|PMID:22550088|PMID:22696611|PMID:22705209|PMID:22734812|PMID:22851008|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23422674|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24013571|PMID:24033266|PMID:24053352|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24706162|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25210889|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25326637|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25517095|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25611019|PMID:25614869|PMID:25628744|PMID:25635128|PMID:25637381|PMID:25658027|PMID:2567381|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25882082|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25987458|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26275793|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26631338|PMID:26633545|PMID:26684984|PMID:26841830|PMID:26951757|PMID:26972305|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27066551|PMID:27147545|PMID:27153395|PMID:27159402 8711305 Ryr1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar Annotator: match by term: Malignant hyperthermia susceptibility | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5 PMID:27234031|PMID:27353517|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27447704|PMID:27452334|PMID:27545679|PMID:27558158|PMID:27586648|PMID:27616680|PMID:27646467|PMID:27663056|PMID:27708273|PMID:27831900|PMID:27854218|PMID:27855725|PMID:27857962|PMID:27858745|PMID:27918309|PMID:28003660|PMID:28007021|PMID:28063098|PMID:28078069|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28290972|PMID:28325813|PMID:28326467|PMID:28357410|PMID:28403410|PMID:2842332|PMID:28424332|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28584051|PMID:28687594|PMID:28750945|PMID:28818389|PMID:29028638|PMID:29096039|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29261186|PMID:29298851|PMID:29344738|PMID:29355282|PMID:29382405|PMID:29417091|PMID:29556213|PMID:29576327|PMID:29608462|PMID:29629541|PMID:29635721|PMID:29667327|PMID:29669168|PMID:29701772|PMID:29792937|PMID:29802573|PMID:30115273|PMID:30122538|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30652412|PMID:30724636|PMID:30755392|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:30872186|PMID:30916033|PMID:31016048|PMID:31055738|PMID:31068157|PMID:31107960|PMID:31127727|PMID:31130284|PMID:31135626|PMID:31165076|PMID:31206373|PMID:31301762|PMID:31304636|PMID:31321302|PMID:31395954|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31589614|PMID:31618753|PMID:31680123|PMID:31680349|PMID:31742715|PMID:31841587|PMID:31851124|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32098966|PMID:32236737|PMID:32304219|PMID:32337335|PMID:32371413|PMID:32403337|PMID:32461654|PMID:32528171|PMID:32573669|PMID:32600061|PMID:32665702|PMID:32861507|PMID:32899693|PMID:32919876|PMID:32978841|PMID:33037202|PMID:33060286|PMID:33146414|PMID:33176865|PMID:33190635|PMID:33258288|PMID:33259453|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33625594|PMID:33646171|PMID:33726816|PMID:33758288|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34127251|PMID:34316023|PMID:34411415|PMID:34426522|PMID:34428338|PMID:34440373|PMID:34463354|PMID:34528764|PMID:34535181|PMID:34595679|PMID:34625927|PMID:34645488|PMID:34809703|PMID:34849273|PMID:34904211|PMID:35081925|PMID:35178478|PMID:35285867|PMID:35361824|PMID:35387801|PMID:35428369|PMID:35535697|PMID:35548885|PMID:35549722|PMID:35587316|PMID:35599849|PMID:35627144|PMID:35666680|PMID:35693006|PMID:35697689|PMID:35718563|PMID:35846108|PMID:35849058|PMID:36100962|PMID:36131268|PMID:36208971|PMID:3626847|PMID:36280855|PMID:36283893|PMID:36474027|PMID:36628841|PMID:36757698|PMID:36939041|PMID:36983702|PMID:37273706|PMID:37510298|PMID:37541188|PMID:37712079|PMID:37787745|PMID:37937776|PMID:37996280|PMID:38582058|PMID:39033378|PMID:4149045|PMID:6917943|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8010475|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9543323|PMID:9831351|PMID:9873004 8711305 Ryr1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5 PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:1069529|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11113224|PMID:11135728|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11525881|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11673462|PMID:11709545|PMID:11741831|PMID:11873057|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12161072|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434|PMID:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12719381|PMID:12732639|PMID:12883402|PMID:12937085|PMID:1354642|PMID:14500992|PMID:14641996|PMID:14670767|PMID:14708096|PMID:14732627|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15299003|PMID:15347586|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16244682|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732080|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081125|PMID:17081152|PMID:17122579|PMID:17204054|PMID:17204937|PMID:17226826|PMID:17293538|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17667681|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18063506|PMID:1810122|PMID:18171678|PMID:18193641|PMID:18212565|PMID:18253|PMID:18253926|PMID:18306019|PMID:1836259|PMID:18414213|PMID:18502356|PMID:18505122|PMID:18564|PMID:18564801|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19454545|PMID:19513315|PMID:19541610|PMID:19645060|PMID:19648156|PMID:19658156|PMID:19685112|PMID:19797833|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20301565|PMID:20439600|PMID:20461000|PMID:2047609|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21282829|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21804810|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22407809|PMID:22415532|PMID:22418739|PMID:22473935|PMID:22526018|PMID:22550088|PMID:22696611|PMID:22705209|PMID:22734812|PMID:22851008|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23422674|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24013571|PMID:24033266|PMID:24053352|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24706162|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25210889|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25326637|PMID:25370123|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25517095|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25611019|PMID:25614869|PMID:25628744|PMID:25635128|PMID:25637381|PMID:25658027|PMID:2567381|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25882082|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25987458|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26275793|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26631338|PMID:26633545|PMID:26684984|PMID:26841830|PMID:26951757|PMID:26972305|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27066551|PMID:27147545 8711305 Ryr1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5 PMID:27153395|PMID:27159402|PMID:27234031|PMID:27353517|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27447704|PMID:27452334|PMID:27545679|PMID:27558158|PMID:27586648|PMID:27616680|PMID:27646467|PMID:27663056|PMID:27708273|PMID:27831900|PMID:27854218|PMID:27855725|PMID:27857962|PMID:27858745|PMID:27918309|PMID:28003660|PMID:28007021|PMID:28063098|PMID:28078069|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28290972|PMID:28325813|PMID:28326467|PMID:28357410|PMID:28403410|PMID:2842332|PMID:28424332|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28584051|PMID:28687594|PMID:28750945|PMID:28818389|PMID:29028638|PMID:29096039|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29261186|PMID:29298851|PMID:29344738|PMID:29355282|PMID:29382405|PMID:29417091|PMID:29556213|PMID:29576327|PMID:29608462|PMID:29629541|PMID:29635721|PMID:29667327|PMID:29669168|PMID:29701772|PMID:29792937|PMID:29802573|PMID:30115273|PMID:30122538|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30652412|PMID:30724636|PMID:30755392|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:30872186|PMID:30916033|PMID:31016048|PMID:31055738|PMID:31068157|PMID:31107960|PMID:31127727|PMID:31130284|PMID:31135626|PMID:31165076|PMID:31206373|PMID:31301762|PMID:31304636|PMID:31321302|PMID:31395954|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31589614|PMID:31618753|PMID:31680123|PMID:31680349|PMID:31742715|PMID:31841587|PMID:31851124|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32098966|PMID:32236737|PMID:32304219|PMID:32337335|PMID:32371413|PMID:32403337|PMID:32461654|PMID:32528171|PMID:32573669|PMID:32600061|PMID:32665702|PMID:32861507|PMID:32899693|PMID:32919876|PMID:32978841|PMID:33037202|PMID:33060286|PMID:33146414|PMID:33176865|PMID:33190635|PMID:33258288|PMID:33259453|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33625594|PMID:33646171|PMID:33726816|PMID:33758288|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34127251|PMID:34316023|PMID:34411415|PMID:34426522|PMID:34428338|PMID:34440373|PMID:34463354|PMID:34528764|PMID:34535181|PMID:34595679|PMID:34625927|PMID:34645488|PMID:34707284|PMID:34809703|PMID:34849273|PMID:34904211|PMID:34970863|PMID:35081925|PMID:35178478|PMID:35285867|PMID:35304488|PMID:35361824|PMID:35387801|PMID:35428369|PMID:35535697|PMID:35548885|PMID:35549722|PMID:35587316|PMID:35599849|PMID:35627144|PMID:35666680|PMID:35693006|PMID:35697689|PMID:35718563|PMID:35846108|PMID:35849058|PMID:36100962|PMID:36131268|PMID:36208971|PMID:3626847|PMID:36280855|PMID:36283893|PMID:36474027|PMID:36628841|PMID:36757698|PMID:36939041|PMID:36983702|PMID:37273706|PMID:37510298|PMID:37541188|PMID:37712079|PMID:37787745|PMID:37937776|PMID:37996280|PMID:38582058|PMID:39033378|PMID:4149045|PMID:6917943|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8010475|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9543323|PMID:9831351|PMID:9873004 8711305 Ryr1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperpyrexia susceptibility type 5 | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5 PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:1069529|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11113224|PMID:11135728|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11525881|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11673462|PMID:11709545|PMID:11741831|PMID:11873057|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12161072|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434|PMID:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12719381|PMID:12732639|PMID:12883402|PMID:12937085|PMID:1354642|PMID:14500992|PMID:14641996|PMID:14670767|PMID:14708096|PMID:14732627|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15299003|PMID:15347586|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16244682|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732080|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081125|PMID:17081152|PMID:17122579|PMID:17204054|PMID:17204937|PMID:17226826|PMID:17293538|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17667681|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18063506|PMID:1810122|PMID:18171678|PMID:18193641|PMID:18212565|PMID:18253|PMID:18253926|PMID:18306019|PMID:1836259|PMID:18414213|PMID:18502356|PMID:18505122|PMID:18564|PMID:18564801|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19454545|PMID:19513315|PMID:19541610|PMID:19645060|PMID:19648156|PMID:19658156|PMID:19685112|PMID:19797833|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20301565|PMID:20439600|PMID:20461000|PMID:2047609|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21282829|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21804810|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22407809|PMID:22415532|PMID:22418739|PMID:22473935|PMID:22526018|PMID:22550088|PMID:22696611|PMID:22705209|PMID:22734812|PMID:22851008|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23422674|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24013571|PMID:24033266|PMID:24053352|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24706162|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25210889|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25326637|PMID:25370123|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25517095|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25611019|PMID:25614869|PMID:25628744|PMID:25635128|PMID:25637381|PMID:25658027|PMID:2567381|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25882082|PMID:25944380|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25987458|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26275793|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26631338|PMID:26633545|PMID:26684984|PMID:26841830|PMID:26951757|PMID:26972305|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27066551 8711305 Ryr1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperpyrexia susceptibility type 5 | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5 PMID:27147545|PMID:27153395|PMID:27159402|PMID:27234031|PMID:27353517|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27447704|PMID:27452334|PMID:27545679|PMID:27558158|PMID:27586648|PMID:27616680|PMID:27646467|PMID:27663056|PMID:27708273|PMID:27831900|PMID:27854218|PMID:27855725|PMID:27857962|PMID:27858745|PMID:27918309|PMID:28003660|PMID:28007021|PMID:28063098|PMID:28078069|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28290972|PMID:28325813|PMID:28326467|PMID:28357410|PMID:28403410|PMID:2842332|PMID:28424332|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28584051|PMID:28687594|PMID:28750945|PMID:28818389|PMID:29028638|PMID:29096039|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29261186|PMID:29298851|PMID:29344738|PMID:29355282|PMID:29382405|PMID:29417091|PMID:29556213|PMID:29576327|PMID:29608462|PMID:29629541|PMID:29635721|PMID:29667327|PMID:29669168|PMID:29701772|PMID:29792937|PMID:29802573|PMID:30115273|PMID:30122538|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30652412|PMID:30724636|PMID:30755392|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:30872186|PMID:30916033|PMID:31016048|PMID:31055738|PMID:31068157|PMID:31107960|PMID:31127727|PMID:31130284|PMID:31135626|PMID:31165076|PMID:31206373|PMID:31301762|PMID:31304636|PMID:31321302|PMID:31395954|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31589614|PMID:31618753|PMID:31680123|PMID:31680349|PMID:31742715|PMID:31841587|PMID:31851124|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32098966|PMID:32236737|PMID:32304219|PMID:32337335|PMID:32371413|PMID:32381727|PMID:32403337|PMID:32461654|PMID:32528171|PMID:32573669|PMID:32600061|PMID:32665702|PMID:32861507|PMID:32899693|PMID:32919876|PMID:32978841|PMID:33037202|PMID:33060286|PMID:33124102|PMID:33146414|PMID:33176865|PMID:33190635|PMID:33258288|PMID:33259453|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33625594|PMID:33646171|PMID:33726816|PMID:33758288|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34127251|PMID:34316023|PMID:34411415|PMID:34426522|PMID:34428338|PMID:34440373|PMID:34463354|PMID:34528764|PMID:34535181|PMID:34595679|PMID:34625927|PMID:34645488|PMID:34707284|PMID:34809703|PMID:34849273|PMID:34904211|PMID:34970863|PMID:35081925|PMID:35178478|PMID:35285867|PMID:35304488|PMID:35361824|PMID:35387801|PMID:35428369|PMID:35535697|PMID:35548885|PMID:35549722|PMID:35587316|PMID:35599849|PMID:35627144|PMID:35666680|PMID:35693006|PMID:35697689|PMID:35718563|PMID:35846108|PMID:35849058|PMID:36100962|PMID:36131268|PMID:36208971|PMID:3626847|PMID:36280855|PMID:36283893|PMID:36474027|PMID:36628841|PMID:36697461|PMID:36757698|PMID:36833224|PMID:36939041|PMID:36983702|PMID:37273706|PMID:37432431|PMID:37510298|PMID:37541188|PMID:37712079|PMID:37787745|PMID:37838930|PMID:37937776|PMID:37996280|PMID:38582058|PMID:39033378|PMID:39825153|PMID:4149045|PMID:6917943|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8010475|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9543323|PMID:9831351|PMID:9873004 8711305 Ryr1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia susceptibility ISO RGD:1316413 D RGD:7240710 20250312 OMIM 8711305 Ryr1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia treatment ISO RGD:1316414 D RGD:9068941 20230520 RGD PMID:34257294|PMID:34980804|REF_RGD_ID:329812000|REF_RGD_ID:329812001 8711305 Ryr1 ryanodine receptor 1 gene DOID:8927 learning disability ISO RGD:1316413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Specific learning disability PMID:25741868|PMID:28492532 8711305 Ryr1 ryanodine receptor 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1586637 D RGD:9068941 20230622 RGD protein:hyperoxidation,hypernitrosylation:gastrocnemius muscle PMID:27998200|REF_RGD_ID:329853757 8711305 Ryr1 ryanodine receptor 1 gene DOID:9000884 Rhabdomyolysis ISO RGD:1316413 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Rhabdomyolysis PMID:25741868|PMID:28779239|PMID:30755392 8711305 Ryr1 ryanodine receptor 1 gene DOID:9002119 Malignant Hypothermia ISO RGD:1316413 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Malignant hypothermia PMID:14732627|PMID:16163667|PMID:16732084|PMID:16917943|PMID:18253926|PMID:18414213|PMID:19191329|PMID:19191333|PMID:20839240|PMID:20981092|PMID:21455645|PMID:21503806|PMID:21674524|PMID:22913516|PMID:22995991|PMID:23183335|PMID:23204524|PMID:23329375|PMID:23558838|PMID:23628358|PMID:24195946|PMID:25735680|PMID:25741868|PMID:25957634|PMID:26467025|PMID:26994242|PMID:27153395|PMID:28003660|PMID:28492532|PMID:30122538|PMID:30611313|PMID:30724636|PMID:32236737|PMID:33333461|PMID:33458582 8711305 Ryr1 ryanodine receptor 1 gene DOID:9003163 Heart Block ISO RGD:1316413 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Heart block PMID:16835904|PMID:24033266|PMID:25741868 8711305 Ryr1 ryanodine receptor 1 gene DOID:9003760 Myalgia ISO RGD:1316413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myalgia PMID:24195946|PMID:25741868|PMID:28259615|PMID:28492532|PMID:33564012|PMID:34008892 8711305 Ryr1 ryanodine receptor 1 gene DOID:9004484 Sepsis ISO RGD:1586637 D RGD:9068941 20230615 RGD mRNA:increased expression:fast muscle tissue PMID:18520643|REF_RGD_ID:329849107 8711305 Ryr1 ryanodine receptor 1 gene DOID:9004484 Sepsis ISO RGD:1586637 D RGD:9068941 20230615 RGD protein:decreased expression:diaphragmaticus muscle PMID:28044347|REF_RGD_ID:329849111 8711305 Ryr1 ryanodine receptor 1 gene DOID:9004616 Left Ventricular Hypertrophy susceptibility ISO RGD:1316413 D RGD:9068941 20230525 RGD DAN:SNPs:introns:rs2071090,rs10500279,rs2960321(human) PMID:21828061|REF_RGD_ID:329812015 8711305 Ryr1 ryanodine receptor 1 gene DOID:9004649 Heat Stroke treatment ISO RGD:1316414 D RGD:9068941 20230520 RGD PMID:34257294|REF_RGD_ID:329812001 8711305 Ryr1 ryanodine receptor 1 gene DOID:9004757 Axial Myopathy, Late-Onset ISO RGD:1316413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Axial myopathy, late-onset PMID:23329375|PMID:24033266|PMID:25741868|PMID:28492532 8711305 Ryr1 ryanodine receptor 1 gene DOID:9005001 Congenital Neuromuscular Disease, with Uniform Type 1 Fiber ISO RGD:1316413 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Neuromuscular disease, congenital, with uniform type 1 fiber PMID:10888602|PMID:12719381|PMID:14732627|PMID:15731587|PMID:16163667|PMID:16372898|PMID:16732084|PMID:16917943|PMID:16940308|PMID:17033962|PMID:17365175|PMID:17538032|PMID:17576681|PMID:18171678|PMID:18414213|PMID:18719443|PMID:19191329|PMID:19191333|PMID:19346234|PMID:19513315|PMID:19807743|PMID:20142353|PMID:20681998|PMID:20839240|PMID:20981092|PMID:21118704|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21965348|PMID:22415532|PMID:22473935|PMID:22705209|PMID:22734812|PMID:22913516|PMID:22995991|PMID:23035052|PMID:23183335|PMID:23204524|PMID:23329375|PMID:23394784|PMID:23460944|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24195946|PMID:24433488|PMID:25461839|PMID:25614869|PMID:25637381|PMID:25658027|PMID:25735680|PMID:25741868|PMID:25960145|PMID:25985138|PMID:26332594|PMID:26467025|PMID:26565425|PMID:26972305|PMID:26994242|PMID:27147545|PMID:27153395|PMID:27382027|PMID:27855725|PMID:28003660|PMID:28326467|PMID:28492532|PMID:28496993|PMID:28687594|PMID:28818389|PMID:29178655|PMID:29298851|PMID:29382405|PMID:30122538|PMID:30236257|PMID:30325262|PMID:30611313|PMID:30724636|PMID:30788618|PMID:30864471|PMID:31135626|PMID:31321302|PMID:31559918|PMID:31742715|PMID:32098966|PMID:32236737|PMID:32403337|PMID:32528171|PMID:34426522|PMID:34595679|PMID:35587316|PMID:36208971|PMID:36283893|PMID:37273706|PMID:37510298|PMID:37937776|PMID:38582058|PMID:9536098 8711305 Ryr1 ryanodine receptor 1 gene DOID:9005320 Malignant Fever ISO RGD:1316413 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11525881|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434|PMID:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12883402|PMID:12937085|PMID:1329581|PMID:1354642|PMID:14500992|PMID:14641996|PMID:14670767|PMID:14732627|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17122579|PMID:17204937|PMID:17226826|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:18193641|PMID:18212565|PMID:18253926|PMID:18306019|PMID:18414213|PMID:18502356|PMID:18564|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19645060|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20461000|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21282829|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22526018|PMID:22705209|PMID:22734812|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24950660|PMID:24951453|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25611019|PMID:25614869|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26633545|PMID:26951757|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27382027|PMID:27431030|PMID:27555149|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28003660|PMID:28063098|PMID:28166811|PMID:28224104|PMID:28259615|PMID:28325813|PMID:28326467|PMID:28403410|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29382405|PMID:29576327|PMID:29608462|PMID:29635721|PMID:30115273|PMID:30122538|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:31016048|PMID:31055738|PMID:31135626|PMID:31206373|PMID:31321302|PMID:31447099|PMID:31559918|PMID:31589614|PMID:31680349|PMID:31742715|PMID:31903994 8711305 Ryr1 ryanodine receptor 1 gene DOID:9005320 Malignant Fever ISO RGD:1316413 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:32054689|PMID:32236737|PMID:32528171|PMID:32665702|PMID:33146414|PMID:33333461|PMID:33625594|PMID:33767344|PMID:34008892|PMID:35535697|PMID:4149045|PMID:6917943|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9831351|PMID:9873004 8711305 Ryr1 ryanodine receptor 1 gene DOID:9005320 Malignant Fever ISO RGD:1316413 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11525881|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434|PMID:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12883402|PMID:12937085|PMID:1329581|PMID:1354642|PMID:14500992|PMID:14641996|PMID:14670767|PMID:14732627|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17122579|PMID:17204937|PMID:17226826|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:18171678|PMID:18193641|PMID:18212565|PMID:18253|PMID:18253926|PMID:18306019|PMID:18414213|PMID:18502356|PMID:18564|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19645060|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20461000|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21282829|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22526018|PMID:22705209|PMID:22734812|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25517095|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25611019|PMID:25614869|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26633545|PMID:26951757|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27382027|PMID:27431030|PMID:27555149|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28003660|PMID:28063098|PMID:28166811|PMID:28224104|PMID:28259615|PMID:28325813|PMID:28326467|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29576327|PMID:29608462|PMID:29635721|PMID:29792937|PMID:30115273|PMID:30122538|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:30827497|PMID:30842289 8711305 Ryr1 ryanodine receptor 1 gene DOID:9005320 Malignant Fever ISO RGD:1316413 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:30864471|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31135626|PMID:31206373|PMID:31301762|PMID:31321302|PMID:31447099|PMID:31559918|PMID:31589614|PMID:31680349|PMID:31742715|PMID:31903994|PMID:32054689|PMID:32236737|PMID:32528171|PMID:32665702|PMID:33146414|PMID:33258288|PMID:33259453|PMID:33333461|PMID:33458582|PMID:33490280|PMID:33625594|PMID:33646171|PMID:33767344|PMID:34008892|PMID:35285867|PMID:35428369|PMID:35535697|PMID:4149045|PMID:6917943|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9831351|PMID:9873004 8711305 Ryr1 ryanodine receptor 1 gene DOID:9005320 Malignant Fever ISO RGD:1316413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11525881|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434|PMID:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12883402|PMID:12937085|PMID:1329581|PMID:1354642|PMID:14500992|PMID:14641996|PMID:14670767|PMID:14708096|PMID:14732627|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17122579|PMID:17204937|PMID:17226826|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18171678|PMID:18193641|PMID:18212565|PMID:18253|PMID:18253926|PMID:18306019|PMID:18414213|PMID:18502356|PMID:18564|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19645060|PMID:19648156|PMID:19658156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20439600|PMID:20461000|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21282829|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22526018|PMID:22705209|PMID:22734812|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25517095|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25611019|PMID:25614869|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26633545|PMID:26951757|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28003660|PMID:28063098|PMID:28166811|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28325813|PMID:28326467|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29576327|PMID:29608462|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30115273|PMID:30122538|PMID:30155738|PMID:30236257|PMID:30236258 8711305 Ryr1 ryanodine receptor 1 gene DOID:9005320 Malignant Fever ISO RGD:1316413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31130284|PMID:31135626|PMID:31165076|PMID:31206373|PMID:31301762|PMID:31304636|PMID:31321302|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31589614|PMID:31680349|PMID:31742715|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32098966|PMID:32236737|PMID:32528171|PMID:32665702|PMID:33146414|PMID:33258288|PMID:33259453|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33625594|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:35285867|PMID:35428369|PMID:35535697|PMID:4149045|PMID:6917943|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9831351|PMID:9873004 8711305 Ryr1 ryanodine receptor 1 gene DOID:9005320 Malignant Fever ISO RGD:1316413 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Fulminating hyperpyrexia | ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:1069529|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11135728|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11525881|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11673462|PMID:11709545|PMID:11741831|PMID:11873057|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434|PMID:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12719381|PMID:12732639|PMID:12883402|PMID:12937085|PMID:1354642|PMID:14500992|PMID:14641996|PMID:14670767|PMID:14708096|PMID:14732627|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15299003|PMID:15347586|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081125|PMID:17081152|PMID:17122579|PMID:17204054|PMID:17204937|PMID:17226826|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17667681|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18063506|PMID:1810122|PMID:18171678|PMID:18193641|PMID:18212565|PMID:18253|PMID:18253926|PMID:18306019|PMID:1836259|PMID:18414213|PMID:18502356|PMID:18505122|PMID:18564|PMID:18564801|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19454545|PMID:19513315|PMID:19541610|PMID:19645060|PMID:19648156|PMID:19658156|PMID:19685112|PMID:19797833|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20301565|PMID:20439600|PMID:20461000|PMID:2047609|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21282829|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21804810|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22407809|PMID:22415532|PMID:22418739|PMID:22473935|PMID:22526018|PMID:22696611|PMID:22705209|PMID:22734812|PMID:22851008|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23422674|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24013571|PMID:24033266|PMID:24053352|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24706162|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25326637|PMID:25370123|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25517095|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25611019|PMID:25614869|PMID:25635128|PMID:25637381|PMID:25658027|PMID:2567381|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25882082|PMID:25944380|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25987458|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26275793|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26633545|PMID:26841830|PMID:26951757|PMID:26972305|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27066551|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27234031|PMID:27353517|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27447704|PMID:27452334 8711305 Ryr1 ryanodine receptor 1 gene DOID:9005320 Malignant Fever ISO RGD:1316413 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Fulminating hyperpyrexia | ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:27545679|PMID:27558158|PMID:27586648|PMID:27616680|PMID:27646467|PMID:27663056|PMID:27708273|PMID:27831900|PMID:27854218|PMID:27855725|PMID:27857962|PMID:27858745|PMID:27918309|PMID:28003660|PMID:28007021|PMID:28063098|PMID:28078069|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28290972|PMID:28325813|PMID:28326467|PMID:28357410|PMID:28403410|PMID:2842332|PMID:28424332|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28687594|PMID:28750945|PMID:28818389|PMID:29028638|PMID:29096039|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29261186|PMID:29298851|PMID:29344738|PMID:29355282|PMID:29382405|PMID:29417091|PMID:29576327|PMID:29608462|PMID:29629541|PMID:29635721|PMID:29667327|PMID:29701772|PMID:29792937|PMID:29802573|PMID:30115273|PMID:30122538|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30652412|PMID:30724636|PMID:30755392|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:30872186|PMID:30916033|PMID:31016048|PMID:31055738|PMID:31068157|PMID:31107960|PMID:31127727|PMID:31130284|PMID:31135626|PMID:31165076|PMID:31206373|PMID:31301762|PMID:31304636|PMID:31321302|PMID:31395954|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31589614|PMID:31618753|PMID:31680123|PMID:31680349|PMID:31742715|PMID:31841587|PMID:31851124|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32098966|PMID:32236737|PMID:32304219|PMID:32371413|PMID:32381727|PMID:32403337|PMID:32461654|PMID:32528171|PMID:32573669|PMID:32600061|PMID:32665702|PMID:32861507|PMID:32899693|PMID:32978841|PMID:33037202|PMID:33060286|PMID:33124102|PMID:33146414|PMID:33176865|PMID:33190635|PMID:33258288|PMID:33259453|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33625594|PMID:33646171|PMID:33726816|PMID:33758288|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34127251|PMID:34316023|PMID:34411415|PMID:34426522|PMID:34428338|PMID:34440373|PMID:34463354|PMID:34528764|PMID:34535181|PMID:34595679|PMID:34625927|PMID:34645488|PMID:34707284|PMID:34809703|PMID:34849273|PMID:34904211|PMID:34970863|PMID:35081925|PMID:35178478|PMID:35285867|PMID:35304488|PMID:35361824|PMID:35387801|PMID:35428369|PMID:35535697|PMID:35548885|PMID:35549722|PMID:35587316|PMID:35599849|PMID:35627144|PMID:35666680|PMID:35693006|PMID:35697689|PMID:35718563|PMID:35846108|PMID:35849058|PMID:36100962|PMID:36131268|PMID:36208971|PMID:3626847|PMID:36283893|PMID:36474027|PMID:36628841|PMID:36697461|PMID:36757698|PMID:36833224|PMID:36939041|PMID:36983702|PMID:37273706|PMID:37432431|PMID:37510298|PMID:37541188|PMID:37712079|PMID:37787745|PMID:37838930|PMID:37937776|PMID:37996280|PMID:38582058|PMID:39033378|PMID:39825153|PMID:4149045|PMID:6917943|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8010475|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9543323|PMID:9831351|PMID:9873004 8711305 Ryr1 ryanodine receptor 1 gene DOID:9005532 Muscle Weakness ISO RGD:1316413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscle weakness PMID:25741868|PMID:28492532 8711305 Ryr1 ryanodine receptor 1 gene DOID:9005560 Congenital Hip Dislocation ISO RGD:1316413 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Congenital hip dislocation PMID:18813041|PMID:20301325|PMID:21878807|PMID:21918424|PMID:22473935|PMID:22851008|PMID:23329375|PMID:23394784|PMID:24055113|PMID:24195946|PMID:24433488|PMID:25637381|PMID:25735680|PMID:25741868|PMID:26332594|PMID:26467025|PMID:27058611|PMID:27147545|PMID:27153395|PMID:28492532|PMID:30155738|PMID:30236257|PMID:30406384|PMID:30842289|PMID:33646171|PMID:33767344|PMID:35428369|PMID:35599849 8711305 Ryr1 ryanodine receptor 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:1316413 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: poor muscle tone PMID:16199547|PMID:16835904|PMID:23919265|PMID:24033266|PMID:25741868|PMID:25944380|PMID:25960145|PMID:28492532|PMID:28818389|PMID:30611313 8711305 Ryr1 ryanodine receptor 1 gene DOID:9006956 nephrotoxicity treatment ISO RGD:1586637 D RGD:9068941 20230622 RGD PMID:37244046|REF_RGD_ID:329853759 8711305 Ryr1 ryanodine receptor 1 gene DOID:9007052 Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay ISO RGD:1316413 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Myopathy, progressive axial with cataracts PMID:18813041|PMID:20301325|PMID:21878807|PMID:21918424|PMID:22473935|PMID:22851008|PMID:23329375|PMID:23394784|PMID:24055113|PMID:24195946|PMID:24433488|PMID:25637381|PMID:25735680|PMID:25741868|PMID:26332594|PMID:26467025|PMID:27058611|PMID:27147545|PMID:27153395|PMID:28492532|PMID:30155738|PMID:30236257|PMID:30406384|PMID:30842289|PMID:33646171|PMID:33767344|PMID:35428369|PMID:35599849 8711305 Ryr1 ryanodine receptor 1 gene DOID:9007661 Dwarfism ISO RGD:1316413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short stature PMID:19191333|PMID:25741868|PMID:28492532|PMID:32403337|PMID:33333461|PMID:34106991 8711305 Ryr1 ryanodine receptor 1 gene DOID:9007908 Aortic Coarctation ISO RGD:1316413 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Aorta coarctation PMID:16835904|PMID:24033266|PMID:25741868 8711305 Ryr1 ryanodine receptor 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1316413 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:30755392 8711305 Ryr1 ryanodine receptor 1 gene DOID:9008386 Hydrops Fetalis ISO RGD:1316413 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Hydrops fetalis PMID:17033962|PMID:18414213|PMID:20080402|PMID:21911697|PMID:22473935|PMID:23553787|PMID:23919265|PMID:24033266|PMID:24088041|PMID:24195946|PMID:24951453|PMID:25476234|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25960145|PMID:26332594|PMID:26633545|PMID:27854218|PMID:28492532|PMID:28818389|PMID:30609409|PMID:30611313|PMID:31680349|PMID:33333461 8711305 Ryr1 ryanodine receptor 1 gene DOID:9008675 Dyskinesias ISO RGD:1316413 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Involuntary movements PMID:25741868|PMID:30755392 8711305 Ryr1 ryanodine receptor 1 gene DOID:9008914 Lead Poisoning ISO RGD:1316413 D RGD:9068941 20230525 RGD mRNA:decreased expression:peripheral blood mononuclear cell PMID:30661027|REF_RGD_ID:329812013 8711305 Ryr1 ryanodine receptor 1 gene DOID:9008965 Bronchomalacia ISO RGD:1316413 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Bronchomalacia PMID:16835904|PMID:24033266|PMID:25741868 8711305 Ryr1 ryanodine receptor 1 gene DOID:9008993 Myotonia ISO RGD:1316413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myotonia PMID:25741868|PMID:28492532 8711305 Ryr1 ryanodine receptor 1 gene DOID:9410 combined pituitary hormone deficiency ISO RGD:1316413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Panhypopituitarism PMID:25741868|PMID:28492532 8711305 Ryr1 ryanodine receptor 1 gene DOID:9970 obesity ISO RGD:1316413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity PMID:25741868|PMID:28492532 8711416 Ppp1r10 protein phosphatase 1 regulatory subunit 10 gene DOID:1059 intellectual disability ISO RGD:732967 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Intellectual disability, moderate PMID:25741868 8711416 Ppp1r10 protein phosphatase 1 regulatory subunit 10 gene DOID:11372 megacolon ISO RGD:732967 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8711447 Rab1b RAB1B, member RAS oncogene family gene DOID:0061060 immunodeficiency 90 ISO RGD:1345480 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8711447 Rab1b RAB1B, member RAS oncogene family gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1345480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 8711447 Rab1b RAB1B, member RAS oncogene family gene DOID:1059 intellectual disability ISO RGD:1345480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8711447 Rab1b RAB1B, member RAS oncogene family gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1345480 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8711447 Rab1b RAB1B, member RAS oncogene family gene DOID:2746 glycogen storage disease V ISO RGD:1345480 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8711447 Rab1b RAB1B, member RAS oncogene family gene DOID:9007102 Myocardial Ischemia ISO RGD:1345480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8711447 Rab1b RAB1B, member RAS oncogene family gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1345480 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8711469 Adgrb1 adhesion G protein-coupled receptor B1 gene DOID:10534 stomach cancer disease_progression ISO RGD:1313737 D RGD:9068941 20200609 RGD PMID:11172604|REF_RGD_ID:13831357 8711469 Adgrb1 adhesion G protein-coupled receptor B1 gene DOID:3008 invasive ductal carcinoma disease_progression ISO RGD:1313737 D RGD:9068941 20200609 RGD PMID:25376607|REF_RGD_ID:13831358 8711469 Adgrb1 adhesion G protein-coupled receptor B1 gene DOID:3068 glioblastoma ISO RGD:1313737 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain: PMID:12507886|REF_RGD_ID:13831355 8711469 Adgrb1 adhesion G protein-coupled receptor B1 gene DOID:3068 glioblastoma treatment ISO RGD:1313737 D RGD:9068941 20200609 RGD PMID:16244591|REF_RGD_ID:13831352 8711469 Adgrb1 adhesion G protein-coupled receptor B1 gene DOID:3069 malignant astrocytoma severity ISO RGD:1313737 D RGD:9068941 20200609 RGD PMID:23761815|REF_RGD_ID:13831356 8711469 Adgrb1 adhesion G protein-coupled receptor B1 gene DOID:4074 pancreatic adenocarcinoma ISO RGD:1313737 D RGD:9068941 20200609 RGD mRNA:decreased expression:pancreas PMID:11875720|REF_RGD_ID:13831350 8711469 Adgrb1 adhesion G protein-coupled receptor B1 gene DOID:4450 renal cell carcinoma severity ISO RGD:1313737 D RGD:9068941 20200609 RGD PMID:21511296|REF_RGD_ID:13831349 8711469 Adgrb1 adhesion G protein-coupled receptor B1 gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:1313737 D RGD:9068941 20200609 RGD associated with stomach cancer; PMID:11172604|REF_RGD_ID:13831357 8711469 Adgrb1 adhesion G protein-coupled receptor B1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1313737 D RGD:9068941 20200609 RGD associated with colorectal cancer PMID:9772287|REF_RGD_ID:13831353 8711469 Adgrb1 adhesion G protein-coupled receptor B1 gene DOID:9003884 Recombinant Chromosome 8 Syndrome ISO RGD:1313737 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Recombinant 8 syndrome PMID:31690835 8711469 Adgrb1 adhesion G protein-coupled receptor B1 gene DOID:9256 colorectal cancer ISO RGD:1313737 D RGD:9068941 20200609 RGD mRNA:decreased expression:colorectum PMID:9772287|REF_RGD_ID:13831353 8711509 Syn2 synapsin II gene DOID:0060041 autism spectrum disorder ISO RGD:736268 D RGD:9068941 20220825 MouseDO 8711509 Syn2 synapsin II gene DOID:0080600 COVID-19 ISO RGD:736267 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8711509 Syn2 synapsin II gene DOID:1826 epilepsy ISO RGD:736268 D RGD:9068941 20220825 MouseDO 8711509 Syn2 synapsin II gene DOID:5419 schizophrenia ISO RGD:736267 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: SYN2-related condition | ClinVar Annotator: match by term: Schizophrenia PMID:25741868 8711509 Syn2 synapsin II gene DOID:5419 schizophrenia susceptibility ISO RGD:736267 D RGD:7240710 20230505 OMIM 8711509 Syn2 synapsin II gene DOID:9002211 Hyperalgesia ISO RGD:736267 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18701217 8711525 Kcnab1 potassium voltage-gated channel subfamily A regulatory beta subunit 1 gene DOID:10763 hypertension ISO RGD:61827 D RGD:9068941 20200609 RGD mRNA:increased expression:aorta, arteries (rat) PMID:11358947|REF_RGD_ID:1627659 8711525 Kcnab1 potassium voltage-gated channel subfamily A regulatory beta subunit 1 gene DOID:3328 temporal lobe epilepsy susceptibility ISO RGD:1607081 D RGD:9068941 20200609 RGD DNA:snps, haplotypes:multiple (human) PMID:21333500|REF_RGD_ID:9743959 8711525 Kcnab1 potassium voltage-gated channel subfamily A regulatory beta subunit 1 gene DOID:9002669 Hypoxia ISO RGD:62118 D RGD:9068941 20200609 RGD mRNA:decreased expression:carotid body (mouse) PMID:15890701|REF_RGD_ID:9743958 8711549 Izumo1r IZUMO1 receptor, JUNO gene DOID:1059 intellectual disability ISO RGD:2303851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8711564 Aco2 aconitase 2 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:733187 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8711564 Aco2 aconitase 2 gene DOID:0050883 infantile cerebellar-retinal degeneration ISO RGD:733187 D RGD:7240710 20180130 OMIM 8711564 Aco2 aconitase 2 gene DOID:0050883 infantile cerebellar-retinal degeneration ISO RGD:733187 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Infantile cerebellar-retinal degeneration PMID:17576681|PMID:22405087|PMID:24088041|PMID:25351951|PMID:25741868|PMID:26992325|PMID:27435318|PMID:27528516|PMID:28492532|PMID:2854533|PMID:28545339|PMID:28559085|PMID:29564393|PMID:29577077|PMID:30118607|PMID:30689204|PMID:31130284|PMID:32214227|PMID:32449285|PMID:3248392|PMID:32483926|PMID:32519519|PMID:34056600|PMID:34234304|PMID:34426522|PMID:36294366|PMID:9536098 8711564 Aco2 aconitase 2 gene DOID:0080600 COVID-19 ISO RGD:733187 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8711564 Aco2 aconitase 2 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:733187 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 8711564 Aco2 aconitase 2 gene DOID:0111442 optic atrophy 9 ISO RGD:733187 D RGD:7240710 20180130 OMIM 8711564 Aco2 aconitase 2 gene DOID:0111442 optic atrophy 9 ISO RGD:733187 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: ACO2-related disorder | ClinVar Annotator: match by term: OPTIC ATROPHY 9, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Optic atrophy 9 PMID:16199547|PMID:24088041|PMID:25351951|PMID:25741868|PMID:26992325|PMID:27528516|PMID:28492532|PMID:30118607|PMID:30689204|PMID:32449285|PMID:3248392|PMID:32483926|PMID:32519519|PMID:34056600|PMID:34234304|PMID:34426522|PMID:36294366|PMID:37734845 8711564 Aco2 aconitase 2 gene DOID:11394 adult respiratory distress syndrome ISO RGD:733187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 8711564 Aco2 aconitase 2 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:733187 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 PMID:28492532 8711564 Aco2 aconitase 2 gene DOID:3890 acute intermittent porphyria ISO RGD:733187 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Acute intermittent porphyria PMID:25741868 8711564 Aco2 aconitase 2 gene DOID:5723 optic atrophy ISO RGD:733187 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:25351951|PMID:25741868|PMID:28492532|PMID:2854533|PMID:30118607|PMID:32449285|PMID:34056600|PMID:34234304|PMID:34426522 8711564 Aco2 aconitase 2 gene DOID:630 genetic disease ISO RGD:733187 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:27528516|PMID:28492532|PMID:30689204|PMID:3248392|PMID:32483926|PMID:32519519|PMID:34056600|PMID:36294366|PMID:37460232|PMID:37734845|PMID:9536098 8711564 Aco2 aconitase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:733187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 8711564 Aco2 aconitase 2 gene DOID:700 mitochondrial metabolism disease ISO RGD:733187 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:25741868 8711564 Aco2 aconitase 2 gene DOID:8501 fundus dystrophy ISO RGD:733187 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25351951|PMID:25741868|PMID:27528516|PMID:28492532|PMID:30118607|PMID:32449285|PMID:3248392|PMID:32483926|PMID:34056600|PMID:34234304|PMID:34426522|PMID:36294366 8711564 Aco2 aconitase 2 gene DOID:9008086 Developmental Disabilities ISO RGD:733187 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 8711586 Mindy1 MINDY lysine 48 deubiquitinase 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1603985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8711586 Mindy1 MINDY lysine 48 deubiquitinase 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1603985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8711586 Mindy1 MINDY lysine 48 deubiquitinase 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1603985 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8711586 Mindy1 MINDY lysine 48 deubiquitinase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1603985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8711586 Mindy1 MINDY lysine 48 deubiquitinase 1 gene DOID:5812 MHC class II deficiency ISO RGD:1603985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8711586 Mindy1 MINDY lysine 48 deubiquitinase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8711623 Apoa5 apolipoprotein A5 gene DOID:0070614 chromosome 11 partial duplication syndrome ISO RGD:736192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8711623 Apoa5 apolipoprotein A5 gene DOID:0111123 nephronophthisis 15 ISO RGD:736192 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 15 PMID:22863007|PMID:28125082|PMID:28492532|PMID:32367404|PMID:34132027|PMID:34499853 8711623 Apoa5 apolipoprotein A5 gene DOID:0111421 familial apolipoprotein A5 deficiency ISO RGD:736192 D RGD:7240710 20250305 OMIM 8711623 Apoa5 apolipoprotein A5 gene DOID:1059 intellectual disability ISO RGD:736192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8711623 Apoa5 apolipoprotein A5 gene DOID:1171 hyperlipoproteinemia type V ISO RGD:736192 D RGD:7240710 20250305 OMIM 8711623 Apoa5 apolipoprotein A5 gene DOID:1171 hyperlipoproteinemia type V ISO RGD:736192 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Familial type 5 hyperlipoproteinemia PMID:12417524|PMID:12417525|PMID:16200213|PMID:16806135|PMID:18324930|PMID:19447388|PMID:21993410|PMID:23151256|PMID:23307945|PMID:24591733|PMID:24793350|PMID:25487149|PMID:25741868|PMID:27108409|PMID:27578109|PMID:27678447|PMID:28492532|PMID:28951076|PMID:29954705|PMID:31619059|PMID:31980526|PMID:32041611|PMID:33111339|PMID:36325899 8711623 Apoa5 apolipoprotein A5 gene DOID:1172 hyperlipoproteinemia type IV ISO RGD:736192 D RGD:7240710 20250305 OMIM 8711623 Apoa5 apolipoprotein A5 gene DOID:14118 familial lipoprotein lipase deficiency ISO RGD:736192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperlipoproteinemia, type I PMID:25741868 8711623 Apoa5 apolipoprotein A5 gene DOID:1459 hypothyroidism ISO RGD:70903 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:15941710|REF_RGD_ID:1601661 8711623 Apoa5 apolipoprotein A5 gene DOID:3145 hyperlipoproteinemia type III ISO RGD:736192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16143024 8711623 Apoa5 apolipoprotein A5 gene DOID:3393 coronary artery disease ISO RGD:736192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24097064 8711623 Apoa5 apolipoprotein A5 gene DOID:3393 coronary artery disease ISO RGD:736192 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-1131T>C (human) PMID:15177130|REF_RGD_ID:2313322 8711623 Apoa5 apolipoprotein A5 gene DOID:3393 coronary artery disease no_association ISO RGD:736192 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-1131T>C, c.56C>G (human) PMID:15306190|REF_RGD_ID:1578412 8711623 Apoa5 apolipoprotein A5 gene DOID:3526 cerebral infarction ISO RGD:736192 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :-1131T>C (human) PMID:19107359|REF_RGD_ID:2313314 8711623 Apoa5 apolipoprotein A5 gene DOID:9000810 HYPERTRIGLYCERIDEMIA 1 ISO RGD:736192 D RGD:7240710 20250305 OMIM 8711623 Apoa5 apolipoprotein A5 gene DOID:9000810 HYPERTRIGLYCERIDEMIA 1 ISO RGD:736192 D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: APOA5-related condition | ClinVar Annotator: match by term: Hypertriglyceridemia 1 | ClinVar Annotator: match by term: Hypertriglyceridemia, familial PMID:11588264|PMID:12417524|PMID:12417525|PMID:12915450|PMID:17576681|PMID:18324930|PMID:18635818|PMID:19447388|PMID:20657596|PMID:23151256|PMID:23307945|PMID:24387992|PMID:24591733|PMID:24793350|PMID:25127531|PMID:25487149|PMID:25741868|PMID:27108409|PMID:28492532|PMID:29954705|PMID:31980526|PMID:32041611|PMID:36325899|PMID:9536098 8711623 Apoa5 apolipoprotein A5 gene DOID:9002180 Familial Hyperchylomicronemia Syndrome ISO RGD:736192 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Hyperlipoproteinemia type 1 PMID:25741868 8711623 Apoa5 apolipoprotein A5 gene DOID:9004581 Pediatric Obesity ISO RGD:736192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25137265 8711623 Apoa5 apolipoprotein A5 gene DOID:9006599 Hypertriglyceridemia ISO RGD:736192 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypertriglyceridemia PMID:18324930|PMID:19447388|PMID:23151256|PMID:23307945|PMID:24591733|PMID:24793350|PMID:25487149|PMID:25741868|PMID:27108409|PMID:28492532|PMID:32041611 8711623 Apoa5 apolipoprotein A5 gene DOID:9006646 Metabolic Syndrome susceptibility ISO RGD:736192 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.S19W (human) PMID:18789138|REF_RGD_ID:2313315 8711623 Apoa5 apolipoprotein A5 gene DOID:9007571 Hyperlipoproteinemias ISO RGD:736192 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :-1131T>C, p.S19W (human) PMID:18468520|REF_RGD_ID:2313317 8711623 Apoa5 apolipoprotein A5 gene DOID:9007661 Dwarfism ISO RGD:736192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8711623 Apoa5 apolipoprotein A5 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736192 D RGD:9068941 20200609 RGD PMID:16039297|REF_RGD_ID:2313321 8711623 Apoa5 apolipoprotein A5 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736192 D RGD:9068941 20200609 RGD DNA:polymorphism: :-1131T>C (human) PMID:17548321|REF_RGD_ID:2313318 8711623 Apoa5 apolipoprotein A5 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:736192 D RGD:9068941 20200609 RGD DNA:polymorphism: :c.553G>T (human) PMID:17087641|REF_RGD_ID:2313319 8711623 Apoa5 apolipoprotein A5 gene DOID:9970 obesity ISO RGD:1625089 D RGD:9068941 20230624 RGD DNA:SNP: :rs662799 (human) PMID:25606423|REF_RGD_ID:329901774 8711636 Tcte1 t-complex-associated-testis-expressed 1 gene DOID:12336 male infertility ISO RGD:1313959 D RGD:9068941 20220825 MouseDO 8711659 Exoc6b exocyst complex component 6B gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1349809 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 8711659 Exoc6b exocyst complex component 6B gene DOID:0112200 spondyloepimetaphyseal dysplasia with joint laxity type 3 ISO RGD:1349809 D RGD:7240710 20190515 OMIM 8711659 Exoc6b exocyst complex component 6B gene DOID:0112200 spondyloepimetaphyseal dysplasia with joint laxity type 3 ISO RGD:1349809 D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: EXOC6B-related condition | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 3 PMID:25741868|PMID:26669664|PMID:28492532|PMID:30284759 8711659 Exoc6b exocyst complex component 6B gene DOID:5419 schizophrenia ISO RGD:1349809 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 8711659 Exoc6b exocyst complex component 6B gene DOID:543 dystonia ISO RGD:1349809 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8711659 Exoc6b exocyst complex component 6B gene DOID:630 genetic disease ISO RGD:1349809 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8711659 Exoc6b exocyst complex component 6B gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1349809 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8711688 Tbx6 T-box transcription factor 6 gene DOID:0050568 spondylocostal dysostosis ISO RGD:1317068 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Costovertebral segmentation anomalies PMID:25564734|PMID:25741868|PMID:28492532|PMID:30636772|PMID:31015262|PMID:31471994|PMID:36112137 8711688 Tbx6 T-box transcription factor 6 gene DOID:0060019 coronin-1A deficiency ISO RGD:1317068 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:14615364|PMID:18836449|PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:25073507|PMID:2825199|PMID:28492532 8711688 Tbx6 T-box transcription factor 6 gene DOID:0060041 autism spectrum disorder ISO RGD:1317068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 8711688 Tbx6 T-box transcription factor 6 gene DOID:0060249 scoliosis ISO RGD:1317068 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Scoliosis PMID:25564734|PMID:25741868|PMID:28054739|PMID:28492532|PMID:31015262|PMID:31471994|PMID:36112137 8711688 Tbx6 T-box transcription factor 6 gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:1317068 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 8711688 Tbx6 T-box transcription factor 6 gene DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb ISO RGD:1317068 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome PMID:25741868|PMID:31690835 8711688 Tbx6 T-box transcription factor 6 gene DOID:0080205 CAKUT ISO RGD:1317068 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30578417 8711688 Tbx6 T-box transcription factor 6 gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:1317068 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:14615364|PMID:18836449|PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:25073507|PMID:2825199|PMID:28492532 8711688 Tbx6 T-box transcription factor 6 gene DOID:0112362 spondylocostal dysostosis 2 ISO RGD:1317068 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 2, autosomal recessive PMID:20503311|PMID:23335591 8711688 Tbx6 T-box transcription factor 6 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1317068 D RGD:7240710 20180130 OMIM 8711688 Tbx6 T-box transcription factor 6 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1317068 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 | ClinVar Annotator: match by term: TBX6-related condition PMID:20503311|PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868|PMID:27861764|PMID:28054739|PMID:28492532|PMID:28990171|PMID:30636772|PMID:31015262|PMID:31471994|PMID:35846898|PMID:36112137|PMID:36161696 8711688 Tbx6 T-box transcription factor 6 gene DOID:12849 autistic disorder ISO RGD:1317068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8711688 Tbx6 T-box transcription factor 6 gene DOID:12930 dilated cardiomyopathy ISO RGD:1317068 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant PMID:28492532 8711688 Tbx6 T-box transcription factor 6 gene DOID:5419 schizophrenia ISO RGD:1317068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8711688 Tbx6 T-box transcription factor 6 gene DOID:630 genetic disease ISO RGD:1317068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28054739|PMID:28492532|PMID:30636772|PMID:31471994 8711688 Tbx6 T-box transcription factor 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532 8711688 Tbx6 T-box transcription factor 6 gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:1317068 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:14615364|PMID:18836449|PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:25073507|PMID:2825199|PMID:28492532 8711688 Tbx6 T-box transcription factor 6 gene DOID:9009225 Episodic Kinesigenic Dyskinesia ISO RGD:1317068 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia PMID:14615364|PMID:18836449|PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:25073507|PMID:2825199|PMID:28492532 8711727 Klhl21 kelch like family member 21 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1351698 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8711727 Klhl21 kelch like family member 21 gene DOID:3070 high grade glioma ISO RGD:1351698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 8711727 Klhl21 kelch like family member 21 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8711742 Pltp phospholipid transfer protein gene DOID:0080540 galactosialidosis ISO RGD:1315460 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Combined deficiency of sialidase AND beta galactosidase PMID:15110321|PMID:23915561|PMID:25741868|PMID:28492532 8711742 Pltp phospholipid transfer protein gene DOID:10140 dry eye syndrome ISO RGD:1315461 D RGD:9068941 20220825 MouseDO 8711742 Pltp phospholipid transfer protein gene DOID:1936 atherosclerosis ISO RGD:1315460 D RGD:9068941 20200609 RGD protein:increased expression:coronary artery (human) PMID:12835223|REF_RGD_ID:1581039 8711742 Pltp phospholipid transfer protein gene DOID:2234 focal epilepsy ISO RGD:1315460 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8711742 Pltp phospholipid transfer protein gene DOID:5810 adenosine deaminase deficiency ISO RGD:1315460 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency PMID:26255240|PMID:26376800|PMID:28492532 8711742 Pltp phospholipid transfer protein gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1315460 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 8711742 Pltp phospholipid transfer protein gene DOID:9000528 Coronary Disease susceptibility ISO RGD:1315460 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:14695459|REF_RGD_ID:1581038 8711742 Pltp phospholipid transfer protein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1315460 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8711742 Pltp phospholipid transfer protein gene DOID:9003370 Dyslipidemias ISO RGD:1315460 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17952847 8711742 Pltp phospholipid transfer protein gene DOID:9006599 Hypertriglyceridemia ISO RGD:1315460 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12754275 8711742 Pltp phospholipid transfer protein gene DOID:9007692 Insulin Resistance ISO RGD:1315460 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12754275 8711803 Corin corin, serine peptidase gene DOID:0060224 atrial fibrillation ISO RGD:1343750 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Atrial fibrillation PMID:25741868|PMID:37913506 8711803 Corin corin, serine peptidase gene DOID:10283 prostate cancer ISO RGD:1343750 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8711803 Corin corin, serine peptidase gene DOID:10591 pre-eclampsia ISO RGD:1343750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8711803 Corin corin, serine peptidase gene DOID:10763 hypertension ISO RGD:1343750 D RGD:9068941 20200609 RGD PMID:16216958|REF_RGD_ID:1581219 8711803 Corin corin, serine peptidase gene DOID:10763 hypertension ISO RGD:1343750 D RGD:9068941 20200609 RGD DNA:SNPs:associated with increased risk PMID:17485366|REF_RGD_ID:1626338 8711803 Corin corin, serine peptidase gene DOID:6000 congestive heart failure ISO RGD:727887 D RGD:9068941 20200609 RGD mRNA:decreased expression:left atrium, right atrium (rat) PMID:15155264|REF_RGD_ID:1581218 8711803 Corin corin, serine peptidase gene DOID:6000 congestive heart failure ISO RGD:727887 D RGD:9068941 20200609 RGD mRNA:increased expression:heart (rat) PMID:15191894|REF_RGD_ID:1581217 8711803 Corin corin, serine peptidase gene DOID:630 genetic disease ISO RGD:1343750 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8711803 Corin corin, serine peptidase gene DOID:9003936 Cardiomegaly ISO RGD:1343750 D RGD:9068941 20200609 RGD DNA:SNPs:associated with increased risk PMID:17485366|REF_RGD_ID:1626338 8711803 Corin corin, serine peptidase gene DOID:9003936 Cardiomegaly ISO RGD:727887 D RGD:9068941 20200609 RGD mRNA:increased expression:heart (rat) PMID:15191894|REF_RGD_ID:1581217 8711803 Corin corin, serine peptidase gene DOID:9007654 FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 30, ATRIAL ISO RGD:1343750 D RGD:7240710 20240320 OMIM 8711803 Corin corin, serine peptidase gene DOID:9007654 FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 30, ATRIAL ISO RGD:1343750 D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: CORIN-related condition | ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic, 30, atrial PMID:25741868|PMID:28492532|PMID:37913506 8711803 Corin corin, serine peptidase gene DOID:9008441 Preeclampsia/Eclampsia 5 ISO RGD:1343750 D RGD:7240710 20180130 OMIM 8711803 Corin corin, serine peptidase gene DOID:9008441 Preeclampsia/Eclampsia 5 ISO RGD:1343750 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Preeclampsia/eclampsia 5 PMID:22437503|PMID:24828501|PMID:25741868|PMID:28492532 8711829 Crebrf CREB3 regulatory factor gene DOID:0110112 atrial heart septal defect 7 ISO RGD:1603892 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome PMID:17891520|PMID:20456451|PMID:25205790|PMID:26014430|PMID:28492532 8711829 Crebrf CREB3 regulatory factor gene DOID:9006886 Atrial Septal Defect with Atrioventricular Conduction Defects ISO RGD:1603892 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects PMID:17891520|PMID:20456451|PMID:25205790|PMID:26014430|PMID:28492532 8711863 Mgst3 microsomal glutathione S-transferase 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1314953 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8711863 Mgst3 microsomal glutathione S-transferase 3 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1314953 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to 8711863 Mgst3 microsomal glutathione S-transferase 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1314953 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8711879 Slc49a3 solute carrier family 49 member 3 gene DOID:0110375 retinitis pigmentosa 40 ISO RGD:1604571 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 40 8711879 Slc49a3 solute carrier family 49 member 3 gene DOID:1856 cherubism ISO RGD:1604571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 8711879 Slc49a3 solute carrier family 49 member 3 gene DOID:9005541 Mental Retardation, Autosomal Recessive 53 ISO RGD:1604571 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY PMID:26996948|PMID:28492532|PMID:28581210|PMID:28771251|PMID:34113002 8711893 Spats2l spermatogenesis associated serine rich 2 like gene DOID:0060224 atrial fibrillation ISO RGD:1607063 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 8711893 Spats2l spermatogenesis associated serine rich 2 like gene DOID:0080600 COVID-19 ISO RGD:1607063 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8711893 Spats2l spermatogenesis associated serine rich 2 like gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1607063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 8711893 Spats2l spermatogenesis associated serine rich 2 like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1607063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8711928 Nap1l1 nucleosome assembly protein 1 like 1 gene DOID:11240 appendiceal neoplasm severity ISO RGD:737279 D RGD:9068941 20200609 RGD mRNA:increased expression:appendix, mucosa (human) PMID:16794389|REF_RGD_ID:9590083 8711928 Nap1l1 nucleosome assembly protein 1 like 1 gene DOID:1793 pancreatic cancer ISO RGD:737279 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:25071868|REF_RGD_ID:9590074 8711928 Nap1l1 nucleosome assembly protein 1 like 1 gene DOID:687 hepatoblastoma ISO RGD:737279 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (human) PMID:12935928|REF_RGD_ID:9590075 8711928 Nap1l1 nucleosome assembly protein 1 like 1 gene DOID:9002669 Hypoxia ISO RGD:71094 D RGD:9068941 20200609 RGD protein:decreased dimerization:hippocampus (rat) PMID:24893663|REF_RGD_ID:9590077 8711928 Nap1l1 nucleosome assembly protein 1 like 1 gene DOID:9004109 Intestinal Carcinoid Tumors ISO RGD:737279 D RGD:9068941 20200609 RGD mRNA:increased expression:intestinal mucosa (human) PMID:16424981|REF_RGD_ID:9590082 8711928 Nap1l1 nucleosome assembly protein 1 like 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:737279 D RGD:9068941 20200609 RGD mRNA:increased expression:colon (human) PMID:12384809|REF_RGD_ID:9590076 8711974 Wwc2 WW and C2 domain containing 2 gene DOID:2843 long QT syndrome ISO RGD:1605043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 8712001 Emp3 epithelial membrane protein 3 (MAM blood group) gene DOID:9002304 Prostatic Neoplasms ISO RGD:731841 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15583422 8712019 Ift57 intraflagellar transport 57 gene DOID:0060961 orofaciodigital syndrome XVIII ISO RGD:1314279 D RGD:7240710 20190315 OMIM 8712019 Ift57 intraflagellar transport 57 gene DOID:0060961 orofaciodigital syndrome XVIII ISO RGD:1314279 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: IFT57-related condition | ClinVar Annotator: match by term: Orofaciodigital syndrome 18 PMID:25741868|PMID:27060890|PMID:28492532|PMID:32860008 8712019 Ift57 intraflagellar transport 57 gene DOID:12858 Huntington's disease ISO RGD:1314280 D RGD:9068941 20200609 RGD protein:altered localization:cilia PMID:25989602|REF_RGD_ID:13432581 8712034 Cul5 cullin 5 gene DOID:0070614 chromosome 11 partial duplication syndrome ISO RGD:733947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8712034 Cul5 cullin 5 gene DOID:1059 intellectual disability ISO RGD:733947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8712034 Cul5 cullin 5 gene DOID:12704 ataxia telangiectasia ISO RGD:733947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 8712034 Cul5 cullin 5 gene DOID:9000998 Brain Injuries ISO RGD:621742 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:cerebral cortex, hippocampus PMID:17010517|REF_RGD_ID:2301432 8712034 Cul5 cullin 5 gene DOID:9001708 Hemorrhagic Shock ISO RGD:621742 D RGD:9068941 20200609 RGD mRNA:altered expression:brain PMID:12635525|REF_RGD_ID:2301433 8712034 Cul5 cullin 5 gene DOID:9008939 Breast Neoplasms ISO RGD:733947 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20949323 8712066 Stard7 StAR related lipid transfer domain containing 7 gene DOID:0050771 pheochromocytoma ISO RGD:1316908 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Pheochromocytoma PMID:20301715 8712066 Stard7 StAR related lipid transfer domain containing 7 gene DOID:0111692 familial adult myoclonic epilepsy 2 ISO RGD:1316908 D RGD:7240710 20191127 OMIM 8712066 Stard7 StAR related lipid transfer domain containing 7 gene DOID:0111692 familial adult myoclonic epilepsy 2 ISO RGD:1316908 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 2 PMID:25741868 8712066 Stard7 StAR related lipid transfer domain containing 7 gene DOID:1059 intellectual disability ISO RGD:1316908 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8712066 Stard7 StAR related lipid transfer domain containing 7 gene DOID:5419 schizophrenia ISO RGD:1316908 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8712078 Ccm2 CCM2 scaffold protein gene DOID:0060669 cerebral cavernous malformation ISO RGD:1317623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebral cavernous malformation PMID:25525273|PMID:25741868|PMID:28492532 8712078 Ccm2 CCM2 scaffold protein gene DOID:0060670 cerebral cavernous malformation 2 ISO RGD:1317623 D RGD:7240710 20180130 OMIM 8712078 Ccm2 CCM2 scaffold protein gene DOID:0060670 cerebral cavernous malformation 2 ISO RGD:1317623 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: CCM2-related condition | ClinVar Annotator: match by term: Cerebral cavernous malformation 2 PMID:14624391|PMID:14740320|PMID:15122722|PMID:16199547|PMID:17160895|PMID:17277691|PMID:17576681|PMID:18060436|PMID:18300272|PMID:19088123|PMID:19088124|PMID:19475721|PMID:20419355|PMID:23595507|PMID:24466005|PMID:2468908|PMID:24689081|PMID:25525273|PMID:25741868|PMID:26467025|PMID:27153162|PMID:27561926|PMID:27792856|PMID:28492532|PMID:28655553|PMID:29758562|PMID:30161288|PMID:31824402|PMID:31937560|PMID:32860008|PMID:34357553|PMID:35307828|PMID:9536098 8712078 Ccm2 CCM2 scaffold protein gene DOID:483 cavernous hemangioma ISO RGD:1317623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cavernous hemangioma PMID:25741868 8712078 Ccm2 CCM2 scaffold protein gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1317623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8712078 Ccm2 CCM2 scaffold protein gene DOID:630 genetic disease ISO RGD:1317623 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 8712078 Ccm2 CCM2 scaffold protein gene DOID:865 vasculitis ISO RGD:1317623 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Vasculitis PMID:25741868|PMID:28492532 8712078 Ccm2 CCM2 scaffold protein gene DOID:8725 vascular dementia ISO RGD:1317623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:28492532|PMID:33268848|PMID:35307828 8712078 Ccm2 CCM2 scaffold protein gene DOID:9003443 Central Nervous System Vascular Malformations susceptibility ISO RGD:1317623 D RGD:9068941 20200609 RGD DNA:deletions: ; Cerebral cavernous malformations, OMIM:603284 PMID:17160895|REF_RGD_ID:1600689 8712105 Ikbke inhibitor of nuclear factor kappa B kinase subunit epsilon gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1318072 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 8712105 Ikbke inhibitor of nuclear factor kappa B kinase subunit epsilon gene DOID:12849 autistic disorder ISO RGD:1318072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8712105 Ikbke inhibitor of nuclear factor kappa B kinase subunit epsilon gene DOID:1540 parathyroid carcinoma ISO RGD:1318072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8712105 Ikbke inhibitor of nuclear factor kappa B kinase subunit epsilon gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1318072 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8712105 Ikbke inhibitor of nuclear factor kappa B kinase subunit epsilon gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8712148 Tmem232 transmembrane protein 232 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:3029048 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8712148 Tmem232 transmembrane protein 232 gene DOID:12849 autistic disorder ISO RGD:3029048 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Autism 8712148 Tmem232 transmembrane protein 232 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:3029048 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8712148 Tmem232 transmembrane protein 232 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:3029048 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8712175 Cibar1 CBY1 interacting BAR domain containing 1 gene DOID:0060340 ciliopathy ISO RGD:1604747 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30395363 8712175 Cibar1 CBY1 interacting BAR domain containing 1 gene DOID:11193 syndactyly ISO RGD:1604747 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30395363 8712175 Cibar1 CBY1 interacting BAR domain containing 1 gene DOID:1148 polydactyly ISO RGD:1332560 D RGD:9068941 20220825 MouseDO OMIM:174200 | OMIM:174500 | OMIM:174700 | OMIM:603596 8712175 Cibar1 CBY1 interacting BAR domain containing 1 gene DOID:9002200 Postaxial Polydactyly, Type A9 ISO RGD:1604747 D RGD:7240710 20190315 OMIM 8712175 Cibar1 CBY1 interacting BAR domain containing 1 gene DOID:9002200 Postaxial Polydactyly, Type A9 ISO RGD:1604747 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Polydactyly, postaxial, type A9 PMID:25741868|PMID:30395363 8712175 Cibar1 CBY1 interacting BAR domain containing 1 gene DOID:9003488 Postaxial Polydactyly, Type A1 ISO RGD:1604747 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Postaxial polydactyly type A PMID:25741868|PMID:30395363 8712208 NSD2 nuclear receptor binding SET domain protein 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1317450 D RGD:9068941 20221117 RGD mRNA:increased expression:lung (human) PMID:34551195|REF_RGD_ID:155663369 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:0050460 Wolf-Hirschhorn syndrome ISO RGD:1317450 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Mental retardation, unusual facies, and intrauterine growth retardation | ClinVar Annotator: match by term: Wolf-Hirschhorn Syndrome PMID:11252005|PMID:25741868|PMID:28492532|PMID:29760529|PMID:29892088|PMID:30345613 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:0050888 syndromic intellectual disability ISO RGD:1317450 D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:0060058 lymphoma ISO RGD:1317450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphoma PMID:25741868 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:10907 microcephaly ISO RGD:1317450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:11514 fissured tongue ISO RGD:1317450 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Plicated tongue PMID:25741868 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:11836 clubfoot ISO RGD:1317450 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY PMID:25741868 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1317450 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:1588 thrombocytopenia ISO RGD:1317450 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:25741868 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:1657 ventricular septal defect ISO RGD:1317450 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ventricular septal defect PMID:25741868 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:1856 cherubism ISO RGD:1317450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:2355 anemia ISO RGD:1317450 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Anemia PMID:25741868 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1319911 D RGD:9068941 20230218 RGD PMID:34551195|REF_RGD_ID:155663369 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:630 genetic disease ISO RGD:1317450 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25188243|PMID:25741868|PMID:28492532 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:9001031 Retrognathia ISO RGD:1317450 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: retrognathism PMID:25741868 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:9001308 Wittwer Syndrome ISO RGD:1317450 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Wittwer syndrome PMID:11252005|PMID:25741868|PMID:28492532|PMID:29760529|PMID:29892088|PMID:30345613 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:9003104 Intracranial Hemorrhages ISO RGD:1317450 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intracranial Hemorrhages PMID:25741868 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:9004360 RAUCH-STEINDL SYNDROME ISO RGD:1317450 D RGD:7240710 20220330 OMIM 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:9004360 RAUCH-STEINDL SYNDROME ISO RGD:1317450 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: NSD2-related condition | ClinVar Annotator: match by term: Rauch-Steindl syndrome | ClinVar Annotator: match by term: Wolf-Hirschhorn like syndrome PMID:11252005|PMID:25741868|PMID:28492532|PMID:29758562|PMID:29760529|PMID:29892088|PMID:30345613|PMID:31382906|PMID:33276791|PMID:33941880|PMID:36189577|PMID:39825153 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317450 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:33941880 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:9005078 Congenital Macroglossia ISO RGD:1317450 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Giant tongue PMID:25741868 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:9005369 Hepatomegaly ISO RGD:1317450 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hepatomegaly PMID:25741868 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1317450 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24076604 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:9007817 Macroglossia ISO RGD:1317450 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Macroglossia PMID:25741868 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1317450 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24874954 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1317450 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24076604 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:9993 hypoglycemia ISO RGD:1317450 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypoglycemia PMID:25741868 8712239 Cd59 CD59 molecule (CD59 blood group) gene DOID:0080199 colorectal carcinoma ISO RGD:2311 D RGD:9068941 20200609 RGD PMID:12909127|REF_RGD_ID:1600485 8712239 Cd59 CD59 molecule (CD59 blood group) gene DOID:0080199 colorectal carcinoma ISO RGD:736600 D RGD:9068941 20200609 RGD PMID:12909127|REF_RGD_ID:1600485 8712239 Cd59 CD59 molecule (CD59 blood group) gene DOID:0080998 acute necrotizing pancreatitis severity ISO RGD:2311 D RGD:9068941 20200609 RGD protein:decreased expression:pancreas, acinar cell PMID:16425382|REF_RGD_ID:1600479 8712239 Cd59 CD59 molecule (CD59 blood group) gene DOID:1059 intellectual disability ISO RGD:736600 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8712239 Cd59 CD59 molecule (CD59 blood group) gene DOID:1380 endometrial cancer ISO RGD:736600 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:10637067|REF_RGD_ID:2293548 8712239 Cd59 CD59 molecule (CD59 blood group) gene DOID:1407 anterior uveitis ISO RGD:2311 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:eye PMID:16751365|REF_RGD_ID:1600478 8712239 Cd59 CD59 molecule (CD59 blood group) gene DOID:2394 ovarian cancer ISO RGD:736600 D RGD:9068941 20200609 RGD PMID:15726105|PMID:19254481|REF_RGD_ID:2306066|REF_RGD_ID:2326189 8712239 Cd59 CD59 molecule (CD59 blood group) gene DOID:2527 nephrosis ISO RGD:2311 D RGD:9068941 20200609 RGD PMID:15843577|REF_RGD_ID:1600482 8712239 Cd59 CD59 molecule (CD59 blood group) gene DOID:2921 glomerulonephritis ISO RGD:2311 D RGD:9068941 20200609 RGD PMID:7523753|REF_RGD_ID:1600500 8712239 Cd59 CD59 molecule (CD59 blood group) gene DOID:3459 breast carcinoma disease_progression ISO RGD:736600 D RGD:9068941 20200609 RGD PMID:12898600|REF_RGD_ID:2326192 8712239 Cd59 CD59 molecule (CD59 blood group) gene DOID:3498 pancreatic ductal adenocarcinoma disease_progression ISO RGD:736600 D RGD:9068941 20220303 RGD protein:increased expression:blood (human) PMID:32663515|REF_RGD_ID:151660329 8712239 Cd59 CD59 molecule (CD59 blood group) gene DOID:557 kidney disease ISO RGD:736600 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:31618666 8712239 Cd59 CD59 molecule (CD59 blood group) gene DOID:5844 myocardial infarction ISO RGD:2311 D RGD:9068941 20200609 RGD protein:decreased expression:myocardium PMID:7515561|REF_RGD_ID:1600501 8712239 Cd59 CD59 molecule (CD59 blood group) gene DOID:630 genetic disease ISO RGD:736600 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8712239 Cd59 CD59 molecule (CD59 blood group) gene DOID:8869 neuromyelitis optica severity ISO RGD:2311 D RGD:9068941 20200609 RGD PMID:28212662|REF_RGD_ID:13792592 8712239 Cd59 CD59 molecule (CD59 blood group) gene DOID:8947 diabetic retinopathy ISO RGD:2311 D RGD:9068941 20200609 RGD protein:decreased expression:retina PMID:12453906|REF_RGD_ID:1600487 8712239 Cd59 CD59 molecule (CD59 blood group) gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:2311 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:12483994|REF_RGD_ID:1600486 8712239 Cd59 CD59 molecule (CD59 blood group) gene DOID:9001643 CD59 Deficiency ISO RGD:736600 D RGD:7240710 20180130 OMIM 8712239 Cd59 CD59 molecule (CD59 blood group) gene DOID:9001643 CD59 Deficiency ISO RGD:736600 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: CD59-mediated hemolytic anemia with or without immune-mediated polyneuropathy | ClinVar Annotator: match by term: CD59-related condition PMID:1382994|PMID:23149847|PMID:24382084|PMID:25741868|PMID:28492532 8712239 Cd59 CD59 molecule (CD59 blood group) gene DOID:9002457 Experimental Arthritis ISO RGD:2311 D RGD:9068941 20200609 RGD PMID:14519760|REF_RGD_ID:1600483 8712239 Cd59 CD59 molecule (CD59 blood group) gene DOID:9004001 Facial Nerve Injuries ISO RGD:2311 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:facial VII nucleus PMID:9846834|REF_RGD_ID:1600495 8712239 Cd59 CD59 molecule (CD59 blood group) gene DOID:9004009 Reperfusion Injury ISO RGD:2311 D RGD:9068941 20200609 RGD PMID:10530491|REF_RGD_ID:1600493 8712239 Cd59 CD59 molecule (CD59 blood group) gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:2311 D RGD:9068941 20200609 RGD protein:increased expression:Schwann cell (rat) PMID:10450801|REF_RGD_ID:1600494 8712239 Cd59 CD59 molecule (CD59 blood group) gene DOID:9007472 Skin Manifestations ISO RGD:736600 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31618666 8712262 LOC102023128 cytochrome c oxidase assembly protein COX16 homolog, mitochondrial gene DOID:0070507 mitochondrial complex IV deficiency nuclear type 22 ISO RGD:1321882 D RGD:7240710 20210616 OMIM 8712262 LOC102023128 cytochrome c oxidase assembly protein COX16 homolog, mitochondrial gene DOID:0070507 mitochondrial complex IV deficiency nuclear type 22 ISO RGD:1321882 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Mitochondrial complex IV deficiency, nuclear type 22 PMID:33169484 8712275 Ehd3 EH domain containing 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1346639 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8712275 Ehd3 EH domain containing 3 gene DOID:9119 acute myeloid leukemia ISO RGD:1346639 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 8712285 LOC102023845 chromosome unknown open reading frame, human C14orf180 gene DOID:0061101 immunodeficiency 132A ISO RGD:1603812 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 PMID:28492532 8712285 LOC102023845 chromosome unknown open reading frame, human C14orf180 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1603812 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 8712285 LOC102023845 chromosome unknown open reading frame, human C14orf180 gene DOID:684 hepatocellular carcinoma ISO RGD:1603812 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8712309 Ccdc134 coiled-coil domain containing 134 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1605621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8712309 Ccdc134 coiled-coil domain containing 134 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1605621 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 8712309 Ccdc134 coiled-coil domain containing 134 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1605621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 8712309 Ccdc134 coiled-coil domain containing 134 gene DOID:0110339 osteogenesis imperfecta type 3 ISO RGD:1605621 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Severe progressive deforming recessive osteogenesis imperfecta (type III) PMID:25741868|PMID:32181939|PMID:34204301|PMID:35019224 8712309 Ccdc134 coiled-coil domain containing 134 gene DOID:9001928 osteogenesis imperfecta type 22 ISO RGD:1605621 D RGD:7240710 20220406 OMIM 8712309 Ccdc134 coiled-coil domain containing 134 gene DOID:9001928 osteogenesis imperfecta type 22 ISO RGD:1605621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta, type 22 | ClinVar Annotator: match by term: Osteogenesis imperfecta, type XXII PMID:25741868|PMID:32181939|PMID:34204301|PMID:35019224 8712309 Ccdc134 coiled-coil domain containing 134 gene DOID:9002589 Bone Fractures ISO RGD:1605621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Recurrent fractures PMID:25741868|PMID:32181939|PMID:34204301|PMID:35019224 8712309 Ccdc134 coiled-coil domain containing 134 gene DOID:9007188 Liver Neoplasms ISO RGD:1605621 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 8712326 Psmd1 proteasome 26S subunit, non-ATPase 1 gene DOID:0060476 Perlman syndrome ISO RGD:734088 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 8712326 Psmd1 proteasome 26S subunit, non-ATPase 1 gene DOID:0110991 Joubert syndrome 22 ISO RGD:734088 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 8712326 Psmd1 proteasome 26S subunit, non-ATPase 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:734088 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:29127258 8712354 Ece2 endothelin converting enzyme 2 gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:1349338 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 8712354 Ece2 endothelin converting enzyme 2 gene DOID:0080579 3-methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:1349338 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 8712354 Ece2 endothelin converting enzyme 2 gene DOID:0111546 Currarino syndrome ISO RGD:1349338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 8712395 Fam135a family with sequence similarity 135 member A gene DOID:0080198 infantile histiocytoid cardiomyopathy ISO RGD:1312650 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Foamy myocardial transformation of infancy 8712441 Kmt5a lysine methyltransferase 5A gene DOID:0080154 short chain acyl-CoA dehydrogenase deficiency ISO RGD:1602807 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase PMID:28492532 8712441 Kmt5a lysine methyltransferase 5A gene DOID:10283 prostate cancer ISO RGD:1602807 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8712491 Rabac1 Rab acceptor 1 gene DOID:0061010 craniosynostosis 1 ISO RGD:736141 D RGD:8554872 20241203 ClinVar ClinVar Annotator: match by term: TWIST1-related craniosynostosis PMID:28492532 8712491 Rabac1 Rab acceptor 1 gene DOID:0061099 Carpenter syndrome 2 ISO RGD:736141 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 8712491 Rabac1 Rab acceptor 1 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:736141 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 8712491 Rabac1 Rab acceptor 1 gene DOID:1342 congenital hypoplastic anemia ISO RGD:736141 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 8712491 Rabac1 Rab acceptor 1 gene DOID:2340 craniosynostosis ISO RGD:736141 D RGD:8554872 20241203 ClinVar ClinVar Annotator: match by term: Syndromic craniosynostosis 8712491 Rabac1 Rab acceptor 1 gene DOID:5419 schizophrenia ISO RGD:736141 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8712491 Rabac1 Rab acceptor 1 gene DOID:9269 maple syrup urine disease ISO RGD:736141 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:28492532 8712514 Fzd2 frizzled class receptor 2 gene DOID:0060765 autosomal dominant Robinow syndrome 2 ISO RGD:732091 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 2 PMID:24458798|PMID:25741868|PMID:25759469|PMID:28492532|PMID:29276006|PMID:30455931|PMID:35047859 8712514 Fzd2 frizzled class receptor 2 gene DOID:0060766 autosomal dominant Robinow syndrome 1 ISO RGD:732091 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 1 PMID:24458798|PMID:25741868|PMID:25759469|PMID:28492532|PMID:29276006|PMID:30455931|PMID:35047859 8712514 Fzd2 frizzled class receptor 2 gene DOID:0060767 autosomal dominant Robinow syndrome 3 ISO RGD:732091 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 3 PMID:25741868|PMID:29276006 8712514 Fzd2 frizzled class receptor 2 gene DOID:0080600 COVID-19 ISO RGD:732091 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8712514 Fzd2 frizzled class receptor 2 gene DOID:0080845 omodysplasia 2 ISO RGD:732091 D RGD:7240710 20190315 OMIM 8712514 Fzd2 frizzled class receptor 2 gene DOID:0080845 omodysplasia 2 ISO RGD:732091 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Autosomal dominant omodysplasia | ClinVar Annotator: match by term: FZD2-related condition PMID:24458798|PMID:25741868|PMID:25759469|PMID:28492532|PMID:29276006|PMID:30455931|PMID:35047859 8712514 Fzd2 frizzled class receptor 2 gene DOID:10126 keratoconus ISO RGD:732091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Keratoconus PMID:28492532 8712514 Fzd2 frizzled class receptor 2 gene DOID:127 leiomyoma ISO RGD:732091 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:myometrium PMID:12909487|REF_RGD_ID:2298700 8712514 Fzd2 frizzled class receptor 2 gene DOID:3459 breast carcinoma ISO RGD:732091 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:15492823|REF_RGD_ID:2298699 8712514 Fzd2 frizzled class receptor 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732091 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 PMID:38922859 8712514 Fzd2 frizzled class receptor 2 gene DOID:5844 myocardial infarction ISO RGD:71012 D RGD:9068941 20200609 RGD mRNA:increased expression:heart left ventricle PMID:9142123|REF_RGD_ID:4107058 8712514 Fzd2 frizzled class receptor 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:732091 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21188121 8712514 Fzd2 frizzled class receptor 2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:71012 D RGD:9068941 20200609 RGD mRNA:increased expression:heart left ventricle PMID:8762054|REF_RGD_ID:4107053 8712514 Fzd2 frizzled class receptor 2 gene DOID:9007661 Dwarfism ISO RGD:732091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short stature PMID:28492532 8712526 Clptm1l CLPTM1 like gene DOID:0050866 oral squamous cell carcinoma susceptibility ISO RGD:1605932 D RGD:9068941 20211217 RGD DNA:SNP: :rs402710(human) PMID:28025427|REF_RGD_ID:150530487 8712526 Clptm1l CLPTM1 like gene DOID:0050921 pharynx squamous cell carcinoma sexual_dimorphism ISO RGD:1605932 D RGD:9068941 20211224 RGD in males;DNA:SNP: :rs401681(human) PMID:31429604|REF_RGD_ID:150530637 8712526 Clptm1l CLPTM1 like gene DOID:0070016 autosomal dominant dyskeratosis congenita 2 ISO RGD:1605932 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 PMID:12629597|PMID:16247010|PMID:17460043|PMID:28492532 8712526 Clptm1l CLPTM1 like gene DOID:0070487 dopamine transporter deficiency syndrome ISO RGD:1605932 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile PMID:21112253|PMID:28492532 8712526 Clptm1l CLPTM1 like gene DOID:10283 prostate cancer ISO RGD:1605932 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8712526 Clptm1l CLPTM1 like gene DOID:1037 lymphoid leukemia ISO RGD:1605932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24292274 8712526 Clptm1l CLPTM1 like gene DOID:11054 urinary bladder cancer ISO RGD:1605932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19151717 8712526 Clptm1l CLPTM1 like gene DOID:1324 lung cancer ISO RGD:1550157 D RGD:9068941 20211217 RGD PMID:24366883|REF_RGD_ID:150530483 8712526 Clptm1l CLPTM1 like gene DOID:1324 lung cancer disease_progression ISO RGD:1605932 D RGD:9068941 20211224 RGD PMID:27062701|REF_RGD_ID:150537097 8712526 Clptm1l CLPTM1 like gene DOID:1324 lung cancer sexual_dimorphism ISO RGD:1605932 D RGD:9068941 20211224 RGD in males;DNA:SNP: :rs370348(human) PMID:21771723|REF_RGD_ID:150530643 8712526 Clptm1l CLPTM1 like gene DOID:1324 lung cancer susceptibility ISO RGD:1605932 D RGD:9068941 20211217 RGD DNA:SNPs:: rs402710,rs451360 (human) PMID:25526467|REF_RGD_ID:150530494 8712526 Clptm1l CLPTM1 like gene DOID:1324 lung cancer susceptibility ISO RGD:1605932 D RGD:9068941 20211217 RGD DNA:SNPs::multiple (human) PMID:26852039|REF_RGD_ID:150530484 8712526 Clptm1l CLPTM1 like gene DOID:1324 lung cancer susceptibility ISO RGD:1605932 D RGD:9068941 20211224 RGD DNA:SNP:intron:rs31489(human) PMID:25422207|REF_RGD_ID:150530631 8712526 Clptm1l CLPTM1 like gene DOID:1324 lung cancer susceptibility ISO RGD:1605932 D RGD:9068941 20211224 RGD associated with smoking; DNA:SNP:intron:rs31489(human) PMID:21622582|REF_RGD_ID:150530642 8712526 Clptm1l CLPTM1 like gene DOID:2513 basal cell carcinoma ISO RGD:1605932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19151717 8712526 Clptm1l CLPTM1 like gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1605932 D RGD:9068941 20211217 RGD mRNA:increased expression:esophagus PMID:25480402|REF_RGD_ID:150530497 8712526 Clptm1l CLPTM1 like gene DOID:3748 esophagus squamous cell carcinoma no_association ISO RGD:1605932 D RGD:9068941 20211224 RGD DNA:SNP: :rs401681(human) PMID:24386361|REF_RGD_ID:150537098 8712526 Clptm1l CLPTM1 like gene DOID:3748 esophagus squamous cell carcinoma susceptibility ISO RGD:1605932 D RGD:9068941 20211217 RGD DNA:SNP: :rs401681(human) PMID:25007268|REF_RGD_ID:150530488 8712526 Clptm1l CLPTM1 like gene DOID:3748 esophagus squamous cell carcinoma susceptibility ISO RGD:1605932 D RGD:9068941 20211217 RGD DNA:SNP: :rs451360(human) PMID:26716642|REF_RGD_ID:11572962 8712526 Clptm1l CLPTM1 like gene DOID:3907 lung squamous cell carcinoma ISO RGD:1605932 D RGD:9068941 20211217 RGD mRNA:increased expression:lung PMID:24366883|REF_RGD_ID:150530483 8712526 Clptm1l CLPTM1 like gene DOID:3907 lung squamous cell carcinoma no_association ISO RGD:1605932 D RGD:9068941 20211217 RGD DNA:SNP::rs401681(human) PMID:24861918|REF_RGD_ID:150530499 8712526 Clptm1l CLPTM1 like gene DOID:3907 lung squamous cell carcinoma susceptibility ISO RGD:1605932 D RGD:9068941 20211217 RGD DNA:SNP:: rs31490(human) PMID:23908149|REF_RGD_ID:150530498 8712526 Clptm1l CLPTM1 like gene DOID:3907 lung squamous cell carcinoma susceptibility ISO RGD:1605932 D RGD:9068941 20211224 RGD DNA:SNP: :rs401681(human) PMID:24386361|REF_RGD_ID:150537098 8712526 Clptm1l CLPTM1 like gene DOID:3908 lung non-small cell carcinoma ISO RGD:1605932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22675468 8712526 Clptm1l CLPTM1 like gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1605932 D RGD:9068941 20211224 RGD DNA:SNPs: :rs4975616,rs401681(human) PMID:24679952|REF_RGD_ID:150530644 8712526 Clptm1l CLPTM1 like gene DOID:3908 lung non-small cell carcinoma no_association ISO RGD:1605932 D RGD:9068941 20211217 RGD DNA:SNPs:: rs401681,rs4975616(human) PMID:24175795|REF_RGD_ID:150530500 8712526 Clptm1l CLPTM1 like gene DOID:3908 lung non-small cell carcinoma no_association ISO RGD:1605932 D RGD:9068941 20211224 RGD DNA:SNP: :rs31490(human) PMID:27982019|REF_RGD_ID:150530632 8712526 Clptm1l CLPTM1 like gene DOID:3910 lung adenocarcinoma ISO RGD:1605932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22675468 8712526 Clptm1l CLPTM1 like gene DOID:3910 lung adenocarcinoma ISO RGD:1605932 D RGD:9068941 20211217 RGD mRNA:increased expression:lung PMID:24366883|REF_RGD_ID:150530483 8712526 Clptm1l CLPTM1 like gene DOID:3910 lung adenocarcinoma ameliorates ISO RGD:1605932 D RGD:9068941 20211217 RGD PMID:24366883|REF_RGD_ID:150530483 8712526 Clptm1l CLPTM1 like gene DOID:3910 lung adenocarcinoma no_association ISO RGD:1605932 D RGD:9068941 20211217 RGD DNA:SNP::rs401681(human) PMID:24861918|REF_RGD_ID:150530499 8712526 Clptm1l CLPTM1 like gene DOID:3910 lung adenocarcinoma susceptibility ISO RGD:1605932 D RGD:9068941 20211217 RGD DNA:SNP:: rs31490(human) PMID:23908149|REF_RGD_ID:150530498 8712526 Clptm1l CLPTM1 like gene DOID:3910 lung adenocarcinoma susceptibility ISO RGD:1605932 D RGD:9068941 20211217 RGD DNA:SNP:: rs4975616(human) PMID:19955392|REF_RGD_ID:150530502 8712526 Clptm1l CLPTM1 like gene DOID:3910 lung adenocarcinoma susceptibility ISO RGD:1605932 D RGD:9068941 20211224 RGD DNA:SNP: :rs401681(human) PMID:23738012|PMID:24386361|REF_RGD_ID:150530485|REF_RGD_ID:150537098 8712526 Clptm1l CLPTM1 like gene DOID:3910 lung adenocarcinoma susceptibility ISO RGD:1605932 D RGD:9068941 20211224 RGD DNA:SNP::rs77518573(human) PMID:31935503|REF_RGD_ID:150530635 8712526 Clptm1l CLPTM1 like gene DOID:4948 gallbladder carcinoma susceptibility ISO RGD:1605932 D RGD:9068941 20211217 RGD DNA:SNP, haplotype: :rs401681(human) PMID:29450669|REF_RGD_ID:150530629 8712526 Clptm1l CLPTM1 like gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1605932 D RGD:9068941 20211224 RGD DNA:SNP: :rs401681(human) PMID:29042796|REF_RGD_ID:150537100 8712526 Clptm1l CLPTM1 like gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1605932 D RGD:9068941 20211217 RGD DNA:SNPs::rs401681(human) PMID:25339005|REF_RGD_ID:150530496 8712526 Clptm1l CLPTM1 like gene DOID:9000081 Lymphatic Metastasis ISO RGD:1605932 D RGD:9068941 20211217 RGD associated with esophagus squamous cell carcinoma; mRNA:increased expression:esophagus PMID:25480402|REF_RGD_ID:150530497 8712526 Clptm1l CLPTM1 like gene DOID:9002304 Prostatic Neoplasms ISO RGD:1605932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19151717 8712526 Clptm1l CLPTM1 like gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1605932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19151717 8712526 Clptm1l CLPTM1 like gene DOID:9005172 Lung Neoplasms ISO RGD:1605932 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:18978787|PMID:19151717|PMID:23433592|PMID:24366883 8712526 Clptm1l CLPTM1 like gene DOID:9007364 Mouth Neoplasms ISO RGD:1605932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27749845 8712526 Clptm1l CLPTM1 like gene DOID:9261 nasopharynx carcinoma ISO RGD:1605932 D RGD:9068941 20211217 RGD protein:increased expression:nasopharynx PMID:26621837|REF_RGD_ID:11564613 8712526 Clptm1l CLPTM1 like gene DOID:9261 nasopharynx carcinoma susceptibility ISO RGD:1605932 D RGD:9068941 20211217 RGD DNA:SNP: :rs401681(human) PMID:26621837|REF_RGD_ID:11564613 8712526 Clptm1l CLPTM1 like gene DOID:9261 nasopharynx carcinoma susceptibility ISO RGD:1605932 D RGD:9068941 20211224 RGD DNA:SNP:intron:rs31489(human) PMID:26545403|REF_RGD_ID:11556976 8712526 Clptm1l CLPTM1 like gene DOID:9261 nasopharynx carcinoma susceptibility ISO RGD:1605932 D RGD:9068941 20211224 RGD DNA:SNP:intron:rs31489(human) PMID:31270100|REF_RGD_ID:150537099 8712526 Clptm1l CLPTM1 like gene DOID:9675 pulmonary emphysema severity ISO RGD:1605932 D RGD:9068941 20211224 RGD associated with smoking; DNA:SNP:intron:rs31489(human) PMID:21622582|REF_RGD_ID:150530642 8712598 Lrrc7 leucine rich repeat containing 7 gene DOID:1059 intellectual disability ISO RGD:1349743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 8712598 Lrrc7 leucine rich repeat containing 7 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1349743 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 8712598 Lrrc7 leucine rich repeat containing 7 gene DOID:9975 cocaine dependence susceptibility ISO RGD:1349743 D RGD:9068941 20231102 RGD DNA:SNP: (rs1938584) (human) PMID:18438686|REF_RGD_ID:401851917 8712650 Hmox2 heme oxygenase 2 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:68991 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8712650 Hmox2 heme oxygenase 2 gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:68991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:28492532 8712650 Hmox2 heme oxygenase 2 gene DOID:10024 migraine with aura ISO RGD:68991 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:35115687 8712650 Hmox2 heme oxygenase 2 gene DOID:1826 epilepsy ISO RGD:68991 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8712650 Hmox2 heme oxygenase 2 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:68991 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17855048|PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 8712650 Hmox2 heme oxygenase 2 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:68991 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16459095 8712650 Hmox2 heme oxygenase 2 gene DOID:9009315 Idiopathic Generalized Epilepsy ISO RGD:68991 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8712674 LOC102012144 cytochrome b5 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:736806 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 8712674 LOC102012144 cytochrome b5 gene DOID:0112316 methemoglobinemia and ambiguous genitalia ISO RGD:736806 D RGD:7240710 20180130 OMIM 8712674 LOC102012144 cytochrome b5 gene DOID:0112316 methemoglobinemia and ambiguous genitalia ISO RGD:736806 D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: CYB5A-related condition | ClinVar Annotator: match by term: METHEMOGLOBINEMIA DUE TO DEFICIENCY OF CYTOCHROME b5 PMID:20080843|PMID:22170710|PMID:25741868|PMID:28492532|PMID:3951505|PMID:8262522 8712674 LOC102012144 cytochrome b5 gene DOID:10783 methemoglobinemia ISO RGD:736806 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.S127P (human) PMID:2107882|REF_RGD_ID:1599659 8712674 LOC102012144 cytochrome b5 gene DOID:11394 adult respiratory distress syndrome ISO RGD:736806 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 8712674 LOC102012144 cytochrome b5 gene DOID:11400 pyelonephritis ISO RGD:620558 D RGD:9068941 20200609 RGD PMID:9848217|REF_RGD_ID:1599663 8712674 LOC102012144 cytochrome b5 gene DOID:289 endometriosis ISO RGD:736806 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 8712674 LOC102012144 cytochrome b5 gene DOID:6420 pulmonary valve stenosis ISO RGD:736806 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 8712674 LOC102012144 cytochrome b5 gene DOID:8445 intestinal volvulus ISO RGD:736806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 8712674 LOC102012144 cytochrome b5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8712674 LOC102012144 cytochrome b5 gene DOID:9005309 Congenital Methemoglobinemia ISO RGD:736806 D RGD:9068941 20200609 RGD DNA:missense, nonsense mutations:splice junction,cds:multiple PMID:18343696|REF_RGD_ID:11352695 8712674 LOC102012144 cytochrome b5 gene DOID:9005309 Congenital Methemoglobinemia ISO RGD:736806 D RGD:9068941 20200609 RGD protein:decreased activity:erythrocyte membrane: PMID:7451647|REF_RGD_ID:11352693 8712674 LOC102012144 cytochrome b5 gene DOID:9008419 Volvulus Of Midgut ISO RGD:736806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 8712674 LOC102012144 cytochrome b5 gene DOID:9637 stomatitis ISO RGD:736806 D RGD:9068941 20200609 RGD PMID:10406239|REF_RGD_ID:11352692 8712674 LOC102012144 cytochrome b5 gene DOID:9970 obesity ISO RGD:736806 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 8712693 Exoc3l1 exocyst complex component 3 like 1 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1605832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8712693 Exoc3l1 exocyst complex component 3 like 1 gene DOID:9008870 Chromosome 16q12 Duplication Syndrome ISO RGD:1605832 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome PMID:25741868 8712714 Scube1 signal peptide, CUB domain and EGF like domain containing 1 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1319121 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 8712714 Scube1 signal peptide, CUB domain and EGF like domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1319121 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8712714 Scube1 signal peptide, CUB domain and EGF like domain containing 1 gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:1319121 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities PMID:30819258|PMID:31690835 8712742 CUNH1orf122 chromosome unknown C1orf122 homolog gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1606463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8712742 CUNH1orf122 chromosome unknown C1orf122 homolog gene DOID:9002926 Galloway-Mowat Syndrome 10 ISO RGD:1606463 D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: Galloway-Mowat syndrome 10 | ClinVar Annotator: match by term: YRDC-related condition PMID:28492532|PMID:31481669 8712749 Got1l1 glutamic-oxaloacetic transaminase 1 like 1 gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:1602185 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562 8712749 Got1l1 glutamic-oxaloacetic transaminase 1 like 1 gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:1602185 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532 8712749 Got1l1 glutamic-oxaloacetic transaminase 1 like 1 gene DOID:607 paraplegia ISO RGD:1602185 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 8712765 Cfap53 cilia and flagella associated protein 53 gene DOID:0050545 visceral heterotaxy ISO RGD:1344036 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Situs ambiguus PMID:25741868 8712765 Cfap53 cilia and flagella associated protein 53 gene DOID:0051020 visceral heterotaxy 6 ISO RGD:1344036 D RGD:7240710 20190315 OMIM 8712765 Cfap53 cilia and flagella associated protein 53 gene DOID:0051020 visceral heterotaxy 6 ISO RGD:1344036 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 6, autosomal PMID:16199547|PMID:17576681|PMID:22577226|PMID:25504577|PMID:25741868|PMID:26531781|PMID:28492532|PMID:9536098 8712765 Cfap53 cilia and flagella associated protein 53 gene DOID:1059 intellectual disability ISO RGD:1344036 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8712765 Cfap53 cilia and flagella associated protein 53 gene DOID:630 genetic disease ISO RGD:1344036 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8712765 Cfap53 cilia and flagella associated protein 53 gene DOID:758 visceral heterotaxy 5 ISO RGD:1344036 D RGD:8554872 20250204 ClinVar ClinVar Annotator: match by term: Laterality sequence PMID:25741868 8712765 Cfap53 cilia and flagella associated protein 53 gene DOID:9565 dextrocardia ISO RGD:1344036 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Dextrocardia PMID:25741868|PMID:26531781 8712765 Cfap53 cilia and flagella associated protein 53 gene DOID:9955 hypoplastic left heart syndrome ISO RGD:1344036 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoplastic left heart syndrome 8712782 Senp5 SUMO specific peptidase 5 gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:1312139 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 8712782 Senp5 SUMO specific peptidase 5 gene DOID:12849 autistic disorder ISO RGD:1312139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8712782 Senp5 SUMO specific peptidase 5 gene DOID:5419 schizophrenia ISO RGD:1312139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8712820 Papln papilin, proteoglycan like sulfated glycoprotein gene DOID:1059 intellectual disability ISO RGD:1322495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 8712852 Adat1 adenosine deaminase tRNA specific 1 gene DOID:0110989 Joubert syndrome 20 ISO RGD:1320789 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 20 PMID:23012439|PMID:23349226|PMID:28492532 8712852 Adat1 adenosine deaminase tRNA specific 1 gene DOID:10283 prostate cancer ISO RGD:1320789 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8712870 Fcrl1 Fc receptor like 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1602077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8712870 Fcrl1 Fc receptor like 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8712895 Pmfbp1 polyamine modulated factor 1 binding protein 1 gene DOID:0111922 spermatogenic failure 31 ISO RGD:1345041 D RGD:7240710 20190315 OMIM 8712895 Pmfbp1 polyamine modulated factor 1 binding protein 1 gene DOID:0111922 spermatogenic failure 31 ISO RGD:1345041 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PMFBP1-related condition | ClinVar Annotator: match by term: Spermatogenic failure 31 PMID:25741868|PMID:30032984|PMID:30298696 8712895 Pmfbp1 polyamine modulated factor 1 binding protein 1 gene DOID:12336 male infertility ISO RGD:732904 D RGD:9068941 20220825 MouseDO 8712895 Pmfbp1 polyamine modulated factor 1 binding protein 1 gene DOID:14228 oligospermia ISO RGD:1345041 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Oligospermia PMID:25741868|PMID:30032984|PMID:30298696 8712895 Pmfbp1 polyamine modulated factor 1 binding protein 1 gene DOID:9002321 Teratozoospermia ISO RGD:1345041 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Teratozoospermia PMID:25741868|PMID:30032984|PMID:30298696 8712920 Awat2 acyl-CoA wax alcohol acyltransferase 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1606441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8712920 Awat2 acyl-CoA wax alcohol acyltransferase 2 gene DOID:0111823 autosomal hemophilia A ISO RGD:1606441 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A PMID:31690835 8712920 Awat2 acyl-CoA wax alcohol acyltransferase 2 gene DOID:10140 dry eye syndrome ISO RGD:1558296 D RGD:9068941 20220825 MouseDO 8712920 Awat2 acyl-CoA wax alcohol acyltransferase 2 gene DOID:12134 factor VIII deficiency ISO RGD:1606441 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Factor 8 deficiency, congenital PMID:31690835 8712920 Awat2 acyl-CoA wax alcohol acyltransferase 2 gene DOID:12849 autistic disorder ISO RGD:1606441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8712939 Ssr3 signal sequence receptor subunit 3 gene DOID:2513 basal cell carcinoma ISO RGD:1349375 D RGD:9068941 20240606 CTD CTD Direct Evidence: marker/mechanism PMID:36428691 8712939 Ssr3 signal sequence receptor subunit 3 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1349375 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:30945312 8712953 Lipn lipase family member N gene DOID:0060717 autosomal recessive congenital ichthyosis 8 ISO RGD:1349924 D RGD:7240710 20180130 OMIM 8712953 Lipn lipase family member N gene DOID:0060717 autosomal recessive congenital ichthyosis 8 ISO RGD:1349924 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 8 | ClinVar Annotator: match by term: LIPN-related condition PMID:25741868|PMID:28492532 8712953 Lipn lipase family member N gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1349924 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:21926107|PMID:22382802|PMID:23132533|PMID:23335809|PMID:28492532|PMID:9286463|PMID:9467011 8712953 Lipn lipase family member N gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1349924 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant PMID:10875918|PMID:22237435|PMID:25741868|PMID:28492532 8712981 Ndufa11 NADH:ubiquinone oxidoreductase subunit A11 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1353803 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF PMID:28492532 8712981 Ndufa11 NADH:ubiquinone oxidoreductase subunit A11 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1353803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:25741868|PMID:28492532 8712981 Ndufa11 NADH:ubiquinone oxidoreductase subunit A11 gene DOID:0112094 nuclear type mitochondrial complex I deficiency 14 ISO RGD:1353803 D RGD:7240710 20190315 OMIM 8712981 Ndufa11 NADH:ubiquinone oxidoreductase subunit A11 gene DOID:0112094 nuclear type mitochondrial complex I deficiency 14 ISO RGD:1353803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14 | ClinVar Annotator: match by term: NDUFA11-related condition PMID:17576681|PMID:18306244|PMID:25741868|PMID:28492532|PMID:32712949|PMID:9536098 8712981 Ndufa11 NADH:ubiquinone oxidoreductase subunit A11 gene DOID:2033 communication disorder ISO RGD:1353803 D RGD:9068941 20231109 RGD DNA:SNP:CDS:multiple (human) PMID:35642741|REF_RGD_ID:401854249 8712989 Cnrip1 cannabinoid receptor interacting protein 1 gene DOID:0110582 autosomal dominant nonsyndromic deafness 58 ISO RGD:1318105 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 58 PMID:36553541 8712997 Ramp2 receptor activity modifying protein 2 gene DOID:10763 hypertension ISO RGD:61872 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:heart myocardium, aorta PMID:16450076|REF_RGD_ID:1625300 8712997 Ramp2 receptor activity modifying protein 2 gene DOID:10763 hypertension ISO RGD:735315 D RGD:9068941 20200609 RGD associated with Pregnancy Complications PMID:11600589|REF_RGD_ID:1642682 8712997 Ramp2 receptor activity modifying protein 2 gene DOID:10763 hypertension susceptibility ISO RGD:735315 D RGD:9068941 20200609 RGD DNA:SNP:intron PMID:15797661|REF_RGD_ID:1642679 8712997 Ramp2 receptor activity modifying protein 2 gene DOID:11394 adult respiratory distress syndrome ISO RGD:61872 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung PMID:17068622|REF_RGD_ID:1642683 8712997 Ramp2 receptor activity modifying protein 2 gene DOID:11394 adult respiratory distress syndrome ISO RGD:735315 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 8712997 Ramp2 receptor activity modifying protein 2 gene DOID:299 adenocarcinoma ISO RGD:735315 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17671114 8712997 Ramp2 receptor activity modifying protein 2 gene DOID:557 kidney disease ISO RGD:61872 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:10733909|REF_RGD_ID:61729 8712997 Ramp2 receptor activity modifying protein 2 gene DOID:6000 congestive heart failure ISO RGD:61872 D RGD:9068941 20200609 RGD associated with Hypertension PMID:12623952|REF_RGD_ID:704370 8712997 Ramp2 receptor activity modifying protein 2 gene DOID:6432 pulmonary hypertension ISO RGD:61872 D RGD:9068941 20200609 RGD mRNA:increased expression:heart right ventricle PMID:17437045|REF_RGD_ID:1642678 8712997 Ramp2 receptor activity modifying protein 2 gene DOID:672 spleen cancer ameliorates ISO RGD:62164 D RGD:9068941 20220609 RGD PMID:31754214|REF_RGD_ID:152985691 8712997 Ramp2 receptor activity modifying protein 2 gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:735315 D RGD:9068941 20220421 RGD associated with colorectal cancer; protein:increased expression:lymph node (human) PMID:23634287|REF_RGD_ID:151708733 8712997 Ramp2 receptor activity modifying protein 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:62164 D RGD:9068941 20220609 RGD PMID:31754214|REF_RGD_ID:152985691 8712997 Ramp2 receptor activity modifying protein 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:61872 D RGD:9068941 20200609 RGD PMID:16713642|REF_RGD_ID:1625319 8712997 Ramp2 receptor activity modifying protein 2 gene DOID:9003936 Cardiomegaly ISO RGD:61872 D RGD:9068941 20200609 RGD PMID:15680493|REF_RGD_ID:1642686 8712997 Ramp2 receptor activity modifying protein 2 gene DOID:9004657 Weight Gain ISO RGD:735315 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 8712997 Ramp2 receptor activity modifying protein 2 gene DOID:9005172 Lung Neoplasms ISO RGD:735315 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17671114 8712997 Ramp2 receptor activity modifying protein 2 gene DOID:9005587 Starvation ISO RGD:61872 D RGD:9068941 20200609 RGD PMID:17335899|REF_RGD_ID:1625307 8712997 Ramp2 receptor activity modifying protein 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:61872 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:14717924|REF_RGD_ID:1642701 8712997 Ramp2 receptor activity modifying protein 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:61872 D RGD:9068941 20200609 RGD mRNA:increased expression:ventricle myocardium PMID:16987513|REF_RGD_ID:1642684 8712997 Ramp2 receptor activity modifying protein 2 gene DOID:9256 colorectal cancer ISO RGD:735315 D RGD:9068941 20220609 RGD mRNA:increased expression:colorectum (human) PMID:21839130|REF_RGD_ID:152985531 8713005 Nmnat3 nicotinamide nucleotide adenylyltransferase 3 gene DOID:11612 polycystic ovary syndrome ISO RGD:1319314 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8713005 Nmnat3 nicotinamide nucleotide adenylyltransferase 3 gene DOID:1686 glaucoma treatment ISO RGD:1309140 D RGD:9068941 20200609 RGD PMID:24136224|REF_RGD_ID:13782046 8713054 Adss1 adenylosuccinate synthase 1 gene DOID:0061101 immunodeficiency 132A ISO RGD:1351020 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 PMID:28492532 8713054 Adss1 adenylosuccinate synthase 1 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1351020 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 8713054 Adss1 adenylosuccinate synthase 1 gene DOID:0111130 focal segmental glomerulosclerosis 5 ISO RGD:1351020 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 PMID:28492532 8713054 Adss1 adenylosuccinate synthase 1 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1351020 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:26506222|PMID:28492532|PMID:31680123 8713054 Adss1 adenylosuccinate synthase 1 gene DOID:1115 sarcoma ISO RGD:1590342 D RGD:9068941 20200609 RGD protein:decreased activity:tumor (rat) PMID:2560335|REF_RGD_ID:5143928 8713054 Adss1 adenylosuccinate synthase 1 gene DOID:630 genetic disease ISO RGD:1351020 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8713054 Adss1 adenylosuccinate synthase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1590342 D RGD:9068941 20200609 RGD protein:increased activity:heart (rat) PMID:3360219|REF_RGD_ID:1598762 8713054 Adss1 adenylosuccinate synthase 1 gene DOID:9006602 Distal Myopathy 5 ISO RGD:1351020 D RGD:7240710 20190315 OMIM 8713054 Adss1 adenylosuccinate synthase 1 gene DOID:9006602 Distal Myopathy 5 ISO RGD:1351020 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: ADSS1-related condition | ClinVar Annotator: match by term: Myopathy, distal, 5 PMID:16199547|PMID:25741868|PMID:26506222|PMID:27868399|PMID:28268051|PMID:28492532|PMID:31680123|PMID:32331917|PMID:32646962|PMID:39825153 8713073 Zbtb49 zinc finger and BTB domain containing 49 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1315520 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 8713097 CUNH19orf18 chromosome unknown C19orf18 homolog gene DOID:303 substance-related disorder ISO RGD:1342903 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 8713107 Toe1 target of EGR1, exonuclease gene DOID:0050424 familial adenomatous polyposis ISO RGD:1319240 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: MYH-associated polyposis PMID:25186627|PMID:25741868|PMID:26467025|PMID:27720647|PMID:28492532 8713107 Toe1 target of EGR1, exonuclease gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1319240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8713107 Toe1 target of EGR1, exonuclease gene DOID:0060264 pontocerebellar hypoplasia ISO RGD:1319240 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28092684 8713107 Toe1 target of EGR1, exonuclease gene DOID:0060276 pontocerebellar hypoplasia type 7 ISO RGD:1319240 D RGD:7240710 20190315 OMIM 8713107 Toe1 target of EGR1, exonuclease gene DOID:0060276 pontocerebellar hypoplasia type 7 ISO RGD:1319240 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 7 | ClinVar Annotator: match by term: TOE1-related condition PMID:17576681|PMID:18271935|PMID:21594990|PMID:25741868|PMID:28092684|PMID:28492532|PMID:9536098 8713107 Toe1 target of EGR1, exonuclease gene DOID:0080410 familial adenomatous polyposis 2 ISO RGD:1319240 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 2 | ClinVar Annotator: match by term: MUTYH-related attenuated familial adenomatous polyposis | ClinVar Annotator: match by term: MUTYH-related condition PMID:12056405|PMID:14618256|PMID:16199547|PMID:16408224|PMID:17576681|PMID:18271935|PMID:18534194|PMID:19725997|PMID:20663686|PMID:20725929|PMID:22473953|PMID:25186627|PMID:25741868|PMID:26467025|PMID:27720647|PMID:28492532|PMID:28644590|PMID:30716719|PMID:32821650|PMID:35988656|PMID:36988593|PMID:9536098 8713107 Toe1 target of EGR1, exonuclease gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1319240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8713107 Toe1 target of EGR1, exonuclease gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1319240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8713107 Toe1 target of EGR1, exonuclease gene DOID:10534 stomach cancer ISO RGD:1319240 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer PMID:14618256|PMID:22473953|PMID:25186627|PMID:25741868|PMID:26467025|PMID:27720647|PMID:28492532|PMID:36988593 8713107 Toe1 target of EGR1, exonuclease gene DOID:1520 colon carcinoma ISO RGD:1319240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:18271935|PMID:25741868|PMID:28492532 8713107 Toe1 target of EGR1, exonuclease gene DOID:630 genetic disease ISO RGD:1319240 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28092684|PMID:28492532 8713107 Toe1 target of EGR1, exonuclease gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:12056405|PMID:14618256|PMID:16408224|PMID:17576681|PMID:18271935|PMID:18534194|PMID:19725997|PMID:20663686|PMID:20725929|PMID:22473953|PMID:25186627|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098 8713107 Toe1 target of EGR1, exonuclease gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319240 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome PMID:12056405|PMID:14618256|PMID:16199547|PMID:16408224|PMID:17576681|PMID:18271935|PMID:18534194|PMID:19725997|PMID:20663686|PMID:20725929|PMID:22473953|PMID:25186627|PMID:25741868|PMID:26467025|PMID:27720647|PMID:28492532|PMID:28644590|PMID:36988593|PMID:9536098 8713107 Toe1 target of EGR1, exonuclease gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319240 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome PMID:12056405|PMID:14618256|PMID:16199547|PMID:16408224|PMID:17576681|PMID:18271935|PMID:18534194|PMID:19725997|PMID:20663686|PMID:20725929|PMID:22473953|PMID:25186627|PMID:25741868|PMID:26467025|PMID:27720647|PMID:28492532|PMID:28644590|PMID:30716719|PMID:32821650|PMID:35988656|PMID:36988593|PMID:9536098 8713124 Mbd6 methyl-CpG binding domain protein 6 gene DOID:0060041 autism spectrum disorder ISO RGD:1322301 D RGD:9068941 20200609 RGD DNA:missense mutations:cds: PMID:23055267|REF_RGD_ID:9590163 8713124 Mbd6 methyl-CpG binding domain protein 6 gene DOID:0110173 Charcot-Marie-Tooth disease axonal type 2U ISO RGD:1322301 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U PMID:28492532 8713124 Mbd6 methyl-CpG binding domain protein 6 gene DOID:0110251 cataract 15 multiple types ISO RGD:1322301 D RGD:8554872 20240716 ClinVar ClinVar Annotator: match by term: Cataract 15 multiple types PMID:28492532 8713124 Mbd6 methyl-CpG binding domain protein 6 gene DOID:607 paraplegia ISO RGD:1322301 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 8713124 Mbd6 methyl-CpG binding domain protein 6 gene DOID:6846 familial melanoma ISO RGD:1322301 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 8713124 Mbd6 methyl-CpG binding domain protein 6 gene DOID:9002394 INTERSTITIAL LUNG AND LIVER DISEASE ISO RGD:1322301 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Interstitial lung and liver disease PMID:28492532 8713164 Prss56 serine protease 56 gene DOID:0060476 Perlman syndrome ISO RGD:5128927 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 8713164 Prss56 serine protease 56 gene DOID:0060835 isolated microphthalmia 6 ISO RGD:5128927 D RGD:7240710 20180130 OMIM 8713164 Prss56 serine protease 56 gene DOID:0060835 isolated microphthalmia 6 ISO RGD:5128927 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 6 | ClinVar Annotator: match by term: MICROPHTHALMIA, POSTERIOR NONSYNDROMIC | ClinVar Annotator: match by term: PRSS56-related condition PMID:15823920|PMID:16199547|PMID:17576681|PMID:19526372|PMID:21397065|PMID:21532570|PMID:21670352|PMID:21850159|PMID:22908982|PMID:23127749|PMID:24033266|PMID:24227917|PMID:25587058|PMID:25741868|PMID:28492532|PMID:31266062|PMID:31992737|PMID:32052405|PMID:32830442|PMID:32996714|PMID:33203948|PMID:9536098 8713164 Prss56 serine protease 56 gene DOID:0080634 nanophthalmos ISO RGD:5128927 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nanophthalmos PMID:19526372|PMID:21397065|PMID:21532570|PMID:21670352|PMID:22908982|PMID:23127749|PMID:24033266|PMID:24227917|PMID:25741868|PMID:28492532|PMID:31266062|PMID:31992737 8713164 Prss56 serine protease 56 gene DOID:0110991 Joubert syndrome 22 ISO RGD:5128927 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 8713164 Prss56 serine protease 56 gene DOID:10629 microphthalmia ISO RGD:5128927 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21532570 8713164 Prss56 serine protease 56 gene DOID:11830 myopia ISO RGD:5128927 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23396134 8713164 Prss56 serine protease 56 gene DOID:13550 angle-closure glaucoma ISO RGD:5128927 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21532570 8713164 Prss56 serine protease 56 gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:5128927 D RGD:9068941 20220714 RGD mRNA:altered expression:liver (human) PMID:31687280|REF_RGD_ID:152998978 8713164 Prss56 serine protease 56 gene DOID:630 genetic disease ISO RGD:5128927 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8713164 Prss56 serine protease 56 gene DOID:9005962 Multiple Pterygium Syndrome, Lethal Type ISO RGD:5128927 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Lethal multiple pterygium syndrome PMID:28492532 8713181 Mafb MAF bZIP transcription factor B gene DOID:0061027 Duane retraction syndrome 1 ISO RGD:732545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Duane syndrome type 1 PMID:27181683 8713181 Mafb MAF bZIP transcription factor B gene DOID:0061029 Duane retraction syndrome 3 ISO RGD:732545 D RGD:7240710 20200304 OMIM 8713181 Mafb MAF bZIP transcription factor B gene DOID:0061029 Duane retraction syndrome 3 ISO RGD:732545 D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Duane retraction syndrome 3 | ClinVar Annotator: match by term: Duane retraction syndrome 3 with or without deafness PMID:20436469|PMID:24989131|PMID:25741868|PMID:27181683|PMID:28492532 8713181 Mafb MAF bZIP transcription factor B gene DOID:0080395 orofacial cleft 1 ISO RGD:732545 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Orofacial cleft 1 PMID:25741868 8713181 Mafb MAF bZIP transcription factor B gene DOID:0080600 COVID-19 ISO RGD:732545 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8713181 Mafb MAF bZIP transcription factor B gene DOID:0111534 multicentric carpotarsal osteolysis syndrome ISO RGD:732545 D RGD:7240710 20180130 OMIM 8713181 Mafb MAF bZIP transcription factor B gene DOID:0111534 multicentric carpotarsal osteolysis syndrome ISO RGD:732545 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: MAFB-related condition | ClinVar Annotator: match by term: Multicentric carpo-tarsal osteolysis with or without nephropathy PMID:20436469|PMID:22387013|PMID:24989131|PMID:25741868|PMID:28492532|PMID:29120020|PMID:29675035|PMID:30208859|PMID:34722426|PMID:35221875 8713181 Mafb MAF bZIP transcription factor B gene DOID:12557 Duane retraction syndrome ISO RGD:732545 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8713181 Mafb MAF bZIP transcription factor B gene DOID:12557 Duane retraction syndrome ISO RGD:732546 D RGD:9068941 20220825 MouseDO OMIM:126800 | OMIM:604356 8713181 Mafb MAF bZIP transcription factor B gene DOID:2234 focal epilepsy ISO RGD:732545 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8713181 Mafb MAF bZIP transcription factor B gene DOID:630 genetic disease ISO RGD:732545 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22387013|PMID:24989131|PMID:25741868|PMID:28492532 8713181 Mafb MAF bZIP transcription factor B gene DOID:9002008 BROWN SYNDROME ISO RGD:732545 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Brown syndrome PMID:25741868|PMID:39033378 8713181 Mafb MAF bZIP transcription factor B gene DOID:9296 cleft lip ISO RGD:732545 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20436469 8713191 Prex2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:1317307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral arteriovenous malformation PMID:25741868 8713191 Prex2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 gene DOID:10283 prostate cancer ISO RGD:1317307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8713191 Prex2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 gene DOID:2043 hepatitis B ISO RGD:1317307 D RGD:9068941 20220317 RGD associated with hepatocellular carcinoma;mRNA:increased expression:liver (human) PMID:25151370|REF_RGD_ID:151665185 8713191 Prex2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1317307 D RGD:9068941 20220317 RGD mRNA:increased expression:lung (human) PMID:32537022|REF_RGD_ID:151665184 8713191 Prex2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1317307 D RGD:9068941 20220317 RGD mRNA:increased expression:lung (human) PMID:31711559|REF_RGD_ID:151665187 8713191 Prex2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 gene DOID:4927 Klatskin's tumor sexual_dimorphism ISO RGD:1317307 D RGD:9068941 20220310 RGD DNA:substitutions, insertion/deletions: (human) PMID:33387086|REF_RGD_ID:126848756 8713191 Prex2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 gene DOID:4947 cholangiocarcinoma sexual_dimorphism ISO RGD:1317307 D RGD:9068941 20220317 RGD DNA:substitutions, insertion/deletions: (human) PMID:28000796|REF_RGD_ID:151665188 8713191 Prex2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1317307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lip and oral cavity carcinoma PMID:26614431 8713191 Prex2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1317307 D RGD:9068941 20220317 RGD mRNA:decreased expression:liver (human) PMID:28000796|REF_RGD_ID:151665188 8713191 Prex2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1317307 D RGD:9068941 20220324 RGD mRNA:increased expression:liver (human) PMID:31776854|REF_RGD_ID:151665343 8713191 Prex2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1317307 D RGD:9068941 20220317 RGD mRNA:increased expression:liver (human) PMID:25151370|REF_RGD_ID:151665185 8713191 Prex2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1317307 D RGD:9068941 20220317 RGD protein:increased expression:liver (human) PMID:28205209|REF_RGD_ID:151665186 8713235 Nckap1l NCK associated protein 1 like gene DOID:0112015 immunodeficiency 72 ISO RGD:1323803 D RGD:7240710 20200902 OMIM 8713235 Nckap1l NCK associated protein 1 like gene DOID:0112015 immunodeficiency 72 ISO RGD:1323803 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Immunodeficiency 72 with autoinflammation | ClinVar Annotator: match by term: NCKAP1L-related condition PMID:25741868|PMID:28492532|PMID:32646852|PMID:32647003|PMID:32766723|PMID:35753512 8713235 Nckap1l NCK associated protein 1 like gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1323803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8713287 Krt18 keratin 18 gene DOID:0060643 primary sclerosing cholangitis severity ISO RGD:735767 D RGD:9068941 20200609 RGD protein:increased degradation:serum (human) PMID:26195313|REF_RGD_ID:18337492 8713287 Krt18 keratin 18 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:619935 D RGD:9068941 20200609 RGD associated with Metabolic Syndrome; protein:increased expression:liver, serum (rat) PMID:29989845|REF_RGD_ID:26884460 8713287 Krt18 keratin 18 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:735767 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:30089409|REF_RGD_ID:18337482 8713287 Krt18 keratin 18 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease disease_progression ISO RGD:619935 D RGD:9068941 20200609 RGD protein:increased degradation:serum (rat) PMID:30149902|REF_RGD_ID:18337497 8713287 Krt18 keratin 18 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease disease_progression ISO RGD:735767 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:30839434|REF_RGD_ID:18337481 8713287 Krt18 keratin 18 gene DOID:0080547 metabolic dysfunction-associated steatohepatitis ISO RGD:1557581 D RGD:9068941 20220825 MouseDO 8713287 Krt18 keratin 18 gene DOID:0080547 metabolic dysfunction-associated steatohepatitis ISO RGD:735767 D RGD:9068941 20200609 RGD protein:increased degradation:serum (human) PMID:19333204|REF_RGD_ID:18337493 8713287 Krt18 keratin 18 gene DOID:0080547 metabolic dysfunction-associated steatohepatitis severity ISO RGD:619935 D RGD:9068941 20200609 RGD protein:altered degradation:liver, serum (rat) PMID:24071521|REF_RGD_ID:27226810 8713287 Krt18 keratin 18 gene DOID:0080547 metabolic dysfunction-associated steatohepatitis severity ISO RGD:735767 D RGD:9068941 20200609 RGD associated with morbid obesity;protein:increased degradation:plasma (human) PMID:18995215|REF_RGD_ID:18337495 8713287 Krt18 keratin 18 gene DOID:0080547 metabolic dysfunction-associated steatohepatitis severity ISO RGD:735767 D RGD:9068941 20200609 RGD protein:increased degradation:plasma (human) PMID:19585618|REF_RGD_ID:18337489 8713287 Krt18 keratin 18 gene DOID:0080547 metabolic dysfunction-associated steatohepatitis severity ISO RGD:735767 D RGD:9068941 20200609 RGD protein:increased degradation:serum (human) PMID:24630506|REF_RGD_ID:18337490 8713287 Krt18 keratin 18 gene DOID:0080547 metabolic dysfunction-associated steatohepatitis severity ISO RGD:735767 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:21993925|REF_RGD_ID:18337499 8713287 Krt18 keratin 18 gene DOID:12236 primary biliary cholangitis severity ISO RGD:735767 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:26110613|REF_RGD_ID:18337483 8713287 Krt18 keratin 18 gene DOID:3571 liver cancer severity ISO RGD:1557581 D RGD:9068941 20200609 RGD associated with fatty liver disease PMID:27689336|REF_RGD_ID:18337485 8713287 Krt18 keratin 18 gene DOID:409 liver disease severity ISO RGD:735767 D RGD:9068941 20200609 RGD protein:increased degradation:serum (human) PMID:17306787|REF_RGD_ID:18337488 8713287 Krt18 keratin 18 gene DOID:5082 liver cirrhosis ISO RGD:735767 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20538000 8713287 Krt18 keratin 18 gene DOID:5082 liver cirrhosis ISO RGD:735767 D RGD:9068941 20200609 RGD protein:H127L PMID:9011570|REF_RGD_ID:1624318 8713287 Krt18 keratin 18 gene DOID:5082 liver cirrhosis severity ISO RGD:735767 D RGD:9068941 20200609 RGD protein:increased expression: serum (human) PMID:29023872|REF_RGD_ID:18337484 8713287 Krt18 keratin 18 gene DOID:684 hepatocellular carcinoma ISO RGD:1557581 D RGD:9068941 20220825 MouseDO OMIM:114550 8713287 Krt18 keratin 18 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:619935 D RGD:9068941 20200609 RGD protein:increased expression:liver, plasma membrane (rat) PMID:21138630|REF_RGD_ID:27226809 8713287 Krt18 keratin 18 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735767 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15999547|PMID:17072980|PMID:18395095|PMID:25380136 8713287 Krt18 keratin 18 gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:735767 D RGD:9068941 20200609 RGD protein:increased degradation:serum (human) PMID:22404726|REF_RGD_ID:18337496 8713287 Krt18 keratin 18 gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:735767 D RGD:9068941 20200609 RGD protein:increased expression:liver, serum (human) PMID:23820504|REF_RGD_ID:18337500 8713287 Krt18 keratin 18 gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:735767 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:30839434|REF_RGD_ID:18337481 8713287 Krt18 keratin 18 gene DOID:9004017 Chronic Hepatitis C severity ISO RGD:735767 D RGD:9068941 20200609 RGD protein:increased degradation:serum (human) PMID:19333204|REF_RGD_ID:18337493 8713287 Krt18 keratin 18 gene DOID:9004590 Acute Liver Failure ISO RGD:735767 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20538000 8713287 Krt18 keratin 18 gene DOID:9004590 Acute Liver Failure ISO RGD:735767 D RGD:9068941 20200609 RGD protein:increased degradation:serum (human) PMID:17847110|REF_RGD_ID:18337491 8713287 Krt18 keratin 18 gene DOID:9005167 Cryptogenic Cirrhosis ISO RGD:735767 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cirrhosis, cryptogenic PMID:12724528|PMID:9011570 8713287 Krt18 keratin 18 gene DOID:9005749 Necrosis ISO RGD:735767 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19783637 8713287 Krt18 keratin 18 gene DOID:9006550 hepatosplenic schistosomiasis disease_progression ISO RGD:1557581 D RGD:9068941 20200609 RGD protein:increased expression:serum (mouse, human) PMID:21357724|REF_RGD_ID:21406434 8713287 Krt18 keratin 18 gene DOID:9006550 hepatosplenic schistosomiasis disease_progression ISO RGD:735767 D RGD:9068941 20200609 RGD protein:increased expression:serum (mouse, human) PMID:21357724|REF_RGD_ID:21406434 8713287 Krt18 keratin 18 gene DOID:9007188 Liver Neoplasms ISO RGD:735767 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19409407|PMID:19796649 8713287 Krt18 keratin 18 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1557581 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver (mouse) PMID:17340120|REF_RGD_ID:18337498 8713287 Krt18 keratin 18 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735767 D RGD:9068941 20240808 CTD CTD Direct Evidence: marker/mechanism PMID:19783637|PMID:33483742|PMID:38521541 8713287 Krt18 keratin 18 gene DOID:9007543 Familial Cirrhosis ISO RGD:735767 D RGD:7240710 20250226 OMIM 8713287 Krt18 keratin 18 gene DOID:9007543 Familial Cirrhosis ISO RGD:735767 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cirrhosis, familial | ClinVar Annotator: match by term: Cirrhosis, noncryptogenic, susceptibility to PMID:12724528|PMID:25741868|PMID:9011570 8713287 Krt18 keratin 18 gene DOID:9008163 Chronic Hepatitis B disease_progression ISO RGD:735767 D RGD:9068941 20200609 RGD protein:increased phosphorylation:liver (human) PMID:20334631|REF_RGD_ID:18337487 8713287 Krt18 keratin 18 gene DOID:9008163 Chronic Hepatitis B severity ISO RGD:735767 D RGD:9068941 20200609 RGD protein:increased degradation:serum (human) PMID:28579343|REF_RGD_ID:18337494 8713287 Krt18 keratin 18 gene DOID:9008691 Liver Injury susceptibility ISO RGD:735767 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.D238E, p.D397E (human) PMID:24463813|REF_RGD_ID:18337486 8713287 Krt18 keratin 18 gene DOID:9008939 Breast Neoplasms ISO RGD:735767 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20061804|PMID:25330770 8713303 Map3k15 mitogen-activated protein kinase kinase kinase 15 gene DOID:0060599 Nance-Horan syndrome ISO RGD:1345894 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Nance-Horan syndrome PMID:10679936|PMID:14564667|PMID:17256798|PMID:17304053|PMID:18076117|PMID:19414485|PMID:19780792|PMID:19888300|PMID:20591708|PMID:20882036|PMID:21770923|PMID:21914562|PMID:22473288|PMID:22872100|PMID:23184456|PMID:25315662|PMID:28492532|PMID:30945684|PMID:31916079|PMID:9837815 8713303 Map3k15 mitogen-activated protein kinase kinase kinase 15 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8713303 Map3k15 mitogen-activated protein kinase kinase kinase 15 gene DOID:0080467 developmental and epileptic encephalopathy 2 ISO RGD:1345894 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:10679936|PMID:14564667|PMID:17256798|PMID:17304053|PMID:18076117|PMID:19414485|PMID:19780792|PMID:19888300|PMID:20591708|PMID:20882036|PMID:21770923|PMID:21914562|PMID:22473288|PMID:22872100|PMID:23184456|PMID:25315662|PMID:28492532|PMID:30945684|PMID:31916079|PMID:9837815 8713303 Map3k15 mitogen-activated protein kinase kinase kinase 15 gene DOID:0111042 glycogen storage disease IXA ISO RGD:1345894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXa1 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 8713303 Map3k15 mitogen-activated protein kinase kinase kinase 15 gene DOID:12849 autistic disorder ISO RGD:1345894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8713303 Map3k15 mitogen-activated protein kinase kinase kinase 15 gene DOID:3649 pyruvate decarboxylase deficiency ISO RGD:1345894 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Ataxia, intermittent, with pyruvate dehydrogenase, or decarboxylase, deficiency PMID:25741868 8713303 Map3k15 mitogen-activated protein kinase kinase kinase 15 gene DOID:3783 Coffin-Lowry syndrome ISO RGD:1345894 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Coffin-Lowry syndrome PMID:10679936|PMID:14564667|PMID:17256798|PMID:17304053|PMID:18076117|PMID:19414485|PMID:19780792|PMID:19888300|PMID:20591708|PMID:20882036|PMID:21770923|PMID:21914562|PMID:22473288|PMID:22872100|PMID:23184456|PMID:25315662|PMID:28492532|PMID:30945684|PMID:31916079|PMID:9837815 8713303 Map3k15 mitogen-activated protein kinase kinase kinase 15 gene DOID:9000982 Pyruvate Dehydrogenase E1 Alpha Deficiency ISO RGD:1345894 D RGD:8554872 20240716 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency PMID:10679936|PMID:14564667|PMID:17256798|PMID:19414485|PMID:19780792|PMID:19888300|PMID:20591708|PMID:20882036|PMID:21770923|PMID:21914562|PMID:22473288|PMID:22872100|PMID:23184456|PMID:25741868|PMID:28492532|PMID:31916079|PMID:9837815 8713303 Map3k15 mitogen-activated protein kinase kinase kinase 15 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8713303 Map3k15 mitogen-activated protein kinase kinase kinase 15 gene DOID:9005926 Leigh Syndrome, X-Linked ISO RGD:1345894 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: X-linked Leigh syndrome PMID:25741868 8713347 Eef1akmt1 EEF1A lysine methyltransferase 1 gene DOID:0110253 cataract 14 multiple types ISO RGD:1606676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 14 multiple types PMID:28492532 8713347 Eef1akmt1 EEF1A lysine methyltransferase 1 gene DOID:0110475 autosomal recessive nonsyndromic deafness 1A ISO RGD:1606676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1A PMID:28492532 8713347 Eef1akmt1 EEF1A lysine methyltransferase 1 gene DOID:0110476 autosomal recessive nonsyndromic deafness 1B ISO RGD:1606676 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1b PMID:28492532 8713347 Eef1akmt1 EEF1A lysine methyltransferase 1 gene DOID:0110565 autosomal dominant nonsyndromic deafness 3B ISO RGD:1606676 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 3b PMID:28492532 8713347 Eef1akmt1 EEF1A lysine methyltransferase 1 gene DOID:14693 Clouston syndrome ISO RGD:1606676 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Clouston's hidrotic ectodermal dysplasia PMID:28492532 8713347 Eef1akmt1 EEF1A lysine methyltransferase 1 gene DOID:2121 ectodermal dysplasia ISO RGD:1606676 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia PMID:28492532 8713356 Unk unk zinc finger gene DOID:0050797 peroxisomal acyl-CoA oxidase deficiency ISO RGD:1319446 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: STRAIGHT-CHAIN ACYL-CoA OXIDASE DEFICIENCY PMID:28492532 8713405 Iqce IQ motif containing E gene DOID:0050581 brachydactyly ISO RGD:1350439 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Brachydactyly PMID:25741868|PMID:28488682|PMID:31549751|PMID:35599849 8713405 Iqce IQ motif containing E gene DOID:0111957 immunodeficiency 11A ISO RGD:1350439 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency PMID:23374270|PMID:23561803|PMID:26289640|PMID:28492532|PMID:32581362 8713405 Iqce IQ motif containing E gene DOID:11193 syndactyly ISO RGD:1350439 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Syndactyly PMID:25741868|PMID:28488682|PMID:31549751|PMID:35599849 8713405 Iqce IQ motif containing E gene DOID:630 genetic disease ISO RGD:1350439 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8713405 Iqce IQ motif containing E gene DOID:8466 retinal degeneration ISO RGD:1350439 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Retinal degeneration PMID:25741868|PMID:28488682|PMID:31549751|PMID:35599849 8713405 Iqce IQ motif containing E gene DOID:9003488 Postaxial Polydactyly, Type A1 ISO RGD:1350439 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Polydactyly, postaxial, type A1 PMID:25741868|PMID:28488682|PMID:31549751|PMID:35599849 8713405 Iqce IQ motif containing E gene DOID:9009200 Postaxial Polydactyly, Type A7 ISO RGD:1350439 D RGD:7240710 20190315 OMIM 8713405 Iqce IQ motif containing E gene DOID:9009200 Postaxial Polydactyly, Type A7 ISO RGD:1350439 D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: IQCE-related condition | ClinVar Annotator: match by term: Polydactyly, postaxial, type a7 PMID:25741868|PMID:28488682|PMID:28492532|PMID:31549751|PMID:35599849 8713447 Eif2b2 eukaryotic translation initiation factor 2B subunit beta gene DOID:0060868 leukoencephalopathy with vanishing white matter ISO RGD:731256 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter PMID:11704758|PMID:12707859|PMID:14566705|PMID:14993275|PMID:15054402|PMID:15060152|PMID:15136673|PMID:15776425|PMID:16199547|PMID:18263758|PMID:18519871|PMID:19625339|PMID:20301435|PMID:21307862|PMID:21484434|PMID:21560189|PMID:22128017|PMID:22430157|PMID:22729508|PMID:22992991|PMID:24033266|PMID:25031760|PMID:25741868|PMID:25761052|PMID:25843247|PMID:26740508|PMID:27159321|PMID:28041799|PMID:28492532|PMID:29632131|PMID:29700822|PMID:29706645|PMID:30266093|PMID:31438897|PMID:33432707|PMID:34745209|PMID:35897042|PMID:37267771|PMID:39825153 8713447 Eif2b2 eukaryotic translation initiation factor 2B subunit beta gene DOID:0070276 hereditary nonpolyposis colorectal cancer type 7 ISO RGD:731256 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 7 PMID:25741868 8713447 Eif2b2 eukaryotic translation initiation factor 2B subunit beta gene DOID:0070367 leukoencephalopathy with vanishing white matter 5 ISO RGD:731256 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Cree leukoencephalopathy PMID:11704758|PMID:12707859|PMID:15054402|PMID:15060152|PMID:15136673|PMID:15776425|PMID:20301435|PMID:21560189|PMID:22729508|PMID:25741868|PMID:28492532|PMID:31438897|PMID:39825153 8713447 Eif2b2 eukaryotic translation initiation factor 2B subunit beta gene DOID:0070373 leukoencephalopathy with vanishing white matter 2 ISO RGD:731256 D RGD:7240710 20230505 OMIM 8713447 Eif2b2 eukaryotic translation initiation factor 2B subunit beta gene DOID:0070373 leukoencephalopathy with vanishing white matter 2 ISO RGD:731256 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 2 PMID:11704758|PMID:12707859|PMID:14566705|PMID:14993275|PMID:15054402|PMID:15060152|PMID:15136673|PMID:15776425|PMID:16199547|PMID:18263758|PMID:18519871|PMID:19625339|PMID:20301435|PMID:21307862|PMID:21484434|PMID:21560189|PMID:22128017|PMID:22430157|PMID:22729508|PMID:22992991|PMID:24033266|PMID:25031760|PMID:25741868|PMID:25761052|PMID:25843247|PMID:27159321|PMID:28041799|PMID:28492532|PMID:29700822|PMID:29706645|PMID:30266093|PMID:31438897|PMID:33432707|PMID:34745209|PMID:35897042|PMID:37267771|PMID:39825153 8713447 Eif2b2 eukaryotic translation initiation factor 2B subunit beta gene DOID:0070374 leukoencephalopathy with vanishing white matter 1 ISO RGD:731256 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 1 PMID:11704758|PMID:12707859|PMID:15054402|PMID:15060152|PMID:15136673|PMID:15776425|PMID:20301435|PMID:21560189|PMID:22729508|PMID:25741868|PMID:28492532|PMID:31438897|PMID:39825153 8713447 Eif2b2 eukaryotic translation initiation factor 2B subunit beta gene DOID:1059 intellectual disability ISO RGD:731256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 8713447 Eif2b2 eukaryotic translation initiation factor 2B subunit beta gene DOID:10787 premature menopause ISO RGD:731256 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Premature menopause PMID:11704758|PMID:12707859|PMID:15054402|PMID:19625339|PMID:21560189|PMID:22992991|PMID:25741868|PMID:25761052|PMID:28492532|PMID:29706645|PMID:31438897|PMID:34745209 8713447 Eif2b2 eukaryotic translation initiation factor 2B subunit beta gene DOID:12347 osteogenesis imperfecta ISO RGD:731256 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:11704758|PMID:15054402|PMID:19625339|PMID:21560189|PMID:22992991|PMID:25741868|PMID:25761052|PMID:28492532|PMID:29706645|PMID:31438897|PMID:34745209 8713447 Eif2b2 eukaryotic translation initiation factor 2B subunit beta gene DOID:3883 Lynch syndrome ISO RGD:731256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:25741868 8713447 Eif2b2 eukaryotic translation initiation factor 2B subunit beta gene DOID:5426 primary ovarian insufficiency ISO RGD:731256 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:11704758|PMID:12707859|PMID:15054402|PMID:19625339|PMID:21560189|PMID:22992991|PMID:25741868|PMID:25761052|PMID:28492532|PMID:29706645|PMID:31438897|PMID:34745209 8713447 Eif2b2 eukaryotic translation initiation factor 2B subunit beta gene DOID:630 genetic disease ISO RGD:731256 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14566705|PMID:15776425|PMID:18263758|PMID:21560189|PMID:22128017|PMID:22430157|PMID:24033266|PMID:25741868|PMID:27159321|PMID:28492532|PMID:30266093|PMID:33432707 8713447 Eif2b2 eukaryotic translation initiation factor 2B subunit beta gene DOID:9002704 Leukoencephalopathies ISO RGD:731256 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: CACH/VWM syndrome PMID:11704758|PMID:12707859|PMID:14566705|PMID:14993275|PMID:15054402|PMID:15060152|PMID:15136673|PMID:15776425|PMID:18263758|PMID:20301435|PMID:21307862|PMID:21484434|PMID:21560189|PMID:22128017|PMID:22430157|PMID:22729508|PMID:22992991|PMID:24033266|PMID:25031760|PMID:25741868|PMID:25761052|PMID:25843247|PMID:26740508|PMID:27159321|PMID:28041799|PMID:28492532|PMID:29632131|PMID:29700822|PMID:29706645|PMID:30266093|PMID:31438897|PMID:33432707|PMID:34745209|PMID:35897042 8713447 Eif2b2 eukaryotic translation initiation factor 2B subunit beta gene DOID:9002704 Leukoencephalopathies ISO RGD:731256 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: CACH syndrome | ClinVar Annotator: match by term: CACH/VWM syndrome PMID:11704758|PMID:12707859|PMID:14566705|PMID:14993275|PMID:15054402|PMID:15060152|PMID:15136673|PMID:15776425|PMID:16199547|PMID:18263758|PMID:18519871|PMID:19625339|PMID:20301435|PMID:21307862|PMID:21484434|PMID:21560189|PMID:22128017|PMID:22430157|PMID:22729508|PMID:22992991|PMID:24033266|PMID:25031760|PMID:25741868|PMID:25761052|PMID:25843247|PMID:26740508|PMID:27159321|PMID:28041799|PMID:28492532|PMID:29632131|PMID:29700822|PMID:29706645|PMID:30266093|PMID:31438897|PMID:33432707|PMID:34745209|PMID:35897042|PMID:37267771|PMID:39825153 8713447 Eif2b2 eukaryotic translation initiation factor 2B subunit beta gene DOID:9006534 Nervous System Malformations ISO RGD:731256 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:21307862|PMID:21484434|PMID:25031760|PMID:25741868|PMID:25761052|PMID:25843247|PMID:28041799|PMID:28492532|PMID:29700822|PMID:31438897|PMID:33432707|PMID:34745209|PMID:35897042 8713459 Rab20 RAB20, member RAS oncogene family gene DOID:0080600 COVID-19 ISO RGD:1315116 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8713459 Rab20 RAB20, member RAS oncogene family gene DOID:2222 factor X deficiency ISO RGD:1315116 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 8713459 Rab20 RAB20, member RAS oncogene family gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1315116 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 8713466 Dmtf1 cyclin D binding myb like transcription factor 1 gene DOID:1826 epilepsy ISO RGD:736177 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25074461 8713466 Dmtf1 cyclin D binding myb like transcription factor 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736177 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8713491 Galnt5 polypeptide N-acetylgalactosaminyltransferase 5 gene DOID:0060041 autism spectrum disorder ISO RGD:737016 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 8713505 Gpr37 G protein-coupled receptor 37 gene DOID:12217 Lewy body dementia ISO RGD:735262 D RGD:9068941 20200609 RGD PMID:14991825|REF_RGD_ID:13504666 8713505 Gpr37 G protein-coupled receptor 37 gene DOID:14330 Parkinson's disease ISO RGD:735262 D RGD:9068941 20200609 RGD PMID:14991825|REF_RGD_ID:13504666 8713505 Gpr37 G protein-coupled receptor 37 gene DOID:1790 malignant mesothelioma ISO RGD:735262 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 8713505 Gpr37 G protein-coupled receptor 37 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:735262 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8713511 Greb1l GREB1 like retinoic acid receptor coactivator gene DOID:0050564 autosomal dominant nonsyndromic deafness ISO RGD:1351643 D RGD:8554872 20240820 ClinVar ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss PMID:25741868|PMID:32585897 8713511 Greb1l GREB1 like retinoic acid receptor coactivator gene DOID:0060232 branchiootic syndrome ISO RGD:1351643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inner ear malformation PMID:29955957 8713511 Greb1l GREB1 like retinoic acid receptor coactivator gene DOID:0060250 idiopathic scoliosis ISO RGD:1351643 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Scoliosis, isolated, susceptibility to, 1 PMID:25741868 8713511 Greb1l GREB1 like retinoic acid receptor coactivator gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:1351643 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C1 PMID:28492532 8713511 Greb1l GREB1 like retinoic acid receptor coactivator gene DOID:0070602 autosomal dominant nonsyndromic deafness 80 ISO RGD:1351643 D RGD:7240710 20210505 OMIM 8713511 Greb1l GREB1 like retinoic acid receptor coactivator gene DOID:0070602 autosomal dominant nonsyndromic deafness 80 ISO RGD:1351643 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 80 | ClinVar Annotator: match by term: Deafness, autosomal dominant 80 PMID:25741868|PMID:28492532|PMID:29100090|PMID:29955957|PMID:30311386|PMID:32378186|PMID:32585897 8713511 Greb1l GREB1 like retinoic acid receptor coactivator gene DOID:0080205 CAKUT ISO RGD:1351643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:25741868|PMID:29100090|PMID:30143558 8713511 Greb1l GREB1 like retinoic acid receptor coactivator gene DOID:0112177 Mayer-Rokitansky-Kuster-Hauser syndrome ISO RGD:1351643 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Mayer-Rokitansky-Kuster-Hauser syndrome PMID:25741868|PMID:28492532|PMID:29100090|PMID:32378186|PMID:32585897 8713511 Greb1l GREB1 like retinoic acid receptor coactivator gene DOID:0112178 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 ISO RGD:1351643 D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Mayer Rokitansky Kuster Hauser syndrome type 1 | ClinVar Annotator: match by term: Rokitansky sequence PMID:25741868|PMID:28492532 8713511 Greb1l GREB1 like retinoic acid receptor coactivator gene DOID:0112179 Mayer-Rokitansky-Kuster-Hauser syndrome type 2 ISO RGD:1351643 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Klippel-feil deformity, conductive deafness, and absent vagina PMID:25741868 8713511 Greb1l GREB1 like retinoic acid receptor coactivator gene DOID:0112338 spermatogenic failure 57 ISO RGD:1351643 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation PMID:25741868 8713511 Greb1l GREB1 like retinoic acid receptor coactivator gene DOID:1059 intellectual disability ISO RGD:1351643 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8713511 Greb1l GREB1 like retinoic acid receptor coactivator gene DOID:14766 renal agenesis ISO RGD:1351643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal agenesis PMID:25741868|PMID:35005812 8713511 Greb1l GREB1 like retinoic acid receptor coactivator gene DOID:9003763 Renal Hypodysplasia/Aplasia 1 ISO RGD:1351643 D RGD:8554872 20230516 ClinVar ClinVar Annotator: match by term: Renal agenesis and hypodysplasia PMID:28492532|PMID:29100090 8713511 Greb1l GREB1 like retinoic acid receptor coactivator gene DOID:9007661 Dwarfism ISO RGD:1351643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 8713511 Greb1l GREB1 like retinoic acid receptor coactivator gene DOID:9009100 Renal Hypodysplasia/Aplasia 3 ISO RGD:1351643 D RGD:7240710 20190315 OMIM 8713511 Greb1l GREB1 like retinoic acid receptor coactivator gene DOID:9009100 Renal Hypodysplasia/Aplasia 3 ISO RGD:1351643 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: GREB1L-related condition | ClinVar Annotator: match by term: Renal hypodysplasia/aplasia 3 PMID:25741868|PMID:28492532|PMID:28739660|PMID:29100090|PMID:29100091|PMID:30143558|PMID:31424080|PMID:32378186|PMID:32585897|PMID:32598191|PMID:33532864|PMID:33548512 8713550 GPX3 glutathione peroxidase 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1343858 D RGD:9068941 20200609 RGD PMID:18936159|REF_RGD_ID:2312632 8713550 Gpx3 glutathione peroxidase 3 gene DOID:0050731 vitamin B12 deficiency treatment ISO RGD:1343858 D RGD:9068941 20230930 RGD PMID:11115425|REF_RGD_ID:401827848 8713550 Gpx3 glutathione peroxidase 3 gene DOID:0050860 colorectal adenoma ISO RGD:1343858 D RGD:9068941 20220407 RGD mRNA:decreased expression:colorectum (human) PMID:30469315|REF_RGD_ID:151665806 8713550 Gpx3 glutathione peroxidase 3 gene DOID:0060901 lymphoplasmacytic lymphoma ISO RGD:1343858 D RGD:9068941 20230928 RGD protein:increased expression:bone marrow PMID:32763516|REF_RGD_ID:401827827 8713550 Gpx3 glutathione peroxidase 3 gene DOID:0080199 colorectal carcinoma ISO RGD:1343858 D RGD:9068941 20220407 RGD mRNA:decreased expression:colorectum (human) PMID:30469315|REF_RGD_ID:151665806 8713550 Gpx3 glutathione peroxidase 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1343858 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8713550 Gpx3 glutathione peroxidase 3 gene DOID:0080797 nasal type extranodal NK/T-cell lymphoma treatment ISO RGD:1343858 D RGD:9068941 20220414 RGD associated with ethmoid sinus cancer and Neoplasm Metastasis PMID:29496492|REF_RGD_ID:151708712 8713550 Gpx3 glutathione peroxidase 3 gene DOID:10534 stomach cancer ISO RGD:1343858 D RGD:9068941 20220324 RGD protein:decreased expression:stomach (human) PMID:20043075|REF_RGD_ID:151665486 8713550 Gpx3 glutathione peroxidase 3 gene DOID:10534 stomach cancer disease_progression ISO RGD:1343858 D RGD:9068941 20220324 RGD protein:decreased expression:stomach (human) PMID:22843889|REF_RGD_ID:151665483 8713550 Gpx3 glutathione peroxidase 3 gene DOID:10534 stomach cancer onset ISO RGD:1343858 D RGD:9068941 20220331 RGD DNA:hypermethylation PMID:30924352|REF_RGD_ID:151665514 8713550 Gpx3 glutathione peroxidase 3 gene DOID:10534 stomach cancer susceptibility ISO RGD:1343858 D RGD:9068941 20220324 RGD DNA:SNPs:intron 1,3'utr: (rs3805435, rs3828599, rs2070593) (human) PMID:20576521|REF_RGD_ID:151665489 8713550 Gpx3 glutathione peroxidase 3 gene DOID:10534 stomach cancer treatment ISO RGD:1343858 D RGD:9068941 20220331 RGD PMID:30114685|REF_RGD_ID:151665512 8713550 Gpx3 glutathione peroxidase 3 gene DOID:10590 mild pre-eclampsia ISO RGD:1343858 D RGD:9068941 20231005 RGD protein:increased expression:plasma PMID:8476834|REF_RGD_ID:401827852 8713550 Gpx3 glutathione peroxidase 3 gene DOID:10591 pre-eclampsia ISO RGD:1343858 D RGD:9068941 20230928 RGD protein:decreased expression:placenta PMID:20303587|PMID:28705740|REF_RGD_ID:401827170|REF_RGD_ID:401827825 8713550 Gpx3 glutathione peroxidase 3 gene DOID:10591 pre-eclampsia ISO RGD:1343858 D RGD:9068941 20230930 RGD mRNA:decreased expression:placenta PMID:18852388|REF_RGD_ID:401827849 8713550 Gpx3 glutathione peroxidase 3 gene DOID:1062 Fanconi syndrome ISO RGD:1343858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9851889 8713550 Gpx3 glutathione peroxidase 3 gene DOID:10763 hypertension ISO RGD:1343858 D RGD:9068941 20230923 RGD DNA:SNP: :rs3828599 (human) PMID:32034489|REF_RGD_ID:401827127 8713550 Gpx3 glutathione peroxidase 3 gene DOID:10763 hypertension susceptibility ISO RGD:1343858 D RGD:9068941 20230928 RGD DNA:SNP: : rs3828599 (human) PMID:21933611|REF_RGD_ID:401827166 8713550 Gpx3 glutathione peroxidase 3 gene DOID:10763 hypertension treatment ISO RGD:69224 D RGD:9068941 20230817 RGD PMID:23528973|REF_RGD_ID:401793732 8713550 Gpx3 glutathione peroxidase 3 gene DOID:11446 sciatic neuropathy treatment ISO RGD:69224 D RGD:9068941 20231005 RGD PMID:28508406|REF_RGD_ID:401827908 8713550 Gpx3 glutathione peroxidase 3 gene DOID:11612 polycystic ovary syndrome treatment ISO RGD:69224 D RGD:9068941 20231005 RGD PMID:35663203|REF_RGD_ID:401827905 8713550 Gpx3 glutathione peroxidase 3 gene DOID:1184 nephrotic syndrome ISO RGD:1343858 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:12824952|REF_RGD_ID:1625122 8713550 Gpx3 glutathione peroxidase 3 gene DOID:1184 nephrotic syndrome ISO RGD:1343858 D RGD:9068941 20231005 RGD mRNA:decreased expression:kidney PMID:20685819|REF_RGD_ID:7205671 8713550 Gpx3 glutathione peroxidase 3 gene DOID:1184 nephrotic syndrome ISO RGD:69224 D RGD:9068941 20231005 RGD mRNA:decreased expression:kidney PMID:20685819|REF_RGD_ID:7205671 8713550 Gpx3 glutathione peroxidase 3 gene DOID:11996 spermatic cord torsion treatment ISO RGD:69224 D RGD:9068941 20231005 RGD PMID:24440694|REF_RGD_ID:401827921 8713550 Gpx3 glutathione peroxidase 3 gene DOID:12336 male infertility treatment ISO RGD:69224 D RGD:9068941 20231005 RGD PMID:37260555|REF_RGD_ID:401827915 8713550 Gpx3 glutathione peroxidase 3 gene DOID:1287 cardiovascular system disease ISO RGD:1343858 D RGD:9068941 20230923 RGD associated with atrial fibrillation:protein:decreased expression:serum PMID:27609361|REF_RGD_ID:401827124 8713550 Gpx3 glutathione peroxidase 3 gene DOID:1287 cardiovascular system disease disease_progression ISO RGD:1343858 D RGD:9068941 20230930 RGD associated with Acute Coronary Syndrome;protein:increased expression:plasma PMID:18941641|REF_RGD_ID:401827840 8713550 Gpx3 glutathione peroxidase 3 gene DOID:1287 cardiovascular system disease severity ISO RGD:1343858 D RGD:9068941 20230928 RGD protein:decreased expression:serum PMID:22719980|REF_RGD_ID:401827822 8713550 Gpx3 glutathione peroxidase 3 gene DOID:1287 cardiovascular system disease susceptibility ISO RGD:1343858 D RGD:9068941 20230923 RGD DNA:SNP: :rs8177409 (human) PMID:24819036|REF_RGD_ID:401827122 8713550 Gpx3 glutathione peroxidase 3 gene DOID:1289 neurodegenerative disease ISO RGD:1343858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15964507 8713550 Gpx3 glutathione peroxidase 3 gene DOID:13129 severe pre-eclampsia ISO RGD:1343858 D RGD:9068941 20231005 RGD protein:increased expression:plasma PMID:8476834|REF_RGD_ID:401827852 8713550 Gpx3 glutathione peroxidase 3 gene DOID:1324 lung cancer treatment ISO RGD:1343858 D RGD:9068941 20220414 RGD PMID:26767034|PMID:33255360|REF_RGD_ID:151708705|REF_RGD_ID:151708707 8713550 Gpx3 glutathione peroxidase 3 gene DOID:14566 disease of cellular proliferation ISO RGD:1343858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21684681 8713550 Gpx3 glutathione peroxidase 3 gene DOID:1596 depressive disorder treatment ISO RGD:69224 D RGD:9068941 20231005 RGD PMID:33935736|REF_RGD_ID:401827871 8713550 Gpx3 glutathione peroxidase 3 gene DOID:1682 congenital heart disease ISO RGD:1352435,RGD:732257 D RGD:9068941 20230928 RGD DNA:SNP: :rs8177441 (human) PMID:26612412|REF_RGD_ID:11097065 8713550 Gpx3 glutathione peroxidase 3 gene DOID:1936 atherosclerosis treatment ISO RGD:69224 D RGD:9068941 20230928 RGD PMID:21300352|REF_RGD_ID:401827830 8713550 Gpx3 glutathione peroxidase 3 gene DOID:1993 rectum cancer susceptibility ISO RGD:1343858 D RGD:9068941 20220331 RGD DNA:SNPs: (rs3828599, rs736775, rs8177447) (human) PMID:22371331|REF_RGD_ID:151665750 8713550 Gpx3 glutathione peroxidase 3 gene DOID:219 colon cancer disease_progression ISO RGD:737382 D RGD:9068941 20220331 RGD associated with Experimental Colitis PMID:23221387|REF_RGD_ID:151665510 8713550 Gpx3 glutathione peroxidase 3 gene DOID:224 transient cerebral ischemia treatment ISO RGD:1343858 D RGD:9068941 20230928 RGD PMID:30098076|REF_RGD_ID:401827833 8713550 Gpx3 glutathione peroxidase 3 gene DOID:2316 brain ischemia ISO RGD:14121452 D RGD:9068941 20230928 RGD protein:increased expression:plasma PMID:30025402|REF_RGD_ID:401827828 8713550 Gpx3 glutathione peroxidase 3 gene DOID:2870 endometrial adenocarcinoma ISO RGD:69224 D RGD:9068941 20200609 RGD mRNA:decreased expression:endometrium (rat) PMID:19426485|REF_RGD_ID:2312621 8713550 Gpx3 glutathione peroxidase 3 gene DOID:289 endometriosis ISO RGD:1343858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642|PMID:21063030 8713550 Gpx3 glutathione peroxidase 3 gene DOID:299 adenocarcinoma ISO RGD:1343858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 8713550 Gpx3 glutathione peroxidase 3 gene DOID:3021 acute kidney failure ISO RGD:1343858 D RGD:9068941 20230923 RGD protein:decreased expression:kidney PMID:36583727|REF_RGD_ID:401827125 8713550 Gpx3 glutathione peroxidase 3 gene DOID:3393 coronary artery disease ISO RGD:1343858 D RGD:9068941 20230928 RGD mRNA:increased expression:epicardial fat PMID:21679057|REF_RGD_ID:401827169 8713550 Gpx3 glutathione peroxidase 3 gene DOID:3526 cerebral infarction ISO RGD:1343858 D RGD:9068941 20230923 RGD DNA, protein:SNP,decreased expression:promoter,plasma:-861A>T (human) PMID:25126700|REF_RGD_ID:401827128 8713550 Gpx3 glutathione peroxidase 3 gene DOID:3526 cerebral infarction ISO RGD:1343858 D RGD:9068941 20230928 RGD DNA:SNPs, haplotype:promoter:-942 A>C, -927 T>C, -861 A>T, -302 A>T, -284 T>A, -568 T>C, -518 T>C, -65 T>C (human) PMID:17122425|REF_RGD_ID:401827163 8713550 Gpx3 glutathione peroxidase 3 gene DOID:3526 cerebral infarction susceptibility ISO RGD:1343858 D RGD:9068941 20230928 RGD DNA:SNPs, haplotypes:promoter:rs8177412, rs870407, rs870406 (human) PMID:20946167|REF_RGD_ID:401827165 8713550 Gpx3 glutathione peroxidase 3 gene DOID:3565 meningioma severity ISO RGD:1343858 D RGD:9068941 20230928 RGD PMID:19885562|REF_RGD_ID:401827824 8713550 Gpx3 glutathione peroxidase 3 gene DOID:3572 intracranial sinus thrombosis no_association ISO RGD:1343858 D RGD:9068941 20230928 RGD DNA:SNPs, haplotypes:promoter:rs8177412, rs870407, rs870406 (human) PMID:20946167|REF_RGD_ID:401827165 8713550 Gpx3 glutathione peroxidase 3 gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:1343858 D RGD:9068941 20220331 RGD DNA:hypermethylation PMID:25050929|PMID:30018730|REF_RGD_ID:151665494|REF_RGD_ID:151665741 8713550 Gpx3 glutathione peroxidase 3 gene DOID:3905 lung carcinoma ISO RGD:737382 D RGD:9068941 20230928 RGD protein decreased expression:heart PMID:33693448|REF_RGD_ID:401827836 8713550 Gpx3 glutathione peroxidase 3 gene DOID:3910 lung adenocarcinoma ISO RGD:1343858 D RGD:9068941 20220414 RGD mRNA:decreased expression:lung (human) PMID:23374247|REF_RGD_ID:151708716 8713550 Gpx3 glutathione peroxidase 3 gene DOID:418 systemic scleroderma ISO RGD:1343858 D RGD:9068941 20230923 RGD protein:decreased expression:serum PMID:32630589|REF_RGD_ID:401827129 8713550 Gpx3 glutathione peroxidase 3 gene DOID:4914 esophagus adenocarcinoma susceptibility ISO RGD:1343858 D RGD:9068941 20220630 RGD DNA:SNPs:intron: (rs4958872, rs3792797) (human) PMID:22715394|REF_RGD_ID:152995500 8713550 Gpx3 glutathione peroxidase 3 gene DOID:4948 gallbladder carcinoma severity ISO RGD:1343858 D RGD:9068941 20220331 RGD protein:decreased expression:gallbladder (human) PMID:24167362|REF_RGD_ID:151665515 8713550 Gpx3 glutathione peroxidase 3 gene DOID:5041 esophageal cancer treatment ISO RGD:1343858 D RGD:9068941 20220407 RGD DNA:hypermethylation PMID:33292587|REF_RGD_ID:151665781 8713550 Gpx3 glutathione peroxidase 3 gene DOID:62 aortic valve disease ISO RGD:1343858 D RGD:9068941 20230928 RGD mRNA:decreased expression:aortic valve PMID:32674273|REF_RGD_ID:401827829 8713550 Gpx3 glutathione peroxidase 3 gene DOID:6713 cerebrovascular disease susceptibility ISO RGD:1343858 D RGD:9068941 20230928 RGD associated with Endotoxemia; protein:decreased expression:serum PMID:34869693|REF_RGD_ID:401827160 8713550 Gpx3 glutathione peroxidase 3 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1343858 D RGD:9068941 20220331 RGD DNA:hypermethylation PMID:25445749|REF_RGD_ID:151665509 8713550 Gpx3 glutathione peroxidase 3 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1343858 D RGD:9068941 20231005 RGD PMID:27570561|REF_RGD_ID:401827855 8713550 Gpx3 glutathione peroxidase 3 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1343858 D RGD:9068941 20220324 RGD mRNA,protein:decreased expression:liver, blood plasma (human) PMID:25333265|REF_RGD_ID:151665355 8713550 Gpx3 glutathione peroxidase 3 gene DOID:7693 abdominal aortic aneurysm treatment ISO RGD:737382 D RGD:9068941 20230928 RGD PMID:21530968|PMID:24337353|REF_RGD_ID:401827823|REF_RGD_ID:401827834 8713550 Gpx3 glutathione peroxidase 3 gene DOID:7941 Barrett's adenocarcinoma ISO RGD:1343858 D RGD:9068941 20220324 RGD DNA:hypermethylation PMID:16229808|REF_RGD_ID:151665354 8713550 Gpx3 glutathione peroxidase 3 gene DOID:7941 Barrett's adenocarcinoma ISO RGD:1343858 D RGD:9068941 20220630 RGD DNA:hypermethylation:promoter PMID:18664505|REF_RGD_ID:151665749 8713550 Gpx3 glutathione peroxidase 3 gene DOID:850 lung disease ISO RGD:69224 D RGD:9068941 20200609 RGD mRNA:decreased expression:pneumocyte (rat) PMID:16049373|REF_RGD_ID:2312626 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9000039 Spinal Cord Injuries ISO RGD:69224 D RGD:9068941 20231005 RGD protein:increased expression:cerebrospinal fluid PMID:21559420|REF_RGD_ID:40907059 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1343858 D RGD:9068941 20220324 RGD associated with stomach carcinoma; DNA:hypermethylation:promoter PMID:23071548|REF_RGD_ID:151665353 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9000111 Radiation Injuries treatment ISO RGD:69224 D RGD:9068941 20231005 RGD PMID:20105084|REF_RGD_ID:401827914 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:1343858 D RGD:9068941 20230930 RGD protein:increased expression:plasma PMID:32326289|REF_RGD_ID:401827845 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9001211 cerebral venous thrombosis ISO RGD:1343858 D RGD:9068941 20230928 RGD DNA:SNPs, haplotype:promoter:-942 A>C, -927 T>C, -861 A>T, -302 A>T, -284 T>A, -568 T>C, -518 T>C, -65 T>C (human) PMID:18096833|REF_RGD_ID:401827161 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9001211 cerebral venous thrombosis no_association ISO RGD:1343858 D RGD:9068941 20230928 RGD DNA:SNPs, haplotype:promoter:-942 A>C, -927 T>C, -861 A>T, -302 A>T, -284 T>A, -568 T>C, -518 T>C, -65 T>C (human) PMID:19095977|REF_RGD_ID:401827164 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9001650 Pregnancy-Induced Hypertension ISO RGD:1343858 D RGD:9068941 20231005 RGD protein:increased expression:plasma PMID:8244188|REF_RGD_ID:401827853 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1343858 D RGD:9068941 20230928 RGD mRNA, protein:increased expression:blood, plasma PMID:28298473|REF_RGD_ID:401827171 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1343858 D RGD:9068941 20230923 RGD associated with systemic scleroderma;protein:decreased expression:serum PMID:32630589|REF_RGD_ID:401827129 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1343858 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:serum (human) PMID:17269729|REF_RGD_ID:2312635 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:69224 D RGD:9068941 20231005 RGD associated with Experimental Diabetes Mellitus PMID:32592386|REF_RGD_ID:401827869 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1343858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17804715 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9002669 Hypoxia ISO RGD:69224 D RGD:9068941 20231005 RGD protein:increased expression:plasma PMID:24842778|REF_RGD_ID:401827909 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:69224 D RGD:9068941 20231005 RGD PMID:22320401|REF_RGD_ID:7175513 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9003139 Cardiac Fibrosis treatment ISO RGD:69224 D RGD:9068941 20230817 RGD PMID:23528973|REF_RGD_ID:401793732 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9003709 Mercury Poisoning ISO RGD:69224 D RGD:9068941 20231005 RGD protein:decreased activity:plasma PMID:25975991|REF_RGD_ID:401827854 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9003817 Sudden Hearing Loss ISO RGD:1343858 D RGD:9068941 20230923 RGD DNA:SNP: :rs3805435 (human) PMID:28738977|REF_RGD_ID:401827121 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9003936 Cardiomegaly treatment ISO RGD:69224 D RGD:9068941 20230817 RGD PMID:23528973|REF_RGD_ID:401793732 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9004786 Carbon Tetrachloride Poisoning treatment ISO RGD:69224 D RGD:9068941 20231007 RGD PMID:18306454|PMID:31018559|REF_RGD_ID:2312624|REF_RGD_ID:401827907 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9005172 Lung Neoplasms ISO RGD:1343858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19180532|PMID:21552421 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69224 D RGD:9068941 20200609 RGD protein, mRNA:decreased expression:kidney (rat) PMID:12753302|REF_RGD_ID:2312629 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:69224 D RGD:9068941 20231005 RGD PMID:23407453|PMID:32546886|REF_RGD_ID:401827857|REF_RGD_ID:401827917 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:737382 D RGD:9068941 20230923 RGD PMID:16651743|REF_RGD_ID:2312631 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9005775 Perinatal Asphyxia severity ISO RGD:1343858 D RGD:9068941 20230930 RGD protein:increased expression:plasma PMID:18279752|REF_RGD_ID:401827841 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:69224 D RGD:9068941 20230928 RGD protein:decreased expression:kidney PMID:37033969|REF_RGD_ID:401827821 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:69224 D RGD:9068941 20231005 RGD mRNA:decreased expression:kidney PMID:22442209|REF_RGD_ID:401827906 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9006302 Binge Drinking ISO RGD:69224 D RGD:9068941 20231005 RGD protein:decreased expression:serum PMID:25864381|REF_RGD_ID:401827870 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9006332 Vascular Calcification treatment ISO RGD:69224 D RGD:9068941 20231005 RGD associated with obesity PMID:24370590|REF_RGD_ID:401827910 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9006599 Hypertriglyceridemia ISO RGD:1343858 D RGD:9068941 20230928 RGD associated with coronary artery disease;DNA:SNP: :rs3828599 (human) PMID:31396447|REF_RGD_ID:401827159 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9006646 Metabolic Syndrome ISO RGD:1343858 D RGD:9068941 20230923 RGD protein:increased expression:serum PMID:24819036|REF_RGD_ID:401827122 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9006709 Primary Graft Dysfunction treatment ISO RGD:1343858 D RGD:9068941 20230923 RGD PMID:29290803|REF_RGD_ID:401827126 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9006778 Carotid Atherosclerosis ISO RGD:1343858 D RGD:9068941 20230923 RGD associated with type 2 diabetes mellitus PMID:32862561|REF_RGD_ID:401827123 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9006956 nephrotoxicity treatment ISO RGD:69224 D RGD:9068941 20231005 RGD PMID:22115772|PMID:23662110|PMID:27412471|REF_RGD_ID:401827919|REF_RGD_ID:401827924|REF_RGD_ID:401827925 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1343858 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9007096 Stroke ISO RGD:1343858 D RGD:9068941 20230928 RGD protein:decreased expression:plasma PMID:10446087|REF_RGD_ID:401827831 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9007188 Liver Neoplasms ISO RGD:1343858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20195826 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9007692 Insulin Resistance ISO RGD:1343858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19270708 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9007692 Insulin Resistance ISO RGD:69224 D RGD:9068941 20231005 RGD protein:increased expression:plasma PMID:24361363|REF_RGD_ID:401827920 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1343858 D RGD:9068941 20230930 RGD PMID:11043918|REF_RGD_ID:401827843 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9008652 Postoperative Atrial Fibrillation ISO RGD:1343858 D RGD:9068941 20230928 RGD associated with coronary artery disease;protein:increased expression:plasma PMID:32197906|REF_RGD_ID:401827167 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9206 Barrett's esophagus ISO RGD:1343858 D RGD:9068941 20220630 RGD DNA:hypermethylation:promoter PMID:18664505|REF_RGD_ID:151665749 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9351 diabetes mellitus ISO RGD:737382 D RGD:9068941 20200609 RGD PMID:18562625|REF_RGD_ID:2312633 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9351 diabetes mellitus ISO RGD:737382 D RGD:9068941 20200609 RGD mRNA:decreased expression:skeletal muscle (mouse) PMID:18936159|REF_RGD_ID:2312632 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:1343858 D RGD:9068941 20230930 RGD PMID:24102912|REF_RGD_ID:401827847 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9408 acute myocardial infarction ISO RGD:1343858 D RGD:9068941 20230928 RGD protein:increased expression:plasma PMID:28374671|REF_RGD_ID:401827832 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9538 multiple myeloma disease_progression ISO RGD:1343858 D RGD:9068941 20230928 RGD DNA:hypermethylation: : PMID:23699600|REF_RGD_ID:11073605 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1343858 D RGD:9068941 20200609 RGD protein:decreased activity:plasma (human) PMID:16489975|REF_RGD_ID:2312634 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9970 obesity ISO RGD:1343858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11328671|PMID:19270708 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9970 obesity ISO RGD:69224 D RGD:9068941 20200609 RGD mRNA:decreased expression:adipose tissue (rat) PMID:19212806|REF_RGD_ID:2307430 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9970 obesity ISO RGD:69224 D RGD:9068941 20231005 RGD mRNA:decreased expression:embryo, blastocyst PMID:21862610|REF_RGD_ID:5683906 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9970 obesity ISO RGD:69224 D RGD:9068941 20231005 RGD protein:decreased expression:plasma PMID:21535898|REF_RGD_ID:401827923 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9970 obesity ISO RGD:737382 D RGD:9068941 20200609 RGD protein:decreased expression, activity:plasma (mouse) PMID:18562625|REF_RGD_ID:2312633 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9970 obesity treatment ISO RGD:69224 D RGD:9068941 20231005 RGD PMID:31791316|REF_RGD_ID:401827913 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9993 hypoglycemia ISO RGD:737382 D RGD:9068941 20230923 RGD mRNA:increased expression:retina PMID:21738719|REF_RGD_ID:401827130 8713559 Ttc36 tetratricopeptide repeat domain 36 gene DOID:0060017 CD3epsilon deficiency ISO RGD:2293598 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8713559 Ttc36 tetratricopeptide repeat domain 36 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:2293598 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 8713559 Ttc36 tetratricopeptide repeat domain 36 gene DOID:0070614 chromosome 11 partial duplication syndrome ISO RGD:2293598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8713559 Ttc36 tetratricopeptide repeat domain 36 gene DOID:0080690 RASopathy ISO RGD:2293598 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8713559 Ttc36 tetratricopeptide repeat domain 36 gene DOID:0081330 glycogen storage disease Ib ISO RGD:2293598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 8713559 Ttc36 tetratricopeptide repeat domain 36 gene DOID:0110651 long QT syndrome 10 ISO RGD:2293598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 8713559 Ttc36 tetratricopeptide repeat domain 36 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:2293598 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8713559 Ttc36 tetratricopeptide repeat domain 36 gene DOID:0111971 immunodeficiency 18 ISO RGD:2293598 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8713559 Ttc36 tetratricopeptide repeat domain 36 gene DOID:0111972 immunodeficiency 19 ISO RGD:2293598 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8713559 Ttc36 tetratricopeptide repeat domain 36 gene DOID:0111973 immunodeficiency 17 ISO RGD:2293598 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8713559 Ttc36 tetratricopeptide repeat domain 36 gene DOID:684 hepatocellular carcinoma ISO RGD:2293598 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8713559 Ttc36 tetratricopeptide repeat domain 36 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2293598 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8713559 Ttc36 tetratricopeptide repeat domain 36 gene DOID:9004100 Familial Atrial Fibrillation 14 ISO RGD:2293598 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 PMID:28492532 8713559 Ttc36 tetratricopeptide repeat domain 36 gene DOID:9007661 Dwarfism ISO RGD:2293598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8713593 Cmas cytidine monophosphate N-acetylneuraminic acid synthetase gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1322089 D RGD:9068941 20220825 MouseDO 8713605 Ebna1bp2 EBNA1 binding protein 2 gene DOID:0070561 glucose transporter type 1 deficiency syndrome 1 ISO RGD:1313990 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: GLUT1 deficiency syndrome 1, autosomal recessive PMID:28492532 8713605 Ebna1bp2 EBNA1 binding protein 2 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1313990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8713648 Plk1 polo like kinase 1 gene DOID:0080600 COVID-19 ISO RGD:1353801 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8713648 Plk1 polo like kinase 1 gene DOID:0111866 trichothiodystrophy ISO RGD:1353801 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Trichothiodystrophy PMID:25741868 8713648 Plk1 polo like kinase 1 gene DOID:10286 prostate carcinoma ISO RGD:1353801 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:prostate gland PMID:15948124|REF_RGD_ID:2299939 8713648 Plk1 polo like kinase 1 gene DOID:11054 urinary bladder cancer ISO RGD:1353801 D RGD:9068941 20200609 RGD PMID:15761500|REF_RGD_ID:2299940 8713648 Plk1 polo like kinase 1 gene DOID:11054 urinary bladder cancer severity ISO RGD:1353801 D RGD:9068941 20200609 RGD PMID:16837776|REF_RGD_ID:2299938 8713648 Plk1 polo like kinase 1 gene DOID:1240 leukemia ISO RGD:1353801 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26008977 8713648 Plk1 polo like kinase 1 gene DOID:2152 ovary epithelial cancer disease_progression ISO RGD:1353801 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:14970859|REF_RGD_ID:2299941 8713648 Plk1 polo like kinase 1 gene DOID:289 endometriosis ISO RGD:1353801 D RGD:9068941 20200609 RGD mRNA, protein:increased expression PMID:18353325|REF_RGD_ID:2299937 8713648 Plk1 polo like kinase 1 gene DOID:3070 high grade glioma ISO RGD:1353801 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22000864 8713648 Plk1 polo like kinase 1 gene DOID:3459 breast carcinoma severity ISO RGD:1353801 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:15785925|REF_RGD_ID:2299942 8713648 Plk1 polo like kinase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1353801 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8713648 Plk1 polo like kinase 1 gene DOID:9007479 Habitual Abortions ISO RGD:1353801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Recurrent spontaneous abortion 8713648 Plk1 polo like kinase 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1353801 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:17200668|PMID:17200671|PMID:17200672|PMID:24136930|PMID:25099575|PMID:28492532 8713676 Apex2 apurinic/apyrimidinic endodeoxyribonuclease 2 gene DOID:0060063 sideroblastic anemia 1 ISO RGD:1350631 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anemia, sideroblastic, 1 8713676 Apex2 apurinic/apyrimidinic endodeoxyribonuclease 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350631 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8713676 Apex2 apurinic/apyrimidinic endodeoxyribonuclease 2 gene DOID:0080506 Cornelia de Lange syndrome 2 ISO RGD:1350631 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome PMID:26386245|PMID:27334371|PMID:28166369|PMID:28492532|PMID:28548707|PMID:31334757|PMID:31602316 8713676 Apex2 apurinic/apyrimidinic endodeoxyribonuclease 2 gene DOID:0111823 autosomal hemophilia A ISO RGD:1350631 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A PMID:31690835 8713676 Apex2 apurinic/apyrimidinic endodeoxyribonuclease 2 gene DOID:12134 factor VIII deficiency ISO RGD:1350631 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Factor 8 deficiency, congenital PMID:31690835 8713676 Apex2 apurinic/apyrimidinic endodeoxyribonuclease 2 gene DOID:12849 autistic disorder ISO RGD:1350631 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8713691 Mybl2 MYB proto-oncogene like 2 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1318264 D RGD:9068941 20220825 MouseDO OMIM:614286 8713691 Mybl2 MYB proto-oncogene like 2 gene DOID:0080600 COVID-19 ISO RGD:1318263 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8713691 Mybl2 MYB proto-oncogene like 2 gene DOID:2234 focal epilepsy ISO RGD:1318263 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8713691 Mybl2 MYB proto-oncogene like 2 gene DOID:5810 adenosine deaminase deficiency ISO RGD:1318263 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency PMID:26255240|PMID:26376800|PMID:28492532 8713691 Mybl2 MYB proto-oncogene like 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1318263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8713691 Mybl2 MYB proto-oncogene like 2 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1318263 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 8713691 Mybl2 MYB proto-oncogene like 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1318264 D RGD:9068941 20220825 MouseDO OMIM:601626 8713732 Calu calumenin gene DOID:0060224 atrial fibrillation ISO RGD:733017 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 8713732 Calu calumenin gene DOID:0080199 colorectal carcinoma ISO RGD:733017 D RGD:9068941 20200609 RGD mRNA:increased expression:colon (human) PMID:18776587|REF_RGD_ID:2316232 8713732 Calu calumenin gene DOID:0110304 autosomal dominant limb-girdle muscular dystrophy type 2 ISO RGD:733017 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1F PMID:28492532 8713732 Calu calumenin gene DOID:11661 blue color blindness ISO RGD:733017 D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: OPN1SW-related condition PMID:25741868|PMID:28492532 8713732 Calu calumenin gene DOID:13207 proliferative diabetic retinopathy ISO RGD:733017 D RGD:9068941 20231102 RGD mRNA:increased expression:retina (human) PMID:35692390|REF_RGD_ID:401851065 8713732 Calu calumenin gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:733017 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8713732 Calu calumenin gene DOID:9004575 Neoplasm Invasiveness ISO RGD:733017 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15048980 8713732 Calu calumenin gene DOID:9008582 Developmental Disease ISO RGD:733017 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8713747 Clptm1 CLPTM1 regulator of GABA type A receptor forward trafficking gene DOID:1793 pancreatic cancer ISO RGD:1322154 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26098869 8713765 Nt5dc1 5'-nucleotidase domain containing 1 gene DOID:0060163 body dysmorphic disorder ISO RGD:1313107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 8713765 Nt5dc1 5'-nucleotidase domain containing 1 gene DOID:0080021 Schmid metaphyseal chondrodysplasia ISO RGD:1313107 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: COL10A1-related condition | ClinVar Annotator: match by term: SPONDYLOMETAPHYSEAL DYSPLASIA, JAPANESE TYPE PMID:10721676|PMID:10991694|PMID:11805116|PMID:12554676|PMID:12584438|PMID:15695517|PMID:15880705|PMID:16088909|PMID:17403716|PMID:20872587|PMID:21447328|PMID:25741868|PMID:28492532|PMID:29234170|PMID:30202406|PMID:30408610|PMID:31633898|PMID:31921940|PMID:33764685|PMID:34423584|PMID:36400164|PMID:7607655|PMID:7749409|PMID:7936797|PMID:8004099|PMID:8012364|PMID:8220429|PMID:8304336|PMID:8554571|PMID:8782043|PMID:8986632|PMID:9067753|PMID:9525992|PMID:9708440|PMID:9837818|PMID:9852679|PMID:9920912 8713765 Nt5dc1 5'-nucleotidase domain containing 1 gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1313107 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 8713765 Nt5dc1 5'-nucleotidase domain containing 1 gene DOID:1909 melanoma ISO RGD:1313107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 8713765 Nt5dc1 5'-nucleotidase domain containing 1 gene DOID:630 genetic disease ISO RGD:1313107 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:29675035 8713765 Nt5dc1 5'-nucleotidase domain containing 1 gene DOID:9000073 Metaphyseal Chondrodysplasia ISO RGD:1313107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Metaphyseal chondrodysplasia PMID:25741868|PMID:28492532 8713781 Irx3 iroquois homeobox 3 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1316613 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:17558409|PMID:28492532 8713781 Irx3 iroquois homeobox 3 gene DOID:850 lung disease ISO RGD:1316613 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21238641 8713781 Irx3 iroquois homeobox 3 gene DOID:9008870 Chromosome 16q12 Duplication Syndrome ISO RGD:1316613 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome PMID:25741868 8713802 Prdx1 peroxiredoxin 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:733744 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8713802 Prdx1 peroxiredoxin 1 gene DOID:0050715 methylmalonic aciduria and homocystinuria type cblC ISO RGD:733744 D RGD:7240710 20190315 OMIM 8713802 Prdx1 peroxiredoxin 1 gene DOID:0050715 methylmalonic aciduria and homocystinuria type cblC ISO RGD:733744 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria, Vitamin B12-responsive | ClinVar Annotator: match by term: PRDX1-related condition | ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC PMID:16311595|PMID:17576681|PMID:20631720|PMID:23954310|PMID:25388550|PMID:25741868|PMID:25772322|PMID:27383490|PMID:28327205|PMID:28492532|PMID:29302025|PMID:32099815|PMID:34215320|PMID:35190856|PMID:9536098 8713802 Prdx1 peroxiredoxin 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:733744 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15986332 8713802 Prdx1 peroxiredoxin 1 gene DOID:0080600 COVID-19 ISO RGD:733744 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8713802 Prdx1 peroxiredoxin 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:733744 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8713802 Prdx1 peroxiredoxin 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:733744 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8713802 Prdx1 peroxiredoxin 1 gene DOID:10320 asbestosis ISO RGD:733744 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22537621 8713802 Prdx1 peroxiredoxin 1 gene DOID:1395 schistosomiasis ISO RGD:733744 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19041905 8713802 Prdx1 peroxiredoxin 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:733744 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 8713802 Prdx1 peroxiredoxin 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:733744 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17094902 8713802 Prdx1 peroxiredoxin 1 gene DOID:630 genetic disease ISO RGD:733744 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8713802 Prdx1 peroxiredoxin 1 gene DOID:684 hepatocellular carcinoma ISO RGD:733744 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27517622 8713802 Prdx1 peroxiredoxin 1 gene DOID:9000058 Keloid ISO RGD:733744 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 8713802 Prdx1 peroxiredoxin 1 gene DOID:9000117 Esophageal Neoplasms ISO RGD:733744 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15986332 8713802 Prdx1 peroxiredoxin 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:733744 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27517622 8713802 Prdx1 peroxiredoxin 1 gene DOID:9005172 Lung Neoplasms ISO RGD:733744 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22537621 8713810 Dcx doublecortin gene DOID:0050453 lissencephaly ISO RGD:1348637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lissencephaly PMID:10369164|PMID:11175293|PMID:18414213|PMID:23365099|PMID:25741868|PMID:28492532|PMID:29671837 8713810 Dcx doublecortin gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8713810 Dcx doublecortin gene DOID:0080470 developmental and epileptic encephalopathy 36 ISO RGD:1348637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 36 PMID:28492532 8713810 Dcx doublecortin gene DOID:0111169 subcortical band heterotopia ISO RGD:1348637 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Subcortical band heterotopia PMID:10915612|PMID:25140959|PMID:25741868|PMID:28953922 8713810 Dcx doublecortin gene DOID:0111823 autosomal hemophilia A ISO RGD:1348637 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A PMID:31690835 8713810 Dcx doublecortin gene DOID:0112237 lissencephaly 1 ISO RGD:1348637 D RGD:8554872 20230905 ClinVar ClinVar Annotator: match by term: Subcortical band heterotopia PMID:10915612|PMID:25140959|PMID:25741868|PMID:28953922 8713810 Dcx doublecortin gene DOID:0112239 X-linked lissencephaly 1 ISO RGD:1348637 D RGD:7240710 20210331 OMIM 8713810 Dcx doublecortin gene DOID:0112239 X-linked lissencephaly 1 ISO RGD:1348637 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: DCX-related condition | ClinVar Annotator: match by term: Lissencephaly type 1 due to doublecortin gene mutation PMID:10369164|PMID:10749977|PMID:11071144|PMID:11175293|PMID:11331616|PMID:11468322|PMID:12552055|PMID:12838518|PMID:14550532|PMID:17111359|PMID:18414213|PMID:18685874|PMID:19416314|PMID:22857951|PMID:23365099|PMID:25326635|PMID:25741868|PMID:25817838|PMID:25868952|PMID:28492532|PMID:28953922|PMID:29671837|PMID:29706646|PMID:30979500|PMID:31069529|PMID:32238909|PMID:32570172|PMID:34145886|PMID:35213059|PMID:36801247|PMID:9489699|PMID:9489700|PMID:9618162|PMID:9989615 8713810 Dcx doublecortin gene DOID:12134 factor VIII deficiency ISO RGD:1348637 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Factor 8 deficiency, congenital PMID:31690835 8713810 Dcx doublecortin gene DOID:12849 autistic disorder ISO RGD:1348637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8713810 Dcx doublecortin gene DOID:14500 fucosidosis ISO RGD:1348637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fucosidosis PMID:25741868 8713810 Dcx doublecortin gene DOID:1459 hypothyroidism ISO RGD:620670 D RGD:9068941 20200609 RGD protein:altered expression:cerebellum PMID:22595232|REF_RGD_ID:12904757 8713810 Dcx doublecortin gene DOID:1574 alcohol use disorder ISO RGD:620670 D RGD:9068941 20231221 RGD mRNA:decreased expression:hippocampus (rat) PMID:30277635|REF_RGD_ID:401938665 8713810 Dcx doublecortin gene DOID:1826 epilepsy ISO RGD:1348637 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Seizure PMID:17111359|PMID:18414213|PMID:25326635|PMID:25741868 8713810 Dcx doublecortin gene DOID:1826 epilepsy onset ISO RGD:620670 D RGD:9068941 20241114 RGD associated with Subcortical Band Heterotopia, X-Linked PMID:20164125|REF_RGD_ID:12904732 8713810 Dcx doublecortin gene DOID:3070 high grade glioma ISO RGD:731627 D RGD:9068941 20200609 RGD PMID:17178868|REF_RGD_ID:12904748 8713810 Dcx doublecortin gene DOID:3070 high grade glioma disease_progression ISO RGD:1348637 D RGD:9068941 20200609 RGD PMID:21477071|REF_RGD_ID:12904761 8713810 Dcx doublecortin gene DOID:3070 high grade glioma treatment ISO RGD:731627 D RGD:9068941 20200609 RGD PMID:19681167|REF_RGD_ID:12904754 8713810 Dcx doublecortin gene DOID:3328 temporal lobe epilepsy ISO RGD:1348637 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:20888264|REF_RGD_ID:12904713 8713810 Dcx doublecortin gene DOID:3454 brain infarction ISO RGD:620670 D RGD:9068941 20221027 RGD protein:altered expression:brain (rat) PMID:12161747|REF_RGD_ID:155630606 8713810 Dcx doublecortin gene DOID:5419 schizophrenia ISO RGD:1348637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8713810 Dcx doublecortin gene DOID:630 genetic disease ISO RGD:1348637 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10369164|PMID:11071144|PMID:11175293|PMID:11468322|PMID:12552055|PMID:14550532|PMID:18414213|PMID:18685874|PMID:19416314|PMID:23365099|PMID:25741868|PMID:25868952|PMID:26467025|PMID:28492532|PMID:32238909|PMID:35213059|PMID:9618162 8713810 Dcx doublecortin gene DOID:9000660 Choristoma ISO RGD:1348637 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Ectopic tissue PMID:10369164|PMID:10807542|PMID:11175293|PMID:11468322|PMID:12027577|PMID:12390976|PMID:12552055|PMID:12838518|PMID:14550532|PMID:17111359|PMID:17576681|PMID:18414213|PMID:18685874|PMID:19416314|PMID:23365099|PMID:25326635|PMID:25741868|PMID:25817838|PMID:25868952|PMID:26467025|PMID:28492532|PMID:28953922|PMID:29671837|PMID:30979500|PMID:31069529|PMID:31481326|PMID:32570172|PMID:34145886|PMID:35213059|PMID:9489699|PMID:9489700|PMID:9536098|PMID:9618162|PMID:9668176|PMID:9989615 8713810 Dcx doublecortin gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1348637 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum PMID:11175293|PMID:11468322|PMID:18414213|PMID:18685874|PMID:23365099|PMID:25741868|PMID:28492532|PMID:35213059 8713810 Dcx doublecortin gene DOID:9001379 Lissencephaly and Agenesis of Corpus Callosum ISO RGD:1348637 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Subcortical laminar heterotopia, X-linked PMID:10441340|PMID:10749977|PMID:11175293|PMID:11331616|PMID:11468322|PMID:12552055|PMID:17111359|PMID:18414213|PMID:18685874|PMID:22857951|PMID:23365099|PMID:25741868|PMID:28492532|PMID:35213059|PMID:9489699|PMID:9489700|PMID:9618162 8713810 Dcx doublecortin gene DOID:9002676 Cerebral Hemorrhage ISO RGD:620670 D RGD:9068941 20200609 RGD protein:increased expression:dentate gyrus PMID:24144742|REF_RGD_ID:12904766 8713810 Dcx doublecortin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348637 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:18414213|PMID:25741868|PMID:9489700 8713810 Dcx doublecortin gene DOID:9005501 Abnormal Cortical Gyration ISO RGD:1348637 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Abnormal cortical gyration PMID:11175293|PMID:18414213|PMID:23365099|PMID:28492532 8713810 Dcx doublecortin gene DOID:9006534 Nervous System Malformations ISO RGD:1348637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 8713810 Dcx doublecortin gene DOID:9008500 Classical Lissencephalies and Subcortical Band Heterotopias ISO RGD:1348637 D RGD:9068941 20240613 CTD CTD Direct Evidence: marker/mechanism 8713810 Dcx doublecortin gene DOID:9008500 Classical Lissencephalies and Subcortical Band Heterotopias ISO RGD:1348637 D RGD:9068941 20240613 RGD DNA:missense mutation:exon:p.A71S (211G>T) (human) PMID:11071144|REF_RGD_ID:12904735 8713810 Dcx doublecortin gene DOID:9008500 Classical Lissencephalies and Subcortical Band Heterotopias ISO RGD:1348637 D RGD:9068941 20240613 RGD DNA:missense mutation:exon:p.D262G (c.785A>G) (human) PMID:27292316|REF_RGD_ID:11568595 8713810 Dcx doublecortin gene DOID:9008500 Classical Lissencephalies and Subcortical Band Heterotopias ISO RGD:1348637 D RGD:9068941 20240613 RGD DNA:missense mutations: :multiple PMID:12838518|REF_RGD_ID:12904728 8713810 Dcx doublecortin gene DOID:9008552 Subcortical Band Heterotopia, X-Linked ISO RGD:1348637 D RGD:9068941 20200609 RGD DNA:deletions PMID:19050731|REF_RGD_ID:12904718 8713810 Dcx doublecortin gene DOID:9008552 Subcortical Band Heterotopia, X-Linked ISO RGD:1348637 D RGD:9068941 20200609 RGD DNA:nonsense mutation: :p.R186C (971C>T) (human) PMID:9618162|REF_RGD_ID:12904762 8713810 Dcx doublecortin gene DOID:9008552 Subcortical Band Heterotopia, X-Linked ISO RGD:620670 D RGD:9068941 20200609 RGD PMID:19098909|REF_RGD_ID:12904725 8713810 Dcx doublecortin gene DOID:9352 type 2 diabetes mellitus ISO RGD:620670 D RGD:9068941 20200609 RGD protein:decreased expression:dentate gyrus PMID:18982449|REF_RGD_ID:12904763 8713851 Atp6ap2 ATPase H+ transporting accessory protein 2 gene DOID:0051048 congenital disorder of glycosylation type IIr ISO RGD:1346001 D RGD:7240710 20200429 OMIM 8713851 Atp6ap2 ATPase H+ transporting accessory protein 2 gene DOID:0051048 congenital disorder of glycosylation type IIr ISO RGD:1346001 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: CDG IIr | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIr PMID:25741868|PMID:26467025|PMID:28492532|PMID:29127204 8713851 Atp6ap2 ATPase H+ transporting accessory protein 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8713851 Atp6ap2 ATPase H+ transporting accessory protein 2 gene DOID:0060806 syndromic X-linked intellectual disability Hedera type ISO RGD:1346001 D RGD:7240710 20180130 OMIM 8713851 Atp6ap2 ATPase H+ transporting accessory protein 2 gene DOID:0060806 syndromic X-linked intellectual disability Hedera type ISO RGD:1346001 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type PMID:11782983|PMID:15746149|PMID:17576681|PMID:23901204|PMID:25741868|PMID:26235985|PMID:26467025|PMID:26467484|PMID:28492532|PMID:30985297|PMID:9536098 8713851 Atp6ap2 ATPase H+ transporting accessory protein 2 gene DOID:0060807 syndromic X-linked intellectual disability Najm type ISO RGD:1346001 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked PMID:23901204|PMID:28492532 8713851 Atp6ap2 ATPase H+ transporting accessory protein 2 gene DOID:0111809 syndromic microphthalmia 2 ISO RGD:1346001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oculofaciocardiodental syndrome PMID:28492532 8713851 Atp6ap2 ATPase H+ transporting accessory protein 2 gene DOID:0112105 X-linked parkinsonism-spasticity syndrome ISO RGD:1346001 D RGD:7240710 20180130 OMIM 8713851 Atp6ap2 ATPase H+ transporting accessory protein 2 gene DOID:0112105 X-linked parkinsonism-spasticity syndrome ISO RGD:1346001 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Parkinsonism with spasticity, X-linked | ClinVar Annotator: match by term: X-linked parkinsonism-spasticity syndrome PMID:20629132|PMID:23595882|PMID:25741868|PMID:26467025|PMID:28492532 8713851 Atp6ap2 ATPase H+ transporting accessory protein 2 gene DOID:10763 hypertension ISO RGD:1561269 D RGD:9068941 20200609 RGD PMID:21321306|REF_RGD_ID:5132599 8713851 Atp6ap2 ATPase H+ transporting accessory protein 2 gene DOID:12849 autistic disorder ISO RGD:1346001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8713851 Atp6ap2 ATPase H+ transporting accessory protein 2 gene DOID:630 genetic disease ISO RGD:1346001 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:26467484|PMID:28492532 8713851 Atp6ap2 ATPase H+ transporting accessory protein 2 gene DOID:9000784 Fibrosis ISO RGD:1346001 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21795644 8713851 Atp6ap2 ATPase H+ transporting accessory protein 2 gene DOID:9001234 Prenatal Exposure Delayed Effects treatment ISO RGD:1561269 D RGD:9068941 20230817 RGD associated with maternal adenine induced chronic kidney disease PMID:32604820|REF_RGD_ID:401793718 8713851 Atp6ap2 ATPase H+ transporting accessory protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8713851 Atp6ap2 ATPase H+ transporting accessory protein 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1346001 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16759393 8713851 Atp6ap2 ATPase H+ transporting accessory protein 2 gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1346001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:11793468|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 8713883 Tnpo3 transportin 3 gene DOID:0080096 myofibrillar myopathy 5 ISO RGD:1318997 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 5 PMID:27908349|PMID:28492532 8713883 Tnpo3 transportin 3 gene DOID:0110273 autosomal dominant limb-girdle muscular dystrophy ISO RGD:1318997 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal dominant PMID:23543484|PMID:23667635|PMID:25741868|PMID:28492532|PMID:31071488|PMID:31217819 8713883 Tnpo3 transportin 3 gene DOID:0110304 autosomal dominant limb-girdle muscular dystrophy type 2 ISO RGD:1318997 D RGD:7240710 20180130 OMIM 8713883 Tnpo3 transportin 3 gene DOID:0110304 autosomal dominant limb-girdle muscular dystrophy type 2 ISO RGD:1318997 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1F | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1F PMID:11222786|PMID:16199547|PMID:17576681|PMID:23543484|PMID:23667635|PMID:25741868|PMID:28492532|PMID:30567601|PMID:31071488|PMID:31217819|PMID:31674007|PMID:31953240|PMID:33057194|PMID:9536098 8713883 Tnpo3 transportin 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1318997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8713883 Tnpo3 transportin 3 gene DOID:630 genetic disease ISO RGD:1318997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8713916 Trafd1 TRAF-type zinc finger domain containing 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1605702 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8713930 Ulk3 unc-51 like kinase 3 gene DOID:0080519 PAPA syndrome ISO RGD:1349871 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: PAPA SYNDROME PMID:28492532 8713930 Ulk3 unc-51 like kinase 3 gene DOID:0110225 Brugada syndrome 8 ISO RGD:1349871 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Brugada syndrome 8 PMID:28492532 8713930 Ulk3 unc-51 like kinase 3 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1349871 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 8713930 Ulk3 unc-51 like kinase 3 gene DOID:2717 Bloom syndrome ISO RGD:1349871 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8713930 Ulk3 unc-51 like kinase 3 gene DOID:5419 schizophrenia ISO RGD:1349871 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8713930 Ulk3 unc-51 like kinase 3 gene DOID:9256 colorectal cancer ISO RGD:1349871 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8713968 Draxin dorsal inhibitory axon guidance protein gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1605526 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 8713968 Draxin dorsal inhibitory axon guidance protein gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1605526 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8713968 Draxin dorsal inhibitory axon guidance protein gene DOID:0080600 COVID-19 ISO RGD:1605526 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8713968 Draxin dorsal inhibitory axon guidance protein gene DOID:14330 Parkinson's disease ISO RGD:1605526 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25475535 8713968 Draxin dorsal inhibitory axon guidance protein gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:1605526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 8713997 Slc1a2 solute carrier family 1 member 2 gene DOID:0080442 developmental and epileptic encephalopathy 41 ISO RGD:732300 D RGD:7240710 20190315 OMIM 8713997 Slc1a2 solute carrier family 1 member 2 gene DOID:0080442 developmental and epileptic encephalopathy 41 ISO RGD:732300 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 41 | ClinVar Annotator: match by term: SLC1A2-related condition PMID:23107647|PMID:23934111|PMID:24214974|PMID:25741868|PMID:27476654|PMID:28492532|PMID:28777935|PMID:29758562|PMID:30937933|PMID:31164858|PMID:31618753|PMID:34961934|PMID:36543780 8713997 Slc1a2 solute carrier family 1 member 2 gene DOID:1059 intellectual disability ISO RGD:732300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8713997 Slc1a2 solute carrier family 1 member 2 gene DOID:10652 Alzheimer's disease treatment ISO RGD:3697 D RGD:9068941 20250313 RGD PMID:38078339|REF_RGD_ID:597830179 8713997 Slc1a2 solute carrier family 1 member 2 gene DOID:12858 Huntington's disease ISO RGD:732300 D RGD:9068941 20200609 RGD PMID:9100675|REF_RGD_ID:13432194 8713997 Slc1a2 solute carrier family 1 member 2 gene DOID:12858 Huntington's disease ISO RGD:736773 D RGD:9068941 20200609 RGD PMID:17409241|REF_RGD_ID:13432195 8713997 Slc1a2 solute carrier family 1 member 2 gene DOID:1574 alcohol use disorder treatment ISO RGD:3697 D RGD:9068941 20250220 RGD PMID:32664441|REF_RGD_ID:597805903 8713997 Slc1a2 solute carrier family 1 member 2 gene DOID:1826 epilepsy ISO RGD:732300 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19853022 8713997 Slc1a2 solute carrier family 1 member 2 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:732300 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11723166 8713997 Slc1a2 solute carrier family 1 member 2 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:732300 D RGD:9068941 20200609 RGD mRNA:processing errors:spinal cord, motor cortex (human) PMID:9539131|REF_RGD_ID:1302517 8713997 Slc1a2 solute carrier family 1 member 2 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:3697 D RGD:9068941 20230902 RGD PMID:20423712|REF_RGD_ID:401794585 8713997 Slc1a2 solute carrier family 1 member 2 gene DOID:630 genetic disease ISO RGD:732300 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23934111|PMID:25741868|PMID:27476654|PMID:28492532|PMID:30937933|PMID:34961934|PMID:36543780 8713997 Slc1a2 solute carrier family 1 member 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:732300 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21471434 8713997 Slc1a2 solute carrier family 1 member 2 gene DOID:9002955 Nerve Degeneration ISO RGD:732300 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22645130 8713997 Slc1a2 solute carrier family 1 member 2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:732300 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19625514 8713997 Slc1a2 solute carrier family 1 member 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:732300 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30718926 8714015 LOC102009633 chromosome unknown open reading frame, human C17orf62 gene DOID:0070368 autosomal recessive chronic granulomatous disease 5 ISO RGD:1606782 D RGD:7240710 20200722 OMIM 8714015 LOC102009633 chromosome unknown open reading frame, human C17orf62 gene DOID:0070368 autosomal recessive chronic granulomatous disease 5 ISO RGD:1606782 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, 5 PMID:17576681|PMID:25741868|PMID:28492532|PMID:28600779|PMID:30312704|PMID:30361506|PMID:9536098 8714015 LOC102009633 chromosome unknown open reading frame, human C17orf62 gene DOID:1827 generalized epilepsy ISO RGD:1606782 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:28492532 8714037 Ncoa3 nuclear receptor coactivator 3 gene DOID:10003 sensorineural hearing loss ISO RGD:1344181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment PMID:19461658|PMID:30311386|PMID:33326993|PMID:34652575 8714037 Ncoa3 nuclear receptor coactivator 3 gene DOID:10283 prostate cancer ISO RGD:1344181 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate (human) PMID:20166126|REF_RGD_ID:5688351 8714037 Ncoa3 nuclear receptor coactivator 3 gene DOID:1240 leukemia ISO RGD:1344181 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19365708|PMID:19433130 8714037 Ncoa3 nuclear receptor coactivator 3 gene DOID:1612 breast cancer ISO RGD:620109 D RGD:9068941 20200609 RGD PMID:20051871|REF_RGD_ID:5688283 8714037 Ncoa3 nuclear receptor coactivator 3 gene DOID:1749 squamous cell carcinoma ISO RGD:1344181 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20852035 8714037 Ncoa3 nuclear receptor coactivator 3 gene DOID:2234 focal epilepsy ISO RGD:1344181 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8714037 Ncoa3 nuclear receptor coactivator 3 gene DOID:299 adenocarcinoma ISO RGD:1344181 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20852035 8714037 Ncoa3 nuclear receptor coactivator 3 gene DOID:3069 malignant astrocytoma ISO RGD:1344181 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24680642 8714037 Ncoa3 nuclear receptor coactivator 3 gene DOID:3459 breast carcinoma severity ISO RGD:1344181 D RGD:9068941 20200609 RGD protein:increased expression:breast (human) PMID:12725419|REF_RGD_ID:2289908 8714037 Ncoa3 nuclear receptor coactivator 3 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1344181 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20852035 8714037 Ncoa3 nuclear receptor coactivator 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1344181 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11927493|PMID:12237244 8714037 Ncoa3 nuclear receptor coactivator 3 gene DOID:9004389 Bone Neoplasms ISO RGD:1344181 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24134957 8714037 Ncoa3 nuclear receptor coactivator 3 gene DOID:9008939 Breast Neoplasms ISO RGD:1344181 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20332317 8714037 Ncoa3 nuclear receptor coactivator 3 gene DOID:9970 obesity ISO RGD:1344181 D RGD:9068941 20200609 RGD DNA:polymorphism:CDS:C-terminus polyglutamine repeat, combination of long polyglutamine repeat in NCOA3 and homozygous A1/A1 Progesterone Receptor genotype associated with obesity in 301 postmenopausal women with breast cancer PMID:14557830|REF_RGD_ID:1642050 8714095 Ebpl EBP like gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1312086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 8714095 Ebpl EBP like gene DOID:1059 intellectual disability ISO RGD:1312086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8714102 Spata33 spermatogenesis associated 33 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1602656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 8714102 Spata33 spermatogenesis associated 33 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1602656 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 8714102 Spata33 spermatogenesis associated 33 gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1602656 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:23613520 8714102 Spata33 spermatogenesis associated 33 gene DOID:13636 Fanconi anemia ISO RGD:1602656 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:11091222|PMID:28492532|PMID:29098742 8714102 Spata33 spermatogenesis associated 33 gene DOID:14780 KBG syndrome ISO RGD:1602656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:28492532|PMID:31602316 8714112 Mosmo modulator of smoothened gene DOID:0060399 chromosome 16p12.1 deletion syndrome ISO RGD:2302534 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb PMID:25741868 8714112 Mosmo modulator of smoothened gene DOID:12849 autistic disorder ISO RGD:2302534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8714112 Mosmo modulator of smoothened gene DOID:5419 schizophrenia ISO RGD:2302534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8714168 Kbtbd4 kelch repeat and BTB domain containing 4 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1321017 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 8714168 Kbtbd4 kelch repeat and BTB domain containing 4 gene DOID:1059 intellectual disability ISO RGD:1321017 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8714189 Dtd1 D-aminoacyl-tRNA deacylase 1 gene DOID:0070219 familial hyperinsulinemic hypoglycemia 1 ISO RGD:1323478 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 PMID:38605124 8714239 Kcna2 potassium voltage-gated channel subfamily A member 2 gene DOID:0060041 autism spectrum disorder ISO RGD:735518 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:28492532 8714239 Kcna2 potassium voltage-gated channel subfamily A member 2 gene DOID:0080416 developmental and epileptic encephalopathy 32 ISO RGD:735518 D RGD:7240710 20180130 OMIM 8714239 Kcna2 potassium voltage-gated channel subfamily A member 2 gene DOID:0080416 developmental and epileptic encephalopathy 32 ISO RGD:735518 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 32 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 32 | ClinVar Annotator: match by term: KCNA2-related disorder PMID:15694325|PMID:16002579|PMID:16770729|PMID:17634333|PMID:18414213|PMID:20584892|PMID:20696761|PMID:21044565|PMID:25477152|PMID:25741868|PMID:25751627|PMID:25950944|PMID:26467025|PMID:26599217|PMID:27062609|PMID:27117551|PMID:27457812|PMID:27543892|PMID:27733563|PMID:28019661|PMID:28032718|PMID:28204960|PMID:28492532|PMID:28806589|PMID:29050392|PMID:29100083|PMID:30182498|PMID:30283815|PMID:31170314|PMID:32086284|PMID:33232902|PMID:33624935|PMID:33802230|PMID:34445196|PMID:36619507|PMID:38517617|PMID:39825153|PMID:8663992|PMID:8663993 8714239 Kcna2 potassium voltage-gated channel subfamily A member 2 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:735518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:15694325|PMID:16002579|PMID:21044565|PMID:25477152|PMID:25741868|PMID:25751627|PMID:27733563|PMID:28492532|PMID:8663992|PMID:8663993 8714239 Kcna2 potassium voltage-gated channel subfamily A member 2 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:735518 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 8714239 Kcna2 potassium voltage-gated channel subfamily A member 2 gene DOID:1059 intellectual disability ISO RGD:735518 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25751627 8714239 Kcna2 potassium voltage-gated channel subfamily A member 2 gene DOID:12849 autistic disorder ISO RGD:735518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8714239 Kcna2 potassium voltage-gated channel subfamily A member 2 gene DOID:1826 epilepsy ISO RGD:735518 D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:25751627|PMID:27457812|PMID:28492532|PMID:28806589|PMID:29050392|PMID:30182498|PMID:33232902 8714239 Kcna2 potassium voltage-gated channel subfamily A member 2 gene DOID:630 genetic disease ISO RGD:735518 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15694325|PMID:16002579|PMID:20696761|PMID:21044565|PMID:25477152|PMID:25741868|PMID:25751627|PMID:26467025|PMID:26648591|PMID:27062609|PMID:27543892|PMID:27733563|PMID:28019661|PMID:28032718|PMID:28492532|PMID:28806589|PMID:29050392|PMID:30182498|PMID:33232902|PMID:33802230|PMID:34445196|PMID:36619507|PMID:38517617|PMID:39825153|PMID:8663992|PMID:8663993 8714239 Kcna2 potassium voltage-gated channel subfamily A member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:15694325|PMID:16002579|PMID:21044565|PMID:25477152|PMID:25741868|PMID:25751627|PMID:27733563|PMID:28492532|PMID:8663992|PMID:8663993 8714239 Kcna2 potassium voltage-gated channel subfamily A member 2 gene DOID:9005466 Language Development Disorders ISO RGD:735518 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25751627 8714239 Kcna2 potassium voltage-gated channel subfamily A member 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2950 D RGD:9068941 20200609 RGD PMID:17982915|REF_RGD_ID:7242761 8714239 Kcna2 potassium voltage-gated channel subfamily A member 2 gene DOID:9008086 Developmental Disabilities ISO RGD:735518 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 8714239 Kcna2 potassium voltage-gated channel subfamily A member 2 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:735518 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15088113 8714280 Ids iduronate 2-sulfatase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351665 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 8714280 Ids iduronate 2-sulfatase gene DOID:0111395 mucopolysaccharidosis type IIIA ISO RGD:1351665 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A PMID:10447264|PMID:11462244|PMID:11683780|PMID:1303211|PMID:1550586|PMID:16495038|PMID:17391447|PMID:18414213|PMID:18500569|PMID:19573456|PMID:21108396|PMID:21291454|PMID:21829674|PMID:22976768|PMID:22976778|PMID:23232253|PMID:23800320|PMID:24125893|PMID:24515576|PMID:25741868|PMID:26897145|PMID:27146977|PMID:27246110|PMID:27848944|PMID:27883178|PMID:27896113|PMID:28492532|PMID:29671225|PMID:29801497|PMID:30639582|PMID:31877959|PMID:33461977|PMID:33676511|PMID:33960103|PMID:35144014|PMID:36713083|PMID:36907694|PMID:36945845|PMID:7581397|PMID:7887413|PMID:8111411|PMID:8281149|PMID:8318991|PMID:8940265|PMID:9452044|PMID:9501270|PMID:9660053|PMID:9762601|PMID:9875019|PMID:9921913 8714280 Ids iduronate 2-sulfatase gene DOID:0111823 autosomal hemophilia A ISO RGD:1351665 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A PMID:31690835 8714280 Ids iduronate 2-sulfatase gene DOID:12134 factor VIII deficiency ISO RGD:1351665 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Factor 8 deficiency, congenital PMID:31690835 8714280 Ids iduronate 2-sulfatase gene DOID:12799 mucopolysaccharidosis II ISO RGD:1351665 D RGD:7240710 20180130 OMIM 8714280 Ids iduronate 2-sulfatase gene DOID:12799 mucopolysaccharidosis II ISO RGD:1351665 D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-II | ClinVar Annotator: match by term: Mucopolysaccharidosis, type II, mild form PMID:10215411|PMID:10220152|PMID:10671065|PMID:10738003|PMID:10814710|PMID:10838181|PMID:11452244|PMID:11462244|PMID:11683780|PMID:11731225|PMID:12572848|PMID:12794697|PMID:1284597|PMID:1303211|PMID:1355630|PMID:14728992|PMID:1550586|PMID:15614569|PMID:16133661|PMID:16199547|PMID:1639384|PMID:16480701|PMID:16495038|PMID:17063374|PMID:17091340|PMID:17284421|PMID:17343270|PMID:17391447|PMID:17576681|PMID:17655837|PMID:18414213|PMID:18500569|PMID:1906048|PMID:19573456|PMID:20104590|PMID:20301451|PMID:21291454|PMID:21639919|PMID:21829674|PMID:22153556|PMID:22190500|PMID:22286622|PMID:22492741|PMID:22912587|PMID:22976768|PMID:22976778|PMID:22990955|PMID:23430829|PMID:24125893|PMID:24268528|PMID:24454794|PMID:24515576|PMID:24780617|PMID:24875751|PMID:25038527|PMID:25640679|PMID:25681085|PMID:25741868|PMID:25976201|PMID:26407519|PMID:26693516|PMID:26752647|PMID:26762690|PMID:27146977|PMID:27246110|PMID:27351199|PMID:27848944|PMID:27883178|PMID:27896113|PMID:28077157|PMID:28492532|PMID:28543354|PMID:28593992|PMID:29801497|PMID:30409495|PMID:30639582|PMID:30755392|PMID:30809705|PMID:31732130|PMID:31877959|PMID:31895584|PMID:32005694|PMID:32014045|PMID:33075783|PMID:33096603|PMID:33117908|PMID:33124617|PMID:33622387|PMID:33676511|PMID:33960103|PMID:34670126|PMID:34813777|PMID:35005816|PMID:35144014|PMID:35242576|PMID:35916809|PMID:36945845|PMID:7581397|PMID:7728156|PMID:7814022|PMID:7866405|PMID:7887413|PMID:8111411|PMID:8318991|PMID:8364592|PMID:8664909|PMID:8807335|PMID:8829647|PMID:8829661|PMID:8830188|PMID:8940265|PMID:9222763|PMID:9266380|PMID:9375851|PMID:9452044|PMID:9501270|PMID:9536098|PMID:9573369|PMID:9660053|PMID:9762601|PMID:9875019|PMID:9921913|PMID:9950361 8714280 Ids iduronate 2-sulfatase gene DOID:12799 mucopolysaccharidosis II ISO RGD:1351665 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-II | ClinVar Annotator: match by term: Mucopolysaccharidosis, type II, mild form PMID:10215411|PMID:10220152|PMID:10447264|PMID:10493987|PMID:10671065|PMID:10738003|PMID:10814710|PMID:10838181|PMID:11015461|PMID:11452244|PMID:11462244|PMID:11683780|PMID:11731225|PMID:11858372|PMID:12048688|PMID:12572848|PMID:12655569|PMID:12794697|PMID:1284597|PMID:1303211|PMID:1355630|PMID:14728992|PMID:15192834|PMID:15500445|PMID:1550586|PMID:15614569|PMID:16133661|PMID:16199547|PMID:1639384|PMID:16456790|PMID:16480701|PMID:16495038|PMID:16699754|PMID:16735228|PMID:16738950|PMID:16770800|PMID:17063374|PMID:17091340|PMID:17284421|PMID:17343270|PMID:17391447|PMID:17576681|PMID:17616540|PMID:17655837|PMID:17657858|PMID:18331837|PMID:18396123|PMID:18414213|PMID:18500569|PMID:18546295|PMID:19046346|PMID:1906048|PMID:19573456|PMID:19933090|PMID:20104590|PMID:20301451|PMID:20960627|PMID:20960629|PMID:21062272|PMID:21108396|PMID:21291454|PMID:21528770|PMID:21605424|PMID:21639919|PMID:21706504|PMID:21829674|PMID:21834048|PMID:21910981|PMID:21963080|PMID:22153556|PMID:22190500|PMID:22246721|PMID:22286622|PMID:22492741|PMID:22622771|PMID:22912587|PMID:22976768|PMID:22976778|PMID:22990955|PMID:23232253|PMID:23430803|PMID:23430829|PMID:23430907|PMID:23726270|PMID:23800320|PMID:23867855|PMID:24125893|PMID:24268528|PMID:24454794|PMID:24515576|PMID:24767253|PMID:24780617|PMID:24798265|PMID:24875751|PMID:25038527|PMID:25169630|PMID:25640679|PMID:25681085|PMID:25741868|PMID:25976201|PMID:26407519|PMID:26693516|PMID:26752647|PMID:26762690|PMID:26897145|PMID:27146977|PMID:27187040|PMID:27246110|PMID:27351199|PMID:27789394|PMID:27789398|PMID:27789399|PMID:27837218|PMID:27848944|PMID:27883178|PMID:27896113|PMID:28077157|PMID:28186595|PMID:28477385|PMID:28492532|PMID:28543354|PMID:28588666|PMID:28593992|PMID:28720891|PMID:28844463|PMID:29671225|PMID:29801497|PMID:30409495|PMID:30639582|PMID:30755392|PMID:30809705|PMID:30945278|PMID:31046699|PMID:31071499|PMID:31456290|PMID:31618753|PMID:31732130|PMID:31877959|PMID:31895584|PMID:31991612|PMID:32005694|PMID:32014045|PMID:32036093|PMID:32448126|PMID:32619248|PMID:32775211|PMID:33075783|PMID:33096603|PMID:33117908|PMID:33124617|PMID:33176815|PMID:33461977|PMID:33622387|PMID:33674846|PMID:33676511|PMID:33960103|PMID:34193122|PMID:34258227|PMID:34630504|PMID:34670126|PMID:34813777|PMID:34906519|PMID:35005816|PMID:35123515|PMID:35144014|PMID:35225932|PMID:35242576|PMID:35568060|PMID:35759972|PMID:35782619|PMID:35882106|PMID:35887520|PMID:35916809|PMID:36077388|PMID:36713083|PMID:36907694|PMID:36945845|PMID:36980980|PMID:39303318|PMID:7492967|PMID:7581397|PMID:7599640|PMID:7728156|PMID:7814022|PMID:7866405|PMID:7887413|PMID:7981716|PMID:8111411|PMID:8281149|PMID:8318991|PMID:8364592|PMID:8566953|PMID:8664909|PMID:8807335|PMID:8829647|PMID:8829661|PMID:8830188|PMID:8940265|PMID:9222763|PMID:9266380|PMID:9375851|PMID:9442913|PMID:9452044|PMID:9501270|PMID:9536098|PMID:9573369|PMID:9611068|PMID:9660053|PMID:9762601|PMID:9875019|PMID:9921913|PMID:9950361 8714280 Ids iduronate 2-sulfatase gene DOID:12801 mucopolysaccharidosis III ISO RGD:1351665 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Heparan sulfate sulfatase deficiency PMID:25741868|PMID:28492532 8714280 Ids iduronate 2-sulfatase gene DOID:12849 autistic disorder ISO RGD:1351665 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8714280 Ids iduronate 2-sulfatase gene DOID:630 genetic disease ISO RGD:1351665 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10215411|PMID:10671065|PMID:11858372|PMID:1639384|PMID:16495038|PMID:17063374|PMID:17091340|PMID:18414213|PMID:18500569|PMID:19573456|PMID:21291454|PMID:21639919|PMID:21829674|PMID:22286622|PMID:22976768|PMID:22976778|PMID:23800320|PMID:24125893|PMID:24515576|PMID:24780617|PMID:25741868|PMID:26407519|PMID:27246110|PMID:27351199|PMID:27883178|PMID:27896113|PMID:28077157|PMID:28492532|PMID:28543354|PMID:29671225|PMID:29801497|PMID:30639582|PMID:30945278|PMID:31618753|PMID:31877959|PMID:33461977|PMID:33676511|PMID:33960103|PMID:34813777|PMID:35144014|PMID:35225932|PMID:36713083|PMID:36907694|PMID:36945845|PMID:7728156|PMID:7887413|PMID:8111411|PMID:8281149|PMID:8940265|PMID:9452044|PMID:9501270|PMID:9573369|PMID:9660053|PMID:9762601|PMID:9875019|PMID:9950361 8714280 Ids iduronate 2-sulfatase gene DOID:9001254 Epidermolysis Bullosa Simplex 5D with Nail Dystrophy ISO RGD:1351665 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy PMID:28492532 8714280 Ids iduronate 2-sulfatase gene DOID:9005172 Lung Neoplasms ISO RGD:1351665 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 8714280 Ids iduronate 2-sulfatase gene DOID:9008086 Developmental Disabilities ISO RGD:1351665 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532|PMID:30755392|PMID:34670126 8714363 Mybpc3 myosin binding protein C3 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1314284 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:15519027|PMID:19574547|PMID:20474083|PMID:23690394|PMID:24033266|PMID:24510615|PMID:25543971|PMID:25611685|PMID:25741868|PMID:26914223|PMID:27532257|PMID:28408708|PMID:28492532|PMID:28615295|PMID:31534214 8714363 Mybpc3 myosin binding protein C3 gene DOID:0050451 Brugada syndrome ISO RGD:1314284 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:12707239|PMID:18533079|PMID:20215591|PMID:21499742|PMID:21832025|PMID:21832052|PMID:21835320|PMID:22361390|PMID:23861362|PMID:24033266|PMID:24111713|PMID:25132132|PMID:25351510|PMID:25741868|PMID:26914223|PMID:28492532 8714363 Mybpc3 myosin binding protein C3 gene DOID:0050451 Brugada syndrome ISO RGD:1314284 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:12707239|PMID:18533079|PMID:20215591|PMID:21499742|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835320|PMID:22361390|PMID:23861362|PMID:24033266|PMID:24111713|PMID:25132132|PMID:25351510|PMID:25741868|PMID:26914223|PMID:28356264|PMID:28492532|PMID:28840316|PMID:34097875|PMID:35208637|PMID:35653365|PMID:37652022 8714363 Mybpc3 myosin binding protein C3 gene DOID:0050638 transthyretin amyloidosis ISO RGD:1314284 D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Familial Transthyretin Amyloidosis PMID:11499719|PMID:12974739|PMID:15519027|PMID:17560888|PMID:22464770|PMID:22763267|PMID:22995991|PMID:23217326|PMID:23233322|PMID:23820649|PMID:24033266|PMID:24055113|PMID:25637381|PMID:25741868|PMID:26090888|PMID:26332594|PMID:28492532|PMID:34097875 8714363 Mybpc3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12379228|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12787675|PMID:12788380|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:14613868|PMID:14718142|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15671604|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16061003|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16352453|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17386157|PMID:17536430|PMID:17560888|PMID:17576681|PMID:17612681|PMID:17908752|PMID:17937428|PMID:17947214|PMID:18258667|PMID:18273486|PMID:18337725|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19150014|PMID:19151713|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19632136|PMID:19659763|PMID:19666645|PMID:19808356|PMID:19858127|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20201939|PMID:20215591|PMID:20298698|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20505798|PMID:20513729|PMID:20530761|PMID:20542340|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:20864638|PMID:20975235|PMID:21185001|PMID:21185128|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21915287|PMID:21939669|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22122802|PMID:22173300|PMID:22177269|PMID:22178992|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23782526|PMID:23785128|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24327208|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25034069|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:25583989|PMID:25611685|PMID:25631583|PMID:25635128|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25849606|PMID:25856671|PMID:25971843|PMID:26090888|PMID:26163040|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26332198|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26497160|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26743238 8714363 Mybpc3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27854218|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28450932|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28843747|PMID:28855170|PMID:28971120|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29367541|PMID:29398688|PMID:2943217|PMID:29447731|PMID:29493010|PMID:29497013|PMID:29511324|PMID:29540472|PMID:29555771|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29773157|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29988065|PMID:30025578|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30609409|PMID:30645170|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30959811|PMID:30972196|PMID:30985088|PMID:31006259|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31199839|PMID:31293105|PMID:3140859|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31589614|PMID:31737537|PMID:31918855|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32123317|PMID:32163302|PMID:32396390|PMID:32451163|PMID:32480058|PMID:32492895|PMID:32543992|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32880476|PMID:33035702|PMID:33190526|PMID:33258288|PMID:33407484|PMID:33673806|PMID:33782553|PMID:34097875|PMID:34135346|PMID:34540771|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053 8714363 Mybpc3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12379228|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12787675|PMID:12788380|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:14613868|PMID:14718142|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15671604|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16061003|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16352453|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17536430|PMID:17560888|PMID:17576681|PMID:17612681|PMID:17908752|PMID:17937428|PMID:17947214|PMID:18258667|PMID:18273486|PMID:18337725|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19150014|PMID:19151713|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19632136|PMID:19659763|PMID:19666645|PMID:19808356|PMID:19858127|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20201939|PMID:20215591|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20505798|PMID:20513729|PMID:20530761|PMID:20542340|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:20864638|PMID:21185001|PMID:21185128|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21915287|PMID:21939669|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22122802|PMID:22173300|PMID:22177269|PMID:22178992|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23782526|PMID:23785128|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24327208|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25034069|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:25583989|PMID:25611685|PMID:25631583|PMID:25635128|PMID:25637381|PMID:25640679|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25849606|PMID:25856671|PMID:25971843|PMID:26090888|PMID:26163040|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26332198|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26497160|PMID:26654849|PMID:26671970|PMID:26688216|PMID:26743238|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621 8714363 Mybpc3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:27000522|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28265379|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28843747|PMID:28971120|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29367541|PMID:29398688|PMID:2943217|PMID:29447731|PMID:29493010|PMID:29497013|PMID:29511324|PMID:29524613|PMID:29555771|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29773157|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29988065|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30609409|PMID:30645170|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30959811|PMID:30972196|PMID:30985088|PMID:31006259|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31199839|PMID:31293105|PMID:3140859|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31589614|PMID:31730716|PMID:31737537|PMID:31918855|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32123317|PMID:32163302|PMID:32183154|PMID:32396390|PMID:32451163|PMID:32480058|PMID:32492895|PMID:32543992|PMID:32600061|PMID:32656747|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32880476|PMID:33035702|PMID:33190526|PMID:33258288|PMID:33297573|PMID:33407484|PMID:33673806|PMID:33782553|PMID:34097875|PMID:34135346|PMID:34540771|PMID:35535697|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053 8714363 Mybpc3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12379228|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12787675|PMID:12788380|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:14613868|PMID:14718142|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15671604|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16061003|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16352453|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17536430|PMID:17560888|PMID:17576681|PMID:17612681|PMID:17908752|PMID:17937428|PMID:17947214|PMID:18258667|PMID:18273486|PMID:18337725|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19150014|PMID:19151713|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19632136|PMID:19659763|PMID:19666645|PMID:19808356|PMID:19858127|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20201939|PMID:20215591|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20505798|PMID:20513729|PMID:20530761|PMID:20542340|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:20864638|PMID:21185001|PMID:21185128|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21915287|PMID:21939669|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22122802|PMID:22173300|PMID:22177269|PMID:22178992|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23740383|PMID:23782526|PMID:23785128|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24327208|PMID:24440382|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25034069|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:25583989|PMID:25611685|PMID:25631583|PMID:25635128|PMID:25637381|PMID:25640679|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25849606|PMID:25856671|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26163040|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26271555|PMID:26272908|PMID:26332198|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26497160|PMID:26654849 8714363 Mybpc3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:26656175|PMID:26671970|PMID:26688216|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27114410|PMID:27135274|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27585509|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28031081|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28255936|PMID:28265379|PMID:28301460|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28600387|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28843747|PMID:28971120|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29192238|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29255176|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29493010|PMID:29497013|PMID:29511324|PMID:29524613|PMID:29555771|PMID:29565423|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29853478|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:29998127|PMID:30009132|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30442288|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30586709|PMID:30600190|PMID:30609409|PMID:30645170|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30959811|PMID:30972196|PMID:30984009|PMID:30985088|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31323898|PMID:31376648|PMID:3140859|PMID:31424582|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31699567|PMID:31730716|PMID:31737537|PMID:31901299|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32123317|PMID:32163302|PMID:32183154|PMID:32233023|PMID:32250699|PMID:32356610|PMID:32369506|PMID:32396390|PMID:32420109|PMID:32451163|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32543992|PMID:32600061|PMID:32656747|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32830170|PMID:32841044|PMID:32880476|PMID:33003980|PMID:33029862|PMID:33035702|PMID:33190526|PMID:33258288|PMID:33297573|PMID:33407484|PMID:33432171|PMID:33495597|PMID:33673806|PMID:33782553|PMID:34088380|PMID:34097875|PMID:34135346|PMID:34389451|PMID:34395343|PMID:34426522|PMID:34540771|PMID:35535697|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053 8714363 Mybpc3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:26656175|PMID:26671970|PMID:26688216|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27114410|PMID:27135274|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27585509|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28031081|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28255936|PMID:28265379|PMID:28301460|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28600387|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28843747|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29192238|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29255176|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29493010|PMID:29497013|PMID:29511324|PMID:29524613|PMID:29555771|PMID:29565423|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29853478|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:29998127|PMID:30009132|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30442288|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30586709|PMID:30600190|PMID:30609409|PMID:30645170|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30959811|PMID:30972196|PMID:30984009|PMID:30985088|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31323898|PMID:31376648|PMID:3140859|PMID:31424582|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31699567|PMID:31730716|PMID:31737537|PMID:31901299|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32123317|PMID:32163302|PMID:32183154|PMID:32233023|PMID:32250699|PMID:32356610|PMID:32369506|PMID:32396390|PMID:32420109|PMID:32451163|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32543992|PMID:32600061|PMID:32656747|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32830170|PMID:32841044|PMID:32880476|PMID:33003980|PMID:33029862|PMID:33035702|PMID:33190526|PMID:33258288|PMID:33297573|PMID:33407484|PMID:33432171|PMID:33495597|PMID:33673806|PMID:33782553|PMID:34088380|PMID:34097875|PMID:34135346|PMID:34389451|PMID:34395343|PMID:34426522|PMID:34540771|PMID:35535697|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053 8714363 Mybpc3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12379228|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12787675|PMID:12788380|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:14613868|PMID:14718142|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15671604|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16061003|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16352453|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17224687|PMID:17386157|PMID:17521870|PMID:17536430|PMID:17560888|PMID:17576681|PMID:17612681|PMID:17655857|PMID:17908752|PMID:17937428|PMID:17947214|PMID:18258667|PMID:18273486|PMID:18337725|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19150014|PMID:19151713|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19632136|PMID:19659763|PMID:19666645|PMID:19808356|PMID:19858127|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20201939|PMID:20215591|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20505798|PMID:20513729|PMID:20530761|PMID:20542340|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:20864638|PMID:20975235|PMID:21165360|PMID:21185001|PMID:21185128|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21915287|PMID:21939669|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22122802|PMID:22173300|PMID:22177269|PMID:22178992|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23740383|PMID:23782526|PMID:23785128|PMID:23816408|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24327208|PMID:24440382|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24749114|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25034069|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:25583989|PMID:25611685|PMID:25631583|PMID:25635128|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25849606|PMID:25856671|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26163040|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26271555|PMID:26272908|PMID:26332198 8714363 Mybpc3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26497160|PMID:26633542|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27114410|PMID:27135274|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27585509|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27884173|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28031081|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28255936|PMID:28265379|PMID:28301460|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28600387|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28843747|PMID:28855170|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29192238|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29255176|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29449720|PMID:29493010|PMID:29497013|PMID:29511324|PMID:29517769|PMID:29524613|PMID:29540472|PMID:29555771|PMID:29565423|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29853478|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:29998127|PMID:30009132|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30282064|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30442288|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30586709|PMID:30600190|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30959811|PMID:30972196|PMID:30984009|PMID:30985088|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31323898|PMID:31376648|PMID:31397097|PMID:3140859|PMID:31424582|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31699567|PMID:31730716|PMID:31737537|PMID:31901299|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32034629|PMID:32123317|PMID:32163302|PMID:32183154|PMID:32233023|PMID:32250699|PMID:32355288|PMID:32356610|PMID:32369506|PMID:32380161|PMID:32396390|PMID:32420109|PMID:32451163|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32543992|PMID:32600061|PMID:32656747|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32830170|PMID:32841044|PMID:32880476|PMID:32901917|PMID:33003980|PMID:33029862|PMID:33035702|PMID:33190526|PMID:33258288|PMID:33297573|PMID:33325730|PMID:33407484|PMID:33432171|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33658040|PMID:33673806|PMID:33782553|PMID:34011823|PMID:34088380|PMID:34097875|PMID:34135346|PMID:34389451|PMID:34395343|PMID:34426522|PMID:34540771|PMID:34542152|PMID:34598319|PMID:34935411|PMID:35535697|PMID:35626289|PMID:35629155|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053 8714363 Mybpc3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:26332198|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26497160|PMID:26633542|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27114410|PMID:27135274|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27585509|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27650965|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27884173|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28031081|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28255936|PMID:28265379|PMID:28301460|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28600387|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28843747|PMID:28855170|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29192238|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29255176|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29449720|PMID:29493010|PMID:29497013|PMID:29511324|PMID:29517769|PMID:29524613|PMID:29540472|PMID:29555771|PMID:29565423|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29853478|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:29998127|PMID:30009132|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30282064|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30442288|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30586709|PMID:30600190|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30959811|PMID:30972196|PMID:30984009|PMID:30985088|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31323898|PMID:31376648|PMID:31397097|PMID:3140859|PMID:31424582|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31699567|PMID:31730716|PMID:31737537|PMID:31901299|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32034629|PMID:32123317|PMID:32163302|PMID:32183154|PMID:32233023|PMID:32250699|PMID:32355288|PMID:32356610|PMID:32369506|PMID:32380161|PMID:32396390|PMID:32420109|PMID:32451163|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32543992|PMID:32600061|PMID:32656747|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32830170|PMID:32841044|PMID:32880476|PMID:32901917|PMID:33003980|PMID:33029862|PMID:33035702|PMID:33190526|PMID:33258288|PMID:33297573|PMID:33325730|PMID:33407484|PMID:33432171|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33658040|PMID:33673806|PMID:33782553|PMID:34011823|PMID:34088380|PMID:34097875|PMID:34135346|PMID:34389451|PMID:34395343|PMID:34426522|PMID:34540771|PMID:34542152|PMID:34598319|PMID:34816733|PMID:34915024|PMID:34935411|PMID:35208637|PMID:35535697|PMID:35626289|PMID:35629155|PMID:35653365|PMID:35753512|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053 8714363 Mybpc3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12379228|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12787675|PMID:12788380|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:14613868|PMID:14718142|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15671604|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16061003|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16352453|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17224687|PMID:17386157|PMID:17521870|PMID:17536430|PMID:17560888|PMID:17576681|PMID:17612681|PMID:17655857|PMID:17908752|PMID:17937428|PMID:17947214|PMID:18258667|PMID:18273486|PMID:18337725|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19150014|PMID:19151713|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19632136|PMID:19659763|PMID:19666645|PMID:19808356|PMID:19858127|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20201939|PMID:20215591|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20505798|PMID:20513729|PMID:20530761|PMID:20542340|PMID:20560008|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:20864638|PMID:20975235|PMID:21165360|PMID:21185001|PMID:21185128|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21915287|PMID:21939669|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22122802|PMID:22173300|PMID:22177269|PMID:22178992|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23740383|PMID:23782526|PMID:23785128|PMID:23816408|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24327208|PMID:24440382|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24749114|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25034069|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:25583989|PMID:25611685|PMID:25631583|PMID:25635128|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25849606|PMID:25856671|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26163040|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26271555|PMID:26272908 8714363 Mybpc3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:26332198|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26497160|PMID:26633542|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27114410|PMID:27135274|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27585509|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27650965|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27884173|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28031081|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28255936|PMID:28265379|PMID:28301460|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28600387|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28843747|PMID:28855170|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29192238|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29255176|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29449720|PMID:29493010|PMID:29497013|PMID:29511324|PMID:29517769|PMID:29524613|PMID:29540472|PMID:29555771|PMID:29565423|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29853478|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:29998127|PMID:30009132|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30282064|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30442288|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30586709|PMID:30600190|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30959811|PMID:30972196|PMID:30984009|PMID:30985088|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31323898|PMID:31376648|PMID:31397097|PMID:3140859|PMID:31424582|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31699567|PMID:31730716|PMID:31737537|PMID:31901299|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32034629|PMID:32123317|PMID:32163302|PMID:32183154|PMID:32233023|PMID:32250699|PMID:32355288|PMID:32356610|PMID:32369506|PMID:32380161|PMID:32396390|PMID:32420109|PMID:32451163|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32543992|PMID:32600061|PMID:32656747|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32830170|PMID:32841044|PMID:32880476|PMID:32901917|PMID:33003980|PMID:33029862|PMID:33035702|PMID:33190526|PMID:33258288|PMID:33297573|PMID:33325730|PMID:33407484|PMID:33432171|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33658040|PMID:33673806|PMID:33782553|PMID:33919104|PMID:34011823|PMID:34088380|PMID:34097875|PMID:34135346|PMID:34389451|PMID:34395343|PMID:34426522|PMID:34540771|PMID:34542152|PMID:34598319|PMID:34816733|PMID:34915024|PMID:34935411|PMID:35208637|PMID:35535697|PMID:35626289|PMID:35629155|PMID:35653365|PMID:35753512|PMID:35885957|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053 8714363 Mybpc3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12379228|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12787675|PMID:12788380|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:14613868|PMID:14718142|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15671604|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16061003|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16352453|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17224687|PMID:17386157|PMID:17521870|PMID:17536430|PMID:17560888|PMID:17576681|PMID:17612681|PMID:17655857|PMID:17908752|PMID:17937428|PMID:17947214|PMID:18258667|PMID:18273486|PMID:18337725|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19150014|PMID:19151713|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19632136|PMID:19659763|PMID:19666645|PMID:19808356|PMID:19858127|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20201939|PMID:20215591|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20505798|PMID:20513729|PMID:20530761|PMID:20542340|PMID:20560008|PMID:20594303|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:20864638|PMID:20975235|PMID:21088121|PMID:21165360|PMID:21185001|PMID:21185128|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21915287|PMID:21939669|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22122802|PMID:22173300|PMID:22177269|PMID:22178992|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23740383|PMID:23782526|PMID:23785128|PMID:23816408|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24327208|PMID:24440382|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24749114|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25034069|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:25583989|PMID:25611685|PMID:25631583|PMID:25635128|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25849606|PMID:25856671|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26163040|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065 8714363 Mybpc3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:26271555|PMID:26272908|PMID:26332198|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26497160|PMID:26633542|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27114410|PMID:27135274|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27585509|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27650965|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27884173|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28029522|PMID:28031081|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28255936|PMID:28265379|PMID:28301460|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28600387|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28843747|PMID:28855170|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29192238|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29255176|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29449720|PMID:29493010|PMID:29497013|PMID:29511324|PMID:29517769|PMID:29524613|PMID:29540472|PMID:29555771|PMID:29565423|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29853478|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:29998127|PMID:30009132|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30282064|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30442288|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30586709|PMID:30600190|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30959811|PMID:30972196|PMID:30984009|PMID:30985088|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31323898|PMID:31376648|PMID:31397097|PMID:3140859|PMID:31424582|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31699567|PMID:31730716|PMID:31737537|PMID:31901299|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32034629|PMID:32123317|PMID:32163302|PMID:32183154|PMID:32233023|PMID:32250699|PMID:32355288|PMID:32356610|PMID:32369506|PMID:32380161|PMID:32396390|PMID:32420109|PMID:32451163|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32543992|PMID:32600061|PMID:32656747|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32830170|PMID:32841044|PMID:32880476|PMID:32901917|PMID:33003980|PMID:33029862|PMID:33035702|PMID:33190526|PMID:33258288|PMID:33297573|PMID:33325730|PMID:33407484|PMID:33432171|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33658040|PMID:33673806|PMID:33782553|PMID:33919104|PMID:34011823|PMID:34088380|PMID:34097875|PMID:34135346|PMID:34389451|PMID:34395343|PMID:34400558|PMID:34426522|PMID:34428338|PMID:34540771|PMID:34542152|PMID:34598319|PMID:34816733|PMID:34819141|PMID:34915024|PMID:34935411|PMID:35208637|PMID:35304488|PMID:35535697|PMID:35626289|PMID:35629155|PMID:35653365|PMID:35753512|PMID:35885957|PMID:36328362|PMID:36588553|PMID:397516074|PMID:3980194 8714363 Mybpc3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053 8714363 Mybpc3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:26271555|PMID:26272908|PMID:26332198|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26497160|PMID:26633542|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27114410|PMID:27135274|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27585509|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27650965|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27884173|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28029522|PMID:28031081|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28255936|PMID:28265379|PMID:28301460|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28600387|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28843747|PMID:28855170|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29192238|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29255176|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29449720|PMID:29493010|PMID:29497013|PMID:29511324|PMID:29517769|PMID:29524613|PMID:29540472|PMID:29555771|PMID:29565423|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29853478|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:29998127|PMID:30009132|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30282064|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30442288|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30586709|PMID:30600190|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30959811|PMID:30972196|PMID:30984009|PMID:30985088|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31323898|PMID:31376648|PMID:31397097|PMID:31402444|PMID:3140859|PMID:31424582|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31699567|PMID:31730716|PMID:31737537|PMID:31901299|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32034629|PMID:32123317|PMID:32163302|PMID:32183154|PMID:32233023|PMID:32250699|PMID:32355288|PMID:32356610|PMID:32369506|PMID:32380161|PMID:32396390|PMID:32420109|PMID:32451163|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32543992|PMID:32600061|PMID:32656747|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32830170|PMID:32841044|PMID:32880476|PMID:32901917|PMID:33003980|PMID:33029862|PMID:33035702|PMID:33190526|PMID:33232181|PMID:33258288|PMID:33297573|PMID:33325730|PMID:33407484|PMID:33432171|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33658040|PMID:33673806|PMID:33782553|PMID:33906374|PMID:33919104|PMID:34011823|PMID:34088380|PMID:34097875|PMID:34135346|PMID:34389451|PMID:34395343|PMID:34400558|PMID:34426522|PMID:34428338|PMID:34540771|PMID:34542152|PMID:34598319|PMID:34816733|PMID:34819141|PMID:34915024|PMID:34935411|PMID:35208637|PMID:35304488|PMID:35535697|PMID:35626289|PMID:35629155|PMID:35653365|PMID:35753512|PMID:35885957|PMID:36264615 8714363 Mybpc3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:36328362|PMID:36588553|PMID:397516074|PMID:3980194|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053 8714363 Mybpc3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy with or without skeletal myopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:10424815|PMID:10521296|PMID:10610770|PMID:10736283|PMID:11447480|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12379228|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12601548|PMID:12628722|PMID:12707239|PMID:12787675|PMID:12788380|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:14613868|PMID:14718142|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15671604|PMID:1572569|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16061003|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16352453|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17224687|PMID:17263690|PMID:17386157|PMID:17521870|PMID:17536430|PMID:17560888|PMID:17576681|PMID:17612681|PMID:17655857|PMID:17908752|PMID:17937428|PMID:17947214|PMID:18258667|PMID:18273486|PMID:18337725|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19134269|PMID:19149795|PMID:19150014|PMID:19151713|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19632136|PMID:19659763|PMID:19666645|PMID:19694057|PMID:19808356|PMID:19858127|PMID:198863|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20201939|PMID:20215591|PMID:20359594|PMID:20378854|PMID:203962|PMID:203979|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20505798|PMID:20513729|PMID:20530761|PMID:20542340|PMID:20560008|PMID:20594303|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:208206|PMID:208208|PMID:20864638|PMID:20975235|PMID:21088121|PMID:21165360|PMID:21185001|PMID:21185128|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21915287|PMID:21939669|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22122802|PMID:22173300|PMID:22177269|PMID:22178992|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23740383|PMID:23782526|PMID:23785128|PMID:23816408|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24327208|PMID:24440382|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24749114|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25034069|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:25583989|PMID:2561168|PMID:25611685|PMID:25631583|PMID:25635128|PMID:25637381 8714363 Mybpc3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy with or without skeletal myopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25849606|PMID:25856671|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26163040|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26271555|PMID:26272908|PMID:26332198|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26455666|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26497160|PMID:26633542|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27114410|PMID:27135274|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27585509|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27620334|PMID:27650965|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27884173|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28029522|PMID:28031081|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28254189|PMID:28255936|PMID:28265379|PMID:28301460|PMID:2832387|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28600387|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28747690|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28843747|PMID:28855170|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29192238|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29255176|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29449720|PMID:29493010|PMID:29497013|PMID:29511324|PMID:29517769|PMID:29524613|PMID:29540472|PMID:29555771|PMID:29565423|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29853478|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:29998127|PMID:30009132|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30282064|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30442288|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30554920|PMID:30586709|PMID:30600190|PMID:30609409|PMID:30611859|PMID:30615648|PMID:30645170|PMID:30669812|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30763825|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30959811|PMID:30972196|PMID:30984009|PMID:30985088|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31179125|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31323898|PMID:31333075|PMID:31376648|PMID:31397097|PMID:31402444|PMID:3140859|PMID:31424582|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31660989|PMID:31677916|PMID:31699567|PMID:31730716|PMID:31737537|PMID:31901299|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32034629|PMID:32041989|PMID:32101375|PMID:32123317|PMID:32163302|PMID:32183154|PMID:32228044|PMID:32233023|PMID:32250699|PMID:32341788|PMID:32355288|PMID:32356610|PMID:32369506|PMID:32380161|PMID:32396390|PMID:32420109|PMID:32451163|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32543992|PMID:32588587|PMID:32600061|PMID:32656747|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32826072|PMID:32830170|PMID:32841044|PMID:32880476|PMID:32901917|PMID:32917565|PMID:33003980|PMID:33029862|PMID:33035702|PMID:33087929|PMID:33148509|PMID:33190526 8714363 Mybpc3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy with or without skeletal myopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:33232181|PMID:33241513|PMID:33258288|PMID:33297573|PMID:33302605|PMID:33325730|PMID:33407484|PMID:33432171|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33530161|PMID:33588347|PMID:33657327|PMID:33658040|PMID:33658374|PMID:33662488|PMID:33663232|PMID:33673806|PMID:33757590|PMID:33764162|PMID:33782553|PMID:33830315|PMID:33892289|PMID:33906374|PMID:33919104|PMID:34011823|PMID:34026292|PMID:34088380|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34310159|PMID:34389451|PMID:34395343|PMID:34400558|PMID:34426522|PMID:34428338|PMID:34540771|PMID:34542152|PMID:34555931|PMID:34598319|PMID:34667957|PMID:34769381|PMID:34816733|PMID:34819141|PMID:34853230|PMID:34915024|PMID:34935411|PMID:34949102|PMID:35026164|PMID:35027292|PMID:35199016|PMID:35200695|PMID:35208637|PMID:35227736|PMID:35265679|PMID:35284542|PMID:35288587|PMID:35304488|PMID:35470680|PMID:35470684|PMID:35508642|PMID:35535697|PMID:35581137|PMID:35626289|PMID:35629155|PMID:35653365|PMID:35753512|PMID:35885957|PMID:35934244|PMID:36082122|PMID:36166435|PMID:36178741|PMID:36203036|PMID:36252119|PMID:36264615|PMID:36291626|PMID:36293497|PMID:36328362|PMID:36352534|PMID:36357371|PMID:36580209|PMID:36588553|PMID:36788754|PMID:36835444|PMID:37178278|PMID:37477868|PMID:37589201|PMID:37963751|PMID:397516074|PMID:3980194|PMID:739990|PMID:747929|PMID:7493025|PMID:7493026|PMID:7786104|PMID:8533079|PMID:9048664|PMID:9241277|PMID:924849|PMID:925171|PMID:9503187|PMID:950554|PMID:9536098|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053 8714363 Mybpc3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:10424815|PMID:10521296|PMID:10610770|PMID:10736283|PMID:11447480|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12379228|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12601548|PMID:12628722|PMID:12707239|PMID:12787675|PMID:12788380|PMID:12818575|PMID:12951062|PMID:12974739|PMID:1428680|PMID:14563344|PMID:14613868|PMID:14718142|PMID:15000344|PMID:15010274|PMID:1504154|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15671604|PMID:1572569|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16061003|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16352453|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17224687|PMID:17263690|PMID:17386157|PMID:17521870|PMID:17536430|PMID:17560888|PMID:17576681|PMID:17612681|PMID:17655857|PMID:17908752|PMID:17937428|PMID:17947214|PMID:18258667|PMID:18273486|PMID:18337725|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19134269|PMID:19149795|PMID:19150014|PMID:19151713|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19632136|PMID:19659763|PMID:19666645|PMID:19694057|PMID:19808356|PMID:19858127|PMID:198863|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20201939|PMID:20215591|PMID:20359594|PMID:20378854|PMID:203962|PMID:203979|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20505798|PMID:20513729|PMID:20530761|PMID:20542340|PMID:20560008|PMID:20594303|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:208206|PMID:208208|PMID:20864638|PMID:20975235|PMID:21088121|PMID:21165360|PMID:21185001|PMID:21185128|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21915287|PMID:21939669|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22122802|PMID:22173300|PMID:22177269|PMID:22178992|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23740383|PMID:23782526|PMID:23785128|PMID:23816408|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24327208|PMID:24440382|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24749114|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:24906243|PMID:25031304|PMID:25034069|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:25583989|PMID:2561168|PMID:25611685 8714363 Mybpc3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:25631583|PMID:25635128|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25741909|PMID:25849606|PMID:25856671|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26163040|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26271555|PMID:26272908|PMID:26332198|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26455666|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26497160|PMID:26633542|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26688388|PMID:26743238|PMID:26776584|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27114410|PMID:27135274|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27585509|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27620334|PMID:27650965|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27884173|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28029522|PMID:28031081|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28254189|PMID:28255936|PMID:28265379|PMID:28301460|PMID:2832387|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28600387|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28747690|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28843747|PMID:28855170|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29192238|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29255176|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29449720|PMID:29493010|PMID:29497013|PMID:29511324|PMID:29517769|PMID:29524613|PMID:29540472|PMID:29555771|PMID:29565423|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29853478|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:29998127|PMID:30009132|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30282064|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30442288|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30554920|PMID:30586709|PMID:30600190|PMID:30609409|PMID:30611859|PMID:30615648|PMID:30645170|PMID:30669812|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30763825|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30959811|PMID:30972196|PMID:30984009|PMID:30985088|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31179125|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31323898|PMID:31333075|PMID:31376648|PMID:31397097|PMID:31402444|PMID:3140859|PMID:31424582|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31660989|PMID:31677916|PMID:31699567|PMID:31730716|PMID:31737537|PMID:31901299|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32034629|PMID:32041989|PMID:32101375|PMID:32123317|PMID:32163302|PMID:32183154|PMID:32228044|PMID:32233023|PMID:32250699|PMID:32341788|PMID:32355288|PMID:32356610|PMID:32369506|PMID:32380161|PMID:32396390|PMID:32420109|PMID:32451163|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32543992|PMID:32588587|PMID:32600061|PMID:32656747|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32826072|PMID:32830170|PMID:32841044|PMID:32880476|PMID:32901917|PMID:32917565|PMID:33003980 8714363 Mybpc3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:33029862|PMID:33035702|PMID:33087929|PMID:33148509|PMID:33190526|PMID:33232181|PMID:33241513|PMID:33258288|PMID:33297573|PMID:33302605|PMID:33325730|PMID:33407484|PMID:33432171|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33530161|PMID:33588347|PMID:33657327|PMID:33658040|PMID:33658374|PMID:33662488|PMID:33663232|PMID:33673806|PMID:33757590|PMID:33764162|PMID:33782553|PMID:33830315|PMID:33892289|PMID:33906374|PMID:33919104|PMID:33996946|PMID:34011823|PMID:34026292|PMID:34088380|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34310159|PMID:34389451|PMID:34395343|PMID:34400558|PMID:34426522|PMID:34428338|PMID:34540771|PMID:34542152|PMID:34555931|PMID:34598319|PMID:34667957|PMID:34769381|PMID:34816733|PMID:34819141|PMID:34853230|PMID:34915024|PMID:34935411|PMID:34949102|PMID:35026164|PMID:35027292|PMID:35199016|PMID:35200695|PMID:35208637|PMID:35227736|PMID:35265679|PMID:35284542|PMID:35288587|PMID:35304488|PMID:35411935|PMID:35470680|PMID:35470684|PMID:35508642|PMID:35535697|PMID:35581137|PMID:35581268|PMID:35626289|PMID:35629155|PMID:35653365|PMID:35753512|PMID:35885957|PMID:35934244|PMID:36082122|PMID:36166435|PMID:36178741|PMID:36203036|PMID:36252119|PMID:36264615|PMID:36291626|PMID:36293497|PMID:36328362|PMID:36352534|PMID:36357371|PMID:36580209|PMID:36588553|PMID:36788754|PMID:36835444|PMID:37178278|PMID:37477868|PMID:37589201|PMID:37963751|PMID:3852942|PMID:397516074|PMID:3980194|PMID:739990|PMID:747929|PMID:7493025|PMID:7493026|PMID:7786104|PMID:8533079|PMID:9048664|PMID:9241277|PMID:924849|PMID:925171|PMID:9503187|PMID:950554|PMID:9536098|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053 8714363 Mybpc3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:32841044|PMID:32880476|PMID:32888301|PMID:32901917|PMID:32917565|PMID:33029862|PMID:33035702|PMID:33087929|PMID:33148509|PMID:33190526|PMID:33232181|PMID:33241513|PMID:33258288|PMID:33297573|PMID:33302605|PMID:33325730|PMID:33407484|PMID:33432171|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33530161|PMID:33588347|PMID:33657327|PMID:33658040|PMID:33658374|PMID:33662488|PMID:33663232|PMID:33673806|PMID:33757590|PMID:33764162|PMID:33782553|PMID:33830315|PMID:33892289|PMID:33906374|PMID:33919104|PMID:33996946|PMID:34011823|PMID:34026292|PMID:34087240|PMID:34088380|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34310159|PMID:34389451|PMID:34395343|PMID:34400558|PMID:34426522|PMID:34428338|PMID:34540771|PMID:34542152|PMID:34555931|PMID:34598319|PMID:34601892|PMID:34667957|PMID:34769381|PMID:34785479|PMID:34816733|PMID:34819141|PMID:34853230|PMID:34915024|PMID:34935411|PMID:34949102|PMID:35026164|PMID:35027292|PMID:35199016|PMID:35200695|PMID:35208637|PMID:35227736|PMID:35265679|PMID:35284542|PMID:35288587|PMID:35304488|PMID:35411935|PMID:35470680|PMID:35470684|PMID:35508642|PMID:35535697|PMID:35581137|PMID:35581268|PMID:35626289|PMID:35629155|PMID:35653365|PMID:35753512|PMID:35885957|PMID:35934244|PMID:36082122|PMID:36136372|PMID:36166435|PMID:36178741|PMID:36203036|PMID:36252119|PMID:36264615|PMID:36291626|PMID:36293497|PMID:36328362|PMID:36352534|PMID:36357371|PMID:36580209|PMID:36588553|PMID:36660067|PMID:36704059|PMID:36788754|PMID:36835444|PMID:36980931|PMID:37178278|PMID:37431535|PMID:37477868|PMID:37589201|PMID:37963751|PMID:38296580|PMID:3852942|PMID:397516074|PMID:3980194|PMID:739990|PMID:747929|PMID:7493025|PMID:7493026|PMID:7786104|PMID:8533079|PMID:9048664|PMID:9241277|PMID:924849|PMID:925171|PMID:9503187|PMID:950554|PMID:9536098|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053 8714363 Mybpc3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:10424815|PMID:10521296|PMID:10610770|PMID:10736283|PMID:11447480|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12379228|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12601548|PMID:12628722|PMID:12707239|PMID:12787675|PMID:12788380|PMID:12818575|PMID:12951062|PMID:12974739|PMID:1428680|PMID:14563344|PMID:14613868|PMID:14718142|PMID:15000344|PMID:15010274|PMID:1504154|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15671604|PMID:1572569|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16061003|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16352453|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17224687|PMID:17263690|PMID:17386157|PMID:17521870|PMID:17536430|PMID:17560888|PMID:17576681|PMID:17612681|PMID:17655857|PMID:17908752|PMID:17937428|PMID:17947214|PMID:18258667|PMID:18273486|PMID:18337725|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19134269|PMID:19149795|PMID:19150014|PMID:19151713|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19632136|PMID:19659763|PMID:19666645|PMID:19694057|PMID:19808356|PMID:19858127|PMID:198863|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20201939|PMID:20215591|PMID:20359594|PMID:20378854|PMID:203962|PMID:203979|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20505798|PMID:20513729|PMID:20530761|PMID:20542340|PMID:20560008|PMID:20594303|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20817590|PMID:20818890|PMID:208206|PMID:208208|PMID:20864638|PMID:20975235|PMID:21088121|PMID:21158001|PMID:21165360|PMID:21185001|PMID:21185128|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21915287|PMID:21939669|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22122802|PMID:22173300|PMID:22177269|PMID:22178992|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22515980|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23740383|PMID:23782526|PMID:23785128|PMID:23816408|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24327208|PMID:24440382|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24749114|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:24906243|PMID:25031304|PMID:25034069|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:25583989 8714363 Mybpc3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:2561168|PMID:25611685|PMID:25631583|PMID:25635128|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25849606|PMID:25856671|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26163040|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26271555|PMID:26272908|PMID:26332198|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26455666|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26497160|PMID:26633542|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26688388|PMID:26743238|PMID:26776584|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27114410|PMID:27135274|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27585509|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27620334|PMID:27650965|PMID:27662471|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27884173|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28029522|PMID:28031081|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28254189|PMID:28255936|PMID:28265379|PMID:28301460|PMID:2832387|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28600387|PMID:28611029|PMID:28614222|PMID:2861529|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28747690|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28793143|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28843747|PMID:28855170|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29192238|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29255176|PMID:29300372|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29449720|PMID:29493010|PMID:29497013|PMID:29511324|PMID:29517769|PMID:29524613|PMID:29540445|PMID:29540472|PMID:29555771|PMID:29565423|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29758562|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29853478|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:29998127|PMID:30009132|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30282064|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30442288|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30554920|PMID:30586709|PMID:30600190|PMID:30609409|PMID:30611859|PMID:30615648|PMID:30645170|PMID:30669812|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30763825|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30959811|PMID:30972196|PMID:30984009|PMID:30985088|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31179125|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31323898|PMID:31333075|PMID:31376648|PMID:31397097|PMID:31402444|PMID:3140859|PMID:31424582|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31660989|PMID:31677916|PMID:31699567|PMID:31730716|PMID:31737537|PMID:31901299|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32034629|PMID:32041989|PMID:32101375|PMID:32123317|PMID:32163302|PMID:32183154|PMID:32228044|PMID:32233023|PMID:32250699|PMID:32341788|PMID:32355288|PMID:32356610|PMID:32369506|PMID:32380161|PMID:32396390|PMID:32420109|PMID:32451163|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32543992|PMID:32588587|PMID:32600061|PMID:32656747|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32826072|PMID:32830170 8714363 Mybpc3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:32841044|PMID:32880476|PMID:32888301|PMID:32901917|PMID:32917565|PMID:33029862|PMID:33035702|PMID:33087929|PMID:33148509|PMID:33190526|PMID:33232181|PMID:33241513|PMID:33258288|PMID:33297573|PMID:33302605|PMID:33325730|PMID:33407484|PMID:33432171|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33530161|PMID:33588347|PMID:33657327|PMID:33658040|PMID:33658374|PMID:33662488|PMID:33663232|PMID:33673806|PMID:33757590|PMID:33764162|PMID:33782553|PMID:33830315|PMID:33892289|PMID:33906374|PMID:33919104|PMID:33996946|PMID:34011823|PMID:34026292|PMID:34087240|PMID:34088380|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34310159|PMID:34389451|PMID:34395343|PMID:34400558|PMID:34426522|PMID:34428338|PMID:34540771|PMID:34542152|PMID:34555931|PMID:34598319|PMID:34601892|PMID:34667957|PMID:34769381|PMID:34785479|PMID:34816733|PMID:34819141|PMID:34853230|PMID:34915024|PMID:34935411|PMID:34949102|PMID:35026164|PMID:35027292|PMID:35199016|PMID:35200695|PMID:35208637|PMID:35227736|PMID:35265679|PMID:35284542|PMID:35288587|PMID:35304488|PMID:35411935|PMID:35470680|PMID:35470684|PMID:35508642|PMID:35535697|PMID:35581137|PMID:35581268|PMID:35626289|PMID:35629155|PMID:35653365|PMID:35753512|PMID:35885957|PMID:35934244|PMID:36082122|PMID:36136372|PMID:36166435|PMID:36178741|PMID:36203036|PMID:36252119|PMID:36264615|PMID:36291626|PMID:36293497|PMID:36328362|PMID:36352534|PMID:36357371|PMID:36580209|PMID:36588553|PMID:36660067|PMID:36704059|PMID:36788754|PMID:36835444|PMID:36980931|PMID:37178278|PMID:37431535|PMID:37477868|PMID:37589201|PMID:37652022|PMID:37963751|PMID:38296580|PMID:3852942|PMID:397516074|PMID:3980194|PMID:739990|PMID:747929|PMID:7493025|PMID:7493026|PMID:7786104|PMID:8533079|PMID:9048664|PMID:9241277|PMID:924849|PMID:925171|PMID:9503187|PMID:950554|PMID:9536098|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053 8714363 Mybpc3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:2561168|PMID:25611685|PMID:25631583|PMID:25635128|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25849606|PMID:25856671|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26163040|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26271555|PMID:26272908|PMID:26332198|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26455666|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26497160|PMID:26633542|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26688388|PMID:26743238|PMID:26776584|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27114410|PMID:27135274|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27585509|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27620334|PMID:27650965|PMID:27662471|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27884173|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28029522|PMID:28031081|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28254189|PMID:28255936|PMID:28265379|PMID:28301460|PMID:2832387|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28600387|PMID:28611029|PMID:28614222|PMID:2861529|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28747690|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28793143|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28843747|PMID:28855170|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29192238|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29255176|PMID:29300372|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29449720|PMID:29493010|PMID:29497013|PMID:29511324|PMID:29517769|PMID:29524613|PMID:29540445|PMID:29540472|PMID:29555771|PMID:29565423|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29758562|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29853478|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:29998127|PMID:30009132|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30282064|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30442288|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30554920|PMID:30586709|PMID:30600190|PMID:30609409|PMID:30611859|PMID:30615648|PMID:30645170|PMID:30669812|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30763825|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30959811|PMID:30972196|PMID:30984009|PMID:30985088|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31179125|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31323898|PMID:31333075|PMID:31376648|PMID:31397097|PMID:31402444|PMID:3140859|PMID:31424582|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31660989|PMID:31677916|PMID:31699567|PMID:31730716|PMID:31737537|PMID:31901299|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32034629|PMID:32041989|PMID:32101375|PMID:32123317|PMID:32163302|PMID:32183154|PMID:32228044|PMID:32233023|PMID:32250699|PMID:32341788|PMID:32355288|PMID:32356610|PMID:32369506|PMID:32380161|PMID:32396390|PMID:32420109|PMID:32451163|PMID:32461654|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32543992|PMID:32588587|PMID:32600061|PMID:32656747|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32826072 8714363 Mybpc3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:32830170|PMID:32841044|PMID:32880476|PMID:32888301|PMID:32901917|PMID:32917565|PMID:33029862|PMID:33035702|PMID:33087929|PMID:33148509|PMID:33190526|PMID:33232181|PMID:33241513|PMID:33258288|PMID:33297573|PMID:33302605|PMID:33325730|PMID:33407484|PMID:33432171|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33530161|PMID:33588347|PMID:33657327|PMID:33658040|PMID:33658374|PMID:33662488|PMID:33663232|PMID:33673806|PMID:33757590|PMID:33764162|PMID:33782553|PMID:33830315|PMID:33892289|PMID:33906374|PMID:33919104|PMID:33996946|PMID:34011823|PMID:34026292|PMID:34087240|PMID:34088380|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34310159|PMID:34389451|PMID:34395343|PMID:34400558|PMID:34426522|PMID:34428338|PMID:34540771|PMID:34542152|PMID:34555931|PMID:34598319|PMID:34601892|PMID:34667957|PMID:34769381|PMID:34785479|PMID:34816733|PMID:34819141|PMID:34853230|PMID:34915024|PMID:34935411|PMID:34949102|PMID:35026164|PMID:35027292|PMID:35199016|PMID:35200695|PMID:35208637|PMID:35227736|PMID:35265679|PMID:35284542|PMID:35288587|PMID:35304488|PMID:35411935|PMID:35470680|PMID:35470684|PMID:35508642|PMID:35535697|PMID:35581137|PMID:35581268|PMID:35626289|PMID:35629155|PMID:35653365|PMID:35753512|PMID:35885957|PMID:35934244|PMID:36082122|PMID:36136372|PMID:36166435|PMID:36178741|PMID:36203036|PMID:36252119|PMID:36264615|PMID:36291626|PMID:36293497|PMID:36328362|PMID:36352534|PMID:36357371|PMID:36580209|PMID:36588553|PMID:36660067|PMID:36704059|PMID:36788754|PMID:36835444|PMID:36980931|PMID:37178278|PMID:37431535|PMID:37477868|PMID:37589201|PMID:37652022|PMID:37963751|PMID:38296580|PMID:3852942|PMID:397516074|PMID:3980194|PMID:739990|PMID:747929|PMID:7493025|PMID:7493026|PMID:7786104|PMID:8533079|PMID:9048664|PMID:9241277|PMID:924849|PMID:925171|PMID:9503187|PMID:950554|PMID:9536098|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053 8714363 Mybpc3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10424815|PMID:10521296|PMID:10610770|PMID:10736283|PMID:11447480|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12379228|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12601548|PMID:12628722|PMID:12707239|PMID:12787675|PMID:12788380|PMID:12818575|PMID:12951062|PMID:12974739|PMID:1428680|PMID:14563344|PMID:14613868|PMID:14718142|PMID:15000344|PMID:15010274|PMID:1504154|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15671604|PMID:1572569|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16061003|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16352453|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17192269|PMID:17224687|PMID:17263690|PMID:17386157|PMID:17521870|PMID:17536430|PMID:17560888|PMID:17576681|PMID:17612681|PMID:17655857|PMID:17908752|PMID:17937428|PMID:17947214|PMID:18258667|PMID:18273486|PMID:18337725|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19134269|PMID:19149795|PMID:19150014|PMID:19151713|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19632136|PMID:19659763|PMID:19666645|PMID:19694057|PMID:19808356|PMID:19858127|PMID:198863|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20201939|PMID:20215591|PMID:20359594|PMID:20378854|PMID:203962|PMID:203979|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20505798|PMID:20513729|PMID:20530761|PMID:20542340|PMID:20560008|PMID:20594303|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20817590|PMID:20818890|PMID:208206|PMID:208208|PMID:20864638|PMID:20975235|PMID:21088121|PMID:21158001|PMID:21165360|PMID:21185001|PMID:21185128|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21915287|PMID:21939669|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22122802|PMID:22173300|PMID:22177269|PMID:22178992|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22515980|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23740383|PMID:23782526|PMID:23785128|PMID:23816408|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24327208|PMID:24440382|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24749114|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:24906243|PMID:25031304|PMID:25034069|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433 8714363 Mybpc3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:25583989|PMID:2561168|PMID:25611685|PMID:25631583|PMID:25634555|PMID:25635128|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25741891|PMID:25849606|PMID:25856671|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26163040|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26271555|PMID:26272908|PMID:26332198|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26455666|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26497160|PMID:26633542|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26688388|PMID:26743238|PMID:26776584|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27114410|PMID:27135274|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27535533|PMID:27561770|PMID:27576561|PMID:27585509|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27620334|PMID:27650965|PMID:27662471|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27884173|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28029522|PMID:28031081|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28254189|PMID:28255936|PMID:28265379|PMID:28301460|PMID:2832387|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28600387|PMID:28611029|PMID:28614222|PMID:2861529|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28747690|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28793143|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28843747|PMID:28855170|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29192238|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29255176|PMID:29300372|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29449720|PMID:29493010|PMID:29497013|PMID:29511324|PMID:29517769|PMID:29524613|PMID:29540445|PMID:29540472|PMID:29555771|PMID:29565423|PMID:29625023|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29758562|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29853478|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:29998127|PMID:30009132|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30282064|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30442288|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30554920|PMID:30586709|PMID:30600190|PMID:30609409|PMID:30611859|PMID:30615648|PMID:30645170|PMID:30665703|PMID:30669812|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30763825|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30959811|PMID:30972196|PMID:30984009|PMID:30985088|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31179125|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31323898|PMID:31333075|PMID:31376648|PMID:31397097|PMID:31402444|PMID:3140859|PMID:31424582|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31660989|PMID:31677916|PMID:31699567|PMID:31730716|PMID:31737537|PMID:31771441|PMID:31901299|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32034629|PMID:32041989|PMID:32101375|PMID:32123317|PMID:32163302|PMID:32183154|PMID:32228044|PMID:32233023|PMID:32250699|PMID:32268277|PMID:32341788|PMID:32355288|PMID:32356610|PMID:32369506|PMID:32380161|PMID:32396390|PMID:32420109|PMID:32451163|PMID:32461654|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32543992|PMID:32588587 8714363 Mybpc3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:32600061|PMID:32656747|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32826072|PMID:32830170|PMID:32841044|PMID:32880476|PMID:32888301|PMID:32901917|PMID:32917565|PMID:33029862|PMID:33035702|PMID:33087929|PMID:33148509|PMID:33190526|PMID:33232181|PMID:33241513|PMID:33258288|PMID:33297573|PMID:33302605|PMID:33325730|PMID:33407484|PMID:33432171|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33530161|PMID:33558530|PMID:33588347|PMID:33657327|PMID:33658040|PMID:33658374|PMID:33662488|PMID:33663232|PMID:33673806|PMID:33732734|PMID:33757590|PMID:33764162|PMID:33782553|PMID:33830315|PMID:33892289|PMID:33906374|PMID:33919104|PMID:33996946|PMID:34011823|PMID:34026292|PMID:34087240|PMID:34088380|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34310159|PMID:34389451|PMID:34395343|PMID:34400558|PMID:34426522|PMID:34428338|PMID:34540771|PMID:34542152|PMID:34555931|PMID:34598319|PMID:34601892|PMID:34667957|PMID:34769381|PMID:34785479|PMID:34816733|PMID:34819141|PMID:34853230|PMID:34915024|PMID:34935411|PMID:34949102|PMID:35026164|PMID:35027292|PMID:35199016|PMID:35200695|PMID:35208637|PMID:35227736|PMID:35265679|PMID:35284542|PMID:35288587|PMID:35304488|PMID:35411935|PMID:35470680|PMID:35470684|PMID:35508642|PMID:35535697|PMID:35581137|PMID:35581268|PMID:35626289|PMID:35629155|PMID:35653365|PMID:35753512|PMID:35838873|PMID:35885957|PMID:35934244|PMID:36082122|PMID:36136372|PMID:36166435|PMID:36178741|PMID:36203036|PMID:36252119|PMID:36264615|PMID:36291626|PMID:36293497|PMID:36328362|PMID:36352534|PMID:36357371|PMID:36580209|PMID:36588553|PMID:36660067|PMID:36704059|PMID:36788754|PMID:36835444|PMID:36980931|PMID:37178278|PMID:37431535|PMID:37477868|PMID:37589201|PMID:37652022|PMID:37937776|PMID:37963751|PMID:38296580|PMID:3852942|PMID:39481677|PMID:397516074|PMID:3980194|PMID:739990|PMID:747929|PMID:7493025|PMID:7493026|PMID:7786104|PMID:8533079|PMID:9048664|PMID:9241277|PMID:924849|PMID:925171|PMID:9503187|PMID:950554|PMID:9536098|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053 8714363 Mybpc3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10424815|PMID:10521296|PMID:10610770|PMID:10736283|PMID:11447480|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12379228|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12601548|PMID:12628722|PMID:12707239|PMID:12787675|PMID:12788380|PMID:12818575|PMID:12951062|PMID:12974739|PMID:1428680|PMID:14563344|PMID:14613868|PMID:14718142|PMID:15000344|PMID:15010274|PMID:1504154|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15671604|PMID:1572569|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16061003|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16352453|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17192269|PMID:17224687|PMID:17263690|PMID:17386157|PMID:17521870|PMID:17536430|PMID:17560888|PMID:17576681|PMID:17612681|PMID:17655857|PMID:17908752|PMID:17937428|PMID:17947214|PMID:18258667|PMID:18273486|PMID:18337725|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19134269|PMID:19149795|PMID:19150014|PMID:19151713|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19632136|PMID:19659763|PMID:19666645|PMID:19694057|PMID:19808356|PMID:19858127|PMID:198863|PMID:19996403|PMID:20019025|PMID:20021930|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20201939|PMID:20215591|PMID:20359594|PMID:20378854|PMID:203962|PMID:203979|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20505798|PMID:20513729|PMID:20530761|PMID:20542340|PMID:20560008|PMID:20594303|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:208206|PMID:208208|PMID:20851114|PMID:20864638|PMID:20975235|PMID:21088121|PMID:21158001|PMID:21165360|PMID:21185001|PMID:21185128|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21488308|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21915287|PMID:21939669|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22122802|PMID:22173300|PMID:22177269|PMID:22178992|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23740383|PMID:23782526|PMID:23785128|PMID:23816408|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24327208|PMID:24440382|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24749114|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:24906243|PMID:25031304|PMID:25034069|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701 8714363 Mybpc3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:25569433|PMID:25583989|PMID:2561168|PMID:25611685|PMID:25631583|PMID:25634555|PMID:25635128|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25741891|PMID:25849606|PMID:25856671|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26163040|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26271555|PMID:26272908|PMID:26332198|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26455666|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26497160|PMID:26633542|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26688388|PMID:26743238|PMID:26776584|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27114410|PMID:27135274|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27535533|PMID:27561770|PMID:27576561|PMID:27585509|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27620334|PMID:27650965|PMID:27662471|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27884173|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28029522|PMID:28031081|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28254189|PMID:28255936|PMID:28265379|PMID:28301460|PMID:2832387|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28600387|PMID:28611029|PMID:28614222|PMID:2861529|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28747690|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28793143|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28843747|PMID:28855170|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29192238|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29255176|PMID:29300372|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29449720|PMID:29493010|PMID:29497013|PMID:29511324|PMID:29517769|PMID:29524613|PMID:29540445|PMID:29540472|PMID:29555771|PMID:29565423|PMID:29625023|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29758562|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29853478|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:29998127|PMID:30009132|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30282064|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30442288|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30554920|PMID:30586709|PMID:30600190|PMID:30609409|PMID:30611859|PMID:30615648|PMID:30645170|PMID:30665703|PMID:30669812|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30763825|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30959811|PMID:30972196|PMID:30984009|PMID:30985088|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31179125|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31323898|PMID:31333075|PMID:31376648|PMID:31397097|PMID:31402444|PMID:3140859|PMID:31424582|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31660989|PMID:31677916|PMID:31699567|PMID:31730716|PMID:31737537|PMID:31771441|PMID:31901299|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32034629|PMID:32041989|PMID:32101375|PMID:32123317|PMID:32163302|PMID:32183154|PMID:32228044|PMID:32233023|PMID:32250699|PMID:32268277|PMID:32341788|PMID:32355288|PMID:32356610|PMID:32369506|PMID:32380161|PMID:32396390|PMID:32420109|PMID:32451163|PMID:32461654|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32543992 8714363 Mybpc3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:32588587|PMID:32600061|PMID:32656747|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32826072|PMID:32830170|PMID:32841044|PMID:32880476|PMID:32888301|PMID:32901917|PMID:32917565|PMID:33029862|PMID:33035702|PMID:33087929|PMID:33148509|PMID:33190526|PMID:33232181|PMID:33241513|PMID:33258288|PMID:33297573|PMID:33302605|PMID:33325730|PMID:33407484|PMID:33432171|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33530161|PMID:33558530|PMID:33588347|PMID:33657327|PMID:33658040|PMID:33658374|PMID:33662488|PMID:33663232|PMID:33673806|PMID:33732734|PMID:33757590|PMID:33764162|PMID:33782553|PMID:33830315|PMID:33874732|PMID:33892289|PMID:33906374|PMID:33919104|PMID:33996946|PMID:34011823|PMID:34026292|PMID:34087240|PMID:34088380|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34310159|PMID:34389451|PMID:34395343|PMID:34400558|PMID:34426522|PMID:34428338|PMID:34540771|PMID:34542152|PMID:34555931|PMID:34556856|PMID:34598319|PMID:34601892|PMID:34667957|PMID:34680864|PMID:34694434|PMID:34769381|PMID:34785479|PMID:34816733|PMID:34819141|PMID:34853230|PMID:34915024|PMID:34935411|PMID:34949102|PMID:35026164|PMID:35027292|PMID:35176171|PMID:35199016|PMID:35200695|PMID:35208637|PMID:35227736|PMID:35265679|PMID:35284542|PMID:35288587|PMID:35304488|PMID:35411935|PMID:35470680|PMID:35470684|PMID:35508642|PMID:35535697|PMID:35581137|PMID:35581268|PMID:35626289|PMID:35629155|PMID:35653365|PMID:35753512|PMID:35838873|PMID:35885957|PMID:35934244|PMID:36082122|PMID:36136372|PMID:36140281|PMID:36166435|PMID:36178741|PMID:36203036|PMID:36252119|PMID:36264615|PMID:36291626|PMID:36293497|PMID:36328362|PMID:36352534|PMID:36357371|PMID:36580209|PMID:36588553|PMID:36660067|PMID:36704059|PMID:36788754|PMID:36835444|PMID:36980931|PMID:37089884|PMID:37178278|PMID:37194601|PMID:37431535|PMID:37466024|PMID:37477868|PMID:37498360|PMID:37589201|PMID:37652022|PMID:37844837|PMID:37937352|PMID:37937776|PMID:37963751|PMID:38002985|PMID:38296580|PMID:38489124|PMID:3852942|PMID:38540378|PMID:38757491|PMID:39481677|PMID:397516074|PMID:3980194|PMID:739990|PMID:747929|PMID:7493025|PMID:7493026|PMID:7786104|PMID:8533079|PMID:9048664|PMID:9241277|PMID:924849|PMID:925171|PMID:9503187|PMID:950554|PMID:9536098|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053 8714363 Mybpc3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10424815|PMID:10521296|PMID:10610770|PMID:10736283|PMID:11447480|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12379228|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12601548|PMID:12628722|PMID:12707239|PMID:12787675|PMID:12788380|PMID:12818575|PMID:12951062|PMID:12974739|PMID:1428680|PMID:14563344|PMID:14613868|PMID:14718142|PMID:15000344|PMID:15010274|PMID:1504154|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15671604|PMID:1572569|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16061003|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16352453|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17192269|PMID:17224687|PMID:17263690|PMID:17386157|PMID:17521870|PMID:17536430|PMID:17560888|PMID:17576681|PMID:17612681|PMID:17655857|PMID:17908752|PMID:17937428|PMID:17947214|PMID:18258667|PMID:18273486|PMID:18337725|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19134269|PMID:19149795|PMID:19150014|PMID:19151713|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19632136|PMID:19659763|PMID:19666645|PMID:19694057|PMID:19808356|PMID:19858127|PMID:198863|PMID:19996403|PMID:20019025|PMID:20021930|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20201939|PMID:20215591|PMID:20359594|PMID:20378854|PMID:203962|PMID:203979|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20505798|PMID:20513729|PMID:20530761|PMID:20542340|PMID:20560008|PMID:20594303|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:208206|PMID:208208|PMID:20851114|PMID:20864638|PMID:20975235|PMID:21088121|PMID:21158001|PMID:21165360|PMID:21185001|PMID:21185128|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21488308|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21915287|PMID:21939669|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22122802|PMID:22173300|PMID:22177269|PMID:22178992|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23418438|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23740383|PMID:23782526|PMID:23785128|PMID:23816408|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24327208|PMID:24440382|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24749114|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:24906243|PMID:25031304|PMID:25034069|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25262865|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159 8714363 Mybpc3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:25543971|PMID:25558701|PMID:25569433|PMID:25583989|PMID:2561168|PMID:25611685|PMID:25631583|PMID:25634555|PMID:25635128|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25741891|PMID:25849606|PMID:25856671|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26163040|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26271555|PMID:26272908|PMID:26332198|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26455666|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26497160|PMID:26633542|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26688388|PMID:26743238|PMID:26776584|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27114410|PMID:27135274|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27535533|PMID:27561770|PMID:27576561|PMID:27585509|PMID:27600940|PMID:27618852|PMID:27620334|PMID:27650965|PMID:27662471|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27884173|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28029522|PMID:28031081|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28254189|PMID:28255936|PMID:28265379|PMID:28301460|PMID:2832387|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28600387|PMID:28611029|PMID:28614222|PMID:2861529|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28747690|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28793143|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28843747|PMID:28855170|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29192238|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29255176|PMID:29300372|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29449720|PMID:29493010|PMID:29497013|PMID:29511324|PMID:29517769|PMID:29524613|PMID:29540445|PMID:29540472|PMID:29555771|PMID:29565423|PMID:29625023|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29758562|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29853478|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:29998127|PMID:30009132|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30282064|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30442288|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30554920|PMID:30586709|PMID:30600190|PMID:30609409|PMID:30611859|PMID:30615648|PMID:30645170|PMID:30665703|PMID:30669812|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30763825|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30959811|PMID:30972196|PMID:30984009|PMID:30985088|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31179125|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31323898|PMID:31333075|PMID:31376648|PMID:31397097|PMID:31402444|PMID:3140859|PMID:31424582|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31660989|PMID:31677916|PMID:31699567|PMID:31730716|PMID:31737537|PMID:31771441|PMID:31901299|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32034629|PMID:32041989|PMID:32101375|PMID:32123317|PMID:32163302|PMID:32183154|PMID:32228044|PMID:32233023|PMID:32250699|PMID:32268277|PMID:32341788|PMID:32355288|PMID:32356610|PMID:32369506|PMID:32380161|PMID:32396390|PMID:32420109|PMID:32451163|PMID:32461654|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501 8714363 Mybpc3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:32543992|PMID:32588587|PMID:32600061|PMID:32656747|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32826072|PMID:32830170|PMID:32841044|PMID:32880476|PMID:32888301|PMID:32901917|PMID:32917565|PMID:33029862|PMID:33035702|PMID:33087929|PMID:33148509|PMID:33190526|PMID:33232181|PMID:33241513|PMID:33258288|PMID:33297573|PMID:33302605|PMID:33325730|PMID:33407484|PMID:33432171|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33530161|PMID:33558530|PMID:33588347|PMID:33657327|PMID:33658040|PMID:33658374|PMID:33662488|PMID:33663232|PMID:33673806|PMID:33732734|PMID:33757590|PMID:33764162|PMID:33782553|PMID:33830315|PMID:33874732|PMID:33892289|PMID:33906374|PMID:33919104|PMID:33996946|PMID:34011823|PMID:34026292|PMID:34087240|PMID:34088380|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34310159|PMID:34389451|PMID:34395343|PMID:34400558|PMID:34426522|PMID:34428338|PMID:34540771|PMID:34542152|PMID:34555931|PMID:34556856|PMID:34598319|PMID:34601892|PMID:34667957|PMID:34680864|PMID:34694434|PMID:34769381|PMID:34785479|PMID:34816733|PMID:34819141|PMID:34853230|PMID:34915024|PMID:34935411|PMID:34949102|PMID:35026164|PMID:35027292|PMID:35176171|PMID:35199016|PMID:35200695|PMID:35208637|PMID:35227736|PMID:35265679|PMID:35284542|PMID:35288587|PMID:35304488|PMID:35411935|PMID:35470680|PMID:35470684|PMID:35508642|PMID:35535697|PMID:35581137|PMID:35581268|PMID:35626289|PMID:35629155|PMID:35653365|PMID:35753512|PMID:35838873|PMID:35885957|PMID:35934244|PMID:36082122|PMID:36136372|PMID:36140281|PMID:36166435|PMID:36178741|PMID:36203036|PMID:36252119|PMID:36264615|PMID:36291626|PMID:36293497|PMID:36328362|PMID:36352534|PMID:36357371|PMID:36580209|PMID:36588553|PMID:36660067|PMID:36704059|PMID:36788754|PMID:36835444|PMID:36980931|PMID:37089884|PMID:37178278|PMID:37194601|PMID:37431535|PMID:37466024|PMID:37477868|PMID:37498360|PMID:37589201|PMID:37652022|PMID:37844837|PMID:37937352|PMID:37937776|PMID:37963751|PMID:38002985|PMID:38296580|PMID:38489124|PMID:3852942|PMID:38540378|PMID:38757491|PMID:39481677|PMID:397516074|PMID:3980194|PMID:739990|PMID:747929|PMID:7493025|PMID:7493026|PMID:7786104|PMID:8533079|PMID:9048664|PMID:9241277|PMID:924849|PMID:925171|PMID:9503187|PMID:950554|PMID:9536098|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053 8714363 Mybpc3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10424815|PMID:10521296|PMID:10610770|PMID:10736283|PMID:11447480|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12379228|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12601548|PMID:12628722|PMID:12707239|PMID:12787675|PMID:12788380|PMID:12818575|PMID:12951062|PMID:12974739|PMID:1428680|PMID:14563344|PMID:14613868|PMID:14718142|PMID:15000344|PMID:15010274|PMID:1504154|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15671604|PMID:1572569|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16061003|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16352453|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17192269|PMID:17224687|PMID:17263690|PMID:17386157|PMID:17521870|PMID:17536430|PMID:17560888|PMID:17576681|PMID:17612681|PMID:17655857|PMID:17908752|PMID:17937428|PMID:17947214|PMID:18258667|PMID:18273486|PMID:18337725|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18803133|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19134269|PMID:19149795|PMID:19150014|PMID:19151713|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19632136|PMID:19659763|PMID:19666645|PMID:19694057|PMID:19808356|PMID:19858127|PMID:198863|PMID:19996403|PMID:20019025|PMID:20021930|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20201939|PMID:20215591|PMID:20359594|PMID:20378854|PMID:203962|PMID:203979|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20505798|PMID:20513729|PMID:20530761|PMID:20542340|PMID:20560008|PMID:20594303|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:208206|PMID:208208|PMID:20851114|PMID:20864638|PMID:20975235|PMID:21088121|PMID:21158001|PMID:21165360|PMID:21185001|PMID:21185128|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21488308|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21915287|PMID:21939669|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22122802|PMID:22173300|PMID:22177269|PMID:22178992|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23418438|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23740383|PMID:23782526|PMID:23785128|PMID:23816408|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24327208|PMID:24440382|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24749114|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:24906243|PMID:25031304|PMID:25034069|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25262865|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337 8714363 Mybpc3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:25583989|PMID:2561168|PMID:25611685|PMID:25631583|PMID:25634555|PMID:25635128|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25741891|PMID:25849606|PMID:25856671|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26163040|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26271555|PMID:26272908|PMID:26332198|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26455666|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26497160|PMID:26633542|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26688388|PMID:26743238|PMID:26776584|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27114410|PMID:27135274|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27535533|PMID:27561770|PMID:27576561|PMID:27585509|PMID:27600940|PMID:27618852|PMID:27620334|PMID:27650965|PMID:27662471|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27884173|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28029522|PMID:28031081|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28254189|PMID:28255936|PMID:28265379|PMID:28301460|PMID:2832387|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28600387|PMID:28611029|PMID:28614222|PMID:2861529|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28747690|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28793143|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28843747|PMID:28855170|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29192238|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29255176|PMID:29300372|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29449720|PMID:29493010|PMID:29497013|PMID:29511324|PMID:29517769|PMID:29524613|PMID:29540445|PMID:29540472|PMID:29555771|PMID:29565423|PMID:29625023|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29758562|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29853478|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:29998127|PMID:30009132|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30282064|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30442288|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30554920|PMID:30586709|PMID:30600190|PMID:30609409|PMID:30611859|PMID:30615648|PMID:30645170|PMID:30665703|PMID:30669812|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30763825|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30959811|PMID:30972196|PMID:30984009|PMID:30985088|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31179125|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31323898|PMID:31333075|PMID:31376648|PMID:31397097|PMID:31402444|PMID:3140859|PMID:31424582|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31660989|PMID:31677916|PMID:31699567|PMID:31730716|PMID:31737537|PMID:31771441|PMID:31901299|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32034629|PMID:32041989|PMID:32101375|PMID:32123317|PMID:32163302|PMID:32183154|PMID:32228044|PMID:32233023|PMID:32250699|PMID:32268277|PMID:32341788|PMID:32355288|PMID:32356610|PMID:32369506|PMID:32380161|PMID:32396390|PMID:32420109|PMID:32451163|PMID:32461654|PMID:32480058|PMID:32481709|PMID:32492895 8714363 Mybpc3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:32531501|PMID:32543992|PMID:32588587|PMID:32600061|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32826072|PMID:32830170|PMID:32841044|PMID:32880476|PMID:32888301|PMID:32901917|PMID:32917565|PMID:33029862|PMID:33035702|PMID:33087929|PMID:33148509|PMID:33190526|PMID:33232181|PMID:33241513|PMID:33258288|PMID:33297573|PMID:33302605|PMID:33325730|PMID:33407484|PMID:33432171|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33530161|PMID:33558530|PMID:33588347|PMID:33657327|PMID:33658040|PMID:33658374|PMID:33662488|PMID:33663232|PMID:33673806|PMID:33732734|PMID:33757590|PMID:33764162|PMID:33782553|PMID:33830315|PMID:33874732|PMID:33892289|PMID:33906374|PMID:33919104|PMID:33996946|PMID:34011823|PMID:34026292|PMID:34087240|PMID:34088380|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34310159|PMID:34389451|PMID:34395343|PMID:34400558|PMID:34426522|PMID:34428338|PMID:34540771|PMID:34542152|PMID:34555931|PMID:34556856|PMID:34598319|PMID:34601892|PMID:34667957|PMID:34680864|PMID:34694434|PMID:34769381|PMID:34785479|PMID:34816733|PMID:34819141|PMID:34853230|PMID:34915024|PMID:34935411|PMID:34949102|PMID:35026164|PMID:35027292|PMID:35176171|PMID:35199016|PMID:35200695|PMID:35208637|PMID:35227736|PMID:35257994|PMID:35265679|PMID:35284542|PMID:35288587|PMID:35304488|PMID:35411935|PMID:35470680|PMID:35470684|PMID:35508642|PMID:35535697|PMID:35581137|PMID:35581268|PMID:35626289|PMID:35629155|PMID:35653365|PMID:35753512|PMID:35838873|PMID:35885957|PMID:35934244|PMID:36082122|PMID:36136372|PMID:36140281|PMID:36166435|PMID:36178741|PMID:36203036|PMID:36252119|PMID:36264615|PMID:36291626|PMID:36293497|PMID:36328362|PMID:36352534|PMID:36357371|PMID:36580209|PMID:36588553|PMID:36660067|PMID:36704059|PMID:36788754|PMID:36835444|PMID:36980931|PMID:37089884|PMID:37178278|PMID:37194601|PMID:37431535|PMID:37466024|PMID:37477868|PMID:37498360|PMID:37589201|PMID:37652022|PMID:37750083|PMID:37844837|PMID:37937352|PMID:37937776|PMID:37963751|PMID:38002985|PMID:38296580|PMID:38489124|PMID:3852942|PMID:38540378|PMID:38757491|PMID:39001760|PMID:39481677|PMID:397516074|PMID:3980194|PMID:739990|PMID:747929|PMID:7493025|PMID:7493026|PMID:7786104|PMID:8533079|PMID:9048664|PMID:9241277|PMID:924849|PMID:925171|PMID:9503187|PMID:950554|PMID:9536098|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053 8714363 Mybpc3 myosin binding protein C3 gene DOID:0060319 cardiac arrest ISO RGD:1314284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrest PMID:14563344|PMID:15519027|PMID:16352453|PMID:20624503|PMID:22361390|PMID:23140321|PMID:23299917|PMID:23785128|PMID:24033266|PMID:24503780|PMID:24510615|PMID:25163546|PMID:25741868|PMID:28492532|PMID:33035702 8714363 Mybpc3 myosin binding protein C3 gene DOID:0060480 left ventricular noncompaction ISO RGD:1314284 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction PMID:14563344|PMID:15519027|PMID:16061003|PMID:16352453|PMID:17560888|PMID:18533079|PMID:18929575|PMID:19574547|PMID:19666645|PMID:19808356|PMID:20019025|PMID:20031619|PMID:20045868|PMID:20624503|PMID:21511876|PMID:21939669|PMID:22115648|PMID:22361390|PMID:22455086|PMID:22464770|PMID:23140321|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23674513|PMID:23711808|PMID:23740383|PMID:23785128|PMID:24033266|PMID:24503780|PMID:24510615|PMID:25132132|PMID:25163546|PMID:25351510|PMID:25611685|PMID:25741868|PMID:25856671|PMID:26090888|PMID:26163040|PMID:27532257|PMID:27841901|PMID:28031081|PMID:28193612|PMID:28202948|PMID:28323875|PMID:28492532|PMID:28518168|PMID:28640247|PMID:28679633|PMID:29121657|PMID:29398688|PMID:29555771|PMID:29907873|PMID:30188508|PMID:30297972|PMID:30847666|PMID:31028938|PMID:31699567|PMID:31918855|PMID:32380161|PMID:32492895|PMID:32600061|PMID:32841044|PMID:33035702|PMID:33782553|PMID:33830315|PMID:34853230|PMID:35284542 8714363 Mybpc3 myosin binding protein C3 gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:1314284 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:24033266|PMID:24510615|PMID:25741868|PMID:28492532|PMID:28600387|PMID:29255176|PMID:37652022 8714363 Mybpc3 myosin binding protein C3 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1314284 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:24033266|PMID:25741868|PMID:28492532|PMID:28600387 8714363 Mybpc3 myosin binding protein C3 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1314284 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 8714363 Mybpc3 myosin binding protein C3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1314284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17560888|PMID:17576681|PMID:17908752|PMID:18258667|PMID:18273486|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19150014|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19659763|PMID:19808356|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20215591|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20474083|PMID:20505798|PMID:20530761|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:20864638|PMID:21088121|PMID:21185001|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21499742|PMID:21511876|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21817903|PMID:21832025|PMID:21832052|PMID:21835320|PMID:21839045|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22115648|PMID:22173300|PMID:22177269|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23782526|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25262865|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25558701|PMID:25569433|PMID:25611685|PMID:25631583|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25971843|PMID:26090888|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26332198|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26654849|PMID:26671970|PMID:26688216|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27153395|PMID:27194543|PMID:27267291|PMID:2732257|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27618852|PMID:27620334|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28166811|PMID:28193612|PMID:28214152|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763 8714363 Mybpc3 myosin binding protein C3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1314284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28807990|PMID:28824454|PMID:28916354|PMID:28971120|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29247119|PMID:29367541|PMID:2943217|PMID:29447731|PMID:29451820|PMID:29497013|PMID:29540445|PMID:29555771|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29709087|PMID:29710196|PMID:29773157|PMID:29875314|PMID:29875424|PMID:29988065|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30297972|PMID:30446606|PMID:30550750|PMID:30645170|PMID:30696458|PMID:30731207|PMID:30762279|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31199839|PMID:31333075|PMID:31513939|PMID:31568572|PMID:31737537|PMID:32009526|PMID:32163302|PMID:32451163|PMID:32746448|PMID:32880476|PMID:33673806|PMID:34097875|PMID:34137518|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9562578|PMID:9631872|PMID:9742053 8714363 Mybpc3 myosin binding protein C3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1314284 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17560888|PMID:17576681|PMID:17908752|PMID:18258667|PMID:18273486|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19150014|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19659763|PMID:19808356|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20215591|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20474083|PMID:20505798|PMID:20530761|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:20864638|PMID:21088121|PMID:21185001|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21499742|PMID:21511876|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21817903|PMID:21832025|PMID:21832052|PMID:21835320|PMID:21839045|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22115648|PMID:22173300|PMID:22177269|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23782526|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25262865|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25558701|PMID:25569433|PMID:25611685|PMID:25631583|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25971843|PMID:26090888|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26332198|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26654849|PMID:26671970|PMID:26688216|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27153395|PMID:27194543|PMID:27267291|PMID:2732257|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27618852|PMID:27620334|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28166811|PMID:28193612|PMID:28214152|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168 8714363 Mybpc3 myosin binding protein C3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1314284 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:28538763|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28807990|PMID:28824454|PMID:28916354|PMID:28971120|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29367541|PMID:2943217|PMID:29447731|PMID:29451820|PMID:29497013|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29773157|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29988065|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30609409|PMID:30645170|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31199839|PMID:31293105|PMID:31333075|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31980526|PMID:32009526|PMID:32123317|PMID:32163302|PMID:32451163|PMID:32480058|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32880476|PMID:33190526|PMID:33258288|PMID:33673806|PMID:34097875|PMID:34135346|PMID:34137518|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9562578|PMID:9631872|PMID:9742053 8714363 Mybpc3 myosin binding protein C3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1314284 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28916354|PMID:28971120|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29367541|PMID:2943217|PMID:29447731|PMID:29451820|PMID:29497013|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29773157|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29988065|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31199839|PMID:31293105|PMID:31333075|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31931689|PMID:31980526|PMID:32009526|PMID:32123317|PMID:32163302|PMID:32451163|PMID:32480058|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32880476|PMID:33190526|PMID:33258288|PMID:33673806|PMID:33782553|PMID:34097875|PMID:34135346|PMID:34137518|PMID:35535697|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9562578|PMID:9631872|PMID:9742053 8714363 Mybpc3 myosin binding protein C3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1314284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:28214152|PMID:28241245|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29451820|PMID:29497013|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31333075|PMID:31376648|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31737537|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32123317|PMID:32163302|PMID:32250699|PMID:32341788|PMID:32420109|PMID:32451163|PMID:32480058|PMID:32492895|PMID:32531501|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32841044|PMID:32880476|PMID:33003980|PMID:33029862|PMID:33087929|PMID:33190526|PMID:33258288|PMID:33297573|PMID:33407484|PMID:33495596|PMID:33495597|PMID:33673806|PMID:33782553|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34389451|PMID:34588271|PMID:35535697|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9562578|PMID:9631872|PMID:9742053 8714363 Mybpc3 myosin binding protein C3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1314284 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:27930701|PMID:28024942|PMID:28029522|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28193612|PMID:28214152|PMID:28241245|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29451820|PMID:29497013|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31333075|PMID:31376648|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31737537|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32123317|PMID:32163302|PMID:32250699|PMID:32341788|PMID:32380161|PMID:32420109|PMID:32451163|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32830170|PMID:32841044|PMID:32880476|PMID:33003980|PMID:33029862|PMID:33087929|PMID:33190526|PMID:33258288|PMID:33297573|PMID:33407484|PMID:33495596|PMID:33495597|PMID:33673806|PMID:33782553|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34389451|PMID:34426522|PMID:34542152|PMID:34588271|PMID:34598319|PMID:34935411|PMID:35208637|PMID:35535697|PMID:35626289|PMID:35629155|PMID:35653365|PMID:36588553|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9562578|PMID:9631872|PMID:9742053 8714363 Mybpc3 myosin binding protein C3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1314284 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:27930701|PMID:28024942|PMID:28029522|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28193612|PMID:28214152|PMID:28241245|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29451820|PMID:29497013|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31333075|PMID:31376648|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31737537|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32123317|PMID:32163302|PMID:32250699|PMID:32341788|PMID:32380161|PMID:32420109|PMID:32451163|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32830170|PMID:32841044|PMID:32880476|PMID:33003980|PMID:33029862|PMID:33087929|PMID:33190526|PMID:33258288|PMID:33297573|PMID:33407484|PMID:33495596|PMID:33495597|PMID:33673806|PMID:33782553|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34389451|PMID:34426522|PMID:34542152|PMID:34588271|PMID:34598319|PMID:34935411|PMID:35208637|PMID:35535697|PMID:35626289|PMID:35629155|PMID:35653365|PMID:36588553|PMID:397516074|PMID:3980194|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9562578|PMID:9631872|PMID:9742053 8714363 Mybpc3 myosin binding protein C3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1314284 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:27834932|PMID:27841901|PMID:27884173|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28029522|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28193612|PMID:28214152|PMID:28241245|PMID:28254189|PMID:2832387|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29451820|PMID:29497013|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30554920|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30763825|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31333075|PMID:31376648|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31737537|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32101375|PMID:32123317|PMID:32163302|PMID:32228044|PMID:32250699|PMID:32341788|PMID:32369506|PMID:32380161|PMID:32420109|PMID:32451163|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32588587|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32830170|PMID:32841044|PMID:32880476|PMID:33003980|PMID:33029862|PMID:33087929|PMID:33190526|PMID:33241513|PMID:33258288|PMID:33297573|PMID:33302605|PMID:33407484|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33658040|PMID:33658374|PMID:33662488|PMID:33663232|PMID:33673806|PMID:33782553|PMID:33906374|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34389451|PMID:34400558|PMID:34426522|PMID:34542152|PMID:34588271|PMID:34598319|PMID:34935411|PMID:35026164|PMID:35027292|PMID:35199016|PMID:35200695|PMID:35208637|PMID:35265679|PMID:35284542|PMID:35288587|PMID:35508642|PMID:35535697|PMID:35581137|PMID:35626289|PMID:35629155|PMID:35653365|PMID:36082122|PMID:36166435|PMID:36178741|PMID:36264615|PMID:36291626|PMID:36357371|PMID:36588553|PMID:37178278|PMID:37477868|PMID:37589201|PMID:397516074|PMID:3980194|PMID:739990|PMID:747929|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9562578|PMID:9631872|PMID:9742053 8714363 Mybpc3 myosin binding protein C3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1314284 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15671604|PMID:1572569|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17224687|PMID:17560888|PMID:17576681|PMID:17908752|PMID:18258667|PMID:18273486|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19150014|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19659763|PMID:19808356|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20215591|PMID:20359594|PMID:20378854|PMID:203962|PMID:203979|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20474083|PMID:20505798|PMID:20530761|PMID:20542340|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:208206|PMID:208208|PMID:20864638|PMID:21088121|PMID:21185001|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21499742|PMID:21511876|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21817903|PMID:21832025|PMID:21832052|PMID:21835320|PMID:21839045|PMID:21890325|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22173300|PMID:22177269|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23782526|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25262865|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:25611685|PMID:25631583|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26271555|PMID:26332198|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26654849|PMID:26671970|PMID:26688216|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27135274|PMID:27153395|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27620334|PMID:27650965|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900 8714363 Mybpc3 myosin binding protein C3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1314284 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:27834932|PMID:27841901|PMID:27884173|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28029522|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28193612|PMID:28214152|PMID:28241245|PMID:28254189|PMID:2832387|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29451820|PMID:29497013|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30554920|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30763825|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31333075|PMID:31376648|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31737537|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32101375|PMID:32123317|PMID:32163302|PMID:32228044|PMID:32250699|PMID:32341788|PMID:32369506|PMID:32380161|PMID:32420109|PMID:32451163|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32588587|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32830170|PMID:32841044|PMID:32880476|PMID:33003980|PMID:33029862|PMID:33087929|PMID:33190526|PMID:33241513|PMID:33258288|PMID:33297573|PMID:33302605|PMID:33407484|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33658040|PMID:33658374|PMID:33662488|PMID:33663232|PMID:33673806|PMID:33782553|PMID:33906374|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34389451|PMID:34400558|PMID:34426522|PMID:34542152|PMID:34588271|PMID:34598319|PMID:34935411|PMID:35026164|PMID:35027292|PMID:35199016|PMID:35200695|PMID:35208637|PMID:35265679|PMID:35284542|PMID:35288587|PMID:35508642|PMID:35535697|PMID:35581137|PMID:35626289|PMID:35629155|PMID:35653365|PMID:36082122|PMID:36166435|PMID:36178741|PMID:36252119|PMID:36264615|PMID:36291626|PMID:36357371|PMID:36588553|PMID:37178278|PMID:37477868|PMID:37589201|PMID:397516074|PMID:3980194|PMID:739990|PMID:747929|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9562578|PMID:9631872|PMID:9742053 8714363 Mybpc3 myosin binding protein C3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1314284 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:27650965|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27884173|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28029522|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28193612|PMID:28214152|PMID:28241245|PMID:28254189|PMID:2832387|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28614222|PMID:2861529|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29300372|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29451820|PMID:29497013|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29709087|PMID:29710196|PMID:29758562|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30554920|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30763825|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31333075|PMID:31376648|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31737537|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32101375|PMID:32123317|PMID:32163302|PMID:32228044|PMID:32250699|PMID:32341788|PMID:32369506|PMID:32380161|PMID:32420109|PMID:32451163|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32588587|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32830170|PMID:32841044|PMID:32880476|PMID:33029862|PMID:33087929|PMID:33190526|PMID:33241513|PMID:33258288|PMID:33297573|PMID:33302605|PMID:33407484|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33658040|PMID:33658374|PMID:33662488|PMID:33663232|PMID:33673806|PMID:33782553|PMID:33906374|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34389451|PMID:34400558|PMID:34426522|PMID:34542152|PMID:34588271|PMID:34598319|PMID:34935411|PMID:35026164|PMID:35027292|PMID:35199016|PMID:35200695|PMID:35208637|PMID:35265679|PMID:35284542|PMID:35288587|PMID:35470680|PMID:35508642|PMID:35535697|PMID:35581137|PMID:35626289|PMID:35629155|PMID:35653365|PMID:36082122|PMID:36136372|PMID:36166435|PMID:36178741|PMID:36252119|PMID:36264615|PMID:36291626|PMID:36357371|PMID:36588553|PMID:36704059|PMID:37178278|PMID:37431535|PMID:37477868|PMID:37589201|PMID:397516074|PMID:3980194|PMID:739990|PMID:747929|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9562578|PMID:9631872|PMID:9742053 8714363 Mybpc3 myosin binding protein C3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1314284 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15671604|PMID:1572569|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17192269|PMID:17224687|PMID:17560888|PMID:17576681|PMID:17908752|PMID:17937428|PMID:18258667|PMID:18273486|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19150014|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19659763|PMID:19808356|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20215591|PMID:20359594|PMID:20378854|PMID:203962|PMID:203979|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20474083|PMID:20505798|PMID:20530761|PMID:20542340|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:208206|PMID:208208|PMID:20851114|PMID:20864638|PMID:21088121|PMID:21158001|PMID:21185001|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21488308|PMID:21499742|PMID:21511876|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21817903|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21890325|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22173300|PMID:22177269|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23782526|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25228707|PMID:25262865|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:25611685|PMID:25631583|PMID:25634555|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25741891|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26271555|PMID:26332198|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26743238|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27114410|PMID:27135274|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27418595|PMID:27435932 8714363 Mybpc3 myosin binding protein C3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1314284 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:27476098|PMID:27483260|PMID:27532257|PMID:27535533|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27618852|PMID:27620334|PMID:27650965|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27884173|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28029522|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28193612|PMID:28214152|PMID:28241245|PMID:28254189|PMID:2832387|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28614222|PMID:2861529|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29300372|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29451820|PMID:29497013|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29625023|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29709087|PMID:29710196|PMID:29758562|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:30009132|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30554920|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30763825|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31333075|PMID:31376648|PMID:31424582|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31737537|PMID:31771441|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32101375|PMID:32123317|PMID:32163302|PMID:32228044|PMID:32250699|PMID:32341788|PMID:32369506|PMID:32380161|PMID:32420109|PMID:32451163|PMID:32461654|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32588587|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32830170|PMID:32841044|PMID:32880476|PMID:33029862|PMID:33087929|PMID:33190526|PMID:33241513|PMID:33258288|PMID:33297573|PMID:33302605|PMID:33407484|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33558530|PMID:33658040|PMID:33658374|PMID:33662488|PMID:33663232|PMID:33673806|PMID:33732734|PMID:33782553|PMID:33874732|PMID:33906374|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34389451|PMID:34400558|PMID:34426522|PMID:34542152|PMID:34556856|PMID:34588271|PMID:34598319|PMID:34601892|PMID:34680864|PMID:34935411|PMID:35026164|PMID:35027292|PMID:35176171|PMID:35199016|PMID:35200695|PMID:35208637|PMID:35265679|PMID:35284542|PMID:35288587|PMID:35470680|PMID:35508642|PMID:35535697|PMID:35581137|PMID:35626289|PMID:35629155|PMID:35653365|PMID:36082122|PMID:36136372|PMID:36140281|PMID:36166435|PMID:36178741|PMID:36252119|PMID:36264615|PMID:36291626|PMID:36357371|PMID:36588553|PMID:36704059|PMID:37089884|PMID:37178278|PMID:37194601|PMID:37431535|PMID:37466024|PMID:37477868|PMID:37498360|PMID:37589201|PMID:37652022|PMID:37844837|PMID:37937776|PMID:38002985|PMID:38489124|PMID:38540378|PMID:38757491|PMID:39481677|PMID:397516074|PMID:3980194|PMID:739990|PMID:747929|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9562578|PMID:9631872|PMID:9742053 8714363 Mybpc3 myosin binding protein C3 gene DOID:0081158 dilated cardiomyopathy 1MM ISO RGD:1314284 D RGD:7240710 20180130 OMIM 8714363 Mybpc3 myosin binding protein C3 gene DOID:0081158 dilated cardiomyopathy 1MM ISO RGD:1314284 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, dilated, 1MM | ClinVar Annotator: match by term: Left ventricular noncompaction 10 PMID:10424815|PMID:10521296|PMID:10610770|PMID:10736283|PMID:11447480|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12379228|PMID:12386147|PMID:12566107|PMID:12601548|PMID:12628722|PMID:12707239|PMID:12787675|PMID:12788380|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15671604|PMID:1572569|PMID:15769446|PMID:15936968|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16352453|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17192269|PMID:17224687|PMID:17536430|PMID:17560888|PMID:17576681|PMID:17908752|PMID:17937428|PMID:18258667|PMID:18273486|PMID:18337725|PMID:18374358|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19150014|PMID:19151713|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19632136|PMID:19659763|PMID:19808356|PMID:198863|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20045868|PMID:20051424|PMID:20159828|PMID:20173211|PMID:20201939|PMID:20215591|PMID:20359594|PMID:20378854|PMID:203962|PMID:203979|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20474083|PMID:20505798|PMID:20530761|PMID:20542340|PMID:20594303|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:208206|PMID:20864638|PMID:21158001|PMID:21185001|PMID:21185128|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21915287|PMID:21939669|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22173300|PMID:22177269|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22555271|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23418438|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23740383|PMID:23782526|PMID:23785128|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24327208|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:25031304|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25132132|PMID:25163546|PMID:25262865|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:25583989|PMID:25611685|PMID:25631583|PMID:25634555|PMID:25635128|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25856671|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26163040|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26271555|PMID:26332198|PMID:26332594|PMID:26383716|PMID:26455666|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26743238|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27114410|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27217341|PMID:27267291|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940 8714363 Mybpc3 myosin binding protein C3 gene DOID:0081158 dilated cardiomyopathy 1MM ISO RGD:1314284 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, dilated, 1MM | ClinVar Annotator: match by term: Left ventricular noncompaction 10 PMID:27618852|PMID:27650965|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27884173|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28031081|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28254189|PMID:28255936|PMID:2832387|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:2861529|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28747690|PMID:28749478|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28843747|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29255176|PMID:29300372|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29449720|PMID:29451820|PMID:29511324|PMID:29524613|PMID:29540445|PMID:29540472|PMID:29555771|PMID:29565423|PMID:29625023|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29710196|PMID:29758562|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29853478|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:30009132|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30282064|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30554920|PMID:30609409|PMID:30615648|PMID:30645170|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30924982|PMID:30959811|PMID:30972196|PMID:30984009|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31308319|PMID:31323898|PMID:31376648|PMID:31424582|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31589614|PMID:31699567|PMID:31737537|PMID:31771441|PMID:31901299|PMID:31918855|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32034629|PMID:32123317|PMID:32163302|PMID:32183154|PMID:32228044|PMID:32233023|PMID:32250699|PMID:32356610|PMID:32369506|PMID:32380161|PMID:32396390|PMID:32461654|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32543992|PMID:32600061|PMID:32686758|PMID:32710830|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32826072|PMID:32830170|PMID:32841044|PMID:32880476|PMID:32917565|PMID:33035702|PMID:33190526|PMID:33241513|PMID:33258288|PMID:33302605|PMID:33407484|PMID:33432171|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33558530|PMID:33657327|PMID:33658040|PMID:33673806|PMID:33782553|PMID:3378553|PMID:33830315|PMID:33892289|PMID:33906374|PMID:33919104|PMID:34088380|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34310159|PMID:34389451|PMID:34400558|PMID:34426522|PMID:34428338|PMID:34540771|PMID:34542152|PMID:34555931|PMID:34598319|PMID:34680864|PMID:34816733|PMID:34819141|PMID:34853230|PMID:34915024|PMID:34935411|PMID:35026164|PMID:35027292|PMID:35176171|PMID:35199016|PMID:35200695|PMID:35208637|PMID:35265679|PMID:35284542|PMID:35288587|PMID:35411935|PMID:35470680|PMID:35508642|PMID:35535697|PMID:35581137|PMID:35581268|PMID:35626289|PMID:35629155|PMID:35653365|PMID:35838873|PMID:35885957|PMID:35934244|PMID:36136372|PMID:36166435|PMID:36178741|PMID:36252119|PMID:36264615|PMID:36291626|PMID:36357371|PMID:36580209|PMID:36704059|PMID:36788754|PMID:36980931|PMID:37089884|PMID:37431535|PMID:37466024|PMID:37477868|PMID:37498360|PMID:37589201|PMID:37652022|PMID:37844837|PMID:37937776|PMID:38002985|PMID:38489124|PMID:38540378|PMID:38757491|PMID:39001760|PMID:397516074|PMID:3980194|PMID:747929|PMID:7493025|PMID:7493026|PMID:7786104|PMID:8533079|PMID:9048664|PMID:9503187|PMID:950554|PMID:9536098|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053 8714363 Mybpc3 myosin binding protein C3 gene DOID:0110070 arrhythmogenic right ventricular dysplasia 1 ISO RGD:1314284 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 PMID:15519027|PMID:17192269|PMID:18533079|PMID:20173211|PMID:20414521|PMID:20624503|PMID:21415409|PMID:21835320|PMID:22765922|PMID:23233322|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24093860|PMID:25524337|PMID:25637381|PMID:25741868|PMID:25971843|PMID:26090888|PMID:27267291|PMID:28420666|PMID:28492532|PMID:28518168|PMID:30446606|PMID:30645170|PMID:30731207|PMID:30871747|PMID:30972196|PMID:32369506|PMID:35470680|PMID:37431535|PMID:37652022 8714363 Mybpc3 myosin binding protein C3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1314284 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11815426|PMID:11847170|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17560888|PMID:17576681|PMID:17908752|PMID:18273486|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19134269|PMID:19150014|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19659763|PMID:19808356|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20045868|PMID:20051424|PMID:20159828|PMID:20173211|PMID:20215591|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20474083|PMID:20505798|PMID:20530761|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:20864638|PMID:21088121|PMID:21185001|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21499742|PMID:21511876|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835320|PMID:21839045|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22115648|PMID:22173300|PMID:22177269|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23782526|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:25031304|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25163546|PMID:25214167|PMID:25262865|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25558701|PMID:25569433|PMID:2561168|PMID:25611685|PMID:25631583|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25971843|PMID:26090888|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26654849|PMID:26671970|PMID:26688216|PMID:26822237|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27153395|PMID:27194543|PMID:27267291|PMID:2732257|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27620334|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28166811|PMID:28193612|PMID:28214152|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28807990|PMID:28824454|PMID:28916354|PMID:28971120|PMID:29029073|PMID:29030401|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29367541|PMID:2943217|PMID:29447731 8714363 Mybpc3 myosin binding protein C3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1314284 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:29451820|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29663722|PMID:29686099|PMID:29759671|PMID:29790872|PMID:29875314|PMID:29875424|PMID:30025578|PMID:30165862|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30609409|PMID:30645170|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31199839|PMID:31333075|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31980526|PMID:32009526|PMID:32123317|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32880476|PMID:33190526|PMID:33258288|PMID:33673806|PMID:34097875|PMID:34135346|PMID:34137518|PMID:397516074|PMID:7493025|PMID:7493026|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9562578|PMID:9631872|PMID:9742053 8714363 Mybpc3 myosin binding protein C3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1314284 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11815426|PMID:11847170|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17560888|PMID:17576681|PMID:17908752|PMID:18273486|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19134269|PMID:19150014|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19659763|PMID:19808356|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20045868|PMID:20051424|PMID:20159828|PMID:20173211|PMID:20215591|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20474083|PMID:20505798|PMID:20530761|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:20864638|PMID:21088121|PMID:21185001|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21499742|PMID:21511876|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835320|PMID:21839045|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22115648|PMID:22173300|PMID:22177269|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23782526|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:25031304|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25163546|PMID:25214167|PMID:25262865|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:2561168|PMID:25611685|PMID:25631583|PMID:25637381|PMID:25640679|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25971843|PMID:26090888|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26654849|PMID:26671970|PMID:26688216|PMID:26822237|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27153395|PMID:27194543|PMID:27267291|PMID:2732257|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27620334|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28166811|PMID:28193612|PMID:28214152|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28807990|PMID:28824454|PMID:28916354|PMID:28971120|PMID:29029073|PMID:29030401|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29367541|PMID:2943217 8714363 Mybpc3 myosin binding protein C3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1314284 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:29447731|PMID:29451820|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29663722|PMID:29686099|PMID:29759671|PMID:29790872|PMID:29875314|PMID:29875424|PMID:30025578|PMID:30165862|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30609409|PMID:30645170|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31199839|PMID:31333075|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31980526|PMID:32009526|PMID:32123317|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32880476|PMID:33190526|PMID:33258288|PMID:33673806|PMID:33782553|PMID:34097875|PMID:34135346|PMID:34137518|PMID:35535697|PMID:397516074|PMID:7493025|PMID:7493026|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9562578|PMID:9631872|PMID:9742053 8714363 Mybpc3 myosin binding protein C3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1314284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29451820|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31333075|PMID:31376648|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31737537|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32123317|PMID:32163302|PMID:32250699|PMID:32341788|PMID:32420109|PMID:32451163|PMID:32492895|PMID:32531501|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32841044|PMID:32880476|PMID:33003980|PMID:33029862|PMID:33087929|PMID:33190526|PMID:33258288|PMID:33297573|PMID:33407484|PMID:33495596|PMID:33495597|PMID:33673806|PMID:33782553|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34389451|PMID:34588271|PMID:35535697|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9562578|PMID:9631872|PMID:9742053 8714363 Mybpc3 myosin binding protein C3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1314284 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17224687|PMID:17560888|PMID:17576681|PMID:17908752|PMID:18258667|PMID:18273486|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19134269|PMID:19150014|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19659763|PMID:19808356|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20045868|PMID:20051424|PMID:20159828|PMID:20173211|PMID:20215591|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20474083|PMID:20505798|PMID:20530761|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:20864638|PMID:21088121|PMID:21185001|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21499742|PMID:21511876|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835320|PMID:21839045|PMID:21890325|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22173300|PMID:22177269|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23782526|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25163546|PMID:25214167|PMID:25262865|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:2561168|PMID:25611685|PMID:25631583|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26271555|PMID:26332198|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26822237|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27135274|PMID:27153395|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27620334|PMID:27650965|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27884173|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28193612|PMID:28214152|PMID:28241245|PMID:28323875|PMID:28356264 8714363 Mybpc3 myosin binding protein C3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1314284 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29451820|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31333075|PMID:31376648|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31737537|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32123317|PMID:32163302|PMID:32250699|PMID:32341788|PMID:32420109|PMID:32451163|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32830170|PMID:32841044|PMID:32880476|PMID:33003980|PMID:33029862|PMID:33087929|PMID:33190526|PMID:33258288|PMID:33297573|PMID:33407484|PMID:33495596|PMID:33495597|PMID:33673806|PMID:33782553|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34389451|PMID:34426522|PMID:34542152|PMID:34588271|PMID:34598319|PMID:34935411|PMID:35208637|PMID:35535697|PMID:35626289|PMID:35653365|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9562578|PMID:9631872|PMID:9742053 8714363 Mybpc3 myosin binding protein C3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1314284 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15671604|PMID:1572569|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17224687|PMID:17560888|PMID:17576681|PMID:17908752|PMID:18258667|PMID:18273486|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19134269|PMID:19150014|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19659763|PMID:19808356|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20045868|PMID:20051424|PMID:20159828|PMID:20173211|PMID:20215591|PMID:20359594|PMID:20378854|PMID:203962|PMID:203979|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20474083|PMID:20505798|PMID:20530761|PMID:20542340|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:208206|PMID:208208|PMID:20864638|PMID:21088121|PMID:21185001|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21499742|PMID:21511876|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21817903|PMID:21832025|PMID:21832052|PMID:21835320|PMID:21839045|PMID:21890325|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22173300|PMID:22177269|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23782526|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25163546|PMID:25214167|PMID:25262865|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:2561168|PMID:25611685|PMID:25631583|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26271555|PMID:26332198|PMID:26332594|PMID:26383716|PMID:26455666|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26822237|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27135274|PMID:27153395|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27620334|PMID:27650965|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27884173|PMID:27885498|PMID:27896284 8714363 Mybpc3 myosin binding protein C3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1314284 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:27930701|PMID:28024942|PMID:28029522|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28193612|PMID:28214152|PMID:28241245|PMID:28254189|PMID:2832387|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29451820|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30554920|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31333075|PMID:31376648|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31737537|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32123317|PMID:32163302|PMID:32228044|PMID:32250699|PMID:32341788|PMID:32369506|PMID:32380161|PMID:32420109|PMID:32451163|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32830170|PMID:32841044|PMID:32880476|PMID:33003980|PMID:33029862|PMID:33087929|PMID:33148509|PMID:33190526|PMID:33241513|PMID:33258288|PMID:33297573|PMID:33407484|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33658040|PMID:33663232|PMID:33673806|PMID:33782553|PMID:33906374|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34310159|PMID:34389451|PMID:34400558|PMID:34426522|PMID:34542152|PMID:34588271|PMID:34598319|PMID:34935411|PMID:35026164|PMID:35027292|PMID:35199016|PMID:35200695|PMID:35208637|PMID:35265679|PMID:35284542|PMID:35411935|PMID:35508642|PMID:35535697|PMID:35581137|PMID:35581268|PMID:35626289|PMID:35629155|PMID:35653365|PMID:36166435|PMID:36178741|PMID:36203036|PMID:36252119|PMID:36291626|PMID:36357371|PMID:36588553|PMID:37178278|PMID:37477868|PMID:397516074|PMID:3980194|PMID:739990|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9562578|PMID:9631872|PMID:9742053 8714363 Mybpc3 myosin binding protein C3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1314284 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:27650965|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27884173|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28029522|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28193612|PMID:28214152|PMID:28241245|PMID:28254189|PMID:2832387|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:2861529|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29300372|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29451820|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29709087|PMID:29710196|PMID:29758562|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30554920|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30763825|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31333075|PMID:31376648|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31737537|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32101375|PMID:32123317|PMID:32163302|PMID:32228044|PMID:32250699|PMID:32341788|PMID:32369506|PMID:32380161|PMID:32420109|PMID:32451163|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32588587|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32830170|PMID:32841044|PMID:32880476|PMID:33029862|PMID:33087929|PMID:33148509|PMID:33190526|PMID:33241513|PMID:33258288|PMID:33297573|PMID:33302605|PMID:33407484|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33658040|PMID:33662488|PMID:33663232|PMID:33673806|PMID:33782553|PMID:33906374|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34310159|PMID:34389451|PMID:34400558|PMID:34426522|PMID:34542152|PMID:34588271|PMID:34598319|PMID:34935411|PMID:35026164|PMID:35027292|PMID:35199016|PMID:35200695|PMID:35208637|PMID:35265679|PMID:35284542|PMID:35288587|PMID:35411935|PMID:35470680|PMID:35508642|PMID:35535697|PMID:35581137|PMID:35581268|PMID:35626289|PMID:35629155|PMID:35653365|PMID:36136372|PMID:36166435|PMID:36178741|PMID:36203036|PMID:36252119|PMID:36264615|PMID:36291626|PMID:36357371|PMID:36588553|PMID:36704059|PMID:37178278|PMID:37431535|PMID:37477868|PMID:37589201|PMID:397516074|PMID:3980194|PMID:739990|PMID:747929|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9562578|PMID:9631872|PMID:9742053 8714363 Mybpc3 myosin binding protein C3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1314284 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15671604|PMID:1572569|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17192269|PMID:17224687|PMID:17560888|PMID:17576681|PMID:17908752|PMID:17937428|PMID:18258667|PMID:18273486|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19134269|PMID:19150014|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19659763|PMID:19808356|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20045868|PMID:20051424|PMID:20159828|PMID:20173211|PMID:20215591|PMID:20359594|PMID:20378854|PMID:203962|PMID:203979|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20474083|PMID:20505798|PMID:20530761|PMID:20542340|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:208206|PMID:208208|PMID:20864638|PMID:21088121|PMID:21158001|PMID:21185001|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21499742|PMID:21511876|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21817903|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21890325|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22173300|PMID:22177269|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22515980|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23782526|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25228707|PMID:25262865|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:2561168|PMID:25611685|PMID:25631583|PMID:25634555|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26271555|PMID:26332198|PMID:26332594|PMID:26383716|PMID:26455666|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27114410|PMID:27135274|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27535533 8714363 Mybpc3 myosin binding protein C3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1314284 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:27561770|PMID:27576561|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27620334|PMID:27650965|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27884173|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28029522|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28193612|PMID:28214152|PMID:28241245|PMID:28254189|PMID:2832387|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:2861529|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29300372|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29451820|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29625023|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29709087|PMID:29710196|PMID:29758562|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:30009132|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30554920|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30763825|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31333075|PMID:31376648|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31737537|PMID:31771441|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32101375|PMID:32123317|PMID:32163302|PMID:32228044|PMID:32250699|PMID:32341788|PMID:32369506|PMID:32380161|PMID:32420109|PMID:32451163|PMID:32461654|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32588587|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32830170|PMID:32841044|PMID:32880476|PMID:33029862|PMID:33087929|PMID:33148509|PMID:33190526|PMID:33241513|PMID:33258288|PMID:33297573|PMID:33302605|PMID:33407484|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33558530|PMID:33658040|PMID:33662488|PMID:33663232|PMID:33673806|PMID:33732734|PMID:33782553|PMID:33906374|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34310159|PMID:34389451|PMID:34400558|PMID:34426522|PMID:34542152|PMID:34588271|PMID:34598319|PMID:34935411|PMID:35026164|PMID:35027292|PMID:35199016|PMID:35200695|PMID:35208637|PMID:35265679|PMID:35284542|PMID:35288587|PMID:35411935|PMID:35470680|PMID:35508642|PMID:35535697|PMID:35581137|PMID:35581268|PMID:35626289|PMID:35629155|PMID:35653365|PMID:36136372|PMID:36166435|PMID:36178741|PMID:36203036|PMID:36252119|PMID:36264615|PMID:36291626|PMID:36357371|PMID:36588553|PMID:36704059|PMID:37178278|PMID:37431535|PMID:37477868|PMID:37589201|PMID:37652022|PMID:37937776|PMID:397516074|PMID:3980194|PMID:739990|PMID:747929|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9562578|PMID:9631872|PMID:9742053 8714363 Mybpc3 myosin binding protein C3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1314284 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15671604|PMID:1572569|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17192269|PMID:17224687|PMID:17560888|PMID:17576681|PMID:17908752|PMID:17937428|PMID:18258667|PMID:18273486|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19134269|PMID:19150014|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19659763|PMID:19808356|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20045868|PMID:20051424|PMID:20159828|PMID:20173211|PMID:20215591|PMID:20359594|PMID:20378854|PMID:203962|PMID:203979|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20474083|PMID:20505798|PMID:20530761|PMID:20542340|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:208206|PMID:208208|PMID:20851114|PMID:20864638|PMID:21088121|PMID:21158001|PMID:21185001|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21499742|PMID:21511876|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21817903|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21890325|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22173300|PMID:22177269|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23782526|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25228707|PMID:25262865|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:2561168|PMID:25611685|PMID:25631583|PMID:25634555|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26271555|PMID:26332198|PMID:26332594|PMID:26383716|PMID:26455666|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27114410|PMID:27135274|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27535533 8714363 Mybpc3 myosin binding protein C3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1314284 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:27561770|PMID:27576561|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27620334|PMID:27650965|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27884173|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28029522|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28193612|PMID:28214152|PMID:28241245|PMID:28254189|PMID:2832387|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:2861529|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29300372|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29451820|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29625023|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29709087|PMID:29710196|PMID:29758562|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:30009132|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30554920|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30763825|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31333075|PMID:31376648|PMID:31424582|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31737537|PMID:31771441|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32101375|PMID:32123317|PMID:32163302|PMID:32228044|PMID:32250699|PMID:32341788|PMID:32369506|PMID:32380161|PMID:32420109|PMID:32451163|PMID:32461654|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32588587|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32830170|PMID:32841044|PMID:32880476|PMID:33029862|PMID:33087929|PMID:33148509|PMID:33190526|PMID:33241513|PMID:33258288|PMID:33297573|PMID:33302605|PMID:33407484|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33558530|PMID:33658040|PMID:33662488|PMID:33663232|PMID:33673806|PMID:33732734|PMID:33782553|PMID:33874732|PMID:33906374|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34310159|PMID:34389451|PMID:34400558|PMID:34426522|PMID:34542152|PMID:34556856|PMID:34588271|PMID:34598319|PMID:34680864|PMID:34935411|PMID:35026164|PMID:35027292|PMID:35176171|PMID:35199016|PMID:35200695|PMID:35208637|PMID:35265679|PMID:35284542|PMID:35288587|PMID:35411935|PMID:35470680|PMID:35508642|PMID:35535697|PMID:35581137|PMID:35581268|PMID:35626289|PMID:35629155|PMID:35653365|PMID:36136372|PMID:36140281|PMID:36166435|PMID:36178741|PMID:36203036|PMID:36252119|PMID:36264615|PMID:36291626|PMID:36357371|PMID:36588553|PMID:36704059|PMID:37089884|PMID:37178278|PMID:37194601|PMID:37431535|PMID:37466024|PMID:37477868|PMID:37498360|PMID:37589201|PMID:37652022|PMID:37844837|PMID:37937776|PMID:38002985|PMID:38489124|PMID:38540378|PMID:38757491|PMID:397516074|PMID:3980194|PMID:739990|PMID:747929|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9562578|PMID:9631872|PMID:9742053 8714363 Mybpc3 myosin binding protein C3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1314284 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:27561770|PMID:27576561|PMID:27600940|PMID:27618852|PMID:27620334|PMID:27650965|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27884173|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28029522|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28193612|PMID:28214152|PMID:28241245|PMID:28254189|PMID:2832387|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:2861529|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29300372|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29451820|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29625023|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29709087|PMID:29710196|PMID:29758562|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:30009132|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30554920|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30763825|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31333075|PMID:31376648|PMID:31424582|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31737537|PMID:31771441|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32101375|PMID:32123317|PMID:32163302|PMID:32228044|PMID:32250699|PMID:32341788|PMID:32369506|PMID:32380161|PMID:32420109|PMID:32451163|PMID:32461654|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32588587|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32830170|PMID:32841044|PMID:32880476|PMID:33029862|PMID:33087929|PMID:33148509|PMID:33190526|PMID:33241513|PMID:33258288|PMID:33297573|PMID:33302605|PMID:33407484|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33558530|PMID:33658040|PMID:33662488|PMID:33663232|PMID:33673806|PMID:33732734|PMID:33782553|PMID:33874732|PMID:33906374|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34310159|PMID:34389451|PMID:34400558|PMID:34426522|PMID:34542152|PMID:34556856|PMID:34588271|PMID:34598319|PMID:34680864|PMID:34935411|PMID:35026164|PMID:35027292|PMID:35176171|PMID:35199016|PMID:35200695|PMID:35208637|PMID:35265679|PMID:35284542|PMID:35288587|PMID:35411935|PMID:35470680|PMID:35508642|PMID:35535697|PMID:35581137|PMID:35581268|PMID:35626289|PMID:35629155|PMID:35653365|PMID:36136372|PMID:36140281|PMID:36166435|PMID:36178741|PMID:36203036|PMID:36252119|PMID:36264615|PMID:36291626|PMID:36357371|PMID:36588553|PMID:36704059|PMID:37089884|PMID:37178278|PMID:37194601|PMID:37431535|PMID:37466024|PMID:37477868|PMID:37498360|PMID:37589201|PMID:37652022|PMID:37844837|PMID:37937776|PMID:38002985|PMID:38489124|PMID:38540378|PMID:38757491|PMID:397516074|PMID:3980194|PMID:739990|PMID:747929|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9562578|PMID:9631872|PMID:9742053 8714363 Mybpc3 myosin binding protein C3 gene DOID:0110310 hypertrophic cardiomyopathy 4 ISO RGD:1314284 D RGD:7240710 20180130 OMIM 8714363 Mybpc3 myosin binding protein C3 gene DOID:0110310 hypertrophic cardiomyopathy 4 ISO RGD:1314284 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic, 4, susceptibility to | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 4 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 | ClinVar Annotator: match by term: MYBPC3-related condition PMID:10424815|PMID:10521296|PMID:10610770|PMID:10736283|PMID:11447480|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11835941|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12386140|PMID:12386147|PMID:12566107|PMID:12601548|PMID:12628722|PMID:12707239|PMID:12787675|PMID:12788380|PMID:12818575|PMID:12881443|PMID:12951062|PMID:12974739|PMID:1428680|PMID:14563344|PMID:14613868|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15358028|PMID:15370892|PMID:15519027|PMID:15563892|PMID:15671604|PMID:1572569|PMID:15769446|PMID:15823648|PMID:15856146|PMID:15936968|PMID:16004897|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16352453|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17192269|PMID:17224687|PMID:17263690|PMID:17386157|PMID:17394878|PMID:17521870|PMID:17536430|PMID:17560888|PMID:17576681|PMID:17612681|PMID:17643520|PMID:17655857|PMID:17908752|PMID:17937428|PMID:17947214|PMID:18258667|PMID:18273486|PMID:18337725|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18803133|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19134269|PMID:19149795|PMID:19150014|PMID:19151713|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19632136|PMID:19659763|PMID:19666645|PMID:19808356|PMID:19858127|PMID:198863|PMID:19996403|PMID:20019025|PMID:20021930|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20201939|PMID:20215591|PMID:20359594|PMID:20378854|PMID:203962|PMID:203979|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20474083|PMID:20505798|PMID:20513729|PMID:20530761|PMID:20542340|PMID:20560008|PMID:20594303|PMID:20605413|PMID:20624503|PMID:20641121|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:208206|PMID:20851114|PMID:20864638|PMID:20975235|PMID:21088121|PMID:21158001|PMID:21165360|PMID:21185001|PMID:21185128|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21488308|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21799269|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21896538|PMID:21915287|PMID:21939669|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22122802|PMID:22173300|PMID:22177269|PMID:22178992|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22989827|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23406853|PMID:23418287|PMID:23418438|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23740383|PMID:23782526|PMID:23785128|PMID:23816408|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24327208|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24749114|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:24906243|PMID:25031304|PMID:25034069|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25228707|PMID:25262865|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510 8714363 Mybpc3 myosin binding protein C3 gene DOID:0110310 hypertrophic cardiomyopathy 4 ISO RGD:1314284 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic, 4, susceptibility to | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 4 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 | ClinVar Annotator: match by term: MYBPC3-related condition PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:25583989|PMID:2561168|PMID:25611685|PMID:25631583|PMID:25634555|PMID:25635128|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25741891|PMID:25849606|PMID:25856671|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26163040|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26271555|PMID:26332198|PMID:26332594|PMID:26383716|PMID:26455666|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26633542|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26688388|PMID:26743238|PMID:26776584|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27114410|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27535533|PMID:27561770|PMID:27576561|PMID:27585509|PMID:27600940|PMID:27618852|PMID:27620334|PMID:27650965|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27884173|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28029522|PMID:28031081|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28254189|PMID:28255936|PMID:28301460|PMID:2832387|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28566242|PMID:28611029|PMID:28614222|PMID:2861529|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28747690|PMID:28749478|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28793143|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28843747|PMID:28855170|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29095814|PMID:29099038|PMID:29121657|PMID:29192238|PMID:2921289|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29255176|PMID:29300372|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29449720|PMID:29451820|PMID:29493010|PMID:29497013|PMID:29511324|PMID:29517769|PMID:29524613|PMID:29540445|PMID:29540472|PMID:29555771|PMID:29565423|PMID:29625023|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29758562|PMID:29759638|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29853478|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:29998127|PMID:30009132|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30206291|PMID:30282064|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30554920|PMID:30586709|PMID:30600190|PMID:30606897|PMID:30609409|PMID:30611859|PMID:30615648|PMID:30645170|PMID:30665703|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30763825|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30959811|PMID:30972196|PMID:30984009|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31323898|PMID:31333075|PMID:31376648|PMID:31424582|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31699567|PMID:31730716|PMID:31737537|PMID:31771441|PMID:31901299|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32034629|PMID:32123317|PMID:32163302|PMID:32183154|PMID:32228044|PMID:32233023|PMID:32250699|PMID:32268277|PMID:32341788|PMID:32344918|PMID:32356610|PMID:32369506|PMID:32380161|PMID:32396390|PMID:32420109|PMID:32451163|PMID:32461654|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32543992|PMID:32588587|PMID:32600061|PMID:32659924|PMID:32686758|PMID:32710830|PMID:32731933|PMID:32746448 8714363 Mybpc3 myosin binding protein C3 gene DOID:0110310 hypertrophic cardiomyopathy 4 ISO RGD:1314284 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic, 4, susceptibility to | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 4 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 | ClinVar Annotator: match by term: MYBPC3-related condition PMID:32815737|PMID:32826072|PMID:32830170|PMID:32841044|PMID:32860008|PMID:32880476|PMID:32901917|PMID:32917565|PMID:33029862|PMID:33035702|PMID:33190526|PMID:33241513|PMID:33258288|PMID:33302605|PMID:33407484|PMID:33432171|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33530161|PMID:33558530|PMID:33657327|PMID:33658040|PMID:33658374|PMID:33662488|PMID:33673806|PMID:33732734|PMID:33757590|PMID:33782553|PMID:3378553|PMID:33830315|PMID:33874732|PMID:33906374|PMID:33919104|PMID:34008892|PMID:34026292|PMID:34087240|PMID:34088380|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34310159|PMID:34389451|PMID:34395343|PMID:34400558|PMID:34426522|PMID:34428338|PMID:34540771|PMID:34542152|PMID:34555931|PMID:34556856|PMID:34598319|PMID:34601892|PMID:34667957|PMID:34680864|PMID:34694434|PMID:34785479|PMID:34816733|PMID:34819141|PMID:34853230|PMID:34915024|PMID:34935411|PMID:34949102|PMID:35026164|PMID:35027292|PMID:35176171|PMID:35199016|PMID:35200695|PMID:35208637|PMID:35257994|PMID:35265679|PMID:35284542|PMID:35288587|PMID:35411935|PMID:35470680|PMID:35470684|PMID:35508642|PMID:35535697|PMID:35581137|PMID:35581268|PMID:35626289|PMID:35629155|PMID:35653365|PMID:35838873|PMID:35885957|PMID:35934244|PMID:36082122|PMID:36136372|PMID:36140281|PMID:36166435|PMID:36178741|PMID:36203036|PMID:36252119|PMID:36264615|PMID:36291626|PMID:36357371|PMID:36357925|PMID:36474027|PMID:36578016|PMID:36580209|PMID:36588553|PMID:36660067|PMID:36704059|PMID:36788754|PMID:36835444|PMID:36980931|PMID:37089884|PMID:37178278|PMID:37194601|PMID:37352859|PMID:37431535|PMID:37466024|PMID:37477868|PMID:37498360|PMID:37589201|PMID:37652022|PMID:37821546|PMID:37844837|PMID:37937352|PMID:37937776|PMID:37963751|PMID:38002985|PMID:38042491|PMID:38254962|PMID:38489124|PMID:38540378|PMID:38757491|PMID:39001760|PMID:39481677|PMID:397516074|PMID:3980194|PMID:7352859|PMID:747929|PMID:7493025|PMID:7493026|PMID:7786104|PMID:8533079|PMID:8655135|PMID:9048664|PMID:9218526|PMID:9241277|PMID:924849|PMID:925171|PMID:9503187|PMID:950554|PMID:9536098|PMID:9541100|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053 8714363 Mybpc3 myosin binding protein C3 gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1314284 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A | ClinVar Annotator: match by term: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation PMID:11499718|PMID:11815426|PMID:12110947|PMID:12707239|PMID:12818575|PMID:12974739|PMID:15519027|PMID:16199542|PMID:16199547|PMID:16858239|PMID:17560888|PMID:19574547|PMID:20045868|PMID:20215591|PMID:20435227|PMID:20474083|PMID:22337857|PMID:22763267|PMID:22958901|PMID:23283745|PMID:23299917|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24510615|PMID:24621997|PMID:24865491|PMID:25326637|PMID:25377941|PMID:25637381|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26332594|PMID:26458567|PMID:26467025|PMID:27600940|PMID:28420666|PMID:28492532|PMID:28679633|PMID:31931689|PMID:31983221|PMID:33432171|PMID:33495597 8714363 Mybpc3 myosin binding protein C3 gene DOID:0110431 dilated cardiomyopathy 1I ISO RGD:1314284 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1I PMID:11499719|PMID:12974739|PMID:15519027|PMID:16199542|PMID:16715312|PMID:18403758|PMID:18409188|PMID:18957093|PMID:19574547|PMID:21409595|PMID:21985754|PMID:22455086|PMID:24510615|PMID:25031304|PMID:25351510|PMID:25741868|PMID:25892673|PMID:26271555|PMID:27532257|PMID:27600940|PMID:28408708|PMID:28492532|PMID:28615295|PMID:29121657|PMID:30025578|PMID:30550750|PMID:30847666|PMID:31513939|PMID:31737537|PMID:33495596|PMID:33495597|PMID:33673806|PMID:34542152|PMID:34598319|PMID:35176171|PMID:38002985|PMID:38540378 8714363 Mybpc3 myosin binding protein C3 gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:1314284 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:10521296|PMID:10610770|PMID:12110947|PMID:12117842|PMID:12386147|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12818575|PMID:12951062|PMID:14563344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15519027|PMID:16199542|PMID:16651346|PMID:16831826|PMID:16858239|PMID:17576681|PMID:18403758|PMID:18414213|PMID:18533079|PMID:18761664|PMID:19035361|PMID:19150014|PMID:20378854|PMID:20433692|PMID:2073894|PMID:20738943|PMID:21239446|PMID:21302287|PMID:21472310|PMID:21835320|PMID:21839045|PMID:22057632|PMID:22267749|PMID:22765922|PMID:22857948|PMID:23054336|PMID:23233322|PMID:23299917|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24093860|PMID:24510615|PMID:24774285|PMID:24793961|PMID:25031304|PMID:25078086|PMID:25342278|PMID:25351510|PMID:25447171|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25740977|PMID:25741868|PMID:26822237|PMID:27483260|PMID:27532257|PMID:28492532|PMID:28538763|PMID:28611029|PMID:28615295|PMID:28658286|PMID:28679633|PMID:29030401|PMID:29121657|PMID:29511324|PMID:29790872|PMID:30609409|PMID:30645170|PMID:31006259|PMID:31447099|PMID:31514951|PMID:32686758|PMID:32731933|PMID:32841044|PMID:34097875|PMID:9048664|PMID:9536098|PMID:9631872 8714363 Mybpc3 myosin binding protein C3 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1314284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:17686188|PMID:28492532 8714363 Mybpc3 myosin binding protein C3 gene DOID:0112072 nuclear type mitochondrial complex I deficiency 20 ISO RGD:1314284 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Acyl-CoA dehydrogenase family, member 9, deficiency of | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 PMID:11499718|PMID:12881443|PMID:12951062|PMID:15358028|PMID:15519027|PMID:15856146|PMID:16715312|PMID:18403758|PMID:18409188|PMID:18957093|PMID:19150014|PMID:19659763|PMID:20019025|PMID:20624503|PMID:21185001|PMID:21239446|PMID:21638988|PMID:22267749|PMID:22455086|PMID:22857948|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24093860|PMID:24510615|PMID:24704860|PMID:25031304|PMID:25741868|PMID:26671970|PMID:27532257|PMID:27688314|PMID:27737317|PMID:28024942|PMID:28492532|PMID:28615295|PMID:29121657|PMID:29447731|PMID:30847666|PMID:30871747|PMID:31447099|PMID:33673806|PMID:35535697|PMID:8655135|PMID:9562578 8714363 Mybpc3 myosin binding protein C3 gene DOID:10487 Hirschsprung's disease ISO RGD:1314284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon PMID:25741868 8714363 Mybpc3 myosin binding protein C3 gene DOID:1059 intellectual disability ISO RGD:1314284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:15519027|PMID:16199547|PMID:18957093|PMID:19574547|PMID:21750094|PMID:22267749|PMID:23674513|PMID:24033266|PMID:24510615|PMID:25525159|PMID:25637381|PMID:25741868|PMID:27096365|PMID:27532257|PMID:27831900|PMID:28492532|PMID:29029073 8714363 Mybpc3 myosin binding protein C3 gene DOID:1059 intellectual disability ISO RGD:1314284 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:15519027|PMID:16199547|PMID:18957093|PMID:19574547|PMID:21750094|PMID:22267749|PMID:23674513|PMID:24033266|PMID:24510615|PMID:25525159|PMID:25637381|PMID:25741868|PMID:27096365|PMID:27532257|PMID:27831900|PMID:28492532|PMID:29029073|PMID:31447099|PMID:32686758|PMID:33258288 8714363 Mybpc3 myosin binding protein C3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1314284 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:10424815|PMID:10521296|PMID:10610770|PMID:10736283|PMID:11447480|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11835941|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12386140|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12601548|PMID:12628722|PMID:12707239|PMID:12787675|PMID:12788380|PMID:12818575|PMID:12951062|PMID:12974739|PMID:1428680|PMID:14563344|PMID:14613868|PMID:14718142|PMID:15000344|PMID:15010274|PMID:1504154|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15370892|PMID:15519027|PMID:15563892|PMID:15671604|PMID:1572569|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16061003|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16352453|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16799241|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17192269|PMID:17224687|PMID:17263690|PMID:17386157|PMID:17394878|PMID:17521870|PMID:17536430|PMID:17560888|PMID:17576681|PMID:17612681|PMID:17643520|PMID:17655857|PMID:17908752|PMID:17937428|PMID:17947214|PMID:18258667|PMID:18273486|PMID:18337725|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18803133|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19134269|PMID:19149795|PMID:19150014|PMID:19151713|PMID:19273718|PMID:19276111|PMID:19293840|PMID:19356534|PMID:19406073|PMID:19543287|PMID:19574547|PMID:19590044|PMID:19632136|PMID:19659763|PMID:19666645|PMID:19694057|PMID:19763152|PMID:19808356|PMID:19858127|PMID:198863|PMID:19996403|PMID:20019025|PMID:20021930|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20201939|PMID:20215591|PMID:20307669|PMID:20359594|PMID:20378854|PMID:203962|PMID:203979|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20505798|PMID:20513729|PMID:20530761|PMID:20542340|PMID:20560008|PMID:20594303|PMID:20605413|PMID:20624503|PMID:20641121|PMID:20689143|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:208206|PMID:208208|PMID:20851114|PMID:20864638|PMID:20975235|PMID:21088121|PMID:21158001|PMID:21165360|PMID:21185001|PMID:21185128|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21488308|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21799269|PMID:21817903|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21890325|PMID:21896538|PMID:21915287|PMID:21939669|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22122802|PMID:22173300|PMID:22177269|PMID:22178992|PMID:22194935|PMID:22267749|PMID:22314326|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22406018|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22989827|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23406853|PMID:23418287|PMID:23418438|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23740383|PMID:23782526|PMID:23785128|PMID:23816408|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24327208|PMID:24440382|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24749114|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384 8714363 Mybpc3 myosin binding protein C3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1314284 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:24906243|PMID:25031304|PMID:25034069|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25228707|PMID:25262865|PMID:25281569|PMID:25326637|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25512492|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:25583989|PMID:2561168|PMID:25611685|PMID:25631583|PMID:25634555|PMID:25635128|PMID:25637381|PMID:25640679|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25741891|PMID:25849606|PMID:25856671|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26163040|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26265630|PMID:26267065|PMID:26271555|PMID:26272908|PMID:26332198|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26455666|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26497160|PMID:26633542|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26688388|PMID:26743238|PMID:26776584|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27066507|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27114410|PMID:27135274|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27535533|PMID:27561770|PMID:27574918|PMID:27576561|PMID:27585509|PMID:27600940|PMID:27618852|PMID:27620334|PMID:27650965|PMID:27662471|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27884173|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28029522|PMID:28031081|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28254189|PMID:28255936|PMID:28265379|PMID:28301460|PMID:2832387|PMID:28323875|PMID:28327871|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28450932|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28600387|PMID:28611029|PMID:28614222|PMID:2861529|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28694399|PMID:28699631|PMID:28747690|PMID:28749478|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28793143|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28822653|PMID:28824454|PMID:28840316|PMID:28843747|PMID:28855170|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29095814|PMID:29099038|PMID:29121657|PMID:29192238|PMID:2921289|PMID:29212898|PMID:29219260|PMID:29237689|PMID:29247119|PMID:29255176|PMID:29300372|PMID:29367541|PMID:29398688|PMID:29415625|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29449720|PMID:29451820|PMID:29493010|PMID:29497013|PMID:29511324|PMID:29517769|PMID:29524613|PMID:29540445|PMID:29540472|PMID:29555771|PMID:29565423|PMID:29625023|PMID:29631964|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29758562|PMID:29759638|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29853478|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:29998127|PMID:30009132|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30282064|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30442288|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30554920|PMID:30586709|PMID:30600190|PMID:30606897|PMID:30609409|PMID:30611859|PMID:30615648|PMID:30645170|PMID:30665703|PMID:30669812|PMID:30674652|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30763825|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30924982|PMID:30959811|PMID:30972196|PMID:30984009|PMID:30985088|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31112421|PMID:31179125|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31317183|PMID:31323898|PMID:31333075|PMID:31376648|PMID:31397097|PMID:31402444|PMID:3140859 8714363 Mybpc3 myosin binding protein C3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1314284 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:31424582|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31699567|PMID:31730716|PMID:31737537|PMID:31747981|PMID:31771441|PMID:31901299|PMID:31912959|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32034629|PMID:32041989|PMID:32101375|PMID:32123317|PMID:32163302|PMID:32183154|PMID:32228044|PMID:32233023|PMID:32250699|PMID:32341788|PMID:32344918|PMID:32355288|PMID:32356610|PMID:32369506|PMID:32380161|PMID:32396390|PMID:32420109|PMID:32451163|PMID:32461654|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32519640|PMID:32531501|PMID:32543992|PMID:32588587|PMID:32600061|PMID:32659924|PMID:32686758|PMID:32710830|PMID:32731933|PMID:32746448|PMID:32764337|PMID:32815737|PMID:32826072|PMID:32830170|PMID:32841044|PMID:32860008|PMID:32880476|PMID:32888301|PMID:32901917|PMID:32917565|PMID:33012304|PMID:33029862|PMID:33035702|PMID:33087929|PMID:33148509|PMID:33190517|PMID:33190526|PMID:33232181|PMID:33241513|PMID:33258288|PMID:33297573|PMID:33302605|PMID:33325730|PMID:33407484|PMID:33432171|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33530161|PMID:33558530|PMID:33586461|PMID:33588347|PMID:33657327|PMID:33658040|PMID:33658374|PMID:33662488|PMID:33663232|PMID:33673806|PMID:33732734|PMID:33757590|PMID:33764162|PMID:33782553|PMID:3378553|PMID:33830315|PMID:33874732|PMID:33892289|PMID:33906374|PMID:33919104|PMID:33996946|PMID:34011823|PMID:34026292|PMID:34076677|PMID:34087240|PMID:34088380|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34310159|PMID:34389451|PMID:34395343|PMID:34400558|PMID:34426522|PMID:34428338|PMID:34503678|PMID:34540771|PMID:34542152|PMID:34555931|PMID:34556856|PMID:34588271|PMID:34598319|PMID:34601892|PMID:34667957|PMID:34680864|PMID:34694434|PMID:34769381|PMID:34785479|PMID:34816733|PMID:34819141|PMID:34853230|PMID:34915024|PMID:34935411|PMID:34949102|PMID:35026164|PMID:35027292|PMID:35176171|PMID:35199016|PMID:35200695|PMID:35208637|PMID:35227736|PMID:35257994|PMID:35265679|PMID:35284542|PMID:35288587|PMID:35304488|PMID:35411935|PMID:35470680|PMID:35470684|PMID:35508642|PMID:35535697|PMID:35581137|PMID:35581268|PMID:35626289|PMID:35629155|PMID:35653365|PMID:35753512|PMID:35838873|PMID:35885957|PMID:35934244|PMID:36082122|PMID:36136372|PMID:36140281|PMID:36166435|PMID:36178741|PMID:36203036|PMID:36252119|PMID:36264615|PMID:36291626|PMID:36293497|PMID:36328362|PMID:36352534|PMID:36357371|PMID:36357925|PMID:36474027|PMID:36481846|PMID:36578016|PMID:36580209|PMID:36588553|PMID:36660067|PMID:36704059|PMID:36788754|PMID:36835444|PMID:36980931|PMID:37002766|PMID:37089884|PMID:37178278|PMID:37194601|PMID:37431535|PMID:37466024|PMID:37477868|PMID:37498360|PMID:37589201|PMID:37652022|PMID:37750083|PMID:37821546|PMID:37844837|PMID:37937352|PMID:37937776|PMID:37963751|PMID:38002985|PMID:38042491|PMID:38254962|PMID:38296580|PMID:38489124|PMID:3852942|PMID:38540378|PMID:38757491|PMID:39001760|PMID:39481677|PMID:397516074|PMID:3980194|PMID:739990|PMID:747929|PMID:7493025|PMID:7493026|PMID:7786104|PMID:8533079|PMID:9048664|PMID:9218526|PMID:9241277|PMID:924849|PMID:925171|PMID:9503187|PMID:950554|PMID:9536098|PMID:9541100|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053 8714363 Mybpc3 myosin binding protein C3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1314284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11499718|PMID:11499719|PMID:11815426|PMID:12110947|PMID:12707239|PMID:12818575|PMID:12974739|PMID:14563344|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16715312|PMID:16858239|PMID:17560888|PMID:18403758|PMID:18409188|PMID:18533079|PMID:18761664|PMID:18809796|PMID:18929575|PMID:18957093|PMID:19150014|PMID:19293840|PMID:19574547|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20215591|PMID:20378854|PMID:20433692|PMID:20435227|PMID:20458009|PMID:20474083|PMID:20624503|PMID:20800588|PMID:20818890|PMID:21302287|PMID:21310275|PMID:21511876|PMID:21750094|PMID:21835320|PMID:21839045|PMID:21959974|PMID:22122802|PMID:22194935|PMID:22267749|PMID:22361390|PMID:22386539|PMID:22464770|PMID:22563033|PMID:22589294|PMID:22763267|PMID:22857948|PMID:22907696|PMID:22958901|PMID:23054336|PMID:23140321|PMID:23197398|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23549607|PMID:23642604|PMID:23690394|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24793961|PMID:24810389|PMID:24865491|PMID:25058872|PMID:25086479|PMID:25163546|PMID:25351510|PMID:25377941|PMID:25569433|PMID:25637381|PMID:25740977|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26914223|PMID:27153395|PMID:27194543|PMID:27418595|PMID:27435932|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27650965|PMID:27896284|PMID:28214152|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28807990|PMID:28843747|PMID:28971120|PMID:29121657|PMID:29367541|PMID:29875424|PMID:30165862|PMID:30972196|PMID:31006259|PMID:31028938|PMID:32009526|PMID:9048664|PMID:9562578 8714363 Mybpc3 myosin binding protein C3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1314284 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11499718|PMID:11499719|PMID:11815426|PMID:12110947|PMID:12707239|PMID:12818575|PMID:12974739|PMID:14563344|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16715312|PMID:16858239|PMID:17560888|PMID:18403758|PMID:18409188|PMID:18533079|PMID:18761664|PMID:18809796|PMID:18929575|PMID:18957093|PMID:19150014|PMID:19293840|PMID:19574547|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20215591|PMID:20378854|PMID:20433692|PMID:20435227|PMID:20458009|PMID:20474083|PMID:20624503|PMID:20800588|PMID:20818890|PMID:21302287|PMID:21310275|PMID:21511876|PMID:21750094|PMID:21835320|PMID:21839045|PMID:21959974|PMID:22122802|PMID:22194935|PMID:22267749|PMID:22361390|PMID:22386539|PMID:22464770|PMID:22563033|PMID:22589294|PMID:22763267|PMID:22857948|PMID:22907696|PMID:22958901|PMID:23054336|PMID:23140321|PMID:23197398|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23549607|PMID:23642604|PMID:23690394|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24793961|PMID:24810389|PMID:24865491|PMID:25058872|PMID:25086479|PMID:25163546|PMID:25351510|PMID:25377941|PMID:25569433|PMID:25637381|PMID:25740977|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26914223|PMID:27153395|PMID:27194543|PMID:27418595|PMID:27435932|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27650965|PMID:27831900|PMID:27896284|PMID:28214152|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28807990|PMID:28843747|PMID:28971120|PMID:29121657|PMID:29367541|PMID:29875424|PMID:30165862|PMID:30316040|PMID:30471092|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31447099|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32686758|PMID:9048664|PMID:9562578 8714363 Mybpc3 myosin binding protein C3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1314284 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11499718|PMID:11499719|PMID:11815426|PMID:12110947|PMID:12707239|PMID:12818575|PMID:12974739|PMID:14563344|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16715312|PMID:16858239|PMID:17560888|PMID:18403758|PMID:18409188|PMID:18533079|PMID:18761664|PMID:18809796|PMID:18929575|PMID:18957093|PMID:19150014|PMID:19293840|PMID:19574547|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20215591|PMID:20378854|PMID:20433692|PMID:20435227|PMID:20458009|PMID:20474083|PMID:20624503|PMID:20800588|PMID:20818890|PMID:21302287|PMID:21310275|PMID:21511876|PMID:21750094|PMID:21835320|PMID:21839045|PMID:21959974|PMID:22122802|PMID:22194935|PMID:22267749|PMID:22361390|PMID:22386539|PMID:22464770|PMID:22563033|PMID:22589294|PMID:22763267|PMID:22857948|PMID:22907696|PMID:22958901|PMID:23054336|PMID:23140321|PMID:23197398|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23549607|PMID:23642604|PMID:23690394|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24793961|PMID:24810389|PMID:24865491|PMID:25058872|PMID:25086479|PMID:25163546|PMID:25351510|PMID:25377941|PMID:25569433|PMID:25637381|PMID:25740977|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26914223|PMID:27153395|PMID:27194543|PMID:27418595|PMID:27435932|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27650965|PMID:27831900|PMID:27896284|PMID:28214152|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28807990|PMID:28843747|PMID:28971120|PMID:29121657|PMID:29367541|PMID:29875424|PMID:30165862|PMID:30316040|PMID:30471092|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31447099|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32686758|PMID:33782553|PMID:34097875|PMID:9048664|PMID:9562578 8714363 Mybpc3 myosin binding protein C3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1314284 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11499718|PMID:11499719|PMID:11815426|PMID:12110947|PMID:12707239|PMID:12818575|PMID:12974739|PMID:14563344|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16715312|PMID:16858239|PMID:17560888|PMID:18403758|PMID:18409188|PMID:18533079|PMID:18761664|PMID:18809796|PMID:18929575|PMID:18957093|PMID:19150014|PMID:19293840|PMID:19574547|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20215591|PMID:20378854|PMID:20433692|PMID:20435227|PMID:20458009|PMID:20474083|PMID:20624503|PMID:20800588|PMID:20818890|PMID:21302287|PMID:21310275|PMID:21511876|PMID:21750094|PMID:21835320|PMID:21839045|PMID:21959974|PMID:22122802|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22464770|PMID:22563033|PMID:22589294|PMID:22763267|PMID:22857948|PMID:22907696|PMID:22958901|PMID:23054336|PMID:23140321|PMID:23197398|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23549607|PMID:23642604|PMID:23690394|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24793961|PMID:24810389|PMID:24865491|PMID:25058872|PMID:25086479|PMID:25163546|PMID:25351510|PMID:25377941|PMID:25569433|PMID:25637381|PMID:25740977|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26914223|PMID:27153395|PMID:27194543|PMID:27418595|PMID:27435932|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27650965|PMID:27831900|PMID:27896284|PMID:28214152|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28807990|PMID:28843747|PMID:28971120|PMID:29121657|PMID:29367541|PMID:29420653|PMID:29511324|PMID:29875424|PMID:29914921|PMID:30165862|PMID:30316040|PMID:30471092|PMID:30847666|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31219556|PMID:31447099|PMID:31737537|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32250699|PMID:32686758|PMID:33190526|PMID:33432171|PMID:33782553|PMID:34097875|PMID:34389451|PMID:9048664|PMID:9562578 8714363 Mybpc3 myosin binding protein C3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1314284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11499718|PMID:11499719|PMID:11815426|PMID:12110947|PMID:12202917|PMID:12707239|PMID:12818575|PMID:12974739|PMID:14563344|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16715312|PMID:16858239|PMID:17560888|PMID:18403758|PMID:18409188|PMID:18533079|PMID:18761664|PMID:18809796|PMID:18929575|PMID:18957093|PMID:19150014|PMID:19293840|PMID:19574547|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20215591|PMID:20378854|PMID:20433692|PMID:20435227|PMID:20458009|PMID:20474083|PMID:20624503|PMID:20800588|PMID:20818890|PMID:20864638|PMID:21302287|PMID:21310275|PMID:21511876|PMID:21750094|PMID:21835320|PMID:21839045|PMID:21959974|PMID:22122802|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22464770|PMID:22563033|PMID:22589294|PMID:22763267|PMID:22857948|PMID:22907696|PMID:22958901|PMID:23054336|PMID:23140321|PMID:23197398|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23549607|PMID:23642604|PMID:23690394|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24793961|PMID:24810389|PMID:24865491|PMID:25031304|PMID:25058872|PMID:25086479|PMID:25163546|PMID:25351510|PMID:25377941|PMID:25569433|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26914223|PMID:27153395|PMID:27194543|PMID:27418595|PMID:27435932|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27650965|PMID:27831900|PMID:27896284|PMID:28214152|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28807990|PMID:28843747|PMID:28971120|PMID:29121657|PMID:29367541|PMID:29420653|PMID:29511324|PMID:29875314|PMID:29875424|PMID:29914921|PMID:30165862|PMID:30316040|PMID:30471092|PMID:30847666|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31219556|PMID:31447099|PMID:31514951|PMID:31737537|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32250699|PMID:32686758|PMID:33190526|PMID:33432171|PMID:33782553|PMID:34097875|PMID:34389451|PMID:7493025|PMID:8533079|PMID:9048664|PMID:9562578 8714363 Mybpc3 myosin binding protein C3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1314284 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11499718|PMID:11499719|PMID:11815426|PMID:12110947|PMID:12202917|PMID:12707239|PMID:12818575|PMID:12974739|PMID:14563344|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16715312|PMID:16858239|PMID:17560888|PMID:18403758|PMID:18409188|PMID:18533079|PMID:18761664|PMID:18809796|PMID:18929575|PMID:18957093|PMID:19150014|PMID:19293840|PMID:19574547|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20215591|PMID:20378854|PMID:20433692|PMID:20435227|PMID:20458009|PMID:20474083|PMID:20624503|PMID:20800588|PMID:20818890|PMID:20864638|PMID:21302287|PMID:21310275|PMID:21511876|PMID:21750094|PMID:21835320|PMID:21839045|PMID:21959974|PMID:22122802|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22464770|PMID:22563033|PMID:22589294|PMID:22763267|PMID:22857948|PMID:22907696|PMID:22958901|PMID:23054336|PMID:23140321|PMID:23197398|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23549607|PMID:23642604|PMID:23690394|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24793961|PMID:24810389|PMID:24865491|PMID:25031304|PMID:25058872|PMID:25086479|PMID:25163546|PMID:25351510|PMID:25377941|PMID:25569433|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26914223|PMID:27153395|PMID:27194543|PMID:27418595|PMID:27435932|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27650965|PMID:27831900|PMID:27896284|PMID:28214152|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28807990|PMID:28843747|PMID:28971120|PMID:29121657|PMID:29367541|PMID:29420653|PMID:29511324|PMID:29875314|PMID:29875424|PMID:29914921|PMID:30165862|PMID:30316040|PMID:30471092|PMID:30847666|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31219556|PMID:31447099|PMID:31514951|PMID:31737537|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32250699|PMID:32686758|PMID:33190526|PMID:33432171|PMID:33782553|PMID:34097875|PMID:34389451|PMID:34935411|PMID:7493025|PMID:8533079|PMID:9048664|PMID:9562578 8714363 Mybpc3 myosin binding protein C3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1314284 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11499718|PMID:11499719|PMID:11815426|PMID:12110947|PMID:12202917|PMID:12707239|PMID:12818575|PMID:12974739|PMID:14563344|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16715312|PMID:16858239|PMID:17560888|PMID:18403758|PMID:18409188|PMID:18533079|PMID:18761664|PMID:18809796|PMID:18929575|PMID:18957093|PMID:19150014|PMID:19293840|PMID:19574547|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20215591|PMID:20378854|PMID:20433692|PMID:20435227|PMID:20458009|PMID:20474083|PMID:20624503|PMID:20800588|PMID:20818890|PMID:20864638|PMID:21302287|PMID:21310275|PMID:21511876|PMID:21750094|PMID:21835320|PMID:21839045|PMID:21959974|PMID:22122802|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22464770|PMID:22563033|PMID:22589294|PMID:22763267|PMID:22857948|PMID:22907696|PMID:22958901|PMID:23054336|PMID:23140321|PMID:23197398|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23549607|PMID:23642604|PMID:23690394|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24793961|PMID:24810389|PMID:24865491|PMID:25031304|PMID:25058872|PMID:25086479|PMID:25163546|PMID:25351510|PMID:25377941|PMID:25569433|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26633542|PMID:26914223|PMID:27153395|PMID:27194543|PMID:27418595|PMID:27435932|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27650965|PMID:27831900|PMID:27885498|PMID:27896284|PMID:28214152|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28807990|PMID:28843747|PMID:28971120|PMID:29121657|PMID:29367541|PMID:29420653|PMID:29511324|PMID:29875314|PMID:29875424|PMID:29914921|PMID:30165862|PMID:30316040|PMID:30471092|PMID:30847666|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31219556|PMID:31447099|PMID:31514951|PMID:31737537|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32250699|PMID:32686758|PMID:32841044|PMID:33190526|PMID:33432171|PMID:33782553|PMID:34097875|PMID:34389451|PMID:34426522|PMID:34935411|PMID:7493025|PMID:8533079|PMID:9048664|PMID:9562578 8714363 Mybpc3 myosin binding protein C3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1314284 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11499718|PMID:11499719|PMID:11815426|PMID:12110947|PMID:12202917|PMID:12707239|PMID:12818575|PMID:12974739|PMID:14563344|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16715312|PMID:16858239|PMID:17560888|PMID:18403758|PMID:18409188|PMID:18533079|PMID:18761664|PMID:18809796|PMID:18929575|PMID:18957093|PMID:19150014|PMID:19293840|PMID:19574547|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20215591|PMID:20378854|PMID:20433692|PMID:20435227|PMID:20458009|PMID:20474083|PMID:20560008|PMID:20624503|PMID:20800588|PMID:20818890|PMID:20864638|PMID:21302287|PMID:21310275|PMID:21511876|PMID:21750094|PMID:21835320|PMID:21839045|PMID:21959974|PMID:22122802|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22464770|PMID:22563033|PMID:22589294|PMID:22763267|PMID:22857948|PMID:22907696|PMID:22958901|PMID:23054336|PMID:23140321|PMID:23197398|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23549607|PMID:23642604|PMID:23690394|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24793961|PMID:24810389|PMID:24865491|PMID:25031304|PMID:25058872|PMID:25086479|PMID:25163546|PMID:25351510|PMID:25377941|PMID:25569433|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26633542|PMID:26914223|PMID:27153395|PMID:27194543|PMID:27418595|PMID:27435932|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27650965|PMID:27831900|PMID:27885498|PMID:27896284|PMID:28214152|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28807990|PMID:28843747|PMID:28971120|PMID:29121657|PMID:29367541|PMID:29420653|PMID:29511324|PMID:29875314|PMID:29875424|PMID:29914921|PMID:30165862|PMID:30316040|PMID:30471092|PMID:30847666|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31219556|PMID:31447099|PMID:31514951|PMID:31737537|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32250699|PMID:32686758|PMID:32841044|PMID:33190526|PMID:33432171|PMID:33495597|PMID:33500567|PMID:33782553|PMID:34097875|PMID:34389451|PMID:34426522|PMID:34935411|PMID:7493025|PMID:8533079|PMID:9048664|PMID:9562578 8714363 Mybpc3 myosin binding protein C3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1314284 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11499718|PMID:11499719|PMID:11815426|PMID:12110947|PMID:12202917|PMID:12707239|PMID:12818575|PMID:12974739|PMID:14563344|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16715312|PMID:16858239|PMID:17560888|PMID:18403758|PMID:18409188|PMID:18533079|PMID:18761664|PMID:18809796|PMID:18929575|PMID:18957093|PMID:19150014|PMID:19293840|PMID:19574547|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20215591|PMID:20378854|PMID:20433692|PMID:20435227|PMID:20458009|PMID:20474083|PMID:20560008|PMID:20624503|PMID:20800588|PMID:20818890|PMID:20864638|PMID:21302287|PMID:21310275|PMID:21511876|PMID:21750094|PMID:21835320|PMID:21839045|PMID:21959974|PMID:22122802|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22464770|PMID:22563033|PMID:22589294|PMID:22763267|PMID:22857948|PMID:22907696|PMID:22958901|PMID:23054336|PMID:23140321|PMID:23197398|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23549607|PMID:23642604|PMID:23690394|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24793961|PMID:24810389|PMID:24865491|PMID:25031304|PMID:25058872|PMID:25086479|PMID:25163546|PMID:25351510|PMID:25377941|PMID:25569433|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26633542|PMID:26914223|PMID:27153395|PMID:27194543|PMID:27418595|PMID:27435932|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27650965|PMID:27831900|PMID:27885498|PMID:27896284|PMID:28214152|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28807990|PMID:28843747|PMID:28971120|PMID:29121657|PMID:29367541|PMID:29420653|PMID:29511324|PMID:29875314|PMID:29875424|PMID:29914921|PMID:30165862|PMID:30316040|PMID:30471092|PMID:30847666|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31219556|PMID:31447099|PMID:31514951|PMID:31737537|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32250699|PMID:32686758|PMID:32841044|PMID:33190526|PMID:33432171|PMID:33495597|PMID:33500567|PMID:33673806|PMID:33782553|PMID:34097875|PMID:34389451|PMID:34426522|PMID:34935411|PMID:7493025|PMID:8533079|PMID:9048664|PMID:9562578 8714363 Mybpc3 myosin binding protein C3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1314284 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11499718|PMID:11499719|PMID:11815426|PMID:12110947|PMID:12202917|PMID:12707239|PMID:12818575|PMID:12974739|PMID:14563344|PMID:15114369|PMID:15519027|PMID:1572569|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16715312|PMID:16858239|PMID:17560888|PMID:18533079|PMID:18929575|PMID:18957093|PMID:19150014|PMID:19574547|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20215591|PMID:203962|PMID:20433692|PMID:20435227|PMID:20458009|PMID:20474083|PMID:20513729|PMID:20560008|PMID:20624503|PMID:20800588|PMID:20864638|PMID:21239446|PMID:21302287|PMID:21511876|PMID:21750094|PMID:21835320|PMID:21839045|PMID:21959974|PMID:22122802|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22464770|PMID:22563033|PMID:22763267|PMID:22857948|PMID:22907696|PMID:22958901|PMID:23054336|PMID:23140321|PMID:23197398|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23549607|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24793961|PMID:24865491|PMID:25031304|PMID:25086479|PMID:25163546|PMID:25351510|PMID:25377941|PMID:25524337|PMID:25569433|PMID:25611685|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26633542|PMID:26914223|PMID:27153395|PMID:27194543|PMID:27418595|PMID:27435932|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27650965|PMID:27885498|PMID:27896284|PMID:28214152|PMID:2832387|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28807990|PMID:28843747|PMID:28971120|PMID:29121657|PMID:29367541|PMID:29420653|PMID:29511324|PMID:29875314|PMID:29875424|PMID:29914921|PMID:30165862|PMID:30775854|PMID:30847666|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31219556|PMID:31376648|PMID:31514951|PMID:31737537|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32250699|PMID:32731933|PMID:32841044|PMID:33190526|PMID:33241513|PMID:33432171|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33673806|PMID:33782553|PMID:34097875|PMID:34310159|PMID:34389451|PMID:34426522|PMID:34935411|PMID:35026164|PMID:35027292|PMID:35265679|PMID:35411935|PMID:35581137|PMID:35581268|PMID:7493025|PMID:9048664|PMID:925171|PMID:9562578 8714363 Mybpc3 myosin binding protein C3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1314284 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11499718|PMID:11499719|PMID:11815426|PMID:12110947|PMID:12202917|PMID:12707239|PMID:12818575|PMID:12974739|PMID:14563344|PMID:15114369|PMID:15519027|PMID:1572569|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16715312|PMID:16858239|PMID:17560888|PMID:18533079|PMID:18929575|PMID:18957093|PMID:19150014|PMID:19574547|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20215591|PMID:203962|PMID:20433692|PMID:20435227|PMID:20458009|PMID:20474083|PMID:20513729|PMID:20560008|PMID:20624503|PMID:20800588|PMID:20864638|PMID:21239446|PMID:21302287|PMID:21511876|PMID:21750094|PMID:21835320|PMID:21839045|PMID:21959974|PMID:22122802|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22464770|PMID:22563033|PMID:22763267|PMID:22857948|PMID:22907696|PMID:22958901|PMID:23054336|PMID:23140321|PMID:23197398|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23549607|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24793961|PMID:24865491|PMID:25031304|PMID:25086479|PMID:25163546|PMID:25351510|PMID:25377941|PMID:25524337|PMID:25569433|PMID:25611685|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26633542|PMID:26914223|PMID:27153395|PMID:27194543|PMID:27418595|PMID:27435932|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27650965|PMID:27885498|PMID:27896284|PMID:28214152|PMID:2832387|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28807990|PMID:28843747|PMID:28971120|PMID:29121657|PMID:29367541|PMID:29420653|PMID:29511324|PMID:29758562|PMID:29875314|PMID:29875424|PMID:29914921|PMID:30165862|PMID:30775854|PMID:30847666|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31219556|PMID:31376648|PMID:31514951|PMID:31737537|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32250699|PMID:32731933|PMID:32841044|PMID:33190526|PMID:33241513|PMID:33432171|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33673806|PMID:33782553|PMID:34097875|PMID:34310159|PMID:34389451|PMID:34426522|PMID:34935411|PMID:35026164|PMID:35027292|PMID:35265679|PMID:35411935|PMID:35581137|PMID:35581268|PMID:7493025|PMID:9048664|PMID:925171|PMID:9562578 8714363 Mybpc3 myosin binding protein C3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1314284 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11499718|PMID:11499719|PMID:11815426|PMID:12110947|PMID:12202917|PMID:12707239|PMID:12818575|PMID:12974739|PMID:14563344|PMID:15114369|PMID:15519027|PMID:1572569|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16715312|PMID:16858239|PMID:17560888|PMID:18533079|PMID:18929575|PMID:18957093|PMID:19150014|PMID:19574547|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20215591|PMID:203962|PMID:20433692|PMID:20435227|PMID:20458009|PMID:20474083|PMID:20513729|PMID:20560008|PMID:20624503|PMID:20800588|PMID:20864638|PMID:21239446|PMID:21302287|PMID:21511876|PMID:21750094|PMID:21835320|PMID:21839045|PMID:21959974|PMID:22122802|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22464770|PMID:22563033|PMID:22763267|PMID:22857948|PMID:22907696|PMID:22958901|PMID:23054336|PMID:23140321|PMID:23197398|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23549607|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24793961|PMID:24865491|PMID:25031304|PMID:25086479|PMID:25163546|PMID:25351510|PMID:25377941|PMID:25524337|PMID:25569433|PMID:25611685|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26633542|PMID:26743238|PMID:26914223|PMID:27153395|PMID:27194543|PMID:27418595|PMID:27435932|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27650965|PMID:27885498|PMID:27896284|PMID:28214152|PMID:2832387|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28807990|PMID:28843747|PMID:28971120|PMID:29121657|PMID:29367541|PMID:29420653|PMID:29511324|PMID:29758562|PMID:29875314|PMID:29875424|PMID:29914921|PMID:30009132|PMID:30165862|PMID:30615648|PMID:30665703|PMID:30775854|PMID:30847666|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31219556|PMID:31376648|PMID:31514951|PMID:31737537|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32250699|PMID:32731933|PMID:32841044|PMID:33190526|PMID:33241513|PMID:33432171|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33673806|PMID:33782553|PMID:34097875|PMID:34310159|PMID:34389451|PMID:34426522|PMID:34935411|PMID:35026164|PMID:35027292|PMID:35265679|PMID:35411935|PMID:35581137|PMID:35581268|PMID:35629155|PMID:35838873|PMID:37652022|PMID:7493025|PMID:9048664|PMID:925171|PMID:9562578 8714363 Mybpc3 myosin binding protein C3 gene DOID:2843 long QT syndrome ISO RGD:1314284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:16335287|PMID:16715312|PMID:18533079|PMID:18957093|PMID:19574547|PMID:19996403|PMID:20215591|PMID:20458009|PMID:20624503|PMID:20800588|PMID:21310275|PMID:22429680|PMID:22763267|PMID:22857948|PMID:22958901|PMID:23140321|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24111713|PMID:24503780|PMID:24510615|PMID:24721642|PMID:25163546|PMID:25342278|PMID:25524337|PMID:25741868|PMID:26467025|PMID:26914223|PMID:27153395|PMID:27532257|PMID:28492532|PMID:28679633|PMID:28771489|PMID:30297972|PMID:32746448|PMID:33673806 8714363 Mybpc3 myosin binding protein C3 gene DOID:2843 long QT syndrome ISO RGD:1314284 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:16335287|PMID:16715312|PMID:18533079|PMID:18957093|PMID:19574547|PMID:19632136|PMID:19996403|PMID:20215591|PMID:20458009|PMID:20624503|PMID:20800588|PMID:21310275|PMID:21750094|PMID:22361390|PMID:22429680|PMID:22464770|PMID:22763267|PMID:22857948|PMID:22958901|PMID:23140321|PMID:23299917|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24111713|PMID:24119082|PMID:24503780|PMID:24510615|PMID:24721642|PMID:25163546|PMID:25342278|PMID:25524337|PMID:25741868|PMID:26467025|PMID:26914223|PMID:27153395|PMID:27532257|PMID:28138913|PMID:28492532|PMID:28679633|PMID:28771489|PMID:29255176|PMID:29853478|PMID:30297972|PMID:30847666|PMID:31323898|PMID:32746448|PMID:32841044|PMID:33495597|PMID:33673806|PMID:33782553 8714363 Mybpc3 myosin binding protein C3 gene DOID:2843 long QT syndrome ISO RGD:1314284 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:16335287|PMID:16715312|PMID:18533079|PMID:18957093|PMID:19574547|PMID:19632136|PMID:19996403|PMID:20215591|PMID:20458009|PMID:20624503|PMID:20800588|PMID:208206|PMID:21310275|PMID:21750094|PMID:22361390|PMID:22429680|PMID:22464770|PMID:22763267|PMID:22857948|PMID:22958901|PMID:23140321|PMID:23299917|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24111713|PMID:24119082|PMID:24503780|PMID:24510615|PMID:24721642|PMID:25163546|PMID:25342278|PMID:25524337|PMID:25741868|PMID:26467025|PMID:26914223|PMID:27153395|PMID:27532257|PMID:28138913|PMID:28254189|PMID:28492532|PMID:28679633|PMID:28771489|PMID:29255176|PMID:29853478|PMID:30297972|PMID:30847666|PMID:31110529|PMID:31323898|PMID:32746448|PMID:32841044|PMID:33495596|PMID:33495597|PMID:33673806|PMID:33782553|PMID:37652022 8714363 Mybpc3 myosin binding protein C3 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1314284 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Anomalous ventricular excitation syndrome | ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:16858239|PMID:17192269|PMID:18533079|PMID:19150014|PMID:20031602|PMID:20173211|PMID:20414521|PMID:20624503|PMID:21415409|PMID:21750094|PMID:21835320|PMID:22765922|PMID:23233322|PMID:23299917|PMID:23508784|PMID:23690394|PMID:24033266|PMID:24093860|PMID:24793961|PMID:25351510|PMID:25524337|PMID:25637381|PMID:25741868|PMID:25971843|PMID:26090888|PMID:27108529|PMID:27267291|PMID:27483260|PMID:27532257|PMID:27600940|PMID:28193612|PMID:28241245|PMID:28356264|PMID:28420666|PMID:28492532|PMID:28518168|PMID:28798025|PMID:28986452|PMID:30297972|PMID:30446606|PMID:30645170|PMID:30731207|PMID:30871747|PMID:30972196|PMID:31941943|PMID:32228044|PMID:32233023|PMID:32369506|PMID:32841044|PMID:35470680|PMID:36252119|PMID:36264615|PMID:36291626|PMID:37431535|PMID:37652022 8714363 Mybpc3 myosin binding protein C3 gene DOID:574 peripheral nervous system disease ISO RGD:1314284 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:22958901|PMID:24793961|PMID:25741868|PMID:27532257|PMID:28492532|PMID:32841044|PMID:33495597|PMID:33782553|PMID:37652022 8714363 Mybpc3 myosin binding protein C3 gene DOID:630 genetic disease ISO RGD:1314284 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:19574547|PMID:25351510|PMID:25741868|PMID:27532257|PMID:28492532|PMID:30297972 8714363 Mybpc3 myosin binding protein C3 gene DOID:870 neuropathy ISO RGD:1314284 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:22958901|PMID:24793961|PMID:25741868|PMID:27532257|PMID:28492532|PMID:32841044|PMID:33495597|PMID:33782553|PMID:37652022 8714363 Mybpc3 myosin binding protein C3 gene DOID:9000299 cardiac amyloidosis ISO RGD:1314284 D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: AMYLOID CARDIOMYOPATHY PMID:11499719|PMID:12974739|PMID:15519027|PMID:17560888|PMID:22464770|PMID:22763267|PMID:22995991|PMID:23217326|PMID:23233322|PMID:23820649|PMID:24033266|PMID:24055113|PMID:25637381|PMID:25741868|PMID:26090888|PMID:26332594|PMID:28492532|PMID:34097875 8714363 Mybpc3 myosin binding protein C3 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1314284 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:12818575|PMID:18258667|PMID:19574547|PMID:20624503|PMID:20800588|PMID:21551322|PMID:21959974|PMID:22958901|PMID:23299917|PMID:24033266|PMID:24093860|PMID:24111713|PMID:24510615|PMID:24793961|PMID:25132132|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26633542|PMID:27532257|PMID:27600940|PMID:27885498|PMID:28408708|PMID:28416588|PMID:28492532|PMID:28679633|PMID:29875424|PMID:30611859|PMID:30775854|PMID:30847666|PMID:30924982|PMID:31333075|PMID:31568572|PMID:32841044|PMID:33495596|PMID:33495597|PMID:34426522|PMID:34540771|PMID:35629155|PMID:35838873|PMID:37652022|PMID:925171 8714363 Mybpc3 myosin binding protein C3 gene DOID:9000590 Dyspnea ISO RGD:1314284 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Dyspnea PMID:17576681|PMID:203979|PMID:20433692|PMID:20800588|PMID:23283745|PMID:25351510|PMID:25741868|PMID:28138913|PMID:28492532|PMID:28615295|PMID:28679633|PMID:2943217|PMID:30645170|PMID:30775854|PMID:31028938|PMID:9536098 8714363 Mybpc3 myosin binding protein C3 gene DOID:9000596 Isolated Noncompaction of the Ventricular Myocardium ISO RGD:1314284 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Isolated Noncompaction of the Ventricular Myocardium PMID:25741868|PMID:27532257|PMID:31513939|PMID:36264615 8714363 Mybpc3 myosin binding protein C3 gene DOID:9001512 Familial Amyloid Polyneuropathies ISO RGD:1314284 D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Familial amyloid polyneuropathy PMID:11499719|PMID:12974739|PMID:15519027|PMID:17560888|PMID:22464770|PMID:22763267|PMID:22995991|PMID:23217326|PMID:23233322|PMID:23820649|PMID:24033266|PMID:24055113|PMID:25637381|PMID:25741868|PMID:26090888|PMID:26332594|PMID:28492532|PMID:34097875 8714363 Mybpc3 myosin binding protein C3 gene DOID:9001836 Cardiac Conduction Defect ISO RGD:1314284 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: cardiac conduction defect PMID:15519027|PMID:16858239|PMID:17576681|PMID:18273486|PMID:18533079|PMID:20215591|PMID:21415409|PMID:21499742|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835320|PMID:22361390|PMID:22555271|PMID:23054336|PMID:23861362|PMID:24033266|PMID:24111713|PMID:24510615|PMID:25031304|PMID:25351510|PMID:25740977|PMID:25741868|PMID:26914223|PMID:27483260|PMID:27532257|PMID:27688314|PMID:28138913|PMID:28356264|PMID:28492532|PMID:28658286|PMID:28679633|PMID:28824454|PMID:28840316|PMID:28916354|PMID:28971120|PMID:34097875|PMID:34137518|PMID:35208637|PMID:35653365|PMID:37652022|PMID:9536098 8714363 Mybpc3 myosin binding protein C3 gene DOID:9002554 Tachycardia ISO RGD:1314284 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Tachycardia PMID:17576681|PMID:203979|PMID:20433692|PMID:20800588|PMID:23283745|PMID:25351510|PMID:25741868|PMID:28138913|PMID:28492532|PMID:28615295|PMID:28679633|PMID:2943217|PMID:30645170|PMID:30775854|PMID:31028938|PMID:9536098 8714363 Mybpc3 myosin binding protein C3 gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:1314284 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:12707239|PMID:18533079|PMID:20215591|PMID:21499742|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835320|PMID:22361390|PMID:23861362|PMID:24033266|PMID:24111713|PMID:25132132|PMID:25351510|PMID:25741868|PMID:26914223|PMID:28356264|PMID:28492532|PMID:28840316|PMID:34097875|PMID:35208637|PMID:35653365|PMID:37652022 8714363 Mybpc3 myosin binding protein C3 gene DOID:9003163 Heart Block ISO RGD:1314284 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart | ClinVar Annotator: match by term: Heart block PMID:15519027|PMID:16858239|PMID:17576681|PMID:18273486|PMID:18533079|PMID:20215591|PMID:203979|PMID:20433692|PMID:20800588|PMID:21415409|PMID:21499742|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835320|PMID:22361390|PMID:22555271|PMID:23054336|PMID:23283745|PMID:23861362|PMID:24033266|PMID:24111713|PMID:24510615|PMID:25031304|PMID:25351510|PMID:25740977|PMID:25741868|PMID:26914223|PMID:27483260|PMID:27532257|PMID:27688314|PMID:28138913|PMID:28356264|PMID:28492532|PMID:28615295|PMID:28658286|PMID:28679633|PMID:28824454|PMID:28840316|PMID:28916354|PMID:28971120|PMID:2943217|PMID:30645170|PMID:30775854|PMID:31028938|PMID:34097875|PMID:34137518|PMID:35208637|PMID:35653365|PMID:37652022|PMID:9536098 8714363 Mybpc3 myosin binding protein C3 gene DOID:9003936 Cardiomegaly ISO RGD:1314284 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22189562 8714363 Mybpc3 myosin binding protein C3 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1314284 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Left ventricular hypertrophy PMID:11499719|PMID:12974739|PMID:15519027|PMID:16199542|PMID:16715312|PMID:16754800|PMID:18403758|PMID:18409188|PMID:18761664|PMID:18957093|PMID:19574547|PMID:20051424|PMID:20215591|PMID:21297165|PMID:21409595|PMID:21415409|PMID:21551322|PMID:21985754|PMID:22173300|PMID:22337857|PMID:22455086|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24503780|PMID:24510615|PMID:24774606|PMID:24795128|PMID:25031304|PMID:25335496|PMID:25351510|PMID:25637381|PMID:25741868|PMID:25892673|PMID:26223264|PMID:26271555|PMID:26467025|PMID:27066506|PMID:27435932|PMID:27532257|PMID:27576561|PMID:27600940|PMID:28356264|PMID:28408708|PMID:28492532|PMID:28518168|PMID:28615295|PMID:28640247|PMID:28790153|PMID:29121657|PMID:29686099|PMID:30025578|PMID:30550750|PMID:30847666|PMID:31006259|PMID:31513939|PMID:31737537|PMID:31771441|PMID:33495596|PMID:33495597|PMID:33673806|PMID:34542152|PMID:34598319|PMID:35176171|PMID:38002985|PMID:38540378 8714363 Mybpc3 myosin binding protein C3 gene DOID:9006205 Animal Disease Models ISO RGD:1314284 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25566086 8714363 Mybpc3 myosin binding protein C3 gene DOID:9007 sudden infant death syndrome ISO RGD:1314284 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:11499718|PMID:11499719|PMID:12707239|PMID:15519027|PMID:21959974|PMID:24033266|PMID:24510615|PMID:24793961|PMID:25741868|PMID:26914223|PMID:27532257|PMID:28492532|PMID:29121657|PMID:29758562|PMID:30165862|PMID:31028938|PMID:35027292|PMID:35581137|PMID:37652022|PMID:9048664|PMID:9562578 8714363 Mybpc3 myosin binding protein C3 gene DOID:9007033 Ventricular Premature Complexes ISO RGD:1314284 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Premature ventricular contraction | ClinVar Annotator: match by term: Ventricular extrasystoles PMID:11499718|PMID:11815426|PMID:12110947|PMID:12707239|PMID:12818575|PMID:12974739|PMID:15519027|PMID:16199542|PMID:16858239|PMID:17576681|PMID:20045868|PMID:203979|PMID:20433692|PMID:20435227|PMID:20800588|PMID:23283745|PMID:23782526|PMID:23861362|PMID:24033266|PMID:25351510|PMID:25741868|PMID:27600940|PMID:28138913|PMID:28492532|PMID:28615295|PMID:28679633|PMID:2943217|PMID:30645170|PMID:30775854|PMID:31028938|PMID:9536098 8714363 Mybpc3 myosin binding protein C3 gene DOID:9007288 Left Ventricular Noncompaction 1 ISO RGD:1314284 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: LEFT VENTRICULAR NONCOMPACTION 1 WITH OR WITHOUT CONGENITAL HEART DEFECTS PMID:11499718|PMID:12202917|PMID:15519027|PMID:203962|PMID:20474083|PMID:20864638|PMID:23549607|PMID:24510615|PMID:25031304|PMID:25714468|PMID:25741868|PMID:27532257|PMID:28492532|PMID:29875314|PMID:7493025 8714363 Mybpc3 myosin binding protein C3 gene DOID:9007614 Paroxysmal Atrial Fibrillation ISO RGD:1314284 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Paroxysmal atrial fibrillation PMID:12818575|PMID:14563344|PMID:15114369|PMID:15519027|PMID:20215591|PMID:22194935|PMID:22958901|PMID:23299917|PMID:23418287|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24503780|PMID:25741868|PMID:27153395|PMID:27532257|PMID:28492532|PMID:29367541|PMID:29540472|PMID:32880476|PMID:33782553|PMID:37652022 8714363 Mybpc3 myosin binding protein C3 gene DOID:9007820 Sudden Death ISO RGD:1314284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden unexplained death 8714363 Mybpc3 myosin binding protein C3 gene DOID:9007925 Sudden Cardiac Death ISO RGD:1314284 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20435227 8714420 Sypl2 synaptophysin like 2 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1603517 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 8714420 Sypl2 synaptophysin like 2 gene DOID:12849 autistic disorder ISO RGD:1603517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8714476 Slc6a6 solute carrier family 6 member 6 gene DOID:0060417 3p deletion syndrome ISO RGD:69004 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 8714476 Slc6a6 solute carrier family 6 member 6 gene DOID:10584 retinitis pigmentosa ISO RGD:62205 D RGD:9068941 20220825 MouseDO OMIM:268000 8714476 Slc6a6 solute carrier family 6 member 6 gene DOID:11372 megacolon ISO RGD:69004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8714476 Slc6a6 solute carrier family 6 member 6 gene DOID:4752 multiple system atrophy ISO RGD:62205 D RGD:9068941 20200609 RGD protein:decreased expression:frontal cortex: PMID:24304186|REF_RGD_ID:11553929 8714476 Slc6a6 solute carrier family 6 member 6 gene DOID:4752 multiple system atrophy ISO RGD:69004 D RGD:9068941 20200609 RGD protein:decreased expression:frontal cortex: PMID:24304186|REF_RGD_ID:11553929 8714476 Slc6a6 solute carrier family 6 member 6 gene DOID:8466 retinal degeneration ISO RGD:69004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal degeneration PMID:25741868|PMID:31345061|PMID:31903486 8714476 Slc6a6 solute carrier family 6 member 6 gene DOID:8501 fundus dystrophy ISO RGD:69004 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868 8714476 Slc6a6 solute carrier family 6 member 6 gene DOID:9004496 Hypertaurinuric Cardiomyopathy ISO RGD:69004 D RGD:7240710 20210707 OMIM 8714476 Slc6a6 solute carrier family 6 member 6 gene DOID:9004496 Hypertaurinuric Cardiomyopathy ISO RGD:69004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertaurinuric cardiomyopathy PMID:25741868|PMID:31345061|PMID:31903486 8714476 Slc6a6 solute carrier family 6 member 6 gene DOID:9007102 Myocardial Ischemia ISO RGD:69004 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8714507 Ing3 inhibitor of growth family member 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1321527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8714507 Ing3 inhibitor of growth family member 3 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1310556 D RGD:9068941 20200609 RGD PMID:25156538|REF_RGD_ID:9587823 8714532 Dxo decapping exoribonuclease gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1348619 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8714546 Cst7 cystatin F gene DOID:0080600 COVID-19 ISO RGD:1342542 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8714546 Cst7 cystatin F gene DOID:9000217 Stomach Neoplasms ISO RGD:1342542 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 8714554 Coq5 coenzyme Q5, methyltransferase gene DOID:0080154 short chain acyl-CoA dehydrogenase deficiency ISO RGD:1604266 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase PMID:28492532 8714554 Coq5 coenzyme Q5, methyltransferase gene DOID:0080600 COVID-19 ISO RGD:1604266 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8714554 Coq5 coenzyme Q5, methyltransferase gene DOID:0112138 primary coenzyme Q10 deficiency 9 ISO RGD:1604266 D RGD:7240710 20200930 OMIM 8714554 Coq5 coenzyme Q5, methyltransferase gene DOID:0112138 primary coenzyme Q10 deficiency 9 ISO RGD:1604266 D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: COQ5-related condition | ClinVar Annotator: match by term: Coenzyme q10 deficiency, primary, 9 PMID:25741868|PMID:28492532|PMID:29044765 8714554 Coq5 coenzyme Q5, methyltransferase gene DOID:1059 intellectual disability ISO RGD:1604266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 8714568 Stap2 signal transducing adaptor family member 2 gene DOID:13938 amenorrhea ISO RGD:1601996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8714588 Timm21 translocase of inner mitochondrial membrane 21 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1351951 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 8714588 Timm21 translocase of inner mitochondrial membrane 21 gene DOID:6420 pulmonary valve stenosis ISO RGD:1351951 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 8714588 Timm21 translocase of inner mitochondrial membrane 21 gene DOID:8445 intestinal volvulus ISO RGD:1351951 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 8714588 Timm21 translocase of inner mitochondrial membrane 21 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351951 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8714588 Timm21 translocase of inner mitochondrial membrane 21 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1351951 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 8714607 Dennd1c DENN domain containing 1C gene DOID:0080490 mucolipidosis type IV ISO RGD:1345609 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 8714643 Znf394 zinc finger protein 394 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1354133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8714690 Ttc29 tetratricopeptide repeat domain 29 gene DOID:0060742 methylmalonic acidemia cblA type ISO RGD:1605320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type PMID:15523652|PMID:15781192|PMID:28492532 8714690 Ttc29 tetratricopeptide repeat domain 29 gene DOID:0070183 spermatogenic failure 5 ISO RGD:1605320 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Male infertility with spermatogenesis disorder PMID:25741868|PMID:31735292|PMID:31735294|PMID:36346162 8714690 Ttc29 tetratricopeptide repeat domain 29 gene DOID:0111923 spermatogenic failure 42 ISO RGD:1605320 D RGD:7240710 20200226 OMIM 8714690 Ttc29 tetratricopeptide repeat domain 29 gene DOID:0111923 spermatogenic failure 42 ISO RGD:1605320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 42 PMID:31735292|PMID:31735294 8714706 Map4k1 mitogen-activated protein kinase kinase kinase kinase 1 gene DOID:224 transient cerebral ischemia treatment ISO RGD:1305463 D RGD:9068941 20200609 RGD PMID:18382279|PMID:18498770|REF_RGD_ID:7495845|REF_RGD_ID:7495847 8714741 Stoml2 stomatin like 2 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ISO RGD:1317972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 8714741 Stoml2 stomatin like 2 gene DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2 ISO RGD:1317972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 8714741 Stoml2 stomatin like 2 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1317972 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 8714741 Stoml2 stomatin like 2 gene DOID:0080942 anauxetic dysplasia ISO RGD:1317972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 8714741 Stoml2 stomatin like 2 gene DOID:0111065 autosomal recessive distal hereditary motor neuronopathy 2 ISO RGD:1317972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 8714741 Stoml2 stomatin like 2 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1317972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 8714741 Stoml2 stomatin like 2 gene DOID:2773 contact dermatitis ISO RGD:1317972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 8714741 Stoml2 stomatin like 2 gene DOID:607 paraplegia ISO RGD:1317972 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:23332916|PMID:23332917|PMID:28492532 8714741 Stoml2 stomatin like 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1317972 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8714741 Stoml2 stomatin like 2 gene DOID:9870 galactosemia ISO RGD:1317972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 8714770 Ggn gametogenetin gene DOID:0070568 spermatogenic failure 69 ISO RGD:1315571 D RGD:7240710 20220427 OMIM 8714770 Ggn gametogenetin gene DOID:0070568 spermatogenic failure 69 ISO RGD:1315571 D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: GGN-related condition | ClinVar Annotator: match by term: Spermatogenic failure 69 PMID:25741868|PMID:28492532|PMID:31985809|PMID:33108537 8714779 Ccdc116 coiled-coil domain containing 116 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1602289 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:21681106|PMID:25741868|PMID:31690835|PMID:38177409 8714779 Ccdc116 coiled-coil domain containing 116 gene DOID:11198 DiGeorge syndrome ISO RGD:1602289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 8714779 Ccdc116 coiled-coil domain containing 116 gene DOID:1324 lung cancer ISO RGD:1602289 D RGD:9068941 20220721 RGD DNA:SNP:promoter:rs3747093 (human) PMID:29193083|REF_RGD_ID:153297750 8714804 Mob3a MOB kinase activator 3A gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1317819 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 8714804 Mob3a MOB kinase activator 3A gene DOID:5339 cyclic hematopoiesis ISO RGD:1317819 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 8714804 Mob3a MOB kinase activator 3A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317819 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8714804 Mob3a MOB kinase activator 3A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317819 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8714840 Timm50 translocase of inner mitochondrial membrane 50 gene DOID:0061010 craniosynostosis 1 ISO RGD:1606193 D RGD:8554872 20241203 ClinVar ClinVar Annotator: match by term: TWIST1-related craniosynostosis PMID:28492532 8714840 Timm50 translocase of inner mitochondrial membrane 50 gene DOID:0061099 Carpenter syndrome 2 ISO RGD:1606193 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 8714840 Timm50 translocase of inner mitochondrial membrane 50 gene DOID:0070002 3-methylglutaconic aciduria type 9 ISO RGD:1606193 D RGD:7240710 20190315 OMIM 8714840 Timm50 translocase of inner mitochondrial membrane 50 gene DOID:0070002 3-methylglutaconic aciduria type 9 ISO RGD:1606193 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 9 | ClinVar Annotator: match by term: TIMM50-related condition PMID:25741868|PMID:27573165|PMID:28492532|PMID:30190335|PMID:31058414|PMID:32369862|PMID:38828998 8714840 Timm50 translocase of inner mitochondrial membrane 50 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1606193 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 8714840 Timm50 translocase of inner mitochondrial membrane 50 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1606193 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 8714840 Timm50 translocase of inner mitochondrial membrane 50 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1606193 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 8714840 Timm50 translocase of inner mitochondrial membrane 50 gene DOID:630 genetic disease ISO RGD:1606193 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:30765764|PMID:31058414|PMID:9536098 8714840 Timm50 translocase of inner mitochondrial membrane 50 gene DOID:700 mitochondrial metabolism disease ISO RGD:1606193 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:25741868|PMID:28492532|PMID:30190335|PMID:38828998 8714840 Timm50 translocase of inner mitochondrial membrane 50 gene DOID:9007385 Mitochondrial Encephalopathy ISO RGD:1606193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial encephalopathy PMID:25741868|PMID:30190335 8714840 Timm50 translocase of inner mitochondrial membrane 50 gene DOID:9269 maple syrup urine disease ISO RGD:1606193 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:28492532 8714840 Timm50 translocase of inner mitochondrial membrane 50 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1606193 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 8714882 Pdcd6ip programmed cell death 6 interacting protein gene DOID:0051040 primary autosomal recessive microcephaly 29 ISO RGD:68505 D RGD:7240710 20221012 OMIM 8714882 Pdcd6ip programmed cell death 6 interacting protein gene DOID:8398 osteoarthritis ISO RGD:68505 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 8714909 Pdlim3 PDZ and LIM domain 3 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:733817 D RGD:9068941 20220825 MouseDO 8714909 Pdlim3 PDZ and LIM domain 3 gene DOID:0050700 cardiomyopathy ISO RGD:1351346 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 8714909 Pdlim3 PDZ and LIM domain 3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1351346 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy 8714909 Pdlim3 PDZ and LIM domain 3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1351346 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:17254821|PMID:24033266|PMID:25741868|PMID:28492532 8714909 Pdlim3 PDZ and LIM domain 3 gene DOID:12849 autistic disorder ISO RGD:1351346 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8714909 Pdlim3 PDZ and LIM domain 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1351346 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:17254821|PMID:17576681|PMID:20801532|PMID:24033266|PMID:25741868|PMID:26656175|PMID:28166811|PMID:28492532|PMID:29511324|PMID:9536098 8714909 Pdlim3 PDZ and LIM domain 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1351346 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:16199547|PMID:17254821|PMID:17576681|PMID:20801532|PMID:24033266|PMID:25163546|PMID:25741868|PMID:26656175|PMID:28166811|PMID:28492532|PMID:29511324|PMID:31983221|PMID:9536098 8714909 Pdlim3 PDZ and LIM domain 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1351346 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:16199547|PMID:17254821|PMID:17576681|PMID:20801532|PMID:24033266|PMID:25163546|PMID:25741868|PMID:26656175|PMID:28166811|PMID:28492532|PMID:29511324|PMID:31983221|PMID:32746448|PMID:9536098 8714909 Pdlim3 PDZ and LIM domain 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1351346 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:16199547|PMID:17254821|PMID:17576681|PMID:20801532|PMID:24033266|PMID:25163546|PMID:25741868|PMID:26656175|PMID:28166811|PMID:28492532|PMID:29511324|PMID:31983221|PMID:32746448|PMID:34802252|PMID:9536098 8714909 Pdlim3 PDZ and LIM domain 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1351346 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:16199547|PMID:17254821|PMID:17576681|PMID:20801532|PMID:24033266|PMID:25163546|PMID:25741868|PMID:26656175|PMID:28166811|PMID:28492532|PMID:29511324|PMID:31983221|PMID:32746448|PMID:33996946|PMID:34802252|PMID:9536098 8714909 Pdlim3 PDZ and LIM domain 3 gene DOID:397 restrictive cardiomyopathy ISO RGD:1351346 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Restrictive cardiomyopathy PMID:25741868 8714909 Pdlim3 PDZ and LIM domain 3 gene DOID:9009070 Herpes Simplex Encephalitis 1 ISO RGD:1351346 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 PMID:15042513|PMID:25118264|PMID:25629076|PMID:28492532 8714948 Npr3 natriuretic peptide receptor 3 gene DOID:0080001 bone disease ISO RGD:11008 D RGD:9068941 20220825 MouseDO 8714948 Npr3 natriuretic peptide receptor 3 gene DOID:10763 hypertension ISO RGD:731641 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-55C>A (human) PMID:12872042|REF_RGD_ID:1580175 8714948 Npr3 natriuretic peptide receptor 3 gene DOID:17 musculoskeletal system disease ISO RGD:11008 D RGD:9068941 20200609 RGD DNA:deletion, missense mutation, nonsense mutation:cds:c.195_232del, c.283C>T, c.502C>A (mouse) PMID:10468599|REF_RGD_ID:1580774 8714948 Npr3 natriuretic peptide receptor 3 gene DOID:2476 hereditary spastic paraplegia ISO RGD:731641 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia PMID:28492532 8714948 Npr3 natriuretic peptide receptor 3 gene DOID:630 genetic disease ISO RGD:731641 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8714948 Npr3 natriuretic peptide receptor 3 gene DOID:8947 diabetic retinopathy ISO RGD:3196 D RGD:9068941 20200609 RGD mRNA:decreased expression:retina (rat) PMID:15789000|REF_RGD_ID:1580773 8714948 Npr3 natriuretic peptide receptor 3 gene DOID:9002060 BOUDIN-MORTIER SYNDROME ISO RGD:731641 D RGD:7240710 20211020 OMIM 8714948 Npr3 natriuretic peptide receptor 3 gene DOID:9002060 BOUDIN-MORTIER SYNDROME ISO RGD:731641 D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: Boudin-Mortier syndrome | ClinVar Annotator: match by term: NPR3-related condition PMID:24559625|PMID:25741868|PMID:28492532|PMID:30032985 8714948 Npr3 natriuretic peptide receptor 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:731641 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19208208 8714948 Npr3 natriuretic peptide receptor 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8714948 Npr3 natriuretic peptide receptor 3 gene DOID:9004657 Weight Gain ISO RGD:731641 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 8714948 Npr3 natriuretic peptide receptor 3 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3196 D RGD:9068941 20200609 RGD PMID:15337698|REF_RGD_ID:1580149 8714999 Dtna dystrobrevin alpha gene DOID:0050700 cardiomyopathy ISO RGD:1343196 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 8714999 Dtna dystrobrevin alpha gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1343196 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:31690835 8714999 Dtna dystrobrevin alpha gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1343196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:28492532 8714999 Dtna dystrobrevin alpha gene DOID:1059 intellectual disability ISO RGD:1343196 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8714999 Dtna dystrobrevin alpha gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1343196 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532|PMID:30086531|PMID:31568572 8714999 Dtna dystrobrevin alpha gene DOID:12930 dilated cardiomyopathy ISO RGD:1343196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 8714999 Dtna dystrobrevin alpha gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1343196 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:21520333|PMID:25741868|PMID:28492532 8714999 Dtna dystrobrevin alpha gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1343196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:25741868|PMID:28492532 8714999 Dtna dystrobrevin alpha gene DOID:9001244 Myopathy with Myalgia, increased Serum Creatine Kinase, and with or without Episodic Rhabdomyolysis 1 ISO RGD:1343196 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis PMID:25741868|PMID:36799992 8714999 Dtna dystrobrevin alpha gene DOID:9005141 Ventricular Tachycardia ISO RGD:1343196 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:25741868|PMID:28492532 8714999 Dtna dystrobrevin alpha gene DOID:9007288 Left Ventricular Noncompaction 1 ISO RGD:1343196 D RGD:7240710 20180425 OMIM 8714999 Dtna dystrobrevin alpha gene DOID:9007288 Left Ventricular Noncompaction 1 ISO RGD:1343196 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 1 PMID:11238270|PMID:16199547|PMID:17576681|PMID:21520333|PMID:23861362|PMID:24014171|PMID:24033266|PMID:25305078|PMID:25741868|PMID:26498160|PMID:28492532|PMID:29118297|PMID:29247119|PMID:29875424|PMID:30086531|PMID:31568572|PMID:32746448|PMID:33500567|PMID:33789662|PMID:35087879|PMID:35148685|PMID:37673932|PMID:9536098 8714999 Dtna dystrobrevin alpha gene DOID:9009249 Myopathy with Myalgia, increased Serum Creatine Kinase, and with or without Episodic Rhabdomyolysis 2 ISO RGD:1343196 D RGD:7240710 20241030 OMIM 8714999 Dtna dystrobrevin alpha gene DOID:9009249 Myopathy with Myalgia, increased Serum Creatine Kinase, and with or without Episodic Rhabdomyolysis 2 ISO RGD:1343196 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: MYOPATHY WITH MYALGIA, INCREASED SERUM CREATINE KINASE, AND WITH OR WITHOUT EPISODIC RHABDOMYOLYSIS 2 PMID:36799992 8714999 Dtna dystrobrevin alpha gene DOID:9849 Meniere's disease ISO RGD:1343196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meniere disease PMID:25305078|PMID:25741868|PMID:28492532 8715103 Oxnad1 oxidoreductase NAD binding domain containing 1 gene DOID:0060417 3p deletion syndrome ISO RGD:1603935 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 8715118 Abi1 abl interactor 1 gene DOID:0070239 primary coenzyme Q10 deficiency 2 ISO RGD:1604650 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness-encephaloneuropathy-obesity-valvulopathy syndrome PMID:25741868 8715118 Abi1 abl interactor 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1604650 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 8715172 Rhobtb3 Rho related BTB domain containing 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1323267 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8715172 Rhobtb3 Rho related BTB domain containing 3 gene DOID:0080600 COVID-19 ISO RGD:1323267 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8715172 Rhobtb3 Rho related BTB domain containing 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323267 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8715172 Rhobtb3 Rho related BTB domain containing 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1323267 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8715189 Pde6c phosphodiesterase 6C gene DOID:0050572 cone-rod dystrophy ISO RGD:1320406 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive PMID:28492532 8715189 Pde6c phosphodiesterase 6C gene DOID:0050795 cone dystrophy ISO RGD:1320406 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:25741868|PMID:36909829 8715189 Pde6c phosphodiesterase 6C gene DOID:0060748 familial temporal lobe epilepsy 1 ISO RGD:1320406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 PMID:24206907|PMID:28492532 8715189 Pde6c phosphodiesterase 6C gene DOID:13911 achromatopsia ISO RGD:1320406 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Achromatopsia PMID:10393054|PMID:16199547|PMID:17576681|PMID:18614542|PMID:19615668|PMID:19887631|PMID:23776498|PMID:25741868|PMID:26103963|PMID:28041643|PMID:28492532|PMID:28704108|PMID:30080950|PMID:3182623|PMID:32531858|PMID:33001157|PMID:33546218|PMID:9536098 8715189 Pde6c phosphodiesterase 6C gene DOID:5723 optic atrophy ISO RGD:1320406 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:25741868|PMID:28492532 8715189 Pde6c phosphodiesterase 6C gene DOID:630 genetic disease ISO RGD:1320406 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8715189 Pde6c phosphodiesterase 6C gene DOID:670 amphetamine abuse ISO RGD:1320406 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 8715189 Pde6c phosphodiesterase 6C gene DOID:8501 fundus dystrophy ISO RGD:1320406 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16199547|PMID:19615668|PMID:19887631|PMID:23776498|PMID:25741868|PMID:26103963|PMID:26747767|PMID:28492532|PMID:30080950|PMID:3182623|PMID:31964843|PMID:32531858|PMID:35260635 8715189 Pde6c phosphodiesterase 6C gene DOID:9003656 Achromatopsia 1 ISO RGD:1320406 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Rod monochromatism PMID:19615668|PMID:28492532 8715189 Pde6c phosphodiesterase 6C gene DOID:9007377 Achromatopsia 5 ISO RGD:1320406 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Achromatopsia 5 PMID:16199547|PMID:19615668|PMID:19887631|PMID:21127010|PMID:23776498|PMID:25741868|PMID:26103963|PMID:28492532|PMID:30080950|PMID:31964843|PMID:35260635 8715189 Pde6c phosphodiesterase 6C gene DOID:9008296 Eye Abnormalities ISO RGD:1320406 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:25741868 8715189 Pde6c phosphodiesterase 6C gene DOID:9008571 Cone Dystrophy 4 ISO RGD:1320406 D RGD:7240710 20180130 OMIM 8715189 Pde6c phosphodiesterase 6C gene DOID:9008571 Cone Dystrophy 4 ISO RGD:1320406 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Cone dystrophy 4 | ClinVar Annotator: match by term: PDE6C-related condition PMID:10393054|PMID:16199547|PMID:17576681|PMID:18614542|PMID:19615668|PMID:19887631|PMID:20301591|PMID:21127010|PMID:23776498|PMID:25326637|PMID:25741868|PMID:26103963|PMID:27124789|PMID:28041643|PMID:28492532|PMID:30080950|PMID:3182623|PMID:31964843|PMID:32913385|PMID:33001157|PMID:33546218|PMID:35260635|PMID:9536098 8715218 Rmnd1 required for meiotic nuclear division 1 homolog gene DOID:0060424 chromosome 6q24-q25 deletion syndrome ISO RGD:1319942 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome PMID:25741868|PMID:38177409 8715218 Rmnd1 required for meiotic nuclear division 1 homolog gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1319942 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Mitochondrial oxidative phosphorylation disorder PMID:24033266|PMID:25058219|PMID:25326635|PMID:25604853|PMID:25741868|PMID:26395190|PMID:27159321|PMID:27350610|PMID:27412952|PMID:27843092|PMID:28492532|PMID:28939701|PMID:29671881|PMID:31506229|PMID:31568715|PMID:32576985 8715218 Rmnd1 required for meiotic nuclear division 1 homolog gene DOID:0111112 nephronophthisis 1 ISO RGD:1319942 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:24033266|PMID:25058219|PMID:25326635|PMID:25604853|PMID:25741868|PMID:26395190|PMID:27159321|PMID:27350610|PMID:27412952|PMID:27843092|PMID:28492532|PMID:28939701|PMID:29671881|PMID:31506229|PMID:31568715|PMID:32576985 8715218 Rmnd1 required for meiotic nuclear division 1 homolog gene DOID:0111481 combined oxidative phosphorylation deficiency 11 ISO RGD:1319942 D RGD:7240710 20180130 OMIM 8715218 Rmnd1 required for meiotic nuclear division 1 homolog gene DOID:0111481 combined oxidative phosphorylation deficiency 11 ISO RGD:1319942 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 11 | ClinVar Annotator: match by term: RMND1-related condition PMID:17576681|PMID:18835491|PMID:23022098|PMID:23022099|PMID:24033266|PMID:25058219|PMID:25326635|PMID:25604853|PMID:25741868|PMID:26238252|PMID:26395190|PMID:27159321|PMID:27350610|PMID:27412952|PMID:27843092|PMID:28492532|PMID:28939701|PMID:29071585|PMID:29671881|PMID:31506229|PMID:31568715|PMID:31981491|PMID:32576985|PMID:9536098 8715218 Rmnd1 required for meiotic nuclear division 1 homolog gene DOID:12712 nephronophthisis ISO RGD:1319942 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:24033266|PMID:25058219|PMID:25326635|PMID:25604853|PMID:25741868|PMID:26395190|PMID:27159321|PMID:27350610|PMID:27412952|PMID:27843092|PMID:28492532|PMID:28939701|PMID:29671881|PMID:31506229|PMID:31568715|PMID:32576985 8715218 Rmnd1 required for meiotic nuclear division 1 homolog gene DOID:630 genetic disease ISO RGD:1319942 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:24033266|PMID:25058219|PMID:25326635|PMID:25604853|PMID:25741868|PMID:26395190|PMID:27159321|PMID:27350610|PMID:27412952|PMID:27843092|PMID:28492532|PMID:28939701|PMID:29071585|PMID:29671881|PMID:31506229|PMID:31568715|PMID:32576985|PMID:9536098 8715218 Rmnd1 required for meiotic nuclear division 1 homolog gene DOID:700 mitochondrial metabolism disease ISO RGD:1319942 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:23022098|PMID:24033266|PMID:25058219|PMID:25326635|PMID:25604853|PMID:25741868|PMID:26238252|PMID:26395190|PMID:27159321|PMID:27350610|PMID:27412952|PMID:27843092|PMID:28492532|PMID:28939701|PMID:29071585|PMID:29671881|PMID:31506229|PMID:31568715|PMID:32576985 8715218 Rmnd1 required for meiotic nuclear division 1 homolog gene DOID:9006534 Nervous System Malformations ISO RGD:1319942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:18835491|PMID:23022099|PMID:25741868 8715218 Rmnd1 required for meiotic nuclear division 1 homolog gene DOID:9008939 Breast Neoplasms ISO RGD:1319942 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 8715245 Zfc3h1 zinc finger C3H1-type containing gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1606690 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8715245 Zfc3h1 zinc finger C3H1-type containing gene DOID:9007661 Dwarfism ISO RGD:1606690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 8715298 Ptpro protein tyrosine phosphatase receptor type O gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:731757 D RGD:8554872 20230829 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 PMID:28492532 8715298 Ptpro protein tyrosine phosphatase receptor type O gene DOID:0080384 nephrotic syndrome type 6 ISO RGD:731757 D RGD:7240710 20180130 OMIM 8715298 Ptpro protein tyrosine phosphatase receptor type O gene DOID:0080384 nephrotic syndrome type 6 ISO RGD:731757 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 6 | ClinVar Annotator: match by term: PTPRO-related condition PMID:21722858|PMID:25741868|PMID:28106320|PMID:28492532 8715298 Ptpro protein tyrosine phosphatase receptor type O gene DOID:0080600 COVID-19 ISO RGD:731757 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8715298 Ptpro protein tyrosine phosphatase receptor type O gene DOID:1909 melanoma ISO RGD:731757 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21499247 8715298 Ptpro protein tyrosine phosphatase receptor type O gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731757 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8715298 Ptpro protein tyrosine phosphatase receptor type O gene DOID:9007188 Liver Neoplasms ISO RGD:731757 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941|PMID:20163174 8715336 Perp p53 apoptosis effector related to PMP22 gene DOID:630 genetic disease ISO RGD:1321113 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8715336 Perp p53 apoptosis effector related to PMP22 gene DOID:9000198 Erythrokeratodermia Variabilis et Progressiva 7 ISO RGD:1321113 D RGD:7240710 20210303 OMIM 8715336 Perp p53 apoptosis effector related to PMP22 gene DOID:9000198 Erythrokeratodermia Variabilis et Progressiva 7 ISO RGD:1321113 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 7 | ClinVar Annotator: match by term: PERP-related condition PMID:30321533|PMID:31898316 8715336 Perp p53 apoptosis effector related to PMP22 gene DOID:9005986 Familial Behcet-Like Autoinflammatory Syndrome ISO RGD:1321113 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 8715336 Perp p53 apoptosis effector related to PMP22 gene DOID:9008575 Olmsted Syndrome 2 ISO RGD:1321113 D RGD:7240710 20210303 OMIM 8715336 Perp p53 apoptosis effector related to PMP22 gene DOID:9008575 Olmsted Syndrome 2 ISO RGD:1321113 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Olmsted syndrome 2 PMID:30321533|PMID:31361044 8715346 Znf275 zinc finger protein 275 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 8715346 Znf275 zinc finger protein 275 gene DOID:12849 autistic disorder ISO RGD:1347058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8715372 Aass aminoadipate-semialdehyde synthase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1321929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8715372 Aass aminoadipate-semialdehyde synthase gene DOID:630 genetic disease ISO RGD:1321929 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:36413997 8715372 Aass aminoadipate-semialdehyde synthase gene DOID:9002075 Saccharopinuria ISO RGD:1321929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Saccharopinuria PMID:25741868|PMID:28492532 8715372 Aass aminoadipate-semialdehyde synthase gene DOID:9002093 Lysine Intolerance ISO RGD:1321929 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Lysine intolerance PMID:25741868|PMID:28492532 8715372 Aass aminoadipate-semialdehyde synthase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1321929 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 8715372 Aass aminoadipate-semialdehyde synthase gene DOID:9274 hyperlysinemia ISO RGD:1321929 D RGD:7240710 20180130 OMIM 8715372 Aass aminoadipate-semialdehyde synthase gene DOID:9274 hyperlysinemia ISO RGD:1321929 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hyperlysinemia PMID:10775527|PMID:23570448|PMID:23890588|PMID:25741868|PMID:28492532|PMID:36983702|PMID:934735 8715403 Cdk18 cyclin dependent kinase 18 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1319906 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 8715403 Cdk18 cyclin dependent kinase 18 gene DOID:12849 autistic disorder ISO RGD:1319906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8715403 Cdk18 cyclin dependent kinase 18 gene DOID:1540 parathyroid carcinoma ISO RGD:1319906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8715403 Cdk18 cyclin dependent kinase 18 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1319906 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8715403 Cdk18 cyclin dependent kinase 18 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8715438 Peli3 pellino E3 ubiquitin protein ligase family member 3 gene DOID:0061060 immunodeficiency 90 ISO RGD:1605259 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8715438 Peli3 pellino E3 ubiquitin protein ligase family member 3 gene DOID:0111238 congenital muscular dystrophy-dystroglycanopathy type A13 ISO RGD:1605259 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 PMID:22219654|PMID:28492532 8715438 Peli3 pellino E3 ubiquitin protein ligase family member 3 gene DOID:1059 intellectual disability ISO RGD:1605259 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8715438 Peli3 pellino E3 ubiquitin protein ligase family member 3 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1605259 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8715438 Peli3 pellino E3 ubiquitin protein ligase family member 3 gene DOID:2746 glycogen storage disease V ISO RGD:1605259 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8715438 Peli3 pellino E3 ubiquitin protein ligase family member 3 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1605259 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8715454 Akap1 A-kinase anchoring protein 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1343676 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 8715454 Akap1 A-kinase anchoring protein 1 gene DOID:10283 prostate cancer ISO RGD:1343676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8715454 Akap1 A-kinase anchoring protein 1 gene DOID:2316 brain ischemia ISO RGD:620826 D RGD:9068941 20200609 RGD protein:altered expression:parietal cortex, hippocampus (rat) PMID:18323779|REF_RGD_ID:2313128 8715454 Akap1 A-kinase anchoring protein 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1343676 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 PMID:38922859 8715454 Akap1 A-kinase anchoring protein 1 gene DOID:9970 obesity ISO RGD:1343676 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20975297 8715479 Itgb2 integrin subunit beta 2 gene DOID:0040084 Streptococcus pneumonia susceptibility ISO RGD:1313695 D RGD:9068941 20210709 RGD PMID:11390487|REF_RGD_ID:127345090 8715479 Itgb2 integrin subunit beta 2 gene DOID:0050167 autoimmune polyendocrine syndrome type 1 ISO RGD:1313694 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 PMID:28492532 8715479 Itgb2 integrin subunit beta 2 gene DOID:0060180 colitis ISO RGD:1313695 D RGD:9068941 20200609 RGD associated with Spirochaetales infections PMID:11031123|REF_RGD_ID:6482227 8715479 Itgb2 integrin subunit beta 2 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1313694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16764927 8715479 Itgb2 integrin subunit beta 2 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1313694 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 8715479 Itgb2 integrin subunit beta 2 gene DOID:0110266 cataract 9 multiple types ISO RGD:1313694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 8715479 Itgb2 integrin subunit beta 2 gene DOID:0110910 leukocyte adhesion deficiency 1 ISO RGD:1313694 D RGD:7240710 20180130 OMIM 8715479 Itgb2 integrin subunit beta 2 gene DOID:0110910 leukocyte adhesion deficiency 1 ISO RGD:1313694 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 PMID:10712675|PMID:10886250|PMID:11703376|PMID:11882363|PMID:12377933|PMID:12488604|PMID:1346132|PMID:1346613|PMID:1347532|PMID:14512306|PMID:1590804|PMID:16199547|PMID:16595236|PMID:1694220|PMID:17576681|PMID:17875809|PMID:18675632|PMID:19171538|PMID:1968911|PMID:20549317|PMID:20807363|PMID:21103413|PMID:21195692|PMID:22134107|PMID:24033266|PMID:24338230|PMID:25135596|PMID:25514840|PMID:25703682|PMID:25741868|PMID:25858935|PMID:26497373|PMID:26639818|PMID:27492259|PMID:28445705|PMID:28492532|PMID:29548898|PMID:30041527|PMID:30412664|PMID:30919141|PMID:32279896|PMID:33391282|PMID:36353617|PMID:6142255|PMID:7143170|PMID:7686755|PMID:7705401|PMID:7901025|PMID:9536098|PMID:9884339 8715479 Itgb2 integrin subunit beta 2 gene DOID:0110910 leukocyte adhesion deficiency 1 susceptibility ISO RGD:1313694 D RGD:9068941 20210702 RGD DNA:polymorphisms:multiple (human) PMID:20549317|REF_RGD_ID:6482224 8715479 Itgb2 integrin subunit beta 2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1313694 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:25741868 8715479 Itgb2 integrin subunit beta 2 gene DOID:10952 nephritis treatment ISO RGD:1305581 D RGD:9068941 20200609 RGD PMID:8773354|REF_RGD_ID:8547716 8715479 Itgb2 integrin subunit beta 2 gene DOID:1205 allergic disease ISO RGD:1313694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 8715479 Itgb2 integrin subunit beta 2 gene DOID:12297 Vogt-Koyanagi-Harada disease ISO RGD:1313694 D RGD:9068941 20200609 RGD protein:decreased expression:T cell PMID:21297967|REF_RGD_ID:6482200 8715479 Itgb2 integrin subunit beta 2 gene DOID:12849 autistic disorder ISO RGD:1313694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8715479 Itgb2 integrin subunit beta 2 gene DOID:13241 Behcet's disease ISO RGD:1313694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8712863 8715479 Itgb2 integrin subunit beta 2 gene DOID:182 calcinosis ISO RGD:1313694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 8715479 Itgb2 integrin subunit beta 2 gene DOID:2527 nephrosis ISO RGD:1313694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12845231 8715479 Itgb2 integrin subunit beta 2 gene DOID:2723 dermatitis ISO RGD:1313694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9653089 8715479 Itgb2 integrin subunit beta 2 gene DOID:2921 glomerulonephritis ISO RGD:1313695 D RGD:9068941 20200609 RGD PMID:15277234|PMID:19752320|REF_RGD_ID:6907051|REF_RGD_ID:6907066 8715479 Itgb2 integrin subunit beta 2 gene DOID:2938 Epstein-Barr virus infectious disease ISO RGD:1313694 D RGD:9068941 20210702 RGD associated with Hodgkin's lymphoma;mRNA, protein:increased expression:lymph node (human) PMID:25041527|REF_RGD_ID:127285814 8715479 Itgb2 integrin subunit beta 2 gene DOID:4079 heart valve disease ISO RGD:1313694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 8715479 Itgb2 integrin subunit beta 2 gene DOID:4247 coronary restenosis ISO RGD:1313694 D RGD:9068941 20200609 RGD PMID:11703955|REF_RGD_ID:1581185 8715479 Itgb2 integrin subunit beta 2 gene DOID:4481 allergic rhinitis treatment ISO RGD:1305581 D RGD:9068941 20210709 RGD PMID:12046991|REF_RGD_ID:9698435 8715479 Itgb2 integrin subunit beta 2 gene DOID:4989 pancreatitis ISO RGD:1313695 D RGD:9068941 20200609 RGD PMID:22490516|REF_RGD_ID:6482196 8715479 Itgb2 integrin subunit beta 2 gene DOID:552 pneumonia ISO RGD:1305581 D RGD:9068941 20200609 RGD PMID:10030843|REF_RGD_ID:6482228 8715479 Itgb2 integrin subunit beta 2 gene DOID:552 pneumonia ISO RGD:1313694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 8715479 Itgb2 integrin subunit beta 2 gene DOID:630 genetic disease ISO RGD:1313694 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10886250|PMID:11703376|PMID:12488604|PMID:1346132|PMID:17875809|PMID:22134107|PMID:25514840|PMID:25703682|PMID:25741868|PMID:28492532|PMID:30412664|PMID:7143170|PMID:7686755|PMID:7705401 8715479 Itgb2 integrin subunit beta 2 gene DOID:6612 leukocyte adhesion deficiency ISO RGD:1313694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 8715479 Itgb2 integrin subunit beta 2 gene DOID:820 myocarditis ISO RGD:1313694 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:9556870|REF_RGD_ID:13702915 8715479 Itgb2 integrin subunit beta 2 gene DOID:8283 peritonitis ameliorates ISO RGD:620535 D RGD:9068941 20210709 RGD PMID:18239087|REF_RGD_ID:127345091 8715479 Itgb2 integrin subunit beta 2 gene DOID:8549 chronic ulcer of skin ISO RGD:1313694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9653089 8715479 Itgb2 integrin subunit beta 2 gene DOID:8893 psoriasis ISO RGD:1313695 D RGD:9068941 20200609 RGD PMID:19812597|REF_RGD_ID:6482221 8715479 Itgb2 integrin subunit beta 2 gene DOID:8893 psoriasis ISO RGD:1313695 D RGD:9068941 20220825 MouseDO OMIM:177900 | OMIM:601454 | OMIM:602723 | OMIM:603935 | OMIM:604316 | OMIM:605364 | OMIM:605606 | OMIM:607857 | OMIM:610707 | OMIM:612410 | OMIM:612599 | OMIM:612950 | OMIM:614070 | OMIM:616106 8715479 Itgb2 integrin subunit beta 2 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1313694 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 8715479 Itgb2 integrin subunit beta 2 gene DOID:9000146 Plaque, Atherosclerotic ISO RGD:1313694 D RGD:9068941 20200609 RGD mRNA:increased expression:artery PMID:26188538|REF_RGD_ID:11085957 8715479 Itgb2 integrin subunit beta 2 gene DOID:9001004 Chronic Periodontitis ISO RGD:1313694 D RGD:9068941 20200609 RGD mRNA:increased expression:gingival tissues PMID:21382035|REF_RGD_ID:6480655 8715479 Itgb2 integrin subunit beta 2 gene DOID:9001341 Chloracne ISO RGD:1313694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 8715479 Itgb2 integrin subunit beta 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1313694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8715479 Itgb2 integrin subunit beta 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1313694 D RGD:9068941 20231102 RGD mRNA:increased expression:nephron tubule (human) PMID:35592524|REF_RGD_ID:401851916 8715479 Itgb2 integrin subunit beta 2 gene DOID:9002265 Kidney Neoplasms ISO RGD:1313695 D RGD:9068941 20200609 RGD PMID:11907109|REF_RGD_ID:6907072 8715479 Itgb2 integrin subunit beta 2 gene DOID:9002457 Experimental Arthritis ISO RGD:1305581 D RGD:9068941 20200609 RGD PMID:8881759|REF_RGD_ID:6482229 8715479 Itgb2 integrin subunit beta 2 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1313695 D RGD:9068941 20200609 RGD PMID:18615643|REF_RGD_ID:6482197 8715479 Itgb2 integrin subunit beta 2 gene DOID:9002805 Enterocolitis ISO RGD:1313694 D RGD:9068941 20200609 RGD associated with Hirschsprung Disease;DNA:polymorphisms:multiple PMID:18675632|REF_RGD_ID:6482226 8715479 Itgb2 integrin subunit beta 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8715479 Itgb2 integrin subunit beta 2 gene DOID:9004610 Acute Lung Injury ISO RGD:1305581 D RGD:9068941 20200609 RGD PMID:1374449|REF_RGD_ID:6482199 8715479 Itgb2 integrin subunit beta 2 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1305581 D RGD:9068941 20200609 RGD PMID:11007822|REF_RGD_ID:6907073 8715479 Itgb2 integrin subunit beta 2 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1313694 D RGD:9068941 20200609 RGD Associated with renal transplant patients PMID:20504838|REF_RGD_ID:6907049 8715479 Itgb2 integrin subunit beta 2 gene DOID:9007502 Brain Neoplasms ISO RGD:1313694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935819 8715479 Itgb2 integrin subunit beta 2 gene DOID:9009184 Eosinophilic Myocarditis treatment ISO RGD:1313695 D RGD:9068941 20200609 RGD PMID:9822282|REF_RGD_ID:13702914 8715479 Itgb2 integrin subunit beta 2 gene DOID:9065 leishmaniasis ameliorates ISO RGD:1313695 D RGD:9068941 20210702 RGD PMID:14502280|REF_RGD_ID:127285813 8715479 Itgb2 integrin subunit beta 2 gene DOID:9263 homocystinuria ISO RGD:1313694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 8715479 Itgb2 integrin subunit beta 2 gene DOID:9498 pulmonary eosinophilia ISO RGD:1313695 D RGD:9068941 20210709 RGD protein:increased expression:lung (mouse) PMID:7743671|REF_RGD_ID:8547590 8715479 Itgb2 integrin subunit beta 2 gene DOID:9500 leukocyte disease ISO RGD:1313694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2880869|PMID:9653089 8715479 Itgb2 integrin subunit beta 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1313694 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8715509 CUNH22orf23 chromosome unknown C22orf23 homolog gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1351784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8715509 CUNH22orf23 chromosome unknown C22orf23 homolog gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1351784 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8715509 CUNH22orf23 chromosome unknown C22orf23 homolog gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1351784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8715509 CUNH22orf23 chromosome unknown C22orf23 homolog gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1351784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8715528 Otoa otoancorin gene DOID:0050439 Usher syndrome ISO RGD:1348640 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:23173898|PMID:24033266|PMID:25741868|PMID:28492532 8715528 Otoa otoancorin gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1348640 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:23173898|PMID:24033266|PMID:28492532|PMID:30303587 8715528 Otoa otoancorin gene DOID:0110480 autosomal recessive nonsyndromic deafness 22 ISO RGD:1348640 D RGD:7240710 20180130 OMIM 8715528 Otoa otoancorin gene DOID:0110480 autosomal recessive nonsyndromic deafness 22 ISO RGD:1348640 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 22 | ClinVar Annotator: match by term: OTOA-related condition PMID:11972037|PMID:16199547|PMID:17576681|PMID:19888295|PMID:23173898|PMID:23690975|PMID:24033266|PMID:24963352|PMID:25373420|PMID:25741868|PMID:26434960|PMID:26467025|PMID:26969326|PMID:27068579|PMID:28492532|PMID:29196752|PMID:30303587|PMID:30311386|PMID:30740825|PMID:30828794|PMID:31028847|PMID:31152317|PMID:31527525|PMID:31827275|PMID:33492714|PMID:33597575|PMID:33879512|PMID:34175691|PMID:34416374|PMID:34519870|PMID:35802133|PMID:36633841|PMID:37114731|PMID:9536098 8715528 Otoa otoancorin gene DOID:0110520 autosomal recessive nonsyndromic deafness 7 ISO RGD:1348640 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 7 PMID:35802133|PMID:36633841 8715528 Otoa otoancorin gene DOID:0110535 autosomal recessive nonsyndromic deafness 9 ISO RGD:1348640 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 9 PMID:25741868 8715528 Otoa otoancorin gene DOID:630 genetic disease ISO RGD:1348640 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:26969326|PMID:28492532|PMID:30311386 8715528 Otoa otoancorin gene DOID:9004538 Hearing Loss ISO RGD:1348640 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:23173898|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30303587|PMID:30311386 8715528 Otoa otoancorin gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1348640 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: nonsyndromic sensorineural hearing loss PMID:25741868 8715599 B3gat3 beta-1,3-glucuronyltransferase 3 gene DOID:0080575 Larsen-like syndrome B3GAT3 type ISO RGD:1323698 D RGD:7240710 20180307 OMIM 8715599 B3gat3 beta-1,3-glucuronyltransferase 3 gene DOID:0080575 Larsen-like syndrome B3GAT3 type ISO RGD:1323698 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type | ClinVar Annotator: match by term: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITHOUT CONGENITAL HEART DEFECTS | ClinVar Annotator: match by term: Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects PMID:16199547|PMID:17576681|PMID:21763480|PMID:24668659|PMID:25326635|PMID:25741868|PMID:25893793|PMID:26633542|PMID:26754439|PMID:27271787|PMID:27871226|PMID:28229453|PMID:28492532|PMID:29318063|PMID:31196143|PMID:31438591|PMID:31980526|PMID:31988067|PMID:34537402|PMID:35000503|PMID:35151321|PMID:9536098 8715599 B3gat3 beta-1,3-glucuronyltransferase 3 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1323698 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8715599 B3gat3 beta-1,3-glucuronyltransferase 3 gene DOID:1059 intellectual disability ISO RGD:1323698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8715599 B3gat3 beta-1,3-glucuronyltransferase 3 gene DOID:630 genetic disease ISO RGD:1323698 D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:35000503 8715599 B3gat3 beta-1,3-glucuronyltransferase 3 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1323698 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16759393 8715608 Olig2 oligodendrocyte transcription factor 2 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1316088 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 8715608 Olig2 oligodendrocyte transcription factor 2 gene DOID:0060898 Parkinson's disease 20 ISO RGD:1316088 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 8715608 Olig2 oligodendrocyte transcription factor 2 gene DOID:0060953 ZTTK syndrome ISO RGD:1316088 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 8715608 Olig2 oligodendrocyte transcription factor 2 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1316088 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 8715608 Olig2 oligodendrocyte transcription factor 2 gene DOID:0111995 immunodeficiency 28 ISO RGD:1316088 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Immunodeficiency 28 PMID:17237124|PMID:23512985|PMID:28492532 8715608 Olig2 oligodendrocyte transcription factor 2 gene DOID:1824 status epilepticus ISO RGD:1307098 D RGD:9068941 20201218 RGD mRNA, protein:decreased expression:white matter of cerebral lobe PMID:31415741|REF_RGD_ID:40902837 8715608 Olig2 oligodendrocyte transcription factor 2 gene DOID:630 genetic disease ISO RGD:1316088 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11337472|PMID:27479843 8715608 Olig2 oligodendrocyte transcription factor 2 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:1307098 D RGD:9068941 20201218 RGD PMID:22173726|REF_RGD_ID:40902844 8715608 Olig2 oligodendrocyte transcription factor 2 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:1316089 D RGD:9068941 20201218 RGD PMID:28452182|REF_RGD_ID:40902836 8715608 Olig2 oligodendrocyte transcription factor 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1316088 D RGD:9068941 20201211 RGD associated with breast cancer PMID:27340107|REF_RGD_ID:40902824 8715608 Olig2 oligodendrocyte transcription factor 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:1307098 D RGD:9068941 20201218 RGD PMID:29682587|REF_RGD_ID:40902863 8715608 Olig2 oligodendrocyte transcription factor 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:1316089 D RGD:9068941 20201211 RGD PMID:24941845|REF_RGD_ID:40902822 8715608 Olig2 oligodendrocyte transcription factor 2 gene DOID:9003178 Familial Platelet Disorder with Associated Myeloid Malignancy ISO RGD:1316088 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 PMID:17237124|PMID:23512985|PMID:28492532 8715608 Olig2 oligodendrocyte transcription factor 2 gene DOID:9009105 HIV Encephalitis ISO RGD:1316088 D RGD:9068941 20201211 RGD PMID:15579294|REF_RGD_ID:40902823 8715608 Olig2 oligodendrocyte transcription factor 2 gene DOID:9790 toxocariasis ISO RGD:1316089 D RGD:9068941 20201211 RGD PMID:25773181|REF_RGD_ID:40902825 8715614 Ap3b1 adaptor related protein complex 3 subunit beta 1 gene DOID:0060539 Hermansky-Pudlak syndrome 1 ISO RGD:1321051 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells PMID:25741868|PMID:28492532 8715614 Ap3b1 adaptor related protein complex 3 subunit beta 1 gene DOID:0060540 Hermansky-Pudlak syndrome 2 ISO RGD:1321051 D RGD:7240710 20180130 OMIM 8715614 Ap3b1 adaptor related protein complex 3 subunit beta 1 gene DOID:0060540 Hermansky-Pudlak syndrome 2 ISO RGD:1321051 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 PMID:10024875|PMID:11809908|PMID:14566336|PMID:16199547|PMID:16507770|PMID:16537806|PMID:16551969|PMID:17576681|PMID:23265383|PMID:23403622|PMID:24033266|PMID:25741868|PMID:25980904|PMID:27781387|PMID:28132693|PMID:28492532|PMID:31898847|PMID:32935436|PMID:33217554|PMID:33718801|PMID:34170459|PMID:36941763|PMID:8042664|PMID:9536098 8715614 Ap3b1 adaptor related protein complex 3 subunit beta 1 gene DOID:10283 prostate cancer ISO RGD:1321051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383|PMID:28492532 8715614 Ap3b1 adaptor related protein complex 3 subunit beta 1 gene DOID:1059 intellectual disability ISO RGD:1321051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 8715614 Ap3b1 adaptor related protein complex 3 subunit beta 1 gene DOID:1227 neutropenia ISO RGD:1321051 D RGD:9068941 20200609 RGD PMID:12125811|REF_RGD_ID:1578409 8715614 Ap3b1 adaptor related protein complex 3 subunit beta 1 gene DOID:12800 mucopolysaccharidosis VI ISO RGD:1321051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis type 6 PMID:10036316|PMID:17458871|PMID:18486607|PMID:28492532 8715614 Ap3b1 adaptor related protein complex 3 subunit beta 1 gene DOID:1588 thrombocytopenia ISO RGD:1321051 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:25741868|PMID:28492532|PMID:32935436 8715614 Ap3b1 adaptor related protein complex 3 subunit beta 1 gene DOID:2213 hemorrhagic disease ISO RGD:1321051 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:28492532|PMID:32935436 8715614 Ap3b1 adaptor related protein complex 3 subunit beta 1 gene DOID:2223 platelet storage pool deficiency ISO RGD:1321052 D RGD:9068941 20220825 MouseDO OMIM:185050 8715614 Ap3b1 adaptor related protein complex 3 subunit beta 1 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1321051 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:24033266|PMID:25741868|PMID:28492532|PMID:31898847 8715614 Ap3b1 adaptor related protein complex 3 subunit beta 1 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1321051 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:24033266|PMID:25741868|PMID:28132693|PMID:28492532|PMID:31898847|PMID:33217554 8715614 Ap3b1 adaptor related protein complex 3 subunit beta 1 gene DOID:3082 interstitial lung disease ISO RGD:1321051 D RGD:9068941 20200609 RGD associated with Hermansky-Pudlak Syndrome 2;DNA:snps, missense mutation, nonsense mutations:exons, introns:multiple (human) PMID:22009278|REF_RGD_ID:11096518 8715614 Ap3b1 adaptor related protein complex 3 subunit beta 1 gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:1321051 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome PMID:16507770|PMID:23403622|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31898847 8715614 Ap3b1 adaptor related protein complex 3 subunit beta 1 gene DOID:3770 pulmonary fibrosis ISO RGD:1321051 D RGD:9068941 20200609 RGD PMID:12125811|REF_RGD_ID:1578409 8715614 Ap3b1 adaptor related protein complex 3 subunit beta 1 gene DOID:5339 cyclic hematopoiesis ISO RGD:12137585 D RGD:9068941 20230921 OMIA Neutropenia, cyclic PMID:1013155|PMID:1167851|PMID:1251140|PMID:1259228|PMID:12750178|PMID:127610|PMID:12897784|PMID:1379221|PMID:15059607|PMID:15576359|PMID:16610934|PMID:1699776|PMID:17053055|PMID:173440|PMID:1893969|PMID:18951469|PMID:19208418|PMID:19941936|PMID:2172633|PMID:22285163|PMID:22845776|PMID:2458781|PMID:2830927|PMID:2945680|PMID:2979797|PMID:3026784|PMID:3181344|PMID:336117|PMID:347941|PMID:3491636|PMID:351627|PMID:35904319|PMID:3607647|PMID:37673175|PMID:3996494|PMID:4170467|PMID:438337|PMID:4430726|PMID:4587264|PMID:4591036|PMID:4612548|PMID:4703853|PMID:47249|PMID:4795953|PMID:4796766|PMID:4834515|PMID:5054471|PMID:5054472|PMID:5366324|PMID:5529685|PMID:5534257|PMID:5581910|PMID:568046|PMID:6067150|PMID:6096876|PMID:6506453|PMID:6759148|PMID:6803622|PMID:6837566|PMID:6846503|PMID:6853718|PMID:686147|PMID:6884440|PMID:6972315|PMID:6976196|PMID:7011123|PMID:7059519|PMID:7060078|PMID:7066210|PMID:710550|PMID:719169|PMID:7281477|PMID:7350939|PMID:738429|PMID:738763|PMID:7405719|PMID:7474871|PMID:7519075|PMID:7528575|PMID:8737267|PMID:955040|PMID:995965 8715614 Ap3b1 adaptor related protein complex 3 subunit beta 1 gene DOID:630 genetic disease ISO RGD:1321051 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8715614 Ap3b1 adaptor related protein complex 3 subunit beta 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8715651 Mmp27 matrix metallopeptidase 27 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1315373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:23339108|PMID:24781753|PMID:28492532|PMID:31413057|PMID:32753734 8715651 Mmp27 matrix metallopeptidase 27 gene DOID:1059 intellectual disability ISO RGD:1315373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8715651 Mmp27 matrix metallopeptidase 27 gene DOID:12704 ataxia telangiectasia ISO RGD:1315373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 8715665 Dcp2 decapping mRNA 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1349747 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:11257105|PMID:14672538|PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8715665 Dcp2 decapping mRNA 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349747 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8715665 Dcp2 decapping mRNA 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1349747 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 8715665 Dcp2 decapping mRNA 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1349747 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8715687 Rap1gds1 Rap1 GTPase-GDP dissociation stimulator 1 gene DOID:9003388 ALFADHEL SYNDROME ISO RGD:1318400 D RGD:7240710 20240117 OMIM 8715687 Rap1gds1 Rap1 GTPase-GDP dissociation stimulator 1 gene DOID:9003388 ALFADHEL SYNDROME ISO RGD:1318400 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Alfadhel syndrome PMID:25741868|PMID:32431071|PMID:33875846 8715715 Fbxl3 F-box and leucine rich repeat protein 3 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1343078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 8715715 Fbxl3 F-box and leucine rich repeat protein 3 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1343078 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:10528251|PMID:20127975|PMID:20157158|PMID:22589734|PMID:28492532|PMID:30394532|PMID:31406620|PMID:32393339|PMID:8001159 8715715 Fbxl3 F-box and leucine rich repeat protein 3 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1343078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:18414213|PMID:24767253|PMID:25741868|PMID:28492532 8715715 Fbxl3 F-box and leucine rich repeat protein 3 gene DOID:9005631 INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS ISO RGD:1343078 D RGD:7240710 20190424 OMIM 8715715 Fbxl3 F-box and leucine rich repeat protein 3 gene DOID:9005631 INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS ISO RGD:1343078 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability, short stature, facial anomalies, and joint dislocations PMID:11477608|PMID:25741868|PMID:30481285 8715726 Sdhaf3 succinate dehydrogenase complex assembly factor 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1313002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8715733 Yes1 YES proto-oncogene 1, Src family tyrosine kinase gene DOID:0080600 COVID-19 ISO RGD:1321347 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8715733 Yes1 YES proto-oncogene 1, Src family tyrosine kinase gene DOID:12849 autistic disorder ISO RGD:1321347 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8715733 Yes1 YES proto-oncogene 1, Src family tyrosine kinase gene DOID:1657 ventricular septal defect ISO RGD:1321347 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24478334 8715733 Yes1 YES proto-oncogene 1, Src family tyrosine kinase gene DOID:6406 double outlet right ventricle ISO RGD:1321347 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24478334 8715733 Yes1 YES proto-oncogene 1, Src family tyrosine kinase gene DOID:9003191 Vascular Malformations ISO RGD:1321347 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24478334 8715733 Yes1 YES proto-oncogene 1, Src family tyrosine kinase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321347 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8715733 Yes1 YES proto-oncogene 1, Src family tyrosine kinase gene DOID:9007023 Prenatal Injuries ISO RGD:1321347 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24478334 8715733 Yes1 YES proto-oncogene 1, Src family tyrosine kinase gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1550106 D RGD:9068941 20230429 RGD mRNA,protein:increased expression:myocardium (mouse) PMID:30259997|REF_RGD_ID:329337366 8715752 Rspo2 R-spondin 2 gene DOID:0112193 tetraamelia syndrome 2 ISO RGD:1603855 D RGD:7240710 20190605 OMIM 8715752 Rspo2 R-spondin 2 gene DOID:0112193 tetraamelia syndrome 2 ISO RGD:1603855 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Tetraamelia syndrome 2 PMID:25741868|PMID:28492532|PMID:29769720 8715752 Rspo2 R-spondin 2 gene DOID:9002753 Humerofemoral Hypoplasia with Radiotibial Ray Deficiency ISO RGD:1603855 D RGD:7240710 20190717 OMIM 8715752 Rspo2 R-spondin 2 gene DOID:9002753 Humerofemoral Hypoplasia with Radiotibial Ray Deficiency ISO RGD:1603855 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Humerofemoral hypoplasia with radiotibial ray deficiency | ClinVar Annotator: match by term: RSPO2-related condition PMID:25741868|PMID:28492532|PMID:29769720 8715762 Higd1a HIG1 hypoxia inducible domain family member 1A gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:1603666 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532 8715785 Sap30 Sin3A associated protein 30 gene DOID:0080600 COVID-19 ISO RGD:1354225 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8715785 Sap30 Sin3A associated protein 30 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8715794 Slc10a1 solute carrier family 10 member 1 gene DOID:12351 alcoholic hepatitis treatment ISO RGD:3681 D RGD:9068941 20200609 RGD PMID:27939985|REF_RGD_ID:15036816 8715794 Slc10a1 solute carrier family 10 member 1 gene DOID:13580 cholestasis treatment ISO RGD:3681 D RGD:9068941 20200609 RGD PMID:29655695|REF_RGD_ID:15090803 8715794 Slc10a1 solute carrier family 10 member 1 gene DOID:13580 cholestasis treatment ISO RGD:3681 D RGD:9068941 20200609 RGD mRNA:altered expression:liver (rat) PMID:27090119|REF_RGD_ID:15090804 8715794 Slc10a1 solute carrier family 10 member 1 gene DOID:2043 hepatitis B ISO RGD:737174 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Hepatitis B virus, resistance to PMID:14660639|PMID:25418280|PMID:25741868|PMID:27882152|PMID:28835676|PMID:29290974|PMID:29658451|PMID:38749427 8715794 Slc10a1 solute carrier family 10 member 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 8715794 Slc10a1 solute carrier family 10 member 1 gene DOID:9003473 Familial Hypercholanemia 2 ISO RGD:737174 D RGD:7240710 20210414 OMIM 8715794 Slc10a1 solute carrier family 10 member 1 gene DOID:9003473 Familial Hypercholanemia 2 ISO RGD:737174 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Hypercholanemia, familial, 2 | ClinVar Annotator: match by term: NTCP deficiency | ClinVar Annotator: match by term: SLC10A1-related condition PMID:14660639|PMID:24867799|PMID:25418280|PMID:25741868|PMID:27882152|PMID:28835676|PMID:29290974|PMID:29658451|PMID:32101444|PMID:38749427 8715794 Slc10a1 solute carrier family 10 member 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:3681 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:28827769|REF_RGD_ID:15045609 8715794 Slc10a1 solute carrier family 10 member 1 gene DOID:9970 obesity disease_progression ISO RGD:3681 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:25612518|REF_RGD_ID:15045599 8715803 Ccrl2 C-C motif chemokine receptor like 2 gene DOID:0080600 COVID-19 ISO RGD:1323460 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 8715803 Ccrl2 C-C motif chemokine receptor like 2 gene DOID:37 skin disease ISO RGD:1323460 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 8715803 Ccrl2 C-C motif chemokine receptor like 2 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1323460 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 8715803 Ccrl2 C-C motif chemokine receptor like 2 gene DOID:9007964 Arsenic Poisoning ISO RGD:1323460 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 8715843 F2rl3 F2R like thrombin or trypsin receptor 3 gene DOID:13580 cholestasis ISO RGD:1351365 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20974703 8715843 F2rl3 F2R like thrombin or trypsin receptor 3 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1351365 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20974703 8715843 F2rl3 F2R like thrombin or trypsin receptor 3 gene DOID:914 peliosis hepatis ISO RGD:1351365 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20974703 8715851 Stk26 serine/threonine kinase 26 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1604356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8715851 Stk26 serine/threonine kinase 26 gene DOID:0111823 autosomal hemophilia A ISO RGD:1604356 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A PMID:31690835 8715851 Stk26 serine/threonine kinase 26 gene DOID:12134 factor VIII deficiency ISO RGD:1604356 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Factor 8 deficiency, congenital PMID:31690835 8715851 Stk26 serine/threonine kinase 26 gene DOID:12849 autistic disorder ISO RGD:1604356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8715867 Znf644 zinc finger protein 644 gene DOID:3021 acute kidney failure ISO RGD:1604575 D RGD:9068941 20230706 CTD CTD Direct Evidence: marker/mechanism PMID:36052886 8715867 Znf644 zinc finger protein 644 gene DOID:9003525 Myopia 21, Autosomal Dominant ISO RGD:1604575 D RGD:7240710 20180130 OMIM 8715867 Znf644 zinc finger protein 644 gene DOID:9003525 Myopia 21, Autosomal Dominant ISO RGD:1604575 D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: Myopia 21, autosomal dominant | ClinVar Annotator: match by term: ZNF644-related condition PMID:21695231|PMID:25741868|PMID:28492532 8715918 Frrs1 ferric chelate reductase 1 gene DOID:0080600 COVID-19 ISO RGD:1604148 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8715939 St8sia5 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 gene DOID:0060356 Vici syndrome ISO RGD:1349184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vici syndrome PMID:28492532 8715939 St8sia5 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1349184 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:31690835 8715939 St8sia5 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 gene DOID:1059 intellectual disability ISO RGD:1349184 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8715939 St8sia5 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 gene DOID:9002791 Microcephaly, Epilepsy, and Diabetes Syndrome ISO RGD:1349184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome PMID:28492532 8715958 Tmub1 transmembrane and ubiquitin like domain containing 1 gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:1349176 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:28492532 8715958 Tmub1 transmembrane and ubiquitin like domain containing 1 gene DOID:2843 long QT syndrome ISO RGD:1349176 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16470702|PMID:18348270|PMID:19443486|PMID:19862833|PMID:25606385|PMID:28492532 8715958 Tmub1 transmembrane and ubiquitin like domain containing 1 gene DOID:2843 long QT syndrome ISO RGD:1349176 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16470702|PMID:18348270|PMID:19443486|PMID:19862833|PMID:21185499|PMID:25606385|PMID:28492532 8715985 LOC102004351 NADH-cytochrome b5 reductase 1 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1314495 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 8715985 LOC102004351 NADH-cytochrome b5 reductase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1314495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8715985 LOC102004351 NADH-cytochrome b5 reductase 1 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1314495 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8715985 LOC102004351 NADH-cytochrome b5 reductase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1314495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8715999 Foxred1 FAD dependent oxidoreductase domain containing 1 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1604612 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:20818383|PMID:20858599|PMID:22200994|PMID:23757202|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29142257|PMID:30723688|PMID:30956948|PMID:31065540|PMID:31589614|PMID:33613441 8715999 Foxred1 FAD dependent oxidoreductase domain containing 1 gene DOID:0070614 chromosome 11 partial duplication syndrome ISO RGD:1604612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8715999 Foxred1 FAD dependent oxidoreductase domain containing 1 gene DOID:0110275 autosomal recessive limb-girdle muscular dystrophy type 2A ISO RGD:1604612 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2A PMID:25326637|PMID:25741868|PMID:28492532 8715999 Foxred1 FAD dependent oxidoreductase domain containing 1 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1604612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 8715999 Foxred1 FAD dependent oxidoreductase domain containing 1 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1604612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 8715999 Foxred1 FAD dependent oxidoreductase domain containing 1 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1604612 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:16199547|PMID:20818383|PMID:20858599|PMID:22200994|PMID:23757202|PMID:24033266|PMID:25741868|PMID:25803036|PMID:28492532|PMID:29142257|PMID:30723688|PMID:30956948|PMID:31065540|PMID:31589614|PMID:33613441|PMID:36307859 8715999 Foxred1 FAD dependent oxidoreductase domain containing 1 gene DOID:0112085 nuclear type mitochondrial complex I deficiency 19 ISO RGD:1604612 D RGD:7240710 20190315 OMIM 8715999 Foxred1 FAD dependent oxidoreductase domain containing 1 gene DOID:0112085 nuclear type mitochondrial complex I deficiency 19 ISO RGD:1604612 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: FOXRED1-related condition | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 PMID:16199547|PMID:20818383|PMID:20858599|PMID:22200994|PMID:23757202|PMID:24033266|PMID:25678554|PMID:25741868|PMID:27215383|PMID:28097321|PMID:28492532|PMID:29142257|PMID:30723688|PMID:30956948|PMID:31065540|PMID:31434271|PMID:31589614|PMID:32573669|PMID:32964447|PMID:33613441|PMID:33726816|PMID:35628876 8715999 Foxred1 FAD dependent oxidoreductase domain containing 1 gene DOID:1826 epilepsy ISO RGD:1604612 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 8715999 Foxred1 FAD dependent oxidoreductase domain containing 1 gene DOID:3652 Leigh disease ISO RGD:1604612 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:20818383|PMID:20858599|PMID:22200994|PMID:23757202|PMID:24033266|PMID:25678554|PMID:25741868|PMID:25803036|PMID:28492532|PMID:29142257|PMID:30723688|PMID:30956948|PMID:31065540|PMID:31589614|PMID:33613441 8715999 Foxred1 FAD dependent oxidoreductase domain containing 1 gene DOID:5419 schizophrenia ISO RGD:1604612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8715999 Foxred1 FAD dependent oxidoreductase domain containing 1 gene DOID:630 genetic disease ISO RGD:1604612 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20818383|PMID:20858599|PMID:22200994|PMID:23757202|PMID:24033266|PMID:25678554|PMID:25741868|PMID:28097321|PMID:28492532|PMID:29142257|PMID:30723688|PMID:30956948|PMID:31065540|PMID:31589614|PMID:32964447|PMID:33613441|PMID:33726816 8715999 Foxred1 FAD dependent oxidoreductase domain containing 1 gene DOID:700 mitochondrial metabolism disease ISO RGD:1604612 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20818383 8715999 Foxred1 FAD dependent oxidoreductase domain containing 1 gene DOID:890 mitochondrial encephalomyopathy ISO RGD:1604612 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20858599 8715999 Foxred1 FAD dependent oxidoreductase domain containing 1 gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1604612 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:20818383|PMID:20858599|PMID:22200994|PMID:23757202|PMID:24033266|PMID:25678554|PMID:25741868|PMID:28492532|PMID:29142257|PMID:30723688|PMID:30956948|PMID:31065540|PMID:31589614|PMID:33613441 8715999 Foxred1 FAD dependent oxidoreductase domain containing 1 gene DOID:9007385 Mitochondrial Encephalopathy ISO RGD:1604612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial encephalopathy PMID:25741868 8715999 Foxred1 FAD dependent oxidoreductase domain containing 1 gene DOID:9007661 Dwarfism ISO RGD:1604612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8715999 Foxred1 FAD dependent oxidoreductase domain containing 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1604612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay PMID:25741868|PMID:28492532 8716014 Cabp7 calcium binding protein 7 gene DOID:0111252 vestibular schwannomatosis ISO RGD:1348796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:28492532|PMID:9643284|PMID:9817927 8716014 Cabp7 calcium binding protein 7 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1348796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:21876083|PMID:24713400|PMID:28492532 8716021 Ttll4 tubulin tyrosine ligase like 4 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1315312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 8716021 Ttll4 tubulin tyrosine ligase like 4 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1315312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 8716021 Ttll4 tubulin tyrosine ligase like 4 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1315312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 8716021 Ttll4 tubulin tyrosine ligase like 4 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1315312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 8716021 Ttll4 tubulin tyrosine ligase like 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8716046 Npc1 NPC intracellular cholesterol transporter 1 gene DOID:0050753 cerebellar ataxia ISO RGD:1318462 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:10521290|PMID:11333381|PMID:11349231|PMID:11479732|PMID:11754101|PMID:12401890|PMID:12955717|PMID:14639697|PMID:15937921|PMID:16098014|PMID:20301473|PMID:20554533|PMID:23183285|PMID:23427322|PMID:23773996|PMID:23791518|PMID:25236789|PMID:25349751|PMID:25425405|PMID:25741868|PMID:26666848|PMID:26981555|PMID:28492532|PMID:32138288|PMID:32248828|PMID:39825153 8716046 Npc1 NPC intracellular cholesterol transporter 1 gene DOID:0070111 Niemann-Pick disease type A ISO RGD:1318462 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis PMID:10480349|PMID:10521290|PMID:10521297|PMID:11349231|PMID:11754101|PMID:12401890|PMID:12955717|PMID:14639697|PMID:16098014|PMID:16126423|PMID:18216017|PMID:19744920|PMID:20301473|PMID:20521171|PMID:21436030|PMID:22505584|PMID:23430855|PMID:24928400|PMID:25149939|PMID:25236789|PMID:25590979|PMID:25637190|PMID:25741868|PMID:25873482|PMID:26019327|PMID:26666848|PMID:27139891|PMID:27923633|PMID:28413817|PMID:28492532|PMID:28710748|PMID:28776642|PMID:28865947|PMID:29476731|PMID:29631617|PMID:30487145|PMID:30556376|PMID:30665703|PMID:31589614|PMID:31639011|PMID:31980526|PMID:32138288|PMID:33027564|PMID:33099109|PMID:35140266|PMID:36007526 8716046 Npc1 NPC intracellular cholesterol transporter 1 gene DOID:0070112 Niemann-Pick disease type B ISO RGD:1318462 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis PMID:10480349|PMID:10521290|PMID:10521297|PMID:11349231|PMID:11754101|PMID:12401890|PMID:12955717|PMID:14639697|PMID:16098014|PMID:16126423|PMID:18216017|PMID:19744920|PMID:20301473|PMID:20521171|PMID:21436030|PMID:22505584|PMID:23430855|PMID:24928400|PMID:25149939|PMID:25236789|PMID:25590979|PMID:25637190|PMID:25741868|PMID:25873482|PMID:26019327|PMID:26666848|PMID:27139891|PMID:27923633|PMID:28413817|PMID:28492532|PMID:28710748|PMID:28776642|PMID:28865947|PMID:29476731|PMID:29631617|PMID:30487145|PMID:30556376|PMID:30665703|PMID:31589614|PMID:31639011|PMID:31980526|PMID:32138288|PMID:33027564|PMID:33099109|PMID:35140266|PMID:36007526 8716046 Npc1 NPC intracellular cholesterol transporter 1 gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:1318462 D RGD:7240710 20180130 OMIM 8716046 Npc1 NPC intracellular cholesterol transporter 1 gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:1318462 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: NPC1-related condition | ClinVar Annotator: match by term: Niemann-Pick disease, subacute juvenile form | ClinVar Annotator: match by term: Niemann-Pick disease, type C | ClinVar Annotator: match by term: Niemann-Pick disease, type C1 | ClinVar Annotator: match by term: Niemann-Pick disease, type C1, adult form | ClinVar Annotator: match by term: Niemann-Pick disease, type C1, juvenile form PMID:10419504|PMID:10480349|PMID:10521290|PMID:10521297|PMID:11182931|PMID:11333381|PMID:11349231|PMID:11479732|PMID:11545687|PMID:11754101|PMID:12205649|PMID:12401890|PMID:12408188|PMID:12554680|PMID:12719428|PMID:12813037|PMID:12955717|PMID:12974729|PMID:14639697|PMID:14970192|PMID:15130691|PMID:15347664|PMID:15459971|PMID:15465421|PMID:15596783|PMID:15774455|PMID:15937921|PMID:16086131|PMID:16098014|PMID:16126423|PMID:16138904|PMID:16143556|PMID:16199547|PMID:16720792|PMID:16778374|PMID:16802107|PMID:17003072|PMID:17160617|PMID:17576681|PMID:17973331|PMID:17989072|PMID:18081003|PMID:18216017|PMID:19013089|PMID:19206179|PMID:19223215|PMID:19252935|PMID:19307542|PMID:19563754|PMID:19609713|PMID:19718781|PMID:19744920|PMID:19900398|PMID:20301473|PMID:20489167|PMID:20521171|PMID:20554533|PMID:20718790|PMID:20826119|PMID:20882348|PMID:20981092|PMID:21245028|PMID:21436030|PMID:21550990|PMID:22065762|PMID:22269206|PMID:22326530|PMID:22476655|PMID:22505584|PMID:22676771|PMID:22704015|PMID:22750297|PMID:22995991|PMID:23142039|PMID:23146215|PMID:23183285|PMID:23427322|PMID:23430855|PMID:23433426|PMID:23453666|PMID:23487299|PMID:23593294|PMID:23597521|PMID:23653225|PMID:23685560|PMID:23711246|PMID:23757202|PMID:23773996|PMID:23774949|PMID:23791518|PMID:23821321|PMID:24001525|PMID:24033266|PMID:24035292|PMID:24178705|PMID:24386122|PMID:24506780|PMID:24570279|PMID:24676439|PMID:24767253|PMID:24891511|PMID:24915861|PMID:24928400|PMID:25071864|PMID:25131710|PMID:25149939|PMID:25236789|PMID:25238906|PMID:25239094|PMID:25326635|PMID:25326637|PMID:25349751|PMID:25425405|PMID:25497598|PMID:25590979|PMID:25637190|PMID:25741868|PMID:25764212|PMID:25873482|PMID:25888393|PMID:25989649|PMID:26019327|PMID:26108224|PMID:26206375|PMID:26255038|PMID:26284228|PMID:26338816|PMID:26467025|PMID:26666848|PMID:26771826|PMID:26788393|PMID:26790753|PMID:26830282|PMID:26910362|PMID:26937389|PMID:26939636|PMID:26981555|PMID:26984608|PMID:27016452|PMID:27139891|PMID:27193329|PMID:27234403|PMID:27238017|PMID:27250337|PMID:27256227|PMID:27288778|PMID:27366019|PMID:27378690|PMID:27528516|PMID:27549128|PMID:27550898|PMID:27581084|PMID:27599728|PMID:27706244|PMID:27792009|PMID:27900365|PMID:27923633|PMID:27928380|PMID:27959697|PMID:28105569|PMID:28130309|PMID:28155026|PMID:28167839|PMID:28193631|PMID:28222799|PMID:28328115|PMID:28387450|PMID:28413817|PMID:28472934|PMID:28480683|PMID:28492532|PMID:28666962|PMID:28703315|PMID:28710748|PMID:28776642|PMID:28784760|PMID:28802248|PMID:28808920|PMID:28865947|PMID:28883878|PMID:29100954|PMID:29165669|PMID:29197565|PMID:29429782|PMID:29453517|PMID:29476731|PMID:29631617|PMID:29971198|PMID:30019023|PMID:30119649|PMID:30153451|PMID:30202070|PMID:30285904|PMID:30487145|PMID:30552426|PMID:30556376|PMID:30609409|PMID:30633340|PMID:30665703|PMID:30737051|PMID:30820861|PMID:30923329|PMID:30985853|PMID:31130284|PMID:31139477|PMID:31296176|PMID:31497485|PMID:31543266|PMID:31589614|PMID:31635081|PMID:31639011|PMID:3165081|PMID:31699992|PMID:31743419|PMID:31754021|PMID:31980526|PMID:32060698|PMID:32138288|PMID:32144825|PMID:32222928|PMID:32248828|PMID:32289814|PMID:32317543|PMID:32482919|PMID:32488064|PMID:32544384|PMID:32709131|PMID:32732226|PMID:32745579|PMID:32860008|PMID:32921771|PMID:32931663|PMID:33021976|PMID:33027564|PMID:33099109|PMID:33138774|PMID:33139814|PMID:33163944|PMID:33258288|PMID:33624863|PMID:3378364|PMID:33947371|PMID:33990640|PMID:34023347|PMID:34296265|PMID:34303826|PMID:34489640|PMID:34712575|PMID:35038048|PMID:35086560|PMID:35861376|PMID:35892469|PMID:36007526|PMID:36325261|PMID:37032242|PMID:4795418|PMID:5465421|PMID:9211849|PMID:9211850|PMID:9245994|PMID:9536098|PMID:9634529|PMID:9744920|PMID:9927649 8716046 Npc1 NPC intracellular cholesterol transporter 1 gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:1318462 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: NPC1-related condition | ClinVar Annotator: match by term: Niemann-Pick disease, type C | ClinVar Annotator: match by term: Niemann-Pick disease, type C1 | ClinVar Annotator: match by term: Niemann-Pick disease, type C1, adult form | ClinVar Annotator: match by term: Niemann-Pick disease, type C1, juvenile form PMID:10419504|PMID:10480349|PMID:10521290|PMID:10521297|PMID:11182931|PMID:11333381|PMID:11349231|PMID:11479732|PMID:11545687|PMID:11754101|PMID:12205649|PMID:12401890|PMID:12408188|PMID:12554680|PMID:12719428|PMID:12813037|PMID:12955717|PMID:12974729|PMID:14639697|PMID:14970192|PMID:15099022|PMID:15130691|PMID:15347664|PMID:15459971|PMID:15465421|PMID:15596783|PMID:15774455|PMID:15937921|PMID:16086131|PMID:16098014|PMID:16126423|PMID:16138904|PMID:16143556|PMID:16199547|PMID:16720792|PMID:16778374|PMID:16802107|PMID:17003072|PMID:17160617|PMID:17576681|PMID:17973331|PMID:17989072|PMID:18081003|PMID:18216017|PMID:19013089|PMID:19206179|PMID:19223215|PMID:19252935|PMID:19307542|PMID:19563754|PMID:19609713|PMID:19718781|PMID:19744920|PMID:19763152|PMID:19900398|PMID:20301473|PMID:20307669|PMID:20489167|PMID:20521171|PMID:20554533|PMID:20718790|PMID:20826119|PMID:20882348|PMID:20981092|PMID:21245028|PMID:21436030|PMID:21550990|PMID:22065762|PMID:22269206|PMID:22326530|PMID:22406018|PMID:22476655|PMID:22505584|PMID:22676771|PMID:22704015|PMID:22750297|PMID:22995991|PMID:23112236|PMID:23142039|PMID:23146215|PMID:23183285|PMID:23427322|PMID:23430855|PMID:23433426|PMID:23453666|PMID:23487299|PMID:23593294|PMID:23597521|PMID:23653225|PMID:23685560|PMID:23711246|PMID:23757202|PMID:23773996|PMID:23774949|PMID:23791518|PMID:23821321|PMID:24001525|PMID:24033266|PMID:24035292|PMID:24178705|PMID:24386122|PMID:24506780|PMID:24570279|PMID:24676439|PMID:24767253|PMID:24891511|PMID:24915861|PMID:24928400|PMID:25071864|PMID:25131710|PMID:25149939|PMID:25236789|PMID:25238906|PMID:25239094|PMID:25326635|PMID:25326637|PMID:25349751|PMID:25425405|PMID:25497598|PMID:25536905|PMID:25590979|PMID:25637190|PMID:25640679|PMID:25741868|PMID:25748406|PMID:25764212|PMID:25873482|PMID:25888393|PMID:25989649|PMID:26019327|PMID:26075876|PMID:26108224|PMID:26206375|PMID:26255038|PMID:26284228|PMID:26338816|PMID:26467025|PMID:26666848|PMID:26771826|PMID:26788393|PMID:26790753|PMID:26830282|PMID:26910362|PMID:26937389|PMID:26939636|PMID:26981555|PMID:26984608|PMID:27016452|PMID:27139891|PMID:27193329|PMID:27234403|PMID:27238017|PMID:27250337|PMID:27256227|PMID:27288778|PMID:27366019|PMID:27378690|PMID:27528516|PMID:27549128|PMID:27550898|PMID:27581084|PMID:27599728|PMID:27706244|PMID:27792009|PMID:27900365|PMID:27923633|PMID:27928380|PMID:27959697|PMID:28105569|PMID:28130309|PMID:28155026|PMID:28167839|PMID:28193631|PMID:28222799|PMID:28328115|PMID:28387450|PMID:28413817|PMID:28472934|PMID:28480683|PMID:28492532|PMID:28666962|PMID:28703315|PMID:28710748|PMID:28776642|PMID:28784760|PMID:28802248|PMID:28808920|PMID:28865947|PMID:28883878|PMID:29100954|PMID:29165669|PMID:29197565|PMID:29429782|PMID:29453517|PMID:29476731|PMID:29631617|PMID:29971198|PMID:30019023|PMID:30119649|PMID:30153451|PMID:30202070|PMID:30285904|PMID:30487145|PMID:30552426|PMID:30556376|PMID:30609409|PMID:30633340|PMID:30665703|PMID:30737051|PMID:30820861|PMID:30923329|PMID:30985853|PMID:31030438|PMID:31130284|PMID:31139477|PMID:31296176|PMID:31497485|PMID:31509197|PMID:31543266|PMID:31589614|PMID:31635081|PMID:31639011|PMID:3165081|PMID:31699992|PMID:31743419|PMID:31754021|PMID:31980526|PMID:32060698|PMID:32138288|PMID:32144825|PMID:32222928|PMID:32248828|PMID:32289814|PMID:32317543|PMID:32482919|PMID:32488064|PMID:32544384|PMID:32709131|PMID:32732226|PMID:32745579|PMID:32860008|PMID:32921771|PMID:32931663|PMID:33021976|PMID:33027564|PMID:33099109|PMID:33138774|PMID:33139814|PMID:33163944|PMID:33258288|PMID:33624863|PMID:3378364|PMID:33947371|PMID:33990640|PMID:34023347|PMID:34234304|PMID:34296265|PMID:34303826|PMID:34489640|PMID:34712575|PMID:34799641|PMID:35038048|PMID:35086560|PMID:35140266|PMID:35192242|PMID:35408815|PMID:35614200|PMID:35861376|PMID:35892469|PMID:35982159|PMID:36007526|PMID:36307859|PMID:36325261|PMID:36636588|PMID:36703223|PMID:37032242|PMID:37251532|PMID:37480097|PMID:38131230|PMID:39825153|PMID:4795418|PMID:5465421|PMID:9211849|PMID:9211850|PMID:9245994|PMID:9536098 8716046 Npc1 NPC intracellular cholesterol transporter 1 gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:1318462 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: NPC1-related condition | ClinVar Annotator: match by term: Niemann-Pick disease, type C | ClinVar Annotator: match by term: Niemann-Pick disease, type C1 | ClinVar Annotator: match by term: Niemann-Pick disease, type C1, adult form | ClinVar Annotator: match by term: Niemann-Pick disease, type C1, juvenile form PMID:9634529|PMID:9744920|PMID:9927649 8716046 Npc1 NPC intracellular cholesterol transporter 1 gene DOID:0070114 Niemann-Pick disease type C2 ISO RGD:1318462 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C2 PMID:25741868 8716046 Npc1 NPC intracellular cholesterol transporter 1 gene DOID:1059 intellectual disability ISO RGD:1318462 D RGD:8554872 20250114 ClinVar ClinVar Annotator: match by term: Intellectual disability 8716046 Npc1 NPC intracellular cholesterol transporter 1 gene DOID:11077 brucellosis ISO RGD:1318462 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12183525 8716046 Npc1 NPC intracellular cholesterol transporter 1 gene DOID:14504 Niemann-Pick disease ISO RGD:1318462 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease PMID:10480349|PMID:10521290|PMID:10521297|PMID:11349231|PMID:11754101|PMID:12401890|PMID:14639697|PMID:16098014|PMID:16126423|PMID:18216017|PMID:19744920|PMID:20301473|PMID:20521171|PMID:21436030|PMID:22505584|PMID:23430855|PMID:24928400|PMID:25149939|PMID:25590979|PMID:25637190|PMID:25741868|PMID:25873482|PMID:26019327|PMID:26666848|PMID:27923633|PMID:28413817|PMID:28492532|PMID:28710748|PMID:28776642|PMID:28865947|PMID:29476731|PMID:29631617|PMID:30487145|PMID:30556376|PMID:30665703|PMID:31589614|PMID:31639011|PMID:31980526|PMID:32138288|PMID:33099109|PMID:35140266 8716046 Npc1 NPC intracellular cholesterol transporter 1 gene DOID:1826 epilepsy ISO RGD:1318462 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizures PMID:28492532 8716046 Npc1 NPC intracellular cholesterol transporter 1 gene DOID:1936 atherosclerosis ISO RGD:1318462 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18483620 8716046 Npc1 NPC intracellular cholesterol transporter 1 gene DOID:2725 capillary hemangioma ISO RGD:1318462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Capillary hemangioma PMID:25741868 8716046 Npc1 NPC intracellular cholesterol transporter 1 gene DOID:409 liver disease ISO RGD:1318462 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24901380 8716046 Npc1 NPC intracellular cholesterol transporter 1 gene DOID:5082 liver cirrhosis ISO RGD:1318462 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22216111 8716046 Npc1 NPC intracellular cholesterol transporter 1 gene DOID:539 ophthalmoplegia ISO RGD:1318462 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21273508 8716046 Npc1 NPC intracellular cholesterol transporter 1 gene DOID:543 dystonia ISO RGD:1318462 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25741868|PMID:26981555|PMID:28492532 8716046 Npc1 NPC intracellular cholesterol transporter 1 gene DOID:630 genetic disease ISO RGD:1318462 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10480349|PMID:10521290|PMID:10521297|PMID:11333381|PMID:11349231|PMID:11479732|PMID:11754101|PMID:12401890|PMID:12408188|PMID:12955717|PMID:14639697|PMID:15465421|PMID:15937921|PMID:16098014|PMID:16126423|PMID:17044092|PMID:17160617|PMID:17576681|PMID:17989072|PMID:18216017|PMID:19252935|PMID:19563754|PMID:19744920|PMID:20301473|PMID:20521171|PMID:20554533|PMID:20718790|PMID:20826119|PMID:21245028|PMID:21436030|PMID:22326530|PMID:22505584|PMID:23183285|PMID:23427322|PMID:23430855|PMID:23433426|PMID:23773996|PMID:23791518|PMID:24033266|PMID:24386122|PMID:24928400|PMID:25131710|PMID:25149939|PMID:25236789|PMID:25349751|PMID:25425405|PMID:25590979|PMID:25637190|PMID:25741868|PMID:25764212|PMID:25873482|PMID:26019327|PMID:26255038|PMID:26666848|PMID:26790753|PMID:26939636|PMID:26981555|PMID:27193329|PMID:27238017|PMID:27250337|PMID:27581084|PMID:27792009|PMID:27923633|PMID:27928380|PMID:28105569|PMID:28130309|PMID:28193631|PMID:28222799|PMID:28413817|PMID:28492532|PMID:28710748|PMID:28776642|PMID:28784760|PMID:28865947|PMID:29476731|PMID:29631617|PMID:30019023|PMID:30153451|PMID:30285904|PMID:30487145|PMID:30552426|PMID:30556376|PMID:30609409|PMID:30665703|PMID:30820861|PMID:31130284|PMID:31589614|PMID:31639011|PMID:31980526|PMID:32138288|PMID:32222928|PMID:32248828|PMID:32709131|PMID:32745579|PMID:32860008|PMID:33099109|PMID:33138774|PMID:33727856|PMID:33990640|PMID:35140266|PMID:35614200|PMID:35861376|PMID:35982159|PMID:37032242|PMID:39825153|PMID:9211849|PMID:9211850|PMID:9536098 8716046 Npc1 NPC intracellular cholesterol transporter 1 gene DOID:9000053 Headache ISO RGD:1318462 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Headache PMID:10521290|PMID:11333381|PMID:11349231|PMID:11479732|PMID:11754101|PMID:12401890|PMID:12955717|PMID:14639697|PMID:15937921|PMID:16098014|PMID:20301473|PMID:20554533|PMID:23183285|PMID:23427322|PMID:23773996|PMID:23791518|PMID:25236789|PMID:25349751|PMID:25425405|PMID:25741868|PMID:26666848|PMID:26981555|PMID:28492532|PMID:32138288|PMID:32248828|PMID:39825153 8716046 Npc1 NPC intracellular cholesterol transporter 1 gene DOID:9001722 Dysarthria ISO RGD:1318462 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21273508 8716046 Npc1 NPC intracellular cholesterol transporter 1 gene DOID:9002695 Cataplexy ISO RGD:1318462 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Cataplexy PMID:10521290|PMID:11333381|PMID:11349231|PMID:11479732|PMID:11754101|PMID:12401890|PMID:12955717|PMID:14639697|PMID:15937921|PMID:16086131|PMID:16098014|PMID:20301473|PMID:20554533|PMID:23183285|PMID:23427322|PMID:23773996|PMID:23791518|PMID:25236789|PMID:25349751|PMID:25425405|PMID:25741868|PMID:26666848|PMID:26981555|PMID:28492532|PMID:32138288|PMID:32248828|PMID:39825153 8716046 Npc1 NPC intracellular cholesterol transporter 1 gene DOID:9002775 Cognitive Dysfunction ISO RGD:1318462 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Cognitive impairment PMID:10521290|PMID:11333381|PMID:11349231|PMID:11479732|PMID:11754101|PMID:12401890|PMID:12955717|PMID:14639697|PMID:15937921|PMID:16098014|PMID:20301473|PMID:20554533|PMID:23183285|PMID:23427322|PMID:23773996|PMID:23791518|PMID:25236789|PMID:25349751|PMID:25425405|PMID:25741868|PMID:26666848|PMID:26981555|PMID:28492532|PMID:32138288|PMID:32248828|PMID:39825153 8716046 Npc1 NPC intracellular cholesterol transporter 1 gene DOID:9003739 Niemann-Pick Disease Type D ISO RGD:1318462 D RGD:7240710 20240214 OMIM 8716046 Npc1 NPC intracellular cholesterol transporter 1 gene DOID:9003739 Niemann-Pick Disease Type D ISO RGD:1318462 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type D PMID:11333381|PMID:11545687|PMID:12401890|PMID:16126423|PMID:16778374|PMID:20301473|PMID:20718790|PMID:25741868|PMID:26666848|PMID:26984608|PMID:28222799|PMID:28492532|PMID:9245994|PMID:9634529 8716046 Npc1 NPC intracellular cholesterol transporter 1 gene DOID:9004866 Ataxia ISO RGD:1318462 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21273508 8716046 Npc1 NPC intracellular cholesterol transporter 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318462 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 8716046 Npc1 NPC intracellular cholesterol transporter 1 gene DOID:9261 nasopharynx carcinoma ISO RGD:1318462 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Nasopharyngeal carcinoma PMID:10480349|PMID:11182931|PMID:11333381|PMID:11349231|PMID:12408188|PMID:12554680|PMID:12813037|PMID:12955717|PMID:12974729|PMID:20301473|PMID:20489167|PMID:20981092|PMID:21550990|PMID:22995991|PMID:23433426|PMID:25741868|PMID:28492532 8716046 Npc1 NPC intracellular cholesterol transporter 1 gene DOID:9970 obesity ISO RGD:1318462 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19151714 8716075 B3galnt1 beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group) gene DOID:9005651 NOR POLYAGGLUTINATION SYNDROME ISO RGD:1312449 D RGD:7240710 20241113 OMIM 8716099 L3hypdh trans-L-3-hydroxyproline dehydratase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1313918 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8716119 Trim44 tripartite motif containing 44 gene DOID:1059 intellectual disability ISO RGD:1312571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8716119 Trim44 tripartite motif containing 44 gene DOID:12271 aniridia ISO RGD:1312571 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8716119 Trim44 tripartite motif containing 44 gene DOID:9001549 Aniridia 3 ISO RGD:1312571 D RGD:7240710 20190315 OMIM 8716119 Trim44 tripartite motif containing 44 gene DOID:9001549 Aniridia 3 ISO RGD:1312571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aniridia 3 PMID:25741868|PMID:26394807 8716119 Trim44 tripartite motif containing 44 gene DOID:9003936 Cardiomegaly ISO RGD:1304877 D RGD:9068941 20230727 RGD mRNA,protein:increased expression:heart PMID:35855640|REF_RGD_ID:329961579 8716119 Trim44 tripartite motif containing 44 gene DOID:9003936 Cardiomegaly ISO RGD:1312571 D RGD:9068941 20230727 RGD mRNA:increased expression:heart PMID:35855640|REF_RGD_ID:329961579 8716119 Trim44 tripartite motif containing 44 gene DOID:9003936 Cardiomegaly ameliorates ISO RGD:1304877 D RGD:9068941 20230727 RGD PMID:35855640|REF_RGD_ID:329961579 8716142 Nkx2-8 NK2 homeobox 8 gene DOID:0080016 spina bifida ISO RGD:12245875 D RGD:9068941 20230615 OMIA Spinal dysraphism PMID:1641930|PMID:22843830|PMID:23874236|PMID:26725976|PMID:375559|PMID:4434313|PMID:4732250|PMID:5023160|PMID:5318050|PMID:5339905|PMID:5893238|PMID:6756221|PMID:6756222|PMID:8578905 8716142 Nkx2-8 NK2 homeobox 8 gene DOID:12859 choreatic disease ISO RGD:1321643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Benign hereditary chorea PMID:11971878 8716142 Nkx2-8 NK2 homeobox 8 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1321643 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8716160 Trim47 tripartite motif containing 47 gene DOID:0050797 peroxisomal acyl-CoA oxidase deficiency ISO RGD:1322764 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: STRAIGHT-CHAIN ACYL-CoA OXIDASE DEFICIENCY PMID:28492532 8716160 Trim47 tripartite motif containing 47 gene DOID:9002170 Experimental Neoplasms ISO RGD:1322764 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31981573 8716160 Trim47 tripartite motif containing 47 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1322764 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31981573 8716160 Trim47 tripartite motif containing 47 gene DOID:9008939 Breast Neoplasms ISO RGD:1322764 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31981573 8716171 Iqck IQ motif containing K gene DOID:10652 Alzheimer's disease ISO RGD:1605300 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30820047 8716185 Polr2a RNA polymerase II subunit A gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1352013 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 8716185 Polr2a RNA polymerase II subunit A gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1352013 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 8716185 Polr2a RNA polymerase II subunit A gene DOID:1059 intellectual disability ISO RGD:1352013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 8716185 Polr2a RNA polymerase II subunit A gene DOID:12177 common variable immunodeficiency ISO RGD:1352013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:28492532 8716185 Polr2a RNA polymerase II subunit A gene DOID:12858 Huntington's disease ISO RGD:1557071 D RGD:9068941 20200609 RGD PMID:20089533|REF_RGD_ID:10043799 8716185 Polr2a RNA polymerase II subunit A gene DOID:2729 dyskeratosis congenita ISO RGD:1352013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 8716185 Polr2a RNA polymerase II subunit A gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1352013 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 8716185 Polr2a RNA polymerase II subunit A gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1352013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 8716185 Polr2a RNA polymerase II subunit A gene DOID:630 genetic disease ISO RGD:1352013 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19344873|PMID:25741868|PMID:31353023 8716185 Polr2a RNA polymerase II subunit A gene DOID:9000637 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES ISO RGD:1352013 D RGD:7240710 20191030 OMIM 8716185 Polr2a RNA polymerase II subunit A gene DOID:9000637 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES ISO RGD:1352013 D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | ClinVar Annotator: match by term: POLR2A-related condition PMID:19344873|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31353023|PMID:33665635 8716185 Polr2a RNA polymerase II subunit A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:24033266|PMID:25741868 8716185 Polr2a RNA polymerase II subunit A gene DOID:9005600 Infarction ISO RGD:1587326 D RGD:9068941 20200609 RGD PMID:22535878|REF_RGD_ID:9681722 8716185 Polr2a RNA polymerase II subunit A gene DOID:9008582 Developmental Disease ISO RGD:1352013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8716236 Tmem216 transmembrane protein 216 gene DOID:0050777 Joubert syndrome ISO RGD:1602714 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:20036350|PMID:20301500|PMID:20512146|PMID:22282472|PMID:23351400|PMID:24033266|PMID:25741868|PMID:26092869|PMID:26673778|PMID:28492532|PMID:28497568|PMID:31964843|PMID:36788019|PMID:37486637 8716236 Tmem216 transmembrane protein 216 gene DOID:0050778 Meckel syndrome ISO RGD:1602714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:28492532 8716236 Tmem216 transmembrane protein 216 gene DOID:0070116 Meckel syndrome 2 ISO RGD:1602714 D RGD:7240710 20180130 OMIM 8716236 Tmem216 transmembrane protein 216 gene DOID:0070116 Meckel syndrome 2 ISO RGD:1602714 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 2 | ClinVar Annotator: match by term: Meckel syndrome, type 2 PMID:16199547|PMID:18414213|PMID:20036350|PMID:20301500|PMID:20512146|PMID:22282472|PMID:23351400|PMID:24033266|PMID:25741868|PMID:26092869|PMID:26467025|PMID:26673778|PMID:28492532|PMID:28497568|PMID:31964843|PMID:32483926|PMID:34448047|PMID:36788019|PMID:37486637|PMID:39191256 8716236 Tmem216 transmembrane protein 216 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1602714 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8716236 Tmem216 transmembrane protein 216 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1602714 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:16199547|PMID:17576681|PMID:18414213|PMID:19763152|PMID:20036350|PMID:20301500|PMID:20307669|PMID:20512146|PMID:22282472|PMID:22406018|PMID:23351400|PMID:24033266|PMID:25741868|PMID:26092869|PMID:26467025|PMID:26673778|PMID:28492532|PMID:28497568|PMID:31964843|PMID:32483926|PMID:34448047|PMID:36788019|PMID:37486637|PMID:39191256|PMID:9536098 8716236 Tmem216 transmembrane protein 216 gene DOID:0110988 Joubert Syndrome 2 ISO RGD:1602714 D RGD:7240710 20180130 OMIM 8716236 Tmem216 transmembrane protein 216 gene DOID:0110988 Joubert Syndrome 2 ISO RGD:1602714 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Cerebellooculorenal syndrome 2 | ClinVar Annotator: match by term: Joubert syndrome 2 PMID:16199547|PMID:18414213|PMID:20036350|PMID:20301500|PMID:20512146|PMID:22282472|PMID:23351400|PMID:24033266|PMID:25741868|PMID:26092869|PMID:26467025|PMID:26673778|PMID:28492532|PMID:28497568|PMID:31964843|PMID:32483926|PMID:34448047|PMID:36788019|PMID:37486637|PMID:39191256 8716236 Tmem216 transmembrane protein 216 gene DOID:1059 intellectual disability ISO RGD:1602714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8716236 Tmem216 transmembrane protein 216 gene DOID:630 genetic disease ISO RGD:1602714 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20036350|PMID:20301500|PMID:20512146|PMID:22282472|PMID:24033266|PMID:25741868|PMID:26092869|PMID:26673778|PMID:28492532|PMID:31964843|PMID:36788019|PMID:37486637 8716236 Tmem216 transmembrane protein 216 gene DOID:8501 fundus dystrophy ISO RGD:1602714 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532|PMID:32483926|PMID:34448047 8716236 Tmem216 transmembrane protein 216 gene DOID:9006534 Nervous System Malformations ISO RGD:1602714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:20036350|PMID:20512146|PMID:25741868|PMID:26092869|PMID:26673778|PMID:28492532 8716236 Tmem216 transmembrane protein 216 gene DOID:9009232 Retinitis Pigmentosa 98 ISO RGD:1602714 D RGD:7240710 20241106 OMIM 8716236 Tmem216 transmembrane protein 216 gene DOID:9009232 Retinitis Pigmentosa 98 ISO RGD:1602714 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 98 PMID:16199547|PMID:20512146|PMID:25741868|PMID:28492532|PMID:39191256 8716258 Nsun7 NOP2/Sun RNA methyltransferase family member 7 gene DOID:12336 male infertility ISO RGD:1602865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17442852 8716258 Nsun7 NOP2/Sun RNA methyltransferase family member 7 gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:1602865 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES PMID:28492532 8716284 Camk2a calcium/calmodulin dependent protein kinase II alpha gene DOID:0060041 autism spectrum disorder ISO RGD:736752 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorders PMID:25741868 8716284 Camk2a calcium/calmodulin dependent protein kinase II alpha gene DOID:0080228 autosomal dominant intellectual developmental disorder 53 ISO RGD:736752 D RGD:7240710 20190315 OMIM 8716284 Camk2a calcium/calmodulin dependent protein kinase II alpha gene DOID:0080228 autosomal dominant intellectual developmental disorder 53 ISO RGD:736752 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: CAMK2A-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 53 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 PMID:25363768|PMID:25741868|PMID:25741872|PMID:28130356|PMID:29100089|PMID:29560374|PMID:29784083|PMID:30577886 8716284 Camk2a calcium/calmodulin dependent protein kinase II alpha gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:736752 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8716284 Camk2a calcium/calmodulin dependent protein kinase II alpha gene DOID:0081224 autosomal recessive intellectual developmental disorder 63 ISO RGD:736752 D RGD:7240710 20190315 OMIM 8716284 Camk2a calcium/calmodulin dependent protein kinase II alpha gene DOID:0081224 autosomal recessive intellectual developmental disorder 63 ISO RGD:736752 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 63 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63 PMID:25741868|PMID:29784083 8716284 Camk2a calcium/calmodulin dependent protein kinase II alpha gene DOID:1059 intellectual disability ISO RGD:736752 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25363768|PMID:25741868|PMID:28130356|PMID:29100089|PMID:29560374|PMID:29784083|PMID:30577886 8716284 Camk2a calcium/calmodulin dependent protein kinase II alpha gene DOID:10652 Alzheimer's disease ISO RGD:736752 D RGD:9068941 20200609 RGD PMID:15621017|REF_RGD_ID:13681926 8716284 Camk2a calcium/calmodulin dependent protein kinase II alpha gene DOID:14764 Larsen syndrome ISO RGD:736752 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Larsen syndrome, dominant type PMID:25741868 8716284 Camk2a calcium/calmodulin dependent protein kinase II alpha gene DOID:224 transient cerebral ischemia ISO RGD:10284 D RGD:9068941 20200609 RGD PMID:12199152|REF_RGD_ID:13681927 8716284 Camk2a calcium/calmodulin dependent protein kinase II alpha gene DOID:224 transient cerebral ischemia ISO RGD:2261 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:12951199|REF_RGD_ID:7241547 8716284 Camk2a calcium/calmodulin dependent protein kinase II alpha gene DOID:3070 high grade glioma disease_progression ISO RGD:736752 D RGD:9068941 20200609 RGD PMID:29393370|REF_RGD_ID:13702478 8716284 Camk2a calcium/calmodulin dependent protein kinase II alpha gene DOID:3312 bipolar disorder ISO RGD:10284 D RGD:9068941 20220825 MouseDO 8716284 Camk2a calcium/calmodulin dependent protein kinase II alpha gene DOID:3525 middle cerebral artery infarction ISO RGD:2261 D RGD:9068941 20200609 RGD PMID:14688616|REF_RGD_ID:1358416 8716284 Camk2a calcium/calmodulin dependent protein kinase II alpha gene DOID:630 genetic disease ISO RGD:736752 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:29560374 8716284 Camk2a calcium/calmodulin dependent protein kinase II alpha gene DOID:700 mitochondrial metabolism disease ISO RGD:736752 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:30673822 8716284 Camk2a calcium/calmodulin dependent protein kinase II alpha gene DOID:893 Wilson disease ISO RGD:736752 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23519153 8716284 Camk2a calcium/calmodulin dependent protein kinase II alpha gene DOID:9002211 Hyperalgesia ISO RGD:2261 D RGD:9068941 20200609 RGD PMID:18042863|REF_RGD_ID:7240711 8716284 Camk2a calcium/calmodulin dependent protein kinase II alpha gene DOID:9002211 Hyperalgesia ISO RGD:736752 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20053885 8716284 Camk2a calcium/calmodulin dependent protein kinase II alpha gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736752 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8716284 Camk2a calcium/calmodulin dependent protein kinase II alpha gene DOID:9004673 Hearing Loss, Cisplatin-Induced treatment ISO RGD:2261 D RGD:9068941 20200609 RGD PMID:23558232|REF_RGD_ID:9685025 8716284 Camk2a calcium/calmodulin dependent protein kinase II alpha gene DOID:9005369 Hepatomegaly ISO RGD:736752 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 8716284 Camk2a calcium/calmodulin dependent protein kinase II alpha gene DOID:9005372 Inflammation ISO RGD:2261 D RGD:9068941 20200609 RGD protein:increased expression:axon PMID:12176168|REF_RGD_ID:9685027 8716284 Camk2a calcium/calmodulin dependent protein kinase II alpha gene DOID:9005632 Cocaine-Related Disorders ISO RGD:736752 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14725635 8716284 Camk2a calcium/calmodulin dependent protein kinase II alpha gene DOID:9006956 nephrotoxicity treatment ISO RGD:2261 D RGD:9068941 20230622 RGD PMID:37244046|REF_RGD_ID:329853759 8716284 Camk2a calcium/calmodulin dependent protein kinase II alpha gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736752 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 8716284 Camk2a calcium/calmodulin dependent protein kinase II alpha gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736752 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8716284 Camk2a calcium/calmodulin dependent protein kinase II alpha gene DOID:9008086 Developmental Disabilities ISO RGD:736752 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:25741872 8716314 Klkb1 kallikrein B1 gene DOID:0050589 inflammatory bowel disease ISO RGD:67382 D RGD:9068941 20200609 RGD PMID:8625762|REF_RGD_ID:7327139 8716314 Klkb1 kallikrein B1 gene DOID:0050664 Bietti crystalline corneoretinal dystrophy ISO RGD:736915 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Bietti crystalline corneoretinal dystrophy PMID:17962476|PMID:25741868 8716314 Klkb1 kallikrein B1 gene DOID:0060041 autism spectrum disorder ISO RGD:736915 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25255310 8716314 Klkb1 kallikrein B1 gene DOID:0060903 thrombosis ISO RGD:736915 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25339356 8716314 Klkb1 kallikrein B1 gene DOID:0080162 lupus nephritis susceptibility ISO RGD:736915 D RGD:9068941 20200609 RGD DNA:SNPs:promoter: PMID:19307730|REF_RGD_ID:7327150 8716314 Klkb1 kallikrein B1 gene DOID:10763 hypertension ISO RGD:736915 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1; protein:increased expression:plasma: PMID:12716755|REF_RGD_ID:7327151 8716314 Klkb1 kallikrein B1 gene DOID:12849 autistic disorder ISO RGD:736915 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8716314 Klkb1 kallikrein B1 gene DOID:2213 hemorrhagic disease ISO RGD:736915 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868 8716314 Klkb1 kallikrein B1 gene DOID:2229 factor XI deficiency ISO RGD:736915 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary factor XI deficiency disease PMID:25741868|PMID:32581362|PMID:34355501 8716314 Klkb1 kallikrein B1 gene DOID:2566 corneal dystrophy ISO RGD:736915 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Corneal Dystrophy, Recessive | ClinVar Annotator: match by term: Corneal dystrophy PMID:25741868 8716314 Klkb1 kallikrein B1 gene DOID:2921 glomerulonephritis ISO RGD:736915 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:2173275|REF_RGD_ID:7327152 8716314 Klkb1 kallikrein B1 gene DOID:3410 carotid artery thrombosis ISO RGD:736915 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25339356 8716314 Klkb1 kallikrein B1 gene DOID:5082 liver cirrhosis ISO RGD:67382 D RGD:9068941 20200609 RGD PMID:14986822|REF_RGD_ID:7297050 8716314 Klkb1 kallikrein B1 gene DOID:9002165 Diabetic Nephropathies disease_progression ISO RGD:736915 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1; protein:increased expression:plasma: PMID:12716755|REF_RGD_ID:7327151 8716314 Klkb1 kallikrein B1 gene DOID:9002457 Experimental Arthritis ISO RGD:67382 D RGD:9068941 20200609 RGD PMID:22739815|PMID:9783057|REF_RGD_ID:7297047|REF_RGD_ID:7327138 8716314 Klkb1 kallikrein B1 gene DOID:9002805 Enterocolitis ISO RGD:67382 D RGD:9068941 20200609 RGD PMID:9783057|REF_RGD_ID:7327138 8716314 Klkb1 kallikrein B1 gene DOID:9003851 Prekallikrein Deficiency ISO RGD:736915 D RGD:7240710 20180130 OMIM 8716314 Klkb1 kallikrein B1 gene DOID:9003851 Prekallikrein Deficiency ISO RGD:736915 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Inherited prekallikrein deficiency | ClinVar Annotator: match by term: KLKB1-related condition | ClinVar Annotator: match by term: Prekallikrein deficiency PMID:12871337|PMID:14652634|PMID:15461630|PMID:17598838|PMID:19404525|PMID:25741868|PMID:28492532|PMID:31984307|PMID:32202057|PMID:33073460|PMID:33116287|PMID:34426522|PMID:34847617|PMID:35377536 8716314 Klkb1 kallikrein B1 gene DOID:9004484 Sepsis ISO RGD:67382 D RGD:9068941 20200609 RGD PMID:22352684|REF_RGD_ID:7297048 8716314 Klkb1 kallikrein B1 gene DOID:9009070 Herpes Simplex Encephalitis 1 ISO RGD:736915 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 PMID:15042513|PMID:25118264|PMID:25629076|PMID:28492532 8716314 Klkb1 kallikrein B1 gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:736915 D RGD:9068941 20200609 RGD DNA:SNPs:promoter: PMID:19307730|REF_RGD_ID:7327150 8716314 Klkb1 kallikrein B1 gene DOID:9477 pulmonary embolism ISO RGD:736915 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25339356 8716338 Slc41a3 solute carrier family 41 member 3 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1343810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 8716338 Slc41a3 solute carrier family 41 member 3 gene DOID:9270 alkaptonuria ISO RGD:1343810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 8716362 Tac4 tachykinin precursor 4 gene DOID:0111565 trichodontoosseous syndrome ISO RGD:735700 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Tricho-dento-osseous syndrome PMID:25741868 8716362 Tac4 tachykinin precursor 4 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:735700 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 PMID:38922859 8716381 Emc8 ER membrane protein complex subunit 8 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1322563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 8716390 Kif17 kinesin family member 17 gene DOID:0060041 autism spectrum disorder ISO RGD:1344438 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8716390 Kif17 kinesin family member 17 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1344438 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 8716390 Kif17 kinesin family member 17 gene DOID:0070541 3-hydroxy-3-methylglutaryl-CoA lyase deficiency ISO RGD:1344438 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 8716390 Kif17 kinesin family member 17 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1344438 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hyperprolinemia type 2 PMID:28492532 8716390 Kif17 kinesin family member 17 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1344438 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 8716432 Gdf11 growth differentiation factor 11 gene DOID:0050567 orofacial cleft ISO RGD:731907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Orofacial cleft PMID:31215115 8716432 Gdf11 growth differentiation factor 11 gene DOID:0070418 vertebral hypersegmentation and orofacial anomalies ISO RGD:731907 D RGD:7240710 20220406 OMIM 8716432 Gdf11 growth differentiation factor 11 gene DOID:0070418 vertebral hypersegmentation and orofacial anomalies ISO RGD:731907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vertebral hypersegmentation and orofacial anomalies PMID:25741868|PMID:31215115 8716432 Gdf11 growth differentiation factor 11 gene DOID:0080600 COVID-19 ISO RGD:731907 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8716432 Gdf11 growth differentiation factor 11 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:736225 D RGD:9068941 20230615 RGD mRNA, protein:decreased expression:heart (mouse) PMID:30765322|REF_RGD_ID:329849112 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:1354178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21532572 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:1354178 D RGD:9068941 20200609 RGD DNA:missensemutations:cds: PMID:21532572|REF_RGD_ID:9588627 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:0050696 fetal alcohol spectrum disorder ISO RGD:620979 D RGD:9068941 20240201 RGD mRNA,protein:increased expression:Pituitary gland (rat) PMID:26509893|REF_RGD_ID:11344152 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:0050700 cardiomyopathy ISO RGD:1552151 D RGD:9068941 20210521 RGD protein:increased expression:heart (mouse) PMID:32051532|REF_RGD_ID:126925233 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:0050753 cerebellar ataxia ISO RGD:1354178 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:0050902 medulloblastoma ISO RGD:1354178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19155313 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1354178 D RGD:9068941 20220210 CTD CTD Direct Evidence: marker/mechanism PMID:32431489 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:0050952 spastic ataxia ISO RGD:1354178 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:0050968 autosomal dominant cerebellar ataxia, deafness and narcolepsy ISO RGD:1354178 D RGD:7240710 20180130 OMIM 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:0050968 autosomal dominant cerebellar ataxia, deafness and narcolepsy ISO RGD:1354178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia, deafness and narcolepsy PMID:10210919|PMID:17576681|PMID:21532572|PMID:22328086|PMID:23365052|PMID:25326637|PMID:25678562|PMID:25741868|PMID:28334952|PMID:28492532|PMID:30165906|PMID:31984424|PMID:7898717|PMID:8747854|PMID:9536098 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1354178 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:0070158 hereditary sensory neuropathy type 1E ISO RGD:1354178 D RGD:7240710 20180130 OMIM 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:0070158 hereditary sensory neuropathy type 1E ISO RGD:1354178 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Dementia, Deafness, and Sensory Neuropathy | ClinVar Annotator: match by term: HSN IE | ClinVar Annotator: match by term: Hereditary sensory neuropathy type IE | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY, WITH HEARING LOSS AND DEMENTIA PMID:10210919|PMID:16199547|PMID:17576681|PMID:21532572|PMID:23365052|PMID:23521649|PMID:25326637|PMID:25741868|PMID:26467025|PMID:28166811|PMID:28492532|PMID:30165906|PMID:7898717|PMID:9536098 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:0070158 hereditary sensory neuropathy type 1E ISO RGD:1354178 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Dementia, Deafness, and Sensory Neuropathy | ClinVar Annotator: match by term: HSN IE | ClinVar Annotator: match by term: Hereditary sensory neuropathy type IE | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY, WITH HEARING LOSS AND DEMENTIA PMID:10210919|PMID:16199547|PMID:17576681|PMID:21532572|PMID:22328086|PMID:23365052|PMID:23521649|PMID:23904686|PMID:23911319|PMID:24727570|PMID:25326637|PMID:25678562|PMID:25741868|PMID:26467025|PMID:28334952|PMID:28492532|PMID:30165906|PMID:30342480|PMID:31049076|PMID:31984424|PMID:35640668|PMID:36394275|PMID:7898717|PMID:8747854|PMID:9536098 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:0070508 metabolic dysfunction and alcohol associated liver disease ISO RGD:1552151 D RGD:9068941 20200609 RGD PMID:22905112|REF_RGD_ID:9588654 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:0111989 immunodeficiency 35 ISO RGD:1354178 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Immunodeficiency 35 PMID:22402565|PMID:26304966|PMID:28492532 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:10283 prostate cancer disease_progression ISO RGD:1354178 D RGD:9068941 20200609 RGD protein:increased expression:nucleus: PMID:24038143|REF_RGD_ID:9588628 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1354178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10210919|PMID:21532572|PMID:23365052|PMID:23521649|PMID:24727570|PMID:25326637|PMID:25678562|PMID:25741868|PMID:28334952|PMID:28492532|PMID:7898717 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:11054 urinary bladder cancer ISO RGD:1354178 D RGD:9068941 20200609 RGD protein:increased expression PMID:14634451|REF_RGD_ID:2301220 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1354178 D RGD:9068941 20210521 RGD protein:increased expression:cardiac muscle tissue of interventricular septum (human) PMID:32051532|REF_RGD_ID:126925233 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:12361 Graves' disease treatment ISO RGD:1354178 D RGD:9068941 20200609 RGD DNA:polymorphism: :32204 G>A(human) PMID:23039890|REF_RGD_ID:9588624 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:12859 choreatic disease ISO RGD:1354178 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Choreatic disease PMID:25741868 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:1307 dementia ISO RGD:1354178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21532572 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:1324 lung cancer disease_progression ISO RGD:1354178 D RGD:9068941 20200609 RGD protein:increased expression:lung: PMID:24548441|REF_RGD_ID:9588658 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:1324 lung cancer disease_progression ISO RGD:1354178 D RGD:9068941 20211210 RGD protein:increased expression:lung (human) PMID:21496867|REF_RGD_ID:150530293 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:13810 familial hypercholesterolemia ISO RGD:1354178 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia PMID:20809525|PMID:21382890|PMID:28492532|PMID:28645073 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:1682 congenital heart disease ISO RGD:620979 D RGD:9068941 20200609 RGD associated with Vitamin A Deficiency; mRNA:increased expression:heart: PMID:23333085|REF_RGD_ID:9588314 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:2030 anxiety disorder ISO RGD:1354178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23791455 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:2526 prostate adenocarcinoma ISO RGD:1552151 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:prostate gland: PMID:17178860|REF_RGD_ID:2289681 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:2841 asthma ISO RGD:1354178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23423710 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:2841 asthma ISO RGD:1552151 D RGD:9068941 20200609 RGD DNA,mRNA:hypermethylation,decreased expression:promoter,respiratory tract: PMID:23196709|REF_RGD_ID:9588646 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:288 endometriosis of uterus ISO RGD:1354178 D RGD:9068941 20200609 RGD protein:increased expression:ectopic endometrium: PMID:22572543|REF_RGD_ID:9588664 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:289 endometriosis ISO RGD:1354178 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:endometrium: PMID:21316665|REF_RGD_ID:9588653 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:299 adenocarcinoma ISO RGD:1354178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17571247 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:305 carcinoma ISO RGD:1354178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21458988 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:3525 middle cerebral artery infarction ISO RGD:1552151 D RGD:9068941 20200609 RGD PMID:11726790|REF_RGD_ID:9588643 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1354178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29844410 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:1354178 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:19424621|REF_RGD_ID:9588974 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:3905 lung carcinoma disease_progression ISO RGD:620979 D RGD:9068941 20200609 RGD protein:increased expression:nucleus: PMID:21163286|REF_RGD_ID:9588222 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1354178 D RGD:9068941 20210430 RGD PMID:32211850|REF_RGD_ID:126848780 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1354178 D RGD:9068941 20210430 RGD PMID:32211850|REF_RGD_ID:126848780 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:417 autoimmune disease ISO RGD:1552151 D RGD:9068941 20200609 RGD PMID:23444399|REF_RGD_ID:9588650 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1354178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27292127 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:4531 mucoepidermoid carcinoma disease_progression ISO RGD:1354178 D RGD:9068941 20200609 RGD PMID:15999364|REF_RGD_ID:9588574 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:4926 bronchiolo-alveolar adenocarcinoma disease_progression ISO RGD:1354178 D RGD:9068941 20200609 RGD PMID:19484794|REF_RGD_ID:4140940 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:5082 liver cirrhosis ISO RGD:620979 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:liver: PMID:24211420|REF_RGD_ID:9588224 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:535 sleep disorder ISO RGD:1354178 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sleep disturbance PMID:25741868 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:5419 schizophrenia ISO RGD:1354178 D RGD:9068941 20200609 RGD mRNA:increased expression:GABAergic interneuron PMID:17264840|REF_RGD_ID:9588642 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:5419 schizophrenia ISO RGD:1552151 D RGD:9068941 20200609 RGD PMID:22564440|REF_RGD_ID:9588973 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:5572 Beckwith-Wiedemann syndrome ISO RGD:1354178 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: EMG Syndrome PMID:25741868|PMID:28492532|PMID:30165906 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:6000 congestive heart failure ISO RGD:620979 D RGD:9068941 20200609 RGD protein:increased expression:atrium: PMID:23573917|REF_RGD_ID:9588286 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:630 genetic disease ISO RGD:1354178 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:21532572|PMID:24727570|PMID:25678562|PMID:25741868|PMID:28492532|PMID:30165906|PMID:31049076|PMID:35640668|PMID:36394275|PMID:9536098 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:620979 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:11844796|REF_RGD_ID:2289670 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:7148 rheumatoid arthritis severity ISO RGD:1354178 D RGD:9068941 20200609 RGD mRNA:increased expression:mononuclear cell PMID:20937307|REF_RGD_ID:9588623 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:8456 choline deficiency disease ISO RGD:620979 D RGD:9068941 20200609 RGD DNA:hypermethylation:liver: PMID:17724018|REF_RGD_ID:9588267 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:8552 chronic myeloid leukemia disease_progression ISO RGD:1354178 D RGD:9068941 20200609 RGD PMID:11222358|REF_RGD_ID:9588667 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:8634 prostate carcinoma in situ ISO RGD:1354178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22581815 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1354178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17571247|PMID:21458988 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:9000998 Brain Injuries ISO RGD:620979 D RGD:9068941 20200609 RGD PMID:19429151|REF_RGD_ID:9588608 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:620979 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:hippocampus: PMID:16380407|REF_RGD_ID:9588242 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:620979 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney: PMID:12869365|REF_RGD_ID:9588619 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:620979 D RGD:9068941 20200609 RGD mRNA:increased expression:adrenal gland: PMID:24717552|REF_RGD_ID:9590296 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1354178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22581815 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1552151 D RGD:9068941 20200609 RGD PMID:20584988|REF_RGD_ID:9588671 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:9002304 Prostatic Neoplasms treatment ISO RGD:1552151 D RGD:9068941 20200609 RGD PMID:24038143|REF_RGD_ID:9588628 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:9002457 Experimental Arthritis ISO RGD:1354178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25194984 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:9002488 Peritoneal Fibrosis ISO RGD:620979 D RGD:9068941 20200609 RGD protein:increased expression:peritoneum: PMID:25256793|REF_RGD_ID:9588609 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:9002598 Spastic Paraparesis ISO RGD:1354178 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Spastic paraparesis PMID:25741868 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:9002762 Ovarian Neoplasms susceptibility ISO RGD:1354178 D RGD:9068941 20200609 RGD DNA:SNPs: :rs2228611,rs759920 (human) PMID:23666104|REF_RGD_ID:9588645 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:1354178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19723570 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:9002928 Colonic Neoplasms treatment ISO RGD:620979 D RGD:9068941 20200609 RGD PMID:19723570|REF_RGD_ID:9588972 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:9003036 Oral Lichen Planus ISO RGD:1354178 D RGD:9068941 20200609 RGD protein:increased expression:mouth mucosa: PMID:22236544|REF_RGD_ID:9589075 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1354178 D RGD:9068941 20200609 RGD protein:increased expression PMID:17196739|REF_RGD_ID:2301221 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:1354178 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:9004078 Pancreatic Intraepithelial Neoplasia ISO RGD:1354178 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:19424621|REF_RGD_ID:9588974 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:9004265 Endometrioid Carcinomas ISO RGD:1354178 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:uterus: PMID:15721400|REF_RGD_ID:9588596 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:9004538 Hearing Loss ISO RGD:1354178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21532572 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1354178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28544374 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:9004866 Ataxia ISO RGD:1354178 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia PMID:25741868|PMID:28492532 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:9006302 Binge Drinking ISO RGD:1552151 D RGD:9068941 20200609 RGD protein:increased expression:nucleus accumbens: PMID:23423140|REF_RGD_ID:9588287 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:9007702 Carcinogenesis disease_progression ISO RGD:620979 D RGD:9068941 20200609 RGD PMID:21163286|REF_RGD_ID:9588222 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1354178 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:uterus: PMID:15721400|REF_RGD_ID:9588596 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:9008443 Colorectal Neoplasms treatment ISO RGD:620979 D RGD:9068941 20200609 RGD PMID:23717604|REF_RGD_ID:9588299 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1354178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22520950|PMID:28544374 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:1354178 D RGD:9068941 20200609 RGD mRNA:decreased expression:T cell: PMID:21595664|REF_RGD_ID:9588656 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:9074 systemic lupus erythematosus no_association ISO RGD:1354178 D RGD:9068941 20200609 RGD PMID:18194272|REF_RGD_ID:9588670 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1354178 D RGD:9068941 20200609 RGD mRNA:increased expression:CD34+ bone marrow cells PMID:11222358|REF_RGD_ID:9588667 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:620979 D RGD:9068941 20200609 RGD mRNA:increased expression:liver: PMID:21818837|REF_RGD_ID:7207079 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:986 alopecia areata ISO RGD:1354178 D RGD:9068941 20200609 RGD mRNA:increased expression:mononuclear cell: PMID:21936853|REF_RGD_ID:9587460 8716485 Ifi16 interferon gamma inducible protein 16 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1344171 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 8716485 Ifi16 interferon gamma inducible protein 16 gene DOID:1540 parathyroid carcinoma ISO RGD:1344171 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8716485 Ifi16 interferon gamma inducible protein 16 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1557521 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8716485 Ifi16 interferon gamma inducible protein 16 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344171 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8716486 Laptm5 lysosomal protein transmembrane 5 gene DOID:2986 IgA glomerulonephritis ISO RGD:1354375 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25133636 8716486 Laptm5 lysosomal protein transmembrane 5 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1354375 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8716527 Figla folliculogenesis specific bHLH transcription factor gene DOID:0080863 primary ovarian insufficiency 6 ISO RGD:1602165 D RGD:7240710 20180130 OMIM 8716527 Figla folliculogenesis specific bHLH transcription factor gene DOID:0080863 primary ovarian insufficiency 6 ISO RGD:1602165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 6 PMID:18499083|PMID:25314148|PMID:25741868|PMID:29914564|PMID:30474133 8716527 Figla folliculogenesis specific bHLH transcription factor gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:1602165 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:25741868 8716527 Figla folliculogenesis specific bHLH transcription factor gene DOID:543 dystonia ISO RGD:1602165 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8716527 Figla folliculogenesis specific bHLH transcription factor gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1602165 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:25741868 8716527 Figla folliculogenesis specific bHLH transcription factor gene DOID:630 genetic disease ISO RGD:1602165 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8716527 Figla folliculogenesis specific bHLH transcription factor gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1602165 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8716554 Cst8 cystatin 8 gene DOID:0070219 familial hyperinsulinemic hypoglycemia 1 ISO RGD:736077 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 PMID:38605124 8716554 Cst8 cystatin 8 gene DOID:12336 male infertility ISO RGD:736077 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20811015 8716593 Hdgf heparin binding growth factor gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:735331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 8716593 Hdgf heparin binding growth factor gene DOID:0111940 immunodeficiency 42 ISO RGD:735331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8716593 Hdgf heparin binding growth factor gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:735331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8716593 Hdgf heparin binding growth factor gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:735331 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8716593 Hdgf heparin binding growth factor gene DOID:1540 parathyroid carcinoma ISO RGD:735331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8716593 Hdgf heparin binding growth factor gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:735331 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 8716593 Hdgf heparin binding growth factor gene DOID:5812 MHC class II deficiency ISO RGD:735331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8716593 Hdgf heparin binding growth factor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:735331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8716606 Card9 caspase recruitment domain family member 9 gene DOID:0050589 inflammatory bowel disease ISO RGD:732385 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21983784 8716606 Card9 caspase recruitment domain family member 9 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:732385 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 8716606 Card9 caspase recruitment domain family member 9 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:732385 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 8716606 Card9 caspase recruitment domain family member 9 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:732385 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 8716606 Card9 caspase recruitment domain family member 9 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:732385 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8716606 Card9 caspase recruitment domain family member 9 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:732385 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 8716606 Card9 caspase recruitment domain family member 9 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:732385 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 8716606 Card9 caspase recruitment domain family member 9 gene DOID:0081097 Rafiq syndrome ISO RGD:732385 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 8716606 Card9 caspase recruitment domain family member 9 gene DOID:0110980 Joubert syndrome 1 ISO RGD:732385 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:15786477|PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8716606 Card9 caspase recruitment domain family member 9 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:732385 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 8716606 Card9 caspase recruitment domain family member 9 gene DOID:2986 IgA glomerulonephritis ISO RGD:732385 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25305756 8716606 Card9 caspase recruitment domain family member 9 gene DOID:3652 Leigh disease ISO RGD:732385 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 8716606 Card9 caspase recruitment domain family member 9 gene DOID:612 primary immunodeficiency disease ISO RGD:732385 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 8716606 Card9 caspase recruitment domain family member 9 gene DOID:630 genetic disease ISO RGD:732385 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8716606 Card9 caspase recruitment domain family member 9 gene DOID:7147 ankylosing spondylitis ISO RGD:732385 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21743469 8716606 Card9 caspase recruitment domain family member 9 gene DOID:8466 retinal degeneration ISO RGD:708370 D RGD:9068941 20230525 RGD associated with hyperaldosterone; mRNA:decreased expression:retina (rat) PMID:29713904|REF_RGD_ID:152025547 8716606 Card9 caspase recruitment domain family member 9 gene DOID:8577 ulcerative colitis ISO RGD:732385 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20228799 8716606 Card9 caspase recruitment domain family member 9 gene DOID:9004745 RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES ISO RGD:708370 D RGD:9068941 20230525 RGD associated with hyperaldosterone; mRNA:decreased expression:retina (rat) PMID:29713904|REF_RGD_ID:152025547 8716606 Card9 caspase recruitment domain family member 9 gene DOID:9005249 Immunodeficiency 103 ISO RGD:732385 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: CARD9 IMMUNODEFICIENCY | ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS PMID:16199547|PMID:17576681|PMID:19864672|PMID:21983784|PMID:22730530|PMID:23335372|PMID:24033266|PMID:24068945|PMID:24131138|PMID:24231284|PMID:24704721|PMID:25702837|PMID:25731871|PMID:25741868|PMID:25933095|PMID:26038974|PMID:26521038|PMID:26679537|PMID:26961233|PMID:27490946|PMID:27777981|PMID:28252032|PMID:28492532|PMID:28842327|PMID:29080677|PMID:29307770|PMID:29890237|PMID:30136218|PMID:30429846|PMID:30537277|PMID:30809743|PMID:30837984|PMID:31102464|PMID:31414217|PMID:31469433|PMID:32888943|PMID:33414972|PMID:33558980|PMID:33872781|PMID:34234782|PMID:35628702|PMID:35727133|PMID:35753512|PMID:9536098|PMID:9835960 8716606 Card9 caspase recruitment domain family member 9 gene DOID:9005249 Immunodeficiency 103 susceptibility ISO RGD:732385 D RGD:7240710 20220629 OMIM 8716606 Card9 caspase recruitment domain family member 9 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:732385 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532|PMID:29907982 8716639 Rph3a rabphilin 3A gene DOID:0080600 COVID-19 ISO RGD:1347244 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8716639 Rph3a rabphilin 3A gene DOID:630 genetic disease ISO RGD:1347244 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8716732 Pigf phosphatidylinositol glycan anchor biosynthesis class F gene DOID:3883 Lynch syndrome ISO RGD:1351645 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 8716732 Pigf phosphatidylinositol glycan anchor biosynthesis class F gene DOID:9001770 ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME ISO RGD:1351645 D RGD:7240710 20210818 OMIM 8716732 Pigf phosphatidylinositol glycan anchor biosynthesis class F gene DOID:9001770 ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME ISO RGD:1351645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome PMID:33386993 8716732 Pigf phosphatidylinositol glycan anchor biosynthesis class F gene DOID:9004904 SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES ISO RGD:1351645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature with microcephaly and distinctive facies PMID:27250922 8716765 Cd47 CD47 molecule gene DOID:3312 bipolar disorder ISO RGD:737350 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 8716803 Tmem104 transmembrane protein 104 gene DOID:2513 basal cell carcinoma ISO RGD:1606542 D RGD:9068941 20240606 CTD CTD Direct Evidence: marker/mechanism PMID:36428691 8716819 Prpf3 pre-mRNA processing factor 3 gene DOID:0110356 retinitis pigmentosa 18 ISO RGD:1321525 D RGD:7240710 20180130 OMIM 8716819 Prpf3 pre-mRNA processing factor 3 gene DOID:0110356 retinitis pigmentosa 18 ISO RGD:1321525 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: PRPF3-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 18 PMID:11773002|PMID:15085354|PMID:16799052|PMID:17517693|PMID:17932117|PMID:18412284|PMID:20309403|PMID:20811066|PMID:21378395|PMID:25111227|PMID:25741868|PMID:28492532|PMID:28559085|PMID:28848678|PMID:29847639|PMID:31054281|PMID:31456290|PMID:31816670|PMID:32036094|PMID:32037395|PMID:32531858|PMID:33576794|PMID:33749171|PMID:35138024|PMID:36460718 8716819 Prpf3 pre-mRNA processing factor 3 gene DOID:0111940 immunodeficiency 42 ISO RGD:1321525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8716819 Prpf3 pre-mRNA processing factor 3 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1321525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8716819 Prpf3 pre-mRNA processing factor 3 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1321525 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8716819 Prpf3 pre-mRNA processing factor 3 gene DOID:10584 retinitis pigmentosa ISO RGD:1321525 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:11773002|PMID:15085354|PMID:17932117|PMID:20309403|PMID:20811066|PMID:21378395|PMID:25111227|PMID:25741868|PMID:28492532|PMID:28559085|PMID:28848678|PMID:29847639|PMID:31054281|PMID:31456290|PMID:31816670|PMID:32037395|PMID:32531858|PMID:33749171|PMID:34906470|PMID:35138024|PMID:36460718 8716819 Prpf3 pre-mRNA processing factor 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1321525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8716819 Prpf3 pre-mRNA processing factor 3 gene DOID:5812 MHC class II deficiency ISO RGD:1321525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8716819 Prpf3 pre-mRNA processing factor 3 gene DOID:630 genetic disease ISO RGD:1321525 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8716819 Prpf3 pre-mRNA processing factor 3 gene DOID:8501 fundus dystrophy ISO RGD:1321525 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11773002|PMID:15085354|PMID:16799052|PMID:17517693|PMID:17932117|PMID:20309403|PMID:20811066|PMID:21378395|PMID:25111227|PMID:25741868|PMID:27886254|PMID:28492532|PMID:28559085|PMID:28848678|PMID:29847639|PMID:31054281|PMID:31456290|PMID:31816670|PMID:32036094|PMID:32037395|PMID:32531858|PMID:33576794|PMID:33749171|PMID:35138024|PMID:36460718 8716819 Prpf3 pre-mRNA processing factor 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8716887 Lsm8 LSM8 homolog, U6 small nuclear RNA associated gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1318211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8716901 H1-4 H1.4 linker histone, cluster member gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1345558 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 8716901 H1-4 H1.4 linker histone, cluster member gene DOID:0110535 autosomal recessive nonsyndromic deafness 9 ISO RGD:1345558 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder PMID:25741868|PMID:28475857|PMID:29704315|PMID:31130284|PMID:31400068|PMID:31447100 8716901 H1-4 H1.4 linker histone, cluster member gene DOID:630 genetic disease ISO RGD:1345558 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23945933|PMID:25081361|PMID:25741868|PMID:25741869|PMID:28475857|PMID:31447100|PMID:33270410|PMID:39825153 8716901 H1-4 H1.4 linker histone, cluster member gene DOID:9002839 Rahman Syndrome ISO RGD:1345558 D RGD:7240710 20190315 OMIM 8716901 H1-4 H1.4 linker histone, cluster member gene DOID:9002839 Rahman Syndrome ISO RGD:1345558 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: H1-4-related condition | ClinVar Annotator: match by term: Rahman syndrome PMID:23945933|PMID:25081361|PMID:25741868|PMID:25741869|PMID:28475857|PMID:28492532|PMID:29383847|PMID:29704315|PMID:31130284|PMID:31400068|PMID:31447100|PMID:33270410|PMID:39825153 8716901 H1-4 H1.4 linker histone, cluster member gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:33270410 8716901 H1-4 H1.4 linker histone, cluster member gene DOID:9008582 Developmental Disease ISO RGD:1345558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8716901 H1-4 H1.4 linker histone, cluster member gene DOID:9538 multiple myeloma ISO RGD:1345558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 8716920 Mapk6 mitogen-activated protein kinase 6 gene DOID:0080600 COVID-19 ISO RGD:733646 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8716920 Mapk6 mitogen-activated protein kinase 6 gene DOID:2717 Bloom syndrome ISO RGD:733646 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8716920 Mapk6 mitogen-activated protein kinase 6 gene DOID:607 paraplegia ISO RGD:733646 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:21620353|PMID:21937992|PMID:23472171|PMID:28492532|PMID:30237576|PMID:30732576|PMID:31688942 8716920 Mapk6 mitogen-activated protein kinase 6 gene DOID:9002221 Hyperplasia ISO RGD:733646 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561872 8716920 Mapk6 mitogen-activated protein kinase 6 gene DOID:9256 colorectal cancer ISO RGD:733646 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8716939 Ly6g6f lymphocyte antigen 6 family member G6F gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1342827 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8716939 Ly6g6f lymphocyte antigen 6 family member G6F gene DOID:11372 megacolon ISO RGD:1342827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8716957 Hpgd 15-hydroxyprostaglandin dehydrogenase gene DOID:0050589 inflammatory bowel disease ISO RGD:736886 D RGD:9068941 20200609 RGD protein, mRNA:increased expression: colonic mucosa: inflamed tissue only PMID:16195422|REF_RGD_ID:5688766 8716957 Hpgd 15-hydroxyprostaglandin dehydrogenase gene DOID:14283 primary hypertrophic osteoarthropathy ISO RGD:736886 D RGD:7240710 20180130 OMIM 8716957 Hpgd 15-hydroxyprostaglandin dehydrogenase gene DOID:14283 primary hypertrophic osteoarthropathy ISO RGD:736886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cranioosteoarthropathy | ClinVar Annotator: match by term: Isolated congenital digital clubbing PMID:17551338|PMID:18500342|PMID:18805827|PMID:19306095|PMID:25741868|PMID:28492532|PMID:32282352|PMID:9402870 8716957 Hpgd 15-hydroxyprostaglandin dehydrogenase gene DOID:1520 colon carcinoma ISO RGD:736886 D RGD:9068941 20200609 RGD DNA:::adenoviral delivery of human gene in mouse model of colon cancer PMID:19494278|REF_RGD_ID:5688759 8716957 Hpgd 15-hydroxyprostaglandin dehydrogenase gene DOID:305 carcinoma treatment ISO RGD:620087 D RGD:9068941 20200609 RGD PMID:18058808|REF_RGD_ID:11667092 8716957 Hpgd 15-hydroxyprostaglandin dehydrogenase gene DOID:5394 prolactinoma ISO RGD:736886 D RGD:9068941 20200609 RGD mRNA:decreased expression:pituitary gland PMID:22580984|REF_RGD_ID:11667097 8716957 Hpgd 15-hydroxyprostaglandin dehydrogenase gene DOID:6255 growth hormone secreting pituitary adenoma ISO RGD:736886 D RGD:9068941 20200609 RGD mRNA:decreased expression:pituitary gland PMID:22580984|REF_RGD_ID:11667097 8716957 Hpgd 15-hydroxyprostaglandin dehydrogenase gene DOID:630 genetic disease ISO RGD:736886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8716957 Hpgd 15-hydroxyprostaglandin dehydrogenase gene DOID:6432 pulmonary hypertension ISO RGD:736886 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:24657469|REF_RGD_ID:11667099 8716957 Hpgd 15-hydroxyprostaglandin dehydrogenase gene DOID:750 peptic ulcer disease treatment ISO RGD:620087 D RGD:9068941 20200609 RGD PMID:23884819|REF_RGD_ID:11667098 8716957 Hpgd 15-hydroxyprostaglandin dehydrogenase gene DOID:9000622 Primary Hypertrophic Osteoarthropathy, Autosomal Recessive, 1 ISO RGD:736886 D RGD:7240710 20180130 OMIM 8716957 Hpgd 15-hydroxyprostaglandin dehydrogenase gene DOID:9000622 Primary Hypertrophic Osteoarthropathy, Autosomal Recessive, 1 ISO RGD:736886 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 PMID:17551338|PMID:18500342|PMID:19306095|PMID:19568269|PMID:24533558|PMID:24816859|PMID:25741868|PMID:28492532|PMID:29758562|PMID:30292630|PMID:32282352|PMID:35708829|PMID:9402870 8716957 Hpgd 15-hydroxyprostaglandin dehydrogenase gene DOID:9000972 Fever ISO RGD:620087 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver, lung PMID:12399253|REF_RGD_ID:2316279 8716957 Hpgd 15-hydroxyprostaglandin dehydrogenase gene DOID:9002304 Prostatic Neoplasms ISO RGD:736886 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8716957 Hpgd 15-hydroxyprostaglandin dehydrogenase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8716957 Hpgd 15-hydroxyprostaglandin dehydrogenase gene DOID:9004484 Sepsis ISO RGD:736887 D RGD:9068941 20200609 RGD protein: decreased expression PMID:9603077|REF_RGD_ID:5688768 8716957 Hpgd 15-hydroxyprostaglandin dehydrogenase gene DOID:9004547 Thyroid Neoplasms ISO RGD:736886 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11352223 8716957 Hpgd 15-hydroxyprostaglandin dehydrogenase gene DOID:9006166 Pulmonary Hypertension, Hypoxia-Induced ISO RGD:620087 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:24657469|REF_RGD_ID:11667099 8716957 Hpgd 15-hydroxyprostaglandin dehydrogenase gene DOID:9006195 Medullary Carcinomas ISO RGD:736886 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11352223 8716974 Vamp2 vesicle associated membrane protein 2 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:735448 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 8716974 Vamp2 vesicle associated membrane protein 2 gene DOID:12177 common variable immunodeficiency ISO RGD:735448 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:28492532 8716974 Vamp2 vesicle associated membrane protein 2 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:735448 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 8716974 Vamp2 vesicle associated membrane protein 2 gene DOID:2729 dyskeratosis congenita ISO RGD:735448 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 8716974 Vamp2 vesicle associated membrane protein 2 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:735448 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 8716974 Vamp2 vesicle associated membrane protein 2 gene DOID:630 genetic disease ISO RGD:735448 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8716974 Vamp2 vesicle associated membrane protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735448 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8716974 Vamp2 vesicle associated membrane protein 2 gene DOID:9005460 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS ISO RGD:735448 D RGD:7240710 20200318 OMIM 8716974 Vamp2 vesicle associated membrane protein 2 gene DOID:9005460 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS ISO RGD:735448 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements | ClinVar Annotator: match by term: VAMP2-related condition PMID:11691998|PMID:15475946|PMID:25741868|PMID:30144509|PMID:30929742|PMID:32906212|PMID:35468861 8716984 Dhcr24 24-dehydrocholesterol reductase gene DOID:0060041 autism spectrum disorder ISO RGD:1315197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24781735 8716984 Dhcr24 24-dehydrocholesterol reductase gene DOID:0080600 COVID-19 ISO RGD:1315197 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8716984 Dhcr24 24-dehydrocholesterol reductase gene DOID:10652 Alzheimer's disease ISO RGD:1315197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23042211 8716984 Dhcr24 24-dehydrocholesterol reductase gene DOID:11100 Q fever ISO RGD:1315197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16469060 8716984 Dhcr24 24-dehydrocholesterol reductase gene DOID:3146 lipid metabolism disorder ISO RGD:1315197 D RGD:9068941 20200609 RGD desmosterolosis, OMIM:602398, Y471S, N294T, K306N PMID:11519011|REF_RGD_ID:1600897 8716984 Dhcr24 24-dehydrocholesterol reductase gene DOID:5419 schizophrenia ISO RGD:1315197 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 8716984 Dhcr24 24-dehydrocholesterol reductase gene DOID:630 genetic disease ISO RGD:1315197 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:28518168|PMID:32461654|PMID:36413997 8716984 Dhcr24 24-dehydrocholesterol reductase gene DOID:9004193 Desmosterolosis ISO RGD:1315197 D RGD:7240710 20180130 OMIM 8716984 Dhcr24 24-dehydrocholesterol reductase gene DOID:9004193 Desmosterolosis ISO RGD:1315197 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: DHCR24-related condition | ClinVar Annotator: match by term: Desmosterolosis PMID:11519011|PMID:21559050|PMID:21671375|PMID:21902244|PMID:25326635|PMID:25741868|PMID:28492532|PMID:28518168|PMID:32461654|PMID:33027564|PMID:37236975 8716984 Dhcr24 24-dehydrocholesterol reductase gene DOID:9008386 Hydrops Fetalis ISO RGD:1315197 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:25741868|PMID:33027564|PMID:37236975 8717000 Tmem86a transmembrane protein 86A gene DOID:0110318 hypertrophic cardiomyopathy 12 ISO RGD:1601825 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 PMID:12642359|PMID:14567970|PMID:16352453|PMID:20087448|PMID:28492532|PMID:34558151 8717000 Tmem86a transmembrane protein 86A gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:1601825 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 8717000 Tmem86a transmembrane protein 86A gene DOID:1059 intellectual disability ISO RGD:1601825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8717046 Eif3g eukaryotic translation initiation factor 3 subunit G gene DOID:9004136 Cataplexy and Narcolepsy ISO RGD:1316234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataplexy and narcolepsy PMID:25669430 8717066 Kif23 kinesin family member 23 gene DOID:0080600 COVID-19 ISO RGD:1318460 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8717066 Kif23 kinesin family member 23 gene DOID:0111399 congenital dyserythropoietic anemia type IIIa ISO RGD:1318460 D RGD:7240710 20220406 OMIM 8717066 Kif23 kinesin family member 23 gene DOID:0111399 congenital dyserythropoietic anemia type IIIa ISO RGD:1318460 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type III | ClinVar Annotator: match by term: KIF23-related condition PMID:13867810|PMID:14886400|PMID:17576681|PMID:23570799|PMID:25741868|PMID:28492532|PMID:33159567|PMID:9536098 8717066 Kif23 kinesin family member 23 gene DOID:10907 microcephaly ISO RGD:1318460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:26539891 8717066 Kif23 kinesin family member 23 gene DOID:1338 congenital dyserythropoietic anemia ISO RGD:1318460 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism 8717066 Kif23 kinesin family member 23 gene DOID:2717 Bloom syndrome ISO RGD:1318460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8717066 Kif23 kinesin family member 23 gene DOID:684 hepatocellular carcinoma ISO RGD:1318460 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8717066 Kif23 kinesin family member 23 gene DOID:9256 colorectal cancer ISO RGD:1318460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8717092 Prkd3 protein kinase D3 gene DOID:0080690 RASopathy ISO RGD:1353868 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8717092 Prkd3 protein kinase D3 gene DOID:9004657 Weight Gain ISO RGD:1353868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 8717204 Cdk15 cyclin dependent kinase 15 gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1314644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 8717204 Cdk15 cyclin dependent kinase 15 gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:1314644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 8717204 Cdk15 cyclin dependent kinase 15 gene DOID:14557 primary pulmonary hypertension ISO RGD:1314644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:16429395|PMID:16429403|PMID:27453251|PMID:28492532|PMID:29743074 8717204 Cdk15 cyclin dependent kinase 15 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1314644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 8717204 Cdk15 cyclin dependent kinase 15 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8717204 Cdk15 cyclin dependent kinase 15 gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:1314644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 8717228 Psmf1 proteasome inhibitor subunit 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345633 D RGD:8554872 20241231 ClinVar ClinVar Annotator: match by term: Complex neurodevelopmental disorder with motor features PMID:25741868 8717240 Iqank1 IQ motif and ankyrin repeat containing 1 gene DOID:9003884 Recombinant Chromosome 8 Syndrome ISO RGD:12789538 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Recombinant 8 syndrome PMID:31690835 8717272 Adora2b adenosine A2b receptor gene DOID:9000965 Neoplasm Metastasis ISO RGD:731019 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27590504 8717272 Adora2b adenosine A2b receptor gene DOID:9004009 Reperfusion Injury ISO RGD:731019 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27757725 8717272 Adora2b adenosine A2b receptor gene DOID:9004484 Sepsis ISO RGD:731019 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27757725 8717272 Adora2b adenosine A2b receptor gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:731019 D RGD:9068941 20230128 CTD CTD Direct Evidence: therapeutic PMID:35292334 8717346 Apeh acylaminoacyl-peptide hydrolase gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735668 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 8717346 Apeh acylaminoacyl-peptide hydrolase gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:735668 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 8717346 Apeh acylaminoacyl-peptide hydrolase gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:735668 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 8717379 Clec4e C-type lectin domain family 4 member E gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1344050 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 8717379 Clec4e C-type lectin domain family 4 member E gene DOID:0060758 immunodeficiency with hyper-IgM type 2 ISO RGD:1344050 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyper-IgM syndrome type 2 PMID:16964591|PMID:28492532 8717379 Clec4e C-type lectin domain family 4 member E gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1344050 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:18712838|PMID:21031596|PMID:24399846|PMID:28492532|PMID:30626896 8717379 Clec4e C-type lectin domain family 4 member E gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1344050 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 8717379 Clec4e C-type lectin domain family 4 member E gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1344050 D RGD:8554872 20240716 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:18712838|PMID:21031596|PMID:24399846|PMID:28492532|PMID:30626896 8717379 Clec4e C-type lectin domain family 4 member E gene DOID:0111621 Temtamy syndrome ISO RGD:1344050 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 8717379 Clec4e C-type lectin domain family 4 member E gene DOID:850 lung disease ISO RGD:1344050 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21602193 8717379 Clec4e C-type lectin domain family 4 member E gene DOID:9000998 Brain Injuries ISO RGD:1344050 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21549006 8717379 Clec4e C-type lectin domain family 4 member E gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1344050 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8717395 Larp1b La ribonucleoprotein 1B gene DOID:0110722 neuronal ceroid lipofuscinosis 7 ISO RGD:1605666 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7 PMID:19177532|PMID:28492532 8717395 Larp1b La ribonucleoprotein 1B gene DOID:10283 prostate cancer ISO RGD:1605666 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8717418 Gnb2 G protein subunit beta 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:733685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8717418 Gnb2 G protein subunit beta 2 gene DOID:630 genetic disease ISO RGD:733685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8717418 Gnb2 G protein subunit beta 2 gene DOID:9001288 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES ISO RGD:733685 D RGD:7240710 20211027 OMIM 8717418 Gnb2 G protein subunit beta 2 gene DOID:9001288 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES ISO RGD:733685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and dysmorphic facies PMID:25741868|PMID:31698099|PMID:33971351|PMID:34183358 8717418 Gnb2 G protein subunit beta 2 gene DOID:9002070 Sick Sinus Syndrome 4 ISO RGD:733685 D RGD:7240710 20210818 OMIM 8717418 Gnb2 G protein subunit beta 2 gene DOID:9002070 Sick Sinus Syndrome 4 ISO RGD:733685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GNB2-related condition | ClinVar Annotator: match by term: Sick sinus syndrome 4 PMID:25741868|PMID:28219978|PMID:31698099|PMID:34183358 8717418 Gnb2 G protein subunit beta 2 gene DOID:9008086 Developmental Disabilities ISO RGD:733685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:33971351 8717435 G2e3 G2/M-phase specific E3 ubiquitin protein ligase gene DOID:607 paraplegia ISO RGD:1321062 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:21620353|PMID:25552650|PMID:27444738|PMID:28492532 8717435 G2e3 G2/M-phase specific E3 ubiquitin protein ligase gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1321062 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8717453 Unc5a unc-5 netrin receptor A gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1344019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 8717453 Unc5a unc-5 netrin receptor A gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1344019 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 8717453 Unc5a unc-5 netrin receptor A gene DOID:14748 Sotos syndrome ISO RGD:1344019 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Sotos syndrome PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 8717453 Unc5a unc-5 netrin receptor A gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1344019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 8717453 Unc5a unc-5 netrin receptor A gene DOID:9008063 Chromosome 5, Trisomy 5q ISO RGD:1344019 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 5q35 microduplication syndrome PMID:31690835 8717483 Gpr161 G protein-coupled receptor 161 gene DOID:0050902 medulloblastoma ISO RGD:1607069 D RGD:7240710 20221102 OMIM 8717483 Gpr161 G protein-coupled receptor 161 gene DOID:0050902 medulloblastoma ISO RGD:1607069 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Medulloblastoma PMID:23332756|PMID:23806086|PMID:25322266|PMID:25741868|PMID:28492532|PMID:31609649 8717483 Gpr161 G protein-coupled receptor 161 gene DOID:0111942 immunodeficiency 25 ISO RGD:1607069 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 25 PMID:28492532 8717483 Gpr161 G protein-coupled receptor 161 gene DOID:1540 parathyroid carcinoma ISO RGD:1607069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8717483 Gpr161 G protein-coupled receptor 161 gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:1607069 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:23332756|PMID:23806086|PMID:25322266|PMID:25741868|PMID:28492532 8717483 Gpr161 G protein-coupled receptor 161 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1607069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8717521 Capn3 calpain 3 gene DOID:0050557 congenital muscular dystrophy ISO RGD:731876 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy PMID:10330340|PMID:10679950|PMID:14578192|PMID:14981715|PMID:15221789|PMID:15351423|PMID:15689361|PMID:15725583|PMID:16100770|PMID:16141003|PMID:16372320|PMID:16411092|PMID:16650086|PMID:17157502|PMID:17318636|PMID:17702496|PMID:20301490|PMID:20635405|PMID:21204801|PMID:21984748|PMID:25135358|PMID:25741868|PMID:26404900|PMID:26467025|PMID:26484845|PMID:27142102|PMID:27259757|PMID:28492532|PMID:28881388|PMID:28914264|PMID:30028523|PMID:30919934|PMID:31066050|PMID:31263448|PMID:31517061|PMID:31788660|PMID:7720071|PMID:9266733 8717521 Capn3 calpain 3 gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:731876 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, recessive PMID:10102422|PMID:10330340|PMID:10567047|PMID:10679950|PMID:11053681|PMID:11166169|PMID:11245732|PMID:11297944|PMID:11371436|PMID:11525884|PMID:12461690|PMID:14578192|PMID:14645990|PMID:14981715|PMID:15138196|PMID:15221789|PMID:15351423|PMID:15689361|PMID:15725583|PMID:15733273|PMID:15843148|PMID:16001438|PMID:16100770|PMID:16141003|PMID:16199547|PMID:16372320|PMID:16411092|PMID:16542520|PMID:16607617|PMID:16627476|PMID:16650086|PMID:16816913|PMID:16971480|PMID:17157502|PMID:17236769|PMID:17318636|PMID:17526799|PMID:17562833|PMID:17576681|PMID:17596655|PMID:17702496|PMID:17979987|PMID:17994539|PMID:18055493|PMID:18258189|PMID:18334579|PMID:18337726|PMID:18414213|PMID:18563459|PMID:18854868|PMID:18854869|PMID:19015733|PMID:19048948|PMID:19156839|PMID:19226146|PMID:19285864|PMID:19364062|PMID:19556129|PMID:19835634|PMID:20044116|PMID:20301490|PMID:20517216|PMID:20635405|PMID:20694146|PMID:21204801|PMID:21624972|PMID:21984748|PMID:22158424|PMID:22378277|PMID:22443334|PMID:22486197|PMID:22926650|PMID:23169433|PMID:23553538|PMID:23757202|PMID:24033266|PMID:24123366|PMID:24715573|PMID:24803842|PMID:25046369|PMID:25079074|PMID:25135358|PMID:25215589|PMID:25252031|PMID:25326637|PMID:25741868|PMID:25802880|PMID:25987458|PMID:26060040|PMID:26301378|PMID:26363099|PMID:26404900|PMID:26467025|PMID:26484845|PMID:26632398|PMID:26677118|PMID:26810512|PMID:26886200|PMID:27023906|PMID:27055500|PMID:27066545|PMID:27066551|PMID:27066573|PMID:27081656|PMID:27142102|PMID:27259757|PMID:27262448|PMID:27431290|PMID:27447704|PMID:27500519|PMID:27558075|PMID:27671536|PMID:27708273|PMID:27818383|PMID:27854218|PMID:27884173|PMID:28403181|PMID:28492532|PMID:28602176|PMID:28877744|PMID:28881388|PMID:28914264|PMID:29797799|PMID:29970176|PMID:30028523|PMID:30056071|PMID:30500922|PMID:30564623|PMID:30919934|PMID:31066050|PMID:31263448|PMID:31517061|PMID:31555977|PMID:31788660|PMID:31862442|PMID:31931849|PMID:31937337|PMID:32342993|PMID:32403337|PMID:32528171|PMID:32557990|PMID:32576226|PMID:3258171|PMID:32668095|PMID:32896923|PMID:32994280|PMID:33250842|PMID:33337384|PMID:33386810|PMID:33931068|PMID:33963534|PMID:34355366|PMID:34440373|PMID:34720847|PMID:34863162|PMID:35135626|PMID:35157181|PMID:35169782|PMID:35239206|PMID:35309930|PMID:35731190|PMID:35734998|PMID:36381256|PMID:36575883|PMID:37526466|PMID:37589857|PMID:37712079|PMID:37974208|PMID:38374194|PMID:38812636|PMID:39825153|PMID:7318636|PMID:7720071|PMID:7762565|PMID:7795603|PMID:8624690|PMID:9150160|PMID:9266733|PMID:9536098|PMID:9642272|PMID:9655129|PMID:9762961|PMID:9777948 8717521 Capn3 calpain 3 gene DOID:0110275 autosomal recessive limb-girdle muscular dystrophy type 2A ISO RGD:731876 D RGD:7240710 20180130 OMIM 8717521 Capn3 calpain 3 gene DOID:0110275 autosomal recessive limb-girdle muscular dystrophy type 2A ISO RGD:731876 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2A | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2A PMID:10102422|PMID:10330340|PMID:10567047|PMID:10679950|PMID:11053681|PMID:11166169|PMID:11245732|PMID:11297944|PMID:11371436|PMID:11525884|PMID:11731278|PMID:12461690|PMID:12890817|PMID:14578192|PMID:14645990|PMID:14959561|PMID:14981715|PMID:15138196|PMID:15221789|PMID:15351423|PMID:15689361|PMID:15725583|PMID:15733273|PMID:15843148|PMID:15884399|PMID:16001438|PMID:16100770|PMID:16141003|PMID:16199547|PMID:16372320|PMID:16411092|PMID:16542520|PMID:16607617|PMID:16627476|PMID:16650086|PMID:16816913|PMID:1691480|PMID:16971480|PMID:17157502|PMID:17236769|PMID:17258832|PMID:17318636|PMID:17526799|PMID:17562833|PMID:17576681|PMID:17594342|PMID:17596655|PMID:17702496|PMID:17897828|PMID:17979987|PMID:17994539|PMID:18055493|PMID:18073330|PMID:18258189|PMID:18334579|PMID:18337726|PMID:18414213|PMID:18563459|PMID:18854868|PMID:18854869|PMID:19015733|PMID:19048948|PMID:19156839|PMID:19226146|PMID:19285864|PMID:19364062|PMID:19556129|PMID:19763152|PMID:19835634|PMID:20044116|PMID:20301490|PMID:20307669|PMID:20477750|PMID:20517216|PMID:20580976|PMID:20635405|PMID:20686710|PMID:20694146|PMID:21172462|PMID:21204801|PMID:21288883|PMID:21386772|PMID:21520333|PMID:21624972|PMID:21896784|PMID:21984748|PMID:22006685|PMID:22057634|PMID:22079131|PMID:22158424|PMID:22378277|PMID:22406018|PMID:22443334|PMID:22486197|PMID:22505582|PMID:22926650|PMID:23169433|PMID:23553538|PMID:23597518|PMID:23666804|PMID:23677060|PMID:23757202|PMID:23821418|PMID:23864287|PMID:24033266|PMID:24715573|PMID:24803842|PMID:24846670|PMID:25046369|PMID:25079074|PMID:25135358|PMID:25214167|PMID:25215589|PMID:25252031|PMID:25326637|PMID:25512505|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25783436|PMID:25898921|PMID:25987458|PMID:26060040|PMID:26301378|PMID:26363099|PMID:26404900|PMID:26467025|PMID:26484845|PMID:26501342|PMID:26583491|PMID:26632398|PMID:26677118|PMID:26810512|PMID:26886200|PMID:27011640|PMID:27020652|PMID:27023906|PMID:27055500|PMID:27066545|PMID:27066551|PMID:27066573|PMID:27081656|PMID:27142102|PMID:27234031|PMID:2725975|PMID:27259757|PMID:27262448|PMID:27363342|PMID:27431290|PMID:27447704|PMID:27500519|PMID:27558075|PMID:27671536|PMID:27708273|PMID:27818383|PMID:27854218|PMID:27884173|PMID:28103310|PMID:28300015|PMID:28403181|PMID:28492532|PMID:28602176|PMID:28877744|PMID:28881388|PMID:28914264|PMID:28915917|PMID:29149851|PMID:29685414|PMID:29797799|PMID:29970176|PMID:30028523|PMID:30056071|PMID:30107846|PMID:30500922|PMID:30538847|PMID:30564623|PMID:30919934|PMID:31028937|PMID:31066050|PMID:31069529|PMID:31127727|PMID:31130284|PMID:31263448|PMID:31268554|PMID:31410652|PMID:31517061|PMID:31555977|PMID:31589614|PMID:31671740|PMID:31788660|PMID:31862442|PMID:31931849|PMID:31937337|PMID:31980526|PMID:32140910|PMID:32342993|PMID:32403337|PMID:32528171|PMID:32557990|PMID:32576226|PMID:3258171|PMID:32646536|PMID:32668095|PMID:32896923|PMID:32994280|PMID:33107701|PMID:33250842|PMID:33335567|PMID:33337384|PMID:33448235|PMID:33931068|PMID:33963534|PMID:34008892|PMID:34323405|PMID:34355366|PMID:34426522|PMID:34440373|PMID:34602496|PMID:34687219|PMID:34697879|PMID:34720847|PMID:35135626|PMID:35157181|PMID:35169782|PMID:35239206|PMID:35309930|PMID:35734998|PMID:36575883|PMID:37712079|PMID:37852290|PMID:37974208|PMID:7318636|PMID:7720071|PMID:7762565|PMID:7795603|PMID:8624690|PMID:9150160|PMID:9246005|PMID:9266733|PMID:9452114|PMID:9536098|PMID:9642272|PMID:9655129|PMID:9762961|PMID:9771675|PMID:9777948 8717521 Capn3 calpain 3 gene DOID:0110275 autosomal recessive limb-girdle muscular dystrophy type 2A ISO RGD:731876 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2A | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2A PMID:10102422|PMID:10330340|PMID:10567047|PMID:10679950|PMID:11053681|PMID:11166169|PMID:11245732|PMID:11297944|PMID:11371436|PMID:11525884|PMID:11731278|PMID:12461690|PMID:12890817|PMID:14578192|PMID:14645990|PMID:14959561|PMID:14981715|PMID:15138196|PMID:15221789|PMID:15351423|PMID:15689361|PMID:15725583|PMID:15733273|PMID:15843148|PMID:15884399|PMID:16001438|PMID:16100770|PMID:16141003|PMID:16199547|PMID:16372320|PMID:16411092|PMID:16542520|PMID:16607617|PMID:16627476|PMID:16650086|PMID:16816913|PMID:1691480|PMID:16971480|PMID:17157502|PMID:17236769|PMID:17258832|PMID:17318636|PMID:17526799|PMID:17562833|PMID:17576681|PMID:17594342|PMID:17596655|PMID:17702496|PMID:17897828|PMID:17979987|PMID:17994539|PMID:18055493|PMID:18073330|PMID:18258189|PMID:18334579|PMID:18337726|PMID:18414213|PMID:18563459|PMID:18854868|PMID:18854869|PMID:19015733|PMID:19048948|PMID:19156839|PMID:19226146|PMID:19285864|PMID:19364062|PMID:19556129|PMID:19763152|PMID:19835634|PMID:20044116|PMID:20301490|PMID:20307669|PMID:20477750|PMID:20517216|PMID:20580976|PMID:20635405|PMID:20686710|PMID:20694146|PMID:21172462|PMID:21204801|PMID:21288883|PMID:21386772|PMID:21520333|PMID:21624972|PMID:21896784|PMID:21984748|PMID:22006685|PMID:22057634|PMID:22079131|PMID:22158424|PMID:22378277|PMID:22406018|PMID:22443334|PMID:22486197|PMID:22505582|PMID:22926650|PMID:23169433|PMID:23553538|PMID:23597518|PMID:23666804|PMID:23677060|PMID:23757202|PMID:23821418|PMID:23864287|PMID:24033266|PMID:24123366|PMID:24715573|PMID:24803842|PMID:24846670|PMID:25046369|PMID:25079074|PMID:25135358|PMID:25214167|PMID:25215589|PMID:25252031|PMID:25326637|PMID:25512505|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25783436|PMID:25802880|PMID:25898921|PMID:25987458|PMID:26060040|PMID:26206375|PMID:26301378|PMID:26363099|PMID:26404900|PMID:26467025|PMID:26484845|PMID:26501342|PMID:26583491|PMID:26632398|PMID:26677118|PMID:26810512|PMID:26886200|PMID:27011640|PMID:27020652|PMID:27023906|PMID:27055500|PMID:27066545|PMID:27066551|PMID:27066573|PMID:27081656|PMID:27142102|PMID:27234031|PMID:2725975|PMID:27259757|PMID:27262448|PMID:27363342|PMID:27431290|PMID:27447704|PMID:27500519|PMID:27558075|PMID:27671536|PMID:27708273|PMID:27818383|PMID:27854218|PMID:27884173|PMID:28103310|PMID:28300015|PMID:28403181|PMID:28492532|PMID:28602176|PMID:28877744|PMID:28881388|PMID:28914264|PMID:28915917|PMID:29149851|PMID:29685414|PMID:29797799|PMID:29970176|PMID:30028523|PMID:30056071|PMID:30107846|PMID:30500922|PMID:30538847|PMID:30564623|PMID:30838351|PMID:30919934|PMID:31028937|PMID:31066050|PMID:31069529|PMID:31127727|PMID:31130284|PMID:31263448|PMID:31268554|PMID:31410652|PMID:31517061|PMID:31555977|PMID:31589614|PMID:31671740|PMID:31788660|PMID:31862442|PMID:31931849|PMID:31937337|PMID:31980526|PMID:32140910|PMID:32342993|PMID:32403337|PMID:32528171|PMID:32557990|PMID:32576226|PMID:3258171|PMID:32646536|PMID:32668095|PMID:32896923|PMID:32994280|PMID:33107701|PMID:33250842|PMID:33335567|PMID:33337384|PMID:33386810|PMID:33448235|PMID:33931068|PMID:33963534|PMID:34008892|PMID:34323405|PMID:34355366|PMID:34426522|PMID:34440373|PMID:34602496|PMID:34687219|PMID:34697879|PMID:34720847|PMID:34863162|PMID:35135626|PMID:35157181|PMID:35169782|PMID:35239206|PMID:35309930|PMID:35731190|PMID:35734998|PMID:35741838|PMID:36381256|PMID:36575883|PMID:37273706|PMID:37377599|PMID:37526466|PMID:37589857|PMID:37712079|PMID:37852290|PMID:37974208|PMID:38361118|PMID:38374194|PMID:38391941|PMID:38812636|PMID:39825153|PMID:7318636|PMID:7720071|PMID:7762565|PMID:7795603|PMID:8624690|PMID:9150160|PMID:9246005|PMID:9266733|PMID:9452114|PMID:9536098|PMID:9642272|PMID:9655129|PMID:9762961|PMID:9771675|PMID:9777948 8717521 Capn3 calpain 3 gene DOID:0110276 autosomal recessive limb-girdle muscular dystrophy type 2B ISO RGD:731876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2B PMID:25741868|PMID:31263448 8717521 Capn3 calpain 3 gene DOID:0111338 isolated elevated serum creatine phosphokinase levels ISO RGD:731876 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC PMID:10330340|PMID:10679950|PMID:14578192|PMID:14981715|PMID:15221789|PMID:15351423|PMID:15689361|PMID:15725583|PMID:16100770|PMID:16141003|PMID:16372320|PMID:16411092|PMID:16650086|PMID:17157502|PMID:17236769|PMID:17318636|PMID:17702496|PMID:17979987|PMID:17994539|PMID:18055493|PMID:18854869|PMID:20301490|PMID:20635405|PMID:21204801|PMID:21984748|PMID:24803842|PMID:25135358|PMID:25741868|PMID:26301378|PMID:26404900|PMID:26467025|PMID:26484845|PMID:26886200|PMID:27142102|PMID:27259757|PMID:27447704|PMID:27708273|PMID:27884173|PMID:28492532|PMID:28877744|PMID:28881388|PMID:28914264|PMID:30028523|PMID:30919934|PMID:31066050|PMID:31263448|PMID:31517061|PMID:31788660|PMID:33386810|PMID:34720847|PMID:34863162|PMID:35135626|PMID:35157181|PMID:35731190|PMID:36381256|PMID:37526466|PMID:37589857|PMID:7720071|PMID:9266733 8717521 Capn3 calpain 3 gene DOID:11724 limb-girdle muscular dystrophy ISO RGD:731876 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy PMID:11371436|PMID:15221789|PMID:15689361|PMID:16141003|PMID:18854869|PMID:19226146|PMID:20635405|PMID:23553538|PMID:25046369|PMID:25741868|PMID:26404900|PMID:26467025|PMID:28492532|PMID:32528171|PMID:33931068|PMID:35157181|PMID:38812636 8717521 Capn3 calpain 3 gene DOID:2717 Bloom syndrome ISO RGD:731876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8717521 Capn3 calpain 3 gene DOID:318 progressive muscular atrophy ISO RGD:731876 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Progressive spinal muscular atrophy PMID:10330340|PMID:10679950|PMID:14578192|PMID:14981715|PMID:15221789|PMID:15351423|PMID:15689361|PMID:15725583|PMID:16100770|PMID:16141003|PMID:16372320|PMID:16411092|PMID:16650086|PMID:17157502|PMID:17236769|PMID:17318636|PMID:17702496|PMID:17979987|PMID:17994539|PMID:18055493|PMID:18854869|PMID:20301490|PMID:20635405|PMID:21204801|PMID:21984748|PMID:24803842|PMID:25135358|PMID:25741868|PMID:26301378|PMID:26404900|PMID:26467025|PMID:26484845|PMID:26886200|PMID:27142102|PMID:27259757|PMID:27447704|PMID:27708273|PMID:27884173|PMID:28492532|PMID:28877744|PMID:28881388|PMID:28914264|PMID:30028523|PMID:30919934|PMID:31066050|PMID:31263448|PMID:31517061|PMID:31788660|PMID:33386810|PMID:34720847|PMID:34863162|PMID:35135626|PMID:35157181|PMID:35731190|PMID:36381256|PMID:37526466|PMID:37589857|PMID:7720071|PMID:9266733 8717521 Capn3 calpain 3 gene DOID:423 myopathy ISO RGD:731876 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Myopathy PMID:10330340|PMID:10679950|PMID:14578192|PMID:14981715|PMID:15221789|PMID:15351423|PMID:15689361|PMID:15725583|PMID:16100770|PMID:16141003|PMID:16372320|PMID:16411092|PMID:16650086|PMID:17157502|PMID:17318636|PMID:17702496|PMID:20301490|PMID:20635405|PMID:21204801|PMID:21984748|PMID:25135358|PMID:25741868|PMID:26404900|PMID:26467025|PMID:26484845|PMID:27142102|PMID:27259757|PMID:28492532|PMID:28881388|PMID:28914264|PMID:30028523|PMID:30919934|PMID:31066050|PMID:31263448|PMID:31517061|PMID:31788660|PMID:7720071|PMID:9266733 8717521 Capn3 calpain 3 gene DOID:630 genetic disease ISO RGD:731876 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10330340|PMID:16971480|PMID:17526799|PMID:17562833|PMID:18337726|PMID:18414213|PMID:18563459|PMID:22926650|PMID:25741868|PMID:26467025|PMID:26810512|PMID:27259757|PMID:28492532|PMID:28881388|PMID:30564623|PMID:30919934|PMID:31066050|PMID:31555977|PMID:32342993|PMID:35135626|PMID:35734998 8717521 Capn3 calpain 3 gene DOID:6364 migraine ISO RGD:731876 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Migraine Disorders PMID:10330340|PMID:10679950|PMID:14578192|PMID:14981715|PMID:15221789|PMID:15351423|PMID:15689361|PMID:15725583|PMID:16100770|PMID:16141003|PMID:16372320|PMID:16411092|PMID:16650086|PMID:17157502|PMID:17236769|PMID:17318636|PMID:17702496|PMID:17979987|PMID:17994539|PMID:18055493|PMID:18854869|PMID:20301490|PMID:20635405|PMID:21204801|PMID:21984748|PMID:24803842|PMID:25135358|PMID:25741868|PMID:26301378|PMID:26404900|PMID:26467025|PMID:26484845|PMID:26886200|PMID:27142102|PMID:27259757|PMID:27447704|PMID:27708273|PMID:27884173|PMID:28492532|PMID:28877744|PMID:28881388|PMID:28914264|PMID:30028523|PMID:30919934|PMID:31066050|PMID:31263448|PMID:31517061|PMID:31788660|PMID:33386810|PMID:34720847|PMID:34863162|PMID:35135626|PMID:35157181|PMID:35731190|PMID:36381256|PMID:37526466|PMID:37589857|PMID:7720071|PMID:9266733 8717521 Capn3 calpain 3 gene DOID:684 hepatocellular carcinoma ISO RGD:2269 D RGD:9068941 20200609 RGD mRNA:decreased expression:skeletal muscle PMID:10806331|REF_RGD_ID:1600777 8717521 Capn3 calpain 3 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:731876 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:10330340|PMID:10679950|PMID:14578192|PMID:14981715|PMID:15221789|PMID:15351423|PMID:15689361|PMID:15725583|PMID:15733273|PMID:16100770|PMID:16141003|PMID:16372320|PMID:16411092|PMID:16650086|PMID:17157502|PMID:17236769|PMID:17318636|PMID:17702496|PMID:20301490|PMID:20635405|PMID:21204801|PMID:21984748|PMID:25135358|PMID:25741868|PMID:26404900|PMID:26467025|PMID:26484845|PMID:26501342|PMID:27142102|PMID:27259757|PMID:28492532|PMID:28881388|PMID:28914264|PMID:30028523|PMID:30919934|PMID:31066050|PMID:31263448|PMID:31517061|PMID:31788660|PMID:7720071|PMID:9266733 8717521 Capn3 calpain 3 gene DOID:9003242 Paresthesia ISO RGD:731876 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Paresthesia PMID:10330340|PMID:10679950|PMID:14578192|PMID:14981715|PMID:15221789|PMID:15351423|PMID:15689361|PMID:15725583|PMID:16100770|PMID:16141003|PMID:16372320|PMID:16411092|PMID:16650086|PMID:17157502|PMID:17236769|PMID:17318636|PMID:17702496|PMID:17979987|PMID:17994539|PMID:18055493|PMID:18854869|PMID:20301490|PMID:20635405|PMID:21204801|PMID:21984748|PMID:24803842|PMID:25135358|PMID:25741868|PMID:26301378|PMID:26404900|PMID:26467025|PMID:26484845|PMID:26886200|PMID:27142102|PMID:27259757|PMID:27447704|PMID:27708273|PMID:27884173|PMID:28492532|PMID:28877744|PMID:28881388|PMID:28914264|PMID:30028523|PMID:30919934|PMID:31066050|PMID:31263448|PMID:31517061|PMID:31788660|PMID:33386810|PMID:34720847|PMID:34863162|PMID:35135626|PMID:35157181|PMID:35731190|PMID:36381256|PMID:37526466|PMID:37589857|PMID:7720071|PMID:9266733 8717521 Capn3 calpain 3 gene DOID:9003997 Familial Idiopathic Inflammatory Myopathy ISO RGD:731876 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Familial idiopathic inflammatory myopathy PMID:25741868|PMID:28492532|PMID:32528171 8717521 Capn3 calpain 3 gene DOID:9005532 Muscle Weakness ISO RGD:731876 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Muscle weakness PMID:10330340|PMID:10679950|PMID:14578192|PMID:14981715|PMID:15221789|PMID:15351423|PMID:15689361|PMID:15725583|PMID:16100770|PMID:16141003|PMID:16372320|PMID:16411092|PMID:16650086|PMID:17157502|PMID:17318636|PMID:17702496|PMID:20301490|PMID:20635405|PMID:21204801|PMID:21984748|PMID:25135358|PMID:25741868|PMID:26404900|PMID:26467025|PMID:26484845|PMID:27142102|PMID:27259757|PMID:28492532|PMID:28881388|PMID:28914264|PMID:30028523|PMID:30919934|PMID:31066050|PMID:31263448|PMID:31517061|PMID:31788660|PMID:7720071|PMID:9266733 8717521 Capn3 calpain 3 gene DOID:9006843 Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 4 ISO RGD:731876 D RGD:7240710 20190911 OMIM 8717521 Capn3 calpain 3 gene DOID:9006843 Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 4 ISO RGD:731876 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: CAPN3-related disorder | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1I | ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal dominant 4 PMID:10102422|PMID:10330340|PMID:10567047|PMID:10679950|PMID:11053681|PMID:11166169|PMID:11245732|PMID:11297944|PMID:11371436|PMID:11525884|PMID:11731278|PMID:12461690|PMID:12890817|PMID:14578192|PMID:14645990|PMID:14981715|PMID:15138196|PMID:15221789|PMID:15351423|PMID:15689361|PMID:15725583|PMID:15733273|PMID:15843148|PMID:15884399|PMID:16001438|PMID:16100770|PMID:16141003|PMID:16199547|PMID:16372320|PMID:16411092|PMID:16542520|PMID:16607617|PMID:16627476|PMID:16650086|PMID:16816913|PMID:16971480|PMID:17157502|PMID:17236769|PMID:17258832|PMID:17318636|PMID:17526799|PMID:17562833|PMID:17576681|PMID:17594342|PMID:17596655|PMID:17702496|PMID:17897828|PMID:17979987|PMID:17994539|PMID:18055493|PMID:18073330|PMID:18258189|PMID:18334579|PMID:18337726|PMID:18414213|PMID:18563459|PMID:18854869|PMID:19015733|PMID:19048948|PMID:19156839|PMID:19226146|PMID:19285864|PMID:19364062|PMID:19556129|PMID:19835634|PMID:20044116|PMID:20301490|PMID:20517216|PMID:20580976|PMID:20635405|PMID:20694146|PMID:21172462|PMID:21204801|PMID:21288883|PMID:21386772|PMID:21520333|PMID:21624972|PMID:21984748|PMID:22006685|PMID:22057634|PMID:22158424|PMID:22378277|PMID:22443334|PMID:22505582|PMID:22926650|PMID:23169433|PMID:23553538|PMID:23666804|PMID:23677060|PMID:23757202|PMID:23821418|PMID:23864287|PMID:24033266|PMID:24715573|PMID:24803842|PMID:24846670|PMID:25046369|PMID:25079074|PMID:25135358|PMID:25214167|PMID:25215589|PMID:25252031|PMID:25326637|PMID:25512505|PMID:25525159|PMID:25741868|PMID:25987458|PMID:26060040|PMID:26301378|PMID:26363099|PMID:26404900|PMID:26467025|PMID:26484845|PMID:26501342|PMID:26632398|PMID:26677118|PMID:26810512|PMID:26886200|PMID:27011640|PMID:27020652|PMID:27023906|PMID:27055500|PMID:27066545|PMID:27066551|PMID:27066573|PMID:27081656|PMID:27142102|PMID:27234031|PMID:2725975|PMID:27259757|PMID:27262448|PMID:27363342|PMID:27431290|PMID:27447704|PMID:27500519|PMID:27558075|PMID:27671536|PMID:27708273|PMID:27818383|PMID:27854218|PMID:27884173|PMID:28300015|PMID:28403181|PMID:28492532|PMID:28602176|PMID:28881388|PMID:28914264|PMID:28915917|PMID:29797799|PMID:29970176|PMID:30028523|PMID:30056071|PMID:30107846|PMID:30564623|PMID:30838351|PMID:30919934|PMID:31028937|PMID:31066050|PMID:31069529|PMID:31127727|PMID:31263448|PMID:31517061|PMID:31555977|PMID:31589614|PMID:31788660|PMID:31862442|PMID:31931849|PMID:31937337|PMID:31980526|PMID:32140910|PMID:32342993|PMID:32403337|PMID:32528171|PMID:32557990|PMID:32576226|PMID:3258171|PMID:32646536|PMID:32668095|PMID:32896923|PMID:32994280|PMID:33107701|PMID:33250842|PMID:33335567|PMID:33337384|PMID:33448235|PMID:33931068|PMID:33963534|PMID:34008892|PMID:34323405|PMID:34355366|PMID:34426522|PMID:34440373|PMID:34602496|PMID:34697879|PMID:34720847|PMID:35135626|PMID:35157181|PMID:35169782|PMID:35239206|PMID:35309930|PMID:35734998|PMID:35741838|PMID:36575883|PMID:37273706|PMID:37377599|PMID:37526466|PMID:37712079|PMID:37974208|PMID:38361118|PMID:38374194|PMID:38812636|PMID:39825153|PMID:7318636|PMID:7720071|PMID:7762565|PMID:7795603|PMID:8624690|PMID:9150160|PMID:9246005|PMID:9266733|PMID:9452114|PMID:9536098|PMID:9642272|PMID:9655129|PMID:9762961|PMID:9771675|PMID:9777948 8717521 Capn3 calpain 3 gene DOID:9007114 Mobility Limitation ISO RGD:731876 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Difficulty walking PMID:10330340|PMID:10679950|PMID:14578192|PMID:14981715|PMID:15221789|PMID:15351423|PMID:15689361|PMID:15725583|PMID:16100770|PMID:16141003|PMID:16372320|PMID:16411092|PMID:16650086|PMID:17157502|PMID:17236769|PMID:17318636|PMID:17702496|PMID:17979987|PMID:17994539|PMID:18055493|PMID:18854869|PMID:20301490|PMID:20635405|PMID:21204801|PMID:21984748|PMID:24803842|PMID:25135358|PMID:25741868|PMID:26301378|PMID:26404900|PMID:26467025|PMID:26484845|PMID:26886200|PMID:27142102|PMID:27259757|PMID:27447704|PMID:27708273|PMID:27884173|PMID:28492532|PMID:28877744|PMID:28881388|PMID:28914264|PMID:30028523|PMID:30919934|PMID:31066050|PMID:31263448|PMID:31517061|PMID:31788660|PMID:33386810|PMID:34720847|PMID:34863162|PMID:35135626|PMID:35157181|PMID:35731190|PMID:36381256|PMID:37526466|PMID:37589857|PMID:7720071|PMID:9266733 8717521 Capn3 calpain 3 gene DOID:9256 colorectal cancer ISO RGD:731876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8717521 Capn3 calpain 3 gene DOID:9884 muscular dystrophy ISO RGD:731876 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:10330340|PMID:10679950|PMID:14578192|PMID:14981715|PMID:15221789|PMID:15351423|PMID:15689361|PMID:15725583|PMID:16100770|PMID:16141003|PMID:16372320|PMID:16411092|PMID:16650086|PMID:17157502|PMID:17318636|PMID:17702496|PMID:20301490|PMID:20635405|PMID:21204801|PMID:21984748|PMID:25135358|PMID:25741868|PMID:26404900|PMID:26467025|PMID:26484845|PMID:27142102|PMID:27259757|PMID:28492532|PMID:28881388|PMID:28914264|PMID:30028523|PMID:30919934|PMID:31066050|PMID:31263448|PMID:31517061|PMID:31788660|PMID:7720071|PMID:9266733 8717521 Capn3 calpain 3 gene DOID:9884 muscular dystrophy susceptibility ISO RGD:731876 D RGD:9068941 20200609 RGD Muscular Dystrophies, Limb-Girdle, type 2A, OMIM:114240;DNA:mutations PMID:9150160|REF_RGD_ID:1600769 8717564 Sirt7 sirtuin 7 gene DOID:418 systemic scleroderma ISO RGD:1314170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25707573 8717564 Sirt7 sirtuin 7 gene DOID:9004009 Reperfusion Injury ISO RGD:1314170 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:28675767 8717564 Sirt7 sirtuin 7 gene DOID:9452 steatotic liver disease ISO RGD:1314170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24210820 8717592 Slc30a6 solute carrier family 30 member 6 gene DOID:0090065 familial cold autoinflammatory syndrome 4 ISO RGD:1319489 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 PMID:28492532 8717592 Slc30a6 solute carrier family 30 member 6 gene DOID:0110792 hereditary spastic paraplegia 4 ISO RGD:1319489 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 PMID:25065914|PMID:25741868|PMID:28492532 8717592 Slc30a6 solute carrier family 30 member 6 gene DOID:10652 Alzheimer's disease ISO RGD:1319489 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16580781 8717592 Slc30a6 solute carrier family 30 member 6 gene DOID:607 paraplegia ISO RGD:1319489 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:32581362 8717592 Slc30a6 solute carrier family 30 member 6 gene DOID:9008410 Autoinflammation with Infantile Enterocolitis ISO RGD:1319489 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis PMID:28492532 8717611 Znf410 zinc finger protein 410 gene DOID:0110613 primary ciliary dyskinesia 16 ISO RGD:1313783 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 PMID:21496787|PMID:28492532 8717611 Znf410 zinc finger protein 410 gene DOID:1059 intellectual disability ISO RGD:1313783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 8717636 Syce1l synaptonemal complex central element protein 1 like gene DOID:0070168 spermatogenic failure 3 ISO RGD:2902459 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868|PMID:28492532|PMID:31479588 8717643 Ergic1 endoplasmic reticulum-golgi intermediate compartment 1 gene DOID:0080954 arthrogryposis multiplex congenita ISO RGD:1607015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita PMID:25741868|PMID:28317099|PMID:31230720 8717643 Ergic1 endoplasmic reticulum-golgi intermediate compartment 1 gene DOID:0090124 neurogenic-type arthrogryposis multiplex congenita-2 ISO RGD:1607015 D RGD:7240710 20200805 OMIM 8717643 Ergic1 endoplasmic reticulum-golgi intermediate compartment 1 gene DOID:0090124 neurogenic-type arthrogryposis multiplex congenita-2 ISO RGD:1607015 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 2, neurogenic type | ClinVar Annotator: match by term: ERGIC1-related condition PMID:25741868|PMID:28317099|PMID:5491443 8717643 Ergic1 endoplasmic reticulum-golgi intermediate compartment 1 gene DOID:0110112 atrial heart septal defect 7 ISO RGD:1607015 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome PMID:17891520|PMID:20456451|PMID:25205790|PMID:26014430|PMID:28492532 8717643 Ergic1 endoplasmic reticulum-golgi intermediate compartment 1 gene DOID:10908 hydrocephalus ISO RGD:1607015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital hydrocephalus PMID:29983323 8717643 Ergic1 endoplasmic reticulum-golgi intermediate compartment 1 gene DOID:9006836 Contracture ISO RGD:1607015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Contractures 8717643 Ergic1 endoplasmic reticulum-golgi intermediate compartment 1 gene DOID:9006886 Atrial Septal Defect with Atrioventricular Conduction Defects ISO RGD:1607015 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects PMID:17891520|PMID:20456451|PMID:25205790|PMID:26014430|PMID:28492532 8717665 Wbp11 WW domain binding protein 11 gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1317378 D RGD:8554872 20230829 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 PMID:28492532 8717665 Wbp11 WW domain binding protein 11 gene DOID:630 genetic disease ISO RGD:1317378 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8717665 Wbp11 WW domain binding protein 11 gene DOID:9008737 VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS ISO RGD:1317378 D RGD:7240710 20210421 OMIM 8717665 Wbp11 WW domain binding protein 11 gene DOID:9008737 VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS ISO RGD:1317378 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vertebral, cardiac, tracheoesophageal, renal, and limb defects | ClinVar Annotator: match by term: WBP11 spliceosomopathy PMID:25741868|PMID:33276377 8717689 Pld4 phospholipase D family member 4 gene DOID:0061101 immunodeficiency 132A ISO RGD:1347934 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 PMID:28492532 8717689 Pld4 phospholipase D family member 4 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1347934 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 8717689 Pld4 phospholipase D family member 4 gene DOID:0111130 focal segmental glomerulosclerosis 5 ISO RGD:1347934 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 PMID:28492532 8717689 Pld4 phospholipase D family member 4 gene DOID:13276 Mycoplasma pneumoniae pneumonia severity ISO RGD:1347934 D RGD:9068941 20200626 RGD PMID:28302172|REF_RGD_ID:32716376 8717689 Pld4 phospholipase D family member 4 gene DOID:7148 rheumatoid arthritis ISO RGD:1347934 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22446963 8717689 Pld4 phospholipase D family member 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347934 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8717689 Pld4 phospholipase D family member 4 gene DOID:9074 systemic lupus erythematosus ISO RGD:1557943 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 8717722 Calhm2 calcium homeostasis modulator family member 2 gene DOID:3873 desmoplastic/nodular medulloblastoma ISO RGD:1317957 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma PMID:12068298 8717729 Rnf25 ring finger protein 25 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1323079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 8717729 Rnf25 ring finger protein 25 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1323079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 8717729 Rnf25 ring finger protein 25 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1323079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 8717729 Rnf25 ring finger protein 25 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1323079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 8717729 Rnf25 ring finger protein 25 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8717769 Tomm40l translocase of outer mitochondrial membrane 40 like gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1604579 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 8717769 Tomm40l translocase of outer mitochondrial membrane 40 like gene DOID:1540 parathyroid carcinoma ISO RGD:1604579 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8717769 Tomm40l translocase of outer mitochondrial membrane 40 like gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604579 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8717792 Dipk2a divergent protein kinase domain 2A gene DOID:0060041 autism spectrum disorder ISO RGD:1603352 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21283809 8717792 Dipk2a divergent protein kinase domain 2A gene DOID:12849 autistic disorder ISO RGD:1603352 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18621663 8717792 Dipk2a divergent protein kinase domain 2A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1603352 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8717799 Spc24 SPC24 component of NDC80 kinetochore complex gene DOID:0050990 episodic ataxia type 2 ISO RGD:1604521 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 8717799 Spc24 SPC24 component of NDC80 kinetochore complex gene DOID:0060997 rhabdoid tumor predisposition syndrome 2 ISO RGD:1604521 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 2 PMID:28492532 8717799 Spc24 SPC24 component of NDC80 kinetochore complex gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1604521 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 8717799 Spc24 SPC24 component of NDC80 kinetochore complex gene DOID:0111254 glutaric acidemia I ISO RGD:1604521 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 8717799 Spc24 SPC24 component of NDC80 kinetochore complex gene DOID:3413 alpha-mannosidosis ISO RGD:1604521 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 8717825 Mix23 mitochondrial matrix import factor 23 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1604240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 8717825 Mix23 mitochondrial matrix import factor 23 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1604240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 8717825 Mix23 mitochondrial matrix import factor 23 gene DOID:9270 alkaptonuria ISO RGD:1604240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 8717850 Fgl2 fibrinogen like 2 gene DOID:0040094 autoimmune glomerulonephritis ISO RGD:732675 D RGD:9068941 20220825 MouseDO 8717850 Fgl2 fibrinogen like 2 gene DOID:0080600 COVID-19 ISO RGD:1347654 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 8717850 Fgl2 fibrinogen like 2 gene DOID:3042 allergic contact dermatitis ISO RGD:1347654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17374397 8717850 Fgl2 fibrinogen like 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1347654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8717850 Fgl2 fibrinogen like 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8717850 Fgl2 fibrinogen like 2 gene DOID:9002311 Experimental Autoimmune Myocarditis severity ISO RGD:620170 D RGD:9068941 20200903 RGD PMID:28892130|REF_RGD_ID:38549573 8717850 Fgl2 fibrinogen like 2 gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:1347654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 8717855 Npw neuropeptide W gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1605830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:10205261|PMID:16114042|PMID:17287951|PMID:17304050|PMID:20498439|PMID:25741868|PMID:28492532|PMID:29932062 8717855 Npw neuropeptide W gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1605830 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:28492532|PMID:30866059 8717855 Npw neuropeptide W gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1605830 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8717855 Npw neuropeptide W gene DOID:1826 epilepsy ISO RGD:1605830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8717855 Npw neuropeptide W gene DOID:9009315 Idiopathic Generalized Epilepsy ISO RGD:1605830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8717873 Nfil3 nuclear factor, interleukin 3 regulated gene DOID:0050589 inflammatory bowel disease ISO RGD:732632 D RGD:9068941 20220825 MouseDO 8717873 Nfil3 nuclear factor, interleukin 3 regulated gene DOID:0050628 advanced sleep phase syndrome ISO RGD:1345604 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25395965 8717873 Nfil3 nuclear factor, interleukin 3 regulated gene DOID:0110002 3-methylglutaconic aciduria type 1 ISO RGD:1345604 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 1 PMID:28492532 8717873 Nfil3 nuclear factor, interleukin 3 regulated gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:1345604 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (human) PMID:19635508|REF_RGD_ID:5490168 8717879 Mcee methylmalonyl-CoA epimerase gene DOID:0060019 coronin-1A deficiency ISO RGD:1320595 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:17823972|PMID:25073507|PMID:28492532 8717879 Mcee methylmalonyl-CoA epimerase gene DOID:14749 methylmalonic acidemia ISO RGD:1320595 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Isolated Methylmalonic Acidemia | ClinVar Annotator: match by term: Methylmalonic acidemia PMID:16697227|PMID:16752391|PMID:17823972|PMID:25741868|PMID:25763508|PMID:25954003|PMID:27618451|PMID:27699154|PMID:28490743|PMID:28492532|PMID:29104221|PMID:30682498|PMID:31146325 8717879 Mcee methylmalonyl-CoA epimerase gene DOID:543 dystonia ISO RGD:1320595 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8717879 Mcee methylmalonyl-CoA epimerase gene DOID:630 genetic disease ISO RGD:1320595 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16697227|PMID:16752391|PMID:17823972|PMID:25741868|PMID:25763508|PMID:25954003|PMID:27618451|PMID:27699154|PMID:28490743|PMID:28492532|PMID:29104221|PMID:30682498|PMID:31146325 8717879 Mcee methylmalonyl-CoA epimerase gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1320595 D RGD:7240710 20180130 OMIM 8717879 Mcee methylmalonyl-CoA epimerase gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1320595 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16199547|PMID:16697227|PMID:16752391|PMID:17823972|PMID:19763152|PMID:20307669|PMID:22406018|PMID:22522443|PMID:23542699|PMID:24033266|PMID:25640679|PMID:25741868|PMID:25763508|PMID:25954003|PMID:27618451|PMID:27699154|PMID:28490743|PMID:28492532|PMID:29104221|PMID:30682498|PMID:31146325 8717900 Ccdc69 coiled-coil domain containing 69 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1603313 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8717900 Ccdc69 coiled-coil domain containing 69 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603313 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8717913 Tecr trans-2,3-enoyl-CoA reductase gene DOID:0081188 autosomal recessive intellectual developmental disorder 14 ISO RGD:733590 D RGD:7240710 20180130 OMIM 8717913 Tecr trans-2,3-enoyl-CoA reductase gene DOID:0081188 autosomal recessive intellectual developmental disorder 14 ISO RGD:733590 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 14 | ClinVar Annotator: match by term: TECR-related condition PMID:11590547|PMID:21212097|PMID:22981120|PMID:24220030|PMID:25741868 8717930 Mib2 MIB E3 ubiquitin protein ligase 2 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1349487 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8717930 Mib2 MIB E3 ubiquitin protein ligase 2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1349487 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 8717930 Mib2 MIB E3 ubiquitin protein ligase 2 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1349487 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:23892090|PMID:28492532|PMID:31602316 8717930 Mib2 MIB E3 ubiquitin protein ligase 2 gene DOID:0080600 COVID-19 ISO RGD:1349487 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8717930 Mib2 MIB E3 ubiquitin protein ligase 2 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1349487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 8717930 Mib2 MIB E3 ubiquitin protein ligase 2 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1349487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 8717930 Mib2 MIB E3 ubiquitin protein ligase 2 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1349487 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8717930 Mib2 MIB E3 ubiquitin protein ligase 2 gene DOID:0111934 immunodeficiency 38 ISO RGD:1349487 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8717930 Mib2 MIB E3 ubiquitin protein ligase 2 gene DOID:0111935 immunodeficiency 16 ISO RGD:1349487 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8717930 Mib2 MIB E3 ubiquitin protein ligase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8717930 Mib2 MIB E3 ubiquitin protein ligase 2 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1349487 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:23892090|PMID:28492532|PMID:31602316 8717930 Mib2 MIB E3 ubiquitin protein ligase 2 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1349487 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8717930 Mib2 MIB E3 ubiquitin protein ligase 2 gene DOID:9009315 Idiopathic Generalized Epilepsy ISO RGD:1349487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8717966 Ppif peptidylprolyl isomerase F gene DOID:0080600 COVID-19 ISO RGD:1354243 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 8717966 Ppif peptidylprolyl isomerase F gene DOID:5295 intestinal disease ISO RGD:1354243 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20668000 8717966 Ppif peptidylprolyl isomerase F gene DOID:9005175 Ulcer ISO RGD:1354243 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20668000 8717976 Mpv17l2 MPV17 mitochondrial inner membrane protein like 2 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1603190 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 8717985 Dohh deoxyhypusine hydroxylase gene DOID:0080690 RASopathy ISO RGD:1606491 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: RASopathy PMID:23379592|PMID:27257017|PMID:27751966|PMID:28492532 8717985 Dohh deoxyhypusine hydroxylase gene DOID:6432 pulmonary hypertension ISO RGD:1304783 D RGD:9068941 20250206 RGD protein:increased expression:pulmonary artery,right ventricle PMID:38261723|REF_RGD_ID:597621636 8717985 Dohh deoxyhypusine hydroxylase gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1606491 D RGD:9068941 20250206 RGD protein:increased expression:pulmonary arterial smooth muscle, pulmonary artery, right ventricle: PMID:38261723|REF_RGD_ID:597621636 8717985 Dohh deoxyhypusine hydroxylase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8717985 Dohh deoxyhypusine hydroxylase gene DOID:9004467 Neurodevelopmental Disorder with Microcephaly, Cerebral Atrophy, and Visual Impairment ISO RGD:1606491 D RGD:7240710 20221123 OMIM 8717985 Dohh deoxyhypusine hydroxylase gene DOID:9004467 Neurodevelopmental Disorder with Microcephaly, Cerebral Atrophy, and Visual Impairment ISO RGD:1606491 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment PMID:25741868|PMID:35858628 8717993 Rtl1 retrotransposon Gag like 1 gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:1602404 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 8717997 Flnb filamin B gene DOID:0050680 Boomerang dysplasia ISO RGD:1323621 D RGD:7240710 20180130 OMIM 8717997 Flnb filamin B gene DOID:0050680 Boomerang dysplasia ISO RGD:1323621 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Boomerang dysplasia | ClinVar Annotator: match by term: Boomerang-like skeletal dysplasia PMID:12955767|PMID:14991055|PMID:17510210|PMID:25741868|PMID:28492532 8717997 Flnb filamin B gene DOID:0060564 spinal disease ISO RGD:1323621 D RGD:9068941 20200609 RGD spondylocarpotarsal syndrome,OMIM:272460;DNA:frameshift:6408delC,DNA:point mutation:exons:R818X,R1607X PMID:14991055|REF_RGD_ID:1601168 8717997 Flnb filamin B gene DOID:0080006 bone development disease ISO RGD:1323621 D RGD:9068941 20200609 RGD Larsen syndrome,OMIM:150250;DNA:point mutation:exon:F161C PMID:14991055|REF_RGD_ID:1601168 8717997 Flnb filamin B gene DOID:0080006 bone development disease ISO RGD:1323621 D RGD:9068941 20200609 RGD boomerang dysplasia, OMIM:112310;DNA:point mutation:exon:L171R,S235P PMID:15994868|REF_RGD_ID:1601170 8717997 Flnb filamin B gene DOID:0080096 myofibrillar myopathy 5 ISO RGD:1323621 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: FLNB-Related Disorders | ClinVar Annotator: match by term: Myofibrillar myopathy 5 PMID:14991055|PMID:16648377|PMID:16752402|PMID:16801345|PMID:17576681|PMID:19085972|PMID:20301736|PMID:21620354|PMID:22190451|PMID:25741868|PMID:26491051|PMID:28492532|PMID:30712878|PMID:34491919|PMID:9536098 8717997 Flnb filamin B gene DOID:0090116 spondylocarpotarsal synostosis syndrome ISO RGD:1323621 D RGD:7240710 20180130 OMIM 8717997 Flnb filamin B gene DOID:0090116 spondylocarpotarsal synostosis syndrome ISO RGD:1323621 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Scoliosis, congenital with unilateral unsegmented bar | ClinVar Annotator: match by term: Spondylocarpotarsal synostosis syndrome PMID:14991055|PMID:17576681|PMID:18257094|PMID:18322662|PMID:18386804|PMID:20301736|PMID:22190451|PMID:25741868|PMID:26380986|PMID:28492532|PMID:29566257|PMID:31836586|PMID:33407338|PMID:9536098 8717997 Flnb filamin B gene DOID:11836 clubfoot ISO RGD:1323621 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:c.4717G>T (p.D1573Y), c.1897A>G(p.M633V,c.2195A>G (p.Y732C)(human) PMID:27395407|REF_RGD_ID:12791025 8717997 Flnb filamin B gene DOID:14764 Larsen syndrome ISO RGD:1323621 D RGD:7240710 20180130 OMIM 8717997 Flnb filamin B gene DOID:14764 Larsen syndrome ISO RGD:1323621 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: FLNB-Related Spectrum Disorders | ClinVar Annotator: match by term: Larsen syndrome | ClinVar Annotator: match by term: Larsen syndrome, dominant type PMID:14991055|PMID:16648377|PMID:16752402|PMID:16801345|PMID:17576681|PMID:18322662|PMID:19085972|PMID:20301736|PMID:21620354|PMID:22190451|PMID:24123776|PMID:25741868|PMID:26380986|PMID:26491051|PMID:27048506|PMID:28229453|PMID:28492532|PMID:29566257|PMID:30544257|PMID:30712878|PMID:31836586|PMID:9536098 8717997 Flnb filamin B gene DOID:2256 osteochondrodysplasia ISO RGD:1323621 D RGD:9068941 20200609 RGD DNA:missense, deletion mutations:exons: PMID:16752402|REF_RGD_ID:12791027 8717997 Flnb filamin B gene DOID:2256 osteochondrodysplasia ISO RGD:1323621 D RGD:9068941 20200609 RGD atelosteogenesis type I,OMIM:108720;DNA:point mutation:exon:A173V PMID:14991055|REF_RGD_ID:1601168 8717997 Flnb filamin B gene DOID:630 genetic disease ISO RGD:1323621 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14991055|PMID:16199547|PMID:16752402|PMID:16801345|PMID:17576681|PMID:19085972|PMID:20301736|PMID:22190451|PMID:25741868|PMID:26491051|PMID:28492532|PMID:30712878|PMID:34491919|PMID:9536098 8717997 Flnb filamin B gene DOID:65 connective tissue disease ISO RGD:1323621 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:14991055|PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 8717997 Flnb filamin B gene DOID:65 connective tissue disease ISO RGD:1323621 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:14991055|PMID:17576681|PMID:20301736|PMID:25741868|PMID:28492532|PMID:9536098 8717997 Flnb filamin B gene DOID:674 cleft palate susceptibility ISO RGD:1323621 D RGD:9068941 20200609 RGD DNA:SNPs:: PMID:20634891|REF_RGD_ID:12791026 8717997 Flnb filamin B gene DOID:9001383 Atelosteogenesis Type 1 ISO RGD:1323621 D RGD:7240710 20180130 OMIM 8717997 Flnb filamin B gene DOID:9001383 Atelosteogenesis Type 1 ISO RGD:1323621 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Atelosteogenesis type I | ClinVar Annotator: match by term: Spondylohumerofemoral hypoplasia PMID:14991055|PMID:16752402|PMID:20301736|PMID:22190451|PMID:24624349|PMID:25741868|PMID:28492532 8717997 Flnb filamin B gene DOID:9004353 Larsen Syndromes ISO RGD:1323621 D RGD:9068941 20200609 RGD DNA:deletion, missense mutations:cds: PMID:16801345|REF_RGD_ID:12791029 8717997 Flnb filamin B gene DOID:9004436 Atelosteogenesis Type 3 ISO RGD:1323621 D RGD:7240710 20180130 OMIM 8717997 Flnb filamin B gene DOID:9004436 Atelosteogenesis Type 3 ISO RGD:1323621 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Atelosteogenesis type 3 | ClinVar Annotator: match by term: Atelosteogenesis type III PMID:14991055|PMID:16648377|PMID:16752402|PMID:16801345|PMID:17576681|PMID:20301736|PMID:22190451|PMID:25741868|PMID:27048506|PMID:27395407|PMID:28492532|PMID:30544257|PMID:36653407|PMID:9536098 8717997 Flnb filamin B gene DOID:9004857 Pyruvate Dehydrogenase E1-Beta Deficiency ISO RGD:1323621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency PMID:28492532 8717997 Flnb filamin B gene DOID:9004979 Knee Dislocation ISO RGD:1323621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Knee dislocation PMID:25741868|PMID:28492532|PMID:31836586 8717997 Flnb filamin B gene DOID:9007661 Dwarfism ISO RGD:1323621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 8718050 Awat1 acyl-CoA wax alcohol acyltransferase 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8718050 Awat1 acyl-CoA wax alcohol acyltransferase 1 gene DOID:0111823 autosomal hemophilia A ISO RGD:1346796 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A PMID:31690835 8718050 Awat1 acyl-CoA wax alcohol acyltransferase 1 gene DOID:12134 factor VIII deficiency ISO RGD:1346796 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Factor 8 deficiency, congenital PMID:31690835 8718050 Awat1 acyl-CoA wax alcohol acyltransferase 1 gene DOID:12849 autistic disorder ISO RGD:1346796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8718067 Nyap1 neuronal tyrosine phosphorylated phosphoinositide-3-kinase adaptor 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1602420 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8718085 Ubl5 ubiquitin like 5 gene DOID:12849 autistic disorder ISO RGD:1351956 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8718094 Slc4a11 solute carrier family 4 member 11 gene DOID:0060649 congenital hereditary endothelial dystrophy of cornea ISO RGD:1320941 D RGD:7240710 20180130 OMIM 8718094 Slc4a11 solute carrier family 4 member 11 gene DOID:0060649 congenital hereditary endothelial dystrophy of cornea ISO RGD:1320941 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Congenital hereditary endothelial dystrophy of cornea | ClinVar Annotator: match by term: Congenital hereditary endothelial dystrophy of the cornea PMID:16199547|PMID:16767101|PMID:16825429|PMID:17220209|PMID:17397048|PMID:17576681|PMID:17679935|PMID:18024964|PMID:18474783|PMID:19369245|PMID:21203343|PMID:22072594|PMID:23615275|PMID:23922488|PMID:24033266|PMID:24916015|PMID:25500497|PMID:25741868|PMID:25741869|PMID:25811729|PMID:26619383|PMID:28492532|PMID:29327391|PMID:31323090|PMID:31691803|PMID:31714402|PMID:33541055|PMID:34637099|PMID:35985662|PMID:36115991|PMID:9536098 8718094 Slc4a11 solute carrier family 4 member 11 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1320941 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 8718094 Slc4a11 solute carrier family 4 member 11 gene DOID:0110855 posterior polymorphous corneal dystrophy 1 ISO RGD:1320941 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Corneal endothelial dystrophy 1, autosomal dominant | ClinVar Annotator: match by term: Maumenee corneal dystrophy PMID:17220209|PMID:17679935|PMID:19369245|PMID:25182519|PMID:25500497|PMID:25741868|PMID:28492532 8718094 Slc4a11 solute carrier family 4 member 11 gene DOID:0111620 corneal dystrophy-perceptive deafness syndrome ISO RGD:1320941 D RGD:7240710 20180130 OMIM 8718094 Slc4a11 solute carrier family 4 member 11 gene DOID:0111620 corneal dystrophy-perceptive deafness syndrome ISO RGD:1320941 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Corneal dystrophy and sensorineural deafness | ClinVar Annotator: match by term: Corneal dystrophy-perceptive deafness syndrome PMID:16199547|PMID:16767101|PMID:16825429|PMID:17220209|PMID:17397048|PMID:17576681|PMID:17679935|PMID:18024964|PMID:18363173|PMID:18474783|PMID:19337156|PMID:19369245|PMID:20144242|PMID:20848555|PMID:21203343|PMID:22072594|PMID:23615275|PMID:23922488|PMID:24033266|PMID:24348007|PMID:24916015|PMID:25007886|PMID:25182519|PMID:25500497|PMID:25741868|PMID:25811729|PMID:26467025|PMID:26619383|PMID:27057589|PMID:27925686|PMID:28263186|PMID:28492532|PMID:28973083|PMID:29327391|PMID:30140924|PMID:31323090|PMID:31420327|PMID:31691803|PMID:31714402|PMID:32520610|PMID:33816482|PMID:34637099|PMID:35985662|PMID:36037197|PMID:36115991|PMID:38252645|PMID:9536098 8718094 Slc4a11 solute carrier family 4 member 11 gene DOID:2566 corneal dystrophy ISO RGD:1320941 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Corneal Dystrophy, Recessive | ClinVar Annotator: match by term: Corneal dystrophy PMID:18024964|PMID:18363173|PMID:20144242|PMID:20848555|PMID:23585771|PMID:23922488|PMID:24348007|PMID:25182519|PMID:25741868|PMID:26467025|PMID:28263186|PMID:28492532|PMID:28973083|PMID:29327391|PMID:31263352|PMID:31691803|PMID:33816482|PMID:34130750|PMID:38252645 8718094 Slc4a11 solute carrier family 4 member 11 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1320941 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 8718094 Slc4a11 solute carrier family 4 member 11 gene DOID:630 genetic disease ISO RGD:1320941 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 8718094 Slc4a11 solute carrier family 4 member 11 gene DOID:9004127 Corneal Dystrophy, Fuchs Endothelial, 4 ISO RGD:1320941 D RGD:7240710 20180130 OMIM 8718094 Slc4a11 solute carrier family 4 member 11 gene DOID:9004127 Corneal Dystrophy, Fuchs Endothelial, 4 ISO RGD:1320941 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Corneal dystrophy, Fuchs endothelial, 4 PMID:16767101|PMID:17220209|PMID:17679935|PMID:18024964|PMID:19369245|PMID:22072594|PMID:25007886|PMID:25500497|PMID:25741868|PMID:28492532|PMID:29327391 8718094 Slc4a11 solute carrier family 4 member 11 gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:1320941 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Inosine triphosphatase deficiency PMID:26224535|PMID:28492532|PMID:34989426 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735910 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:0080745 polymyositis ISO RGD:735910 D RGD:9068941 20200609 RGD protein:expression:serum PMID:22394569|REF_RGD_ID:9491763 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:0080855 Parkinsonism ISO RGD:620458 D RGD:9068941 20200609 RGD PMID:19368990|REF_RGD_ID:4891964 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:735910 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:10223 dermatomyositis ISO RGD:735910 D RGD:9068941 20200609 RGD protein:expression:serum PMID:22394569|REF_RGD_ID:9491763 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:10457 Legionnaires' disease ISO RGD:731691 D RGD:9068941 20200609 RGD PMID:16113250|REF_RGD_ID:4891897 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:10459 common cold ISO RGD:735910 D RGD:9068941 20200609 RGD PMID:20696083|REF_RGD_ID:4140458 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:10762 portal hypertension ISO RGD:620458 D RGD:9068941 20200609 RGD PMID:21347560|REF_RGD_ID:9491791 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:1205 allergic disease ISO RGD:735910 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:13141 uveitis ISO RGD:620458 D RGD:9068941 20200609 RGD associated with Endotoxemia;mRNA, protein:increased expression:retina PMID:19648777|REF_RGD_ID:4891945 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:1679 cystitis ISO RGD:620458 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder urothelium PMID:16651033|REF_RGD_ID:4891972 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:1824 status epilepticus treatment ISO RGD:620458 D RGD:9068941 20200609 RGD PMID:21481949|REF_RGD_ID:9491789 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:735910 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:224 transient cerebral ischemia ISO RGD:620458 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:24447880|REF_RGD_ID:9491776 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:2527 nephrosis ISO RGD:620458 D RGD:9068941 20200609 RGD PMID:19590241|REF_RGD_ID:4891946 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:2841 asthma ISO RGD:735910 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:14657873|REF_RGD_ID:4891906 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:2913 acute pancreatitis treatment ISO RGD:620458 D RGD:9068941 20200609 RGD PMID:22213034|REF_RGD_ID:9491790 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:2921 glomerulonephritis ISO RGD:620458 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:glomerulus, urine PMID:14605272|REF_RGD_ID:4891995 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:326 ischemia ISO RGD:620458 D RGD:9068941 20200609 RGD PMID:18006432|REF_RGD_ID:4892022 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:3310 atopic dermatitis ISO RGD:735910 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15131578|REF_RGD_ID:9491761 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:418 systemic scleroderma ISO RGD:735910 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15608300|REF_RGD_ID:4891898 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:4483 rhinitis ISO RGD:735910 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:14657873|REF_RGD_ID:4891906 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:620458 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:glomerulus PMID:19590241|REF_RGD_ID:4891946 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:5154 borna disease ISO RGD:620458 D RGD:9068941 20200609 RGD PMID:12053272|REF_RGD_ID:4891998 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:552 pneumonia ISO RGD:735910 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:6432 pulmonary hypertension ISO RGD:620458 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:18630689|REF_RGD_ID:4891889 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:6432 pulmonary hypertension ISO RGD:735910 D RGD:9068941 20200609 RGD associated with Heart Defects, Congenital PMID:20869263|REF_RGD_ID:4891883 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:6432 pulmonary hypertension ISO RGD:735910 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:19948918|REF_RGD_ID:4891887 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:649 prion disease ISO RGD:620458 D RGD:9068941 20200609 RGD protein:increased expression:astrocyte PMID:11870871|REF_RGD_ID:4892001 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:7148 rheumatoid arthritis ISO RGD:735910 D RGD:9068941 20200609 RGD PMID:11465708|REF_RGD_ID:4892002 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:820 myocarditis ISO RGD:620458 D RGD:9068941 20200609 RGD mRNA:increased expression:cardiac muscle cell PMID:16018993|REF_RGD_ID:4891990 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:850 lung disease ISO RGD:620458 D RGD:9068941 20200609 RGD Acute Lung Injury associated with Endotoxemia;mRNA:increased expression:lung PMID:17302066|REF_RGD_ID:4891892 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:8515 Cor pulmonale ISO RGD:735910 D RGD:9068941 20200609 RGD PMID:20669672|REF_RGD_ID:4143386 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:8544 chronic fatigue syndrome ISO RGD:735910 D RGD:9068941 20200609 RGD protein:decreased expression:plasma: PMID:26615570|REF_RGD_ID:11538286 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:900 hepatopulmonary syndrome ISO RGD:620458 D RGD:9068941 20200609 RGD protein:increased expression:lung, plasma PMID:22659346|REF_RGD_ID:9491778 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:9000598 Cranial Nerve Injuries ISO RGD:620458 D RGD:9068941 20200609 RGD PMID:15153618|REF_RGD_ID:4891994 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:9002211 Hyperalgesia ISO RGD:620458 D RGD:9068941 20200609 RGD PMID:19249394|REF_RGD_ID:2304251 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:9002211 Hyperalgesia treatment ISO RGD:620458 D RGD:9068941 20200609 RGD associated with Arthritis, Experimental PMID:22647647|REF_RGD_ID:9491779 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735910 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:9002457 Experimental Arthritis ISO RGD:620458 D RGD:9068941 20200609 RGD PMID:11465708|REF_RGD_ID:4892002 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:9002699 Periapical Diseases ISO RGD:620458 D RGD:9068941 20200609 RGD PMID:23829599|REF_RGD_ID:9491793 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:620458 D RGD:9068941 20200609 RGD PMID:16053521|REF_RGD_ID:4891973 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:9004009 Reperfusion Injury ISO RGD:620458 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:19563789|REF_RGD_ID:4891956 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:9004538 Hearing Loss ISO RGD:731691 D RGD:9068941 20200609 RGD mRNA, protein:altered expression:cochlea PMID:24781382|REF_RGD_ID:9491762 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:9005070 Microscopic Polyangiitis severity ISO RGD:735910 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19327232|REF_RGD_ID:9491765 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620458 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:15153757|REF_RGD_ID:4891992 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:735910 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20388520 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:9005647 Experimental Autoimmune Uveitis ISO RGD:620458 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:iris, ciliary body, aqueous humor PMID:16030495|REF_RGD_ID:9479740 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:9005665 Chronic Mesangial Proliferative Glomerulonephritis ISO RGD:620458 D RGD:9068941 20200609 RGD PMID:12028445|REF_RGD_ID:9491783 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:9005930 Endotoxemia ISO RGD:620458 D RGD:9068941 20200609 RGD protein:increased expression:atrium endocardium PMID:19282612|REF_RGD_ID:4891965 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:9006086 Intervertebral Disc Displacement ISO RGD:620458 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:spinal cord PMID:21224760|REF_RGD_ID:4891907 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:620458 D RGD:9068941 20200609 RGD PMID:18448252|REF_RGD_ID:4891968 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:735910 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:9007244 Paramyxoviridae Infections ISO RGD:731691 D RGD:9068941 20200609 RGD PMID:20053825|REF_RGD_ID:4891886 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:9008870 Chromosome 16q12 Duplication Syndrome ISO RGD:735910 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome PMID:25741868 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:9477 pulmonary embolism treatment ISO RGD:620458 D RGD:9068941 20200609 RGD PMID:23578461|REF_RGD_ID:9491777 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:9675 pulmonary emphysema ISO RGD:731691 D RGD:9068941 20200609 RGD PMID:18772344|REF_RGD_ID:4891888 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:9810 polyarteritis nodosa ISO RGD:735910 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:23470165|REF_RGD_ID:9068463 8718147 Ak3 adenylate kinase 3 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:737588 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 8718147 Ak3 adenylate kinase 3 gene DOID:1040 chronic lymphocytic leukemia ISO RGD:737588 D RGD:9068941 20200609 RGD protein:increased expression:peripheral blood mononuclear cell PMID:27078856|REF_RGD_ID:13842476 8718147 Ak3 adenylate kinase 3 gene DOID:684 hepatocellular carcinoma ISO RGD:737588 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:17203974|REF_RGD_ID:13842477 8718196 Nck2 NCK adaptor protein 2 gene DOID:10652 Alzheimer's disease ISO RGD:1314306 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:33589840 8718196 Nck2 NCK adaptor protein 2 gene DOID:1184 nephrotic syndrome ISO RGD:1314306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19443634 8718196 Nck2 NCK adaptor protein 2 gene DOID:576 proteinuria ISO RGD:1314306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19443634 8718196 Nck2 NCK adaptor protein 2 gene DOID:9001542 Albuminuria ISO RGD:1314306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19443634 8718208 Cd55 CD55 molecule (Cromer blood group) gene DOID:0050589 inflammatory bowel disease ISO RGD:737499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease PMID:28492532 8718208 Cd55 CD55 molecule (Cromer blood group) gene DOID:0081150 common variable immunodeficiency 7 ISO RGD:737499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 PMID:28492532 8718208 Cd55 CD55 molecule (Cromer blood group) gene DOID:10283 prostate cancer ISO RGD:737499 D RGD:9068941 20200609 RGD PMID:16533428|PMID:18288643|REF_RGD_ID:2326167|REF_RGD_ID:2326168 8718208 Cd55 CD55 molecule (Cromer blood group) gene DOID:10611 protein-losing enteropathy ISO RGD:737499 D RGD:7240710 20190315 OMIM 8718208 Cd55 CD55 molecule (Cromer blood group) gene DOID:10611 protein-losing enteropathy ISO RGD:737499 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: CD55-related condition | ClinVar Annotator: match by term: Protein-losing enteropathy PMID:15954803|PMID:16199547|PMID:1710232|PMID:1720702|PMID:17576681|PMID:25741868|PMID:28492532|PMID:28657829|PMID:28657861|PMID:6695433|PMID:9536098|PMID:9675792 8718208 Cd55 CD55 molecule (Cromer blood group) gene DOID:12849 autistic disorder ISO RGD:737499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8718208 Cd55 CD55 molecule (Cromer blood group) gene DOID:1540 parathyroid carcinoma ISO RGD:737499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8718208 Cd55 CD55 molecule (Cromer blood group) gene DOID:1612 breast cancer disease_progression ISO RGD:737499 D RGD:9068941 20200609 RGD PMID:15102687|PMID:18676748|REF_RGD_ID:2326166|REF_RGD_ID:2326170 8718208 Cd55 CD55 molecule (Cromer blood group) gene DOID:2870 endometrial adenocarcinoma ISO RGD:737499 D RGD:9068941 20200609 RGD PMID:11506079|REF_RGD_ID:2326173 8718208 Cd55 CD55 molecule (Cromer blood group) gene DOID:289 endometriosis ISO RGD:737499 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 8718208 Cd55 CD55 molecule (Cromer blood group) gene DOID:4362 cervical cancer ISO RGD:737499 D RGD:9068941 20200609 RGD PMID:9358772|REF_RGD_ID:2293549 8718208 Cd55 CD55 molecule (Cromer blood group) gene DOID:576 proteinuria ISO RGD:620651 D RGD:9068941 20200609 RGD PMID:12427125|REF_RGD_ID:2326179 8718208 Cd55 CD55 molecule (Cromer blood group) gene DOID:630 genetic disease ISO RGD:737499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8718208 Cd55 CD55 molecule (Cromer blood group) gene DOID:670 amphetamine abuse ISO RGD:737499 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 8718208 Cd55 CD55 molecule (Cromer blood group) gene DOID:769 neuroblastoma ISO RGD:620651 D RGD:9068941 20200609 RGD PMID:10850450|REF_RGD_ID:2326181 8718208 Cd55 CD55 molecule (Cromer blood group) gene DOID:9000469 Viral Myocarditis treatment ISO RGD:737499 D RGD:9068941 20200609 RGD PMID:12533688|REF_RGD_ID:13702890 8718208 Cd55 CD55 molecule (Cromer blood group) gene DOID:9004009 Reperfusion Injury ISO RGD:620651 D RGD:9068941 20200609 RGD PMID:20403613|REF_RGD_ID:2326175 8718208 Cd55 CD55 molecule (Cromer blood group) gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:737499 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8718208 Cd55 CD55 molecule (Cromer blood group) gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8718235 Pa2g4 proliferation-associated 2G4 gene DOID:9000217 Stomach Neoplasms ISO RGD:1354307 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8718235 Pa2g4 proliferation-associated 2G4 gene DOID:9000918 Disease Progression ISO RGD:1354307 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8718252 Arhgef9 Cdc42 guanine nucleotide exchange factor 9 gene DOID:0060041 autism spectrum disorder ISO RGD:1348513 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25678704|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28589176|PMID:29130122|PMID:31780880|PMID:35217970 8718252 Arhgef9 Cdc42 guanine nucleotide exchange factor 9 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348513 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8718252 Arhgef9 Cdc42 guanine nucleotide exchange factor 9 gene DOID:0060886 osteopathia striata with cranial sclerosis ISO RGD:1348513 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Osteopathia striata with cranial sclerosis PMID:19079258|PMID:20209645|PMID:25741868|PMID:9383023 8718252 Arhgef9 Cdc42 guanine nucleotide exchange factor 9 gene DOID:0080215 developmental and epileptic encephalopathy 8 ISO RGD:1348513 D RGD:7240710 20180130 OMIM 8718252 Arhgef9 Cdc42 guanine nucleotide exchange factor 9 gene DOID:0080215 developmental and epileptic encephalopathy 8 ISO RGD:1348513 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: ARHGEF9-related condition | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 8 PMID:15215304|PMID:16199547|PMID:16616186|PMID:17576681|PMID:17893116|PMID:18414213|PMID:18615734|PMID:21633362|PMID:21731583|PMID:22612257|PMID:23033978|PMID:25568878|PMID:25678704|PMID:25741868|PMID:26467025|PMID:26834553|PMID:27238888|PMID:28492532|PMID:28589176|PMID:28620718|PMID:28708303|PMID:29130122|PMID:30914922|PMID:31054490|PMID:31069529|PMID:31440721|PMID:31780880|PMID:32005694|PMID:32593896|PMID:32860008|PMID:32939676|PMID:33504798|PMID:33860439|PMID:35217970|PMID:35638461|PMID:37541188|PMID:9536098 8718252 Arhgef9 Cdc42 guanine nucleotide exchange factor 9 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1348513 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:28492532|PMID:35638461 8718252 Arhgef9 Cdc42 guanine nucleotide exchange factor 9 gene DOID:0111823 autosomal hemophilia A ISO RGD:1348513 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A PMID:31690835 8718252 Arhgef9 Cdc42 guanine nucleotide exchange factor 9 gene DOID:1059 intellectual disability ISO RGD:1348513 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 8718252 Arhgef9 Cdc42 guanine nucleotide exchange factor 9 gene DOID:12134 factor VIII deficiency ISO RGD:1348513 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Factor 8 deficiency, congenital PMID:31690835 8718252 Arhgef9 Cdc42 guanine nucleotide exchange factor 9 gene DOID:12849 autistic disorder ISO RGD:1348513 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:25741868|PMID:28492532|PMID:30208311 8718252 Arhgef9 Cdc42 guanine nucleotide exchange factor 9 gene DOID:12849 autistic disorder ISO RGD:1348513 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:25741868|PMID:28492532|PMID:28589176|PMID:30208311|PMID:32939676 8718252 Arhgef9 Cdc42 guanine nucleotide exchange factor 9 gene DOID:1826 epilepsy ISO RGD:1348513 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:25741868|PMID:28492532 8718252 Arhgef9 Cdc42 guanine nucleotide exchange factor 9 gene DOID:630 genetic disease ISO RGD:1348513 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16616186|PMID:18414213|PMID:21731583|PMID:22612257|PMID:25568878|PMID:25678704|PMID:25741868|PMID:26467025|PMID:26834553|PMID:28492532|PMID:28589176|PMID:28620718|PMID:29130122|PMID:30914922|PMID:31069529|PMID:31440721|PMID:32593896|PMID:32939676|PMID:35638461 8718252 Arhgef9 Cdc42 guanine nucleotide exchange factor 9 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1348513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21807943 8718252 Arhgef9 Cdc42 guanine nucleotide exchange factor 9 gene DOID:9008086 Developmental Disabilities ISO RGD:1348513 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:17893116|PMID:18615734|PMID:23033978|PMID:25678704|PMID:25741868|PMID:26834553|PMID:28492532|PMID:28589176|PMID:28708303 8718252 Arhgef9 Cdc42 guanine nucleotide exchange factor 9 gene DOID:9008582 Developmental Disease ISO RGD:1348513 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25678704|PMID:25741868|PMID:26834553|PMID:28492532|PMID:28589176 8718278 Galc galactosylceramidase gene DOID:0050952 spastic ataxia ISO RGD:1347926 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868|PMID:26795590|PMID:27638593|PMID:28492532|PMID:30777126|PMID:32576985|PMID:34445196 8718278 Galc galactosylceramidase gene DOID:0110331 Leber congenital amaurosis 3 ISO RGD:1347926 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 3 PMID:28492532 8718278 Galc galactosylceramidase gene DOID:10579 leukodystrophy ISO RGD:1347926 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Leukodystrophy PMID:22520351|PMID:25741868|PMID:27638593|PMID:28492532|PMID:29286531|PMID:8940268|PMID:9338580 8718278 Galc galactosylceramidase gene DOID:10587 Krabbe disease ISO RGD:1347926 D RGD:7240710 20180130 OMIM 8718278 Galc galactosylceramidase gene DOID:10587 Krabbe disease ISO RGD:1347926 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency PMID:10234611|PMID:10448809|PMID:10464649|PMID:10477434|PMID:10833326|PMID:11003282|PMID:11151421|PMID:12699861|PMID:16199547|PMID:16607461|PMID:16759875|PMID:17576681|PMID:17579360|PMID:18846620|PMID:19302934|PMID:20135576|PMID:20301416|PMID:20410102|PMID:20886637|PMID:21070211|PMID:21824559|PMID:21876145|PMID:22073273|PMID:22115770|PMID:22520351|PMID:22704718|PMID:23128445|PMID:23138179|PMID:23197103|PMID:23319190|PMID:23430802|PMID:23462331|PMID:23509109|PMID:23620143|PMID:24033266|PMID:24078576|PMID:24252386|PMID:24297913|PMID:24913062|PMID:25260228|PMID:25265039|PMID:25640679|PMID:25741868|PMID:25956830|PMID:26108647|PMID:26223439|PMID:26396125|PMID:26539891|PMID:26795590|PMID:26865610|PMID:26915362|PMID:27126738|PMID:27171547|PMID:27238910|PMID:27442402|PMID:27535533|PMID:27617109|PMID:27638583|PMID:27638592|PMID:27638593|PMID:27638604|PMID:27679535|PMID:27779215|PMID:27780934|PMID:27785412|PMID:28492532|PMID:28547031|PMID:28598007|PMID:28600779|PMID:28976722|PMID:29120458|PMID:29286531|PMID:29481565|PMID:29615819|PMID:29951496|PMID:29966168|PMID:30089515|PMID:30202406|PMID:30209698|PMID:30609409|PMID:30777126|PMID:31053700|PMID:31185936|PMID:31240153|PMID:31319225|PMID:31400137|PMID:31885218|PMID:32036093|PMID:32089546|PMID:32576985|PMID:32860008|PMID:32912261|PMID:33178108|PMID:3362311|PMID:34012265|PMID:34065072|PMID:7437911|PMID:7581365|PMID:8281145|PMID:8297359|PMID:8595408|PMID:8634707|PMID:8687180|PMID:8786069|PMID:8940268|PMID:9005874|PMID:9266397|PMID:9272171|PMID:9338580|PMID:9371928|PMID:9536098 8718278 Galc galactosylceramidase gene DOID:10587 Krabbe disease ISO RGD:1347926 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency PMID:10234611|PMID:10448809|PMID:10464649|PMID:10477434|PMID:10833326|PMID:11003282|PMID:11151421|PMID:12699861|PMID:16199547|PMID:16607461|PMID:16759875|PMID:17576681|PMID:17579360|PMID:18846620|PMID:19302934|PMID:20135576|PMID:20301416|PMID:20410102|PMID:20886637|PMID:21070211|PMID:21824559|PMID:21876145|PMID:22073273|PMID:22115770|PMID:22520351|PMID:22704718|PMID:23128445|PMID:23138179|PMID:23197103|PMID:23319190|PMID:23430802|PMID:23462331|PMID:23509109|PMID:23620143|PMID:24033266|PMID:24078576|PMID:24252386|PMID:24297913|PMID:24388568|PMID:24913062|PMID:25260228|PMID:25265039|PMID:25640679|PMID:25741868|PMID:25956830|PMID:26108647|PMID:26223439|PMID:26396125|PMID:26539891|PMID:26795590|PMID:26865610|PMID:26915362|PMID:27126738|PMID:27171547|PMID:27238910|PMID:27442402|PMID:27535533|PMID:27617109|PMID:27638583|PMID:27638592|PMID:27638593|PMID:27638604|PMID:27679535|PMID:27779215|PMID:27780934|PMID:27785412|PMID:28492532|PMID:28547031|PMID:28598007|PMID:28600779|PMID:28976722|PMID:29120458|PMID:29286531|PMID:29481565|PMID:29615819|PMID:29951496|PMID:29966168|PMID:30089515|PMID:30202406|PMID:30209698|PMID:30609409|PMID:30777126|PMID:31053700|PMID:31093932|PMID:31185936|PMID:31240153|PMID:31319225|PMID:31350907|PMID:31400137|PMID:31885218|PMID:32036093|PMID:32089546|PMID:32576985|PMID:32860008|PMID:32912261|PMID:33178108|PMID:3362311|PMID:34012265|PMID:34065072|PMID:7437911|PMID:7581365|PMID:8281145|PMID:8297359|PMID:8595408|PMID:8634707|PMID:8687180|PMID:8786069|PMID:8940268|PMID:9005874|PMID:9266397|PMID:9272171|PMID:9338580|PMID:9371928|PMID:9536098 8718278 Galc galactosylceramidase gene DOID:10587 Krabbe disease ISO RGD:1347926 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency PMID:10234611|PMID:10448809|PMID:10464649|PMID:10477434|PMID:10833326|PMID:11003282|PMID:11151421|PMID:12699861|PMID:16199547|PMID:16607461|PMID:16759875|PMID:17576681|PMID:17579360|PMID:17824908|PMID:18846620|PMID:19302934|PMID:20135576|PMID:20301416|PMID:20410102|PMID:20886637|PMID:21070211|PMID:21824559|PMID:21876145|PMID:22073273|PMID:22115770|PMID:22520351|PMID:22704718|PMID:23128445|PMID:23138179|PMID:23197103|PMID:23319190|PMID:23430802|PMID:23462331|PMID:23509109|PMID:23620143|PMID:24033266|PMID:24078576|PMID:24252386|PMID:24297913|PMID:24388568|PMID:24913062|PMID:25260228|PMID:25265039|PMID:25640679|PMID:25741868|PMID:25956830|PMID:26108647|PMID:26223439|PMID:26396125|PMID:26539891|PMID:26567009|PMID:26795590|PMID:26865610|PMID:26915362|PMID:27126738|PMID:27171547|PMID:27238910|PMID:27442402|PMID:27535533|PMID:27617109|PMID:27638583|PMID:27638592|PMID:27638593|PMID:27638604|PMID:27679535|PMID:27779215|PMID:27780934|PMID:27785412|PMID:28492532|PMID:28547031|PMID:28598007|PMID:28600779|PMID:28976722|PMID:29120458|PMID:29286531|PMID:29481565|PMID:29615819|PMID:29951496|PMID:29966168|PMID:30089515|PMID:30202406|PMID:30209698|PMID:30609409|PMID:30729410|PMID:30777126|PMID:31053700|PMID:31093932|PMID:31185936|PMID:31240153|PMID:31319225|PMID:31350907|PMID:31395954|PMID:31400137|PMID:31885218|PMID:32036093|PMID:32089546|PMID:32295525|PMID:32342562|PMID:32411386|PMID:32576985|PMID:32860008|PMID:32912261|PMID:33178108|PMID:3362311|PMID:34012265|PMID:34065072|PMID:34445196|PMID:35419325|PMID:36113749|PMID:7437911|PMID:7581365|PMID:8281145|PMID:8297359|PMID:8399327|PMID:8595408|PMID:8634707|PMID:8687180|PMID:8786069|PMID:8940268|PMID:9005874|PMID:9266397|PMID:9272171|PMID:9338580|PMID:9371928|PMID:9536098 8718278 Galc galactosylceramidase gene DOID:10587 Krabbe disease ISO RGD:1347926 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency | ClinVar Annotator: match by term: Leukodystrophy, Globoid Cell PMID:10234611|PMID:10448809|PMID:10464649|PMID:10477434|PMID:10833326|PMID:11003282|PMID:11151421|PMID:12699861|PMID:16199547|PMID:16607461|PMID:16759875|PMID:17576681|PMID:17579360|PMID:17824908|PMID:18846620|PMID:19302934|PMID:20135576|PMID:20301416|PMID:20410102|PMID:20886637|PMID:21070211|PMID:21824559|PMID:21876145|PMID:22073273|PMID:22115770|PMID:22520351|PMID:22704718|PMID:23128445|PMID:23138179|PMID:23197103|PMID:23319190|PMID:23430802|PMID:23462331|PMID:23509109|PMID:23620143|PMID:24033266|PMID:24078576|PMID:24252386|PMID:24297913|PMID:24388568|PMID:24913062|PMID:25260228|PMID:25265039|PMID:25640679|PMID:25741868|PMID:25956830|PMID:26108647|PMID:26223439|PMID:26396125|PMID:26539891|PMID:26567009|PMID:26795590|PMID:26865610|PMID:26915362|PMID:27126738|PMID:27171547|PMID:27238910|PMID:27442402|PMID:27535533|PMID:27617109|PMID:27638583|PMID:27638592|PMID:27638593|PMID:27638604|PMID:27679535|PMID:27779215|PMID:27780934|PMID:27785412|PMID:28492532|PMID:28547031|PMID:28598007|PMID:28600779|PMID:28855403|PMID:28976722|PMID:29120458|PMID:29286531|PMID:29481565|PMID:29615819|PMID:29951496|PMID:29966168|PMID:30089515|PMID:30202406|PMID:30209698|PMID:30609409|PMID:30729410|PMID:30777126|PMID:31053700|PMID:31093932|PMID:31185936|PMID:31240153|PMID:31319225|PMID:31350907|PMID:31395954|PMID:31400137|PMID:31885218|PMID:32036093|PMID:32089546|PMID:32295525|PMID:32342562|PMID:32411386|PMID:32576985|PMID:32860008|PMID:32912261|PMID:33178108|PMID:3362311|PMID:34012265|PMID:34065072|PMID:34445196|PMID:35013804|PMID:35419325|PMID:36113749|PMID:7437911|PMID:7581365|PMID:8281145|PMID:8297359|PMID:8399327|PMID:8595408|PMID:8634707|PMID:8687180|PMID:8786069|PMID:8940268|PMID:9005874|PMID:9266397|PMID:9272171|PMID:9338580|PMID:9371928|PMID:9536098 8718278 Galc galactosylceramidase gene DOID:10587 Krabbe disease ISO RGD:1347926 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency | ClinVar Annotator: match by term: Leukodystrophy, Globoid Cell PMID:10234611|PMID:10448809|PMID:10464649|PMID:10477434|PMID:10833326|PMID:11003282|PMID:11151421|PMID:12699861|PMID:16199547|PMID:16607461|PMID:16759875|PMID:17576681|PMID:17579360|PMID:17824908|PMID:18846620|PMID:19302934|PMID:20135576|PMID:20301416|PMID:20410102|PMID:20886637|PMID:21070211|PMID:21824559|PMID:21876145|PMID:22073273|PMID:22115770|PMID:22520351|PMID:22704718|PMID:23128445|PMID:23138179|PMID:23197103|PMID:23319190|PMID:23430802|PMID:23462331|PMID:23509109|PMID:23620143|PMID:24033266|PMID:24078576|PMID:24252386|PMID:24297913|PMID:24388568|PMID:24913062|PMID:25260228|PMID:25265039|PMID:25640679|PMID:25741868|PMID:25956830|PMID:26108647|PMID:26223439|PMID:26396125|PMID:26539891|PMID:26567009|PMID:26795590|PMID:26865610|PMID:26915362|PMID:27126738|PMID:27171547|PMID:27238910|PMID:27442402|PMID:27535533|PMID:27617109|PMID:27638583|PMID:27638592|PMID:27638593|PMID:27638604|PMID:27679535|PMID:27779215|PMID:27780934|PMID:27785412|PMID:28492532|PMID:28547031|PMID:28598007|PMID:28600779|PMID:28855403|PMID:28976722|PMID:29120458|PMID:29286531|PMID:29481565|PMID:29615819|PMID:29951496|PMID:29966168|PMID:30089515|PMID:30202406|PMID:30209698|PMID:30609409|PMID:30729410|PMID:30777126|PMID:31053700|PMID:31093932|PMID:31185936|PMID:31240153|PMID:31319225|PMID:31350907|PMID:31395954|PMID:31400137|PMID:31885218|PMID:32036093|PMID:32064984|PMID:32089546|PMID:32342562|PMID:32411386|PMID:32576985|PMID:32677356|PMID:32860008|PMID:32912261|PMID:32973651|PMID:33178108|PMID:3362311|PMID:33832819|PMID:34012265|PMID:34065072|PMID:34445196|PMID:34449528|PMID:35013804|PMID:35419325|PMID:35654103|PMID:36113749|PMID:7437911|PMID:7581365|PMID:8281145|PMID:8297359|PMID:8399327|PMID:8595408|PMID:8634707|PMID:8687180|PMID:8786069|PMID:8940268|PMID:9005874|PMID:9266397|PMID:9272171|PMID:9338580|PMID:9371928|PMID:9536098 8718278 Galc galactosylceramidase gene DOID:10587 Krabbe disease ISO RGD:1347926 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency PMID:10234611|PMID:10448809|PMID:10464649|PMID:10477434|PMID:10833326|PMID:11003282|PMID:11151421|PMID:12699861|PMID:16199547|PMID:16607461|PMID:16759875|PMID:17576681|PMID:17579360|PMID:17824908|PMID:18846620|PMID:19302934|PMID:20135576|PMID:20301416|PMID:20410102|PMID:20886637|PMID:21070211|PMID:21824559|PMID:21876145|PMID:22073273|PMID:22115770|PMID:22520351|PMID:22704718|PMID:23128445|PMID:23138179|PMID:23197103|PMID:23319190|PMID:23430802|PMID:23462331|PMID:23509109|PMID:23620143|PMID:24033266|PMID:24078576|PMID:24252386|PMID:24297913|PMID:24388568|PMID:24913062|PMID:25260228|PMID:25265039|PMID:25640679|PMID:25741868|PMID:25956830|PMID:26108647|PMID:26223439|PMID:26396125|PMID:26539891|PMID:26567009|PMID:26795590|PMID:26865610|PMID:26915362|PMID:27126738|PMID:27171547|PMID:27238910|PMID:27442402|PMID:27535533|PMID:27617109|PMID:27638583|PMID:27638592|PMID:27638593|PMID:27638604|PMID:27679535|PMID:27779215|PMID:27780934|PMID:27785412|PMID:28337550|PMID:28492532|PMID:28547031|PMID:28598007|PMID:28600779|PMID:28855403|PMID:28976722|PMID:29120458|PMID:29286531|PMID:29481565|PMID:29615819|PMID:29951496|PMID:29966168|PMID:30089515|PMID:30202406|PMID:30209698|PMID:30609409|PMID:30729410|PMID:30777126|PMID:31053700|PMID:31093932|PMID:31185936|PMID:31240153|PMID:31319225|PMID:31350907|PMID:31395954|PMID:31400137|PMID:31885218|PMID:32036093|PMID:32064984|PMID:32089546|PMID:32342562|PMID:32411386|PMID:32576985|PMID:32677356|PMID:32860008|PMID:32912261|PMID:32973651|PMID:33178108|PMID:3362311|PMID:33832819|PMID:34012265|PMID:34065072|PMID:34445196|PMID:34449528|PMID:35013804|PMID:35286032|PMID:35419325|PMID:35654103|PMID:36113749|PMID:7437911|PMID:7581365|PMID:8281145|PMID:8297359|PMID:8399327|PMID:8595408|PMID:8634707|PMID:8687180|PMID:8786069|PMID:8940268|PMID:9005874|PMID:9266397|PMID:9272171|PMID:9338580|PMID:9371928|PMID:9536098 8718278 Galc galactosylceramidase gene DOID:10587 Krabbe disease ISO RGD:1347926 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency | ClinVar Annotator: match by term: Leukodystrophy, Globoid Cell PMID:10234611|PMID:10448809|PMID:10464649|PMID:10477434|PMID:10833326|PMID:11003282|PMID:11151421|PMID:12699861|PMID:16199547|PMID:16607461|PMID:16759875|PMID:17576681|PMID:17579360|PMID:17824908|PMID:18846620|PMID:19302934|PMID:20135576|PMID:20301416|PMID:20410102|PMID:20886637|PMID:21070211|PMID:21824559|PMID:21876145|PMID:22073273|PMID:22115770|PMID:22520351|PMID:22704718|PMID:23128445|PMID:23138179|PMID:23197103|PMID:23319190|PMID:23430802|PMID:23462331|PMID:23509109|PMID:23620143|PMID:24033266|PMID:24078576|PMID:24252386|PMID:24297913|PMID:24388568|PMID:24913062|PMID:25260228|PMID:25265039|PMID:25640679|PMID:25741868|PMID:25741915|PMID:25956830|PMID:26108647|PMID:26223439|PMID:26396125|PMID:26539891|PMID:26567009|PMID:26795590|PMID:26865610|PMID:26915362|PMID:27126738|PMID:27171547|PMID:27238910|PMID:27442402|PMID:27535533|PMID:27617109|PMID:27638583|PMID:27638592|PMID:27638593|PMID:27638604|PMID:27679535|PMID:27779215|PMID:27780934|PMID:27785412|PMID:28337550|PMID:28492532|PMID:28547031|PMID:28598007|PMID:28600779|PMID:28855403|PMID:28976722|PMID:29120458|PMID:29286531|PMID:29481565|PMID:29615819|PMID:29951496|PMID:29966168|PMID:30089515|PMID:30202406|PMID:30209698|PMID:30609409|PMID:30729410|PMID:30777126|PMID:31053700|PMID:31093932|PMID:31185936|PMID:31240153|PMID:31319225|PMID:31350907|PMID:31395954|PMID:31400137|PMID:31885218|PMID:32036093|PMID:32064984|PMID:32089546|PMID:32342562|PMID:32411386|PMID:32576985|PMID:32677356|PMID:32860008|PMID:32912261|PMID:32973651|PMID:33178108|PMID:33190188|PMID:3362311|PMID:33832819|PMID:34012265|PMID:34065072|PMID:34445196|PMID:34449528|PMID:35013804|PMID:35286032|PMID:35419325|PMID:35654103|PMID:36113749|PMID:7437911|PMID:7581365|PMID:8281145|PMID:8297359|PMID:8399327|PMID:8595408|PMID:8634707|PMID:8687180|PMID:8786069|PMID:8940268|PMID:9005874|PMID:9266397|PMID:9272171|PMID:9338580|PMID:9371928|PMID:9536098 8718278 Galc galactosylceramidase gene DOID:10587 Krabbe disease ISO RGD:1347926 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: GALC DEFICIENCY | ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency PMID:10234611|PMID:10448809|PMID:10464649|PMID:10477434|PMID:10833326|PMID:11003282|PMID:11151421|PMID:12699861|PMID:16199547|PMID:16607461|PMID:16759875|PMID:17576681|PMID:17579360|PMID:17824908|PMID:18846620|PMID:19302934|PMID:20135576|PMID:20301416|PMID:20410102|PMID:20886637|PMID:21070211|PMID:21824559|PMID:21876145|PMID:22073273|PMID:22115770|PMID:22520351|PMID:22704718|PMID:23128445|PMID:23138179|PMID:23197103|PMID:23319190|PMID:23430802|PMID:23462331|PMID:23509109|PMID:23620143|PMID:24078576|PMID:24252386|PMID:24297913|PMID:24388568|PMID:24913062|PMID:25260228|PMID:25265039|PMID:25640679|PMID:25741868|PMID:25956830|PMID:26108647|PMID:26223439|PMID:26396125|PMID:26539891|PMID:26567009|PMID:26795590|PMID:26865610|PMID:26915362|PMID:27126738|PMID:27171547|PMID:27238910|PMID:27442402|PMID:27535533|PMID:27617109|PMID:27638583|PMID:27638592|PMID:27638593|PMID:27638604|PMID:27679535|PMID:27779215|PMID:27780934|PMID:27785412|PMID:28337550|PMID:28492532|PMID:28547031|PMID:28598007|PMID:28600779|PMID:28855403|PMID:28976722|PMID:29120458|PMID:29286531|PMID:29481565|PMID:29615819|PMID:29691679|PMID:29951496|PMID:29966168|PMID:30089515|PMID:30202406|PMID:30209698|PMID:30609409|PMID:30729410|PMID:30777126|PMID:31053700|PMID:31093932|PMID:31185936|PMID:31240153|PMID:31319225|PMID:31350907|PMID:31395954|PMID:31400137|PMID:31589614|PMID:31885218|PMID:31980526|PMID:32036093|PMID:32064984|PMID:32089546|PMID:32342562|PMID:32411386|PMID:32576985|PMID:32677356|PMID:32860008|PMID:32912261|PMID:32973651|PMID:33178108|PMID:33190188|PMID:33547378|PMID:3362311|PMID:33832819|PMID:34012265|PMID:34065072|PMID:34071213|PMID:34426522|PMID:34445196|PMID:34449528|PMID:35013804|PMID:35212100|PMID:35286032|PMID:35419325|PMID:35654103|PMID:36113749|PMID:36380532|PMID:37597066|PMID:39825153|PMID:7437911|PMID:7581365|PMID:8281145|PMID:8297359|PMID:8399327|PMID:8595408|PMID:8634707|PMID:8687180|PMID:8786069|PMID:8940268|PMID:9005874|PMID:9266397|PMID:9272171|PMID:9338580|PMID:9371928|PMID:9536098 8718278 Galc galactosylceramidase gene DOID:1059 intellectual disability ISO RGD:1347926 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 8718278 Galc galactosylceramidase gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:1347926 D RGD:9068941 20200911 RGD mRNA:decreased expression:frontal cortex (human) PMID:30009661|REF_RGD_ID:38599170 8718278 Galc galactosylceramidase gene DOID:13276 Mycoplasma pneumoniae pneumonia ISO RGD:1347926 D RGD:9068941 20200911 RGD associated with Guillain-Barre syndrome; protein:increased expression:Cerebrospinal fluid, serum (human) PMID:29301655|REF_RGD_ID:38599172 8718278 Galc galactosylceramidase gene DOID:13276 Mycoplasma pneumoniae pneumonia ISO RGD:1347926 D RGD:9068941 20200911 RGD associated with Guillain-Barre syndrome; protein:increased expression:serum (human) PMID:12225900|PMID:27490360|REF_RGD_ID:38599168|REF_RGD_ID:38599169 8718278 Galc galactosylceramidase gene DOID:13276 Mycoplasma pneumoniae pneumonia ISO RGD:1347926 D RGD:9068941 20200911 RGD protein:increased expression:serum (human) PMID:30396892|REF_RGD_ID:38599171 8718278 Galc galactosylceramidase gene DOID:13276 Mycoplasma pneumoniae pneumonia ISO RGD:1552188 D RGD:9068941 20200911 RGD protein:increased expression:serum (mouse) PMID:30396892|REF_RGD_ID:38599171 8718278 Galc galactosylceramidase gene DOID:14499 Fabry disease ISO RGD:1347926 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Fabry disease PMID:25741868|PMID:33547378|PMID:37597066 8718278 Galc galactosylceramidase gene DOID:1826 epilepsy ISO RGD:1347926 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Epilepsy syndrome 8718278 Galc galactosylceramidase gene DOID:480 movement disease ISO RGD:1347926 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Movement disorder 8718278 Galc galactosylceramidase gene DOID:630 genetic disease ISO RGD:1347926 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16607461|PMID:17576681|PMID:20301416|PMID:20886637|PMID:21824559|PMID:21876145|PMID:22115770|PMID:22520351|PMID:23319190|PMID:23462331|PMID:24252386|PMID:24297913|PMID:25741868|PMID:26795590|PMID:26865610|PMID:27126738|PMID:27171547|PMID:27638583|PMID:27638592|PMID:27638593|PMID:28492532|PMID:29691679|PMID:30777126|PMID:31240153|PMID:31589614|PMID:31885218|PMID:31980526|PMID:32089546|PMID:32912261|PMID:33178108|PMID:3362311|PMID:34012265|PMID:34065072|PMID:34071213|PMID:35419325|PMID:7437911|PMID:8281145|PMID:8399327|PMID:8940268|PMID:9272171|PMID:9338580|PMID:9536098 8718278 Galc galactosylceramidase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347926 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8718278 Galc galactosylceramidase gene DOID:9006534 Nervous System Malformations ISO RGD:1347926 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:16199547|PMID:16607461|PMID:22115770|PMID:22520351|PMID:25741868|PMID:26795590|PMID:28492532|PMID:28547031|PMID:7437911|PMID:9272171 8718303 Lratd2 LRAT domain containing 2 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1606136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 8718309 Hoxb2 homeobox B2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1320419 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 PMID:38922859 8718318 Dynap dynactin associated protein gene DOID:1059 intellectual disability ISO RGD:1344523 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8718319 St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1603708 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:18414213|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23252400|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31584066|PMID:9536098 8718319 St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1603708 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:18414213|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23252400|PMID:25640679|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31584066|PMID:35982160|PMID:9536098 8718319 St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 gene DOID:0080414 developmental and epileptic encephalopathy 15 ISO RGD:1603708 D RGD:7240710 20180130 OMIM 8718319 St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 gene DOID:0080414 developmental and epileptic encephalopathy 15 ISO RGD:1603708 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 15 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 15 | ClinVar Annotator: match by term: Epilepsy due to perinatal stroke | ClinVar Annotator: match by term: ST3GAL3-related condition PMID:16199547|PMID:18414213|PMID:23252400|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30089820|PMID:31584066 8718319 St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1603708 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:25741868 8718319 St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 gene DOID:0081180 autosomal recessive intellectual developmental disorder 12 ISO RGD:1603708 D RGD:7240710 20180130 OMIM 8718319 St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 gene DOID:0081180 autosomal recessive intellectual developmental disorder 12 ISO RGD:1603708 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 12 | ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 12 PMID:17120046|PMID:18414213|PMID:21907012|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31584066|PMID:32666583 8718319 St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1603708 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8718319 St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1603708 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:18414213|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23252400|PMID:25640679|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31584066|PMID:35982160|PMID:9536098 8718319 St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 gene DOID:1059 intellectual disability ISO RGD:1603708 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868|PMID:28492532|PMID:32666583 8718319 St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 gene DOID:630 genetic disease ISO RGD:1603708 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31584066 8718319 St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 gene DOID:9002447 Myoectodermal Gonadal Dysgenesis Syndrome ISO RGD:1603708 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: 46,XY agonadism with mental retardation, short stature, retarded bone age, and multiple extragenital malformations PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 8718319 St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 gene DOID:9005154 Myoclonic Epilepsies ISO RGD:1603708 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized myoclonic seizures PMID:25741868|PMID:28492532 8718319 St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 gene DOID:9007114 Mobility Limitation ISO RGD:1603708 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Difficulty walking PMID:25741868|PMID:32666583 8718368 Tinag tubulointerstitial nephritis antigen gene DOID:9002165 Diabetic Nephropathies ISO RGD:1346434 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19634143 8718383 Nrip1 nuclear receptor interacting protein 1 gene DOID:0080205 CAKUT ISO RGD:1323522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:28381549|PMID:30143558 8718383 Nrip1 nuclear receptor interacting protein 1 gene DOID:0080600 COVID-19 ISO RGD:1323522 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8718383 Nrip1 nuclear receptor interacting protein 1 gene DOID:10652 Alzheimer's disease ISO RGD:1323522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:24691562 8718383 Nrip1 nuclear receptor interacting protein 1 gene DOID:11476 osteoporosis ISO RGD:1323522 D RGD:9068941 20200609 RGD DNA:silent mutation, haplotype:p.G75G (human) PMID:16530497|REF_RGD_ID:10045825 8718383 Nrip1 nuclear receptor interacting protein 1 gene DOID:2843 long QT syndrome ISO RGD:1323522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 8718383 Nrip1 nuclear receptor interacting protein 1 gene DOID:5419 schizophrenia ISO RGD:1323522 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21743468 8718383 Nrip1 nuclear receptor interacting protein 1 gene DOID:5844 myocardial infarction ISO RGD:1323522 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22503866 8718383 Nrip1 nuclear receptor interacting protein 1 gene DOID:6000 congestive heart failure ISO RGD:1323522 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22503866 8718383 Nrip1 nuclear receptor interacting protein 1 gene DOID:630 genetic disease ISO RGD:1323522 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8718383 Nrip1 nuclear receptor interacting protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8718383 Nrip1 nuclear receptor interacting protein 1 gene DOID:9004914 Postmenopausal Osteoporosis susceptibility ISO RGD:1323522 D RGD:9068941 20200609 RGD DNA:silent mutation:cds:p.G75G (human) PMID:22335445|REF_RGD_ID:10045849 8718383 Nrip1 nuclear receptor interacting protein 1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1323522 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27348297 8718383 Nrip1 nuclear receptor interacting protein 1 gene DOID:9008581 CAKUT3 ISO RGD:1323522 D RGD:7240710 20190315 OMIM 8718383 Nrip1 nuclear receptor interacting protein 1 gene DOID:9008581 CAKUT3 ISO RGD:1323522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 3 | ClinVar Annotator: match by term: NRIP1-related condition PMID:25741868|PMID:28381549|PMID:28492532|PMID:30143558 8718383 Nrip1 nuclear receptor interacting protein 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1323522 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22267197 8718414 Thsd4 thrombospondin type 1 domain containing 4 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1605622 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868 8718414 Thsd4 thrombospondin type 1 domain containing 4 gene DOID:2717 Bloom syndrome ISO RGD:1605622 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8718414 Thsd4 thrombospondin type 1 domain containing 4 gene DOID:303 substance-related disorder ISO RGD:1605622 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 8718414 Thsd4 thrombospondin type 1 domain containing 4 gene DOID:9008628 Familial Thoracic Aortic Aneurysm 12 ISO RGD:1605622 D RGD:7240710 20220413 OMIM 8718414 Thsd4 thrombospondin type 1 domain containing 4 gene DOID:9008628 Familial Thoracic Aortic Aneurysm 12 ISO RGD:1605622 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 12 | ClinVar Annotator: match by term: THSD4-related condition PMID:25741868|PMID:32855533 8718414 Thsd4 thrombospondin type 1 domain containing 4 gene DOID:9256 colorectal cancer ISO RGD:1605622 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8718430 Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:0060027 agammaglobulinemia 4 ISO RGD:733329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive PMID:28492532 8718430 Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:0060374 orofaciodigital syndrome IV ISO RGD:733329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Orofacial-digital syndrome IV PMID:28492532 8718430 Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:0070131 autosomal dominant cutis laxa 3 ISO RGD:733329 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal dominant 3 PMID:21739576|PMID:24913064|PMID:28492532|PMID:28567303|PMID:28604674|PMID:29915212 8718430 Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:0110815 hereditary spastic paraplegia 64 ISO RGD:733329 D RGD:7240710 20180130 OMIM 8718430 Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:0110815 hereditary spastic paraplegia 64 ISO RGD:733329 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 64 PMID:16199547|PMID:17576681|PMID:24482476|PMID:25741868|PMID:28492532|PMID:29691679|PMID:30652007|PMID:35471564|PMID:9536098 8718430 Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:1059 intellectual disability ISO RGD:733329 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 8718430 Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:10591 pre-eclampsia ISO RGD:733329 D RGD:9068941 20200609 RGD protein:decreased expression:abdominal fascia: PMID:17469012|REF_RGD_ID:9685457 8718430 Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:1459 hypothyroidism ISO RGD:69265 D RGD:9068941 20200609 RGD mRNA,protein:increased expression,increased activity:hippocampus: PMID:15811553|REF_RGD_ID:9685476 8718430 Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:1852 intrahepatic cholestasis ISO RGD:69265 D RGD:9068941 20200609 RGD protein:decreased activity,altered location:liver: PMID:11383876|REF_RGD_ID:9685454 8718430 Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:224 transient cerebral ischemia ISO RGD:69265 D RGD:9068941 20200609 RGD mRNA:increased expression:brain: PMID:9634555|REF_RGD_ID:9685492 8718430 Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:733329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:25741868|PMID:28492532 8718430 Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:3213 demyelinating disease ISO RGD:69265 D RGD:9068941 20200609 RGD PMID:17239402|REF_RGD_ID:9685485 8718430 Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:630 genetic disease ISO RGD:733329 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8718430 Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:9001036 Penetrating Head Injuries ISO RGD:69265 D RGD:9068941 20200609 RGD protein:increased expression,increased activity:cerebral cortex: PMID:16672190|REF_RGD_ID:9685448 8718430 Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:9002514 Neointima treatment ISO RGD:733329 D RGD:9068941 20200609 RGD PMID:18485080|REF_RGD_ID:9685444 8718430 Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis disease_progression ISO RGD:69265 D RGD:9068941 20200609 RGD PMID:19524108|REF_RGD_ID:9685491 8718430 Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:9004283 Transplant Rejection ISO RGD:733330 D RGD:9068941 20200609 RGD PMID:10656876|REF_RGD_ID:9685445 8718430 Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:9004484 Sepsis ISO RGD:69265 D RGD:9068941 20200609 RGD protein:increased activity:lymphocyte: PMID:22645477|REF_RGD_ID:9685487 8718430 Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69265 D RGD:9068941 20200609 RGD protein,mRNA:increased expression:glial cell, retina: PMID:18687327|REF_RGD_ID:9685473 8718430 Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69265 D RGD:9068941 20200609 RGD protein:enzyme activity:platelet PMID:17119848|REF_RGD_ID:9685486 8718430 Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:9005725 Iron Overload ISO RGD:69265 D RGD:9068941 20200609 RGD protein:enzyme activity:platelet PMID:17119848|REF_RGD_ID:9685486 8718430 Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:733329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 8718430 Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:9008217 Hemorrhage ISO RGD:733330 D RGD:9068941 20200609 RGD PMID:10470077|REF_RGD_ID:735004 8718456 Usp47 ubiquitin specific peptidase 47 gene DOID:1059 intellectual disability ISO RGD:1321301 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8718496 Hoxd3 homeobox D3 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1344554 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 8718496 Hoxd3 homeobox D3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1344554 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19283074 8718507 Cetn2 centrin 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:736112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 8718507 Cetn2 centrin 2 gene DOID:0111823 autosomal hemophilia A ISO RGD:736112 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A PMID:31690835 8718507 Cetn2 centrin 2 gene DOID:12134 factor VIII deficiency ISO RGD:736112 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Factor 8 deficiency, congenital PMID:31690835 8718507 Cetn2 centrin 2 gene DOID:12849 autistic disorder ISO RGD:736112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8718527 Magi3 membrane associated guanylate kinase, WW and PDZ domain containing 3 gene DOID:0080690 RASopathy ISO RGD:1605836 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8718527 Magi3 membrane associated guanylate kinase, WW and PDZ domain containing 3 gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1605836 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 8718527 Magi3 membrane associated guanylate kinase, WW and PDZ domain containing 3 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1605836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 8718567 Ankrd34c ankyrin repeat domain 34C gene DOID:2717 Bloom syndrome ISO RGD:2291762 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8718567 Ankrd34c ankyrin repeat domain 34C gene DOID:9256 colorectal cancer ISO RGD:2291762 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8718653 Mboat1 membrane bound glycerophospholipid O-acyltransferase 1 gene DOID:13580 cholestasis ISO RGD:1322766 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 8718667 Lenep lens epithelial protein gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:69166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 8718667 Lenep lens epithelial protein gene DOID:0111940 immunodeficiency 42 ISO RGD:69166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8718667 Lenep lens epithelial protein gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:69166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8718667 Lenep lens epithelial protein gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:69166 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8718667 Lenep lens epithelial protein gene DOID:1540 parathyroid carcinoma ISO RGD:69166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8718667 Lenep lens epithelial protein gene DOID:5812 MHC class II deficiency ISO RGD:69166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8718667 Lenep lens epithelial protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:69166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8718679 Kiss1r KISS1 receptor gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:731975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 8718679 Kiss1r KISS1 receptor gene DOID:0090070 hypogonadotropic hypogonadism ISO RGD:731975 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism with or without anosmia PMID:14573733|PMID:23349759|PMID:25741868|PMID:28492532|PMID:31073722 8718679 Kiss1r KISS1 receptor gene DOID:0090074 hypogonadotropic hypogonadism 8 with or without anosmia ISO RGD:731975 D RGD:7240710 20180130 OMIM 8718679 Kiss1r KISS1 receptor gene DOID:0090074 hypogonadotropic hypogonadism 8 with or without anosmia ISO RGD:731975 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 8 with or without anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 8 without anosmia PMID:12788881|PMID:12944565|PMID:14573733|PMID:17164310|PMID:18272894|PMID:18772143|PMID:20371656|PMID:23349759|PMID:23643382|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31073722 8718679 Kiss1r KISS1 receptor gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:731975 D RGD:8554872 20250114 ClinVar ClinVar Annotator: match by term: Isolated hypogonadotropic hypogonadism PMID:14573733|PMID:23349759|PMID:25741868|PMID:28492532|PMID:31073722 8718679 Kiss1r KISS1 receptor gene DOID:0112310 central precocious puberty 1 ISO RGD:731975 D RGD:7240710 20180130 OMIM 8718679 Kiss1r KISS1 receptor gene DOID:0112310 central precocious puberty 1 ISO RGD:731975 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Central precocious puberty 1 | ClinVar Annotator: match by term: KISS1R-related condition PMID:14573733|PMID:15598687|PMID:17164310|PMID:17700012|PMID:18272894|PMID:23349759|PMID:25741868|PMID:26199944|PMID:26467025|PMID:28492532|PMID:29452377|PMID:31073722|PMID:32171629|PMID:35729303|PMID:36123965 8718679 Kiss1r KISS1 receptor gene DOID:11383 cryptorchidism ISO RGD:731975 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Bilateral cryptorchidism PMID:15598687|PMID:25741868|PMID:28492532|PMID:29452377 8718679 Kiss1r KISS1 receptor gene DOID:1612 breast cancer severity ISO RGD:731975 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor:high levels of both KISS1 and KISS1R in ERalpha+ tumors treated with tamoxifen associated with shorter relapse-free survival PMID:17914099|REF_RGD_ID:2292123 8718679 Kiss1r KISS1 receptor gene DOID:1921 Klinefelter syndrome ISO RGD:731975 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:14573733|PMID:23349759|PMID:25741868|PMID:28492532|PMID:31073722 8718679 Kiss1r KISS1 receptor gene DOID:1924 hypogonadism ISO RGD:731975 D RGD:9068941 20250116 RGD Hypogonadotropic hypogonadism, OMIM:146110 DNA:deletion:exon:155-bp deletion of the intron4/exon5 splice acceptor site and part of exon 5 PMID:12944565|REF_RGD_ID:1599279 8718679 Kiss1r KISS1 receptor gene DOID:2671 transitional cell carcinoma severity ISO RGD:731975 D RGD:9068941 20200609 RGD urinary bladder TCC; mRNA:increased expression:tumor:versus normal bladder, with significantly higher expression in high-grade vs low-grade tumors (p=0.03) PMID:17164231|REF_RGD_ID:2292127 8718679 Kiss1r KISS1 receptor gene DOID:3113 papillary carcinoma ISO RGD:731975 D RGD:9068941 20200609 RGD PMID:11994395|REF_RGD_ID:1599280 8718679 Kiss1r KISS1 receptor gene DOID:3852 Peutz-Jeghers syndrome ISO RGD:731975 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peutz-Jeghers syndrome PMID:14970844|PMID:15188174|PMID:16287113|PMID:16648371|PMID:17924967|PMID:20623358|PMID:21118512|PMID:22382802|PMID:23399955|PMID:27550049|PMID:28303455|PMID:28492532 8718679 Kiss1r KISS1 receptor gene DOID:5339 cyclic hematopoiesis ISO RGD:731975 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 8718679 Kiss1r KISS1 receptor gene DOID:630 genetic disease ISO RGD:731975 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8718679 Kiss1r KISS1 receptor gene DOID:9000217 Stomach Neoplasms ISO RGD:731975 D RGD:9068941 20240912 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 8718679 Kiss1r KISS1 receptor gene DOID:9001239 Delayed Puberty ISO RGD:731975 D RGD:9068941 20240912 CTD CTD Direct Evidence: marker/mechanism PMID:21527035 8718679 Kiss1r KISS1 receptor gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:731975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868 8718679 Kiss1r KISS1 receptor gene DOID:9007284 Precocious Puberty ISO RGD:731975 D RGD:9068941 20240912 CTD CTD Direct Evidence: marker/mechanism 8718688 Fah fumarylacetoacetate hydrolase gene DOID:0050725 tyrosinemia type II ISO RGD:733367 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Tyrosinemia type II PMID:14691918|PMID:17576681|PMID:20301688|PMID:22975760|PMID:23193487|PMID:23430822|PMID:25681080|PMID:25741868|PMID:26565546|PMID:28492532|PMID:7942842|PMID:8829657|PMID:9101289|PMID:9536098 8718688 Fah fumarylacetoacetate hydrolase gene DOID:0050726 tyrosinemia type I ISO RGD:733367 D RGD:7240710 20180425 OMIM 8718688 Fah fumarylacetoacetate hydrolase gene DOID:0050726 tyrosinemia type I ISO RGD:733367 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Tyrosinemia type I PMID:10073910|PMID:10508789|PMID:11196105|PMID:11278491|PMID:11476670|PMID:11754109|PMID:12203990|PMID:12555948|PMID:1401056|PMID:14691918|PMID:15187789|PMID:15465000|PMID:15638932|PMID:16199547|PMID:16521249|PMID:17576681|PMID:19569981|PMID:19763152|PMID:20301688|PMID:20307669|PMID:21117323|PMID:21752152|PMID:21764616|PMID:22145516|PMID:22406018|PMID:22554029|PMID:22802474|PMID:22884142|PMID:22975760|PMID:23000314|PMID:23193487|PMID:23225041|PMID:23348723|PMID:23430822|PMID:23430836|PMID:23895425|PMID:23927806|PMID:24016420|PMID:24033266|PMID:24516753|PMID:24555242|PMID:24756054|PMID:25081276|PMID:25087612|PMID:25256450|PMID:25525159|PMID:25564536|PMID:25640679|PMID:25681080|PMID:25741868|PMID:26565546|PMID:27093575|PMID:27397503|PMID:27814443|PMID:28039895|PMID:28468868|PMID:28492532|PMID:28755182|PMID:28755192|PMID:29326876|PMID:29497141|PMID:30414057|PMID:30581635|PMID:306090409|PMID:30954369|PMID:31030436|PMID:31300554|PMID:31568711|PMID:31574857|PMID:31965297|PMID:31998365|PMID:32832707|PMID:33083013|PMID:34023347|PMID:35800472|PMID:36393896|PMID:7550234|PMID:7757089|PMID:7929843|PMID:7942842|PMID:7977370|PMID:8005583|PMID:8028615|PMID:8076937|PMID:8162054|PMID:8204664|PMID:8318997|PMID:8364576|PMID:8557261|PMID:8723690|PMID:8723698|PMID:8821854|PMID:8829657|PMID:9101289|PMID:9536098|PMID:9633815|PMID:9705236 8718688 Fah fumarylacetoacetate hydrolase gene DOID:0050726 tyrosinemia type I treatment ISO RGD:62225 D RGD:9068941 20200609 RGD PMID:30368954|REF_RGD_ID:14401588 8718688 Fah fumarylacetoacetate hydrolase gene DOID:0080600 COVID-19 ISO RGD:733367 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8718688 Fah fumarylacetoacetate hydrolase gene DOID:10763 hypertension ISO RGD:61932 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney PMID:15731461|REF_RGD_ID:1559295 8718688 Fah fumarylacetoacetate hydrolase gene DOID:2717 Bloom syndrome ISO RGD:733367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8718688 Fah fumarylacetoacetate hydrolase gene DOID:3633 beta-mannosidosis ISO RGD:733367 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Beta-D-mannosidosis PMID:25741868 8718688 Fah fumarylacetoacetate hydrolase gene DOID:409 liver disease ISO RGD:62225 D RGD:9068941 20200609 RGD PMID:7545495|REF_RGD_ID:737742 8718688 Fah fumarylacetoacetate hydrolase gene DOID:5082 liver cirrhosis ISO RGD:61932 D RGD:9068941 20200609 RGD PMID:27510266|REF_RGD_ID:14398823 8718688 Fah fumarylacetoacetate hydrolase gene DOID:630 genetic disease ISO RGD:733367 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 8718688 Fah fumarylacetoacetate hydrolase gene DOID:687 hepatoblastoma ISO RGD:733367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma 8718688 Fah fumarylacetoacetate hydrolase gene DOID:9007874 Liver Failure ISO RGD:61932 D RGD:9068941 20200609 RGD PMID:27510266|REF_RGD_ID:14398823 8718688 Fah fumarylacetoacetate hydrolase gene DOID:9256 colorectal cancer ISO RGD:733367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8718688 Fah fumarylacetoacetate hydrolase gene DOID:9275 tyrosinemia ISO RGD:733367 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: FAH deficiency | ClinVar Annotator: match by term: Fumarylacetoacetase deficiency | ClinVar Annotator: match by term: Hypertyrosinemia | ClinVar Annotator: match by term: Tyrosine aminotransferase deficiency | ClinVar Annotator: match by term: Tyrosinemia PMID:11278491|PMID:11476670|PMID:11754109|PMID:12203990|PMID:14691918|PMID:15187789|PMID:15638932|PMID:16521249|PMID:17576681|PMID:20301688|PMID:21752152|PMID:21764616|PMID:22554029|PMID:22802474|PMID:22975760|PMID:23193487|PMID:23348723|PMID:23430822|PMID:23430836|PMID:23895425|PMID:24016420|PMID:24033266|PMID:24555242|PMID:25081276|PMID:25087612|PMID:25256450|PMID:25525159|PMID:25681080|PMID:25741868|PMID:26565546|PMID:27814443|PMID:28468868|PMID:28492532|PMID:28755182|PMID:28755192|PMID:29326876|PMID:29497141|PMID:30414057|PMID:30581635|PMID:306090409|PMID:31300554|PMID:31568711|PMID:31574857|PMID:31998365|PMID:35800472|PMID:7757089|PMID:7929843|PMID:7942842|PMID:7977370|PMID:8028615|PMID:8076937|PMID:8318997|PMID:8557261|PMID:8723690|PMID:8821854|PMID:8829657|PMID:9101289|PMID:9536098|PMID:9633815|PMID:9705236 8718744 Adcyap1 adenylate cyclase activating polypeptide 1 gene DOID:0050700 cardiomyopathy ISO RGD:732730 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20378996 8718744 Adcyap1 adenylate cyclase activating polypeptide 1 gene DOID:0050741 alcohol dependence susceptibility ISO RGD:732730 D RGD:9068941 20240229 RGD DNA:SNP:: (rs2856966) (human) PMID:20554694|REF_RGD_ID:401976551 8718744 Adcyap1 adenylate cyclase activating polypeptide 1 gene DOID:0070355 overactive bladder syndrome ISO RGD:732730 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16322346 8718744 Adcyap1 adenylate cyclase activating polypeptide 1 gene DOID:0080855 Parkinsonism ISO RGD:2037 D RGD:9068941 20200609 RGD PMID:16888218|REF_RGD_ID:2325295 8718744 Adcyap1 adenylate cyclase activating polypeptide 1 gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:2037 D RGD:9068941 20200609 RGD PMID:15702783|REF_RGD_ID:2325308 8718744 Adcyap1 adenylate cyclase activating polypeptide 1 gene DOID:12849 autistic disorder ISO RGD:732730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8718744 Adcyap1 adenylate cyclase activating polypeptide 1 gene DOID:1679 cystitis ISO RGD:2037 D RGD:9068941 20200609 RGD mRNA:increased expression:urinary bladder urothelium PMID:18563302|REF_RGD_ID:2315964 8718744 Adcyap1 adenylate cyclase activating polypeptide 1 gene DOID:2018 hyperinsulinism ISO RGD:10084 D RGD:9068941 20200609 RGD PMID:14742740|REF_RGD_ID:2325255 8718744 Adcyap1 adenylate cyclase activating polypeptide 1 gene DOID:3602 toxic encephalopathy ISO RGD:732730 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29604313 8718744 Adcyap1 adenylate cyclase activating polypeptide 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:732730 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 8718744 Adcyap1 adenylate cyclase activating polypeptide 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2037 D RGD:9068941 20200609 RGD PMID:15913892|REF_RGD_ID:2325306 8718744 Adcyap1 adenylate cyclase activating polypeptide 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2037 D RGD:9068941 20200609 RGD protein:altered expression:spinal cord,dorsal root ganglion, urinary bladder PMID:15698618|REF_RGD_ID:2325309 8718744 Adcyap1 adenylate cyclase activating polypeptide 1 gene DOID:9000998 Brain Injuries ISO RGD:2037 D RGD:9068941 20200609 RGD PMID:16689670|REF_RGD_ID:2325298 8718744 Adcyap1 adenylate cyclase activating polypeptide 1 gene DOID:9001366 Psychomotor Agitation ISO RGD:732730 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17658665 8718744 Adcyap1 adenylate cyclase activating polypeptide 1 gene DOID:9002221 Hyperplasia ISO RGD:10084 D RGD:9068941 20200609 RGD PMID:14742740|REF_RGD_ID:2325255 8718744 Adcyap1 adenylate cyclase activating polypeptide 1 gene DOID:9003165 Miosis ISO RGD:732730 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8637627 8718744 Adcyap1 adenylate cyclase activating polypeptide 1 gene DOID:9004001 Facial Nerve Injuries ISO RGD:2037 D RGD:9068941 20200609 RGD mRNA:increased expression:facial VII nucleus PMID:19427307|REF_RGD_ID:2325258 8718744 Adcyap1 adenylate cyclase activating polypeptide 1 gene DOID:9004009 Reperfusion Injury ISO RGD:2037 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampal granule cell PMID:19647005|REF_RGD_ID:2315956 8718744 Adcyap1 adenylate cyclase activating polypeptide 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8718744 Adcyap1 adenylate cyclase activating polypeptide 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2037 D RGD:9068941 20200609 RGD protein:increased expression:pancreas, hypothalamus PMID:9864055|REF_RGD_ID:2325314 8718744 Adcyap1 adenylate cyclase activating polypeptide 1 gene DOID:9009039 Hyperemia ISO RGD:732730 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8637627 8718756 Fgd2 FYVE, RhoGEF and PH domain containing 2 gene DOID:0080600 COVID-19 ISO RGD:1320399 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8718756 Fgd2 FYVE, RhoGEF and PH domain containing 2 gene DOID:10283 prostate cancer ISO RGD:1320399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8718756 Fgd2 FYVE, RhoGEF and PH domain containing 2 gene DOID:5119 ovarian cyst ISO RGD:1320399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 8718847 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1348865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8718847 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:0060009 MHC class I deficiency ISO RGD:1348865 D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: BLS, TYPE I | ClinVar Annotator: match by term: MHC class I deficiency PMID:10560675|PMID:11529920|PMID:12067308|PMID:1570316|PMID:16199547|PMID:17576681|PMID:23662797|PMID:24033266|PMID:25741868|PMID:26122175|PMID:28492532|PMID:36229627|PMID:7517574|PMID:9536098 8718847 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:0060704 lymphoproliferative syndrome susceptibility ISO RGD:1348865 D RGD:9068941 20200609 RGD DNA:nonsense mutation PMID:10560675|REF_RGD_ID:1601413 8718847 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:0060913 proteosome-associated autoinflammatory syndrome ISO RGD:1348865 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Proteosome-associated autoinflammatory syndrome PMID:11529920|PMID:12067308|PMID:23662797|PMID:28492532|PMID:7517574 8718847 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:0080822 aspirin-induced respiratory disease ISO RGD:1348865 D RGD:9068941 20200609 RGD PMID:21796142|REF_RGD_ID:5147839 8718847 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:1025 tuberculoid leprosy susceptibility ISO RGD:1348865 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:9062973|REF_RGD_ID:5147851 8718847 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:10316 pneumoconiosis ISO RGD:1348865 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35506645 8718847 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:1348865 D RGD:9068941 20200609 RGD DNA:SNP: :(rs241448)(human) PMID:16595160|REF_RGD_ID:6482265 8718847 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:12206 dengue hemorrhagic fever susceptibility ISO RGD:1348865 D RGD:9068941 20200609 RGD DNA:SNPs: : PMID:18071882|REF_RGD_ID:6482261 8718847 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:1577 limited scleroderma susceptibility ISO RGD:1348865 D RGD:9068941 20200609 RGD PMID:16112028|REF_RGD_ID:1578361 8718847 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:1580 diffuse scleroderma susceptibility ISO RGD:1348865 D RGD:9068941 20200609 RGD PMID:16112028|REF_RGD_ID:1578361 8718847 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:2377 multiple sclerosis ISO RGD:1348865 D RGD:9068941 20200609 RGD DNA:SNPs:CDs:p.V379I, A565T(human) PMID:7928442|REF_RGD_ID:6482280 8718847 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:2377 multiple sclerosis no_association ISO RGD:1348865 D RGD:9068941 20200609 RGD DNA:SNPs:CDs:p.V379I, A565T(human) PMID:7797617|REF_RGD_ID:6482281 8718847 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:2377 multiple sclerosis susceptibility ISO RGD:1348865 D RGD:9068941 20200609 RGD DNA:synonymous mutation: : PMID:7759306|REF_RGD_ID:6482279 8718847 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:2893 cervix carcinoma susceptibility ISO RGD:1348865 D RGD:9068941 20200609 RGD DNA:SNP: :(rs4148876)(human) PMID:17366619|REF_RGD_ID:6482264 8718847 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:1348865 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:9062973|REF_RGD_ID:5147851 8718847 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:3042 allergic contact dermatitis susceptibility ISO RGD:1348865 D RGD:9068941 20200609 RGD PMID:9303338|REF_RGD_ID:6482276 8718847 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1348865 D RGD:9068941 20200609 RGD protein:decreased expression:esophagus PMID:19492245|REF_RGD_ID:6482249 8718847 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:4362 cervical cancer ISO RGD:1348865 D RGD:9068941 20200609 RGD DNA:SNPs: : PMID:18248301|REF_RGD_ID:6482260 8718847 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:4362 cervical cancer susceptibility ISO RGD:1348865 D RGD:9068941 20200609 RGD DNA:SNPs: : PMID:12648582|REF_RGD_ID:6482272 8718847 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:6196 reactive arthritis ISO RGD:1348865 D RGD:9068941 20200609 RGD PMID:7748224|REF_RGD_ID:6482278 8718847 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:630 genetic disease ISO RGD:1348865 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8718847 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:7147 ankylosing spondylitis ISO RGD:1348865 D RGD:9068941 20200609 RGD DNA:SNPs: : PMID:19480848|REF_RGD_ID:6482250 8718847 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:7148 rheumatoid arthritis ISO RGD:1348865 D RGD:9068941 20200609 RGD PMID:9645419|REF_RGD_ID:6482275 8718847 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:8893 psoriasis susceptibility ISO RGD:1348865 D RGD:9068941 20200609 RGD DNA:SNPs:CDs:p.T665A, Q687Q(human) PMID:17581627|REF_RGD_ID:6482263 8718847 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8718847 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:9006078 MHC CLASS I DEFICIENCY 2 ISO RGD:1348865 D RGD:7240710 20240619 OMIM 8718847 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:9006078 MHC CLASS I DEFICIENCY 2 ISO RGD:1348865 D RGD:8554872 20240625 ClinVar ClinVar Annotator: match by term: MHC class I deficiency 2 | ClinVar Annotator: match by term: TAP2-related condition PMID:11529920|PMID:12067308|PMID:23662797|PMID:24033266|PMID:25741868|PMID:28492532|PMID:36229627|PMID:7517574 8718847 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:9007425 Diffuse Panbronchiolitis susceptibility ISO RGD:1348865 D RGD:9068941 20200609 RGD DNA:polymorphisms:exon: PMID:10323341|REF_RGD_ID:5147847 8718847 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:9074 systemic lupus erythematosus no_association ISO RGD:1348865 D RGD:9068941 20200609 RGD PMID:9014588|REF_RGD_ID:6482277 8718847 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:1348865 D RGD:9068941 20200609 RGD PMID:12634240|REF_RGD_ID:6482273 8718847 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:9744 type 1 diabetes mellitus ISO RGD:1348865 D RGD:9068941 20200609 RGD PMID:1300236|PMID:17192492|REF_RGD_ID:2312368|REF_RGD_ID:2312373 8718879 Stx18 syntaxin 18 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1320740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 8718908 Rnf181 ring finger protein 181 gene DOID:0110782 hereditary spastic paraplegia 31 ISO RGD:1602715 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 PMID:18321925|PMID:18644145|PMID:22062632|PMID:22703882|PMID:24986827|PMID:28492532 8718917 Lims2 LIM zinc finger domain containing 2 gene DOID:0110288 autosomal recessive limb-girdle muscular dystrophy type 2W ISO RGD:1313204 D RGD:7240710 20190315 OMIM 8718917 Lims2 LIM zinc finger domain containing 2 gene DOID:0110288 autosomal recessive limb-girdle muscular dystrophy type 2W ISO RGD:1313204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2W | ClinVar Annotator: match by term: Muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue | ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 2W PMID:16199547|PMID:17576681|PMID:25589244|PMID:25741868|PMID:28492532|PMID:9536098 8718917 Lims2 LIM zinc finger domain containing 2 gene DOID:0111220 centronuclear myopathy 2 ISO RGD:1313204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, centronuclear, 2 PMID:28492532 8718917 Lims2 LIM zinc finger domain containing 2 gene DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency ISO RGD:1313204 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant PMID:17152060|PMID:28492532|PMID:3185623 8718917 Lims2 LIM zinc finger domain containing 2 gene DOID:1227 neutropenia ISO RGD:1313204 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neutropenia 8718955 Dao D-amino acid oxidase gene DOID:12849 autistic disorder ISO RGD:1350103 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17629951 8718955 Dao D-amino acid oxidase gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1350103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Charcot disease PMID:25741868 8718955 Dao D-amino acid oxidase gene DOID:5419 schizophrenia ISO RGD:1350103 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18583979 8718955 Dao D-amino acid oxidase gene DOID:5419 schizophrenia susceptibility ISO RGD:1350103 D RGD:9068941 20200806 RGD DNA:SNPs: : PMID:14966479|REF_RGD_ID:1358627 8718955 Dao D-amino acid oxidase gene DOID:630 genetic disease ISO RGD:1350103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8718955 Dao D-amino acid oxidase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1350103 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8718979 Edem1 ER degradation enhancing alpha-mannosidase like protein 1 gene DOID:0060478 Zika fever ISO RGD:1557813 D RGD:9068941 20200702 RGD mRNA:increased expression:brain PMID:30241539|REF_RGD_ID:32733625 8718979 Edem1 ER degradation enhancing alpha-mannosidase like protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8718979 Edem1 ER degradation enhancing alpha-mannosidase like protein 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1349759 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 8718994 Fra10ac1 fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1 gene DOID:0060748 familial temporal lobe epilepsy 1 ISO RGD:1319845 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 PMID:24206907|PMID:28492532 8718994 Fra10ac1 fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1 gene DOID:630 genetic disease ISO RGD:1319845 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8718994 Fra10ac1 fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1 gene DOID:9000628 Neurodevelopmental Disorder with Growth Retardation, Dysmorphic Facies, and Corpus Callosum Abnormalities ISO RGD:1319845 D RGD:7240710 20221123 OMIM 8718994 Fra10ac1 fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1 gene DOID:9000628 Neurodevelopmental Disorder with Growth Retardation, Dysmorphic Facies, and Corpus Callosum Abnormalities ISO RGD:1319845 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities PMID:25741868|PMID:34694367|PMID:35821753|PMID:35871492 8719040 Gpr22 G protein-coupled receptor 22 gene DOID:0070261 congenital disorder of glycosylation type IIi ISO RGD:1321987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: COG5-congenital disorder of glycosylation PMID:23228021|PMID:28492532 8719040 Gpr22 G protein-coupled receptor 22 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1321987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8719051 Ca3 carbonic anhydrase 3 gene DOID:0070508 metabolic dysfunction and alcohol associated liver disease ISO RGD:2241 D RGD:9068941 20241121 RGD mRNA,protein:decreased expression:cytosol,liver PMID:23083309|REF_RGD_ID:408425974 8719051 Ca3 carbonic anhydrase 3 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:2241 D RGD:9068941 20241121 RGD protein:increased expression:liver PMID:35108454|REF_RGD_ID:408426003 8719051 Ca3 carbonic anhydrase 3 gene DOID:10316 pneumoconiosis ISO RGD:1353547 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25445010 8719051 Ca3 carbonic anhydrase 3 gene DOID:12528 lesion of sciatic nerve treatment ISO RGD:2241 D RGD:9068941 20241121 RGD PMID:7969243|REF_RGD_ID:408427352 8719051 Ca3 carbonic anhydrase 3 gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:2241 D RGD:9068941 20241121 RGD protein:decreased expression:cytosol PMID:25684186|REF_RGD_ID:408418736 8719051 Ca3 carbonic anhydrase 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1332219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8719051 Ca3 carbonic anhydrase 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1353547 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 8719051 Ca3 carbonic anhydrase 3 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1332219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11420682 8719051 Ca3 carbonic anhydrase 3 gene DOID:9006302 Binge Drinking ISO RGD:2241 D RGD:9068941 20241121 RGD associated with Alcoholic Liver Diseases;protein:decreased expression:liver PMID:22545783|REF_RGD_ID:7495839 8719051 Ca3 carbonic anhydrase 3 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1332219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 8719051 Ca3 carbonic anhydrase 3 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1353547 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 8719051 Ca3 carbonic anhydrase 3 gene DOID:9452 steatotic liver disease ISO RGD:1332219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 8719051 Ca3 carbonic anhydrase 3 gene DOID:9970 obesity ISO RGD:1353547 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 8719051 Ca3 carbonic anhydrase 3 gene DOID:9970 obesity ISO RGD:2241 D RGD:9068941 20241121 RGD protein:decreased expression:adipocyte PMID:8476041|REF_RGD_ID:408426009 8719062 Slc66a3 solute carrier family 66 member 3 gene DOID:5419 schizophrenia ISO RGD:1315648 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8719062 Slc66a3 solute carrier family 66 member 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1315648 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8719062 Slc66a3 solute carrier family 66 member 3 gene DOID:9007188 Liver Neoplasms ISO RGD:1315648 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:25058030 8719081 C3 complement C3 gene DOID:0050696 fetal alcohol spectrum disorder ISO RGD:2232 D RGD:9068941 20241114 RGD protein:increased activity:blood PMID:30657461|REF_RGD_ID:408418720 8719081 C3 complement C3 gene DOID:0060284 paroxysmal nocturnal hemoglobinuria ISO RGD:735504 D RGD:9068941 20200609 RGD protein:increased processing:erythrocyte PMID:6915939|REF_RGD_ID:11040769 8719081 C3 complement C3 gene DOID:0070508 metabolic dysfunction and alcohol associated liver disease ameliorates ISO RGD:10256 D RGD:9068941 20241114 RGD PMID:17321001|REF_RGD_ID:408418721 8719081 C3 complement C3 gene DOID:0070508 metabolic dysfunction and alcohol associated liver disease severity ISO RGD:2232 D RGD:9068941 20241114 RGD PMID:36653797|REF_RGD_ID:408395146 8719081 C3 complement C3 gene DOID:0080162 lupus nephritis ISO RGD:735504 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:21888025|REF_RGD_ID:7175544 8719081 C3 complement C3 gene DOID:0080162 lupus nephritis ISO RGD:735504 D RGD:9068941 20220210 CTD CTD Direct Evidence: marker/mechanism PMID:31182691 8719081 C3 complement C3 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:735504 D RGD:7240710 20250312 OMIM 8719081 C3 complement C3 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:735504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome PMID:14639503|PMID:17634448|PMID:18325906|PMID:18796626|PMID:19168221|PMID:19590060|PMID:1976733|PMID:20301541|PMID:20595690|PMID:21125405|PMID:23307876|PMID:23314101|PMID:23431077|PMID:24036949|PMID:24036950|PMID:24036952|PMID:24736606|PMID:24845532|PMID:25188723|PMID:25608561|PMID:25741868|PMID:25951460|PMID:26283675|PMID:26613027|PMID:28492532|PMID:28596415|PMID:29566171|PMID:29888403|PMID:30046676|PMID:30131807|PMID:30773290|PMID:32950058|PMID:33213850 8719081 C3 complement C3 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:735504 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome PMID:14639503|PMID:17634448|PMID:18325906|PMID:18796626|PMID:19168221|PMID:19590060|PMID:1976733|PMID:20203157|PMID:20301541|PMID:20595690|PMID:21125405|PMID:22246034|PMID:22669319|PMID:23307876|PMID:23314101|PMID:23431077|PMID:24036949|PMID:24036950|PMID:24036952|PMID:24736606|PMID:24845532|PMID:25188723|PMID:25608561|PMID:25741868|PMID:25879158|PMID:25951460|PMID:26283675|PMID:26559391|PMID:26613027|PMID:28187980|PMID:28492532|PMID:28596415|PMID:29500241|PMID:29566171|PMID:29888403|PMID:30046676|PMID:30131807|PMID:30773290|PMID:30890598|PMID:31865800|PMID:32265146|PMID:32342491|PMID:32950058|PMID:33213850 8719081 C3 complement C3 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:735504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 PMID:14639503|PMID:17634448|PMID:18325906|PMID:18796626|PMID:19168221|PMID:19590060|PMID:1976733|PMID:20203157|PMID:20301541|PMID:20595690|PMID:21125405|PMID:22246034|PMID:22669319|PMID:23307876|PMID:23314101|PMID:23431077|PMID:24036949|PMID:24036950|PMID:24036952|PMID:24736606|PMID:24845532|PMID:25188723|PMID:25608561|PMID:25741868|PMID:25879158|PMID:25951460|PMID:26283675|PMID:26559391|PMID:26613027|PMID:28187980|PMID:28492532|PMID:28596415|PMID:28752844|PMID:29500241|PMID:29566171|PMID:29888403|PMID:30046676|PMID:30131807|PMID:30773290|PMID:30890598|PMID:31865800|PMID:32265146|PMID:32342491|PMID:32424742|PMID:32950058|PMID:33213850|PMID:33456446|PMID:33609329|PMID:34169201 8719081 C3 complement C3 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:735504 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 PMID:14639503|PMID:17634448|PMID:18325906|PMID:18796626|PMID:19168221|PMID:19590060|PMID:1976733|PMID:20203157|PMID:20301541|PMID:20595690|PMID:21810760|PMID:22246034|PMID:22669319|PMID:23307876|PMID:23314101|PMID:23431077|PMID:24036949|PMID:24036950|PMID:24036952|PMID:24736606|PMID:24845532|PMID:25608561|PMID:25741868|PMID:25879158|PMID:25951460|PMID:26283675|PMID:26559391|PMID:26613027|PMID:28187980|PMID:28492532|PMID:28596415|PMID:28752844|PMID:28939980|PMID:29500241|PMID:29566171|PMID:29670616|PMID:29888403|PMID:30046676|PMID:30131807|PMID:30377230|PMID:30773290|PMID:30890598|PMID:31865800|PMID:32265146|PMID:32342491|PMID:32424742|PMID:32950058|PMID:33213850|PMID:33456446|PMID:33609329|PMID:34169201|PMID:34631043|PMID:35295324 8719081 C3 complement C3 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:735504 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome PMID:14639503|PMID:17634448|PMID:18325906|PMID:18796626|PMID:19168221|PMID:19590060|PMID:1976733|PMID:20203157|PMID:20301541|PMID:20595690|PMID:21810760|PMID:22246034|PMID:22669319|PMID:23307876|PMID:23314101|PMID:23431077|PMID:23847193|PMID:24029428|PMID:24036949|PMID:24036950|PMID:24036952|PMID:24736606|PMID:24845532|PMID:25608561|PMID:25741868|PMID:25879158|PMID:25951460|PMID:26283675|PMID:26559391|PMID:26613027|PMID:28187980|PMID:28492532|PMID:28596415|PMID:28752844|PMID:28939980|PMID:29500241|PMID:29566171|PMID:29670616|PMID:29888403|PMID:30046676|PMID:30131807|PMID:30377230|PMID:30773290|PMID:30890598|PMID:31865800|PMID:32265146|PMID:32342491|PMID:32424742|PMID:32950058|PMID:33213850|PMID:33456446|PMID:33609329|PMID:34169201|PMID:34631043|PMID:34714369|PMID:34973142|PMID:35295324 8719081 C3 complement C3 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:735504 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: CD46-related condition | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome PMID:12462331|PMID:14639503|PMID:17576681|PMID:17634448|PMID:18325906|PMID:18796626|PMID:19168221|PMID:19590060|PMID:1976733|PMID:20047980|PMID:20203157|PMID:20301541|PMID:20595690|PMID:21501302|PMID:21810760|PMID:22246034|PMID:22669319|PMID:23307876|PMID:23314101|PMID:23431077|PMID:23847193|PMID:24029428|PMID:24036949|PMID:24036950|PMID:24036952|PMID:24736606|PMID:24845532|PMID:25608561|PMID:25741868|PMID:25879158|PMID:25951460|PMID:26283675|PMID:26559391|PMID:26613027|PMID:28187980|PMID:28492532|PMID:28596415|PMID:28614243|PMID:28752844|PMID:28939980|PMID:29500241|PMID:29566171|PMID:29670616|PMID:29888403|PMID:30046676|PMID:30131807|PMID:30377230|PMID:30662780|PMID:30773290|PMID:30890598|PMID:31865800|PMID:32265146|PMID:32342491|PMID:32424742|PMID:32950058|PMID:33213850|PMID:33456446|PMID:33609329|PMID:34169201|PMID:34631043|PMID:34714369|PMID:34973142|PMID:35295324|PMID:9536098 8719081 C3 complement C3 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:735504 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 PMID:12462331|PMID:14639503|PMID:16385454|PMID:17576681|PMID:17634448|PMID:18325906|PMID:1879662|PMID:18796626|PMID:19168221|PMID:19590060|PMID:1976733|PMID:20016463|PMID:20047980|PMID:20203157|PMID:20301500|PMID:20301541|PMID:20595690|PMID:21501302|PMID:21810760|PMID:22246034|PMID:22594991|PMID:22669319|PMID:22673887|PMID:23307876|PMID:23314101|PMID:23431077|PMID:23847193|PMID:24029428|PMID:24036949|PMID:24036950|PMID:24036952|PMID:24736606|PMID:24845532|PMID:25188723|PMID:25608561|PMID:25741868|PMID:25879158|PMID:25951460|PMID:26283675|PMID:26559391|PMID:26613027|PMID:26767664|PMID:26830967|PMID:27814381|PMID:28011711|PMID:28187980|PMID:28492532|PMID:28596415|PMID:28614243|PMID:28752844|PMID:28939980|PMID:29410599|PMID:29500241|PMID:29566171|PMID:29670616|PMID:29888403|PMID:30046676|PMID:30131807|PMID:30377230|PMID:30662780|PMID:30773290|PMID:30890598|PMID:31865800|PMID:32265146|PMID:32342491|PMID:32424742|PMID:32950058|PMID:33213850|PMID:33456446|PMID:33609329|PMID:34169201|PMID:34631043|PMID:34714369|PMID:34748552|PMID:34973142|PMID:35295324|PMID:35373096|PMID:9536098 8719081 C3 complement C3 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:735504 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 PMID:12462331|PMID:14639503|PMID:17576681|PMID:17634448|PMID:18325906|PMID:1879662|PMID:18796626|PMID:19168221|PMID:19590060|PMID:1976733|PMID:20016463|PMID:20047980|PMID:20203157|PMID:20301541|PMID:20595690|PMID:21501302|PMID:21810760|PMID:22246034|PMID:22594991|PMID:22669319|PMID:22673887|PMID:23307876|PMID:23314101|PMID:23431077|PMID:23847193|PMID:24029428|PMID:24036949|PMID:24036950|PMID:24036952|PMID:24736606|PMID:24845532|PMID:25188723|PMID:25608561|PMID:25741868|PMID:25879158|PMID:25951460|PMID:26283675|PMID:26559391|PMID:26613027|PMID:26767664|PMID:26830967|PMID:27814381|PMID:28011711|PMID:28187980|PMID:28492532|PMID:28596415|PMID:28614243|PMID:28752844|PMID:28939980|PMID:29410599|PMID:29500241|PMID:29566171|PMID:29670616|PMID:29888403|PMID:30046676|PMID:30131807|PMID:30377230|PMID:30662780|PMID:30773290|PMID:30890598|PMID:31865800|PMID:32265146|PMID:32342491|PMID:32424742|PMID:32950058|PMID:33213850|PMID:33456446|PMID:33609329|PMID:34169201|PMID:34631043|PMID:34714369|PMID:34748552|PMID:34973142|PMID:35295324|PMID:35373096|PMID:7961791|PMID:9536098 8719081 C3 complement C3 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:735504 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 PMID:12462331|PMID:14639503|PMID:17576681|PMID:17634448|PMID:18325906|PMID:1879662|PMID:18796626|PMID:19168221|PMID:19590060|PMID:1976733|PMID:20016463|PMID:20047980|PMID:20203157|PMID:20301541|PMID:20595690|PMID:21501302|PMID:21810760|PMID:22246034|PMID:22594991|PMID:22669319|PMID:22673887|PMID:23307876|PMID:23314101|PMID:23431077|PMID:23847193|PMID:24029428|PMID:24036949|PMID:24036950|PMID:24036952|PMID:24736606|PMID:24845532|PMID:25188723|PMID:25608561|PMID:25741868|PMID:25879158|PMID:25951460|PMID:26283675|PMID:26559391|PMID:26613027|PMID:26767664|PMID:26830967|PMID:27814381|PMID:28011711|PMID:28187980|PMID:28492532|PMID:28596415|PMID:28614243|PMID:28752844|PMID:28939980|PMID:29410599|PMID:29500241|PMID:29566171|PMID:29670616|PMID:29888403|PMID:30046676|PMID:30131807|PMID:30377230|PMID:30662780|PMID:30773290|PMID:30890598|PMID:31865800|PMID:32265146|PMID:32342491|PMID:32424742|PMID:32950058|PMID:33213850|PMID:33456446|PMID:33609329|PMID:34169201|PMID:34631043|PMID:34714369|PMID:34748552|PMID:34973142|PMID:35295324|PMID:35372954|PMID:35373096|PMID:37369098|PMID:37466676|PMID:7961791|PMID:9536098 8719081 C3 complement C3 gene DOID:0080490 mucolipidosis type IV ISO RGD:735504 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 8719081 C3 complement C3 gene DOID:0080600 COVID-19 severity ISO RGD:735504 D RGD:9068941 20200625 RGD protein:increased expression:serum (human) PMID:32434211|REF_RGD_ID:30310238 8719081 C3 complement C3 gene DOID:0080600 COVID-19 severity ISO RGD:735504 D RGD:9068941 20200813 RGD DNA:SNPs: :rs1047286,rs2230203,rs2230199(human) PMID:32747830|REF_RGD_ID:38500238 8719081 C3 complement C3 gene DOID:0080750 erythema nodosum ISO RGD:735504 D RGD:9068941 20200609 RGD associated with Leprosy PMID:2783924|REF_RGD_ID:7421527 8719081 C3 complement C3 gene DOID:0110019 age related macular degeneration 7 ISO RGD:735504 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype: :multiple PMID:19899988|REF_RGD_ID:7401252 8719081 C3 complement C3 gene DOID:0110021 age related macular degeneration 9 ISO RGD:735504 D RGD:7240710 20250312 OMIM 8719081 C3 complement C3 gene DOID:0110021 age related macular degeneration 9 ISO RGD:735504 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Age related macular degeneration 9 | ClinVar Annotator: match by term: MACULAR DEGENERATION, AGE-RELATED, 9, SUSCEPTIBILITY TO PMID:12462331|PMID:14639503|PMID:16687714|PMID:17576681|PMID:17634448|PMID:17767156|PMID:18325906|PMID:18796626|PMID:19168221|PMID:19259132|PMID:19590060|PMID:1976733|PMID:20595690|PMID:20664795|PMID:21501302|PMID:21576320|PMID:21810760|PMID:22594991|PMID:22669319|PMID:22673887|PMID:22718507|PMID:23112567|PMID:23307876|PMID:23314101|PMID:23431077|PMID:23455636|PMID:23847193|PMID:24029428|PMID:24036949|PMID:24036950|PMID:24036952|PMID:24736606|PMID:24845532|PMID:25188723|PMID:25431709|PMID:25608561|PMID:25741868|PMID:25951460|PMID:26283675|PMID:26559391|PMID:26613027|PMID:26767664|PMID:26830967|PMID:27722136|PMID:28011711|PMID:28492532|PMID:28596415|PMID:28752844|PMID:28939980|PMID:29410599|PMID:29500241|PMID:29566171|PMID:29670616|PMID:29888403|PMID:30046676|PMID:30131807|PMID:30377230|PMID:30890598|PMID:31042289|PMID:31440263|PMID:32424742|PMID:32950058|PMID:33213850|PMID:33609329|PMID:34169201|PMID:34631043|PMID:34714369|PMID:34748552|PMID:34973142|PMID:35295324|PMID:35372954|PMID:35373096|PMID:35685318|PMID:37369098|PMID:37466676|PMID:7870343|PMID:9536098 8719081 C3 complement C3 gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:10256 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, increased activity:kidney PMID:17960140|REF_RGD_ID:7175542 8719081 C3 complement C3 gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:735504 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, increased activity:kidney PMID:17960140|REF_RGD_ID:7175542 8719081 C3 complement C3 gene DOID:0111128 focal segmental glomerulosclerosis 1 ISO RGD:735504 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal sclerosis with hyalinosis PMID:17634448|PMID:18325906|PMID:19168221|PMID:1976733|PMID:25741868|PMID:28492532 8719081 C3 complement C3 gene DOID:10140 dry eye syndrome severity ISO RGD:735504 D RGD:9068941 20241114 RGD PMID:28918083|REF_RGD_ID:408395145 8719081 C3 complement C3 gene DOID:10247 pleurisy ISO RGD:10256 D RGD:9068941 20200609 RGD protein:increased activity:pleural cavity PMID:18256172|REF_RGD_ID:5129520 8719081 C3 complement C3 gene DOID:10325 silicosis ISO RGD:735504 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:12096683|REF_RGD_ID:5129516 8719081 C3 complement C3 gene DOID:10591 pre-eclampsia treatment ISO RGD:2232 D RGD:9068941 20200609 RGD PMID:23685261|REF_RGD_ID:7411624 8719081 C3 complement C3 gene DOID:10652 Alzheimer's disease ISO RGD:735504 D RGD:9068941 20200609 RGD DNA:SNP: :rs22300199 (human) PMID:22300950|REF_RGD_ID:7401250 8719081 C3 complement C3 gene DOID:10690 mastitis ISO RGD:10256 D RGD:9068941 20200609 RGD PMID:8746955|REF_RGD_ID:7401278 8719081 C3 complement C3 gene DOID:10754 otitis media IDA D RGD:11554035|PMID:19139190 20161019 RGD 8719081 C3 complement C3 gene DOID:10763 hypertension ISO RGD:2232 D RGD:9068941 20200609 RGD PMID:22416803|REF_RGD_ID:11040890 8719081 C3 complement C3 gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:735504 D RGD:9068941 20200609 RGD DNA:SNP: :rs2241394 (human) PMID:22174912|REF_RGD_ID:7401249 8719081 C3 complement C3 gene DOID:10887 lepromatous leprosy severity ISO RGD:735504 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:6342123|REF_RGD_ID:7411735 8719081 C3 complement C3 gene DOID:10923 sickle cell anemia severity ISO RGD:735504 D RGD:9068941 20200609 RGD PMID:3896597|REF_RGD_ID:11040777 8719081 C3 complement C3 gene DOID:10923 sickle cell anemia severity ISO RGD:735504 D RGD:9068941 20200609 RGD protein:increased processing PMID:7554454|REF_RGD_ID:11040773 8719081 C3 complement C3 gene DOID:10976 membranous glomerulonephritis ISO RGD:2232 D RGD:9068941 20200609 RGD PMID:10729746|REF_RGD_ID:5129563 8719081 C3 complement C3 gene DOID:10976 membranous glomerulonephritis ISO RGD:735504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25954969 8719081 C3 complement C3 gene DOID:11123 IgA vasculitis ISO RGD:735504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1353212 8719081 C3 complement C3 gene DOID:11339 pneumocystosis ISO RGD:2232 D RGD:9068941 20200609 RGD PMID:17169032|REF_RGD_ID:5129525 8719081 C3 complement C3 gene DOID:11394 adult respiratory distress syndrome ISO RGD:735504 D RGD:9068941 20200609 RGD protein:increased activation:respiratory system fluid/secretion PMID:3826891|REF_RGD_ID:5130153 8719081 C3 complement C3 gene DOID:11394 adult respiratory distress syndrome ISO RGD:735504 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:2784515|REF_RGD_ID:5129694 8719081 C3 complement C3 gene DOID:11446 sciatic neuropathy ISO RGD:2232 D RGD:9068941 20200609 RGD protein:increased expression:sciatic nerve PMID:18052971|REF_RGD_ID:5129535 8719081 C3 complement C3 gene DOID:11446 sciatic neuropathy ISO RGD:2232 D RGD:9068941 20241128 RGD PMID:1799436|REF_RGD_ID:408427358 8719081 C3 complement C3 gene DOID:11555 Fuchs' endothelial dystrophy ISO RGD:735504 D RGD:9068941 20200609 RGD protein:decreased expression:aqueous humour PMID:21139973|REF_RGD_ID:7401271 8719081 C3 complement C3 gene DOID:12134 factor VIII deficiency ISO RGD:735504 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:6912882|REF_RGD_ID:11041156 8719081 C3 complement C3 gene DOID:12306 vitiligo ISO RGD:10256 D RGD:9068941 20200609 RGD PMID:12121667|REF_RGD_ID:7401277 8719081 C3 complement C3 gene DOID:1289 neurodegenerative disease ISO RGD:2232 D RGD:9068941 20241116 RGD mRNA,protein:increased expression:neuron, glial PMID:27769255|REF_RGD_ID:408418724 8719081 C3 complement C3 gene DOID:12894 Sjogren's syndrome ISO RGD:10256 D RGD:9068941 20200609 RGD PMID:17675493|REF_RGD_ID:7401265 8719081 C3 complement C3 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:735504 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:16687714|PMID:17634448|PMID:17767156|PMID:18325906|PMID:19168221|PMID:19259132|PMID:1976733|PMID:20664795|PMID:21576320|PMID:22718507|PMID:23112567|PMID:23455636|PMID:25741868|PMID:28492532|PMID:7870343 8719081 C3 complement C3 gene DOID:13406 pulmonary sarcoidosis ISO RGD:735504 D RGD:9068941 20200609 RGD protein:altered expression:lung PMID:18069416|REF_RGD_ID:5129502 8719081 C3 complement C3 gene DOID:14018 alcoholic liver cirrhosis ISO RGD:735504 D RGD:9068941 20241114 RGD PMID:9176087|REF_RGD_ID:408418722 8719081 C3 complement C3 gene DOID:1407 anterior uveitis ISO RGD:2232 D RGD:9068941 20200609 RGD protein:increased expression:eye anterior chamber, ciliary body, iris PMID:16751365|REF_RGD_ID:1600478 8719081 C3 complement C3 gene DOID:1407 anterior uveitis ISO RGD:735504 D RGD:9068941 20200609 RGD PMID:6610667|REF_RGD_ID:7411736 8719081 C3 complement C3 gene DOID:14095 boutonneuse fever ISO RGD:735504 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:3361150|REF_RGD_ID:11041575 8719081 C3 complement C3 gene DOID:1909 melanoma treatment ISO RGD:10256 D RGD:9068941 20200609 RGD PMID:17146472|REF_RGD_ID:7401279 8719081 C3 complement C3 gene DOID:224 transient cerebral ischemia ISO RGD:735504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23199288 8719081 C3 complement C3 gene DOID:224 transient cerebral ischemia treatment ISO RGD:2232 D RGD:9068941 20200609 RGD PMID:22004711|REF_RGD_ID:7411628 8719081 C3 complement C3 gene DOID:2316 brain ischemia ISO RGD:2232 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:14561876|REF_RGD_ID:5129543 8719081 C3 complement C3 gene DOID:2452 thrombophilia treatment ISO RGD:10256 D RGD:9068941 20200609 RGD PMID:15986360|REF_RGD_ID:11040779 8719081 C3 complement C3 gene DOID:2559 opiate dependence ISO RGD:735504 D RGD:9068941 20241114 RGD protein:increased expression:serum PMID:23850638|REF_RGD_ID:408395144 8719081 C3 complement C3 gene DOID:2841 asthma ISO RGD:10256 D RGD:9068941 20200609 RGD PMID:11591733|REF_RGD_ID:5129517 8719081 C3 complement C3 gene DOID:2841 asthma ISO RGD:10256 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:20802484|REF_RGD_ID:5129681 8719081 C3 complement C3 gene DOID:2841 asthma ISO RGD:735504 D RGD:9068941 20200609 RGD PMID:20402389|REF_RGD_ID:5129537 8719081 C3 complement C3 gene DOID:2841 asthma ISO RGD:735504 D RGD:9068941 20200609 RGD DNA:SNP: :4896C>T (human) PMID:15278436|REF_RGD_ID:5129512 8719081 C3 complement C3 gene DOID:2841 asthma ISO RGD:735504 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs11569562 (human) PMID:18566738|REF_RGD_ID:5129501 8719081 C3 complement C3 gene DOID:2841 asthma ISO RGD:735504 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:16355111|REF_RGD_ID:5129505 8719081 C3 complement C3 gene DOID:2841 asthma ISO RGD:735504 D RGD:9068941 20200609 RGD Interaction with IL4RA PMID:20395963|REF_RGD_ID:5129538 8719081 C3 complement C3 gene DOID:2841 asthma severity ISO RGD:735504 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20589464|REF_RGD_ID:5129519 8719081 C3 complement C3 gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:735504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mesangiocapillary glomerulonephritis PMID:32581362 8719081 C3 complement C3 gene DOID:2921 glomerulonephritis ISO RGD:2232 D RGD:9068941 20200609 RGD PMID:11950907|REF_RGD_ID:5129550 8719081 C3 complement C3 gene DOID:2957 pulmonary tuberculosis ISO RGD:735504 D RGD:9068941 20200609 RGD PMID:19472039|REF_RGD_ID:5129500 8719081 C3 complement C3 gene DOID:2986 IgA glomerulonephritis ISO RGD:735504 D RGD:9068941 20200609 RGD mRNA,protein:increased expression, increased activity:kidney PMID:11287758|REF_RGD_ID:7175543 8719081 C3 complement C3 gene DOID:3021 acute kidney failure ISO RGD:735504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 8719081 C3 complement C3 gene DOID:3070 high grade glioma treatment ISO RGD:10256 D RGD:9068941 20200609 RGD PMID:21678475|REF_RGD_ID:7401275 8719081 C3 complement C3 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:735504 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:17975205|REF_RGD_ID:5129504 8719081 C3 complement C3 gene DOID:321 HTLV-1-associated myelopathy/tropical spastic paraparesis ISO RGD:735504 D RGD:9068941 20200609 RGD protein:increased processing:plasma PMID:7561187|REF_RGD_ID:11040775 8719081 C3 complement C3 gene DOID:3310 atopic dermatitis ISO RGD:735504 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:3923750|REF_RGD_ID:7401273 8719081 C3 complement C3 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:2232 D RGD:9068941 20200609 RGD PMID:19050293|REF_RGD_ID:5130169 8719081 C3 complement C3 gene DOID:3324 mood disorder ISO RGD:735504 D RGD:9068941 20241114 RGD PMID:17321106|REF_RGD_ID:408418723 8719081 C3 complement C3 gene DOID:3525 middle cerebral artery infarction ISO RGD:2232 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:22103620|REF_RGD_ID:7175514 8719081 C3 complement C3 gene DOID:3525 middle cerebral artery infarction ISO RGD:735504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23199288 8719081 C3 complement C3 gene DOID:418 systemic scleroderma ISO RGD:735504 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:2803327|REF_RGD_ID:7421518 8719081 C3 complement C3 gene DOID:4448 macular degeneration ISO RGD:735504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular degeneration PMID:25741868|PMID:28492532 8719081 C3 complement C3 gene DOID:4483 rhinitis ISO RGD:2232 D RGD:9068941 20200609 RGD mRNA:increased expression:nasal cavity epithelium PMID:17345707|REF_RGD_ID:5129524 8719081 C3 complement C3 gene DOID:4483 rhinitis ISO RGD:735504 D RGD:9068941 20200609 RGD PMID:20109314|REF_RGD_ID:5129539 8719081 C3 complement C3 gene DOID:5162 arteriolosclerosis ISO RGD:735504 D RGD:9068941 20200609 RGD associated with Renal Insufficiency, Chronic; protein:increased expression:serum: PMID:22863782|REF_RGD_ID:7175516 8719081 C3 complement C3 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:735504 D RGD:9068941 20200609 RGD PMID:7561187|REF_RGD_ID:11040775 8719081 C3 complement C3 gene DOID:5426 primary ovarian insufficiency ISO RGD:735504 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868|PMID:28492532|PMID:31042289 8719081 C3 complement C3 gene DOID:552 pneumonia ISO RGD:2232 D RGD:9068941 20200609 RGD PMID:10886251|REF_RGD_ID:5129562 8719081 C3 complement C3 gene DOID:557 kidney disease ISO RGD:735504 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: renal disease PMID:25741868|PMID:28492532|PMID:29888403|PMID:37369098 8719081 C3 complement C3 gene DOID:5844 myocardial infarction ISO RGD:2232 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:myocardium PMID:16996480|REF_RGD_ID:1600605 8719081 C3 complement C3 gene DOID:5844 myocardial infarction treatment ISO RGD:2232 D RGD:9068941 20241116 RGD PMID:31734577|REF_RGD_ID:408418726 8719081 C3 complement C3 gene DOID:589 congenital hemolytic anemia ISO RGD:735504 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Congenital hemolytic anemia PMID:25741868|PMID:28492532 8719081 C3 complement C3 gene DOID:612 primary immunodeficiency disease ISO RGD:735504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1350678 8719081 C3 complement C3 gene DOID:6195 conjunctivitis ISO RGD:735504 D RGD:9068941 20200609 RGD protein:increased expression:tear PMID:3875643|REF_RGD_ID:7421524 8719081 C3 complement C3 gene DOID:630 genetic disease ISO RGD:735504 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16687714|PMID:17634448|PMID:17767156|PMID:18325906|PMID:19168221|PMID:19259132|PMID:1976733|PMID:20664795|PMID:21576320|PMID:22718507|PMID:23112567|PMID:23314101|PMID:23455636|PMID:24845532|PMID:25431709|PMID:25608561|PMID:25741868|PMID:25951460|PMID:27722136|PMID:28492532|PMID:33213850|PMID:35685318|PMID:7870343 8719081 C3 complement C3 gene DOID:684 hepatocellular carcinoma ISO RGD:2232 D RGD:9068941 20200609 RGD PMID:23245919|REF_RGD_ID:11040806 8719081 C3 complement C3 gene DOID:7148 rheumatoid arthritis ISO RGD:735504 D RGD:9068941 20200609 RGD PMID:7561187|REF_RGD_ID:11040775 8719081 C3 complement C3 gene DOID:8354 complement component 3 deficiency ISO RGD:735504 D RGD:7240710 20250312 OMIM 8719081 C3 complement C3 gene DOID:8354 complement component 3 deficiency ISO RGD:735504 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: C3 deficiency | ClinVar Annotator: match by term: Complement component 3 deficiency | ClinVar Annotator: match by term: Complement component 3 deficiency, autosomal recessive PMID:12462331|PMID:1350678|PMID:14639503|PMID:15781264|PMID:16199547|PMID:17634448|PMID:18325906|PMID:18796626|PMID:19168221|PMID:19590060|PMID:1976733|PMID:20595690|PMID:21501302|PMID:21810760|PMID:22594991|PMID:22669319|PMID:22673887|PMID:23307876|PMID:23314101|PMID:23431077|PMID:23847193|PMID:24029428|PMID:24036949|PMID:24036950|PMID:24036952|PMID:24736606|PMID:24845532|PMID:25188723|PMID:25608561|PMID:25741868|PMID:25951460|PMID:26283675|PMID:26559391|PMID:26613027|PMID:26767664|PMID:26830967|PMID:28011711|PMID:28492532|PMID:28596415|PMID:28752844|PMID:28939980|PMID:29410599|PMID:29500241|PMID:29566171|PMID:29670616|PMID:29888403|PMID:30046676|PMID:30131807|PMID:30377230|PMID:30890598|PMID:32424742|PMID:32950058|PMID:33213850|PMID:33609329|PMID:34169201|PMID:34631043|PMID:34714369|PMID:34748552|PMID:34973142|PMID:35295324|PMID:35372954|PMID:35373096|PMID:37369098|PMID:37466676|PMID:4117597|PMID:7961791 8719081 C3 complement C3 gene DOID:8466 retinal degeneration ISO RGD:2232 D RGD:9068941 20200609 RGD PMID:21467172|REF_RGD_ID:7364947 8719081 C3 complement C3 gene DOID:8466 retinal degeneration ISO RGD:2232 D RGD:9068941 20200609 RGD mRNA:increased expression:retina PMID:21571681|REF_RGD_ID:7401257 8719081 C3 complement C3 gene DOID:850 lung disease ISO RGD:10256 D RGD:9068941 20200609 RGD Acute Lung Injury PMID:21421909|REF_RGD_ID:5129564 8719081 C3 complement C3 gene DOID:8501 fundus dystrophy ISO RGD:735504 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:22594991|PMID:22673887|PMID:24036949|PMID:24036950|PMID:24036952|PMID:25741868|PMID:26767664|PMID:26830967|PMID:28011711|PMID:28492532|PMID:29410599|PMID:29888403|PMID:30131807|PMID:34748552 8719081 C3 complement C3 gene DOID:8566 herpes simplex ISO RGD:10256 D RGD:9068941 20200609 RGD PMID:11509581|REF_RGD_ID:7401276 8719081 C3 complement C3 gene DOID:8577 ulcerative colitis ISO RGD:735504 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35999755 8719081 C3 complement C3 gene DOID:874 bacterial pneumonia ISO RGD:10256 D RGD:9068941 20200609 RGD PMID:16014897|REF_RGD_ID:5129508 8719081 C3 complement C3 gene DOID:9000326 Thrombotic Microangiopathies treatment ISO RGD:2232 D RGD:9068941 20200609 RGD PMID:11532096|REF_RGD_ID:5129554 8719081 C3 complement C3 gene DOID:9000363 Hematuria ISO RGD:735504 D RGD:9068941 20200609 RGD protein:increased expression:renal arteriole: PMID:10955930|REF_RGD_ID:7183083 8719081 C3 complement C3 gene DOID:9000438 Subarachnoid Hemorrhage treatment ISO RGD:2232 D RGD:9068941 20200609 RGD PMID:26518242|REF_RGD_ID:11040780 8719081 C3 complement C3 gene DOID:9000656 Penetrating Wounds treatment ISO RGD:735504 D RGD:9068941 20200609 RGD PMID:22007700|REF_RGD_ID:11040781 8719081 C3 complement C3 gene DOID:9000998 Brain Injuries ISO RGD:2232 D RGD:9068941 20200609 RGD PMID:23808389|REF_RGD_ID:10054313 8719081 C3 complement C3 gene DOID:9001488 Human Influenza ISO RGD:10256 D RGD:9068941 20200609 RGD PMID:21408070|REF_RGD_ID:5129492 8719081 C3 complement C3 gene DOID:9001708 Hemorrhagic Shock ISO RGD:2232 D RGD:9068941 20241128 RGD PMID:26687560|REF_RGD_ID:408427361 8719081 C3 complement C3 gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:10256 D RGD:9068941 20200609 RGD PMID:15972516|REF_RGD_ID:5129509 8719081 C3 complement C3 gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:735504 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:20405|REF_RGD_ID:5130163 8719081 C3 complement C3 gene DOID:9002106 Pneumococcal Pneumonia disease_progression ISO RGD:2232 D RGD:9068941 20200609 RGD associated with Liver Cirrhosis, Experimental;protein:decreased expression:respiratory system fluid/secretion PMID:17956621|REF_RGD_ID:5129523 8719081 C3 complement C3 gene DOID:9002153 Chronic Allograft Dysfunction treatment ISO RGD:2232 D RGD:9068941 20200609 RGD PMID:25122638|REF_RGD_ID:11040803 8719081 C3 complement C3 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:2232 D RGD:9068941 20200609 RGD PMID:19854450|REF_RGD_ID:11040888 8719081 C3 complement C3 gene DOID:9002165 Diabetic Nephropathies ISO RGD:10256 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1; protein:increased expression:kidney: PMID:19200691|REF_RGD_ID:7183082 8719081 C3 complement C3 gene DOID:9002165 Diabetic Nephropathies ISO RGD:2232 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:25662584|REF_RGD_ID:11040807 8719081 C3 complement C3 gene DOID:9002211 Hyperalgesia ISO RGD:2232 D RGD:9068941 20200609 RGD associated with Sciatic Neuropathy;mRNA, protein:increased expression:spinal cord PMID:23588254|REF_RGD_ID:7401259 8719081 C3 complement C3 gene DOID:9002457 Experimental Arthritis ISO RGD:10256 D RGD:9068941 20200609 RGD PMID:20051658|REF_RGD_ID:7411688 8719081 C3 complement C3 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:2232 D RGD:9068941 20200609 RGD PMID:7347767|REF_RGD_ID:11041098 8719081 C3 complement C3 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:2232 D RGD:9068941 20200609 RGD PMID:17114852|REF_RGD_ID:5129540 8719081 C3 complement C3 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:2232 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:22320401|REF_RGD_ID:7175513 8719081 C3 complement C3 gene DOID:9002834 Herpesviridae Infections ISO RGD:10256 D RGD:9068941 20200609 RGD PMID:12196286|REF_RGD_ID:5129514 8719081 C3 complement C3 gene DOID:9003565 Paratuberculosis ISO RGD:735504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22633222 8719081 C3 complement C3 gene DOID:9003690 Carcinoma, Lewis Lung treatment ISO RGD:10256 D RGD:9068941 20200609 RGD PMID:16947020|REF_RGD_ID:7401280 8719081 C3 complement C3 gene DOID:9004009 Reperfusion Injury ISO RGD:2232 D RGD:9068941 20200609 RGD protein:increased expression:intestine PMID:17981193|REF_RGD_ID:5129536 8719081 C3 complement C3 gene DOID:9004484 Sepsis ISO RGD:10256 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:24154627|REF_RGD_ID:11040886 8719081 C3 complement C3 gene DOID:9004484 Sepsis ISO RGD:2232 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:3339873|REF_RGD_ID:7411622 8719081 C3 complement C3 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:2232 D RGD:9068941 20200609 RGD PMID:22763771|REF_RGD_ID:11040808 8719081 C3 complement C3 gene DOID:9005020 Brain Contusion ameliorates ISO RGD:2232 D RGD:9068941 20241116 RGD PMID:31654641|REF_RGD_ID:408418727 8719081 C3 complement C3 gene DOID:9005036 Bacteremia ISO RGD:2232 D RGD:9068941 20241114 RGD associated with Experimental Liver Cirrhosis; protein:decreased expression:serum PMID:11349015|REF_RGD_ID:408395143 8719081 C3 complement C3 gene DOID:9005941 Rhinosinusitis ISO RGD:735504 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19593977|REF_RGD_ID:4889484 8719081 C3 complement C3 gene DOID:9005969 Refractory Anemia with Excess of Blasts disease_progression ISO RGD:735504 D RGD:9068941 20200609 RGD PMID:9741227|REF_RGD_ID:11041158 8719081 C3 complement C3 gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:2232 D RGD:9068941 20200609 RGD PMID:19691975|REF_RGD_ID:7411689 8719081 C3 complement C3 gene DOID:9006642 Experimental Autoimmune Uveoretinitis ISO RGD:10256 D RGD:9068941 20200609 RGD PMID:16143328|REF_RGD_ID:7401262 8719081 C3 complement C3 gene DOID:9006646 Metabolic Syndrome ISO RGD:735504 D RGD:9068941 20200609 RGD PMID:16488421|REF_RGD_ID:2314030 8719081 C3 complement C3 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:735504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 8719081 C3 complement C3 gene DOID:9006928 Viral Bronchiolitis ISO RGD:10256 D RGD:9068941 20200609 RGD PMID:12235218|REF_RGD_ID:5129513 8719081 C3 complement C3 gene DOID:9006928 Viral Bronchiolitis resistance ISO RGD:735504 D RGD:9068941 20200609 RGD PMID:19258923|REF_RGD_ID:4142862 8719081 C3 complement C3 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16099942 8719081 C3 complement C3 gene DOID:9007692 Insulin Resistance ISO RGD:735504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18615583 8719081 C3 complement C3 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2232 D RGD:9068941 20200609 RGD protein:increased expression:myocardium PMID:11560858|REF_RGD_ID:1582136 8719081 C3 complement C3 gene DOID:9008091 Optic Nerve Injuries ISO RGD:2232 D RGD:9068941 20200609 RGD mRNA:increased expression:optic nerve PMID:14577867|REF_RGD_ID:5129542 8719081 C3 complement C3 gene DOID:9008261 Chemically-Induced Disorders ISO RGD:735504 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35999755 8719081 C3 complement C3 gene DOID:9008286 Experimental Autoimmune Myasthenia Gravis ISO RGD:10256 D RGD:9068941 20200609 RGD PMID:17962462|REF_RGD_ID:7401263 8719081 C3 complement C3 gene DOID:9008286 Experimental Autoimmune Myasthenia Gravis ISO RGD:2232 D RGD:9068941 20200609 RGD PMID:147324|REF_RGD_ID:11040804 8719081 C3 complement C3 gene DOID:9008366 Meningococcal Infections severity ISO RGD:735504 D RGD:9068941 20200609 RGD PMID:3491693|REF_RGD_ID:11041157 8719081 C3 complement C3 gene DOID:9008604 Radiation Pneumonitis ISO RGD:735504 D RGD:9068941 20200609 RGD Protein: increased expression: plasma PMID:20510197|REF_RGD_ID:5129484 8719081 C3 complement C3 gene DOID:9008821 Otitis Media with Effusion disease_progression ISO RGD:735504 D RGD:9068941 20200609 RGD PMID:11037838|REF_RGD_ID:7401253 8719081 C3 complement C3 gene DOID:9065 leishmaniasis ISO RGD:10256 D RGD:9068941 20200609 RGD PMID:15378355|REF_RGD_ID:7401274 8719081 C3 complement C3 gene DOID:9074 systemic lupus erythematosus severity ISO RGD:735504 D RGD:9068941 20200609 RGD protein:increased processing PMID:7510492|REF_RGD_ID:11040772 8719081 C3 complement C3 gene DOID:9182 pemphigus ISO RGD:735504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:74171 8719081 C3 complement C3 gene DOID:9282 ocular hypertension ISO RGD:2232 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:retina PMID:16677633|REF_RGD_ID:1599509 8719081 C3 complement C3 gene DOID:9282 ocular hypertension ISO RGD:735504 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:retina PMID:16677633|REF_RGD_ID:1599509 8719081 C3 complement C3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:735504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20504758 8719081 C3 complement C3 gene DOID:9408 acute myocardial infarction ISO RGD:735504 D RGD:9068941 20200609 RGD PMID:26476955|REF_RGD_ID:11552746 8719081 C3 complement C3 gene DOID:9498 pulmonary eosinophilia ISO RGD:10256 D RGD:9068941 20200609 RGD PMID:23549917|REF_RGD_ID:7401272 8719081 C3 complement C3 gene DOID:9744 type 1 diabetes mellitus ISO RGD:735504 D RGD:9068941 20200609 RGD PMID:3253105|REF_RGD_ID:2314031 8719081 C3 complement C3 gene DOID:9970 obesity treatment ISO RGD:2232 D RGD:9068941 20200609 RGD PMID:23118029|REF_RGD_ID:7411625 8719146 Map4 microtubule associated protein 4 gene DOID:0060165 Kleine-Levin syndrome ISO RGD:1343248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kleine-Levin syndrome 8719146 Map4 microtubule associated protein 4 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1343248 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 8719146 Map4 microtubule associated protein 4 gene DOID:9004657 Weight Gain ISO RGD:1343248 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 8719190 Lacc1 laccase domain containing 1 gene DOID:1024 leprosy ISO RGD:1602651 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 PMID:25741868 8719190 Lacc1 laccase domain containing 1 gene DOID:630 genetic disease ISO RGD:1602651 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8719190 Lacc1 laccase domain containing 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1602651 D RGD:7240710 20200318 OMIM 8719190 Lacc1 laccase domain containing 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1602651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: JUVENILE ARTHRITIS PMID:25147203|PMID:25220867|PMID:25741868|PMID:27881174|PMID:29717096|PMID:31811059 8719200 Inpp4b inositol polyphosphate-4-phosphatase type II B gene DOID:11054 urinary bladder cancer ISO RGD:734292 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29415082 8719200 Inpp4b inositol polyphosphate-4-phosphatase type II B gene DOID:1793 pancreatic cancer ISO RGD:734292 D RGD:9068941 20240208 CTD CTD Direct Evidence: marker/mechanism PMID:29415082 8719200 Inpp4b inositol polyphosphate-4-phosphatase type II B gene DOID:4450 renal cell carcinoma ISO RGD:734292 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29415082 8719200 Inpp4b inositol polyphosphate-4-phosphatase type II B gene DOID:684 hepatocellular carcinoma ISO RGD:734292 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29415082 8719200 Inpp4b inositol polyphosphate-4-phosphatase type II B gene DOID:9119 acute myeloid leukemia ISO RGD:734292 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29415082 8719237 Paaf1 proteasomal ATPase associated factor 1 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1602098 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 8719237 Paaf1 proteasomal ATPase associated factor 1 gene DOID:1059 intellectual disability ISO RGD:1602098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8719271 Ngef neuronal guanine nucleotide exchange factor gene DOID:0060476 Perlman syndrome ISO RGD:1319181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 8719271 Ngef neuronal guanine nucleotide exchange factor gene DOID:0110991 Joubert syndrome 22 ISO RGD:1319181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 8719296 Unc45b unc-45 myosin chaperone B gene DOID:0080478 peroxisome biogenesis disorder 3A ISO RGD:1313830 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A (Zellweger) PMID:21031596|PMID:28492532|PMID:9090384|PMID:9632816 8719296 Unc45b unc-45 myosin chaperone B gene DOID:0081338 myofibrillar myopathy 11 ISO RGD:1313830 D RGD:7240710 20210303 OMIM 8719296 Unc45b unc-45 myosin chaperone B gene DOID:0081338 myofibrillar myopathy 11 ISO RGD:1313830 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: MYOPATHY, CONGENITAL, WITH ECCENTRIC CORES | ClinVar Annotator: match by term: Myofibrillar myopathy 11 PMID:25741868|PMID:31852522|PMID:33217308 8719296 Unc45b unc-45 myosin chaperone B gene DOID:0110259 cataract 43 ISO RGD:1313830 D RGD:7240710 20180130 OMIM 8719296 Unc45b unc-45 myosin chaperone B gene DOID:0110259 cataract 43 ISO RGD:1313830 D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: Cataract 43 | ClinVar Annotator: match by term: UNC45B-related condition PMID:24549050|PMID:25741868|PMID:28492532|PMID:31852522|PMID:33217308 8719296 Unc45b unc-45 myosin chaperone B gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1313830 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A 8719296 Unc45b unc-45 myosin chaperone B gene DOID:114 heart disease ISO RGD:1313830 D RGD:9068941 20240912 CTD CTD Direct Evidence: marker/mechanism PMID:17189627 8719296 Unc45b unc-45 myosin chaperone B gene DOID:423 myopathy ISO RGD:1313830 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Myopathy PMID:25741868|PMID:31852522|PMID:33217308 8719296 Unc45b unc-45 myosin chaperone B gene DOID:630 genetic disease ISO RGD:1313830 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12356907|PMID:17189627|PMID:17586488|PMID:19348700|PMID:19504455|PMID:19834024|PMID:19854944|PMID:24549050|PMID:25348405|PMID:25741868|PMID:28492532|PMID:2981587 8719296 Unc45b unc-45 myosin chaperone B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8719296 Unc45b unc-45 myosin chaperone B gene DOID:9005246 Paralysis ISO RGD:1313830 D RGD:9068941 20240912 CTD CTD Direct Evidence: marker/mechanism PMID:17189627 8719296 Unc45b unc-45 myosin chaperone B gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1313830 D RGD:9068941 20240912 CTD CTD Direct Evidence: marker/mechanism PMID:17189627 8719343 Grid2 glutamate ionotropic receptor delta type subunit 2 gene DOID:0050886 Troyer syndrome ISO RGD:68527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Troyer syndrome PMID:24122788 8719343 Grid2 glutamate ionotropic receptor delta type subunit 2 gene DOID:0050988 GRID2-related spinocerebellar ataxia ISO RGD:68527 D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: GRID2-related condition PMID:25741868|PMID:28492532 8719343 Grid2 glutamate ionotropic receptor delta type subunit 2 gene DOID:0080042 autosomal recessive spinocerebellar ataxia 18 ISO RGD:68527 D RGD:7240710 20180130 OMIM 8719343 Grid2 glutamate ionotropic receptor delta type subunit 2 gene DOID:0080042 autosomal recessive spinocerebellar ataxia 18 ISO RGD:68527 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 18 PMID:23611888|PMID:24078737|PMID:25741868|PMID:27980096|PMID:28492532|PMID:31429931 8719343 Grid2 glutamate ionotropic receptor delta type subunit 2 gene DOID:5419 schizophrenia ISO RGD:68527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8719343 Grid2 glutamate ionotropic receptor delta type subunit 2 gene DOID:630 genetic disease ISO RGD:68527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases PMID:10725919|PMID:15970596|PMID:28492532|PMID:9285588 8719343 Grid2 glutamate ionotropic receptor delta type subunit 2 gene DOID:630 genetic disease ISO RGD:68527 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10725919|PMID:15970596|PMID:25741868|PMID:25841024|PMID:28492532|PMID:9285588 8719343 Grid2 glutamate ionotropic receptor delta type subunit 2 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:68527 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8719373 Tbx21 T-box transcription factor 21 gene DOID:0061058 immunodeficiency 88 ISO RGD:1317938 D RGD:7240710 20250226 OMIM 8719373 Tbx21 T-box transcription factor 21 gene DOID:0061058 immunodeficiency 88 ISO RGD:1317938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 88 PMID:25741868 8719373 Tbx21 T-box transcription factor 21 gene DOID:0080822 aspirin-induced respiratory disease ISO RGD:1317938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Asthma, aspirin-induced, susceptibility to PMID:15806396 8719373 Tbx21 T-box transcription factor 21 gene DOID:0111579 asthma, nasal polyps, and aspirin intolerance ISO RGD:1317938 D RGD:7240710 20250226 OMIM 8719373 Tbx21 T-box transcription factor 21 gene DOID:0111579 asthma, nasal polyps, and aspirin intolerance ISO RGD:1317938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Asthma, nasal polyps, and aspirin intolerance PMID:25741868 8719373 Tbx21 T-box transcription factor 21 gene DOID:12365 malaria ISO RGD:1317938 D RGD:9068941 20200807 RGD PMID:19338000|REF_RGD_ID:38455985 8719373 Tbx21 T-box transcription factor 21 gene DOID:2841 asthma ISO RGD:1317938 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15806396 8719373 Tbx21 T-box transcription factor 21 gene DOID:2841 asthma ISO RGD:1317939 D RGD:9068941 20220825 MouseDO OMIM:600807 8719373 Tbx21 T-box transcription factor 21 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1317938 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 PMID:38922859 8719373 Tbx21 T-box transcription factor 21 gene DOID:783 end stage renal disease ISO RGD:1317938 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26970513 8719373 Tbx21 T-box transcription factor 21 gene DOID:9004484 Sepsis severity ISO RGD:1317938 D RGD:9068941 20200806 RGD PMID:25403265|REF_RGD_ID:38455982 8719373 Tbx21 T-box transcription factor 21 gene DOID:9005372 Inflammation ISO RGD:1317938 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22325453 8719373 Tbx21 T-box transcription factor 21 gene DOID:9006961 Asthma and Nasal Polyps ISO RGD:1317938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Asthma and nasal polyps PMID:15806396 8719387 Eif2s3 eukaryotic translation initiation factor 2 subunit gamma gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8719387 Eif2s3 eukaryotic translation initiation factor 2 subunit gamma gene DOID:0060801 MEHMO syndrome ISO RGD:1346365 D RGD:7240710 20190315 OMIM 8719387 Eif2s3 eukaryotic translation initiation factor 2 subunit gamma gene DOID:0060801 MEHMO syndrome ISO RGD:1346365 D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: EIF2S3-related condition | ClinVar Annotator: match by term: MEHMO syndrome PMID:23063529|PMID:25741868|PMID:25741869|PMID:27333055|PMID:28055140|PMID:28492532|PMID:30878599 8719387 Eif2s3 eukaryotic translation initiation factor 2 subunit gamma gene DOID:12849 autistic disorder ISO RGD:1346365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8719387 Eif2s3 eukaryotic translation initiation factor 2 subunit gamma gene DOID:630 genetic disease ISO RGD:1346365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8719387 Eif2s3 eukaryotic translation initiation factor 2 subunit gamma gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8719403 Adtrp androgen dependent TFPI regulating protein gene DOID:3393 coronary artery disease ISO RGD:1313849 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21378986 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:0050753 cerebellar ataxia ISO RGD:737272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:0050851 glomerulosclerosis ISO RGD:11305 D RGD:9068941 20200609 RGD PMID:19918242|REF_RGD_ID:12879501 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:0060074 ductal carcinoma in situ ISO RGD:737272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20526721 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:0060326 myelomeningocele ISO RGD:737272 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype: :rs710218, rs2229682 (human) PMID:23427181|REF_RGD_ID:12879498 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:0060326 myelomeningocele ISO RGD:737272 D RGD:9068941 20200609 RGD DNA:deletion:intron:rs35565219 (human) PMID:21135204|REF_RGD_ID:11070819 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:0060405 chromosome 17q23.1-q23.2 deletion syndrome ISO RGD:737272 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Chromosome 17q23.1-q23.2 deletion syndrome PMID:12325075|PMID:17052934|PMID:17718830|PMID:19798636|PMID:21546317|PMID:25326635|PMID:25741868|PMID:26193382|PMID:28492532 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:737272 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure PMID:25741868 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:0060737 junctional epidermolysis bullosa Herlitz type ISO RGD:737272 D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Herlitz-type junctional epidermolysis bullosa PMID:20129935|PMID:25564316|PMID:25741868|PMID:25982116|PMID:26537434|PMID:26598494|PMID:28116237|PMID:28492532|PMID:29655203|PMID:34135856 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:0070560 glucose transporter type 1 deficiency syndrome ISO RGD:737272 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: GLUT1 deficiency syndrome | ClinVar Annotator: match by term: Glucose transport defect, blood-brain barrier | ClinVar Annotator: match by term: Glucose transporter protein syndrome | ClinVar Annotator: match by term: Glucose transporter type 1 deficiency syndrome PMID:10980529|PMID:11477212|PMID:12325075|PMID:15622525|PMID:16217704|PMID:16949238|PMID:17052934|PMID:17576681|PMID:17718830|PMID:18403583|PMID:18414213|PMID:18451999|PMID:18614966|PMID:19630075|PMID:19798636|PMID:19996082|PMID:20129935|PMID:20221955|PMID:20417043|PMID:20630673|PMID:20687207|PMID:21069159|PMID:21135204|PMID:21546317|PMID:21555602|PMID:21832227|PMID:22011817|PMID:23106342|PMID:23280796|PMID:23306390|PMID:23340081|PMID:2344855|PMID:23448551|PMID:23740044|PMID:24215330|PMID:24847886|PMID:25108116|PMID:25326635|PMID:25487684|PMID:25564316|PMID:25741868|PMID:25914049|PMID:25982116|PMID:26193382|PMID:26216499|PMID:26467025|PMID:26537434|PMID:26598494|PMID:26982753|PMID:27843123|PMID:28102150|PMID:28116237|PMID:28492532|PMID:28717674|PMID:28961260|PMID:29655203|PMID:29930392|PMID:30076047|PMID:30588498|PMID:30714351|PMID:30895386|PMID:31069529|PMID:31196579|PMID:31737037|PMID:32404902|PMID:33015236|PMID:33240831|PMID:34135856|PMID:34279792|PMID:35571021|PMID:35586607|PMID:36153584|PMID:36362347|PMID:37293674|PMID:9536098 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:0070561 glucose transporter type 1 deficiency syndrome 1 ISO RGD:737272 D RGD:7240710 20250212 OMIM 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:0070561 glucose transporter type 1 deficiency syndrome 1 ISO RGD:737272 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: De Vivo disease | ClinVar Annotator: match by term: Encephalopathy due to GLUT1 deficiency | ClinVar Annotator: match by term: GLUT1 deficiency syndrome 1 | ClinVar Annotator: match by term: GLUT1 deficiency syndrome 1, autosomal recessive PMID:10227690|PMID:10980529|PMID:11076005|PMID:11477212|PMID:11603379|PMID:12325075|PMID:15622525|PMID:16172126|PMID:16199547|PMID:16217704|PMID:16949238|PMID:17052934|PMID:17576681|PMID:17718830|PMID:18387950|PMID:18403583|PMID:18414213|PMID:18451999|PMID:18577546|PMID:18606970|PMID:18614966|PMID:19237265|PMID:19630075|PMID:19798636|PMID:19996082|PMID:20129935|PMID:20221955|PMID:20301603|PMID:20382060|PMID:20417043|PMID:20574033|PMID:20621801|PMID:20630673|PMID:20687207|PMID:20830593|PMID:21069159|PMID:21135204|PMID:21204808|PMID:21530357|PMID:21546317|PMID:21555602|PMID:21649651|PMID:21832227|PMID:21865127|PMID:21937992|PMID:22011817|PMID:22282645|PMID:22622956|PMID:22704013|PMID:22814174|PMID:22976442|PMID:23020937|PMID:23106342|PMID:23280796|PMID:23306390|PMID:23340081|PMID:2344855|PMID:23448551|PMID:23740044|PMID:23801573|PMID:24080273|PMID:24215330|PMID:24487825|PMID:24824604|PMID:24847886|PMID:24892788|PMID:25022942|PMID:25099510|PMID:25108116|PMID:25167861|PMID:25326635|PMID:25381171|PMID:25487684|PMID:25564316|PMID:25741868|PMID:25914049|PMID:25982116|PMID:26193382|PMID:26216499|PMID:26267703|PMID:26467025|PMID:26537434|PMID:26598494|PMID:26615598|PMID:26982753|PMID:27098784|PMID:27250207|PMID:27351150|PMID:27843123|PMID:27848944|PMID:27927575|PMID:28018440|PMID:28042592|PMID:28074849|PMID:28102150|PMID:28116237|PMID:28135719|PMID:28378819|PMID:28443597|PMID:28492532|PMID:28554332|PMID:28556183|PMID:28717674|PMID:28961260|PMID:28971506|PMID:29303961|PMID:29356177|PMID:29530121|PMID:29655203|PMID:29778030|PMID:29930392|PMID:29961769|PMID:30115503|PMID:30197081|PMID:30198221|PMID:30271476|PMID:30588498|PMID:30714351|PMID:30895386|PMID:31069529|PMID:31196579|PMID:31273778|PMID:31302675|PMID:31487502|PMID:31737037|PMID:32404902|PMID:32753446|PMID:32802945|PMID:32901917|PMID:33015236|PMID:33240831|PMID:33258288|PMID:33860439|PMID:34135856|PMID:34279792|PMID:34305802|PMID:34541019|PMID:34568804|PMID:35571021|PMID:35586607|PMID:36153584|PMID:36362347|PMID:36480001|PMID:37273706|PMID:37293674|PMID:39825153|PMID:9335548|PMID:9536098 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:0090044 dystonia 9 ISO RGD:737272 D RGD:7240710 20250212 OMIM 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:0090044 dystonia 9 ISO RGD:737272 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: CHOREOATHETOSIS, KINESIGENIC, WITH EPISODIC ATAXIA AND SPASTICITY | ClinVar Annotator: match by term: Dystonia 9 PMID:10980529|PMID:11076005|PMID:11477212|PMID:12325075|PMID:15622525|PMID:16217704|PMID:16949238|PMID:17052934|PMID:17576681|PMID:17718830|PMID:18414213|PMID:18451999|PMID:19630075|PMID:19798636|PMID:20129935|PMID:20417043|PMID:21069159|PMID:21135204|PMID:21546317|PMID:21555602|PMID:21832227|PMID:21865127|PMID:22011817|PMID:22622956|PMID:22704013|PMID:22976442|PMID:23106342|PMID:23280796|PMID:23306390|PMID:23340081|PMID:23448551|PMID:24215330|PMID:25108116|PMID:25326635|PMID:25487684|PMID:25564316|PMID:25741868|PMID:25914049|PMID:25982116|PMID:26193382|PMID:26216499|PMID:26467025|PMID:26537434|PMID:26598494|PMID:26615598|PMID:26982753|PMID:27351150|PMID:27843123|PMID:28018440|PMID:28102150|PMID:28116237|PMID:28492532|PMID:28717674|PMID:28961260|PMID:29655203|PMID:29961769|PMID:30588498|PMID:30714351|PMID:30895386|PMID:31069529|PMID:31196579|PMID:31737037|PMID:32404902|PMID:33240831|PMID:34135856|PMID:34279792|PMID:35571021|PMID:35586607|PMID:36153584|PMID:36362347|PMID:37293674|PMID:9536098 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:0090045 glucose transporter type 1 deficiency syndrome 2 ISO RGD:737272 D RGD:7240710 20250212 OMIM 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:0090045 glucose transporter type 1 deficiency syndrome 2 ISO RGD:737272 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Childhood onset GLUT1 deficiency syndrome 2 | ClinVar Annotator: match by term: GLUT1 deficiency syndrome 2 | ClinVar Annotator: match by term: PAROXYSMAL EXERTION-INDUCED DYSTONIA WITH OR WITHOUT EPILEPSY AND/OR HEMOLYTIC ANEMIA | ClinVar Annotator: match by term: Paroxysmal exercise-induced dystonia PMID:10227690|PMID:10980529|PMID:11076005|PMID:11477212|PMID:11603379|PMID:12325075|PMID:15622525|PMID:16217704|PMID:16949238|PMID:17052934|PMID:17576681|PMID:17718830|PMID:18403583|PMID:18414213|PMID:18451999|PMID:18606970|PMID:19630075|PMID:19798636|PMID:19996082|PMID:20129935|PMID:20301603|PMID:20417043|PMID:20621801|PMID:20687207|PMID:21069159|PMID:21135204|PMID:21530357|PMID:21546317|PMID:21555602|PMID:21832227|PMID:22011817|PMID:23106342|PMID:23280796|PMID:23306390|PMID:23340081|PMID:2344855|PMID:23448551|PMID:24215330|PMID:24487825|PMID:24847886|PMID:24892788|PMID:25022942|PMID:25108116|PMID:25167861|PMID:25326635|PMID:25487684|PMID:25564316|PMID:25741868|PMID:25914049|PMID:25982116|PMID:26193382|PMID:26216499|PMID:26467025|PMID:26537434|PMID:26598494|PMID:26615598|PMID:27351150|PMID:27843123|PMID:28042592|PMID:28102150|PMID:28116237|PMID:28492532|PMID:28717674|PMID:28961260|PMID:28971506|PMID:29530121|PMID:29655203|PMID:30271476|PMID:30588498|PMID:30714351|PMID:30895386|PMID:31069529|PMID:31196579|PMID:31302675|PMID:31605543|PMID:31737037|PMID:32404902|PMID:32753446|PMID:33240831|PMID:34135856|PMID:34305802|PMID:34541019|PMID:35571021|PMID:35586607|PMID:36153584|PMID:36362347|PMID:37293674|PMID:9462754|PMID:9536098 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:737272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:10487 Hirschsprung's disease ISO RGD:737272 D RGD:9068941 20200609 RGD PMID:10975929|REF_RGD_ID:12879497 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:1059 intellectual disability ISO RGD:737272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:18606970|PMID:19630075|PMID:20301603|PMID:25167861|PMID:25564316|PMID:25741868|PMID:26598494|PMID:28492532|PMID:32581362 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:1059 intellectual disability ISO RGD:737272 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual deficiency | ClinVar Annotator: match by term: intellectual disabilities PMID:10980529|PMID:18606970|PMID:19630075|PMID:20129935|PMID:20301603|PMID:25167861|PMID:25326635|PMID:25564316|PMID:25741868|PMID:26216499|PMID:26598494|PMID:28492532|PMID:32581362 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:1059 intellectual disability ISO RGD:737272 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual deficiency PMID:10980529|PMID:16385454|PMID:18606970|PMID:19630075|PMID:20301500|PMID:20301603|PMID:25167861|PMID:25326635|PMID:25741868|PMID:28492532|PMID:32581362 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:1059 intellectual disability ISO RGD:737272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual deficiency PMID:10980529|PMID:18606970|PMID:19630075|PMID:20129935|PMID:20301603|PMID:21832227|PMID:25167861|PMID:25326635|PMID:25564316|PMID:25741868|PMID:26193382|PMID:26216499|PMID:26598494|PMID:28492532|PMID:32581362 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:10591 pre-eclampsia ISO RGD:737272 D RGD:9068941 20221103 RGD mRNA:decreased expression:chorionic villus (human) PMID:22840297|REF_RGD_ID:155631283 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:10652 Alzheimer's disease ISO RGD:737272 D RGD:9068941 20200609 RGD PMID:8179300|REF_RGD_ID:2313620 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:10763 hypertension ISO RGD:3704 D RGD:9068941 20200609 RGD protein:increased expression:renal glomerulus PMID:12771048|REF_RGD_ID:12879474 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:10907 microcephaly ISO RGD:737272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:10980529|PMID:20129935|PMID:21832227|PMID:25326635|PMID:25741868|PMID:26193382|PMID:26216499|PMID:28492532|PMID:32581362 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:1459 hypothyroidism ISO RGD:3704 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex PMID:16581179|REF_RGD_ID:12879481 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:1790 malignant mesothelioma ISO RGD:737272 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:22784439 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:1825 childhood absence epilepsy onset ISO RGD:737272 D RGD:9068941 20200609 RGD DNA:deletion, missense mutations, SNP:multiple PMID:26537434|REF_RGD_ID:11058811 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:1826 epilepsy ISO RGD:737272 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizure disorder PMID:10980529|PMID:16217704|PMID:18403583|PMID:19996082|PMID:20129935|PMID:21832227|PMID:22622956|PMID:23106342|PMID:2344855|PMID:23448551|PMID:24847886|PMID:25326635|PMID:25741868|PMID:26193382|PMID:26216499|PMID:26982753|PMID:28492532 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:2154 nephroblastoma severity ISO RGD:737272 D RGD:9068941 20200609 RGD PMID:22483234|REF_RGD_ID:12879482 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:255 hemangioma ISO RGD:737272 D RGD:9068941 20200609 RGD PMID:10665907|REF_RGD_ID:12879499 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:737272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:29358611 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:3704 D RGD:9068941 20200609 RGD PMID:9419067|REF_RGD_ID:12879855 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:423 myopathy ISO RGD:737272 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Myopathy PMID:25741868|PMID:28492532 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:4450 renal cell carcinoma ISO RGD:737272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7921415 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:543 dystonia ISO RGD:737272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonia | ClinVar Annotator: match by term: Dystonic disorder | ClinVar Annotator: match by term: Paroxysmal dystonia PMID:25741868|PMID:28492532 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:630 genetic disease ISO RGD:737272 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10980529|PMID:11477212|PMID:16217704|PMID:16949238|PMID:17052934|PMID:18414213|PMID:19630075|PMID:19798636|PMID:20129935|PMID:20417043|PMID:20830593|PMID:21069159|PMID:21135204|PMID:21555602|PMID:21649651|PMID:21832227|PMID:21865127|PMID:22011817|PMID:22190371|PMID:22704013|PMID:22976442|PMID:23106342|PMID:23280796|PMID:23340081|PMID:23448551|PMID:24847886|PMID:25326635|PMID:25487684|PMID:25564316|PMID:25741868|PMID:25914049|PMID:25982116|PMID:26193382|PMID:26216499|PMID:26467025|PMID:26537434|PMID:26598494|PMID:26982753|PMID:27078104|PMID:27250207|PMID:27843123|PMID:28018440|PMID:28102150|PMID:28492532|PMID:28717674|PMID:28961260|PMID:30588498|PMID:30714351|PMID:30895386|PMID:31069529|PMID:31196579|PMID:31737037|PMID:32404902|PMID:33240831|PMID:35571021|PMID:35586607|PMID:36153584|PMID:36362347|PMID:37293674|PMID:9462754 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:6364 migraine ISO RGD:737272 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Migraine PMID:25741868|PMID:28492532 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:655 inherited metabolic disorder ISO RGD:737272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23452774 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:684 hepatocellular carcinoma ISO RGD:737272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8364915 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:83 cataract ISO RGD:70495 D RGD:9068941 20200609 RGD PMID:11222509|REF_RGD_ID:12801446 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:8398 osteoarthritis ISO RGD:737272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18973239 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:863 nervous system disease ISO RGD:737272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23452774 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:9001834 Peritoneal Neoplasms ISO RGD:737272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22784439 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:9002035 Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly ISO RGD:737272 D RGD:7240710 20250212 OMIM 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:9002035 Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly ISO RGD:737272 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: GLUT1 DEFICIENCY SYNDROME WITH PSEUDOHYPERKALEMIA AND HEMOLYSIS | ClinVar Annotator: match by term: Stomatin-deficient cryohydrocytosis with neurologic defects PMID:10980529|PMID:11477212|PMID:12325075|PMID:15622525|PMID:16217704|PMID:16949238|PMID:17052934|PMID:17576681|PMID:17718830|PMID:18414213|PMID:19630075|PMID:19798636|PMID:20129935|PMID:20417043|PMID:21069159|PMID:21135204|PMID:21546317|PMID:21555602|PMID:21832227|PMID:22011817|PMID:23106342|PMID:23280796|PMID:23306390|PMID:23340081|PMID:23448551|PMID:24215330|PMID:25108116|PMID:25326635|PMID:25487684|PMID:25564316|PMID:25741868|PMID:25914049|PMID:25982116|PMID:26193382|PMID:26216499|PMID:26467025|PMID:26537434|PMID:26598494|PMID:27843123|PMID:28102150|PMID:28116237|PMID:28492532|PMID:28717674|PMID:28961260|PMID:29655203|PMID:30588498|PMID:30714351|PMID:30895386|PMID:31069529|PMID:31737037|PMID:32404902|PMID:33240831|PMID:34135856|PMID:35571021|PMID:35586607|PMID:36153584|PMID:36362347|PMID:37293674|PMID:9536098 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:737272 D RGD:9068941 20200609 RGD PMID:15745834|REF_RGD_ID:2312305 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:737272 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:SNP:exon:g.20882C>T (human) PMID:26337659|REF_RGD_ID:12879466 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:3704 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:22707888|REF_RGD_ID:12879861 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:3704 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:9886959|REF_RGD_ID:12879480 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:3704 D RGD:9068941 20200609 RGD protein:increased expression:placenta PMID:11738800|REF_RGD_ID:730192 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:737272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20138251 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:737272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11953883 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:9003760 Myalgia ISO RGD:737272 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Myalgia PMID:25741868|PMID:28492532 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:9004009 Reperfusion Injury ISO RGD:3704 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:19781384|REF_RGD_ID:2313601 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:9004866 Ataxia ISO RGD:737272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11603379 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:9005532 Muscle Weakness ISO RGD:737272 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Muscle weakness PMID:25741868|PMID:28492532 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3704 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:brain PMID:17935675|REF_RGD_ID:2313617 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:3704 D RGD:9068941 20200609 RGD PMID:8345816|REF_RGD_ID:12879858 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:9006646 Metabolic Syndrome ameliorates ISO RGD:11305 D RGD:9068941 20231026 RGD PMID:31353547|REF_RGD_ID:401850595 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:9007188 Liver Neoplasms ISO RGD:737272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26943884 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:737272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11953883 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3704 D RGD:9068941 20200609 RGD PMID:10336852|REF_RGD_ID:12879857 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:9008086 Developmental Disabilities ISO RGD:737272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10980529|PMID:11603379|PMID:9462754 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:9008138 Ductal Carcinoma ISO RGD:737272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20526721 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:9008582 Developmental Disease ISO RGD:737272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:19630075|PMID:25564316|PMID:25741868|PMID:26598494|PMID:28492532 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:9008660 Infantile Capillary Hemangioma ISO RGD:737272 D RGD:9068941 20200609 RGD PMID:17554865|REF_RGD_ID:12879502 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:9008939 Breast Neoplasms ISO RGD:737272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20197467 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:9009304 Idiopathic Generalized Epilepsy 12 ISO RGD:737272 D RGD:7240710 20250212 OMIM 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:9009304 Idiopathic Generalized Epilepsy 12 ISO RGD:737272 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 12 PMID:10980529|PMID:11477212|PMID:15622525|PMID:16217704|PMID:16949238|PMID:17052934|PMID:17576681|PMID:18414213|PMID:19630075|PMID:20129935|PMID:20417043|PMID:21069159|PMID:21135204|PMID:21555602|PMID:21832227|PMID:22011817|PMID:22282645|PMID:23106342|PMID:23280796|PMID:23306390|PMID:23340081|PMID:23448551|PMID:24215330|PMID:25108116|PMID:25487684|PMID:25564316|PMID:25741868|PMID:25914049|PMID:25982116|PMID:26193382|PMID:26467025|PMID:26537434|PMID:26598494|PMID:27843123|PMID:28102150|PMID:28116237|PMID:28492532|PMID:28556183|PMID:28717674|PMID:28961260|PMID:29655203|PMID:30588498|PMID:30714351|PMID:30895386|PMID:31069529|PMID:31737037|PMID:32404902|PMID:33240831|PMID:34135856|PMID:35571021|PMID:35586607|PMID:36153584|PMID:36362347|PMID:37293674|PMID:9536098 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:9351 diabetes mellitus ISO RGD:737272 D RGD:9068941 20200609 RGD PMID:10022440|REF_RGD_ID:12879500 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9589670 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737272 D RGD:9068941 20200609 RGD PMID:18613291|REF_RGD_ID:2312306 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:737272 D RGD:9068941 20200609 RGD PMID:7516306|PMID:9789717|REF_RGD_ID:2312289|REF_RGD_ID:2312290 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:9970 obesity treatment ISO RGD:737272 D RGD:9068941 20200609 RGD associated with Polycystic Ovary Syndrome PMID:24842895|REF_RGD_ID:12879503 8719450 Ly6g5b lymphocyte antigen 6 family member G5B gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1349012 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8719450 Ly6g5b lymphocyte antigen 6 family member G5B gene DOID:11372 megacolon ISO RGD:1349012 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8719450 Ly6g5b lymphocyte antigen 6 family member G5B gene DOID:9002536 POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME ISO RGD:1349012 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Poirier-Bienvenu neurodevelopmental syndrome PMID:29758562 8719462 Lmna lamin A/C gene DOID:0014667 disease of metabolism ISO RGD:732790 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Metabolic disease PMID:28492532|PMID:32012908 8719462 Lmna lamin A/C gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:732790 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC PMID:22224630|PMID:22266370|PMID:22464770|PMID:23183350|PMID:23853504|PMID:24033266|PMID:24503780|PMID:24846508|PMID:25741868|PMID:27532257|PMID:27585670|PMID:27723096|PMID:27884249|PMID:28492532|PMID:29149195|PMID:29237675|PMID:30165862|PMID:30402260|PMID:30528549|PMID:30564623|PMID:30765282|PMID:30847666|PMID:30871747|PMID:31303467|PMID:31447099|PMID:31829210|PMID:34363016|PMID:34808346|PMID:35526016 8719462 Lmna lamin A/C gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:732790 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia PMID:17377071|PMID:22224630|PMID:22266370|PMID:22464770|PMID:23183350|PMID:23853504|PMID:24033266|PMID:24503780|PMID:24846508|PMID:25741868|PMID:27532257|PMID:27585670|PMID:27723096|PMID:27884249|PMID:28492532|PMID:29149195|PMID:29237675|PMID:30165862|PMID:30402260|PMID:30528549|PMID:30564623|PMID:30765282|PMID:30847666|PMID:30871747|PMID:31303467|PMID:31447099|PMID:31829210|PMID:34363016|PMID:34808346|PMID:35526016 8719462 Lmna lamin A/C gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:732790 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC PMID:17377071|PMID:22224630|PMID:22266370|PMID:22464770|PMID:23183350|PMID:23853504|PMID:24033266|PMID:24503780|PMID:24846508|PMID:25741868|PMID:26743238|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27723096|PMID:27884249|PMID:28492532|PMID:29149195|PMID:29237675|PMID:29709087|PMID:30165862|PMID:30402260|PMID:30528549|PMID:30564623|PMID:30739589|PMID:30765282|PMID:30847666|PMID:30871747|PMID:31303467|PMID:31447099|PMID:31829210|PMID:32413188|PMID:33887581|PMID:34363016|PMID:34808346|PMID:35526016 8719462 Lmna lamin A/C gene DOID:0050440 familial partial lipodystrophy ISO RGD:732790 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Familial partial lipodystrophy | ClinVar Annotator: match by term: LIPODYSTROPHY, REVERSE PARTIAL | ClinVar Annotator: match by term: Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules | ClinVar Annotator: match by term: Lipodystrophy, reverse partial PMID:10080180|PMID:10580070|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11792809|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12075506|PMID:12196663|PMID:12376891|PMID:12467734|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12702809|PMID:12716787|PMID:12784312|PMID:12788894|PMID:12920062|PMID:12927424|PMID:12927431|PMID:12938084|PMID:13129702|PMID:14510863|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14684700|PMID:14749366|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15372542|PMID:15473259|PMID:15475483|PMID:15531479|PMID:15678000|PMID:15744034|PMID:15770669|PMID:15843404|PMID:15965218|PMID:15998779|PMID:16046620|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16440304|PMID:16459536|PMID:16584978|PMID:16585054|PMID:16671095|PMID:16705075|PMID:16715312|PMID:16809772|PMID:17107595|PMID:17136397|PMID:17250669|PMID:17250699|PMID:17274801|PMID:17325275|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17524034|PMID:17536044|PMID:17556535|PMID:17576681|PMID:17612587|PMID:17711925|PMID:17760566|PMID:17848409|PMID:17893350|PMID:17987279|PMID:18035086|PMID:18041775|PMID:18348272|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551513|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18728124|PMID:18795223|PMID:18808171|PMID:18926329|PMID:19011997|PMID:19084400|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19446900|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19875478|PMID:19933576|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20376791|PMID:20497714|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21346069|PMID:21400569|PMID:21465660|PMID:21479595|PMID:21520333|PMID:21632249|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21883346|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22068161|PMID:22071332|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22355414|PMID:22431096|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22700598|PMID:22761994|PMID:22883396|PMID:22918509|PMID:23062543|PMID:23142632|PMID:23183350|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23702046|PMID:23783098|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24375749|PMID:24459210|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24846508|PMID:24861648|PMID:24915601|PMID:24943589|PMID:24990833|PMID:25025039|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25819867|PMID:25823658|PMID:25873806|PMID:25885670|PMID:26027246|PMID:26084686|PMID:26098624|PMID:26165385|PMID:26183555|PMID:26220970|PMID:262236|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26392352|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26498160|PMID:26573435|PMID:26602028|PMID:26662654|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26743238|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26900797|PMID:26976018|PMID:27000522|PMID:27100822|PMID:27153395|PMID:27182706|PMID:27220833|PMID:2733290|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27498076|PMID:27504462 8719462 Lmna lamin A/C gene DOID:0050440 familial partial lipodystrophy ISO RGD:732790 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Familial partial lipodystrophy | ClinVar Annotator: match by term: LIPODYSTROPHY, REVERSE PARTIAL | ClinVar Annotator: match by term: Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules | ClinVar Annotator: match by term: Lipodystrophy, reverse partial PMID:27506821|PMID:27529282|PMID:2753225|PMID:27532257|PMID:27585670|PMID:27600705|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27845687|PMID:27854218|PMID:27884249|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28074886|PMID:28082330|PMID:28087566|PMID:28255936|PMID:28341588|PMID:28349240|PMID:28416588|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28874324|PMID:28878402|PMID:29040816|PMID:29078011|PMID:29095976|PMID:29121657|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29253866|PMID:29255176|PMID:29431110|PMID:29438482|PMID:29540472|PMID:29551499|PMID:29557732|PMID:29620724|PMID:29693488|PMID:29709087|PMID:29773157|PMID:29791652|PMID:29892087|PMID:29895224|PMID:29943882|PMID:29952368|PMID:29961767|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30055862|PMID:30107846|PMID:30122538|PMID:30137533|PMID:30165155|PMID:30165862|PMID:30177912|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30429050|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30595509|PMID:30615648|PMID:30665423|PMID:30739589|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30919684|PMID:31019283|PMID:31194872|PMID:31303467|PMID:31383942|PMID:31428229|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31521807|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31931689|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32193531|PMID:32376792|PMID:32413188|PMID:32455078|PMID:32456328|PMID:32461654|PMID:32475984|PMID:32508047|PMID:32571898|PMID:32616434|PMID:32685188|PMID:32698523|PMID:32727917|PMID:32746448|PMID:32792077|PMID:32793522|PMID:32818388|PMID:32826072|PMID:32880476|PMID:33038109|PMID:33258288|PMID:33304817|PMID:33407844|PMID:33422685|PMID:33458588|PMID:33500567|PMID:33502018|PMID:33673806|PMID:33713793|PMID:33803191|PMID:33803652|PMID:33887581|PMID:33893211|PMID:33916827|PMID:33963534|PMID:34011823|PMID:34135346|PMID:34240052|PMID:34292171|PMID:34340952|PMID:34363016|PMID:34495297|PMID:34680903|PMID:34720847|PMID:34768595|PMID:34788595|PMID:34808346|PMID:34862408|PMID:34865644|PMID:34935411|PMID:34975533|PMID:34999423|PMID:35026164|PMID:35291351|PMID:35449878|PMID:35526016|PMID:35528128|PMID:35533453|PMID:35535697|PMID:35772917|PMID:35898701|PMID:36264615|PMID:36267857|PMID:36293084|PMID:36397776|PMID:36646731|PMID:36704457|PMID:36788754|PMID:36971006|PMID:37246508|PMID:37589201|PMID:37652022|PMID:37679847|PMID:37685926|PMID:37904629|PMID:38247853|PMID:38254962|PMID:38473809|PMID:38489124|PMID:38630155|PMID:38691546|PMID:39825153|PMID:4740717|PMID:8619549|PMID:9106535|PMID:9500556|PMID:9536098 8719462 Lmna lamin A/C gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:732790 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:11102973|PMID:25741868|PMID:29237675|PMID:29952368|PMID:32818388|PMID:33407844 8719462 Lmna lamin A/C gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10908904|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11015599|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11792811|PMID:11799477|PMID:11897440|PMID:11901143|PMID:11973618|PMID:12015247|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12376891|PMID:12467734|PMID:12467752|PMID:12486434|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12716787|PMID:12729796|PMID:12768443|PMID:12783988|PMID:12788894|PMID:12920062|PMID:12927424|PMID:12927431|PMID:13129702|PMID:14569138|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:14985400|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15148145|PMID:15184648|PMID:15219508|PMID:15298354|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15539782|PMID:15678000|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15832002|PMID:15919811|PMID:15961312|PMID:15965218|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16008174|PMID:16061563|PMID:16084085|PMID:16126733|PMID:16156025|PMID:16174718|PMID:16181372|PMID:16186497|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16478798|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16772334|PMID:16809772|PMID:16891232|PMID:16965317|PMID:16990647|PMID:17076270|PMID:17107595|PMID:17136397|PMID:17250669|PMID:17250699|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17469202|PMID:17536044|PMID:17576681|PMID:17599607|PMID:17612587|PMID:17711925|PMID:17848409|PMID:17987279|PMID:18031308|PMID:18031519|PMID:18035086|PMID:18035816|PMID:18182166|PMID:18348272|PMID:1839274|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18480576|PMID:1849984|PMID:18502446|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18796515|PMID:18926329|PMID:19011997|PMID:19084400|PMID:19095983|PMID:19167105|PMID:19172989|PMID:19201734|PMID:19220582|PMID:19318026|PMID:19328042|PMID:19401371|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19446900|PMID:19524666|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19768759|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19875478|PMID:19882644|PMID:19933576|PMID:20041886|PMID:2007407|PMID:20074070|PMID:20092787|PMID:20127487|PMID:20130076|PMID:20155465|PMID:20160190|PMID:20307303|PMID:20376791|PMID:20472316|PMID:20497714|PMID:20498703|PMID:20576434|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20709679|PMID:20848652|PMID:20886652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21179469|PMID:21315846|PMID:21346069|PMID:21462202|PMID:21483645|PMID:21520333|PMID:21535365|PMID:21632249|PMID:21653823|PMID:21818408|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21883346|PMID:21922471|PMID:21970986|PMID:21980471|PMID:22071332|PMID:22090424|PMID:22103509|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22355414|PMID:22431096|PMID:22464770|PMID:22491857|PMID:22526018|PMID:22549407|PMID:22570643|PMID:22611635|PMID:22685055|PMID:2270059|PMID:22700598|PMID:2280636|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23029315|PMID:23062543|PMID:23077635|PMID:23141186|PMID:23142632|PMID:23150259|PMID:23183350|PMID:23243001|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23360689|PMID:23362510|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23666920|PMID:23701190|PMID:23702046 8719462 Lmna lamin A/C gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:23757202|PMID:23783098|PMID:23785128|PMID:23804595|PMID:23853504|PMID:23861362|PMID:23912926|PMID:23969228|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24080738|PMID:24169522|PMID:24237251|PMID:24305605|PMID:24349489|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24508248|PMID:24623722|PMID:24642510|PMID:24656463|PMID:24687084|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24806962|PMID:24846508|PMID:24861648|PMID:24915601|PMID:24943589|PMID:24990833|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25214167|PMID:2526018|PMID:25286833|PMID:25324471|PMID:25327215|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25567453|PMID:25572245|PMID:25617006|PMID:25637381|PMID:25656816|PMID:25741868|PMID:25793944|PMID:25819867|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25886484|PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:25996830|PMID:26034236|PMID:26084686|PMID:26098624|PMID:26165385|PMID:26183555|PMID:26199943|PMID:26323789|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26392352|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26567375|PMID:26573435|PMID:26602028|PMID:26620845|PMID:26662654|PMID:26724531|PMID:26752647|PMID:26899768|PMID:26900797|PMID:27000522|PMID:27034135|PMID:27034136|PMID:27066507|PMID:27111165|PMID:27153395|PMID:27182706|PMID:27199538|PMID:27220833|PMID:27234031|PMID:27235420|PMID:27363342|PMID:27373676|PMID:27374873|PMID:27405450|PMID:27421120|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27534416|PMID:27585670|PMID:27600705|PMID:27633507|PMID:27650965|PMID:27673727|PMID:27707468|PMID:27708273|PMID:27723096|PMID:27813223|PMID:27841901|PMID:27841971|PMID:27854218|PMID:27876398|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28152038|PMID:28166811|PMID:28255936|PMID:28333919|PMID:28341588|PMID:28403181|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28620495|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878402|PMID:29047356|PMID:29057633|PMID:29078011|PMID:29095976|PMID:29121657|PMID:29149195|PMID:29211919|PMID:29237675|PMID:29237690|PMID:29250285|PMID:29367541|PMID:29382405|PMID:29386531|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29511324|PMID:29540472|PMID:29676528|PMID:29693488|PMID:29753763|PMID:29770364|PMID:29791652|PMID:29845577|PMID:29893365|PMID:29907918|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30055862|PMID:30078822|PMID:30083363|PMID:30107846|PMID:30123186|PMID:30137533|PMID:30165862|PMID:30287275|PMID:30402260|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30901896|PMID:30954027|PMID:31019283|PMID:31293201|PMID:31296869|PMID:31303467|PMID:31317183|PMID:31378009|PMID:31383942|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31847799|PMID:32004434|PMID:32155092|PMID:32160020|PMID:32456328|PMID:32571898|PMID:32954377|PMID:33673806|PMID:34008892|PMID:8619549|PMID:8621584|PMID:9106535|PMID:9536098 8719462 Lmna lamin A/C gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732790 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10908904|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11015599|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11792811|PMID:11799477|PMID:11897440|PMID:11901143|PMID:11973618|PMID:12015247|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12376891|PMID:12467734|PMID:12467752|PMID:12486434|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12716787|PMID:12729796|PMID:12768443|PMID:12783988|PMID:12788894|PMID:12920062|PMID:12927424|PMID:12927431|PMID:13129702|PMID:14569138|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:14985400|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15148145|PMID:15184648|PMID:15219508|PMID:15298354|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15539782|PMID:15678000|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15832002|PMID:15919811|PMID:15961312|PMID:15965218|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16008174|PMID:16061563|PMID:16084085|PMID:16126733|PMID:16156025|PMID:16174718|PMID:16181372|PMID:16186497|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16478798|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16772334|PMID:16809772|PMID:16891232|PMID:16965317|PMID:16990647|PMID:17076270|PMID:17107595|PMID:17136397|PMID:17250669|PMID:17250699|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17536044|PMID:17576681|PMID:17599607|PMID:17612587|PMID:17711925|PMID:17848409|PMID:17893350|PMID:17987279|PMID:18031308|PMID:18031519|PMID:18035086|PMID:18035816|PMID:18182166|PMID:18348272|PMID:1839274|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18480576|PMID:1849984|PMID:18502446|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18796515|PMID:18926329|PMID:19011997|PMID:19084400|PMID:19095983|PMID:19167105|PMID:19172989|PMID:19201734|PMID:19220582|PMID:19318026|PMID:19328042|PMID:19401371|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19446900|PMID:19524666|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19768759|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19875478|PMID:19882644|PMID:19933576|PMID:20041886|PMID:2007407|PMID:20074070|PMID:20092787|PMID:20127487|PMID:20130076|PMID:20155465|PMID:20160190|PMID:20307303|PMID:20376791|PMID:20472316|PMID:20497714|PMID:20498703|PMID:20576434|PMID:20580717|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20709679|PMID:20848652|PMID:20886652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21179469|PMID:21251803|PMID:21315846|PMID:21346069|PMID:21462202|PMID:21483645|PMID:21520333|PMID:21535365|PMID:21632249|PMID:21653823|PMID:21738662|PMID:21818408|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21883346|PMID:21922471|PMID:21970986|PMID:21980471|PMID:22071332|PMID:22090424|PMID:22103509|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22355414|PMID:22431096|PMID:22464770|PMID:22491857|PMID:22526018|PMID:22549407|PMID:22570643|PMID:22611635|PMID:22685055|PMID:2270059|PMID:22700598|PMID:2280636|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23029315|PMID:23062543|PMID:23077635|PMID:23141186|PMID:23142632|PMID:23150259|PMID:23183350|PMID:23243001|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23360689|PMID:23362510 8719462 Lmna lamin A/C gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732790 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23666920|PMID:23701190|PMID:23702046|PMID:23757202|PMID:23783098|PMID:23785128|PMID:23804595|PMID:23853504|PMID:23861362|PMID:23912926|PMID:23969228|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24080738|PMID:24169522|PMID:24237251|PMID:24305605|PMID:24349489|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24508248|PMID:24623722|PMID:24642510|PMID:24656463|PMID:24687084|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24806962|PMID:24846508|PMID:24861648|PMID:24915601|PMID:24943589|PMID:24990833|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25214167|PMID:2526018|PMID:25286833|PMID:25324471|PMID:25327215|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25572245|PMID:25617006|PMID:25637381|PMID:25656816|PMID:25741868|PMID:25793944|PMID:25819867|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25886484|PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:25996830|PMID:26034236|PMID:26084686|PMID:26098624|PMID:26165385|PMID:26183555|PMID:26199943|PMID:26323789|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26392352|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26567375|PMID:26573435|PMID:26602028|PMID:26620845|PMID:26662654|PMID:26670336|PMID:26724531|PMID:26752647|PMID:26899768|PMID:26900797|PMID:27000522|PMID:27034135|PMID:27034136|PMID:27066507|PMID:27111165|PMID:27153395|PMID:27182706|PMID:27199538|PMID:27220833|PMID:27234031|PMID:27235420|PMID:27363342|PMID:27373676|PMID:27374873|PMID:27405450|PMID:27421120|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27534416|PMID:27585670|PMID:27600705|PMID:27633507|PMID:27650965|PMID:27673727|PMID:27707468|PMID:27708273|PMID:27723096|PMID:27813223|PMID:27841901|PMID:27841971|PMID:27854218|PMID:27876398|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28152038|PMID:28166811|PMID:28255936|PMID:28333919|PMID:28341588|PMID:28403181|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28620495|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:29047356|PMID:29057633|PMID:29078011|PMID:29095976|PMID:29121657|PMID:29149195|PMID:29211919|PMID:29237675|PMID:29237690|PMID:29250285|PMID:29367541|PMID:29382405|PMID:29386531|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29511324|PMID:29540472|PMID:29676528|PMID:29693488|PMID:29753763|PMID:29770364|PMID:29791652|PMID:29845577|PMID:29893365|PMID:29907918|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30055862|PMID:30078822|PMID:30083363|PMID:30107846|PMID:30123186|PMID:30137533|PMID:30165862|PMID:30287275|PMID:30402260|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30901896|PMID:30911407|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31293201|PMID:31296869|PMID:31303467|PMID:31317183|PMID:31378009|PMID:31383942|PMID:31447099|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31847799|PMID:32004434|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32297714|PMID:32376792|PMID:32456328|PMID:32571898|PMID:32880476|PMID:32943904|PMID:32954377|PMID:33673806|PMID:34008892|PMID:34213952|PMID:8619549|PMID:8621584|PMID:9106535|PMID:9536098 8719462 Lmna lamin A/C gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732790 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24080738|PMID:24169522|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24508248|PMID:24623722|PMID:24642510|PMID:24656463|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24806962|PMID:24846508|PMID:24861648|PMID:24915601|PMID:24943589|PMID:24990833|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25214167|PMID:2526018|PMID:25286833|PMID:25324471|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25617006|PMID:25637381|PMID:25656816|PMID:25741868|PMID:25793944|PMID:25819867|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25886484|PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:25996830|PMID:26034236|PMID:26084686|PMID:26098624|PMID:26165385|PMID:26183555|PMID:26199943|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26573435|PMID:26602028|PMID:26662654|PMID:26670336|PMID:26752647|PMID:26899768|PMID:26900797|PMID:27000522|PMID:27034136|PMID:27066507|PMID:27153395|PMID:27182706|PMID:27220833|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841901|PMID:27841971|PMID:27854218|PMID:27876398|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28152038|PMID:28255936|PMID:28333919|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28620495|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:29057633|PMID:29078011|PMID:29095976|PMID:29121657|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29382405|PMID:29386531|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29540472|PMID:29693488|PMID:29791652|PMID:29845577|PMID:29907918|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30055862|PMID:30078822|PMID:30107846|PMID:30137533|PMID:30165862|PMID:30287275|PMID:30402260|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30901896|PMID:30911407|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31296869|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31498906|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31847799|PMID:31857427|PMID:32004434|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32297714|PMID:32376792|PMID:32456328|PMID:32571898|PMID:32746448|PMID:32793522|PMID:32880476|PMID:32943904|PMID:32954377|PMID:33258288|PMID:33673806|PMID:34008892|PMID:34213952|PMID:8619549|PMID:8621584|PMID:9106535|PMID:9536098 8719462 Lmna lamin A/C gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732790 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24080738|PMID:24169522|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24508248|PMID:24623722|PMID:24642510|PMID:24656463|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24806962|PMID:24846508|PMID:24861648|PMID:24915601|PMID:24943589|PMID:24990833|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25214167|PMID:2526018|PMID:25286833|PMID:25324471|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25617006|PMID:25637381|PMID:25656816|PMID:25741868|PMID:25793944|PMID:25819867|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25886484|PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:25996830|PMID:26034236|PMID:26084686|PMID:26098624|PMID:26165385|PMID:26183555|PMID:26199943|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26573435|PMID:26602028|PMID:26662654|PMID:26670336|PMID:26752647|PMID:26899768|PMID:26900797|PMID:27000522|PMID:27034136|PMID:27066507|PMID:27153395|PMID:27182706|PMID:27220833|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841901|PMID:27841971|PMID:27854218|PMID:27876398|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28152038|PMID:28255936|PMID:28333919|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28620495|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:29057633|PMID:29078011|PMID:29095976|PMID:29121657|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29382405|PMID:29386531|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29540472|PMID:29693488|PMID:29791652|PMID:29845577|PMID:29907918|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30055862|PMID:30078822|PMID:30107846|PMID:30137533|PMID:30165862|PMID:30287275|PMID:30402260|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30901896|PMID:30911407|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31296869|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31498906|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31847799|PMID:31857427|PMID:32004434|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32297714|PMID:32376792|PMID:32456328|PMID:32571898|PMID:32746448|PMID:32793522|PMID:32880476|PMID:32943904|PMID:32954377|PMID:33258288|PMID:33673806|PMID:34008892|PMID:34213952|PMID:35535697|PMID:8619549|PMID:8621584|PMID:9106535|PMID:9536098 8719462 Lmna lamin A/C gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732790 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10908904|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11015599|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11792811|PMID:11799477|PMID:11897440|PMID:11901143|PMID:11973618|PMID:12015247|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12376891|PMID:12467734|PMID:12467752|PMID:12486434|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12729796|PMID:12768443|PMID:12783988|PMID:12788894|PMID:12920062|PMID:12927424|PMID:12927431|PMID:12938084|PMID:13129702|PMID:14510863|PMID:14569138|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:14985400|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15148145|PMID:15184648|PMID:15219508|PMID:15298354|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15476822|PMID:15531479|PMID:15539782|PMID:15678000|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15832002|PMID:15843404|PMID:15866440|PMID:15919811|PMID:15961312|PMID:15965218|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16008174|PMID:16061563|PMID:16084085|PMID:16126733|PMID:16156025|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16459536|PMID:16478798|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16772334|PMID:16809772|PMID:16891232|PMID:16965317|PMID:16990647|PMID:17107595|PMID:17136397|PMID:17250669|PMID:17250699|PMID:17325275|PMID:17334235|PMID:17347251|PMID:1737707|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17599607|PMID:17612587|PMID:17711925|PMID:17760566|PMID:17848409|PMID:17893350|PMID:17935239|PMID:17967828|PMID:17987279|PMID:18031308|PMID:18031519|PMID:18035086|PMID:18035816|PMID:18041775|PMID:18182166|PMID:18337098|PMID:18348272|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18480576|PMID:1849984|PMID:18502446|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18796515|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19084400|PMID:19095983|PMID:19167105|PMID:19172989|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19328042|PMID:19401371|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19446900|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19768759|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19875478|PMID:19882644|PMID:19933576|PMID:20041886|PMID:2007407|PMID:20074070|PMID:20092787|PMID:20127487|PMID:20130076|PMID:20155465|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20376791|PMID:20472316|PMID:20497714|PMID:20498703|PMID:20576434|PMID:20580717|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20837309|PMID:20848652|PMID:20886652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21179469|PMID:21251803|PMID:21315846|PMID:21346069|PMID:21462202|PMID:21479595|PMID:21483645|PMID:21520333|PMID:21535365|PMID:21632249|PMID:21653823|PMID:21738662|PMID:21818408|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21883346|PMID:21945321|PMID:21970986|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22090424|PMID:22103509|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22355414|PMID:22413764|PMID:22431096|PMID:22464770|PMID:22491857|PMID:22526018|PMID:22549407|PMID:22570643|PMID:22611635|PMID:22685055 8719462 Lmna lamin A/C gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732790 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:2270059|PMID:22700598|PMID:22806367|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23029315|PMID:23062543|PMID:23077635|PMID:23141186|PMID:23142632|PMID:23150259|PMID:23183350|PMID:23217256|PMID:23243001|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23360689|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23666920|PMID:23701190|PMID:23702046|PMID:23703017|PMID:23757202|PMID:23783098|PMID:23785128|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23912926|PMID:23969228|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24034385|PMID:24037902|PMID:24055113|PMID:24058181|PMID:24080738|PMID:24108105|PMID:24169522|PMID:24237251|PMID:24305605|PMID:24349489|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24508248|PMID:24623722|PMID:24642510|PMID:24656463|PMID:24687084|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24806962|PMID:24846508|PMID:24861648|PMID:24915601|PMID:24943589|PMID:24990833|PMID:25001855|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25256213|PMID:2526018|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25327215|PMID:25343322|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25469153|PMID:25481314|PMID:25524705|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25572245|PMID:25617006|PMID:25637381|PMID:25640679|PMID:25656816|PMID:25741868|PMID:25793944|PMID:25819867|PMID:25823658|PMID:25832542|PMID:25873806|PMID:25885670|PMID:25886484|PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:25996830|PMID:26027246|PMID:26034236|PMID:26084686|PMID:26098624|PMID:26165385|PMID:26183555|PMID:26199943|PMID:26220970|PMID:26323789|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26392352|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26567375|PMID:26573435|PMID:26575312|PMID:26602028|PMID:26620845|PMID:26659599|PMID:26662654|PMID:26670336|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26900797|PMID:26976018|PMID:27000522|PMID:27034135|PMID:27066507|PMID:27100822|PMID:27111165|PMID:27153395|PMID:27182706|PMID:27199538|PMID:27220833|PMID:27234031|PMID:27235420|PMID:27332903|PMID:27363342|PMID:27373676|PMID:27374873|PMID:27405450|PMID:27421120|PMID:27447704|PMID:27461183|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27534416|PMID:27585670|PMID:27595935|PMID:27600705|PMID:27633507|PMID:27650965|PMID:27673727|PMID:27707468|PMID:27708273|PMID:27723096|PMID:27813223|PMID:27841901|PMID:27841971|PMID:27854218|PMID:27876398|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28152038|PMID:28255936|PMID:28333919|PMID:28341588|PMID:28403181|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28620495|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28855170|PMID:28874324|PMID:28878338|PMID:28878402|PMID:28912206|PMID:28987496|PMID:29047356|PMID:29057633|PMID:29078011|PMID:29095976|PMID:29104234|PMID:29121657|PMID:29149195|PMID:29211919|PMID:29237675|PMID:29237690|PMID:29250285|PMID:29267953|PMID:29367541|PMID:29382405|PMID:29386531|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29511324|PMID:29540472|PMID:29620724|PMID:29676528|PMID:29693488|PMID:29753763|PMID:29770364|PMID:29791652|PMID:29845577|PMID:29892087|PMID:29893365|PMID:29895224|PMID:29907918|PMID:29943882|PMID:29952368|PMID:29961767|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30019023|PMID:30055862|PMID:30078822|PMID:30083363|PMID:30107846|PMID:30123186|PMID:30137533|PMID:30165155|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30572990|PMID:30696354 8719462 Lmna lamin A/C gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732790 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:30765282|PMID:30847666|PMID:30871747|PMID:30901896|PMID:30911407|PMID:30919684|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31069529|PMID:31194872|PMID:31263448|PMID:31264968|PMID:31270292|PMID:31293201|PMID:31296869|PMID:31303467|PMID:31317183|PMID:31322791|PMID:31378009|PMID:31383942|PMID:31410651|PMID:31434876|PMID:31447099|PMID:31476771|PMID:31498906|PMID:31514951|PMID:31521807|PMID:31525256|PMID:31744510|PMID:31791368|PMID:31829210|PMID:31836692|PMID:31847799|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32297714|PMID:32376792|PMID:32413188|PMID:32455078|PMID:32456328|PMID:32458740|PMID:32475984|PMID:32528171|PMID:32548202|PMID:32571898|PMID:32666643|PMID:32685188|PMID:32727917|PMID:32746448|PMID:32789579|PMID:32789750|PMID:32793522|PMID:32818388|PMID:32826072|PMID:32846814|PMID:32880476|PMID:32943904|PMID:32954377|PMID:33250842|PMID:33258288|PMID:33293369|PMID:33407844|PMID:33422685|PMID:33458588|PMID:33502018|PMID:33673806|PMID:33916827|PMID:33940562|PMID:33963534|PMID:34008892|PMID:34135346|PMID:34213952|PMID:34240052|PMID:34360639|PMID:34363016|PMID:34495297|PMID:34638534|PMID:34680903|PMID:34720847|PMID:34768595|PMID:34773379|PMID:34862408|PMID:34975533|PMID:34999423|PMID:35026164|PMID:35239206|PMID:35434999|PMID:35449878|PMID:35526016|PMID:35535697|PMID:35772917|PMID:36397776|PMID:4684700|PMID:4740717|PMID:8619549|PMID:8621584|PMID:9106535|PMID:9500556|PMID:9536098 8719462 Lmna lamin A/C gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732790 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10908904|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11015599|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11792811|PMID:11799477|PMID:11897440|PMID:11901143|PMID:11973618|PMID:12015247|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12376891|PMID:12467734|PMID:12467752|PMID:12486434|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12716787|PMID:12729796|PMID:12768443|PMID:12783988|PMID:12788894|PMID:12920062|PMID:12927424|PMID:12927431|PMID:12938084|PMID:13129702|PMID:14510863|PMID:14569138|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:14985400|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15148145|PMID:15184648|PMID:15219508|PMID:15286156|PMID:15298354|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15476822|PMID:15531479|PMID:15539782|PMID:15678000|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15832002|PMID:15843404|PMID:15866440|PMID:15919811|PMID:15961312|PMID:15965218|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16008174|PMID:16061563|PMID:16084085|PMID:16126733|PMID:16156025|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16459536|PMID:16478798|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16772334|PMID:16809772|PMID:16825282|PMID:16891232|PMID:16965317|PMID:16990647|PMID:17107595|PMID:17136397|PMID:17150192|PMID:17250669|PMID:17250699|PMID:17325275|PMID:17334235|PMID:17347251|PMID:1737707|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17524034|PMID:17536044|PMID:17556535|PMID:17576681|PMID:17599607|PMID:17612587|PMID:17711925|PMID:17760566|PMID:17848409|PMID:17893350|PMID:17935239|PMID:17967828|PMID:17987279|PMID:18031308|PMID:18031519|PMID:18035086|PMID:18035816|PMID:18041775|PMID:18182166|PMID:18337098|PMID:18348272|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18480576|PMID:1849984|PMID:18502446|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18796515|PMID:18808171|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19084400|PMID:19095983|PMID:19167105|PMID:19172989|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19258295|PMID:19283854|PMID:19318026|PMID:19328042|PMID:19401371|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19446900|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19768759|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19875478|PMID:19882644|PMID:19933576|PMID:20041886|PMID:2007407|PMID:20074070|PMID:20092787|PMID:20127487|PMID:20130076|PMID:20155465|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20376791|PMID:20472316|PMID:20497714|PMID:20498703|PMID:20576434|PMID:20580717|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20837309|PMID:20848652|PMID:20886652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21179469|PMID:21251803|PMID:21315846|PMID:21346069|PMID:21400569|PMID:21462202|PMID:21479595|PMID:21483645|PMID:21520333|PMID:21535365|PMID:21632249|PMID:21653823|PMID:21738662|PMID:21818408|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21883346|PMID:21922471|PMID:21945321|PMID:21970986|PMID:21980471|PMID:21989830|PMID:22068161|PMID:22071332|PMID:22090424|PMID:22103509|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558 8719462 Lmna lamin A/C gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732790 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:22331516|PMID:22337857|PMID:22355414|PMID:22413764|PMID:22431096|PMID:22464770|PMID:22491857|PMID:22526018|PMID:22549407|PMID:22570643|PMID:22611635|PMID:22685055|PMID:2270059|PMID:22700598|PMID:22761994|PMID:22806367|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23029315|PMID:23062543|PMID:23077635|PMID:23141186|PMID:23142632|PMID:23150259|PMID:23183350|PMID:23217256|PMID:23243001|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23360689|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23666920|PMID:23701190|PMID:23702046|PMID:23703017|PMID:23757202|PMID:23783098|PMID:23785128|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23912926|PMID:23969228|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24034385|PMID:24037902|PMID:24055113|PMID:24058181|PMID:24080738|PMID:24108105|PMID:24169522|PMID:24237251|PMID:24305605|PMID:24349489|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24508248|PMID:24623722|PMID:24639906|PMID:24642510|PMID:24656463|PMID:24687084|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24806962|PMID:24846508|PMID:24861648|PMID:24915601|PMID:24943589|PMID:24990833|PMID:25001855|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25256213|PMID:2526018|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25327215|PMID:25343322|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25469153|PMID:25481314|PMID:25524705|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25572245|PMID:25617006|PMID:25637381|PMID:25640679|PMID:25656816|PMID:25741868|PMID:25793944|PMID:25819867|PMID:25823658|PMID:25832542|PMID:25873806|PMID:25885670|PMID:25886484|PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:25996830|PMID:26027246|PMID:26034236|PMID:26084686|PMID:26098624|PMID:26165385|PMID:26183555|PMID:26199943|PMID:26220970|PMID:262236|PMID:26323789|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26392352|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26567375|PMID:26573435|PMID:26575312|PMID:26602028|PMID:26620845|PMID:26659599|PMID:26662654|PMID:26670336|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26900797|PMID:26976018|PMID:27000522|PMID:27034135|PMID:27066507|PMID:27100822|PMID:27111165|PMID:27153395|PMID:27182706|PMID:27199538|PMID:27220833|PMID:27234031|PMID:27235420|PMID:27265359|PMID:2733290|PMID:27332903|PMID:27363342|PMID:27373676|PMID:27374873|PMID:27405450|PMID:27421120|PMID:27447704|PMID:27461183|PMID:27498076|PMID:27504462|PMID:27506821|PMID:27529282|PMID:2753225|PMID:27532257|PMID:27534416|PMID:27585670|PMID:27595935|PMID:27600705|PMID:27633507|PMID:27650965|PMID:27673727|PMID:27707468|PMID:27708273|PMID:27723096|PMID:27813223|PMID:27841901|PMID:27841971|PMID:27845687|PMID:27854218|PMID:27876398|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:27938454|PMID:28069705|PMID:28074886|PMID:28082330|PMID:28087566|PMID:28118183|PMID:28125586|PMID:28152038|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28333919|PMID:28341588|PMID:28403181|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28620495|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28855170|PMID:28874324|PMID:28878338|PMID:28878402|PMID:28912206|PMID:28987496|PMID:29047356|PMID:29057633|PMID:29078011|PMID:29095976|PMID:29104234|PMID:29121657|PMID:29149195|PMID:29211919|PMID:29237675|PMID:29237690|PMID:29247119|PMID:29250285|PMID:29253866|PMID:29255176|PMID:29267953|PMID:29367541|PMID:29382405|PMID:29386531|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29511324|PMID:29540472|PMID:29557732|PMID:29620724|PMID:29676528|PMID:29693488|PMID:29753763|PMID:29770364|PMID:29773157|PMID:29791652|PMID:29845577|PMID:29892087|PMID:29893365 8719462 Lmna lamin A/C gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732790 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:29895224|PMID:29907918|PMID:29943882|PMID:29952368|PMID:29961767|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30019023|PMID:30055862|PMID:30078822|PMID:30083363|PMID:30107846|PMID:30122538|PMID:30123186|PMID:30137533|PMID:30165155|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30429050|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30572990|PMID:30696354|PMID:30765282|PMID:30838351|PMID:30847666|PMID:30871747|PMID:30901896|PMID:30911407|PMID:30919684|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31038196|PMID:31042466|PMID:31069529|PMID:31194872|PMID:31263448|PMID:31264968|PMID:31270292|PMID:31293201|PMID:31296869|PMID:31303467|PMID:31317183|PMID:31322791|PMID:31378009|PMID:31383942|PMID:31410651|PMID:31428229|PMID:31434876|PMID:31447099|PMID:31453089|PMID:31476771|PMID:31498906|PMID:31514951|PMID:31521807|PMID:31525256|PMID:31744510|PMID:31791368|PMID:31829210|PMID:31836692|PMID:31847799|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32193531|PMID:32297714|PMID:32376792|PMID:32413188|PMID:32455078|PMID:32456328|PMID:32458740|PMID:32475984|PMID:32528171|PMID:32548202|PMID:32571898|PMID:32616434|PMID:32666643|PMID:32685188|PMID:32698523|PMID:32727917|PMID:32746448|PMID:32789579|PMID:32789750|PMID:32792077|PMID:32793522|PMID:32818388|PMID:32826072|PMID:32846814|PMID:32880476|PMID:32943904|PMID:32954377|PMID:33038109|PMID:33250842|PMID:33258288|PMID:33293369|PMID:33407844|PMID:33422685|PMID:33458588|PMID:33502018|PMID:33552729|PMID:33673806|PMID:33713793|PMID:33803191|PMID:33803652|PMID:33916827|PMID:33940562|PMID:33963534|PMID:34008892|PMID:34011823|PMID:34135346|PMID:34213952|PMID:34240052|PMID:34340952|PMID:34360639|PMID:34363016|PMID:34495297|PMID:34621001|PMID:34638534|PMID:34680903|PMID:34720847|PMID:34768595|PMID:34773379|PMID:34788595|PMID:34808346|PMID:34862408|PMID:34865644|PMID:34935411|PMID:34975533|PMID:34999423|PMID:35026164|PMID:35239206|PMID:35284542|PMID:35291351|PMID:35434999|PMID:35449878|PMID:35470684|PMID:35526016|PMID:35535697|PMID:35581137|PMID:35653365|PMID:35772917|PMID:36136372|PMID:36178741|PMID:36267857|PMID:36293084|PMID:36397776|PMID:36548481|PMID:36646731|PMID:37178278|PMID:37246508|PMID:37589201|PMID:37679847|PMID:4684700|PMID:4740717|PMID:8619549|PMID:8621584|PMID:9106535|PMID:9500556|PMID:9536098 8719462 Lmna lamin A/C gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732790 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22337857|PMID:22355414|PMID:22431096|PMID:22464770|PMID:22491857|PMID:22526018|PMID:22549407|PMID:22570643|PMID:22611635|PMID:22685055|PMID:2270059|PMID:22700598|PMID:22761994|PMID:22806367|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23029315|PMID:23062543|PMID:23077635|PMID:23141186|PMID:23142632|PMID:23150259|PMID:23183350|PMID:23217256|PMID:23243001|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23360689|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23483212|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23666920|PMID:23701190|PMID:23702046|PMID:23703017|PMID:23757202|PMID:23783098|PMID:23785128|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23912926|PMID:23969228|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24034385|PMID:24037902|PMID:24055113|PMID:24058181|PMID:24080738|PMID:24108105|PMID:24169522|PMID:24237251|PMID:24305605|PMID:24349489|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24508248|PMID:24623722|PMID:24639906|PMID:24642510|PMID:24656463|PMID:24687084|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24806962|PMID:24846508|PMID:24861648|PMID:24915601|PMID:24943589|PMID:24990833|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25256213|PMID:25274841|PMID:25286833|PMID:25319090|PMID:25324471|PMID:25327215|PMID:25343322|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25469153|PMID:25481314|PMID:25524705|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25569433|PMID:25572245|PMID:25617006|PMID:25637381|PMID:25640679|PMID:25656816|PMID:25741868|PMID:25793944|PMID:25819867|PMID:25823658|PMID:25832542|PMID:25873806|PMID:25885670|PMID:25886484|PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:25996830|PMID:26027246|PMID:26034236|PMID:26084686|PMID:26098624|PMID:26165385|PMID:26183555|PMID:26199943|PMID:26220970|PMID:262236|PMID:26323789|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26392352|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26567375|PMID:26573435|PMID:26575312|PMID:26602028|PMID:26620845|PMID:26659599|PMID:26662654|PMID:26670336|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26900797|PMID:26976018|PMID:27000522|PMID:27034135|PMID:27034136|PMID:27066507|PMID:27100822|PMID:27111165|PMID:27153395|PMID:27182706|PMID:27199538|PMID:27220833|PMID:27234031|PMID:27235420|PMID:27265359|PMID:2733290|PMID:27332903|PMID:27363342|PMID:27373676|PMID:27374873|PMID:27405450|PMID:27421120|PMID:27447704|PMID:27461183|PMID:27498076|PMID:27504462|PMID:27506821|PMID:27529282|PMID:2753225|PMID:27532257|PMID:27534416|PMID:27585670|PMID:27595935|PMID:27600705|PMID:27633507|PMID:27650965|PMID:27673727|PMID:27707468|PMID:27708273|PMID:27717888|PMID:27723096|PMID:27813223|PMID:27841901|PMID:27841971|PMID:27845687|PMID:27854218|PMID:27876398|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:27938454|PMID:28069705|PMID:28074886|PMID:28082330|PMID:28087566|PMID:28118183|PMID:28123761|PMID:28125586|PMID:28152038|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28333919|PMID:28341588|PMID:28349240|PMID:28403181|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28620495|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28855170|PMID:28874324|PMID:28878338|PMID:28878402|PMID:28912206|PMID:28987496|PMID:29047356|PMID:29057633|PMID:29078011|PMID:29095976|PMID:29104234|PMID:29121657|PMID:29149195|PMID:29211919|PMID:29237675|PMID:29237690|PMID:29247119|PMID:29250285|PMID:29253866|PMID:29255176|PMID:29267953|PMID:29367541|PMID:29382405|PMID:29386531|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29540472|PMID:29557732|PMID:29620724 8719462 Lmna lamin A/C gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732790 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:29676528|PMID:29693488|PMID:29753763|PMID:29770364|PMID:29773157|PMID:29791652|PMID:29845577|PMID:29892087|PMID:29893365|PMID:29895224|PMID:29907918|PMID:29943882|PMID:29947763|PMID:29952368|PMID:29961767|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30055862|PMID:30078822|PMID:30083363|PMID:30107846|PMID:30122538|PMID:30123186|PMID:30137533|PMID:30165155|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30199159|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30429050|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30572990|PMID:30595509|PMID:30696354|PMID:30739589|PMID:30765282|PMID:30838351|PMID:30847666|PMID:30871747|PMID:30901896|PMID:30911407|PMID:30919684|PMID:31006814|PMID:31019283|PMID:31038196|PMID:31069529|PMID:31127727|PMID:31194872|PMID:31208058|PMID:31263448|PMID:31264968|PMID:31270292|PMID:31293201|PMID:31296869|PMID:31303467|PMID:31317183|PMID:31322791|PMID:31378009|PMID:31383942|PMID:31402444|PMID:31410651|PMID:31428229|PMID:31434876|PMID:31447099|PMID:31453089|PMID:31476771|PMID:31498906|PMID:31514951|PMID:31521807|PMID:31525256|PMID:31527676|PMID:31744510|PMID:31791368|PMID:31794942|PMID:31829210|PMID:31836692|PMID:31847799|PMID:31857427|PMID:31931689|PMID:31957533|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32021920|PMID:32041611|PMID:32041989|PMID:32083564|PMID:32155092|PMID:32160020|PMID:32193531|PMID:32297714|PMID:32376792|PMID:32413188|PMID:32455078|PMID:32456328|PMID:32458740|PMID:32461654|PMID:32475984|PMID:32517491|PMID:32528171|PMID:32548202|PMID:32571898|PMID:32616434|PMID:32666643|PMID:32685188|PMID:32698523|PMID:32727917|PMID:32746448|PMID:32789579|PMID:32789750|PMID:32792077|PMID:32793522|PMID:32818388|PMID:32826072|PMID:32846814|PMID:32880476|PMID:32939435|PMID:32943904|PMID:32954377|PMID:33029862|PMID:33038109|PMID:33250842|PMID:33258288|PMID:33407844|PMID:33422685|PMID:33458588|PMID:33502018|PMID:33552729|PMID:33673806|PMID:33713793|PMID:33803191|PMID:33803652|PMID:33893211|PMID:33916827|PMID:33940562|PMID:33963534|PMID:34008892|PMID:34011823|PMID:34135346|PMID:34213952|PMID:34240052|PMID:34292171|PMID:34317510|PMID:34340952|PMID:34360639|PMID:34363016|PMID:34495297|PMID:34621001|PMID:34638534|PMID:34680903|PMID:34720847|PMID:34768595|PMID:34773379|PMID:34788595|PMID:34808346|PMID:34862408|PMID:34865644|PMID:34935411|PMID:34975533|PMID:34999423|PMID:35026164|PMID:35239206|PMID:35284542|PMID:35291351|PMID:35384599|PMID:35434999|PMID:35449878|PMID:35470684|PMID:35526016|PMID:35528128|PMID:35533453|PMID:35535697|PMID:35581137|PMID:35653365|PMID:35772917|PMID:35887646|PMID:36111332|PMID:36136372|PMID:36178741|PMID:36253810|PMID:36264615|PMID:36267857|PMID:36282542|PMID:36293084|PMID:36397776|PMID:36548481|PMID:36646731|PMID:36704457|PMID:37178278|PMID:37246508|PMID:37589201|PMID:37652022|PMID:37679847|PMID:4684700|PMID:4740717|PMID:8344919|PMID:8619549|PMID:8621584|PMID:9106535|PMID:9500556|PMID:9536098 8719462 Lmna lamin A/C gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732790 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10908904|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11015599|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11138304|PMID:11180602|PMID:11231979|PMID:11344241|PMID:11503164|PMID:11525883|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11792811|PMID:11799477|PMID:11897440|PMID:11901143|PMID:11973618|PMID:12015247|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12376891|PMID:12467734|PMID:12467752|PMID:12486434|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12716787|PMID:12729796|PMID:12748643|PMID:12768443|PMID:12783988|PMID:12788894|PMID:12854972|PMID:12920062|PMID:12927424|PMID:12927431|PMID:12938084|PMID:13129702|PMID:14510863|PMID:14569138|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:14985400|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15148145|PMID:15184648|PMID:15219508|PMID:15286156|PMID:15298354|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15473259|PMID:15475483|PMID:15476822|PMID:15531479|PMID:15539782|PMID:15668447|PMID:15678000|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15832002|PMID:15843404|PMID:15866440|PMID:15919811|PMID:15961312|PMID:15965218|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16008174|PMID:16046620|PMID:16061563|PMID:16084085|PMID:16126733|PMID:16156025|PMID:16174718|PMID:16181372|PMID:16186497|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16459536|PMID:16478798|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16636128|PMID:16671095|PMID:16705075|PMID:16715312|PMID:16738054|PMID:16772334|PMID:16809772|PMID:16825282|PMID:16891232|PMID:16965317|PMID:16990647|PMID:17107595|PMID:17136397|PMID:17150192|PMID:17250669|PMID:17250699|PMID:17274801|PMID:17325275|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17524034|PMID:17536044|PMID:17556535|PMID:17576681|PMID:17599607|PMID:17605093|PMID:17612587|PMID:17711925|PMID:17760566|PMID:17848409|PMID:17893350|PMID:17935239|PMID:17967828|PMID:17987279|PMID:18031308|PMID:18031519|PMID:18035086|PMID:18035816|PMID:18041775|PMID:18337098|PMID:18348272|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18480576|PMID:1849984|PMID:18502446|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18796515|PMID:18808171|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19084400|PMID:19095983|PMID:19167105|PMID:19172989|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19258295|PMID:19283854|PMID:19318026|PMID:19328042|PMID:19401371|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19446900|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19768759|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19875478|PMID:19882644|PMID:19933576|PMID:20041886|PMID:2007407|PMID:20074070|PMID:20092787|PMID:20127487|PMID:20130076|PMID:20155465|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20376791|PMID:20472316|PMID:20497714|PMID:20498703|PMID:20576434|PMID:20580717|PMID:20590677|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20837309|PMID:20848652|PMID:20886652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21179469|PMID:21251803|PMID:21315846|PMID:21346069|PMID:21400569|PMID:21462202|PMID:21465660|PMID:21479595|PMID:21483645|PMID:21520333|PMID:21535365|PMID:21632249|PMID:21653823|PMID:21738662|PMID:21818408|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21883346|PMID:21922471|PMID:21945321|PMID:21970986|PMID:21980471|PMID:21989830 8719462 Lmna lamin A/C gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732790 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:22019351|PMID:22068161|PMID:22071332|PMID:22090424|PMID:22103509|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22337857|PMID:22355414|PMID:22413764|PMID:22431096|PMID:22464770|PMID:22491857|PMID:22526018|PMID:22549407|PMID:22570643|PMID:22611635|PMID:22685055|PMID:2270059|PMID:22700598|PMID:22761994|PMID:22806367|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23029315|PMID:23062543|PMID:23077635|PMID:23141186|PMID:23142632|PMID:23150259|PMID:23183350|PMID:23217256|PMID:23243001|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23360689|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23463027|PMID:23483212|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23666920|PMID:23701190|PMID:23702046|PMID:23703017|PMID:23757202|PMID:23775434|PMID:23783098|PMID:23785128|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23912926|PMID:23969228|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24034385|PMID:24037902|PMID:24055113|PMID:24058181|PMID:24080738|PMID:24108105|PMID:24169522|PMID:24237251|PMID:24305605|PMID:24349489|PMID:24375749|PMID:24386194|PMID:24459210|PMID:24503780|PMID:24508248|PMID:24623722|PMID:24639906|PMID:24642510|PMID:24656463|PMID:24687084|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24806962|PMID:24846508|PMID:24861648|PMID:24915601|PMID:24943589|PMID:24990833|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25256213|PMID:25274841|PMID:25286833|PMID:25319090|PMID:25324471|PMID:25327215|PMID:25343322|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25469153|PMID:25481314|PMID:25524705|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25569433|PMID:25572245|PMID:25617006|PMID:25635128|PMID:25637381|PMID:25640679|PMID:25656816|PMID:25741868|PMID:25793944|PMID:25819867|PMID:25823658|PMID:25832542|PMID:25873806|PMID:25885670|PMID:25886484|PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:25996830|PMID:26027246|PMID:26034236|PMID:26084686|PMID:26098624|PMID:26165385|PMID:26183555|PMID:26199943|PMID:26220970|PMID:262236|PMID:26323789|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26392352|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26567375|PMID:26573435|PMID:26575312|PMID:26602028|PMID:26620845|PMID:26659599|PMID:26662654|PMID:26670336|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26743238|PMID:26752647|PMID:26756202|PMID:26867126|PMID:26899768|PMID:26900797|PMID:26976018|PMID:27000522|PMID:27034135|PMID:27034136|PMID:27066507|PMID:27100822|PMID:27111165|PMID:27153395|PMID:27182706|PMID:27199538|PMID:27220833|PMID:27234031|PMID:27235420|PMID:27265359|PMID:2733290|PMID:27332903|PMID:27363342|PMID:27373676|PMID:27374873|PMID:27405450|PMID:27421120|PMID:27447704|PMID:27461183|PMID:27498076|PMID:27504462|PMID:27506821|PMID:27529282|PMID:2753225|PMID:27532257|PMID:27534416|PMID:27585670|PMID:27595935|PMID:27600705|PMID:27633507|PMID:27650965|PMID:27673727|PMID:27697855|PMID:27707468|PMID:27708273|PMID:27717888|PMID:27723096|PMID:27813223|PMID:27841901|PMID:27841971|PMID:27845687|PMID:27854218|PMID:27876398|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:27938454|PMID:28069705|PMID:28074886|PMID:28082330|PMID:28087566|PMID:28118183|PMID:28123761|PMID:28125586|PMID:28152038|PMID:28199729|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28333919|PMID:28341588|PMID:28349240|PMID:28403181|PMID:28408391|PMID:28416588|PMID:28425981|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28620495|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28855170|PMID:28874324|PMID:28878338|PMID:28878402|PMID:28987496|PMID:29047356|PMID:29057633|PMID:29078011|PMID:29095976|PMID:29104234|PMID:29121657|PMID:29149195 8719462 Lmna lamin A/C gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732790 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:29211919|PMID:29237675|PMID:29237690|PMID:29247119|PMID:29250285|PMID:29253866|PMID:29255176|PMID:29267953|PMID:29367541|PMID:29382405|PMID:29386531|PMID:29431110|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29511324|PMID:29540472|PMID:29551499|PMID:29557732|PMID:29618840|PMID:29620724|PMID:29669293|PMID:29676528|PMID:29693488|PMID:29709087|PMID:29753763|PMID:29770364|PMID:29773157|PMID:29791652|PMID:29845577|PMID:29892087|PMID:29893365|PMID:29895224|PMID:29907918|PMID:29943882|PMID:29947763|PMID:29952368|PMID:29961767|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30055862|PMID:30078822|PMID:30083363|PMID:30107846|PMID:30122538|PMID:30123186|PMID:30137533|PMID:30165155|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30199159|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30405424|PMID:30418556|PMID:30420677|PMID:30429050|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30572990|PMID:30595509|PMID:30615648|PMID:30665423|PMID:30696354|PMID:30739589|PMID:30765282|PMID:30838351|PMID:30847666|PMID:30871747|PMID:30901896|PMID:30911407|PMID:30919684|PMID:31006814|PMID:31019283|PMID:31038196|PMID:31069529|PMID:31127727|PMID:31194872|PMID:31208058|PMID:31263448|PMID:31264968|PMID:31270292|PMID:31293201|PMID:31296869|PMID:31303467|PMID:31317183|PMID:31322791|PMID:31378009|PMID:31383942|PMID:31402444|PMID:31410651|PMID:31428229|PMID:31434876|PMID:31447099|PMID:31453089|PMID:31475473|PMID:31476771|PMID:31498906|PMID:31514951|PMID:31521807|PMID:31525256|PMID:31527676|PMID:31702781|PMID:31744510|PMID:31762841|PMID:31791368|PMID:31794942|PMID:31829210|PMID:31836692|PMID:31847799|PMID:31857427|PMID:31931689|PMID:31957533|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32021920|PMID:32041611|PMID:32041989|PMID:32083564|PMID:32140910|PMID:32155092|PMID:32160020|PMID:32193531|PMID:32231000|PMID:32244403|PMID:32245113|PMID:32297714|PMID:32376792|PMID:32413188|PMID:32455078|PMID:32455813|PMID:32456328|PMID:32458740|PMID:32461654|PMID:32475984|PMID:32508047|PMID:32517491|PMID:32528171|PMID:32548202|PMID:32571898|PMID:32616434|PMID:32657593|PMID:32666643|PMID:32685188|PMID:32695585|PMID:32698523|PMID:32727917|PMID:32740430|PMID:32746448|PMID:32789579|PMID:32789750|PMID:32792077|PMID:32793522|PMID:32818388|PMID:32826072|PMID:32846814|PMID:32880476|PMID:32913962|PMID:32939435|PMID:32943904|PMID:32954377|PMID:33029862|PMID:33038109|PMID:33070394|PMID:33142761|PMID:33170376|PMID:33250842|PMID:33258288|PMID:33304817|PMID:33396724|PMID:33407844|PMID:33422685|PMID:33458588|PMID:33500567|PMID:33502018|PMID:33552729|PMID:33673806|PMID:33713793|PMID:33803191|PMID:33803652|PMID:33824984|PMID:33887581|PMID:33893211|PMID:33916827|PMID:33940562|PMID:33963534|PMID:34008892|PMID:34011823|PMID:34135346|PMID:34213952|PMID:34240052|PMID:34292171|PMID:34317510|PMID:34340952|PMID:34360639|PMID:34363016|PMID:34461741|PMID:34495297|PMID:34621001|PMID:34638534|PMID:34680903|PMID:34720847|PMID:34768595|PMID:34773379|PMID:34788595|PMID:34808346|PMID:34862408|PMID:34865644|PMID:34872044|PMID:34935411|PMID:34954454|PMID:34975533|PMID:34999423|PMID:35026164|PMID:35239206|PMID:35284542|PMID:35288587|PMID:35291351|PMID:35384599|PMID:35387801|PMID:35434999|PMID:35449878|PMID:35470680|PMID:35470684|PMID:35526016|PMID:35528128|PMID:35533453|PMID:35535697|PMID:35581137|PMID:35653365|PMID:35772917|PMID:35887646|PMID:35898701|PMID:36111332|PMID:36136372|PMID:36178741|PMID:36253810|PMID:36264615|PMID:36267857|PMID:36282542|PMID:36293084|PMID:36325899|PMID:36352512|PMID:36397776|PMID:36526864|PMID:36548481|PMID:36646731|PMID:36704457|PMID:36732629|PMID:36788754|PMID:36971006|PMID:37035729|PMID:37058558|PMID:37178278|PMID:37246508|PMID:37387251|PMID:37589201|PMID:37652022|PMID:37679847|PMID:37685926|PMID:37904629|PMID:38048861|PMID:38247853|PMID:38254962|PMID:38374194|PMID:38473809|PMID:38489124|PMID:38630155|PMID:38691546|PMID:38837338|PMID:38979608|PMID:39825153|PMID:4684700|PMID:4740717|PMID:8344919|PMID:8619549 8719462 Lmna lamin A/C gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732790 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:8621584|PMID:9106535|PMID:9500556|PMID:9536098 8719462 Lmna lamin A/C gene DOID:0050557 congenital muscular dystrophy ISO RGD:732790 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy PMID:10612827|PMID:10739764|PMID:10939567|PMID:11503164|PMID:12032588|PMID:12057196|PMID:12649505|PMID:14675861|PMID:14684700|PMID:15372542|PMID:15744034|PMID:15770669|PMID:16061563|PMID:16364671|PMID:16965317|PMID:18414213|PMID:18564364|PMID:18646565|PMID:19524666|PMID:20980393|PMID:21632249|PMID:22186027|PMID:22883396|PMID:23183350|PMID:24033266|PMID:24375749|PMID:24623722|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26900797|PMID:27532257|PMID:28492532|PMID:32666643 8719462 Lmna lamin A/C gene DOID:0050700 cardiomyopathy ISO RGD:732790 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:31525256|PMID:31744510|PMID:31836692|PMID:31857427|PMID:32004434|PMID:32041611|PMID:32160020|PMID:32376792|PMID:32456328|PMID:32746448|PMID:32793522|PMID:32880476|PMID:33258288|PMID:9536098 8719462 Lmna lamin A/C gene DOID:0050700 cardiomyopathy ISO RGD:732790 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:10580070|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10868844|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11503164|PMID:11561226|PMID:11792809|PMID:11799477|PMID:11897440|PMID:12015247|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12376891|PMID:12467734|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12702809|PMID:12716787|PMID:12768443|PMID:12788894|PMID:12920062|PMID:12927424|PMID:12927431|PMID:12938084|PMID:13129702|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14684700|PMID:14985400|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15539782|PMID:15744034|PMID:15770669|PMID:15843404|PMID:15919811|PMID:15965218|PMID:15998779|PMID:16061563|PMID:16174718|PMID:16181372|PMID:16278265|PMID:16364671|PMID:16407522|PMID:16415042|PMID:16478798|PMID:16584978|PMID:16585054|PMID:16809772|PMID:16825282|PMID:17107595|PMID:17250669|PMID:17250699|PMID:17325275|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17536044|PMID:17576681|PMID:17612587|PMID:17711925|PMID:17848409|PMID:17893350|PMID:18035086|PMID:18035816|PMID:18348272|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551513|PMID:18585512|PMID:18604166|PMID:18728124|PMID:18795223|PMID:18796515|PMID:18926329|PMID:19011997|PMID:19201734|PMID:19220582|PMID:19318026|PMID:19401371|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19524666|PMID:19589617|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19768759|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19882644|PMID:20041886|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:21179469|PMID:21315846|PMID:21520333|PMID:21535365|PMID:21818408|PMID:21831885|PMID:21846512|PMID:21883346|PMID:21970986|PMID:21980471|PMID:22071332|PMID:22177269|PMID:22199124|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22355414|PMID:22413764|PMID:22431096|PMID:22526018|PMID:22549407|PMID:22570643|PMID:22700598|PMID:2280636|PMID:22806367|PMID:22918509|PMID:23062543|PMID:23142632|PMID:23150259|PMID:23183350|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23701190|PMID:23757202|PMID:23783098|PMID:23785128|PMID:23804595|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24169522|PMID:24237251|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24846508|PMID:24861648|PMID:24943589|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25214167|PMID:2526018|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25469153|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25793944|PMID:25823658|PMID:25873806|PMID:25982065|PMID:25988045|PMID:26084686|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26404900|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26573435|PMID:26602028|PMID:26662654|PMID:26752647|PMID:26899768|PMID:26900797|PMID:27000522|PMID:27153395|PMID:27332903|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27707468|PMID:27760138|PMID:27813223|PMID:27841901|PMID:27841971|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28807990|PMID:28874324|PMID:28878402|PMID:29078011|PMID:29095976|PMID:29237675|PMID:29237690|PMID:29382405|PMID:29386531|PMID:29432544|PMID:29540472|PMID:29693488|PMID:29791652|PMID:29892087|PMID:29907918|PMID:29943882|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30019023|PMID:30137533 8719462 Lmna lamin A/C gene DOID:0050700 cardiomyopathy ISO RGD:732790 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30564623|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31836692|PMID:31857427|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32160020|PMID:32376792|PMID:32413188|PMID:32456328|PMID:32685188|PMID:32727917|PMID:32746448|PMID:32789579|PMID:32789750|PMID:32793522|PMID:32880476|PMID:33258288|PMID:33293369|PMID:33422685|PMID:33458588|PMID:33673806|PMID:34135346|PMID:34240052|PMID:34363016|PMID:34680903|PMID:34768595|PMID:34773379|PMID:34999423|PMID:35535697|PMID:9536098 8719462 Lmna lamin A/C gene DOID:0050700 cardiomyopathy ISO RGD:732790 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10580070|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10868844|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11503164|PMID:11561226|PMID:11792809|PMID:11799477|PMID:11897440|PMID:12015247|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12376891|PMID:12467734|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12702809|PMID:12716787|PMID:12768443|PMID:12788894|PMID:12920062|PMID:12927424|PMID:12927431|PMID:12938084|PMID:13129702|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14684700|PMID:14985400|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15539782|PMID:15744034|PMID:15770669|PMID:15843404|PMID:15919811|PMID:15965218|PMID:15998779|PMID:16061563|PMID:16174718|PMID:16181372|PMID:16278265|PMID:16364671|PMID:16407522|PMID:16415042|PMID:16478798|PMID:16584978|PMID:16585054|PMID:16809772|PMID:16825282|PMID:17107595|PMID:17250669|PMID:17250699|PMID:17325275|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17536044|PMID:17576681|PMID:17612587|PMID:17711925|PMID:17848409|PMID:17893350|PMID:18035086|PMID:18035816|PMID:18348272|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551513|PMID:18585512|PMID:18604166|PMID:18728124|PMID:18795223|PMID:18796515|PMID:18926329|PMID:19011997|PMID:19201734|PMID:19220582|PMID:19318026|PMID:19401371|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19524666|PMID:19589617|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19768759|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19882644|PMID:20041886|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:21179469|PMID:21315846|PMID:21465660|PMID:21520333|PMID:21535365|PMID:21818408|PMID:21831885|PMID:21846512|PMID:21883346|PMID:21970986|PMID:21980471|PMID:22071332|PMID:22177269|PMID:22199124|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22355414|PMID:22413764|PMID:22431096|PMID:22464770|PMID:22526018|PMID:22549407|PMID:22570643|PMID:22700598|PMID:2280636|PMID:22806367|PMID:22918509|PMID:23062543|PMID:23142632|PMID:23150259|PMID:23183350|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23701190|PMID:23757202|PMID:23783098|PMID:23785128|PMID:23804595|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24169522|PMID:24237251|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24846508|PMID:24861648|PMID:24943589|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25214167|PMID:2526018|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25469153|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25793944|PMID:25823658|PMID:25873806|PMID:25982065|PMID:25988045|PMID:26084686|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26404900|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26573435|PMID:26602028|PMID:26662654|PMID:26752647|PMID:26899768|PMID:26900797|PMID:27000522|PMID:27153395|PMID:27332903|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27707468|PMID:27760138|PMID:27813223|PMID:27841901|PMID:27841971|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28807990|PMID:28874324|PMID:28878402|PMID:29078011|PMID:29095976|PMID:29237675|PMID:29237690|PMID:29382405|PMID:29386531|PMID:29432544|PMID:29540472|PMID:29693488|PMID:29791652|PMID:29892087|PMID:29907918|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954 8719462 Lmna lamin A/C gene DOID:0050700 cardiomyopathy ISO RGD:732790 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:30012837|PMID:30019023|PMID:30137533|PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30564623|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31836692|PMID:31857427|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32160020|PMID:32376792|PMID:32413188|PMID:32456328|PMID:32685188|PMID:32727917|PMID:32746448|PMID:32789579|PMID:32789750|PMID:32793522|PMID:32818388|PMID:32880476|PMID:33258288|PMID:33293369|PMID:33407844|PMID:33422685|PMID:33458588|PMID:33502018|PMID:33673806|PMID:34135346|PMID:34240052|PMID:34363016|PMID:34680903|PMID:34768595|PMID:34773379|PMID:34999423|PMID:35535697|PMID:9536098 8719462 Lmna lamin A/C gene DOID:0050700 cardiomyopathy ISO RGD:732790 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:10080180|PMID:10580070|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10868844|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11503164|PMID:11561226|PMID:11792809|PMID:11799477|PMID:11897440|PMID:12015247|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12376891|PMID:12467734|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12702809|PMID:12768443|PMID:12788894|PMID:12920062|PMID:12927424|PMID:12927431|PMID:12938084|PMID:13129702|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14684700|PMID:14749366|PMID:14985400|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15539782|PMID:15678000|PMID:15744034|PMID:15770669|PMID:15843404|PMID:15919811|PMID:15965218|PMID:15998779|PMID:16061563|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16278265|PMID:16364671|PMID:16407522|PMID:16415042|PMID:16478798|PMID:16584978|PMID:16585054|PMID:16809772|PMID:16825282|PMID:17107595|PMID:17250669|PMID:17250699|PMID:17325275|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17536044|PMID:17576681|PMID:17612587|PMID:17711925|PMID:17848409|PMID:17893350|PMID:18035086|PMID:18035816|PMID:18348272|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551513|PMID:18585512|PMID:18604166|PMID:18728124|PMID:18795223|PMID:18796515|PMID:18926329|PMID:19011997|PMID:19084400|PMID:19201734|PMID:19220582|PMID:19318026|PMID:19401371|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19524666|PMID:19589617|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19768759|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19882644|PMID:20041886|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21179469|PMID:21315846|PMID:21520333|PMID:21535365|PMID:21818408|PMID:21831885|PMID:21846512|PMID:21883346|PMID:21970986|PMID:21980471|PMID:22071332|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22355414|PMID:22413764|PMID:22431096|PMID:22464770|PMID:22526018|PMID:22549407|PMID:22570643|PMID:22700598|PMID:22806367|PMID:22918509|PMID:23062543|PMID:23142632|PMID:23150259|PMID:23183350|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23701190|PMID:23757202|PMID:23783098|PMID:23785128|PMID:23804595|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24169522|PMID:24237251|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24846508|PMID:24861648|PMID:24943589|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25214167|PMID:2526018|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25469153|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25793944|PMID:25823658|PMID:25873806|PMID:25982065|PMID:25988045|PMID:26084686|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26392352|PMID:26404900|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26573435|PMID:26602028|PMID:26662654|PMID:26752647|PMID:26899768|PMID:26900797|PMID:27000522|PMID:27153395|PMID:27199538|PMID:27332903|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27633507|PMID:27707468|PMID:27723096|PMID:27760138|PMID:27813223|PMID:27841901|PMID:27841971|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28807990|PMID:28874324|PMID:28878402|PMID:29078011|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29237690 8719462 Lmna lamin A/C gene DOID:0050700 cardiomyopathy ISO RGD:732790 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:29382405|PMID:29386531|PMID:29432544|PMID:29540472|PMID:29693488|PMID:29791652|PMID:29892087|PMID:29907918|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30019023|PMID:30137533|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30919684|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32160020|PMID:32376792|PMID:32413188|PMID:32456328|PMID:32685188|PMID:32727917|PMID:32746448|PMID:32789579|PMID:32789750|PMID:32793522|PMID:32818388|PMID:32826072|PMID:32846814|PMID:32880476|PMID:33258288|PMID:33293369|PMID:33407844|PMID:33422685|PMID:33458588|PMID:33502018|PMID:33673806|PMID:33963534|PMID:34135346|PMID:34240052|PMID:34360639|PMID:34363016|PMID:34680903|PMID:34768595|PMID:34773379|PMID:34999423|PMID:35535697|PMID:9536098 8719462 Lmna lamin A/C gene DOID:0050700 cardiomyopathy ISO RGD:732790 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:10080180|PMID:10580070|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10868844|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11503164|PMID:11561226|PMID:11792809|PMID:11799477|PMID:11897440|PMID:12015247|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12376891|PMID:12467734|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12702809|PMID:12768443|PMID:12788894|PMID:12920062|PMID:12927424|PMID:12927431|PMID:12938084|PMID:13129702|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14684700|PMID:14749366|PMID:14985400|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15539782|PMID:15678000|PMID:15744034|PMID:15770669|PMID:15843404|PMID:15919811|PMID:15965218|PMID:15998779|PMID:16061563|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16278265|PMID:16364671|PMID:16407522|PMID:16415042|PMID:16478798|PMID:16584978|PMID:16585054|PMID:16809772|PMID:16825282|PMID:17107595|PMID:17250669|PMID:17250699|PMID:17325275|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17536044|PMID:17576681|PMID:17612587|PMID:17711925|PMID:17760566|PMID:17848409|PMID:17893350|PMID:18035086|PMID:18035816|PMID:18348272|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551513|PMID:18585512|PMID:18604166|PMID:18728124|PMID:18795223|PMID:18796515|PMID:18926329|PMID:19011997|PMID:19084400|PMID:19201734|PMID:19220582|PMID:19318026|PMID:19401371|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19524666|PMID:19589617|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19768759|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19882644|PMID:20041886|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21179469|PMID:21315846|PMID:21520333|PMID:21535365|PMID:21818408|PMID:21831885|PMID:21846512|PMID:21875900|PMID:21883346|PMID:21970986|PMID:21980471|PMID:22071332|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22355414|PMID:22413764|PMID:22431096|PMID:22464770|PMID:22526018|PMID:22549407|PMID:22570643|PMID:22700598|PMID:22806367|PMID:22918509|PMID:23062543|PMID:23142632|PMID:23150259|PMID:23183350|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23701190|PMID:23757202|PMID:23783098|PMID:23785128|PMID:23804595|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24169522|PMID:24237251|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24846508|PMID:24861648|PMID:24943589|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25214167|PMID:2526018|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25469153|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25793944|PMID:25823658|PMID:25873806|PMID:25982065|PMID:25988045|PMID:26084686|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26392352|PMID:26404900|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26573435|PMID:26602028|PMID:26662654|PMID:26752647|PMID:26899768|PMID:26900797|PMID:27000522|PMID:27153395|PMID:27199538|PMID:27332903|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27633507|PMID:27707468|PMID:27723096|PMID:27760138|PMID:27813223|PMID:27841901|PMID:27841971|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28807990|PMID:28874324|PMID:28878402|PMID:29078011|PMID:29095976|PMID:29149195 8719462 Lmna lamin A/C gene DOID:0050700 cardiomyopathy ISO RGD:732790 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:29237675|PMID:29237690|PMID:29382405|PMID:29386531|PMID:29432544|PMID:29540472|PMID:29693488|PMID:29791652|PMID:29892087|PMID:29907918|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30019023|PMID:30137533|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30919684|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32160020|PMID:32376792|PMID:32413188|PMID:32456328|PMID:32685188|PMID:32727917|PMID:32746448|PMID:32789579|PMID:32789750|PMID:32793522|PMID:32818388|PMID:32826072|PMID:32846814|PMID:32880476|PMID:33258288|PMID:33293369|PMID:33407844|PMID:33422685|PMID:33458588|PMID:33502018|PMID:33673806|PMID:33916827|PMID:33963534|PMID:34135346|PMID:34240052|PMID:34360639|PMID:34363016|PMID:34680903|PMID:34768595|PMID:34773379|PMID:34862408|PMID:34999423|PMID:35449878|PMID:35535697|PMID:9536098 8719462 Lmna lamin A/C gene DOID:0050700 cardiomyopathy ISO RGD:732790 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: PRKAG2 cardiac syndrome PMID:10080180|PMID:10580070|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11503164|PMID:11561226|PMID:11792809|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12376891|PMID:12467734|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12702809|PMID:12768443|PMID:12788894|PMID:12920062|PMID:12927424|PMID:12927431|PMID:12938084|PMID:13129702|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14684700|PMID:14749366|PMID:14985400|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15539782|PMID:15678000|PMID:15744034|PMID:15770669|PMID:15843404|PMID:15919811|PMID:15965218|PMID:15998779|PMID:16061563|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16278265|PMID:16364671|PMID:16407522|PMID:16415042|PMID:16478798|PMID:16584978|PMID:16585054|PMID:16809772|PMID:16825282|PMID:17107595|PMID:17250669|PMID:17250699|PMID:17325275|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17536044|PMID:17576681|PMID:17612587|PMID:17711925|PMID:17760566|PMID:17848409|PMID:17893350|PMID:18035086|PMID:18035816|PMID:18348272|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551513|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18728124|PMID:18795223|PMID:18796515|PMID:18926329|PMID:19011997|PMID:19084400|PMID:19201734|PMID:19220582|PMID:19318026|PMID:19401371|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19524666|PMID:19589617|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19768759|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19882644|PMID:20041886|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21179469|PMID:21315846|PMID:21520333|PMID:21535365|PMID:21632249|PMID:21818408|PMID:21831885|PMID:21846512|PMID:21875900|PMID:21883346|PMID:21970986|PMID:21980471|PMID:22071332|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22355414|PMID:22413764|PMID:22431096|PMID:22464770|PMID:22526018|PMID:22549407|PMID:22570643|PMID:22700598|PMID:22806367|PMID:22883396|PMID:22918509|PMID:23062543|PMID:23142632|PMID:23150259|PMID:23183350|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23701190|PMID:23757202|PMID:23783098|PMID:23785128|PMID:23804595|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24169522|PMID:24237251|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24846508|PMID:24861648|PMID:24943589|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25214167|PMID:2526018|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25469153|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25793944|PMID:25823658|PMID:25873806|PMID:25982065|PMID:25988045|PMID:26084686|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26392352|PMID:26404900|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26573435|PMID:26602028|PMID:26662654|PMID:26752647|PMID:26899768|PMID:26900797|PMID:27000522|PMID:27153395|PMID:27199538|PMID:27332903|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27633507|PMID:27707468|PMID:27723096|PMID:27760138|PMID:27813223|PMID:27841901|PMID:27841971|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28807990 8719462 Lmna lamin A/C gene DOID:0050700 cardiomyopathy ISO RGD:732790 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: PRKAG2 cardiac syndrome PMID:28874324|PMID:28878402|PMID:29078011|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29382405|PMID:29386531|PMID:29432544|PMID:29540472|PMID:29693488|PMID:29791652|PMID:29892087|PMID:29907918|PMID:29943882|PMID:29952368|PMID:29961767|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30019023|PMID:30137533|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30919684|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32160020|PMID:32376792|PMID:32413188|PMID:32456328|PMID:32685188|PMID:32727917|PMID:32746448|PMID:32789579|PMID:32789750|PMID:32793522|PMID:32818388|PMID:32826072|PMID:32846814|PMID:32880476|PMID:33258288|PMID:33293369|PMID:33407844|PMID:33422685|PMID:33458588|PMID:33502018|PMID:33673806|PMID:33916827|PMID:33963534|PMID:34135346|PMID:34240052|PMID:34360639|PMID:34363016|PMID:34495297|PMID:34680903|PMID:34720847|PMID:34768595|PMID:34773379|PMID:34862408|PMID:34975533|PMID:34999423|PMID:35026164|PMID:35449878|PMID:35526016|PMID:35535697|PMID:35772917|PMID:36397776|PMID:9536098 8719462 Lmna lamin A/C gene DOID:0050700 cardiomyopathy ISO RGD:732790 D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:28069705|PMID:28074886|PMID:28082330|PMID:28087566|PMID:28118183|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28341588|PMID:28349240|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28807990|PMID:28874324|PMID:28878402|PMID:29078011|PMID:29095976|PMID:29121657|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29247119|PMID:29253866|PMID:29255176|PMID:29382405|PMID:29386531|PMID:29432544|PMID:29540472|PMID:29557732|PMID:29693488|PMID:29773157|PMID:29791652|PMID:29892087|PMID:29907918|PMID:29943882|PMID:29952368|PMID:29961767|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30122538|PMID:30137533|PMID:30165155|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30199159|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30429050|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30595509|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30919684|PMID:31019283|PMID:31038196|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31402444|PMID:31428229|PMID:31447099|PMID:31453089|PMID:31476771|PMID:31514951|PMID:31521807|PMID:31525256|PMID:31539150|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32021920|PMID:32041611|PMID:32041989|PMID:32083564|PMID:32160020|PMID:32193531|PMID:32376792|PMID:32413188|PMID:32456328|PMID:32461654|PMID:32571898|PMID:32616434|PMID:32685188|PMID:32698523|PMID:32727917|PMID:32746448|PMID:32789579|PMID:32789750|PMID:32792077|PMID:32793522|PMID:32818388|PMID:32826072|PMID:32846814|PMID:32880476|PMID:33038109|PMID:33258288|PMID:33407844|PMID:33422685|PMID:33458588|PMID:33502018|PMID:33673806|PMID:33713793|PMID:33803191|PMID:33803652|PMID:33916827|PMID:33963534|PMID:34011823|PMID:34135346|PMID:34240052|PMID:34340952|PMID:34360639|PMID:34363016|PMID:34495297|PMID:34621001|PMID:34680903|PMID:34720847|PMID:34768595|PMID:34773379|PMID:34788595|PMID:34808346|PMID:34862408|PMID:34865644|PMID:34935411|PMID:34975533|PMID:34999423|PMID:35026164|PMID:35284542|PMID:35291351|PMID:35434999|PMID:35449878|PMID:35526016|PMID:35533453|PMID:35535697|PMID:35581137|PMID:35653365|PMID:35772917|PMID:35887646|PMID:36136372|PMID:36178741|PMID:36264615|PMID:36267857|PMID:36282542|PMID:36397776|PMID:36646731|PMID:37178278|PMID:37246508|PMID:37589201|PMID:37652022|PMID:37679847|PMID:8344919|PMID:9536098 8719462 Lmna lamin A/C gene DOID:0050700 cardiomyopathy ISO RGD:732790 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10080180|PMID:10580070|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10868844|PMID:10908904|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11503164|PMID:11561226|PMID:11792809|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12376891|PMID:12467734|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12702809|PMID:12716787|PMID:12768443|PMID:12788894|PMID:12920062|PMID:12927424|PMID:12927431|PMID:12938084|PMID:13129702|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14684700|PMID:14749366|PMID:14985400|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15372542|PMID:15473259|PMID:15475483|PMID:15539782|PMID:15678000|PMID:15744034|PMID:15770669|PMID:15843404|PMID:15919811|PMID:15965218|PMID:15998779|PMID:16046620|PMID:16061563|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16278265|PMID:16364671|PMID:16407522|PMID:16415042|PMID:16478798|PMID:16584978|PMID:16585054|PMID:16705075|PMID:16809772|PMID:16825282|PMID:17107595|PMID:17250669|PMID:17250699|PMID:17274801|PMID:17325275|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17536044|PMID:17576681|PMID:17612587|PMID:17711925|PMID:17760566|PMID:17848409|PMID:17893350|PMID:18035086|PMID:18035816|PMID:18348272|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551513|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18728124|PMID:18795223|PMID:18796515|PMID:18808171|PMID:18926329|PMID:19011997|PMID:19084400|PMID:19201734|PMID:19220582|PMID:19318026|PMID:19401371|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19524666|PMID:19589617|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19768759|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19882644|PMID:20041886|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21179469|PMID:21315846|PMID:21400569|PMID:21462202|PMID:21465660|PMID:21520333|PMID:21535365|PMID:21632249|PMID:21818408|PMID:21831885|PMID:21846512|PMID:21883346|PMID:21945321|PMID:21970986|PMID:21980471|PMID:22071332|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22337857|PMID:22355414|PMID:22413764|PMID:22431096|PMID:22464770|PMID:22526018|PMID:22549407|PMID:22570643|PMID:22700598|PMID:22761994|PMID:22806367|PMID:22883396|PMID:22918509|PMID:23062543|PMID:23142632|PMID:23150259|PMID:23183350|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23483212|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23701190|PMID:23702046|PMID:23757202|PMID:23775434|PMID:23783098|PMID:23785128|PMID:23804595|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24024053|PMID:24033266|PMID:24037902|PMID:24055113|PMID:24169522|PMID:24237251|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24846508|PMID:24861648|PMID:24943589|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25469153|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25793944|PMID:25823658|PMID:25873806|PMID:25982065|PMID:25988045|PMID:26084686|PMID:26183555|PMID:26220970|PMID:262236|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26392352|PMID:26404900|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26573435|PMID:26602028|PMID:26662654|PMID:26743238|PMID:26752647|PMID:26899768|PMID:26900797|PMID:27000522|PMID:27153395|PMID:27182706|PMID:27199538|PMID:27234031|PMID:2733290|PMID:27332903|PMID:27447704|PMID:27498076|PMID:27506821|PMID:27529282|PMID:2753225|PMID:27532257|PMID:27585670|PMID:27600705|PMID:27633507|PMID:27697855|PMID:27707468|PMID:27723096|PMID:27760138|PMID:27813223|PMID:27841901|PMID:27841971|PMID:27845687 8719462 Lmna lamin A/C gene DOID:0050700 cardiomyopathy ISO RGD:732790 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28082330|PMID:28087566|PMID:28118183|PMID:28199729|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28341588|PMID:28349240|PMID:28408391|PMID:28416588|PMID:28425981|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28807990|PMID:28874324|PMID:28878402|PMID:29078011|PMID:29095976|PMID:29121657|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29247119|PMID:29253866|PMID:29255176|PMID:29382405|PMID:29386531|PMID:29431110|PMID:29432544|PMID:29540472|PMID:29551499|PMID:29557732|PMID:29693488|PMID:29709087|PMID:29773157|PMID:29791652|PMID:29892087|PMID:29907918|PMID:29943882|PMID:29952368|PMID:29961767|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30107846|PMID:30122538|PMID:30137533|PMID:30165155|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30199159|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30429050|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30595509|PMID:30615648|PMID:30665423|PMID:30739589|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30919684|PMID:31019283|PMID:31038196|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31402444|PMID:31428229|PMID:31447099|PMID:31453089|PMID:31476771|PMID:31514951|PMID:31521807|PMID:31525256|PMID:31539150|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32021920|PMID:32041611|PMID:32041989|PMID:32083564|PMID:32160020|PMID:32193531|PMID:32245113|PMID:32376792|PMID:32413188|PMID:32456328|PMID:32461654|PMID:32616434|PMID:32657593|PMID:32685188|PMID:32698523|PMID:32727917|PMID:32740430|PMID:32746448|PMID:32789579|PMID:32789750|PMID:32792077|PMID:32793522|PMID:32818388|PMID:32826072|PMID:32846814|PMID:32880476|PMID:33029862|PMID:33038109|PMID:33258288|PMID:33407844|PMID:33422685|PMID:33458588|PMID:33500567|PMID:33502018|PMID:33673806|PMID:33713793|PMID:33803191|PMID:33803652|PMID:33887581|PMID:33893211|PMID:33916827|PMID:33963534|PMID:34011823|PMID:34135346|PMID:34240052|PMID:34340952|PMID:34360639|PMID:34363016|PMID:34461741|PMID:34495297|PMID:34621001|PMID:34680903|PMID:34720847|PMID:34768595|PMID:34773379|PMID:34788595|PMID:34808346|PMID:34862408|PMID:34865644|PMID:34935411|PMID:34975533|PMID:34999423|PMID:35026164|PMID:35284542|PMID:35288587|PMID:35291351|PMID:35434999|PMID:35449878|PMID:35470680|PMID:35526016|PMID:35533453|PMID:35535697|PMID:35581137|PMID:35653365|PMID:35772917|PMID:35887646|PMID:35898701|PMID:36136372|PMID:36178741|PMID:36264615|PMID:36267857|PMID:36282542|PMID:36293084|PMID:36325899|PMID:36397776|PMID:36646731|PMID:36704457|PMID:36732629|PMID:36788754|PMID:36971006|PMID:37178278|PMID:37246508|PMID:37387251|PMID:37589201|PMID:37652022|PMID:37679847|PMID:37685926|PMID:37904629|PMID:38247853|PMID:38254962|PMID:38374194|PMID:38473809|PMID:38489124|PMID:38630155|PMID:38691546|PMID:8344919|PMID:9536098 8719462 Lmna lamin A/C gene DOID:0050820 atrioventricular block ISO RGD:732790 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: AV block PMID:17377071|PMID:23183350|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27506821|PMID:28492532|PMID:28878402|PMID:29237675|PMID:29943882|PMID:30007954|PMID:30078822|PMID:30420677|PMID:32155092|PMID:33673806|PMID:34975533 8719462 Lmna lamin A/C gene DOID:0060480 left ventricular noncompaction ISO RGD:732790 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction PMID:19318026|PMID:21846512|PMID:22224630|PMID:22266370|PMID:22464770|PMID:23183350|PMID:23853504|PMID:24033266|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24846508|PMID:25163546|PMID:25741868|PMID:26404900|PMID:26743238|PMID:27532257|PMID:27585670|PMID:27723096|PMID:28492532|PMID:28663758|PMID:29149195|PMID:29237675|PMID:29709087|PMID:29961767|PMID:29970176|PMID:30165862|PMID:30528549|PMID:30739589|PMID:30847666|PMID:30871747|PMID:30919684|PMID:31303467|PMID:31383942|PMID:31476771|PMID:31744510|PMID:31829210|PMID:32041611|PMID:32193531|PMID:32413188|PMID:32826072|PMID:33887581|PMID:34495297|PMID:34720847|PMID:34808346|PMID:34862408|PMID:35026164|PMID:36397776 8719462 Lmna lamin A/C gene DOID:0060586 Noonan syndrome 8 ISO RGD:732790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Noonan syndrome 8 PMID:28492532 8719462 Lmna lamin A/C gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:732790 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:12376891|PMID:12467752|PMID:14597414|PMID:15372542|PMID:15843404|PMID:16584978|PMID:17107595|PMID:18478590|PMID:18808171|PMID:19524666|PMID:21400569|PMID:22761994|PMID:23861362|PMID:23977161|PMID:24503780|PMID:24623722|PMID:24794538|PMID:25210889|PMID:25448463|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28531892|PMID:30420677|PMID:31428229|PMID:32041611|PMID:32376792|PMID:32698523|PMID:32793522|PMID:32880476|PMID:34240052|PMID:37904629|PMID:38247853 8719462 Lmna lamin A/C gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:732790 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:12376891|PMID:12467752|PMID:14597414|PMID:15372542|PMID:15843404|PMID:16584978|PMID:17107595|PMID:18478590|PMID:18808171|PMID:19524666|PMID:21400569|PMID:22761994|PMID:23861362|PMID:23977161|PMID:24503780|PMID:24623722|PMID:24794538|PMID:25210889|PMID:25448463|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28531892|PMID:30420677|PMID:31428229|PMID:32041611|PMID:32376792|PMID:32698523|PMID:32793522|PMID:32880476|PMID:34240052 8719462 Lmna lamin A/C gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:732790 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY PMID:12376891|PMID:12467752|PMID:14597414|PMID:15372542|PMID:15843404|PMID:16584978|PMID:17107595|PMID:18478590|PMID:18808171|PMID:19524666|PMID:21400569|PMID:22761994|PMID:23861362|PMID:23977161|PMID:24503780|PMID:24623722|PMID:24794538|PMID:25210889|PMID:25448463|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28531892|PMID:30420677|PMID:31428229|PMID:32041611|PMID:32376792|PMID:32698523|PMID:32793522|PMID:32880476|PMID:34240052|PMID:37904629|PMID:38247853 8719462 Lmna lamin A/C gene DOID:0060762 restrictive dermopathy ISO RGD:732790 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Fetal hypokinesia sequence due to restrictive dermopathy | ClinVar Annotator: match by term: Lethal tight skin contracture syndrome PMID:10080180|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10810087|PMID:10868844|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11503164|PMID:11792809|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14597414|PMID:14615128|PMID:14684700|PMID:14749366|PMID:15140538|PMID:15475483|PMID:15770669|PMID:15998779|PMID:16174718|PMID:16181372|PMID:16364671|PMID:16415042|PMID:16440304|PMID:17274801|PMID:17334235|PMID:17377071|PMID:17576681|PMID:17893350|PMID:18396274|PMID:18414213|PMID:18549403|PMID:18728124|PMID:18795223|PMID:19011997|PMID:19201734|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19589617|PMID:19638735|PMID:19680556|PMID:19859838|PMID:2007407|PMID:20130076|PMID:20625965|PMID:20848652|PMID:20980393|PMID:21465660|PMID:21846512|PMID:22326558|PMID:22700598|PMID:22918509|PMID:23183350|PMID:23313286|PMID:23328570|PMID:2338570|PMID:23427149|PMID:23702046|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24033266|PMID:24055113|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:25163546|PMID:25214167|PMID:25351510|PMID:25637381|PMID:25741868|PMID:26183555|PMID:26220970|PMID:262236|PMID:26332594|PMID:26392352|PMID:26404900|PMID:26467025|PMID:26602028|PMID:26662654|PMID:26752647|PMID:26900797|PMID:2733290|PMID:27332903|PMID:27498076|PMID:27506821|PMID:27529282|PMID:2753225|PMID:27532257|PMID:27813223|PMID:27854218|PMID:27884249|PMID:27896052|PMID:27919367|PMID:28074886|PMID:28255936|PMID:28492532|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28785654|PMID:28790152|PMID:29040816|PMID:29237675|PMID:29253866|PMID:29255176|PMID:29557732|PMID:29693488|PMID:29791652|PMID:29952368|PMID:29961767|PMID:29970176|PMID:30107846|PMID:30165155|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30420677|PMID:30564623|PMID:30847666|PMID:30919684|PMID:31194872|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31744510|PMID:31836692|PMID:31857427|PMID:31980526|PMID:32041611|PMID:32193531|PMID:32376792|PMID:32616434|PMID:32685188|PMID:32727917|PMID:32818388|PMID:32826072|PMID:32880476|PMID:33407844|PMID:33500567|PMID:33502018|PMID:33713793|PMID:33803191|PMID:33803652|PMID:33893211|PMID:34340952|PMID:34495297|PMID:34720847|PMID:34862408|PMID:34865644|PMID:34935411|PMID:34999423|PMID:35026164|PMID:35291351|PMID:35449878|PMID:35533453|PMID:35772917|PMID:36397776|PMID:37652022|PMID:37679847|PMID:9536098 8719462 Lmna lamin A/C gene DOID:0060843 hereditary neuropathy with liability to pressure palsies ISO RGD:732790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary liability to pressure palsies PMID:16288874 8719462 Lmna lamin A/C gene DOID:0070202 familial partial lipodystrophy type 2 ISO RGD:732790 D RGD:7240710 20180912 OMIM 8719462 Lmna lamin A/C gene DOID:0070202 familial partial lipodystrophy type 2 ISO RGD:732790 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Familial partial lipodystrophy, Dunnigan type | ClinVar Annotator: match by term: Partial lipodystrophy, Dunnigan PMID:10080180|PMID:10580070|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11015599|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11792809|PMID:11792811|PMID:11799477|PMID:11897440|PMID:12015247|PMID:12032588|PMID:12075506|PMID:12196663|PMID:12376891|PMID:12467734|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12702809|PMID:12716787|PMID:12729796|PMID:12784312|PMID:12788894|PMID:12920062|PMID:12927424|PMID:12927431|PMID:12938084|PMID:13129702|PMID:14510863|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14684700|PMID:14749366|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15219508|PMID:15298354|PMID:15372542|PMID:15473259|PMID:15475483|PMID:15531479|PMID:15678000|PMID:15744034|PMID:15770669|PMID:15843404|PMID:15965218|PMID:15998779|PMID:16046620|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16440304|PMID:16459536|PMID:16584978|PMID:16585054|PMID:16636128|PMID:16671095|PMID:16705075|PMID:16715312|PMID:16809772|PMID:17107595|PMID:17136397|PMID:17250669|PMID:17250699|PMID:17274801|PMID:17325275|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17524034|PMID:17536044|PMID:17556535|PMID:17576681|PMID:17612587|PMID:17711925|PMID:17760566|PMID:17848409|PMID:17893350|PMID:17987279|PMID:18035086|PMID:18041775|PMID:18348272|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551513|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18728124|PMID:18795223|PMID:18808171|PMID:18926329|PMID:19011997|PMID:19084400|PMID:19169477|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19446900|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19875478|PMID:19933576|PMID:20041886|PMID:2007407|PMID:20074070|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20376791|PMID:20497714|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21346069|PMID:21400569|PMID:21465660|PMID:21479595|PMID:21520333|PMID:21632249|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21883346|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22068161|PMID:22071332|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22355414|PMID:22431096|PMID:22464770|PMID:22526018|PMID:22570643|PMID:2270059|PMID:22700598|PMID:22761994|PMID:22883396|PMID:22918509|PMID:23062543|PMID:23142632|PMID:23183350|PMID:23243001|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23702046|PMID:23783098|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24080738|PMID:24108105|PMID:24375749|PMID:24459210|PMID:24503780|PMID:24623722|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24846508|PMID:24861648|PMID:24915601|PMID:24943589|PMID:24990833|PMID:25025039|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25819867|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25982065|PMID:26027246|PMID:26084686|PMID:26098624|PMID:26165385|PMID:26183555|PMID:26220970|PMID:262236|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26392352|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26498160|PMID:26573435|PMID:26602028|PMID:26662654|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26743238|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26900797|PMID:26976018 8719462 Lmna lamin A/C gene DOID:0070202 familial partial lipodystrophy type 2 ISO RGD:732790 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Familial partial lipodystrophy, Dunnigan type | ClinVar Annotator: match by term: Partial lipodystrophy, Dunnigan PMID:27000522|PMID:27100822|PMID:27153395|PMID:27182706|PMID:27220833|PMID:2733290|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27498076|PMID:27504462|PMID:27506821|PMID:27529282|PMID:2753225|PMID:27532257|PMID:27585670|PMID:27600705|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27845687|PMID:27854218|PMID:27884249|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28074886|PMID:28082330|PMID:28087566|PMID:28255936|PMID:28341588|PMID:28349240|PMID:28416588|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28620495|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28874324|PMID:28878402|PMID:29040816|PMID:29078011|PMID:29095976|PMID:29121657|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29253866|PMID:29255176|PMID:29431110|PMID:29438482|PMID:29540472|PMID:29551499|PMID:29557732|PMID:29620724|PMID:29693488|PMID:29709087|PMID:29773157|PMID:29791652|PMID:29892087|PMID:29895224|PMID:29943882|PMID:29952368|PMID:29961767|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30055862|PMID:30107846|PMID:30122538|PMID:30137533|PMID:30165155|PMID:30165862|PMID:30177912|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30429050|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30595509|PMID:30615648|PMID:30665423|PMID:30739589|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30919684|PMID:31019283|PMID:31194872|PMID:31293201|PMID:31303467|PMID:31383942|PMID:31428229|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31521807|PMID:31525256|PMID:31744510|PMID:31794942|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31931689|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32193531|PMID:32376792|PMID:32413188|PMID:32455078|PMID:32456328|PMID:32461654|PMID:32475984|PMID:32508047|PMID:32517491|PMID:32571898|PMID:32616434|PMID:32685188|PMID:32698523|PMID:32727917|PMID:32746448|PMID:32792077|PMID:32793522|PMID:32818388|PMID:32826072|PMID:32846814|PMID:32880476|PMID:32913962|PMID:32939435|PMID:33038109|PMID:33258288|PMID:33304817|PMID:33407844|PMID:33422685|PMID:33458588|PMID:33500567|PMID:33502018|PMID:33673806|PMID:33713793|PMID:33803191|PMID:33803652|PMID:33887581|PMID:33893211|PMID:33916827|PMID:33963534|PMID:34011823|PMID:34135346|PMID:34240052|PMID:34292171|PMID:34340952|PMID:34363016|PMID:34495297|PMID:34680903|PMID:34720847|PMID:34768595|PMID:34788595|PMID:34808346|PMID:34862408|PMID:34865644|PMID:34935411|PMID:34975533|PMID:34999423|PMID:35026164|PMID:35291351|PMID:35384599|PMID:35449878|PMID:35526016|PMID:35528128|PMID:35533453|PMID:35535697|PMID:35772917|PMID:35898701|PMID:36264615|PMID:36267857|PMID:36293084|PMID:36397776|PMID:36646731|PMID:36704457|PMID:36788754|PMID:36971006|PMID:37246508|PMID:37589201|PMID:37652022|PMID:37679847|PMID:37685926|PMID:37904629|PMID:38247853|PMID:38254962|PMID:38473809|PMID:38489124|PMID:38630155|PMID:38691546|PMID:39825153|PMID:4740717|PMID:8619549|PMID:9106535|PMID:9500556|PMID:9536098 8719462 Lmna lamin A/C gene DOID:0070246 X-linked Emery-Dreifuss muscular dystrophy 1 ISO RGD:732790 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, tardive Emery-Dreifuss type, with contractures | ClinVar Annotator: match by term: Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures PMID:11102973|PMID:11503164|PMID:12376891|PMID:12467752|PMID:12628721|PMID:12629077|PMID:12920062|PMID:12927431|PMID:14597414|PMID:14615128|PMID:15140538|PMID:15372542|PMID:15475483|PMID:15843404|PMID:15998779|PMID:16174718|PMID:16584978|PMID:17107595|PMID:17334235|PMID:17377071|PMID:17576681|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18795223|PMID:18808171|PMID:19318026|PMID:19424285|PMID:19427440|PMID:19524666|PMID:19638735|PMID:19680556|PMID:20848652|PMID:21400569|PMID:22326558|PMID:22761994|PMID:23702046|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24033266|PMID:24055113|PMID:24503780|PMID:24623722|PMID:24721642|PMID:24794538|PMID:25210889|PMID:25214167|PMID:25351510|PMID:25448463|PMID:25637381|PMID:25741868|PMID:262236|PMID:26392352|PMID:26467025|PMID:26602028|PMID:2733290|PMID:27332903|PMID:27506821|PMID:27532257|PMID:27813223|PMID:27884249|PMID:27896052|PMID:28492532|PMID:28531892|PMID:28663758|PMID:28679633|PMID:28785654|PMID:28790152|PMID:29237675|PMID:29255176|PMID:29693488|PMID:29952368|PMID:30326651|PMID:30402260|PMID:30420677|PMID:30847666|PMID:31383942|PMID:31428229|PMID:31744510|PMID:31980526|PMID:32041611|PMID:32376792|PMID:32698523|PMID:32727917|PMID:32793522|PMID:32818388|PMID:32880476|PMID:33407844|PMID:34240052|PMID:34999423|PMID:35533453|PMID:9536098 8719462 Lmna lamin A/C gene DOID:0070246 X-linked Emery-Dreifuss muscular dystrophy 1 ISO RGD:732790 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures PMID:11102973|PMID:11503164|PMID:12376891|PMID:12467752|PMID:12628721|PMID:12629077|PMID:12920062|PMID:12927431|PMID:14597414|PMID:14615128|PMID:15140538|PMID:15372542|PMID:15475483|PMID:15843404|PMID:15998779|PMID:16174718|PMID:16584978|PMID:17107595|PMID:17334235|PMID:17377071|PMID:17576681|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18795223|PMID:18808171|PMID:19318026|PMID:19424285|PMID:19427440|PMID:19524666|PMID:19638735|PMID:19680556|PMID:20848652|PMID:21400569|PMID:21465660|PMID:22326558|PMID:22761994|PMID:23702046|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24033266|PMID:24055113|PMID:24503780|PMID:24623722|PMID:24721642|PMID:24794538|PMID:25210889|PMID:25214167|PMID:25351510|PMID:25448463|PMID:25637381|PMID:25741868|PMID:262236|PMID:26392352|PMID:26467025|PMID:26602028|PMID:2733290|PMID:27332903|PMID:27506821|PMID:27532257|PMID:27813223|PMID:27884249|PMID:27896052|PMID:28492532|PMID:28531892|PMID:28663758|PMID:28679633|PMID:28785654|PMID:28790152|PMID:29237675|PMID:29255176|PMID:29693488|PMID:29952368|PMID:30326651|PMID:30402260|PMID:30420677|PMID:30847666|PMID:31383942|PMID:31428229|PMID:31744510|PMID:31980526|PMID:32041611|PMID:32376792|PMID:32698523|PMID:32727917|PMID:32793522|PMID:32818388|PMID:32880476|PMID:33407844|PMID:33893211|PMID:34240052|PMID:34999423|PMID:35533453|PMID:37904629|PMID:38247853|PMID:9536098 8719462 Lmna lamin A/C gene DOID:0070247 autosomal dominant Emery-Dreifuss muscular dystrophy 2 ISO RGD:732790 D RGD:7240710 20180912 OMIM 8719462 Lmna lamin A/C gene DOID:0070247 autosomal dominant Emery-Dreifuss muscular dystrophy 2 ISO RGD:732790 D RGD:8554872 20240116 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1B | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, PROXIMAL, TYPE 1B | ClinVar Annotator: match by term: Muscular dystrophy, proximal, type 1B | ClinVar Annotator: match by term: SCAPULOILIOPERONEAL ATROPHY WITH CARDIOPATHY PMID:10080180|PMID:10580070|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11897440|PMID:12032588|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12784312|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14615128|PMID:14659775|PMID:14684700|PMID:14749366|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15744034|PMID:15770669|PMID:15998779|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16364671|PMID:16386954|PMID:16415042|PMID:16459536|PMID:16585054|PMID:16671095|PMID:16715312|PMID:17136397|PMID:17377071|PMID:17524034|PMID:17576681|PMID:17711925|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18035086|PMID:18182166|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18606848|PMID:18646565|PMID:18728124|PMID:18795223|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19859838|PMID:19875404|PMID:19882644|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20530761|PMID:20625965|PMID:20848652|PMID:20980393|PMID:21173262|PMID:21315846|PMID:21479595|PMID:21520333|PMID:21632249|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22431096|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22700598|PMID:22806367|PMID:22883396|PMID:22918509|PMID:23142632|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23582089|PMID:23631840|PMID:23783098|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24237251|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24846508|PMID:24990833|PMID:25025039|PMID:25210889|PMID:25214167|PMID:2526018|PMID:25343322|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25873806|PMID:25885670|PMID:25948554|PMID:25987458|PMID:26027246|PMID:26084686|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26443318|PMID:26467025|PMID:26498160|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27100822|PMID:27153395|PMID:27220833|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27650965|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28074886|PMID:28087566|PMID:28255936|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28878402|PMID:29057633|PMID:29149195|PMID:29237675|PMID:29438482|PMID:29620724|PMID:29693488|PMID:29791652|PMID:29892087|PMID:29895224|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30055862|PMID:30137533|PMID:30165862|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30420677|PMID:30528549|PMID:30564623|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221 8719462 Lmna lamin A/C gene DOID:0070247 autosomal dominant Emery-Dreifuss muscular dystrophy 2 ISO RGD:732790 D RGD:8554872 20240116 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1B | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, PROXIMAL, TYPE 1B | ClinVar Annotator: match by term: Muscular dystrophy, proximal, type 1B | ClinVar Annotator: match by term: SCAPULOILIOPERONEAL ATROPHY WITH CARDIOPATHY PMID:32009526|PMID:32012908|PMID:32041611|PMID:32376792|PMID:32455078|PMID:32475984|PMID:32727917|PMID:32818388|PMID:32880476|PMID:33407844|PMID:33502018|PMID:33963534|PMID:34495297|PMID:34768595|PMID:34999423|PMID:35026164|PMID:35449878|PMID:8619549|PMID:9106535|PMID:9500556|PMID:9536098 8719462 Lmna lamin A/C gene DOID:0070247 autosomal dominant Emery-Dreifuss muscular dystrophy 2 ISO RGD:732790 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 2, autosomal dominant | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1B | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, PROXIMAL, TYPE 1B | ClinVar Annotator: match by term: Muscular dystrophy, proximal, type 1B PMID:10080180|PMID:10580070|PMID:10587585|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11138304|PMID:11180602|PMID:11231979|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11799477|PMID:11897440|PMID:11901143|PMID:12015247|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12376891|PMID:12467734|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12702809|PMID:12716787|PMID:12748643|PMID:12784312|PMID:12788894|PMID:12920062|PMID:12927424|PMID:12927431|PMID:12938084|PMID:13129702|PMID:14510863|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14684700|PMID:14749366|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15148145|PMID:15298354|PMID:15372542|PMID:15473259|PMID:15475483|PMID:15531479|PMID:15668447|PMID:15678000|PMID:15744034|PMID:15770669|PMID:15843404|PMID:15965218|PMID:15998779|PMID:16046620|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16440304|PMID:16459536|PMID:16584978|PMID:16585054|PMID:16671095|PMID:16705075|PMID:16715312|PMID:16772334|PMID:16809772|PMID:16990647|PMID:17107595|PMID:17136397|PMID:17250669|PMID:17250699|PMID:17274801|PMID:17325275|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17612587|PMID:17711925|PMID:17760566|PMID:17848409|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18035086|PMID:18348272|PMID:18396274|PMID:18414213|PMID:18478590|PMID:1849984|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18728124|PMID:18795223|PMID:18808171|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19084400|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19446900|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19875478|PMID:19882644|PMID:19933576|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20376791|PMID:20497714|PMID:20498703|PMID:20530761|PMID:20576434|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21173262|PMID:21315846|PMID:21400569|PMID:21465660|PMID:21479595|PMID:21483645|PMID:21520333|PMID:21535365|PMID:21632249|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21922471|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22068161|PMID:22071332|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22355414|PMID:22431096|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22700598|PMID:22761994|PMID:22806367|PMID:22883396|PMID:22918509|PMID:23029315|PMID:23062543|PMID:23077635|PMID:23142632|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23702046|PMID:23783098|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24237251|PMID:24349489|PMID:24375749|PMID:24459210|PMID:24503780|PMID:24508248|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24846508|PMID:24861648|PMID:24915601|PMID:24943589|PMID:24990833|PMID:25025039|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25326637|PMID:25343322|PMID:25351510|PMID:25371241|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25948554|PMID:25982065|PMID:25987458|PMID:26027246|PMID:26084686|PMID:26098624|PMID:26165385|PMID:26183555|PMID:26220970 8719462 Lmna lamin A/C gene DOID:0070247 autosomal dominant Emery-Dreifuss muscular dystrophy 2 ISO RGD:732790 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 2, autosomal dominant | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1B | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, PROXIMAL, TYPE 1B | ClinVar Annotator: match by term: Muscular dystrophy, proximal, type 1B PMID:262236|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26392352|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26498160|PMID:26567375|PMID:26573435|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26743238|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26900797|PMID:26976018|PMID:27000522|PMID:27100822|PMID:27153395|PMID:27182706|PMID:27199538|PMID:27220833|PMID:2733290|PMID:27332903|PMID:27363342|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27498076|PMID:27504462|PMID:27506821|PMID:27529282|PMID:2753225|PMID:27532257|PMID:27585670|PMID:27600705|PMID:27650965|PMID:27707468|PMID:27717888|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27845687|PMID:27854218|PMID:27884249|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28074886|PMID:28082330|PMID:28087566|PMID:28255936|PMID:28341588|PMID:28349240|PMID:28416588|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28874324|PMID:28878402|PMID:29040816|PMID:29057633|PMID:29095976|PMID:29121657|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29253866|PMID:29255176|PMID:29431110|PMID:29438482|PMID:29540472|PMID:29551499|PMID:29557732|PMID:29620724|PMID:29676528|PMID:29693488|PMID:29709087|PMID:29753763|PMID:29758562|PMID:29773157|PMID:29791652|PMID:29892087|PMID:29893365|PMID:29895224|PMID:29943882|PMID:29952368|PMID:29961767|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30055862|PMID:30107846|PMID:30122538|PMID:30137533|PMID:30165155|PMID:30165862|PMID:30177912|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30429050|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30595509|PMID:30615648|PMID:30665423|PMID:30739589|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30919684|PMID:31019283|PMID:31069529|PMID:31127727|PMID:31194872|PMID:31303467|PMID:31383942|PMID:31410651|PMID:31428229|PMID:31434876|PMID:31447099|PMID:31476771|PMID:31498906|PMID:31514951|PMID:31521807|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31931689|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32193531|PMID:32376792|PMID:32413188|PMID:32455078|PMID:32456328|PMID:32461654|PMID:32475984|PMID:32508047|PMID:32571898|PMID:32616434|PMID:32685188|PMID:32698523|PMID:32727917|PMID:32746448|PMID:32792077|PMID:32793522|PMID:32818388|PMID:32826072|PMID:32880476|PMID:33038109|PMID:33070394|PMID:33170376|PMID:33258288|PMID:33304817|PMID:33407844|PMID:33422685|PMID:33458588|PMID:33500567|PMID:33502018|PMID:33673806|PMID:33713793|PMID:33803191|PMID:33803652|PMID:33824984|PMID:33887581|PMID:33893211|PMID:33916827|PMID:33963534|PMID:34008892|PMID:34011823|PMID:34135346|PMID:34240052|PMID:34340952|PMID:34363016|PMID:34495297|PMID:34680903|PMID:34720847|PMID:34768595|PMID:34788595|PMID:34808346|PMID:34862408|PMID:34865644|PMID:34935411|PMID:34954454|PMID:34975533|PMID:34999423|PMID:35026164|PMID:35239206|PMID:35291351|PMID:35387801|PMID:35434999|PMID:35449878|PMID:35526016|PMID:35533453|PMID:35535697|PMID:35772917|PMID:35898701|PMID:36253810|PMID:36264615|PMID:36267857|PMID:36293084|PMID:36352512|PMID:36397776|PMID:36646731|PMID:36704457|PMID:36788754|PMID:36971006|PMID:37246508|PMID:37589201|PMID:37652022|PMID:37679847|PMID:37685926|PMID:37904629|PMID:38048861|PMID:38247853|PMID:38254962|PMID:38374194|PMID:38473809|PMID:38489124|PMID:38630155|PMID:38691546|PMID:4740717|PMID:8619549|PMID:9106535|PMID:9500556|PMID:9536098 8719462 Lmna lamin A/C gene DOID:0070248 autosomal recessive Emery-Dreifuss muscular dystrophy 3 ISO RGD:732790 D RGD:7240710 20180523 OMIM 8719462 Lmna lamin A/C gene DOID:0070248 autosomal recessive Emery-Dreifuss muscular dystrophy 3 ISO RGD:732790 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 3, autosomal recessive PMID:10580070|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11792809|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12075506|PMID:12376891|PMID:12467734|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12702809|PMID:12716787|PMID:12788894|PMID:12920062|PMID:12927424|PMID:12927431|PMID:12938084|PMID:13129702|PMID:14510863|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14684700|PMID:14749366|PMID:15053843|PMID:15060110|PMID:15298354|PMID:15372542|PMID:15473259|PMID:15475483|PMID:15531479|PMID:15678000|PMID:15744034|PMID:15770669|PMID:15843404|PMID:15965218|PMID:16046620|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16459536|PMID:16584978|PMID:16585054|PMID:16671095|PMID:16705075|PMID:16715312|PMID:16809772|PMID:17107595|PMID:17136397|PMID:17250669|PMID:17250699|PMID:17274801|PMID:17325275|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17612587|PMID:17711925|PMID:17760566|PMID:17848409|PMID:17893350|PMID:17987279|PMID:18035086|PMID:18348272|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551513|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18728124|PMID:18795223|PMID:18808171|PMID:18926329|PMID:19011997|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19446900|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19764019|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19875478|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21400569|PMID:21479595|PMID:21520333|PMID:21632249|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22068161|PMID:22071332|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22355414|PMID:22431096|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22700598|PMID:22761994|PMID:22883396|PMID:22918509|PMID:23062543|PMID:23142632|PMID:23183350|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23427149|PMID:23582089|PMID:23702046|PMID:23783098|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24058181|PMID:24108105|PMID:24375749|PMID:24459210|PMID:24503780|PMID:24623722|PMID:24794538|PMID:24846508|PMID:24861648|PMID:24915601|PMID:24943589|PMID:24990833|PMID:25025039|PMID:25163546|PMID:25210889|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25371241|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670|PMID:26027246|PMID:26084686|PMID:262236|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26498160|PMID:26573435|PMID:26662654|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26743238|PMID:26756202|PMID:26899768|PMID:26900797|PMID:26976018|PMID:27000522|PMID:27153395|PMID:27182706|PMID:27220833|PMID:2733290|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27498076|PMID:27504462|PMID:27506821|PMID:27529282|PMID:27532257|PMID:27585670|PMID:27600705|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27845687|PMID:27884249|PMID:27896284|PMID:27919367|PMID:28074886|PMID:28082330|PMID:28087566|PMID:28255936|PMID:28341588|PMID:28349240|PMID:28416588|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28790152|PMID:28807990|PMID:28874324|PMID:28878402|PMID:29095976 8719462 Lmna lamin A/C gene DOID:0070248 autosomal recessive Emery-Dreifuss muscular dystrophy 3 ISO RGD:732790 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 3, autosomal recessive PMID:29121657|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29253866|PMID:29255176|PMID:29431110|PMID:29438482|PMID:29540472|PMID:29551499|PMID:29557732|PMID:29620724|PMID:29693488|PMID:29709087|PMID:29773157|PMID:29791652|PMID:29892087|PMID:29895224|PMID:29943882|PMID:29952368|PMID:29961767|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30055862|PMID:30122538|PMID:30137533|PMID:30165155|PMID:30165862|PMID:30177912|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30429050|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30595509|PMID:30615648|PMID:30665423|PMID:30739589|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30919684|PMID:31019283|PMID:31194872|PMID:31303467|PMID:31383942|PMID:31428229|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31521807|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31931689|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32193531|PMID:32376792|PMID:32413188|PMID:32455078|PMID:32456328|PMID:32461654|PMID:32508047|PMID:32616434|PMID:32685188|PMID:32698523|PMID:32727917|PMID:32746448|PMID:32792077|PMID:32793522|PMID:32818388|PMID:32826072|PMID:32880476|PMID:33038109|PMID:33258288|PMID:33304817|PMID:33407844|PMID:33422685|PMID:33458588|PMID:33502018|PMID:33673806|PMID:33713793|PMID:33803191|PMID:33803652|PMID:33887581|PMID:33893211|PMID:33916827|PMID:33963534|PMID:34011823|PMID:34135346|PMID:34240052|PMID:34340952|PMID:34363016|PMID:34495297|PMID:34680903|PMID:34720847|PMID:34768595|PMID:34788595|PMID:34808346|PMID:34862408|PMID:34865644|PMID:34975533|PMID:34999423|PMID:35026164|PMID:35291351|PMID:35449878|PMID:35526016|PMID:35535697|PMID:35772917|PMID:35898701|PMID:36264615|PMID:36267857|PMID:36293084|PMID:36397776|PMID:36646731|PMID:36704457|PMID:36788754|PMID:36971006|PMID:37246508|PMID:37589201|PMID:37652022|PMID:37679847|PMID:37685926|PMID:37904629|PMID:38247853|PMID:38254962|PMID:38473809|PMID:38489124|PMID:38630155|PMID:38691546|PMID:4684700|PMID:4740717|PMID:8619549|PMID:9106535|PMID:9500556|PMID:9536098 8719462 Lmna lamin A/C gene DOID:0070370 restrictive dermopathy 2 ISO RGD:732790 D RGD:7240710 20230505 OMIM 8719462 Lmna lamin A/C gene DOID:0070370 restrictive dermopathy 2 ISO RGD:732790 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: RESTRICTIVE DERMOPATHY 2, LETHAL | ClinVar Annotator: match by term: Restrictive dermopathy 2 PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10814726|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11180602|PMID:11231979|PMID:11344241|PMID:11503164|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12075506|PMID:12376891|PMID:12467734|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12716787|PMID:12768443|PMID:12788894|PMID:12920062|PMID:12927431|PMID:12938084|PMID:13129702|PMID:14510863|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14684700|PMID:14749366|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15184648|PMID:15298354|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15473259|PMID:15475483|PMID:15531479|PMID:15678000|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15843404|PMID:15965218|PMID:15982412|PMID:16046620|PMID:16126733|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16459536|PMID:16584978|PMID:16585054|PMID:16671095|PMID:16705075|PMID:16715312|PMID:16738054|PMID:16809772|PMID:17107595|PMID:17136397|PMID:17250669|PMID:17250699|PMID:17274801|PMID:17325275|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17612587|PMID:17711925|PMID:17760566|PMID:17848409|PMID:17987279|PMID:18035086|PMID:18348272|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551513|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18646565|PMID:18795223|PMID:18808171|PMID:18926329|PMID:19172989|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19446900|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19764019|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19875478|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20307303|PMID:20497714|PMID:20580717|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21251803|PMID:21400569|PMID:21479595|PMID:21520333|PMID:21632249|PMID:21738662|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22068161|PMID:22071332|PMID:22148005|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22355414|PMID:22431096|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22611635|PMID:22685055|PMID:22700598|PMID:22761994|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23062543|PMID:23141186|PMID:23142632|PMID:23183350|PMID:23299917|PMID:23328570|PMID:23349452|PMID:23427149|PMID:23582089|PMID:23702046|PMID:23783098|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24058181|PMID:24108105|PMID:24305605|PMID:24375749|PMID:24459210|PMID:24503780|PMID:24623722|PMID:24794538|PMID:24846508|PMID:24861648|PMID:24915601|PMID:24943589|PMID:24990833|PMID:25025039|PMID:25163546|PMID:25210889|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25371241|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25617006|PMID:25637381|PMID:25649378|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25946677|PMID:26027246|PMID:26084686|PMID:262236|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26498160|PMID:26573435|PMID:26662654|PMID:26670336|PMID:26724531|PMID:26733286|PMID:26743238|PMID:26756202|PMID:26899768|PMID:26900797|PMID:26976018|PMID:27000522|PMID:27153395|PMID:27182706|PMID:27220833|PMID:2733290|PMID:27332903|PMID:27421120|PMID:27447704|PMID:27498076|PMID:27504462|PMID:27506821|PMID:27529282|PMID:27532257|PMID:27585670|PMID:27600705|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27845687|PMID:27884249|PMID:27896284|PMID:27919367|PMID:28074886|PMID:28082330|PMID:28087566|PMID:28255936|PMID:28341588|PMID:28349240|PMID:28416588|PMID:28425981|PMID:28492532|PMID:28518168 8719462 Lmna lamin A/C gene DOID:0070370 restrictive dermopathy 2 ISO RGD:732790 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: RESTRICTIVE DERMOPATHY 2, LETHAL | ClinVar Annotator: match by term: Restrictive dermopathy 2 PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28790152|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:29095976|PMID:29121657|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29253866|PMID:29255176|PMID:29431110|PMID:29438482|PMID:29540472|PMID:29551499|PMID:29557732|PMID:29620724|PMID:29693488|PMID:29709087|PMID:29773157|PMID:29791652|PMID:29892087|PMID:29895224|PMID:29943882|PMID:29952368|PMID:29961767|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30055862|PMID:30122538|PMID:30137533|PMID:30165862|PMID:30177912|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30429050|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30595509|PMID:30615648|PMID:30665423|PMID:30739589|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30919684|PMID:31006814|PMID:31019283|PMID:31194872|PMID:31303467|PMID:31383942|PMID:31428229|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31521807|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31857427|PMID:31931689|PMID:31977013|PMID:31980526|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32193531|PMID:32297714|PMID:32376792|PMID:32413188|PMID:32456328|PMID:32461654|PMID:32508047|PMID:32616434|PMID:32685188|PMID:32698523|PMID:32727917|PMID:32746448|PMID:32792077|PMID:32793522|PMID:32818388|PMID:32826072|PMID:32880476|PMID:32943904|PMID:33038109|PMID:33258288|PMID:33304817|PMID:33407844|PMID:33422685|PMID:33458588|PMID:33502018|PMID:33673806|PMID:33713793|PMID:33803191|PMID:33887581|PMID:33893211|PMID:33916827|PMID:33963534|PMID:34011823|PMID:34135346|PMID:34240052|PMID:34363016|PMID:34495297|PMID:34680903|PMID:34720847|PMID:34768595|PMID:34788595|PMID:34808346|PMID:34862408|PMID:34975533|PMID:34999423|PMID:35026164|PMID:35449878|PMID:35526016|PMID:35535697|PMID:35772917|PMID:35898701|PMID:36264615|PMID:36267857|PMID:36293084|PMID:36397776|PMID:36646731|PMID:36704457|PMID:36732629|PMID:36788754|PMID:36971006|PMID:37246508|PMID:37589201|PMID:37652022|PMID:37685926|PMID:37904629|PMID:38247853|PMID:38254962|PMID:38473809|PMID:38489124|PMID:38630155|PMID:38691546|PMID:4740717|PMID:8619549|PMID:9106535|PMID:9500556|PMID:9536098 8719462 Lmna lamin A/C gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:732790 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:12057196|PMID:16407522|PMID:16585054|PMID:17576681|PMID:18414213|PMID:18714801|PMID:19589617|PMID:20627339|PMID:21535365|PMID:22071332|PMID:23142632|PMID:24033266|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24846508|PMID:25525159|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28518168|PMID:28663758|PMID:28679633|PMID:29095976|PMID:29237690|PMID:31019283|PMID:31333075|PMID:31476771|PMID:31568572|PMID:32376792|PMID:33673806|PMID:34240052|PMID:8621584|PMID:9536098 8719462 Lmna lamin A/C gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:732790 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:12057196|PMID:16407522|PMID:16585054|PMID:17576681|PMID:18414213|PMID:18478590|PMID:18714801|PMID:19589617|PMID:20627339|PMID:21535365|PMID:22071332|PMID:23142632|PMID:24033266|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24846508|PMID:25274841|PMID:25525159|PMID:25741868|PMID:27182706|PMID:27532257|PMID:28492532|PMID:28518168|PMID:28663758|PMID:28679633|PMID:29095976|PMID:29237690|PMID:31019283|PMID:31333075|PMID:31383942|PMID:31476771|PMID:31568572|PMID:32376792|PMID:33673806|PMID:34240052|PMID:34862408|PMID:8621584|PMID:9536098 8719462 Lmna lamin A/C gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:732790 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:12057196|PMID:16407522|PMID:16585054|PMID:17377071|PMID:17576681|PMID:18414213|PMID:18478590|PMID:18714801|PMID:19589617|PMID:20627339|PMID:21535365|PMID:22071332|PMID:23142632|PMID:24033266|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24846508|PMID:25274841|PMID:25525159|PMID:25741868|PMID:27182706|PMID:27532257|PMID:28492532|PMID:28518168|PMID:28663758|PMID:28679633|PMID:29095976|PMID:29237690|PMID:30847666|PMID:31019283|PMID:31333075|PMID:31383942|PMID:31476771|PMID:31568572|PMID:32376792|PMID:33673806|PMID:34240052|PMID:34768595|PMID:34788595|PMID:34862408|PMID:38374194|PMID:8621584|PMID:9536098 8719462 Lmna lamin A/C gene DOID:0080334 aortic valve disease 2 ISO RGD:732790 D RGD:9068941 20200609 RGD protein:decreased expression:aorta wall, nucleus (human) PMID:24560417|REF_RGD_ID:12791292 8719462 Lmna lamin A/C gene DOID:0081127 mandibuloacral dysplasia ISO RGD:732790 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Mandibuloacral dysplasia PMID:10739764|PMID:11503164|PMID:12075506|PMID:12788894|PMID:14627682|PMID:15473259|PMID:16046620|PMID:16364671|PMID:16809772|PMID:17274801|PMID:17377071|PMID:17848409|PMID:18604166|PMID:19764019|PMID:20301609|PMID:24375749|PMID:25286833|PMID:25324471|PMID:25741868|PMID:25823658|PMID:28349240|PMID:28492532|PMID:28663758|PMID:29557732|PMID:32041611|PMID:32376792|PMID:33038109|PMID:33422685|PMID:33458588|PMID:34135346|PMID:34680903 8719462 Lmna lamin A/C gene DOID:0081128 mandibuloacral dysplasia type A lipodystrophy ISO RGD:732790 D RGD:7240710 20180130 OMIM 8719462 Lmna lamin A/C gene DOID:0081128 mandibuloacral dysplasia type A lipodystrophy ISO RGD:732790 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: LIPODYSTROPHY, TYPE A, ASSOCIATED WITH MANDIBULOACRAL DYSPLASIA | ClinVar Annotator: match by term: Lipodystrophy, type A, associated with mandibuloacral dysplasia | ClinVar Annotator: match by term: Mandibuloacral dysostosis | ClinVar Annotator: match by term: Mandibuloacral dysplasia with type A lipodystrophy | ClinVar Annotator: match by term: Mandibuloacral dysplasia with type A lipodystrophy, atypical PMID:10080180|PMID:10580070|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11792809|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12075506|PMID:12376891|PMID:12467734|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12702809|PMID:12716787|PMID:12768443|PMID:12784312|PMID:12788894|PMID:12920062|PMID:12927424|PMID:12927431|PMID:12938084|PMID:13129702|PMID:14510863|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14684700|PMID:14749366|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15286156|PMID:15298354|PMID:15372542|PMID:15473259|PMID:15475483|PMID:15531479|PMID:15678000|PMID:15744034|PMID:15770669|PMID:15843404|PMID:15965218|PMID:15998779|PMID:16046620|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16440304|PMID:16459536|PMID:16584978|PMID:16585054|PMID:16671095|PMID:16705075|PMID:16715312|PMID:16772334|PMID:16809772|PMID:17107595|PMID:17136397|PMID:17250669|PMID:17250699|PMID:17274801|PMID:17325275|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17612587|PMID:17711925|PMID:17760566|PMID:17848409|PMID:17893350|PMID:17935239|PMID:17987279|PMID:18035086|PMID:18348272|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551513|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18728124|PMID:18795223|PMID:18796515|PMID:18808171|PMID:18926329|PMID:19011997|PMID:19084400|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19446900|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19875478|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21400569|PMID:21465660|PMID:21479595|PMID:21520333|PMID:21632249|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22068161|PMID:22071332|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22355414|PMID:22431096|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22700598|PMID:22761994|PMID:22883396|PMID:22918509|PMID:23062543|PMID:23142632|PMID:23183350|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23702046|PMID:23783098|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24375749|PMID:24459210|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24846508|PMID:24861648|PMID:24915601|PMID:24943589|PMID:24990833|PMID:25025039|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25351510|PMID:25371241|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25982065|PMID:26027246|PMID:26084686|PMID:26183555|PMID:26220970|PMID:262236|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26392352|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26498160|PMID:26573435|PMID:26602028|PMID:26662654|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26743238|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26900797|PMID:26976018|PMID:27000522|PMID:27100822|PMID:27153395|PMID:27182706|PMID:27199538|PMID:27220833|PMID:2733290|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27498076|PMID:27504462|PMID:27506821|PMID:27529282|PMID:2753225|PMID:27532257|PMID:27585670 8719462 Lmna lamin A/C gene DOID:0081128 mandibuloacral dysplasia type A lipodystrophy ISO RGD:732790 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: LIPODYSTROPHY, TYPE A, ASSOCIATED WITH MANDIBULOACRAL DYSPLASIA | ClinVar Annotator: match by term: Lipodystrophy, type A, associated with mandibuloacral dysplasia | ClinVar Annotator: match by term: Mandibuloacral dysostosis | ClinVar Annotator: match by term: Mandibuloacral dysplasia with type A lipodystrophy | ClinVar Annotator: match by term: Mandibuloacral dysplasia with type A lipodystrophy, atypical PMID:27600705|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27845687|PMID:27854218|PMID:27884249|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28074886|PMID:28082330|PMID:28087566|PMID:28255936|PMID:28341588|PMID:28349240|PMID:28416588|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28874324|PMID:28878402|PMID:29040816|PMID:29095976|PMID:29121657|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29253866|PMID:29255176|PMID:29431110|PMID:29438482|PMID:29540472|PMID:29551499|PMID:29557732|PMID:29620724|PMID:29693488|PMID:29709087|PMID:29773157|PMID:29791652|PMID:29892087|PMID:29895224|PMID:29943882|PMID:29952368|PMID:29961767|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30055862|PMID:30107846|PMID:30122538|PMID:30137533|PMID:30165155|PMID:30165862|PMID:30177912|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30429050|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30595509|PMID:30615648|PMID:30665423|PMID:30739589|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30901896|PMID:30919684|PMID:31019283|PMID:31194872|PMID:31303467|PMID:31383942|PMID:31428229|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31521807|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31931689|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32193531|PMID:32376792|PMID:32413188|PMID:32455078|PMID:32456328|PMID:32461654|PMID:32475984|PMID:32508047|PMID:32616434|PMID:32685188|PMID:32698523|PMID:32727917|PMID:32746448|PMID:32792077|PMID:32793522|PMID:32818388|PMID:32826072|PMID:32880476|PMID:33038109|PMID:33258288|PMID:33304817|PMID:33407844|PMID:33422685|PMID:33458588|PMID:33500567|PMID:33502018|PMID:33673806|PMID:33713793|PMID:33803191|PMID:33803652|PMID:33887581|PMID:33893211|PMID:33916827|PMID:33963534|PMID:34011823|PMID:34135346|PMID:34240052|PMID:34340952|PMID:34363016|PMID:34495297|PMID:34680903|PMID:34720847|PMID:34768595|PMID:34788595|PMID:34808346|PMID:34862408|PMID:34865644|PMID:34935411|PMID:34975533|PMID:34999423|PMID:35026164|PMID:35291351|PMID:35449878|PMID:35526016|PMID:35533453|PMID:35535697|PMID:35772917|PMID:35898701|PMID:36264615|PMID:36267857|PMID:36293084|PMID:36397776|PMID:36646731|PMID:36704457|PMID:36788754|PMID:36971006|PMID:37246508|PMID:37589201|PMID:37652022|PMID:37679847|PMID:37685926|PMID:37904629|PMID:38247853|PMID:38254962|PMID:38473809|PMID:38489124|PMID:38630155|PMID:38691546|PMID:4740717|PMID:8619549|PMID:9106535|PMID:9500556|PMID:9536098 8719462 Lmna lamin A/C gene DOID:0110077 arrhythmogenic right ventricular dysplasia 9 ISO RGD:732790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 PMID:25741868 8719462 Lmna lamin A/C gene DOID:0110156 Charcot-Marie-Tooth disease type 2B1 ISO RGD:732790 D RGD:7240710 20180130 OMIM 8719462 Lmna lamin A/C gene DOID:0110156 Charcot-Marie-Tooth disease type 2B1 ISO RGD:732790 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2B1 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B1 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, neuronal, Type 2B1 PMID:10080180|PMID:10580070|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11792809|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12075506|PMID:12376891|PMID:12467734|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12702809|PMID:12716787|PMID:12788894|PMID:12920062|PMID:12927424|PMID:12927431|PMID:12938084|PMID:13129702|PMID:14510863|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14684700|PMID:14749366|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15372542|PMID:15473259|PMID:15475483|PMID:15531479|PMID:15678000|PMID:15744034|PMID:15770669|PMID:15843404|PMID:15965218|PMID:15998779|PMID:16046620|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16440304|PMID:16459536|PMID:16584978|PMID:16585054|PMID:16671095|PMID:16705075|PMID:16715312|PMID:16809772|PMID:16990647|PMID:17107595|PMID:17136397|PMID:17250669|PMID:17250699|PMID:17274801|PMID:17325275|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17612587|PMID:17711925|PMID:17760566|PMID:17848409|PMID:17893350|PMID:17987279|PMID:18035086|PMID:18348272|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551513|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18728124|PMID:18795223|PMID:18808171|PMID:18926329|PMID:19011997|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19446900|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19875478|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20576434|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21400569|PMID:21465660|PMID:21479595|PMID:21483645|PMID:21520333|PMID:21632249|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22068161|PMID:22071332|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22355414|PMID:22431096|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22700598|PMID:22761994|PMID:22883396|PMID:22918509|PMID:23062543|PMID:23142632|PMID:23183350|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:2338570|PMID:23427149|PMID:23582089|PMID:23702046|PMID:23783098|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24375749|PMID:24459210|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24846508|PMID:24861648|PMID:24915601|PMID:24943589|PMID:24990833|PMID:25025039|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25351510|PMID:25371241|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670|PMID:26027246|PMID:26084686|PMID:26183555|PMID:26220970|PMID:262236|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26392352|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26498160|PMID:26573435|PMID:26602028|PMID:26662654|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26743238|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26900797|PMID:26976018|PMID:27000522|PMID:27153395|PMID:27182706|PMID:27220833|PMID:2733290|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27498076|PMID:27504462|PMID:27506821|PMID:27529282|PMID:2753225|PMID:27532257|PMID:27585670|PMID:27600705|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27845687|PMID:27854218|PMID:27884249 8719462 Lmna lamin A/C gene DOID:0110156 Charcot-Marie-Tooth disease type 2B1 ISO RGD:732790 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2B1 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B1 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, neuronal, Type 2B1 PMID:27896052|PMID:27896284|PMID:27919367|PMID:28074886|PMID:28082330|PMID:28087566|PMID:28255936|PMID:28341588|PMID:28349240|PMID:28416588|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28874324|PMID:28878402|PMID:29040816|PMID:29095976|PMID:29121657|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29253866|PMID:29255176|PMID:29431110|PMID:29438482|PMID:29540472|PMID:29551499|PMID:29557732|PMID:29620724|PMID:29693488|PMID:29709087|PMID:29773157|PMID:29791652|PMID:29892087|PMID:29895224|PMID:29943882|PMID:29952368|PMID:29961767|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30055862|PMID:30107846|PMID:30122538|PMID:30137533|PMID:30165155|PMID:30165862|PMID:30177912|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30429050|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30595509|PMID:30615648|PMID:30665423|PMID:30739589|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30919684|PMID:31019283|PMID:31194872|PMID:31303467|PMID:31383942|PMID:31410651|PMID:31428229|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31521807|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31931689|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32193531|PMID:32376792|PMID:32413188|PMID:32455078|PMID:32456328|PMID:32461654|PMID:32508047|PMID:32616434|PMID:32657593|PMID:32685188|PMID:32698523|PMID:32727917|PMID:32746448|PMID:32792077|PMID:32793522|PMID:32818388|PMID:32826072|PMID:32880476|PMID:33038109|PMID:33070394|PMID:33258288|PMID:33304817|PMID:33407844|PMID:33422685|PMID:33458588|PMID:33500567|PMID:33502018|PMID:33673806|PMID:33713793|PMID:33803191|PMID:33803652|PMID:33824984|PMID:33887581|PMID:33893211|PMID:33916827|PMID:33963534|PMID:34011823|PMID:34135346|PMID:34240052|PMID:34340952|PMID:34363016|PMID:34495297|PMID:34680903|PMID:34720847|PMID:34768595|PMID:34788595|PMID:34808346|PMID:34862408|PMID:34865644|PMID:34935411|PMID:34954454|PMID:34975533|PMID:34999423|PMID:35026164|PMID:35239206|PMID:35291351|PMID:35387801|PMID:35434999|PMID:35449878|PMID:35526016|PMID:35533453|PMID:35535697|PMID:35772917|PMID:35898701|PMID:36264615|PMID:36267857|PMID:36293084|PMID:36352512|PMID:36397776|PMID:36646731|PMID:36704457|PMID:36788754|PMID:36971006|PMID:37246508|PMID:37589201|PMID:37652022|PMID:37679847|PMID:37685926|PMID:37904629|PMID:38048861|PMID:38247853|PMID:38254962|PMID:38473809|PMID:38489124|PMID:38630155|PMID:38691546|PMID:4740717|PMID:8619549|PMID:9106535|PMID:9500556|PMID:9536098 8719462 Lmna lamin A/C gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:732790 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive PMID:12920062|PMID:15475483|PMID:15998779|PMID:17377071|PMID:17576681|PMID:18414213|PMID:18549403|PMID:18795223|PMID:19318026|PMID:19424285|PMID:19427440|PMID:19638735|PMID:23861362|PMID:24001739|PMID:24033266|PMID:24721642|PMID:25741868|PMID:26467025|PMID:26602028|PMID:27896052|PMID:28492532|PMID:28679633|PMID:28785654|PMID:9536098 8719462 Lmna lamin A/C gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:732790 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, recessive PMID:11102973|PMID:12920062|PMID:15475483|PMID:15998779|PMID:17377071|PMID:17576681|PMID:18414213|PMID:18549403|PMID:18795223|PMID:19318026|PMID:19424285|PMID:19427440|PMID:19638735|PMID:21465660|PMID:23861362|PMID:24001739|PMID:24033266|PMID:24721642|PMID:25741868|PMID:26467025|PMID:26602028|PMID:27896052|PMID:28492532|PMID:28679633|PMID:28785654|PMID:29237675|PMID:29952368|PMID:30402260|PMID:32818388|PMID:33407844|PMID:9536098 8719462 Lmna lamin A/C gene DOID:0110276 autosomal recessive limb-girdle muscular dystrophy type 2B ISO RGD:732790 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2B PMID:18585512|PMID:18926329|PMID:25741868|PMID:28492532|PMID:31263448 8719462 Lmna lamin A/C gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:732790 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10580070|PMID:16407522|PMID:16585054|PMID:18414213|PMID:18714801|PMID:20627339|PMID:22071332|PMID:23142632|PMID:24033266|PMID:24503780|PMID:24846508|PMID:25525159|PMID:25741868|PMID:27532257|PMID:27760138|PMID:28492532|PMID:28518168|PMID:28663758|PMID:28679633|PMID:29095976|PMID:29237690|PMID:31019283|PMID:31476771|PMID:33673806|PMID:34240052|PMID:8621584 8719462 Lmna lamin A/C gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:732790 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10580070|PMID:16407522|PMID:16585054|PMID:17576681|PMID:18414213|PMID:18478590|PMID:18714801|PMID:20627339|PMID:22071332|PMID:23142632|PMID:24033266|PMID:24503780|PMID:24846508|PMID:25274841|PMID:25525159|PMID:25741868|PMID:27182706|PMID:27532257|PMID:27760138|PMID:28492532|PMID:28518168|PMID:28663758|PMID:28679633|PMID:29095976|PMID:29237690|PMID:31019283|PMID:31383942|PMID:31476771|PMID:32376792|PMID:33673806|PMID:34240052|PMID:34768595|PMID:34788595|PMID:34862408|PMID:8621584|PMID:9536098 8719462 Lmna lamin A/C gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:732790 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10580070|PMID:16407522|PMID:16585054|PMID:17377071|PMID:17576681|PMID:18414213|PMID:18478590|PMID:18714801|PMID:20627339|PMID:22071332|PMID:23142632|PMID:24033266|PMID:24503780|PMID:24846508|PMID:25274841|PMID:25525159|PMID:25741868|PMID:27182706|PMID:27532257|PMID:27760138|PMID:28492532|PMID:28518168|PMID:28663758|PMID:28679633|PMID:29095976|PMID:29237690|PMID:30847666|PMID:31019283|PMID:31383942|PMID:31476771|PMID:32376792|PMID:33673806|PMID:34240052|PMID:34768595|PMID:34788595|PMID:34862408|PMID:8621584|PMID:9536098 8719462 Lmna lamin A/C gene DOID:0110308 hypertrophic cardiomyopathy 2 ISO RGD:732790 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 2 PMID:12920062|PMID:18414213|PMID:18795223|PMID:19318026|PMID:19424285|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 8719462 Lmna lamin A/C gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:732790 D RGD:7240710 20180919 OMIM 8719462 Lmna lamin A/C gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:732790 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A | ClinVar Annotator: match by term: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12057196|PMID:12196663|PMID:12467734|PMID:12486434|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12768443|PMID:12783988|PMID:12920062|PMID:12927424|PMID:12927431|PMID:13129702|PMID:14510863|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:14985400|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15219508|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15539782|PMID:15678000|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15972724|PMID:15998779|PMID:16008174|PMID:16061563|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16440304|PMID:16459536|PMID:16585054|PMID:16671095|PMID:16715312|PMID:16809772|PMID:16965317|PMID:16990647|PMID:17250669|PMID:17274801|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17711925|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18041775|PMID:18182166|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18538321|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19167105|PMID:19169477|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19446900|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19859838|PMID:19875404|PMID:19882644|PMID:2007407|PMID:20074070|PMID:20130076|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20576434|PMID:20625965|PMID:20627339|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21173262|PMID:21315846|PMID:21479595|PMID:21483645|PMID:21520333|PMID:21632249|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22337857|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:2270059|PMID:22700598|PMID:22806367|PMID:22883396|PMID:22918509|PMID:23062543|PMID:23142632|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23701190|PMID:23783098|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24080738|PMID:24108105|PMID:24237251|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24846508|PMID:24915601|PMID:25025039|PMID:25163546|PMID:25210889|PMID:25214167|PMID:2526018|PMID:25343322|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25793944|PMID:25873806|PMID:25885670|PMID:25948554|PMID:25987458|PMID:26027246|PMID:26084686|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26392352|PMID:26404900|PMID:26467025|PMID:26498160|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27153395|PMID:27235420|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27595935|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27760138|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052 8719462 Lmna lamin A/C gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:732790 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A | ClinVar Annotator: match by term: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation PMID:27896284|PMID:27919367|PMID:28074886|PMID:28087566|PMID:28255936|PMID:28333919|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28620495|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878402|PMID:28912206|PMID:29040816|PMID:29057633|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29382405|PMID:29432544|PMID:29438482|PMID:29620724|PMID:29693488|PMID:29791652|PMID:29892087|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30420677|PMID:30528549|PMID:30564623|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30919684|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31847799|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32160020|PMID:32376792|PMID:32666643|PMID:32727917|PMID:32746448|PMID:32818388|PMID:32826072|PMID:32880476|PMID:33258288|PMID:33407844|PMID:33502018|PMID:33673806|PMID:33963534|PMID:34240052|PMID:34363016|PMID:34768595|PMID:34999423|PMID:35535697|PMID:4740717|PMID:8621584|PMID:9500556|PMID:9536098 8719462 Lmna lamin A/C gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:732790 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 1 | ClinVar Annotator: match by term: Dilated cardiomyopathy 1A | ClinVar Annotator: match by term: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11138304|PMID:11180602|PMID:11231979|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12376891|PMID:12467734|PMID:12467752|PMID:12486434|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12702809|PMID:12716787|PMID:12768443|PMID:12783988|PMID:12788894|PMID:12920062|PMID:12927424|PMID:12927431|PMID:12938084|PMID:13129702|PMID:14510863|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:14985400|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15219508|PMID:15298354|PMID:15372542|PMID:15473259|PMID:15475483|PMID:15531479|PMID:15539782|PMID:15678000|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15843404|PMID:15866440|PMID:15965218|PMID:15972724|PMID:15998779|PMID:16008174|PMID:16046620|PMID:16061563|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16440304|PMID:16459536|PMID:16584978|PMID:16585054|PMID:16671095|PMID:16705075|PMID:16715312|PMID:16772334|PMID:16809772|PMID:16965317|PMID:16990647|PMID:17107595|PMID:17136397|PMID:17250669|PMID:17250699|PMID:17274801|PMID:17325275|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17612587|PMID:17711925|PMID:17760566|PMID:17848409|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18041775|PMID:18348272|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18538321|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18796515|PMID:18808171|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19084400|PMID:19095983|PMID:19167105|PMID:19169477|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19446900|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19768759|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19875478|PMID:19882644|PMID:20041886|PMID:2007407|PMID:20074070|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20576434|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21173262|PMID:21179469|PMID:21315846|PMID:21400569|PMID:21462202|PMID:21465660|PMID:21479595|PMID:21483645|PMID:21520333|PMID:21632249|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22068161|PMID:22071332|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22337857|PMID:22355414|PMID:22431096|PMID:22464770|PMID:22526018|PMID:22570643|PMID:2270059|PMID:22700598|PMID:22761994|PMID:22806367|PMID:22883396|PMID:22918509|PMID:23062543|PMID:23142632|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23483212|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23666920|PMID:23701190|PMID:23702046|PMID:23783098|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24080738|PMID:24108105|PMID:24237251|PMID:24375749|PMID:24386194|PMID:24459210|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24656463|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24846508|PMID:24861648|PMID:24915601|PMID:24943589|PMID:24990833|PMID:25025039|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25256213|PMID:25274841|PMID:25286833 8719462 Lmna lamin A/C gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:732790 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 1 | ClinVar Annotator: match by term: Dilated cardiomyopathy 1A | ClinVar Annotator: match by term: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation PMID:25319090|PMID:25324471|PMID:25327215|PMID:25343322|PMID:25351510|PMID:25371241|PMID:25448463|PMID:25469153|PMID:25498755|PMID:25524705|PMID:25525159|PMID:25569433|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25793944|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:26027246|PMID:26084686|PMID:26183555|PMID:26220970|PMID:262236|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26392352|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26498160|PMID:26573435|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26743238|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26900797|PMID:26976018|PMID:27000522|PMID:27153395|PMID:27182706|PMID:27199538|PMID:27220833|PMID:27235420|PMID:2733290|PMID:27332903|PMID:27363342|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27498076|PMID:27504462|PMID:27506821|PMID:27529282|PMID:2753225|PMID:27532257|PMID:27585670|PMID:27595935|PMID:27600705|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27760138|PMID:27813223|PMID:27841971|PMID:27845687|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28082330|PMID:28087566|PMID:28123761|PMID:28199729|PMID:28255936|PMID:28333919|PMID:28341588|PMID:28349240|PMID:28408391|PMID:28416588|PMID:28425981|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28620495|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878402|PMID:29040816|PMID:29047356|PMID:29057633|PMID:29095976|PMID:29121657|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29253866|PMID:29255176|PMID:29382405|PMID:29386531|PMID:29431110|PMID:29432544|PMID:29438482|PMID:29540472|PMID:29551499|PMID:29557732|PMID:29620724|PMID:29693488|PMID:29709087|PMID:29758562|PMID:29773157|PMID:29791652|PMID:29892087|PMID:29895224|PMID:29943882|PMID:29952368|PMID:29961767|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30055862|PMID:30107846|PMID:30122538|PMID:30123186|PMID:30137533|PMID:30165155|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30199159|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30429050|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30595509|PMID:30615648|PMID:30665423|PMID:30696354|PMID:30739589|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30919684|PMID:31019283|PMID:31127727|PMID:31194872|PMID:31208058|PMID:31264968|PMID:31296869|PMID:31303467|PMID:31317183|PMID:31383942|PMID:31402444|PMID:31410651|PMID:31428229|PMID:31434876|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31521807|PMID:31525256|PMID:31744510|PMID:31762841|PMID:31794942|PMID:31829210|PMID:31836692|PMID:31847799|PMID:31857427|PMID:31931689|PMID:31957533|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32021920|PMID:32041611|PMID:32083564|PMID:32160020|PMID:32193531|PMID:32245113|PMID:32376792|PMID:32413188|PMID:32455078|PMID:32456328|PMID:32461654|PMID:32508047|PMID:32517491|PMID:32548202|PMID:32571898|PMID:32616434|PMID:32666643|PMID:32685188|PMID:32698523|PMID:32727917|PMID:32740430|PMID:32746448|PMID:32789579|PMID:32792077|PMID:32793522|PMID:32818388|PMID:32826072|PMID:32880476|PMID:32913962|PMID:32939435|PMID:32954377|PMID:33029862|PMID:33038109|PMID:33070394|PMID:33258288|PMID:33304817|PMID:33407844|PMID:33422685|PMID:33458588|PMID:33500567|PMID:33502018|PMID:33673806|PMID:33713793|PMID:33803191|PMID:33803652|PMID:33824984|PMID:33887581|PMID:33893211|PMID:33916827|PMID:33963534|PMID:34011823|PMID:34135346|PMID:34240052|PMID:34340952|PMID:34363016|PMID:34461741|PMID:34495297|PMID:34680903|PMID:34720847|PMID:34768595|PMID:34773379|PMID:34788595|PMID:34808346|PMID:34862408|PMID:34865644|PMID:34935411|PMID:34954454|PMID:34975533|PMID:34999423|PMID:35026164|PMID:35239206|PMID:35288587|PMID:35291351|PMID:35384599 8719462 Lmna lamin A/C gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:732790 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 1 | ClinVar Annotator: match by term: Dilated cardiomyopathy 1A | ClinVar Annotator: match by term: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation PMID:35387801|PMID:35434999|PMID:35449878|PMID:35470680|PMID:35470684|PMID:35526016|PMID:35533453|PMID:35535697|PMID:35653365|PMID:35772917|PMID:35887646|PMID:35898701|PMID:36111332|PMID:36178741|PMID:36253810|PMID:36264615|PMID:36267857|PMID:36282542|PMID:36293084|PMID:36352512|PMID:36397776|PMID:36548481|PMID:36646731|PMID:36704457|PMID:36732629|PMID:36788754|PMID:36971006|PMID:37246508|PMID:37589201|PMID:37652022|PMID:37679847|PMID:37685926|PMID:37904629|PMID:38048861|PMID:38247853|PMID:38254962|PMID:38473809|PMID:38489124|PMID:38630155|PMID:38691546|PMID:38979608|PMID:4740717|PMID:8344919|PMID:8619549|PMID:8621584|PMID:9106535|PMID:9500556|PMID:9536098 8719462 Lmna lamin A/C gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:732790 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:11561226|PMID:11897440|PMID:12376891|PMID:12467752|PMID:14597414|PMID:15372542|PMID:15843404|PMID:16584978|PMID:16715312|PMID:17107595|PMID:17377071|PMID:17612587|PMID:17711925|PMID:17987279|PMID:18478590|PMID:18585512|PMID:18606848|PMID:18795223|PMID:18808171|PMID:18926329|PMID:19318026|PMID:19524666|PMID:19875404|PMID:20160190|PMID:21400569|PMID:21840938|PMID:21846512|PMID:22224630|PMID:22266370|PMID:22464770|PMID:22761994|PMID:23142632|PMID:23183350|PMID:23349452|PMID:23811080|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24033266|PMID:24058181|PMID:24503780|PMID:24623722|PMID:24794538|PMID:24846508|PMID:25210889|PMID:25448463|PMID:25469153|PMID:25741868|PMID:26383716|PMID:26467025|PMID:26743238|PMID:26899768|PMID:27026223|PMID:27373676|PMID:27421120|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27723096|PMID:27886618|PMID:28436080|PMID:28492532|PMID:28531892|PMID:28759816|PMID:28790152|PMID:28790155|PMID:28878402|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29382405|PMID:29709087|PMID:29943882|PMID:30007954|PMID:30078822|PMID:30165862|PMID:30178466|PMID:30287275|PMID:30402260|PMID:30420677|PMID:30528549|PMID:30739589|PMID:30765282|PMID:30847666|PMID:30871747|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31428229|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31521807|PMID:31737537|PMID:31829210|PMID:31977013|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32376792|PMID:32413188|PMID:32616434|PMID:32698523|PMID:32793522|PMID:32880476|PMID:33673806|PMID:33887581|PMID:34240052|PMID:34363016|PMID:34768595|PMID:34808346|PMID:34862408|PMID:34975533|PMID:35434999|PMID:35449878|PMID:35526016|PMID:35653365|PMID:36178741|PMID:36548481|PMID:37904629|PMID:38247853 8719462 Lmna lamin A/C gene DOID:0110454 dilated cardiomyopathy 1S ISO RGD:732790 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1S PMID:11897440|PMID:15219508|PMID:15539782|PMID:16061563|PMID:16537768|PMID:17334235|PMID:19589617|PMID:22199124|PMID:22918509|PMID:23183350|PMID:23349452|PMID:23701190|PMID:24033266|PMID:24386194|PMID:25741868|PMID:25988045|PMID:26199943|PMID:26332594|PMID:26467025|PMID:26899768|PMID:27498076|PMID:27529282|PMID:27919367|PMID:28074886|PMID:28255936|PMID:28492532|PMID:28663758|PMID:29253866|PMID:29557732|PMID:29791652|PMID:29947763|PMID:30420677|PMID:30847666|PMID:31383942|PMID:31857427|PMID:32041611|PMID:32041989|PMID:32616434|PMID:32685188|PMID:32880476|PMID:33713793|PMID:33803191|PMID:35449878|PMID:35772917 8719462 Lmna lamin A/C gene DOID:0110498 autosomal recessive nonsyndromic deafness 4 ISO RGD:732790 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct PMID:21465660|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26602028|PMID:28492532 8719462 Lmna lamin A/C gene DOID:0110525 autosomal recessive nonsyndromic deafness 77 ISO RGD:732790 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 77 PMID:21465660|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26602028|PMID:28492532 8719462 Lmna lamin A/C gene DOID:0110640 congenital muscular dystrophy due to LMNA mutation ISO RGD:732790 D RGD:7240710 20180130 OMIM 8719462 Lmna lamin A/C gene DOID:0110640 congenital muscular dystrophy due to LMNA mutation ISO RGD:732790 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy due to LMNA mutation | ClinVar Annotator: match by term: Congenital muscular dystrophy, LMNA-related PMID:10080180|PMID:10580070|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12376891|PMID:12467734|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12702809|PMID:12716787|PMID:12768443|PMID:12788894|PMID:12920062|PMID:12927424|PMID:12927431|PMID:12938084|PMID:13129702|PMID:14510863|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14684700|PMID:14749366|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15148145|PMID:15298354|PMID:15372542|PMID:15473259|PMID:15475483|PMID:15531479|PMID:15622532|PMID:15678000|PMID:15744034|PMID:15770669|PMID:15832002|PMID:15843404|PMID:15919811|PMID:15961312|PMID:15965218|PMID:15998779|PMID:16046620|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16440304|PMID:16459536|PMID:16478798|PMID:16584978|PMID:16585054|PMID:16671095|PMID:16705075|PMID:16715312|PMID:16809772|PMID:16990647|PMID:17107595|PMID:17136397|PMID:17250669|PMID:17250699|PMID:17274801|PMID:17325275|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17612587|PMID:17711925|PMID:17760566|PMID:17848409|PMID:17881656|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18035086|PMID:18348272|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18728124|PMID:18795223|PMID:18796515|PMID:18808171|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19084400|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19446900|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19875478|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20376791|PMID:20497714|PMID:20576434|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20886652|PMID:20980393|PMID:21173262|PMID:21400569|PMID:21465660|PMID:21479595|PMID:21483645|PMID:21520333|PMID:21535365|PMID:21632249|PMID:21653823|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22068161|PMID:22071332|PMID:22090424|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22355414|PMID:22431096|PMID:22464770|PMID:22491857|PMID:22526018|PMID:22570643|PMID:22700598|PMID:22761994|PMID:22883396|PMID:22918509|PMID:23062543|PMID:23142632|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23360689|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23702046|PMID:23783098|PMID:23785128|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24375749|PMID:24459210|PMID:24503780|PMID:24508248|PMID:24623722|PMID:24642510|PMID:24656463|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24806962|PMID:24846508|PMID:24861648|PMID:24915601|PMID:24943589|PMID:24990833|PMID:25025039|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25326635|PMID:25343322|PMID:25351510|PMID:25371241|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25635128|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25948554|PMID:25982065|PMID:25987458|PMID:26027246|PMID:26084686|PMID:26098624|PMID:26165385|PMID:26183555|PMID:26220970|PMID:262236|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26392352|PMID:26404900|PMID:26443318 8719462 Lmna lamin A/C gene DOID:0110640 congenital muscular dystrophy due to LMNA mutation ISO RGD:732790 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy due to LMNA mutation | ClinVar Annotator: match by term: Congenital muscular dystrophy, LMNA-related PMID:26467025|PMID:26498160|PMID:26573435|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26743238|PMID:26752647|PMID:26756202|PMID:26867126|PMID:26899768|PMID:26900797|PMID:26976018|PMID:27000522|PMID:27153395|PMID:27182706|PMID:27199538|PMID:27220833|PMID:2733290|PMID:27332903|PMID:27363342|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27498076|PMID:27504462|PMID:27506821|PMID:27529282|PMID:2753225|PMID:27532257|PMID:27585670|PMID:27600705|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27845687|PMID:27854218|PMID:27876398|PMID:27884249|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28074886|PMID:28082330|PMID:28087566|PMID:28125586|PMID:28255936|PMID:28341588|PMID:28349240|PMID:28416588|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28874324|PMID:28878402|PMID:28987496|PMID:29040816|PMID:29057633|PMID:29095976|PMID:29121657|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29253866|PMID:29255176|PMID:29431110|PMID:29438482|PMID:29540472|PMID:29551499|PMID:29557732|PMID:29620724|PMID:29669293|PMID:29693488|PMID:29709087|PMID:29773157|PMID:29791652|PMID:29892087|PMID:29893365|PMID:29895224|PMID:29943882|PMID:29952368|PMID:29961767|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30055862|PMID:30107846|PMID:30122538|PMID:30137533|PMID:30165155|PMID:30165862|PMID:30177912|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30405424|PMID:30418556|PMID:30420677|PMID:30429050|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30595509|PMID:30615648|PMID:30665423|PMID:30739589|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30919684|PMID:31019283|PMID:31127727|PMID:31194872|PMID:31303467|PMID:31383942|PMID:31410651|PMID:31428229|PMID:31434876|PMID:31447099|PMID:31475473|PMID:31476771|PMID:31498906|PMID:31514951|PMID:31521807|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31931689|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32193531|PMID:32231000|PMID:32244403|PMID:32376792|PMID:32413188|PMID:32455078|PMID:32455813|PMID:32456328|PMID:32461654|PMID:32508047|PMID:32528171|PMID:32571898|PMID:32616434|PMID:32685188|PMID:32698523|PMID:32727917|PMID:32746448|PMID:32789750|PMID:32792077|PMID:32793522|PMID:32818388|PMID:32826072|PMID:32880476|PMID:33038109|PMID:33070394|PMID:33142761|PMID:33258288|PMID:33304817|PMID:33396724|PMID:33407844|PMID:33422685|PMID:33458588|PMID:33500567|PMID:33502018|PMID:33673806|PMID:33713793|PMID:33803191|PMID:33803652|PMID:33824984|PMID:33887581|PMID:33893211|PMID:33916827|PMID:33940562|PMID:33963534|PMID:34008892|PMID:34011823|PMID:34135346|PMID:34240052|PMID:34340952|PMID:34363016|PMID:34495297|PMID:34638534|PMID:34680903|PMID:34720847|PMID:34768595|PMID:34788595|PMID:34808346|PMID:34862408|PMID:34865644|PMID:34872044|PMID:34935411|PMID:34954454|PMID:34975533|PMID:34999423|PMID:35026164|PMID:35239206|PMID:35284542|PMID:35291351|PMID:35387801|PMID:35434999|PMID:35449878|PMID:35526016|PMID:35533453|PMID:35535697|PMID:35772917|PMID:35898701|PMID:36253810|PMID:36264615|PMID:36267857|PMID:36293084|PMID:36325899|PMID:36352512|PMID:36397776|PMID:36646731|PMID:36704457|PMID:36788754|PMID:36971006|PMID:37035729|PMID:37246508|PMID:37589201|PMID:37652022|PMID:37679847|PMID:37685926|PMID:37904629|PMID:38048861|PMID:38247853|PMID:38254962|PMID:38374194|PMID:38473809|PMID:38489124|PMID:38630155|PMID:38691546|PMID:4740717|PMID:8619549|PMID:9106535|PMID:9500556|PMID:9536098 8719462 Lmna lamin A/C gene DOID:0111198 autosomal dominant distal hereditary motor neuronopathy ISO RGD:732790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant PMID:18585512|PMID:18926329|PMID:25741868|PMID:25886484|PMID:28152038|PMID:28492532 8719462 Lmna lamin A/C gene DOID:0111584 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome ISO RGD:732790 D RGD:7240710 20180130 OMIM 8719462 Lmna lamin A/C gene DOID:0111584 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome ISO RGD:732790 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome | ClinVar Annotator: match by term: Genital anomaly with cardiomyopathy | ClinVar Annotator: match by term: NAJJAR SYNDROME PMID:10080180|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11015599|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11344241|PMID:11503164|PMID:11792809|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12075506|PMID:12376891|PMID:12467734|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12702809|PMID:12716787|PMID:12788894|PMID:12920062|PMID:12927424|PMID:12927431|PMID:12938084|PMID:13129702|PMID:14510863|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14684700|PMID:14749366|PMID:14985400|PMID:15053843|PMID:15060110|PMID:15219508|PMID:15298354|PMID:15372542|PMID:15473259|PMID:15475483|PMID:15531479|PMID:15539782|PMID:15678000|PMID:15744034|PMID:15770669|PMID:15843404|PMID:15965218|PMID:16046620|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16459536|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16705075|PMID:16715312|PMID:16809772|PMID:17107595|PMID:17136397|PMID:17150192|PMID:17250669|PMID:17250699|PMID:17274801|PMID:17325275|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17612587|PMID:17711925|PMID:17760566|PMID:17848409|PMID:17893350|PMID:17987279|PMID:18035086|PMID:18035816|PMID:18348272|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551513|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18646565|PMID:18728124|PMID:18795223|PMID:18796515|PMID:18808171|PMID:18926329|PMID:19011997|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19283854|PMID:19318026|PMID:19401371|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19446900|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19764019|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19875478|PMID:2007407|PMID:20074070|PMID:20130076|PMID:20155465|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21400569|PMID:21462202|PMID:21479595|PMID:21520333|PMID:21632249|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22068161|PMID:22071332|PMID:22103509|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22355414|PMID:22431096|PMID:22464770|PMID:22526018|PMID:22570643|PMID:2270059|PMID:22700598|PMID:22761994|PMID:22883396|PMID:22918509|PMID:23062543|PMID:23142632|PMID:23183350|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23427149|PMID:23582089|PMID:23702046|PMID:23783098|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24058181|PMID:24080738|PMID:24108105|PMID:24375749|PMID:24459210|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24794538|PMID:24846508|PMID:24861648|PMID:24915601|PMID:24943589|PMID:24990833|PMID:25025039|PMID:25163546|PMID:25210889|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25371241|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25793944|PMID:25823658|PMID:25873806|PMID:25885670|PMID:26027246|PMID:26084686|PMID:262236|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26573435|PMID:26662654|PMID:26724531|PMID:26733286|PMID:26743238|PMID:26756202|PMID:26899768|PMID:26900797|PMID:26976018|PMID:27000522|PMID:27153395|PMID:27182706|PMID:27220833|PMID:2733290|PMID:27332903|PMID:27405450|PMID:27421120|PMID:27447704|PMID:27498076|PMID:27504462|PMID:27506821|PMID:27529282|PMID:27532257|PMID:27585670|PMID:27600705|PMID:27633507|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27845687|PMID:27884249|PMID:27896284|PMID:27919367|PMID:28074886|PMID:28082330|PMID:28087566|PMID:28254189 8719462 Lmna lamin A/C gene DOID:0111584 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome ISO RGD:732790 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome | ClinVar Annotator: match by term: Genital anomaly with cardiomyopathy | ClinVar Annotator: match by term: NAJJAR SYNDROME PMID:28255936|PMID:28341588|PMID:28349240|PMID:28416588|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28620495|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28790152|PMID:28807990|PMID:28874324|PMID:28878402|PMID:29095976|PMID:29121657|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29253866|PMID:29255176|PMID:29431110|PMID:29438482|PMID:29540472|PMID:29551499|PMID:29557732|PMID:29620724|PMID:29693488|PMID:29709087|PMID:29773157|PMID:29791652|PMID:29892087|PMID:29895224|PMID:29943882|PMID:29952368|PMID:29961767|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30055862|PMID:30122538|PMID:30137533|PMID:30165155|PMID:30165862|PMID:30177912|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30429050|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30595509|PMID:30615648|PMID:30665423|PMID:30739589|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30919684|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31270292|PMID:31303467|PMID:31383942|PMID:31428229|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31521807|PMID:31525256|PMID:31539150|PMID:31744510|PMID:31794942|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31931689|PMID:31977013|PMID:31980526|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32193531|PMID:32376792|PMID:32413188|PMID:32456328|PMID:32461654|PMID:32508047|PMID:32517491|PMID:32616434|PMID:32685188|PMID:32698523|PMID:32727917|PMID:32746448|PMID:32792077|PMID:32793522|PMID:32818388|PMID:32826072|PMID:32880476|PMID:32913962|PMID:32939435|PMID:33038109|PMID:33258288|PMID:33304817|PMID:33407844|PMID:33422685|PMID:33458588|PMID:33502018|PMID:33673806|PMID:33713793|PMID:33803191|PMID:33803652|PMID:33887581|PMID:33893211|PMID:33916827|PMID:33963534|PMID:34011823|PMID:34135346|PMID:34240052|PMID:34340952|PMID:34363016|PMID:34461741|PMID:34495297|PMID:34680903|PMID:34720847|PMID:34768595|PMID:34788595|PMID:34808346|PMID:34862408|PMID:34865644|PMID:34975533|PMID:34999423|PMID:35026164|PMID:35291351|PMID:35384599|PMID:35449878|PMID:35470680|PMID:35526016|PMID:35535697|PMID:35772917|PMID:35898701|PMID:36264615|PMID:36267857|PMID:36293084|PMID:36397776|PMID:36646731|PMID:36704457|PMID:36788754|PMID:36971006|PMID:37246508|PMID:37589201|PMID:37652022|PMID:37679847|PMID:37685926|PMID:37904629|PMID:38247853|PMID:38254962|PMID:38473809|PMID:38489124|PMID:38630155|PMID:38691546|PMID:4684700|PMID:4740717|PMID:8619549|PMID:9106535|PMID:9500556|PMID:9536098 8719462 Lmna lamin A/C gene DOID:0111940 immunodeficiency 42 ISO RGD:732790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8719462 Lmna lamin A/C gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:732790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8719462 Lmna lamin A/C gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:732790 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8719462 Lmna lamin A/C gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy PMID:10587585|PMID:10655060|PMID:10739751|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11180602|PMID:11342468|PMID:11344241|PMID:12057196|PMID:12075506|PMID:12376891|PMID:12467752|PMID:12702809|PMID:12788894|PMID:12920062|PMID:14597414|PMID:14627682|PMID:14684700|PMID:14985400|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15770669|PMID:15965218|PMID:15998779|PMID:16084085|PMID:16585054|PMID:16809772|PMID:17107595|PMID:17250669|PMID:17250699|PMID:17377071|PMID:17848409|PMID:18348272|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18604166|PMID:18714801|PMID:18795223|PMID:18926329|PMID:19220582|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19524666|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19842191|PMID:19859838|PMID:19875404|PMID:20130076|PMID:20160190|PMID:20497714|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:21520333|PMID:21535365|PMID:21831885|PMID:21883346|PMID:21980471|PMID:22071332|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22526018|PMID:22570643|PMID:23062543|PMID:23183350|PMID:23349452|PMID:23804595|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24033266|PMID:24055113|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24721642|PMID:24794538|PMID:24861648|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25214167|PMID:2526018|PMID:25324471|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670|PMID:26467025|PMID:26498160|PMID:26602028|PMID:26662654|PMID:27000522|PMID:27153395|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27650965|PMID:27723096|PMID:27841901|PMID:27841971|PMID:27884249|PMID:27896052|PMID:27896284|PMID:28087566|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28701371|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28878402|PMID:29078011|PMID:29237675|PMID:29438482|PMID:29943882|PMID:30007954|PMID:30012837|PMID:30402260|PMID:30420677|PMID:30488537|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31303467|PMID:31744510|PMID:32456328|PMID:8621584 8719462 Lmna lamin A/C gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732790 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10587585|PMID:10655060|PMID:10739751|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11180602|PMID:11342468|PMID:11344241|PMID:12057196|PMID:12075506|PMID:12376891|PMID:12467752|PMID:12702809|PMID:12788894|PMID:12920062|PMID:14597414|PMID:14627682|PMID:14684700|PMID:14985400|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15770669|PMID:15965218|PMID:15998779|PMID:16084085|PMID:16585054|PMID:16809772|PMID:17107595|PMID:17250669|PMID:17250699|PMID:17377071|PMID:17848409|PMID:18348272|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18604166|PMID:18714801|PMID:18795223|PMID:18926329|PMID:19220582|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19524666|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19842191|PMID:19859838|PMID:19875404|PMID:20130076|PMID:20160190|PMID:20497714|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:21520333|PMID:21535365|PMID:21831885|PMID:21883346|PMID:21980471|PMID:22071332|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22526018|PMID:22570643|PMID:23062543|PMID:23183350|PMID:23299917|PMID:23349452|PMID:23804595|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24033266|PMID:24055113|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24721642|PMID:24794538|PMID:24861648|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25214167|PMID:2526018|PMID:25324471|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670|PMID:26467025|PMID:26498160|PMID:26602028|PMID:26662654|PMID:27000522|PMID:27153395|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27650965|PMID:27723096|PMID:27841901|PMID:27841971|PMID:27884249|PMID:27896052|PMID:27896284|PMID:28087566|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28701371|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28878402|PMID:29078011|PMID:29237675|PMID:29438482|PMID:29943882|PMID:30007954|PMID:30012837|PMID:30402260|PMID:30420677|PMID:30488537|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31303467|PMID:31383942|PMID:31744510|PMID:32376792|PMID:32456328|PMID:32880476|PMID:8621584 8719462 Lmna lamin A/C gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732790 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11180602|PMID:11342468|PMID:11344241|PMID:11503164|PMID:12057196|PMID:12075506|PMID:12376891|PMID:12467752|PMID:12524233|PMID:12669268|PMID:12702809|PMID:12788894|PMID:12920062|PMID:14510863|PMID:14597414|PMID:14627682|PMID:14684700|PMID:14749366|PMID:14985400|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15770669|PMID:15843404|PMID:15965218|PMID:15998779|PMID:16084085|PMID:16181372|PMID:16364671|PMID:16459536|PMID:16585054|PMID:16809772|PMID:17107595|PMID:17250669|PMID:17250699|PMID:17377071|PMID:17524034|PMID:17711925|PMID:17848409|PMID:18348272|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18585512|PMID:18604166|PMID:18714801|PMID:18795223|PMID:18796515|PMID:18926329|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19842191|PMID:19859838|PMID:19875404|PMID:20130076|PMID:20160190|PMID:20497714|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:21465660|PMID:21479595|PMID:21535365|PMID:21831885|PMID:21883346|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22177269|PMID:22199124|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:23062543|PMID:23183350|PMID:23299917|PMID:23349452|PMID:23427149|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24033266|PMID:24055113|PMID:24108105|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24721642|PMID:24794538|PMID:24861648|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25214167|PMID:2526018|PMID:25324471|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670|PMID:26027246|PMID:26467025|PMID:26498160|PMID:26602028|PMID:26662654|PMID:26724531|PMID:26756202|PMID:26976018|PMID:27000522|PMID:27153395|PMID:27332903|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27650965|PMID:27841901|PMID:27841971|PMID:27884249|PMID:27896052|PMID:27896284|PMID:28087566|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28701371|PMID:28751304|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28878402|PMID:29078011|PMID:29237675|PMID:29438482|PMID:29892087|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30137533|PMID:30402260|PMID:30420677|PMID:30488537|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31514951|PMID:31744510|PMID:32041611|PMID:32376792|PMID:32413188|PMID:32456328|PMID:32793522|PMID:32818388|PMID:32880476|PMID:33407844|PMID:33422685|PMID:33458588|PMID:34135346|PMID:34363016|PMID:34680903|PMID:34768595|PMID:8621584|PMID:9500556 8719462 Lmna lamin A/C gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732790 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11180602|PMID:11342468|PMID:11344241|PMID:11503164|PMID:12057196|PMID:12075506|PMID:12376891|PMID:12467752|PMID:12524233|PMID:12669268|PMID:12702809|PMID:12788894|PMID:12920062|PMID:14510863|PMID:14597414|PMID:14627682|PMID:14684700|PMID:14749366|PMID:14985400|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15770669|PMID:15843404|PMID:15965218|PMID:15998779|PMID:16084085|PMID:16181372|PMID:16364671|PMID:16459536|PMID:16585054|PMID:16809772|PMID:17107595|PMID:17250669|PMID:17250699|PMID:17377071|PMID:17524034|PMID:17576681|PMID:17711925|PMID:17848409|PMID:18348272|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18585512|PMID:18604166|PMID:18714801|PMID:18795223|PMID:18796515|PMID:18926329|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19842191|PMID:19859838|PMID:19875404|PMID:20130076|PMID:20160190|PMID:20497714|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:21479595|PMID:21535365|PMID:21831885|PMID:21883346|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22177269|PMID:22199124|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:23062543|PMID:23183350|PMID:23299917|PMID:23349452|PMID:23427149|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24033266|PMID:24055113|PMID:24108105|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24721642|PMID:24794538|PMID:24861648|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25214167|PMID:2526018|PMID:25324471|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670|PMID:26027246|PMID:26467025|PMID:26498160|PMID:26602028|PMID:26662654|PMID:26724531|PMID:26756202|PMID:26976018|PMID:27000522|PMID:27153395|PMID:27332903|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27650965|PMID:27841901|PMID:27841971|PMID:27884249|PMID:27896052|PMID:27896284|PMID:28087566|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28701371|PMID:28751304|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28878402|PMID:29078011|PMID:29237675|PMID:29438482|PMID:29892087|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30137533|PMID:30402260|PMID:30420677|PMID:30488537|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31514951|PMID:31744510|PMID:32041611|PMID:32376792|PMID:32413188|PMID:32456328|PMID:32793522|PMID:32818388|PMID:32880476|PMID:33407844|PMID:33422685|PMID:33458588|PMID:34135346|PMID:34363016|PMID:34680903|PMID:34768595|PMID:35526016|PMID:8621584|PMID:9500556|PMID:9536098 8719462 Lmna lamin A/C gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732790 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11180602|PMID:11342468|PMID:11344241|PMID:11503164|PMID:12057196|PMID:12075506|PMID:12376891|PMID:12467752|PMID:12524233|PMID:12669268|PMID:12702809|PMID:12788894|PMID:12920062|PMID:14510863|PMID:14597414|PMID:14627682|PMID:14684700|PMID:14749366|PMID:14985400|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15770669|PMID:15843404|PMID:15965218|PMID:15998779|PMID:16084085|PMID:16181372|PMID:16364671|PMID:16459536|PMID:16584978|PMID:16585054|PMID:16809772|PMID:17107595|PMID:17250669|PMID:17250699|PMID:17377071|PMID:17524034|PMID:17576681|PMID:17711925|PMID:17848409|PMID:18348272|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18585512|PMID:18604166|PMID:18714801|PMID:18795223|PMID:18796515|PMID:18808171|PMID:18926329|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19842191|PMID:19859838|PMID:19875404|PMID:20130076|PMID:20160190|PMID:20497714|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:21400569|PMID:21479595|PMID:21535365|PMID:21831885|PMID:21883346|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22177269|PMID:22199124|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22761994|PMID:23062543|PMID:23183350|PMID:23299917|PMID:23349452|PMID:23427149|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24033266|PMID:24055113|PMID:24108105|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24721642|PMID:24794538|PMID:24861648|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25210889|PMID:25214167|PMID:2526018|PMID:25324471|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670|PMID:26027246|PMID:26467025|PMID:26498160|PMID:26602028|PMID:26662654|PMID:26724531|PMID:26756202|PMID:26976018|PMID:27000522|PMID:27153395|PMID:27332903|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27650965|PMID:27841901|PMID:27841971|PMID:27884249|PMID:27896052|PMID:27896284|PMID:28087566|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28701371|PMID:28751304|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28878402|PMID:29078011|PMID:29237675|PMID:29438482|PMID:29892087|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30137533|PMID:30402260|PMID:30420677|PMID:30488537|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31303467|PMID:31383942|PMID:31428229|PMID:31447099|PMID:31514951|PMID:31744510|PMID:32041611|PMID:32376792|PMID:32413188|PMID:32456328|PMID:32698523|PMID:32793522|PMID:32818388|PMID:32880476|PMID:33407844|PMID:33422685|PMID:33458588|PMID:34135346|PMID:34240052|PMID:34363016|PMID:34680903|PMID:34768595|PMID:34975533|PMID:35526016|PMID:8621584|PMID:9500556|PMID:9536098 8719462 Lmna lamin A/C gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732790 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11180602|PMID:11342468|PMID:11344241|PMID:11503164|PMID:12057196|PMID:12075506|PMID:12376891|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12669268|PMID:12702809|PMID:12788894|PMID:12920062|PMID:14510863|PMID:14597414|PMID:14627682|PMID:14684700|PMID:14749366|PMID:14985400|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15770669|PMID:15843404|PMID:15965218|PMID:15998779|PMID:16084085|PMID:16181372|PMID:16364671|PMID:16459536|PMID:16584978|PMID:16585054|PMID:16809772|PMID:17107595|PMID:17250669|PMID:17250699|PMID:17334235|PMID:17377071|PMID:17524034|PMID:17576681|PMID:17711925|PMID:17848409|PMID:18348272|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18585512|PMID:18604166|PMID:18714801|PMID:18795223|PMID:18796515|PMID:18808171|PMID:18926329|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19842191|PMID:19859838|PMID:19875404|PMID:20130076|PMID:20160190|PMID:20497714|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:21400569|PMID:21479595|PMID:21535365|PMID:21831885|PMID:21883346|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22177269|PMID:22199124|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22761994|PMID:23062543|PMID:23183350|PMID:23299917|PMID:23349452|PMID:23427149|PMID:23702046|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24033266|PMID:24055113|PMID:24108105|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24721642|PMID:24794538|PMID:24861648|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25210889|PMID:25214167|PMID:2526018|PMID:25286833|PMID:25324471|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670|PMID:26027246|PMID:26467025|PMID:26498160|PMID:26602028|PMID:26662654|PMID:26724531|PMID:26756202|PMID:26976018|PMID:27000522|PMID:27153395|PMID:2733290|PMID:27332903|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27650965|PMID:27841901|PMID:27841971|PMID:27884249|PMID:27896052|PMID:27896284|PMID:28087566|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28701371|PMID:28751304|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28878402|PMID:29078011|PMID:29237675|PMID:29438482|PMID:29892087|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30137533|PMID:30402260|PMID:30420677|PMID:30488537|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31303467|PMID:31383942|PMID:31428229|PMID:31447099|PMID:31514951|PMID:31521807|PMID:31744510|PMID:32041611|PMID:32376792|PMID:32413188|PMID:32456328|PMID:32698523|PMID:32793522|PMID:32818388|PMID:32880476|PMID:33038109|PMID:33407844|PMID:33422685|PMID:33458588|PMID:34135346|PMID:34240052|PMID:34363016|PMID:34495297|PMID:34680903|PMID:34768595|PMID:34862408|PMID:34975533|PMID:35526016|PMID:8621584|PMID:9500556|PMID:9536098 8719462 Lmna lamin A/C gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732790 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11180602|PMID:11344241|PMID:11503164|PMID:12057196|PMID:12075506|PMID:12376891|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12669268|PMID:12702809|PMID:12788894|PMID:12920062|PMID:14510863|PMID:14597414|PMID:14627682|PMID:14684700|PMID:14749366|PMID:14985400|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15372542|PMID:15473259|PMID:15475483|PMID:15531479|PMID:15770669|PMID:15843404|PMID:15965218|PMID:15998779|PMID:16046620|PMID:16084085|PMID:16181372|PMID:16364671|PMID:16459536|PMID:16584978|PMID:16585054|PMID:16809772|PMID:17107595|PMID:17250669|PMID:17250699|PMID:17274801|PMID:17334235|PMID:17377071|PMID:17524034|PMID:17576681|PMID:17711925|PMID:17848409|PMID:18348272|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18585512|PMID:18604166|PMID:18714801|PMID:18795223|PMID:18796515|PMID:18808171|PMID:18926329|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19842191|PMID:19859838|PMID:19875404|PMID:20130076|PMID:20160190|PMID:20497714|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:21400569|PMID:21479595|PMID:21535365|PMID:21831885|PMID:21883346|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22177269|PMID:22199124|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22761994|PMID:23062543|PMID:23183350|PMID:23299917|PMID:23349452|PMID:23427149|PMID:23702046|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24033266|PMID:24055113|PMID:24108105|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24721642|PMID:24794538|PMID:24861648|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25286833|PMID:25324471|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670|PMID:26027246|PMID:26467025|PMID:26498160|PMID:26602028|PMID:26662654|PMID:26724531|PMID:26756202|PMID:26976018|PMID:27000522|PMID:27153395|PMID:2733290|PMID:27332903|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27650965|PMID:27841901|PMID:27841971|PMID:27884249|PMID:27896052|PMID:27896284|PMID:28087566|PMID:28349240|PMID:28416588|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28701371|PMID:28751304|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28878402|PMID:29078011|PMID:29237675|PMID:29438482|PMID:29892087|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30137533|PMID:30402260|PMID:30420677|PMID:30488537|PMID:30564623|PMID:30847666|PMID:30871747|PMID:31019283|PMID:31303467|PMID:31383942|PMID:31428229|PMID:31514951|PMID:31521807|PMID:31744510|PMID:32041611|PMID:32376792|PMID:32413188|PMID:32456328|PMID:32461654|PMID:32698523|PMID:32793522|PMID:32818388|PMID:32880476|PMID:33038109|PMID:33407844|PMID:33422685|PMID:33458588|PMID:34135346|PMID:34240052|PMID:34495297|PMID:34680903|PMID:34768595|PMID:34862408|PMID:34975533|PMID:8621584|PMID:9500556|PMID:9536098 8719462 Lmna lamin A/C gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732790 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11180602|PMID:11344241|PMID:11503164|PMID:12057196|PMID:12075506|PMID:12376891|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12669268|PMID:12702809|PMID:12788894|PMID:12920062|PMID:14510863|PMID:14597414|PMID:14627682|PMID:14684700|PMID:14749366|PMID:14985400|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15372542|PMID:15473259|PMID:15475483|PMID:15531479|PMID:15770669|PMID:15843404|PMID:15965218|PMID:15998779|PMID:16046620|PMID:16084085|PMID:16181372|PMID:16364671|PMID:16459536|PMID:16584978|PMID:16585054|PMID:16809772|PMID:17107595|PMID:17250669|PMID:17250699|PMID:17274801|PMID:17334235|PMID:17377071|PMID:17524034|PMID:17576681|PMID:17711925|PMID:17848409|PMID:18348272|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18585512|PMID:18604166|PMID:18714801|PMID:18795223|PMID:18796515|PMID:18808171|PMID:18926329|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19842191|PMID:19859838|PMID:19875404|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20497714|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:21400569|PMID:21462202|PMID:21479595|PMID:21535365|PMID:21831885|PMID:21883346|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22177269|PMID:22199124|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22761994|PMID:23062543|PMID:23183350|PMID:23299917|PMID:23349452|PMID:23427149|PMID:23702046|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24033266|PMID:24055113|PMID:24108105|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24721642|PMID:24794538|PMID:24861648|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25286833|PMID:25324471|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670|PMID:26027246|PMID:26467025|PMID:26498160|PMID:26602028|PMID:26662654|PMID:26724531|PMID:26756202|PMID:26976018|PMID:27000522|PMID:27153395|PMID:2733290|PMID:27332903|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27650965|PMID:27841901|PMID:27841971|PMID:27884249|PMID:27896052|PMID:27896284|PMID:28087566|PMID:28349240|PMID:28416588|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28701371|PMID:28751304|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28878402|PMID:29078011|PMID:29237675|PMID:29438482|PMID:29551499|PMID:29557732|PMID:29693488|PMID:29892087|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30137533|PMID:30287275|PMID:30420677|PMID:30488537|PMID:30564623|PMID:30847666|PMID:30871747|PMID:31019283|PMID:31303467|PMID:31383942|PMID:31428229|PMID:31514951|PMID:31521807|PMID:31744510|PMID:32041611|PMID:32376792|PMID:32413188|PMID:32456328|PMID:32461654|PMID:32698523|PMID:32793522|PMID:32818388|PMID:32880476|PMID:33038109|PMID:33407844|PMID:33422685|PMID:33458588|PMID:34135346|PMID:34240052|PMID:34461741|PMID:34495297|PMID:34680903|PMID:34768595|PMID:34862408|PMID:34975533|PMID:35470680|PMID:35898701|PMID:36293084|PMID:36397776|PMID:36971006|PMID:37904629|PMID:38247853|PMID:38489124|PMID:8621584|PMID:9500556|PMID:9536098 8719462 Lmna lamin A/C gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732790 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11180602|PMID:11344241|PMID:11503164|PMID:12057196|PMID:12075506|PMID:12376891|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12669268|PMID:12702809|PMID:12788894|PMID:12920062|PMID:14510863|PMID:14597414|PMID:14627682|PMID:14684700|PMID:14749366|PMID:14985400|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15372542|PMID:15473259|PMID:15475483|PMID:15531479|PMID:15770669|PMID:15843404|PMID:15965218|PMID:15998779|PMID:16046620|PMID:16084085|PMID:16181372|PMID:16364671|PMID:16459536|PMID:16584978|PMID:16585054|PMID:16809772|PMID:17107595|PMID:17250669|PMID:17250699|PMID:17274801|PMID:17334235|PMID:17377071|PMID:17524034|PMID:17576681|PMID:17711925|PMID:17848409|PMID:18348272|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18585512|PMID:18604166|PMID:18714801|PMID:18795223|PMID:18796515|PMID:18808171|PMID:18926329|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19842191|PMID:19859838|PMID:19875404|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20497714|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:21400569|PMID:21462202|PMID:21465660|PMID:21479595|PMID:21535365|PMID:21831885|PMID:21883346|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22177269|PMID:22199124|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22761994|PMID:23062543|PMID:23183350|PMID:23299917|PMID:23349452|PMID:23427149|PMID:23702046|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24033266|PMID:24055113|PMID:24108105|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24721642|PMID:24794538|PMID:24861648|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25286833|PMID:25324471|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670|PMID:26027246|PMID:26467025|PMID:26498160|PMID:26602028|PMID:26662654|PMID:26724531|PMID:26756202|PMID:26976018|PMID:27000522|PMID:27153395|PMID:2733290|PMID:27332903|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27650965|PMID:27841901|PMID:27841971|PMID:27884249|PMID:27896052|PMID:27896284|PMID:28087566|PMID:28349240|PMID:28416588|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28701371|PMID:28751304|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28878402|PMID:29078011|PMID:29237675|PMID:29438482|PMID:29551499|PMID:29557732|PMID:29693488|PMID:29892087|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30137533|PMID:30287275|PMID:30420677|PMID:30488537|PMID:30564623|PMID:30615648|PMID:30847666|PMID:30871747|PMID:31019283|PMID:31303467|PMID:31383942|PMID:31428229|PMID:31514951|PMID:31521807|PMID:31744510|PMID:32041611|PMID:32376792|PMID:32413188|PMID:32456328|PMID:32461654|PMID:32698523|PMID:32793522|PMID:32818388|PMID:32880476|PMID:33038109|PMID:33407844|PMID:33422685|PMID:33458588|PMID:34135346|PMID:34240052|PMID:34461741|PMID:34495297|PMID:34680903|PMID:34768595|PMID:34862408|PMID:34975533|PMID:35470680|PMID:35898701|PMID:36293084|PMID:36397776|PMID:36971006|PMID:37904629|PMID:38247853|PMID:38374194|PMID:38489124|PMID:8621584|PMID:9500556|PMID:9536098 8719462 Lmna lamin A/C gene DOID:10754 otitis media ISO RGD:732791 D RGD:9068941 20220825 MouseDO OMIM:166760 8719462 Lmna lamin A/C gene DOID:11612 polycystic ovary syndrome ISO RGD:732790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8719462 Lmna lamin A/C gene DOID:11712 lipoatrophic diabetes mellitus ISO RGD:732790 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Familial partial lipodystrophy 2 PMID:10080180|PMID:10580070|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11792809|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12075506|PMID:12196663|PMID:12376891|PMID:12467734|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12702809|PMID:12716787|PMID:12784312|PMID:12788894|PMID:12920062|PMID:12927424|PMID:12927431|PMID:12938084|PMID:13129702|PMID:14510863|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14684700|PMID:14749366|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15372542|PMID:15473259|PMID:15475483|PMID:15531479|PMID:15678000|PMID:15744034|PMID:15770669|PMID:15843404|PMID:15965218|PMID:15998779|PMID:16046620|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16459536|PMID:16584978|PMID:16585054|PMID:16671095|PMID:16705075|PMID:16715312|PMID:16809772|PMID:17107595|PMID:17136397|PMID:17250669|PMID:17250699|PMID:17274801|PMID:17325275|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17524034|PMID:17536044|PMID:17556535|PMID:17576681|PMID:17612587|PMID:17711925|PMID:17760566|PMID:17848409|PMID:17893350|PMID:17987279|PMID:18035086|PMID:18041775|PMID:18348272|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551513|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18728124|PMID:18795223|PMID:18808171|PMID:18926329|PMID:19011997|PMID:19084400|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19446900|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19875478|PMID:19933576|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20376791|PMID:20497714|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21346069|PMID:21400569|PMID:21465660|PMID:21479595|PMID:21520333|PMID:21632249|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21883346|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22068161|PMID:22071332|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22355414|PMID:22431096|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22700598|PMID:22761994|PMID:22883396|PMID:22918509|PMID:23062543|PMID:23142632|PMID:23183350|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23702046|PMID:23783098|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24375749|PMID:24459210|PMID:24503780|PMID:24623722|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24846508|PMID:24861648|PMID:24915601|PMID:24943589|PMID:24990833|PMID:25025039|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25819867|PMID:25823658|PMID:25873806|PMID:25885670|PMID:26027246|PMID:26084686|PMID:26098624|PMID:26165385|PMID:26183555|PMID:26220970|PMID:262236|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26392352|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26498160|PMID:26573435|PMID:26602028|PMID:26662654|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26743238|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26900797|PMID:26976018|PMID:27000522|PMID:27100822|PMID:27153395|PMID:27182706|PMID:27220833|PMID:2733290|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27498076|PMID:27504462|PMID:27506821|PMID:27529282 8719462 Lmna lamin A/C gene DOID:11712 lipoatrophic diabetes mellitus ISO RGD:732790 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Familial partial lipodystrophy 2 PMID:2753225|PMID:27532257|PMID:27585670|PMID:27600705|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27845687|PMID:27884249|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28074886|PMID:28082330|PMID:28087566|PMID:28255936|PMID:28341588|PMID:28349240|PMID:28416588|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28874324|PMID:28878402|PMID:29078011|PMID:29095976|PMID:29121657|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29253866|PMID:29255176|PMID:29431110|PMID:29438482|PMID:29540472|PMID:29551499|PMID:29557732|PMID:29620724|PMID:29693488|PMID:29709087|PMID:29773157|PMID:29791652|PMID:29892087|PMID:29895224|PMID:29943882|PMID:29952368|PMID:29961767|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30055862|PMID:30122538|PMID:30137533|PMID:30165155|PMID:30165862|PMID:30177912|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30429050|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30595509|PMID:30615648|PMID:30665423|PMID:30739589|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30919684|PMID:31019283|PMID:31194872|PMID:31303467|PMID:31383942|PMID:31428229|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31521807|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31931689|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32193531|PMID:32376792|PMID:32413188|PMID:32455078|PMID:32456328|PMID:32461654|PMID:32475984|PMID:32508047|PMID:32571898|PMID:32616434|PMID:32685188|PMID:32698523|PMID:32727917|PMID:32746448|PMID:32792077|PMID:32793522|PMID:32818388|PMID:32826072|PMID:32880476|PMID:33038109|PMID:33258288|PMID:33304817|PMID:33407844|PMID:33422685|PMID:33458588|PMID:33500567|PMID:33502018|PMID:33673806|PMID:33713793|PMID:33803191|PMID:33803652|PMID:33887581|PMID:33893211|PMID:33916827|PMID:33963534|PMID:34011823|PMID:34135346|PMID:34240052|PMID:34292171|PMID:34340952|PMID:34363016|PMID:34495297|PMID:34680903|PMID:34720847|PMID:34768595|PMID:34788595|PMID:34808346|PMID:34862408|PMID:34865644|PMID:34935411|PMID:34975533|PMID:34999423|PMID:35026164|PMID:35291351|PMID:35449878|PMID:35526016|PMID:35528128|PMID:35533453|PMID:35535697|PMID:35772917|PMID:35898701|PMID:36264615|PMID:36267857|PMID:36293084|PMID:36397776|PMID:36646731|PMID:36704457|PMID:36788754|PMID:36971006|PMID:37246508|PMID:37589201|PMID:37652022|PMID:37679847|PMID:37685926|PMID:37904629|PMID:38247853|PMID:38254962|PMID:38473809|PMID:38489124|PMID:38630155|PMID:38691546|PMID:39825153|PMID:4740717|PMID:8619549|PMID:9106535|PMID:9500556|PMID:9536098 8719462 Lmna lamin A/C gene DOID:11724 limb-girdle muscular dystrophy ISO RGD:732790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10814726|PMID:12032588|PMID:30055862 8719462 Lmna lamin A/C gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:732790 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10080180|PMID:10580070|PMID:10655060|PMID:10662742|PMID:10739764|PMID:10814726|PMID:10939567|PMID:11138304|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11901143|PMID:12032588|PMID:12057196|PMID:12196663|PMID:12376891|PMID:12467752|PMID:12628721|PMID:12629077|PMID:12649505|PMID:12673789|PMID:12748643|PMID:12920062|PMID:12927431|PMID:14597414|PMID:14615128|PMID:14659775|PMID:14684700|PMID:14749366|PMID:15053843|PMID:15140538|PMID:15148145|PMID:15372542|PMID:15475483|PMID:15668447|PMID:15744034|PMID:15998779|PMID:16174718|PMID:16218190|PMID:16386954|PMID:16440304|PMID:16772334|PMID:17107595|PMID:17136397|PMID:17274801|PMID:17377071|PMID:17576681|PMID:18035086|PMID:1839274|PMID:18396274|PMID:18414213|PMID:1849984|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18606848|PMID:18646565|PMID:18795223|PMID:18926329|PMID:19084400|PMID:19318026|PMID:19424285|PMID:19427440|PMID:19524666|PMID:19589617|PMID:19638735|PMID:19680556|PMID:19882644|PMID:19933576|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20498703|PMID:20848652|PMID:20886652|PMID:20980393|PMID:21173262|PMID:21315846|PMID:21535365|PMID:21632249|PMID:21840938|PMID:22224630|PMID:22266370|PMID:22326558|PMID:22431096|PMID:22464770|PMID:2280636|PMID:22883396|PMID:22918509|PMID:23183350|PMID:23328570|PMID:23349452|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23582089|PMID:23631840|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24033266|PMID:24055113|PMID:24375749|PMID:24503780|PMID:24508248|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24806962|PMID:24846508|PMID:24990833|PMID:25214167|PMID:25326637|PMID:25448463|PMID:25637381|PMID:25741868|PMID:25948554|PMID:25987458|PMID:26098624|PMID:26183555|PMID:26332594|PMID:26443318|PMID:26467025|PMID:26602028|PMID:26752647|PMID:27220833|PMID:27374873|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27717888|PMID:27723096|PMID:27813223|PMID:27854218|PMID:27896052|PMID:27919367|PMID:28074886|PMID:28255936|PMID:28492532|PMID:28531892|PMID:28600387|PMID:28663758|PMID:28679633|PMID:28785654|PMID:29040816|PMID:29057633|PMID:29149195|PMID:29237675|PMID:29791652|PMID:30055862|PMID:30165862|PMID:30528549|PMID:30847666|PMID:30871747|PMID:31303467|PMID:31383942|PMID:31829210|PMID:31857427|PMID:32041611|PMID:32376792|PMID:32571898|PMID:32793522|PMID:34008892|PMID:8619549|PMID:9106535|PMID:9536098 8719462 Lmna lamin A/C gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:732790 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10080180|PMID:10580070|PMID:10587585|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11136544|PMID:11138304|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11901143|PMID:12032588|PMID:12057196|PMID:12196663|PMID:12376891|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12673789|PMID:12748643|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14597414|PMID:14615128|PMID:14659775|PMID:14684700|PMID:14749366|PMID:15053843|PMID:15140538|PMID:15148145|PMID:15372542|PMID:15475483|PMID:15668447|PMID:15744034|PMID:15843404|PMID:15998779|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16364671|PMID:16386954|PMID:16415042|PMID:16440304|PMID:16772334|PMID:17107595|PMID:17136397|PMID:17274801|PMID:17377071|PMID:17576681|PMID:17893350|PMID:18035086|PMID:1839274|PMID:18396274|PMID:18414213|PMID:1849984|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18606848|PMID:18646565|PMID:18728124|PMID:18795223|PMID:18926329|PMID:19011997|PMID:19084400|PMID:19201734|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19524666|PMID:19589617|PMID:19638735|PMID:19680556|PMID:19859838|PMID:19882644|PMID:19933576|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20498703|PMID:20530761|PMID:20625965|PMID:20848652|PMID:20886652|PMID:20980393|PMID:21173262|PMID:21315846|PMID:21535365|PMID:21632249|PMID:21840938|PMID:21846512|PMID:22224630|PMID:22266370|PMID:22326558|PMID:22431096|PMID:22464770|PMID:22700598|PMID:2280636|PMID:22806367|PMID:22883396|PMID:22918509|PMID:23142632|PMID:23183350|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23582089|PMID:23631840|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24033266|PMID:24055113|PMID:24237251|PMID:24375749|PMID:24503780|PMID:24508248|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24806962|PMID:24846508|PMID:24990833|PMID:25214167|PMID:25326637|PMID:25448463|PMID:25637381|PMID:25741868|PMID:25948554|PMID:25987458|PMID:26098624|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26443318|PMID:26467025|PMID:26602028|PMID:26662654|PMID:26688388|PMID:26752647|PMID:27220833|PMID:27332903|PMID:27374873|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27717888|PMID:27723096|PMID:27813223|PMID:27854218|PMID:27884249|PMID:27896052|PMID:27919367|PMID:28074886|PMID:28255936|PMID:28492532|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28785654|PMID:28790152|PMID:29040816|PMID:29057633|PMID:29149195|PMID:29237675|PMID:29693488|PMID:29791652|PMID:29895224|PMID:30055862|PMID:30165862|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30420677|PMID:30528549|PMID:30564623|PMID:30847666|PMID:30871747|PMID:31194872|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31980526|PMID:32041611|PMID:32376792|PMID:32571898|PMID:32727917|PMID:32793522|PMID:32880476|PMID:34008892|PMID:34999423|PMID:8619549|PMID:9106535|PMID:9536098 8719462 Lmna lamin A/C gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:732790 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:10080180|PMID:10580070|PMID:10587585|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11138304|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11897440|PMID:11901143|PMID:12015247|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12376891|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12748643|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14597414|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14684700|PMID:14749366|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15148145|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15476822|PMID:15531479|PMID:15668447|PMID:15744034|PMID:15770669|PMID:15843404|PMID:15998779|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16364671|PMID:16386954|PMID:16415042|PMID:16440304|PMID:16459536|PMID:16585054|PMID:16671095|PMID:16715312|PMID:16772334|PMID:17107595|PMID:17136397|PMID:17274801|PMID:17377071|PMID:17524034|PMID:17576681|PMID:17711925|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18035086|PMID:18182166|PMID:18396274|PMID:18414213|PMID:18478590|PMID:1849984|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18728124|PMID:18795223|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19084400|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19859838|PMID:19875404|PMID:19882644|PMID:19933576|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20376791|PMID:20497714|PMID:20498703|PMID:20530761|PMID:20625965|PMID:20848652|PMID:20886652|PMID:20980393|PMID:21173262|PMID:21315846|PMID:21479595|PMID:21520333|PMID:21535365|PMID:21632249|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22431096|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22700598|PMID:22806367|PMID:22883396|PMID:22918509|PMID:23077635|PMID:23142632|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23783098|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24237251|PMID:24349489|PMID:24375749|PMID:24503780|PMID:24508248|PMID:24623722|PMID:24642510|PMID:24656463|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24806962|PMID:24846508|PMID:24990833|PMID:25025039|PMID:25210889|PMID:25214167|PMID:2526018|PMID:25286833|PMID:25324471|PMID:25326637|PMID:25343322|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25948554|PMID:25982065|PMID:25987458|PMID:26027246|PMID:26084686|PMID:26098624|PMID:26165385|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26392352|PMID:26443318|PMID:26467025|PMID:26498160|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27153395|PMID:27220833|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27650965|PMID:27717888|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28074886|PMID:28087566|PMID:28255936|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28701371|PMID:28751304 8719462 Lmna lamin A/C gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:732790 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:28785654|PMID:28790152|PMID:28807990|PMID:28878402|PMID:29040816|PMID:29057633|PMID:29149195|PMID:29237675|PMID:29438482|PMID:29620724|PMID:29676528|PMID:29693488|PMID:29753763|PMID:29791652|PMID:29892087|PMID:29893365|PMID:29895224|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30055862|PMID:30083363|PMID:30165862|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30420677|PMID:30528549|PMID:30564623|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31303467|PMID:31383942|PMID:31434876|PMID:31447099|PMID:31476771|PMID:31498906|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32376792|PMID:32528171|PMID:32571898|PMID:32727917|PMID:32793522|PMID:32818388|PMID:32880476|PMID:33250842|PMID:33407844|PMID:33502018|PMID:33963534|PMID:34008892|PMID:34240052|PMID:34768595|PMID:34862408|PMID:34999423|PMID:8619549|PMID:9106535|PMID:9500556|PMID:9536098 8719462 Lmna lamin A/C gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:732790 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:28701371|PMID:28751304|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28878402|PMID:29040816|PMID:29057633|PMID:29149195|PMID:29237675|PMID:29438482|PMID:29620724|PMID:29676528|PMID:29693488|PMID:29753763|PMID:29791652|PMID:29892087|PMID:29893365|PMID:29895224|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30055862|PMID:30083363|PMID:30137533|PMID:30165862|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30420677|PMID:30528549|PMID:30564623|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31303467|PMID:31383942|PMID:31434876|PMID:31447099|PMID:31476771|PMID:31498906|PMID:31514951|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32376792|PMID:32455078|PMID:32475984|PMID:32528171|PMID:32571898|PMID:32727917|PMID:32793522|PMID:32818388|PMID:32880476|PMID:33250842|PMID:33407844|PMID:33502018|PMID:33963534|PMID:34008892|PMID:34240052|PMID:34768595|PMID:34862408|PMID:34999423|PMID:8619549|PMID:9106535|PMID:9500556|PMID:9536098 8719462 Lmna lamin A/C gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:732790 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10080180|PMID:10580070|PMID:10587585|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11138304|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11897440|PMID:11901143|PMID:12015247|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12376891|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12748643|PMID:12784312|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14597414|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14684700|PMID:14749366|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15148145|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15668447|PMID:15744034|PMID:15770669|PMID:15843404|PMID:15998779|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16364671|PMID:16386954|PMID:16415042|PMID:16440304|PMID:16459536|PMID:16585054|PMID:16671095|PMID:16715312|PMID:16772334|PMID:17107595|PMID:17136397|PMID:17274801|PMID:17377071|PMID:17524034|PMID:17576681|PMID:17711925|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18035086|PMID:18182166|PMID:18396274|PMID:18414213|PMID:18478590|PMID:1849984|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18728124|PMID:18795223|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19084400|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19859838|PMID:19875404|PMID:19882644|PMID:19933576|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20376791|PMID:20497714|PMID:20498703|PMID:20530761|PMID:20625965|PMID:20848652|PMID:20886652|PMID:20980393|PMID:21173262|PMID:21315846|PMID:21479595|PMID:21520333|PMID:21535365|PMID:21632249|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22431096|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22700598|PMID:22806367|PMID:22883396|PMID:22918509|PMID:23077635|PMID:23142632|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23783098|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24237251|PMID:24349489|PMID:24375749|PMID:24503780|PMID:24508248|PMID:24623722|PMID:24642510|PMID:24656463|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24806962|PMID:24846508|PMID:24990833|PMID:25025039|PMID:25210889|PMID:25214167|PMID:2526018|PMID:25286833|PMID:25324471|PMID:25326637|PMID:25343322|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25948554|PMID:25982065|PMID:25987458|PMID:26027246|PMID:26084686|PMID:26098624|PMID:26165385|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26392352|PMID:26443318|PMID:26467025|PMID:26498160|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27100822|PMID:27153395|PMID:27220833|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27650965|PMID:27717888|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28074886|PMID:28087566|PMID:28255936|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28701371 8719462 Lmna lamin A/C gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:732790 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:28751304|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28878402|PMID:29040816|PMID:29057633|PMID:29149195|PMID:29237675|PMID:29438482|PMID:29620724|PMID:29676528|PMID:29693488|PMID:29753763|PMID:29791652|PMID:29892087|PMID:29893365|PMID:29895224|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30055862|PMID:30137533|PMID:30165862|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30420677|PMID:30528549|PMID:30564623|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31303467|PMID:31383942|PMID:31434876|PMID:31447099|PMID:31476771|PMID:31498906|PMID:31514951|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32376792|PMID:32455078|PMID:32475984|PMID:32571898|PMID:32727917|PMID:32793522|PMID:32818388|PMID:32880476|PMID:33407844|PMID:33502018|PMID:33963534|PMID:34008892|PMID:34495297|PMID:34768595|PMID:34999423|PMID:35026164|PMID:35449878|PMID:8619549|PMID:9106535|PMID:9500556|PMID:9536098 8719462 Lmna lamin A/C gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:732790 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:28074886|PMID:28082330|PMID:28087566|PMID:28255936|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28878402|PMID:29040816|PMID:29057633|PMID:29149195|PMID:29237675|PMID:29253866|PMID:29255176|PMID:29438482|PMID:29557732|PMID:29620724|PMID:29676528|PMID:29693488|PMID:29753763|PMID:29773157|PMID:29791652|PMID:29892087|PMID:29893365|PMID:29895224|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30055862|PMID:30137533|PMID:30165155|PMID:30165862|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30429050|PMID:30528549|PMID:30564623|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31038196|PMID:31194872|PMID:31303467|PMID:31383942|PMID:31428229|PMID:31434876|PMID:31447099|PMID:31476771|PMID:31498906|PMID:31514951|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32193531|PMID:32376792|PMID:32455078|PMID:32475984|PMID:32571898|PMID:32616434|PMID:32685188|PMID:32698523|PMID:32727917|PMID:32793522|PMID:32818388|PMID:32880476|PMID:33407844|PMID:33502018|PMID:33713793|PMID:33803191|PMID:33803652|PMID:33963534|PMID:34008892|PMID:34240052|PMID:34340952|PMID:34495297|PMID:34768595|PMID:34788595|PMID:34808346|PMID:34862408|PMID:34865644|PMID:34935411|PMID:34999423|PMID:35026164|PMID:35291351|PMID:35449878|PMID:35772917|PMID:36267857|PMID:36397776|PMID:36646731|PMID:37246508|PMID:37679847|PMID:8619549|PMID:9106535|PMID:9500556|PMID:9536098 8719462 Lmna lamin A/C gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:732790 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10080180|PMID:10580070|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11897440|PMID:12032588|PMID:12376891|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12784312|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14597414|PMID:14615128|PMID:14659775|PMID:14684700|PMID:14749366|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15148145|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15744034|PMID:15770669|PMID:15843404|PMID:15998779|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16364671|PMID:16386954|PMID:16415042|PMID:16440304|PMID:16459536|PMID:16584978|PMID:16585054|PMID:16671095|PMID:16715312|PMID:17107595|PMID:17136397|PMID:17274801|PMID:17334235|PMID:17377071|PMID:17524034|PMID:17576681|PMID:17711925|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18035086|PMID:18182166|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18606848|PMID:18646565|PMID:18728124|PMID:18795223|PMID:18808171|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19859838|PMID:19875404|PMID:19882644|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20530761|PMID:20625965|PMID:20848652|PMID:20980393|PMID:21173262|PMID:21315846|PMID:21400569|PMID:21479595|PMID:21520333|PMID:21632249|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22431096|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22700598|PMID:22761994|PMID:22806367|PMID:22883396|PMID:22918509|PMID:23142632|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23582089|PMID:23631840|PMID:23702046|PMID:23783098|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24237251|PMID:24375749|PMID:24503780|PMID:24508248|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24846508|PMID:24990833|PMID:25025039|PMID:25210889|PMID:25214167|PMID:2526018|PMID:25343322|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25741916|PMID:25873806|PMID:25885670|PMID:25948554|PMID:25987458|PMID:26027246|PMID:26084686|PMID:26183555|PMID:26220970|PMID:262236|PMID:26332594|PMID:26383259|PMID:26392352|PMID:26443318|PMID:26467025|PMID:26498160|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27100822|PMID:27153395|PMID:27220833|PMID:2733290|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27498076|PMID:27504462|PMID:27506821|PMID:27529282|PMID:2753225|PMID:27532257|PMID:27585670|PMID:27650965|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28074886|PMID:28082330|PMID:28087566|PMID:28255936|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28878402|PMID:29040816|PMID:29057633|PMID:29149195|PMID:29237675|PMID:29253866|PMID:29255176|PMID:29438482|PMID:29557732|PMID:29620724|PMID:29693488|PMID:29773157|PMID:29791652|PMID:29892087|PMID:29895224|PMID:29943882|PMID:29952368 8719462 Lmna lamin A/C gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:732790 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:30007954|PMID:30012837|PMID:30055862|PMID:30137533|PMID:30165155|PMID:30165862|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30429050|PMID:30528549|PMID:30564623|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31303467|PMID:31383942|PMID:31428229|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32193531|PMID:32376792|PMID:32455078|PMID:32475984|PMID:32571898|PMID:32616434|PMID:32685188|PMID:32698523|PMID:32727917|PMID:32793522|PMID:32818388|PMID:32880476|PMID:33407844|PMID:33502018|PMID:33713793|PMID:33803191|PMID:33803652|PMID:33963534|PMID:34008892|PMID:34240052|PMID:34340952|PMID:34495297|PMID:34768595|PMID:34788595|PMID:34808346|PMID:34862408|PMID:34865644|PMID:34935411|PMID:34999423|PMID:35026164|PMID:35291351|PMID:35449878|PMID:35772917|PMID:36267857|PMID:36397776|PMID:36646731|PMID:37246508|PMID:37679847|PMID:8619549|PMID:9106535|PMID:9500556|PMID:9536098 8719462 Lmna lamin A/C gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:732790 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10080180|PMID:10580070|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12075506|PMID:12196663|PMID:12376891|PMID:12467734|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12702809|PMID:12716787|PMID:12784312|PMID:12788894|PMID:12920062|PMID:12927424|PMID:12927431|PMID:12938084|PMID:13129702|PMID:14510863|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14684700|PMID:14749366|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15148145|PMID:15298354|PMID:15372542|PMID:15473259|PMID:15475483|PMID:15531479|PMID:15678000|PMID:15744034|PMID:15770669|PMID:15843404|PMID:15965218|PMID:15998779|PMID:16046620|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16440304|PMID:16459536|PMID:16584978|PMID:16585054|PMID:16671095|PMID:16705075|PMID:16715312|PMID:16809772|PMID:16990647|PMID:17107595|PMID:17136397|PMID:17250669|PMID:17250699|PMID:17274801|PMID:17325275|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17612587|PMID:17711925|PMID:17760566|PMID:17848409|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18035086|PMID:18348272|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18728124|PMID:18795223|PMID:18808171|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19084400|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19446900|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19875478|PMID:19882644|PMID:19933576|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20530761|PMID:20576434|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21173262|PMID:21315846|PMID:21400569|PMID:21465660|PMID:21479595|PMID:21483645|PMID:21520333|PMID:21632249|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22068161|PMID:22071332|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22355414|PMID:22431096|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22700598|PMID:22761994|PMID:22806367|PMID:22883396|PMID:22918509|PMID:23062543|PMID:23142632|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23702046|PMID:23783098|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24237251|PMID:24375749|PMID:24459210|PMID:24503780|PMID:24508248|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24846508|PMID:24861648|PMID:24915601|PMID:24943589|PMID:24990833|PMID:25025039|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25343322|PMID:25351510|PMID:25371241|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25948554|PMID:25987458|PMID:26027246|PMID:26084686|PMID:26098624|PMID:26183555|PMID:26220970|PMID:262236|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26392352|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26498160|PMID:26573435|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26743238|PMID:26752647|PMID:26756202 8719462 Lmna lamin A/C gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:732790 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:26899768|PMID:26900797|PMID:26976018|PMID:27000522|PMID:27100822|PMID:27153395|PMID:27182706|PMID:27220833|PMID:2733290|PMID:27332903|PMID:27363342|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27498076|PMID:27504462|PMID:27506821|PMID:27529282|PMID:2753225|PMID:27532257|PMID:27585670|PMID:27600705|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27845687|PMID:27854218|PMID:27884249|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28074886|PMID:28082330|PMID:28087566|PMID:28255936|PMID:28341588|PMID:28349240|PMID:28416588|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28874324|PMID:28878402|PMID:29040816|PMID:29057633|PMID:29095976|PMID:29121657|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29253866|PMID:29255176|PMID:29431110|PMID:29438482|PMID:29540472|PMID:29551499|PMID:29557732|PMID:29620724|PMID:29693488|PMID:29709087|PMID:29773157|PMID:29791652|PMID:29892087|PMID:29895224|PMID:29943882|PMID:29952368|PMID:29961767|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30055862|PMID:30107846|PMID:30122538|PMID:30137533|PMID:30165155|PMID:30165862|PMID:30177912|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30429050|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30595509|PMID:30615648|PMID:30665423|PMID:30739589|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30919684|PMID:31019283|PMID:31127727|PMID:31194872|PMID:31303467|PMID:31383942|PMID:31410651|PMID:31428229|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31521807|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31931689|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32193531|PMID:32376792|PMID:32413188|PMID:32455078|PMID:32456328|PMID:32461654|PMID:32475984|PMID:32508047|PMID:32571898|PMID:32616434|PMID:32685188|PMID:32698523|PMID:32727917|PMID:32746448|PMID:32792077|PMID:32793522|PMID:32818388|PMID:32826072|PMID:32880476|PMID:33038109|PMID:33070394|PMID:33258288|PMID:33304817|PMID:33407844|PMID:33422685|PMID:33458588|PMID:33500567|PMID:33502018|PMID:33673806|PMID:33713793|PMID:33803191|PMID:33803652|PMID:33824984|PMID:33887581|PMID:33893211|PMID:33916827|PMID:33963534|PMID:34008892|PMID:34011823|PMID:34135346|PMID:34240052|PMID:34340952|PMID:34363016|PMID:34495297|PMID:34680903|PMID:34720847|PMID:34768595|PMID:34788595|PMID:34808346|PMID:34862408|PMID:34865644|PMID:34935411|PMID:34954454|PMID:34975533|PMID:34999423|PMID:35026164|PMID:35239206|PMID:35291351|PMID:35387801|PMID:35434999|PMID:35449878|PMID:35526016|PMID:35533453|PMID:35535697|PMID:35772917|PMID:35898701|PMID:36253810|PMID:36264615|PMID:36267857|PMID:36293084|PMID:36352512|PMID:36397776|PMID:36646731|PMID:36704457|PMID:36788754|PMID:36971006|PMID:37246508|PMID:37589201|PMID:37652022|PMID:37679847|PMID:37685926|PMID:37904629|PMID:38048861|PMID:38247853|PMID:38254962|PMID:38473809|PMID:38489124|PMID:38630155|PMID:38691546|PMID:4740717|PMID:8619549|PMID:9106535|PMID:9500556|PMID:9536098 8719462 Lmna lamin A/C gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:732790 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23183350|PMID:23328570|PMID:2338570|PMID:24033266|PMID:24503780|PMID:24768879|PMID:25741868|PMID:26183555|PMID:26220970|PMID:26467025|PMID:26752647|PMID:2753225|PMID:27532257|PMID:27813223|PMID:28492532|PMID:28531892|PMID:28663758|PMID:28790152|PMID:29255176|PMID:29693488|PMID:30326651|PMID:30402260|PMID:30564623|PMID:31383942|PMID:31476771|PMID:31744510|PMID:32041611|PMID:32880476|PMID:33500567|PMID:33893211|PMID:34862408|PMID:34935411|PMID:37652022 8719462 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10080180|PMID:10580070|PMID:10612827|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10814726|PMID:10908904|PMID:10939567|PMID:11102526|PMID:11102973|PMID:11138304|PMID:11180602|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12075506|PMID:12196663|PMID:12628721|PMID:12649505|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12768443|PMID:12783988|PMID:12920062|PMID:14627682|PMID:14675861|PMID:14684700|PMID:14749366|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15184648|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16061563|PMID:16126733|PMID:16156025|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16386954|PMID:16407522|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16772334|PMID:16809772|PMID:16965317|PMID:16990647|PMID:17076270|PMID:17250669|PMID:17250699|PMID:17334235|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17536044|PMID:17599607|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18182166|PMID:18337098|PMID:1839274|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18795223|PMID:18816602|PMID:18926329|PMID:19084400|PMID:19167105|PMID:19172989|PMID:19318026|PMID:19328042|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19524666|PMID:19589617|PMID:19638735|PMID:19680556|PMID:19842191|PMID:19875404|PMID:19882644|PMID:19933576|PMID:20155465|PMID:20160190|PMID:20307303|PMID:20497714|PMID:20576434|PMID:20580717|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21251803|PMID:21315846|PMID:21483645|PMID:21632249|PMID:21689390|PMID:21738662|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21980471|PMID:22071332|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22611635|PMID:22685055|PMID:2280636|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23062543|PMID:23077635|PMID:23141186|PMID:23142632|PMID:23183350|PMID:23299917|PMID:23349452|PMID:23360689|PMID:23362510|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23701190|PMID:23702046|PMID:23804595|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:24001739|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24237251|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24846508|PMID:24915601|PMID:25025039|PMID:25214167|PMID:2526018|PMID:25286833|PMID:25324471|PMID:25351510|PMID:25448463|PMID:25469153|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:26084686|PMID:26332594|PMID:26383716|PMID:26404900|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26602028|PMID:26670336|PMID:26899768|PMID:27000522|PMID:27153395|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27707468|PMID:27723096|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28600387|PMID:28663758|PMID:28679633|PMID:28701371|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:29057633|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29367541|PMID:29382405|PMID:29432544|PMID:29497013|PMID:29676528|PMID:29693488|PMID:29753763|PMID:29791652|PMID:29893365|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837 8719462 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:30165862|PMID:30287275|PMID:30402260|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:32004434|PMID:32155092|PMID:32160020|PMID:32297714|PMID:32376792|PMID:32880476|PMID:32943904|PMID:33673806|PMID:34213952|PMID:8621584 8719462 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10080180|PMID:10580070|PMID:10612827|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10814726|PMID:10908904|PMID:10939567|PMID:11102526|PMID:11102973|PMID:11138304|PMID:11180602|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12196663|PMID:12628721|PMID:12649505|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12768443|PMID:12783988|PMID:12920062|PMID:14675861|PMID:14684700|PMID:14749366|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15184648|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16061563|PMID:16126733|PMID:16156025|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16386954|PMID:16407522|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16809772|PMID:16965317|PMID:16990647|PMID:17076270|PMID:17250669|PMID:17250699|PMID:17334235|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17536044|PMID:17599607|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18182166|PMID:18337098|PMID:1839274|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18795223|PMID:18816602|PMID:18926329|PMID:19084400|PMID:19167105|PMID:19172989|PMID:19318026|PMID:19328042|PMID:19424285|PMID:19427440|PMID:19524666|PMID:19589617|PMID:19638735|PMID:19680556|PMID:19842191|PMID:19875404|PMID:19882644|PMID:19933576|PMID:20155465|PMID:20160190|PMID:20497714|PMID:20576434|PMID:20580717|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21251803|PMID:21315846|PMID:21483645|PMID:21632249|PMID:21689390|PMID:21738662|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21980471|PMID:22071332|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22611635|PMID:22685055|PMID:2280636|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23062543|PMID:23141186|PMID:23142632|PMID:23183350|PMID:23299917|PMID:23349452|PMID:23360689|PMID:23362510|PMID:23427149|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23701190|PMID:23702046|PMID:23804595|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:24001739|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24846508|PMID:24915601|PMID:25025039|PMID:25214167|PMID:2526018|PMID:25351510|PMID:25448463|PMID:25469153|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25637381|PMID:25741868|PMID:25873806|PMID:25946677|PMID:25948554|PMID:25987458|PMID:25988045|PMID:26084686|PMID:26332594|PMID:26383716|PMID:26404900|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26602028|PMID:26670336|PMID:26899768|PMID:27000522|PMID:27153395|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27707468|PMID:27723096|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28600387|PMID:28663758|PMID:28679633|PMID:28701371|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:29057633|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29382405|PMID:29432544|PMID:29497013|PMID:29693488|PMID:29791652|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30165862|PMID:30287275|PMID:30402260|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31264968|PMID:31303467|PMID:31383942 8719462 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31857427|PMID:31977013|PMID:32004434|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32297714|PMID:32376792|PMID:32746448|PMID:32880476|PMID:32943904|PMID:33258288|PMID:33673806|PMID:34213952|PMID:35535697|PMID:8621584 8719462 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10080180|PMID:10580070|PMID:10612827|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10814726|PMID:10908904|PMID:10939567|PMID:11102526|PMID:11102973|PMID:11138304|PMID:11180602|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12196663|PMID:12628721|PMID:12649505|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12768443|PMID:12783988|PMID:12920062|PMID:14675861|PMID:14684700|PMID:14749366|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15184648|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16061563|PMID:16126733|PMID:16156025|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16386954|PMID:16407522|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16809772|PMID:16965317|PMID:16990647|PMID:17076270|PMID:17250669|PMID:17250699|PMID:17334235|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17536044|PMID:17599607|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18182166|PMID:18337098|PMID:1839274|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18795223|PMID:18816602|PMID:18926329|PMID:19084400|PMID:19167105|PMID:19172989|PMID:19318026|PMID:19328042|PMID:19424285|PMID:19427440|PMID:19524666|PMID:19589617|PMID:19638735|PMID:19680556|PMID:19842191|PMID:19875404|PMID:19882644|PMID:19933576|PMID:20155465|PMID:20160190|PMID:20301717|PMID:20497714|PMID:20576434|PMID:20580717|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21251803|PMID:21315846|PMID:21483645|PMID:21632249|PMID:21689390|PMID:21738662|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21980471|PMID:22071332|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22611635|PMID:22685055|PMID:2280636|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23062543|PMID:23141186|PMID:23142632|PMID:23183350|PMID:23299917|PMID:23349452|PMID:23360689|PMID:23362510|PMID:23427149|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23701190|PMID:23702046|PMID:23804595|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:24001739|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24846508|PMID:24915601|PMID:25025039|PMID:25214167|PMID:2526018|PMID:25274841|PMID:25351510|PMID:25448463|PMID:25469153|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25637381|PMID:25741868|PMID:25873806|PMID:25946677|PMID:25948554|PMID:25987458|PMID:25988045|PMID:26084686|PMID:26332594|PMID:26383716|PMID:26404900|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26602028|PMID:26670336|PMID:26899768|PMID:27000522|PMID:27153395|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27707468|PMID:27723096|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28600387|PMID:28663758|PMID:28679633|PMID:28701371|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:29057633|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29382405|PMID:29432544|PMID:29497013|PMID:29693488|PMID:29791652|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30165862|PMID:30287275|PMID:30402260|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31264968 8719462 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:31303467|PMID:31383942|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31857427|PMID:31977013|PMID:32004434|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32297714|PMID:32376792|PMID:32746448|PMID:32880476|PMID:32943904|PMID:33258288|PMID:33673806|PMID:34213952|PMID:34773379|PMID:35535697|PMID:8621584 8719462 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10080180|PMID:10580070|PMID:10612827|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10814726|PMID:10908904|PMID:10939567|PMID:11102526|PMID:11102973|PMID:11138304|PMID:11180602|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12196663|PMID:12628721|PMID:12649505|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12768443|PMID:12783988|PMID:12920062|PMID:14675861|PMID:14684700|PMID:14749366|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15184648|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16061563|PMID:16126733|PMID:16156025|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16386954|PMID:16407522|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16809772|PMID:16965317|PMID:16990647|PMID:17250669|PMID:17250699|PMID:17334235|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17536044|PMID:17599607|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18182166|PMID:18337098|PMID:1839274|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18795223|PMID:18816602|PMID:18926329|PMID:19084400|PMID:19167105|PMID:19172989|PMID:19318026|PMID:19328042|PMID:19424285|PMID:19427440|PMID:19524666|PMID:19589617|PMID:19638735|PMID:19680556|PMID:19842191|PMID:19875404|PMID:19882644|PMID:19933576|PMID:20155465|PMID:20160190|PMID:20301717|PMID:20497714|PMID:20576434|PMID:20580717|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21251803|PMID:21315846|PMID:21483645|PMID:21632249|PMID:21689390|PMID:21738662|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21980471|PMID:22071332|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22611635|PMID:22685055|PMID:2280636|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23062543|PMID:23141186|PMID:23142632|PMID:23183350|PMID:23299917|PMID:23349452|PMID:23360689|PMID:23362510|PMID:23427149|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23701190|PMID:23702046|PMID:23804595|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:24001739|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24846508|PMID:24915601|PMID:25025039|PMID:25214167|PMID:2526018|PMID:25274841|PMID:25351510|PMID:25448463|PMID:25469153|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25637381|PMID:25741868|PMID:25873806|PMID:25946677|PMID:25948554|PMID:25987458|PMID:25988045|PMID:26084686|PMID:26332594|PMID:26383716|PMID:26404900|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26602028|PMID:26670336|PMID:26899768|PMID:27000522|PMID:27153395|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27707468|PMID:27723096|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28600387|PMID:28663758|PMID:28679633|PMID:28701371|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:29057633|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29382405|PMID:29432544|PMID:29497013|PMID:29693488|PMID:29791652|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30165862|PMID:30287275|PMID:30402260|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31264968|PMID:31303467 8719462 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:31383942|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31857427|PMID:31977013|PMID:32004434|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32297714|PMID:32376792|PMID:32746448|PMID:32880476|PMID:32943904|PMID:33258288|PMID:33673806|PMID:34213952|PMID:34773379|PMID:35535697|PMID:8621584 8719462 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10908904|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102526|PMID:11102973|PMID:11136544|PMID:11138304|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12057196|PMID:12196663|PMID:12486434|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12768443|PMID:12783988|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14615128|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15184648|PMID:15298354|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16061563|PMID:16126733|PMID:16156025|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16459536|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16809772|PMID:16965317|PMID:16990647|PMID:17250669|PMID:17250699|PMID:17334235|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17599607|PMID:17711925|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18182166|PMID:18337098|PMID:1839274|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18538321|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18816602|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19084400|PMID:19167105|PMID:19172989|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19328042|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19882644|PMID:19933576|PMID:2007407|PMID:20130076|PMID:20155465|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20576434|PMID:20580717|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21251803|PMID:21315846|PMID:21465660|PMID:21479595|PMID:21483645|PMID:21632249|PMID:21689390|PMID:21738662|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22337857|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22611635|PMID:22685055|PMID:22700598|PMID:2280636|PMID:22806367|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23062543|PMID:23141186|PMID:23142632|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23360689|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23701190|PMID:23702046|PMID:23783098|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24037902|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24237251|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24846508|PMID:24915601|PMID:25025039|PMID:25210889|PMID:25214167|PMID:2526018|PMID:25274841|PMID:25343322|PMID:25351510|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25873806|PMID:25885670|PMID:25946677|PMID:25948554|PMID:25987458|PMID:25988045|PMID:26027246|PMID:26084686|PMID:26183555|PMID:26220970 8719462 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:26332594|PMID:26383259|PMID:26383716|PMID:26404900|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26670336|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27153395|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27595935|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:28912206|PMID:29057633|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29382405|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29620724|PMID:29693488|PMID:29791652|PMID:29892087|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30137533|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32297714|PMID:32376792|PMID:32666643|PMID:32727917|PMID:32746448|PMID:32818388|PMID:32880476|PMID:32943904|PMID:33258288|PMID:33407844|PMID:33673806|PMID:34213952|PMID:34240052|PMID:34363016|PMID:34768595|PMID:34773379|PMID:34999423|PMID:35535697|PMID:4740717|PMID:8621584|PMID:9500556|PMID:9536098 8719462 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:26027246|PMID:26084686|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26404900|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26670336|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27111165|PMID:27153395|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27595935|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:28912206|PMID:29057633|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29367541|PMID:29382405|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29620724|PMID:29676528|PMID:29693488|PMID:29753763|PMID:29791652|PMID:29892087|PMID:29893365|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30137533|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32297714|PMID:32376792|PMID:32458740|PMID:32571898|PMID:32666643|PMID:32727917|PMID:32746448|PMID:32818388|PMID:32880476|PMID:32943904|PMID:33258288|PMID:33407844|PMID:33502018|PMID:33673806|PMID:33963534|PMID:34213952|PMID:34240052|PMID:34363016|PMID:34768595|PMID:34773379|PMID:34999423|PMID:35535697|PMID:4740717|PMID:8621584|PMID:9500556|PMID:9536098 8719462 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10908904|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102526|PMID:11102973|PMID:11136544|PMID:11138304|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12486434|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12768443|PMID:12783988|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15184648|PMID:15298354|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16061563|PMID:16126733|PMID:16156025|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16459536|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16772334|PMID:16809772|PMID:16965317|PMID:16990647|PMID:17250669|PMID:17250699|PMID:17334235|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17599607|PMID:17711925|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18182166|PMID:18337098|PMID:1839274|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18538321|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18816602|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19084400|PMID:19167105|PMID:19172989|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19328042|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19882644|PMID:19933576|PMID:2007407|PMID:20130076|PMID:20155465|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20576434|PMID:20580717|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21251803|PMID:21315846|PMID:21479595|PMID:21483645|PMID:21632249|PMID:21689390|PMID:21738662|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22337857|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22611635|PMID:22685055|PMID:22700598|PMID:22806367|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23062543|PMID:23077635|PMID:23141186|PMID:23142632|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23360689|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23701190|PMID:23702046|PMID:23783098|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24037902|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24237251|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24846508|PMID:24915601|PMID:25025039|PMID:25210889|PMID:25214167|PMID:2526018|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25343322|PMID:25351510|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670 8719462 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10908904|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102526|PMID:11102973|PMID:11136544|PMID:11138304|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12486434|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12768443|PMID:12783988|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15184648|PMID:15298354|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16061563|PMID:16126733|PMID:16156025|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16459536|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16772334|PMID:16809772|PMID:16965317|PMID:16990647|PMID:17250669|PMID:17250699|PMID:17334235|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17599607|PMID:17711925|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18182166|PMID:18337098|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18538321|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18816602|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19084400|PMID:19167105|PMID:19172989|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19328042|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19882644|PMID:19933576|PMID:2007407|PMID:20130076|PMID:20155465|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20576434|PMID:20580717|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21251803|PMID:21315846|PMID:21479595|PMID:21483645|PMID:21520333|PMID:21632249|PMID:21689390|PMID:21738662|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22337857|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22611635|PMID:22685055|PMID:22700598|PMID:22806367|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23062543|PMID:23077635|PMID:23141186|PMID:23142632|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23360689|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23701190|PMID:23702046|PMID:23783098|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24037902|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24237251|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24846508|PMID:24915601|PMID:25025039|PMID:25210889|PMID:25214167|PMID:2526018|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25343322|PMID:25351510|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670 8719462 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10908904|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102526|PMID:11102973|PMID:11136544|PMID:11138304|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12467734|PMID:12486434|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12768443|PMID:12783988|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15184648|PMID:15298354|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16061563|PMID:16126733|PMID:16156025|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16459536|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16772334|PMID:16809772|PMID:16965317|PMID:16990647|PMID:17250669|PMID:17250699|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17599607|PMID:17711925|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18041775|PMID:18182166|PMID:18337098|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18538321|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18816602|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19084400|PMID:19167105|PMID:19172989|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19328042|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19882644|PMID:19933576|PMID:2007407|PMID:20130076|PMID:20155465|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20576434|PMID:20580717|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21251803|PMID:21315846|PMID:21479595|PMID:21483645|PMID:21520333|PMID:21632249|PMID:21689390|PMID:21738662|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22337857|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22611635|PMID:22685055|PMID:22700598|PMID:22806367|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23062543|PMID:23077635|PMID:23141186|PMID:23142632|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23360689|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23701190|PMID:23702046|PMID:23783098|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24037902|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24237251|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24846508|PMID:24915601|PMID:25025039|PMID:25163546|PMID:25210889|PMID:25214167|PMID:2526018|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25343322|PMID:25351510|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25556323|PMID:25567453 8719462 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:26027246|PMID:26084686|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26404900|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26670336|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27111165|PMID:27153395|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27595935|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:28912206|PMID:29057633|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29367541|PMID:29382405|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29620724|PMID:29676528|PMID:29693488|PMID:29753763|PMID:29791652|PMID:29892087|PMID:29893365|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30137533|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30919684|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32297714|PMID:32376792|PMID:32458740|PMID:32571898|PMID:32666643|PMID:32727917|PMID:32746448|PMID:32818388|PMID:32826072|PMID:32880476|PMID:32943904|PMID:33258288|PMID:33407844|PMID:33502018|PMID:33673806|PMID:33963534|PMID:34213952|PMID:34240052|PMID:34363016|PMID:34768595|PMID:34773379|PMID:34999423|PMID:35535697|PMID:4740717|PMID:8621584|PMID:9500556|PMID:9536098 8719462 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25567453|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:26027246|PMID:26084686|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26404900|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26670336|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27111165|PMID:27153395|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27595935|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:28912206|PMID:29057633|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29367541|PMID:29382405|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29620724|PMID:29676528|PMID:29693488|PMID:29753763|PMID:29791652|PMID:29892087|PMID:29893365|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30137533|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30919684|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32297714|PMID:32376792|PMID:32458740|PMID:32571898|PMID:32666643|PMID:32727917|PMID:32746448|PMID:32818388|PMID:32826072|PMID:32880476|PMID:32943904|PMID:33258288|PMID:33407844|PMID:33502018|PMID:33673806|PMID:33916827|PMID:33963534|PMID:34213952|PMID:34240052|PMID:34363016|PMID:34768595|PMID:34773379|PMID:34862408|PMID:34999423|PMID:35449878|PMID:35535697|PMID:4740717|PMID:8621584|PMID:9500556|PMID:9536098 8719462 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10908904|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102526|PMID:11102973|PMID:11136544|PMID:11138304|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12467734|PMID:12486434|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12768443|PMID:12783988|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15184648|PMID:15298354|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16061563|PMID:16126733|PMID:16156025|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16459536|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16772334|PMID:16809772|PMID:16965317|PMID:16990647|PMID:17250669|PMID:17250699|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17599607|PMID:17711925|PMID:17760566|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18041775|PMID:18182166|PMID:18337098|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18538321|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18816602|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19084400|PMID:19167105|PMID:19172989|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19328042|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19882644|PMID:19933576|PMID:2007407|PMID:20130076|PMID:20155465|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20576434|PMID:20580717|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21251803|PMID:21315846|PMID:21479595|PMID:21483645|PMID:21520333|PMID:21632249|PMID:21689390|PMID:21738662|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22337857|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22611635|PMID:22685055|PMID:22700598|PMID:22806367|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23062543|PMID:23077635|PMID:23141186|PMID:23142632|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23360689|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23701190|PMID:23702046|PMID:23783098|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24037902|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24237251|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24846508|PMID:24915601|PMID:25025039|PMID:25163546|PMID:25210889|PMID:25214167|PMID:2526018|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25343322|PMID:25351510|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25556323 8719462 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10908904|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102526|PMID:11102973|PMID:11136544|PMID:11138304|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12467734|PMID:12486434|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12768443|PMID:12783988|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15184648|PMID:15298354|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16061563|PMID:16126733|PMID:16156025|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16459536|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16772334|PMID:16809772|PMID:16965317|PMID:16990647|PMID:17250669|PMID:17250699|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17599607|PMID:17711925|PMID:17760566|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18041775|PMID:18182166|PMID:18337098|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18538321|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18816602|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19084400|PMID:19167105|PMID:19172989|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19328042|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19882644|PMID:19933576|PMID:2007407|PMID:20130076|PMID:20155465|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20576434|PMID:20580717|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21251803|PMID:21315846|PMID:21479595|PMID:21483645|PMID:21520333|PMID:21632249|PMID:21689390|PMID:21738662|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22337857|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22611635|PMID:22685055|PMID:22700598|PMID:22806367|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23062543|PMID:23077635|PMID:23141186|PMID:23142632|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23360689|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23701190|PMID:23702046|PMID:23783098|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24037902|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24237251|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24846508|PMID:24915601|PMID:25025039|PMID:25163546|PMID:25210889|PMID:25214167|PMID:2526018|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25326637|PMID:25343322|PMID:25351510|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159 8719462 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25556323|PMID:25567453|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:26027246|PMID:26084686|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26404900|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26670336|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27111165|PMID:27153395|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27595935|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:28912206|PMID:29057633|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29367541|PMID:29382405|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29620724|PMID:29676528|PMID:29693488|PMID:29753763|PMID:29791652|PMID:29892087|PMID:29893365|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30137533|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30919684|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32297714|PMID:32376792|PMID:32455078|PMID:32458740|PMID:32571898|PMID:32666643|PMID:32727917|PMID:32746448|PMID:32818388|PMID:32826072|PMID:32880476|PMID:32943904|PMID:33258288|PMID:33407844|PMID:33502018|PMID:33673806|PMID:33916827|PMID:33963534|PMID:34213952|PMID:34240052|PMID:34363016|PMID:34768595|PMID:34773379|PMID:34862408|PMID:34999423|PMID:35449878|PMID:35535697|PMID:4740717|PMID:8621584|PMID:9500556|PMID:9536098 8719462 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10908904|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102526|PMID:11102973|PMID:11136544|PMID:11138304|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12486434|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12768443|PMID:12783988|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15184648|PMID:15298354|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16061563|PMID:16126733|PMID:16156025|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16459536|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16772334|PMID:16809772|PMID:16965317|PMID:16990647|PMID:17250669|PMID:17250699|PMID:17334235|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17599607|PMID:17711925|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18041775|PMID:18182166|PMID:18337098|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18538321|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18816602|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19084400|PMID:19167105|PMID:19172989|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19328042|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19882644|PMID:19933576|PMID:2007407|PMID:20130076|PMID:20155465|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20576434|PMID:20580717|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21251803|PMID:21315846|PMID:21479595|PMID:21483645|PMID:21520333|PMID:21632249|PMID:21689390|PMID:21738662|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22337857|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22611635|PMID:22685055|PMID:22700598|PMID:22806367|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23062543|PMID:23077635|PMID:23141186|PMID:23142632|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23360689|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23701190|PMID:23702046|PMID:23783098|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24037902|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24237251|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24846508|PMID:24915601|PMID:25025039|PMID:25163546|PMID:25210889|PMID:25214167|PMID:2526018|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25343322|PMID:25351510|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658 8719462 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25873806|PMID:25885670|PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:26027246|PMID:26084686|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26404900|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26670336|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27111165|PMID:27153395|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27595935|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:28912206|PMID:29057633|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29367541|PMID:29382405|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29620724|PMID:29676528|PMID:29693488|PMID:29753763|PMID:29791652|PMID:29892087|PMID:29893365|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30137533|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30919684|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32297714|PMID:32376792|PMID:32455078|PMID:32458740|PMID:32571898|PMID:32666643|PMID:32727917|PMID:32746448|PMID:32818388|PMID:32826072|PMID:32880476|PMID:32943904|PMID:33258288|PMID:33407844|PMID:33502018|PMID:33673806|PMID:33916827|PMID:33963534|PMID:34213952|PMID:34240052|PMID:34363016|PMID:34768595|PMID:34773379|PMID:34999423|PMID:35526016|PMID:35535697|PMID:4740717|PMID:8621584|PMID:9500556|PMID:9536098 8719462 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10908904|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102526|PMID:11102973|PMID:11136544|PMID:11138304|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12486434|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12768443|PMID:12783988|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15184648|PMID:15298354|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16061563|PMID:16126733|PMID:16156025|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16459536|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16772334|PMID:16809772|PMID:16965317|PMID:16990647|PMID:17136397|PMID:17250669|PMID:17250699|PMID:17334235|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17599607|PMID:17711925|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18041775|PMID:18182166|PMID:18337098|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18538321|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18816602|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19084400|PMID:19167105|PMID:19172989|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19328042|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19882644|PMID:19933576|PMID:2007407|PMID:20130076|PMID:20155465|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20576434|PMID:20580717|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21251803|PMID:21315846|PMID:21479595|PMID:21483645|PMID:21520333|PMID:21632249|PMID:21689390|PMID:21738662|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22337857|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22611635|PMID:22685055|PMID:22700598|PMID:22806367|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23062543|PMID:23077635|PMID:23141186|PMID:23142632|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23360689|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23701190|PMID:23702046|PMID:23783098|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24037902|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24237251|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24846508|PMID:24915601|PMID:24990833|PMID:25025039|PMID:25163546|PMID:25210889|PMID:25214167|PMID:2526018|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25343322|PMID:25351510|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25617006|PMID:25637381 8719462 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:26027246|PMID:26084686|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26670336|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27111165|PMID:27153395|PMID:27220833|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27595935|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:28912206|PMID:29057633|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29367541|PMID:29382405|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29620724|PMID:29676528|PMID:29693488|PMID:29753763|PMID:29791652|PMID:29892087|PMID:29893365|PMID:29895224|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30055862|PMID:30137533|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30919684|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32297714|PMID:32376792|PMID:32455078|PMID:32458740|PMID:32571898|PMID:32666643|PMID:32727917|PMID:32746448|PMID:32818388|PMID:32826072|PMID:32880476|PMID:32943904|PMID:33258288|PMID:33407844|PMID:33502018|PMID:33673806|PMID:33916827|PMID:33963534|PMID:34213952|PMID:34240052|PMID:34363016|PMID:34768595|PMID:34773379|PMID:34862408|PMID:34999423|PMID:35526016|PMID:35535697|PMID:4740717|PMID:8619549|PMID:8621584|PMID:9106535|PMID:9500556|PMID:9536098 8719462 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:26027246|PMID:26084686|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26670336|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27111165|PMID:27153395|PMID:27220833|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27595935|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:28912206|PMID:29057633|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29367541|PMID:29382405|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29620724|PMID:29676528|PMID:29693488|PMID:29753763|PMID:29791652|PMID:29892087|PMID:29893365|PMID:29895224|PMID:29943882|PMID:29952368|PMID:29961767|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30055862|PMID:30137533|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30919684|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31410651|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32297714|PMID:32376792|PMID:32455078|PMID:32458740|PMID:32571898|PMID:32666643|PMID:32727917|PMID:32746448|PMID:32818388|PMID:32826072|PMID:32880476|PMID:32943904|PMID:33258288|PMID:33407844|PMID:33502018|PMID:33673806|PMID:33916827|PMID:33963534|PMID:34213952|PMID:34240052|PMID:34363016|PMID:34495297|PMID:34720847|PMID:34768595|PMID:34773379|PMID:34862408|PMID:34999423|PMID:35026164|PMID:35239206|PMID:35434999|PMID:35449878|PMID:35526016|PMID:35535697|PMID:36397776|PMID:4740717|PMID:8619549|PMID:8621584|PMID:9106535|PMID:9500556|PMID:9536098 8719462 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10908904|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102526|PMID:11102973|PMID:11136544|PMID:11138304|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12467752|PMID:12486434|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12768443|PMID:12783988|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15184648|PMID:15298354|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16061563|PMID:16126733|PMID:16156025|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16459536|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16772334|PMID:16809772|PMID:16965317|PMID:16990647|PMID:17136397|PMID:17250669|PMID:17250699|PMID:17334235|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17599607|PMID:17711925|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18041775|PMID:18182166|PMID:18337098|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18538321|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18816602|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19084400|PMID:19167105|PMID:19172989|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19328042|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19882644|PMID:19933576|PMID:2007407|PMID:20130076|PMID:20155465|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20576434|PMID:20580717|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21251803|PMID:21315846|PMID:21479595|PMID:21483645|PMID:21520333|PMID:21632249|PMID:21689390|PMID:21738662|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22337857|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22611635|PMID:22685055|PMID:22700598|PMID:22806367|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23062543|PMID:23077635|PMID:23141186|PMID:23142632|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23360689|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23701190|PMID:23702046|PMID:23783098|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24037902|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24237251|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24846508|PMID:24915601|PMID:24990833|PMID:25025039|PMID:25163546|PMID:25210889|PMID:25214167|PMID:2526018|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25343322|PMID:25351510|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25617006 8719462 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:26027246|PMID:26084686|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26670336|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27111165|PMID:27153395|PMID:27182706|PMID:27220833|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27498076|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27595935|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28082330|PMID:28087566|PMID:28125586|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:28912206|PMID:29057633|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29253866|PMID:29367541|PMID:29382405|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29620724|PMID:29676528|PMID:29693488|PMID:29753763|PMID:29773157|PMID:29791652|PMID:29892087|PMID:29893365|PMID:29895224|PMID:29943882|PMID:29952368|PMID:29961767|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30055862|PMID:30137533|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30919684|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31410651|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32297714|PMID:32376792|PMID:32455078|PMID:32458740|PMID:32571898|PMID:32616434|PMID:32666643|PMID:32685188|PMID:32727917|PMID:32746448|PMID:32818388|PMID:32826072|PMID:32880476|PMID:32943904|PMID:33258288|PMID:33407844|PMID:33502018|PMID:33673806|PMID:33713793|PMID:33803191|PMID:33916827|PMID:33963534|PMID:34213952|PMID:34240052|PMID:34363016|PMID:34495297|PMID:34720847|PMID:34768595|PMID:34773379|PMID:34862408|PMID:34999423|PMID:35026164|PMID:35239206|PMID:35434999|PMID:35449878|PMID:35526016|PMID:35535697|PMID:35772917|PMID:36267857|PMID:36397776|PMID:36646731|PMID:4740717|PMID:8619549|PMID:8621584|PMID:9106535|PMID:9500556|PMID:9536098 8719462 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:26027246|PMID:26084686|PMID:26183555|PMID:26220970|PMID:262236|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26670336|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27111165|PMID:27153395|PMID:27182706|PMID:27220833|PMID:2733290|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27498076|PMID:27504462|PMID:27506821|PMID:27529282|PMID:2753225|PMID:27532257|PMID:27585670|PMID:27595935|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28082330|PMID:28087566|PMID:28125586|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:28912206|PMID:29057633|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29253866|PMID:29255176|PMID:29367541|PMID:29382405|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29557732|PMID:29620724|PMID:29676528|PMID:29693488|PMID:29753763|PMID:29773157|PMID:29791652|PMID:29892087|PMID:29893365|PMID:29895224|PMID:29943882|PMID:29952368|PMID:29961767|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30055862|PMID:30137533|PMID:30165155|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30429050|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30919684|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31042466|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31410651|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32193531|PMID:32297714|PMID:32376792|PMID:32455078|PMID:32458740|PMID:32571898|PMID:32616434|PMID:32666643|PMID:32685188|PMID:32727917|PMID:32746448|PMID:32818388|PMID:32826072|PMID:32880476|PMID:32943904|PMID:33258288|PMID:33407844|PMID:33502018|PMID:33673806|PMID:33713793|PMID:33803191|PMID:33803652|PMID:33916827|PMID:33963534|PMID:34213952|PMID:34240052|PMID:34340952|PMID:34363016|PMID:34495297|PMID:34621001|PMID:34720847|PMID:34768595|PMID:34773379|PMID:34788595|PMID:34808346|PMID:34862408|PMID:34865644|PMID:34935411|PMID:34999423|PMID:35026164|PMID:35239206|PMID:35291351|PMID:35434999|PMID:35449878|PMID:35526016|PMID:35535697|PMID:35581137|PMID:35653365|PMID:35772917|PMID:36178741|PMID:36267857|PMID:36397776|PMID:36646731|PMID:37246508|PMID:37679847|PMID:4740717|PMID:8619549|PMID:8621584|PMID:9106535|PMID:9500556|PMID:9536098 8719462 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:32685188|PMID:32698523|PMID:32727917|PMID:32746448|PMID:32789579|PMID:32789750|PMID:32792077|PMID:32793522|PMID:32818388|PMID:32826072|PMID:32846814|PMID:32880476|PMID:32939435|PMID:32943904|PMID:33029862|PMID:33038109|PMID:33258288|PMID:33407844|PMID:33422685|PMID:33458588|PMID:33502018|PMID:33673806|PMID:33713793|PMID:33803191|PMID:33803652|PMID:33893211|PMID:33916827|PMID:33963534|PMID:34011823|PMID:34135346|PMID:34213952|PMID:34240052|PMID:34292171|PMID:34317510|PMID:34340952|PMID:34363016|PMID:34495297|PMID:34621001|PMID:34638534|PMID:34680903|PMID:34720847|PMID:34768595|PMID:34773379|PMID:34788595|PMID:34808346|PMID:34862408|PMID:34865644|PMID:34935411|PMID:34975533|PMID:34999423|PMID:35026164|PMID:35239206|PMID:35284542|PMID:35291351|PMID:35384599|PMID:35434999|PMID:35449878|PMID:35470684|PMID:35526016|PMID:35528128|PMID:35533453|PMID:35535697|PMID:35581137|PMID:35653365|PMID:35772917|PMID:35887646|PMID:36111332|PMID:36178741|PMID:36264615|PMID:36267857|PMID:36282542|PMID:36397776|PMID:36646731|PMID:37178278|PMID:37246508|PMID:37589201|PMID:37679847|PMID:4740717|PMID:8344919|PMID:8619549|PMID:8621584|PMID:9106535|PMID:9500556|PMID:9536098 8719462 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10908904|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102526|PMID:11102973|PMID:11136544|PMID:11138304|PMID:11180602|PMID:11231979|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12376891|PMID:12467734|PMID:12467752|PMID:12486434|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12716787|PMID:12768443|PMID:12783988|PMID:12788894|PMID:12854972|PMID:12920062|PMID:12927424|PMID:12927431|PMID:12938084|PMID:13129702|PMID:14510863|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:14985400|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15184648|PMID:15219508|PMID:15286156|PMID:15298354|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15473259|PMID:15475483|PMID:15531479|PMID:15539782|PMID:15678000|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15832002|PMID:15843404|PMID:15965218|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16046620|PMID:16061563|PMID:16126733|PMID:16156025|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16459536|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16772334|PMID:16809772|PMID:16825282|PMID:16965317|PMID:16990647|PMID:17107595|PMID:17136397|PMID:17250669|PMID:17250699|PMID:17274801|PMID:17325275|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17599607|PMID:17612587|PMID:17711925|PMID:17760566|PMID:17848409|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18035816|PMID:18041775|PMID:18337098|PMID:18348272|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18538321|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18796515|PMID:18808171|PMID:18816602|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19084400|PMID:19167105|PMID:19172989|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19328042|PMID:19401371|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19875478|PMID:19882644|PMID:19933576|PMID:2007407|PMID:20074070|PMID:20127487|PMID:20130076|PMID:20155465|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20576434|PMID:20580717|PMID:20590677|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21179469|PMID:21251803|PMID:21315846|PMID:21346069|PMID:21400569|PMID:21479595|PMID:21483645|PMID:21520333|PMID:21535365|PMID:21632249|PMID:21689390|PMID:21738662|PMID:21818408|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21970986|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22103509|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22337857|PMID:22355414|PMID:22413764|PMID:22431096|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22611635|PMID:22685055|PMID:2270059|PMID:22700598|PMID:22761994|PMID:22806367|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23062543|PMID:23077635|PMID:23141186|PMID:23142632|PMID:23150259|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23360689|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23483212|PMID:23497705 8719462 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:23582089|PMID:23631840|PMID:23644458|PMID:23701190|PMID:23702046|PMID:23757202|PMID:23783098|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24037902|PMID:24055113|PMID:24058181|PMID:24080738|PMID:24108105|PMID:24169522|PMID:24237251|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24846508|PMID:24861648|PMID:24915601|PMID:24943589|PMID:24990833|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25274841|PMID:25286833|PMID:25319090|PMID:25324471|PMID:25343322|PMID:25351510|PMID:25371241|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25569433|PMID:25617006|PMID:25637381|PMID:25656816|PMID:25741868|PMID:25793944|PMID:25819867|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:26027246|PMID:26084686|PMID:26098624|PMID:26183555|PMID:26199943|PMID:26220970|PMID:262236|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26392352|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26573435|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26670336|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27111165|PMID:27153395|PMID:27182706|PMID:27199538|PMID:27220833|PMID:27235420|PMID:2733290|PMID:27332903|PMID:27374873|PMID:27405450|PMID:27421120|PMID:27447704|PMID:27498076|PMID:27504462|PMID:27506821|PMID:27529282|PMID:2753225|PMID:27532257|PMID:27585670|PMID:27595935|PMID:27600705|PMID:27633507|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841901|PMID:27841971|PMID:27845687|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28082330|PMID:28087566|PMID:28118183|PMID:28123761|PMID:28125586|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28341588|PMID:28349240|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28620495|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:28912206|PMID:28987496|PMID:29057633|PMID:29078011|PMID:29095976|PMID:29121657|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29247119|PMID:29253866|PMID:29255176|PMID:29367541|PMID:29382405|PMID:29386531|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29540472|PMID:29557732|PMID:29620724|PMID:29676528|PMID:29693488|PMID:29753763|PMID:29773157|PMID:29791652|PMID:29892087|PMID:29893365|PMID:29895224|PMID:29907918|PMID:29943882|PMID:29947763|PMID:29952368|PMID:29961767|PMID:29970176|PMID:30007954|PMID:30008018|PMID:30012837|PMID:30055862|PMID:30122538|PMID:30137533|PMID:30165155|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30199159|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30429050|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30595509|PMID:30739589|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30919684|PMID:31006814|PMID:31019283|PMID:31194872|PMID:31208058|PMID:31264968|PMID:31296869|PMID:31303467|PMID:31378009|PMID:31383942|PMID:31402444|PMID:31410651|PMID:31428229|PMID:31447099|PMID:31453089|PMID:31476771|PMID:31498906|PMID:31514951|PMID:31521807|PMID:31525256|PMID:31527676|PMID:31744510|PMID:31794942|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31957533|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32021920|PMID:32041611|PMID:32041989|PMID:32083564|PMID:32155092|PMID:32160020|PMID:32193531|PMID:32297714|PMID:32376792|PMID:32413188|PMID:32455078|PMID:32456328|PMID:32458740|PMID:32461654|PMID:32517491|PMID:32528171|PMID:32571898|PMID:32616434|PMID:32666643 8719462 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:32685188|PMID:32698523|PMID:32727917|PMID:32746448|PMID:32789579|PMID:32789750|PMID:32792077|PMID:32793522|PMID:32818388|PMID:32826072|PMID:32846814|PMID:32880476|PMID:32939435|PMID:32943904|PMID:33029862|PMID:33038109|PMID:33258288|PMID:33407844|PMID:33422685|PMID:33458588|PMID:33502018|PMID:33673806|PMID:33713793|PMID:33803191|PMID:33803652|PMID:33893211|PMID:33916827|PMID:33963534|PMID:34011823|PMID:34135346|PMID:34213952|PMID:34240052|PMID:34292171|PMID:34317510|PMID:34340952|PMID:34363016|PMID:34495297|PMID:34621001|PMID:34638534|PMID:34680903|PMID:34720847|PMID:34768595|PMID:34773379|PMID:34788595|PMID:34808346|PMID:34862408|PMID:34865644|PMID:34935411|PMID:34975533|PMID:34999423|PMID:35026164|PMID:35239206|PMID:35284542|PMID:35291351|PMID:35384599|PMID:35434999|PMID:35449878|PMID:35470684|PMID:35526016|PMID:35528128|PMID:35533453|PMID:35535697|PMID:35581137|PMID:35653365|PMID:35772917|PMID:35887646|PMID:36111332|PMID:36178741|PMID:36264615|PMID:36267857|PMID:36282542|PMID:36397776|PMID:36646731|PMID:37178278|PMID:37246508|PMID:37589201|PMID:37652022|PMID:37679847|PMID:4740717|PMID:8344919|PMID:8619549|PMID:8621584|PMID:9106535|PMID:9500556|PMID:9536098 8719462 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:32517491|PMID:32528171|PMID:32571898|PMID:32616434|PMID:32666643|PMID:32685188|PMID:32698523|PMID:32727917|PMID:32746448|PMID:32789579|PMID:32789750|PMID:32792077|PMID:32793522|PMID:32818388|PMID:32826072|PMID:32846814|PMID:32880476|PMID:32939435|PMID:32943904|PMID:33029862|PMID:33038109|PMID:33258288|PMID:33407844|PMID:33422685|PMID:33458588|PMID:33502018|PMID:33673806|PMID:33713793|PMID:33803191|PMID:33803652|PMID:33893211|PMID:33916827|PMID:33963534|PMID:34011823|PMID:34135346|PMID:34213952|PMID:34240052|PMID:34292171|PMID:34317510|PMID:34340952|PMID:34363016|PMID:34495297|PMID:34621001|PMID:34638534|PMID:34680903|PMID:34720847|PMID:34768595|PMID:34773379|PMID:34788595|PMID:34808346|PMID:34862408|PMID:34865644|PMID:34935411|PMID:34975533|PMID:34999423|PMID:35026164|PMID:35239206|PMID:35284542|PMID:35291351|PMID:35384599|PMID:35434999|PMID:35449878|PMID:35470684|PMID:35526016|PMID:35528128|PMID:35533453|PMID:35535697|PMID:35581137|PMID:35653365|PMID:35772917|PMID:35887646|PMID:36111332|PMID:36178741|PMID:36253810|PMID:36264615|PMID:36267857|PMID:36282542|PMID:36397776|PMID:36646731|PMID:37178278|PMID:37246508|PMID:37589201|PMID:37652022|PMID:37679847|PMID:4740717|PMID:8344919|PMID:8619549|PMID:8621584|PMID:9106535|PMID:9500556|PMID:9536098 8719462 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10908904|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102526|PMID:11102973|PMID:11136544|PMID:11138304|PMID:11180602|PMID:11231979|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12376891|PMID:12467734|PMID:12467752|PMID:12486434|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12716787|PMID:12768443|PMID:12783988|PMID:12788894|PMID:12854972|PMID:12920062|PMID:12927424|PMID:12927431|PMID:12938084|PMID:13129702|PMID:14510863|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:14985400|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15184648|PMID:15219508|PMID:15286156|PMID:15298354|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15473259|PMID:15475483|PMID:15531479|PMID:15539782|PMID:15678000|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15832002|PMID:15843404|PMID:15965218|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16046620|PMID:16061563|PMID:16126733|PMID:16156025|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16459536|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16772334|PMID:16809772|PMID:16825282|PMID:16965317|PMID:16990647|PMID:17107595|PMID:17136397|PMID:17250669|PMID:17250699|PMID:17274801|PMID:17325275|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17599607|PMID:17612587|PMID:17711925|PMID:17760566|PMID:17848409|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18035816|PMID:18041775|PMID:18337098|PMID:18348272|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18538321|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18796515|PMID:18808171|PMID:18816602|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19084400|PMID:19167105|PMID:19172989|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19328042|PMID:19401371|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19446900|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19875478|PMID:19882644|PMID:19933576|PMID:2007407|PMID:20074070|PMID:20127487|PMID:20130076|PMID:20155465|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20576434|PMID:20580717|PMID:20590677|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21179469|PMID:21251803|PMID:21315846|PMID:21346069|PMID:21400569|PMID:21462202|PMID:21479595|PMID:21483645|PMID:21520333|PMID:21535365|PMID:21632249|PMID:21689390|PMID:21738662|PMID:21818408|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21970986|PMID:21980471|PMID:21989830|PMID:22068161|PMID:22071332|PMID:22103509|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22337857|PMID:22355414|PMID:22413764|PMID:22431096|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22611635|PMID:22685055|PMID:2270059|PMID:22700598|PMID:22761994|PMID:22806367|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23062543|PMID:23077635|PMID:23141186|PMID:23142632|PMID:23150259|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23360689|PMID:23362510|PMID:2338570 8719462 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:23427149|PMID:23483212|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23701190|PMID:23702046|PMID:23757202|PMID:23783098|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24037902|PMID:24055113|PMID:24058181|PMID:24080738|PMID:24108105|PMID:24169522|PMID:24237251|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24459210|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24846508|PMID:24861648|PMID:24915601|PMID:24943589|PMID:24990833|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25274841|PMID:25286833|PMID:25319090|PMID:25324471|PMID:25343322|PMID:25351510|PMID:25371241|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25569433|PMID:25617006|PMID:25637381|PMID:25656816|PMID:25741868|PMID:25793944|PMID:25819867|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:26027246|PMID:26084686|PMID:26098624|PMID:26183555|PMID:26199943|PMID:26220970|PMID:262236|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26392352|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26573435|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26670336|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27111165|PMID:27153395|PMID:27182706|PMID:27199538|PMID:27220833|PMID:27235420|PMID:2733290|PMID:27332903|PMID:27363342|PMID:27374873|PMID:27405450|PMID:27421120|PMID:27447704|PMID:27498076|PMID:27504462|PMID:27506821|PMID:27529282|PMID:2753225|PMID:27532257|PMID:27585670|PMID:27595935|PMID:27600705|PMID:27633507|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841901|PMID:27841971|PMID:27845687|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28082330|PMID:28087566|PMID:28118183|PMID:28123761|PMID:28125586|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28341588|PMID:28349240|PMID:28416588|PMID:28425981|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28620495|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:28912206|PMID:28987496|PMID:29057633|PMID:29078011|PMID:29095976|PMID:29121657|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29247119|PMID:29253866|PMID:29255176|PMID:29367541|PMID:29382405|PMID:29386531|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29540472|PMID:29557732|PMID:29620724|PMID:29676528|PMID:29693488|PMID:29753763|PMID:29773157|PMID:29791652|PMID:29892087|PMID:29893365|PMID:29895224|PMID:29907918|PMID:29943882|PMID:29947763|PMID:29952368|PMID:29961767|PMID:29970176|PMID:30007954|PMID:30008018|PMID:30012837|PMID:30055862|PMID:30107846|PMID:30122538|PMID:30137533|PMID:30165155|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30199159|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30429050|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30595509|PMID:30739589|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30919684|PMID:31006814|PMID:31019283|PMID:31127727|PMID:31194872|PMID:31208058|PMID:31264968|PMID:31296869|PMID:31303467|PMID:31378009|PMID:31383942|PMID:31402444|PMID:31410651|PMID:31428229|PMID:31447099|PMID:31453089|PMID:31476771|PMID:31498906|PMID:31514951|PMID:31521807|PMID:31525256|PMID:31527676|PMID:31744510|PMID:31794942|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31931689|PMID:31957533|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32021920|PMID:32041611|PMID:32041989|PMID:32083564|PMID:32155092|PMID:32160020|PMID:32193531|PMID:32297714|PMID:32376792|PMID:32413188 8719462 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:32455078|PMID:32456328|PMID:32458740|PMID:32461654|PMID:32517491|PMID:32528171|PMID:32571898|PMID:32616434|PMID:32666643|PMID:32685188|PMID:32698523|PMID:32727917|PMID:32746448|PMID:32789579|PMID:32789750|PMID:32792077|PMID:32793522|PMID:32818388|PMID:32826072|PMID:32846814|PMID:32880476|PMID:32913962|PMID:32939435|PMID:32943904|PMID:33029862|PMID:33038109|PMID:33258288|PMID:33304817|PMID:33407844|PMID:33422685|PMID:33458588|PMID:33500567|PMID:33502018|PMID:33673806|PMID:33713793|PMID:33803191|PMID:33803652|PMID:33893211|PMID:33916827|PMID:33963534|PMID:34011823|PMID:34135346|PMID:34213952|PMID:34240052|PMID:34292171|PMID:34317510|PMID:34340952|PMID:34363016|PMID:34495297|PMID:34621001|PMID:34638534|PMID:34680903|PMID:34720847|PMID:34768595|PMID:34773379|PMID:34788595|PMID:34808346|PMID:34862408|PMID:34865644|PMID:34935411|PMID:34975533|PMID:34999423|PMID:35026164|PMID:35239206|PMID:35284542|PMID:35291351|PMID:35384599|PMID:35434999|PMID:35449878|PMID:35470684|PMID:35526016|PMID:35528128|PMID:35533453|PMID:35535697|PMID:35581137|PMID:35653365|PMID:35772917|PMID:35887646|PMID:36111332|PMID:36178741|PMID:36253810|PMID:36264615|PMID:36267857|PMID:36282542|PMID:36397776|PMID:36646731|PMID:36704457|PMID:36732629|PMID:36971006|PMID:37178278|PMID:37246508|PMID:37589201|PMID:37652022|PMID:37679847|PMID:4740717|PMID:8344919|PMID:8619549|PMID:8621584|PMID:9106535|PMID:9500556|PMID:9536098 8719462 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10908904|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102526|PMID:11102973|PMID:11136544|PMID:11138304|PMID:11180602|PMID:11231979|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12376891|PMID:12467734|PMID:12467752|PMID:12486434|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12716787|PMID:12768443|PMID:12783988|PMID:12788894|PMID:12854972|PMID:12920062|PMID:12927424|PMID:12927431|PMID:12938084|PMID:13129702|PMID:14510863|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:14985400|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15184648|PMID:15219508|PMID:15286156|PMID:15298354|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15473259|PMID:15475483|PMID:15531479|PMID:15539782|PMID:15678000|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15832002|PMID:15843404|PMID:15965218|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16046620|PMID:16061563|PMID:16126733|PMID:16156025|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16459536|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16772334|PMID:16809772|PMID:16825282|PMID:16965317|PMID:16990647|PMID:17107595|PMID:17136397|PMID:17250669|PMID:17250699|PMID:17274801|PMID:17325275|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17599607|PMID:17605093|PMID:17612587|PMID:17711925|PMID:17760566|PMID:17848409|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18035816|PMID:18041775|PMID:18337098|PMID:18348272|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18538321|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18796515|PMID:18808171|PMID:18816602|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19084400|PMID:19167105|PMID:19172989|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19328042|PMID:19401371|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19446900|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19875478|PMID:19882644|PMID:19933576|PMID:2007407|PMID:20074070|PMID:20127487|PMID:20130076|PMID:20155465|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20576434|PMID:20580717|PMID:20590677|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21179469|PMID:21251803|PMID:21315846|PMID:21346069|PMID:21400569|PMID:21462202|PMID:21479595|PMID:21483645|PMID:21520333|PMID:21535365|PMID:21632249|PMID:21689390|PMID:21738662|PMID:21818408|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21883346|PMID:21945321|PMID:21970986|PMID:21980471|PMID:21989830|PMID:22068161|PMID:22071332|PMID:22103509|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22337857|PMID:22355414|PMID:22413764|PMID:22431096|PMID:22464770|PMID:22526018|PMID:22549407|PMID:22570643|PMID:22611635|PMID:22685055|PMID:2270059|PMID:22700598|PMID:22761994|PMID:22806367|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23062543|PMID:23077635|PMID:23141186|PMID:23142632|PMID:23150259|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570 8719462 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:23349452|PMID:23360689|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23483212|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23701190|PMID:23702046|PMID:23757202|PMID:23775434|PMID:23783098|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24037902|PMID:24055113|PMID:24058181|PMID:24080738|PMID:24108105|PMID:24169522|PMID:24237251|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24459210|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24846508|PMID:24861648|PMID:24915601|PMID:24943589|PMID:24990833|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25274841|PMID:25286833|PMID:25319090|PMID:25324471|PMID:25343322|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25569433|PMID:25617006|PMID:25637381|PMID:25656816|PMID:25741868|PMID:25793944|PMID:25819867|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:26027246|PMID:26084686|PMID:26098624|PMID:26183555|PMID:26199943|PMID:26220970|PMID:262236|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26392352|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26573435|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26670336|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26743238|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27111165|PMID:27153395|PMID:27182706|PMID:27199538|PMID:27220833|PMID:27235420|PMID:2733290|PMID:27332903|PMID:27363342|PMID:27374873|PMID:27405450|PMID:27421120|PMID:27447704|PMID:27498076|PMID:27504462|PMID:27506821|PMID:27529282|PMID:2753225|PMID:27532257|PMID:27585670|PMID:27595935|PMID:27600705|PMID:27633507|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841901|PMID:27841971|PMID:27845687|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28082330|PMID:28087566|PMID:28118183|PMID:28123761|PMID:28125586|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28341588|PMID:28349240|PMID:28416588|PMID:28425981|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28620495|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:28912206|PMID:28987496|PMID:29057633|PMID:29078011|PMID:29095976|PMID:29121657|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29247119|PMID:29253866|PMID:29255176|PMID:29367541|PMID:29382405|PMID:29386531|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29540472|PMID:29557732|PMID:29618840|PMID:29620724|PMID:29676528|PMID:29693488|PMID:29709087|PMID:29753763|PMID:29773157|PMID:29791652|PMID:29892087|PMID:29893365|PMID:29895224|PMID:29907918|PMID:29943882|PMID:29947763|PMID:29952368|PMID:29961767|PMID:29970176|PMID:30007954|PMID:30008018|PMID:30012837|PMID:30055862|PMID:30107846|PMID:30122538|PMID:30137533|PMID:30165155|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30199159|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30429050|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30595509|PMID:30739589|PMID:30765282|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30919684|PMID:31006814|PMID:31019283|PMID:31127727|PMID:31194872|PMID:31208058|PMID:31264968|PMID:31296869|PMID:31303467|PMID:31378009|PMID:31383942|PMID:31402444|PMID:31410651|PMID:31428229|PMID:31447099|PMID:31453089|PMID:31476771|PMID:31498906|PMID:31514951|PMID:31521807|PMID:31525256|PMID:31527676|PMID:31744510|PMID:31794942|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31931689|PMID:31957533|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908 8719462 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:32021920|PMID:32041611|PMID:32041989|PMID:32083564|PMID:32155092|PMID:32160020|PMID:32193531|PMID:32297714|PMID:32376792|PMID:32413188|PMID:32455078|PMID:32456328|PMID:32458740|PMID:32461654|PMID:32517491|PMID:32528171|PMID:32571898|PMID:32616434|PMID:32666643|PMID:32685188|PMID:32695585|PMID:32698523|PMID:32727917|PMID:32746448|PMID:32789579|PMID:32789750|PMID:32792077|PMID:32793522|PMID:32818388|PMID:32826072|PMID:32846814|PMID:32880476|PMID:32913962|PMID:32939435|PMID:32943904|PMID:33029862|PMID:33038109|PMID:33070394|PMID:33258288|PMID:33304817|PMID:33407844|PMID:33422685|PMID:33458588|PMID:33500567|PMID:33502018|PMID:33673806|PMID:33713793|PMID:33803191|PMID:33803652|PMID:33824984|PMID:33887581|PMID:33893211|PMID:33916827|PMID:33963534|PMID:34011823|PMID:34135346|PMID:34213952|PMID:34240052|PMID:34292171|PMID:34317510|PMID:34340952|PMID:34363016|PMID:34495297|PMID:34621001|PMID:34638534|PMID:34680903|PMID:34720847|PMID:34768595|PMID:34773379|PMID:34788595|PMID:34808346|PMID:34862408|PMID:34865644|PMID:34935411|PMID:34954454|PMID:34975533|PMID:34999423|PMID:35026164|PMID:35239206|PMID:35284542|PMID:35288587|PMID:35291351|PMID:35384599|PMID:35387801|PMID:35434999|PMID:35449878|PMID:35470684|PMID:35526016|PMID:35528128|PMID:35533453|PMID:35535697|PMID:35581137|PMID:35653365|PMID:35772917|PMID:35887646|PMID:36111332|PMID:36178741|PMID:36253810|PMID:36264615|PMID:36267857|PMID:36282542|PMID:36352512|PMID:36397776|PMID:36646731|PMID:36704457|PMID:36732629|PMID:36971006|PMID:37178278|PMID:37246508|PMID:37589201|PMID:37652022|PMID:37679847|PMID:37904629|PMID:38048861|PMID:38247853|PMID:38489124|PMID:38691546|PMID:4740717|PMID:8344919|PMID:8619549|PMID:8621584|PMID:9106535|PMID:9500556|PMID:9536098 8719462 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10908904|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102526|PMID:11102973|PMID:11136544|PMID:11138304|PMID:11180602|PMID:11231979|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12376891|PMID:12467734|PMID:12467752|PMID:12486434|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12716787|PMID:12768443|PMID:12783988|PMID:12788894|PMID:12854972|PMID:12920062|PMID:12927424|PMID:12927431|PMID:12938084|PMID:13129702|PMID:14510863|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:14985400|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15184648|PMID:15219508|PMID:15286156|PMID:15298354|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15473259|PMID:15475483|PMID:15531479|PMID:15539782|PMID:15678000|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15832002|PMID:15843404|PMID:15965218|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16046620|PMID:16061563|PMID:16126733|PMID:16156025|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16459536|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16705075|PMID:16715312|PMID:16738054|PMID:16772334|PMID:16809772|PMID:16825282|PMID:16965317|PMID:16990647|PMID:17107595|PMID:17136397|PMID:17250669|PMID:17250699|PMID:17274801|PMID:17325275|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17599607|PMID:17605093|PMID:17612587|PMID:17711925|PMID:17760566|PMID:17848409|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18035816|PMID:18041775|PMID:18337098|PMID:18348272|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18538321|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18796515|PMID:18808171|PMID:18816602|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19084400|PMID:19167105|PMID:19172989|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19328042|PMID:19401371|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19446900|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19875478|PMID:19882644|PMID:19933576|PMID:2007407|PMID:20074070|PMID:20127487|PMID:20130076|PMID:20155465|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20576434|PMID:20580717|PMID:20590677|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21179469|PMID:21251803|PMID:21315846|PMID:21346069|PMID:21400569|PMID:21462202|PMID:21479595|PMID:21483645|PMID:21520333|PMID:21535365|PMID:21632249|PMID:21689390|PMID:21738662|PMID:21818408|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21883346|PMID:21945321|PMID:21970986|PMID:21980471|PMID:21989830|PMID:22068161|PMID:22071332|PMID:22103509|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22337857|PMID:22355414|PMID:22413764|PMID:22431096|PMID:22464770|PMID:22526018|PMID:22549407|PMID:22570643|PMID:22611635|PMID:22685055|PMID:2270059|PMID:22700598|PMID:22761994|PMID:22806367|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23062543|PMID:23077635|PMID:23141186|PMID:23142632|PMID:23150259|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286 8719462 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:23328570|PMID:23349452|PMID:23360689|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23483212|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23701190|PMID:23702046|PMID:23757202|PMID:23775434|PMID:23783098|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24037902|PMID:24055113|PMID:24058181|PMID:24080738|PMID:24108105|PMID:24169522|PMID:24237251|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24459210|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24846508|PMID:24861648|PMID:24915601|PMID:24943589|PMID:24990833|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25274841|PMID:25286833|PMID:25319090|PMID:25324471|PMID:25343322|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25569433|PMID:25617006|PMID:25637381|PMID:25656816|PMID:25741868|PMID:25793944|PMID:25819867|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:26027246|PMID:26084686|PMID:26098624|PMID:26183555|PMID:26199943|PMID:26220970|PMID:262236|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26392352|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26573435|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26670336|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26743238|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26900797|PMID:26976018|PMID:27000522|PMID:27111165|PMID:27153395|PMID:27182706|PMID:27199538|PMID:27220833|PMID:27235420|PMID:2733290|PMID:27332903|PMID:27363342|PMID:27374873|PMID:27405450|PMID:27421120|PMID:27447704|PMID:27498076|PMID:27504462|PMID:27506821|PMID:27529282|PMID:2753225|PMID:27532257|PMID:27585670|PMID:27595935|PMID:27600705|PMID:27633507|PMID:27650965|PMID:27697855|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841901|PMID:27841971|PMID:27845687|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28082330|PMID:28087566|PMID:28118183|PMID:28123761|PMID:28125586|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28341588|PMID:28349240|PMID:28416588|PMID:28425981|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28620495|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:28987496|PMID:29057633|PMID:29078011|PMID:29095976|PMID:29121657|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29247119|PMID:29253866|PMID:29255176|PMID:29367541|PMID:29382405|PMID:29386531|PMID:29431110|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29540472|PMID:29551499|PMID:29557732|PMID:29618840|PMID:29620724|PMID:29676528|PMID:29693488|PMID:29709087|PMID:29753763|PMID:29773157|PMID:29791652|PMID:29892087|PMID:29893365|PMID:29895224|PMID:29907918|PMID:29943882|PMID:29947763|PMID:29952368|PMID:29961767|PMID:29970176|PMID:30007954|PMID:30008018|PMID:30012837|PMID:30055862|PMID:30078822|PMID:30107846|PMID:30122538|PMID:30137533|PMID:30165155|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30199159|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30429050|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30595509|PMID:30739589|PMID:30765282|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30919684|PMID:31006814|PMID:31019283|PMID:31127727|PMID:31194872|PMID:31208058|PMID:31264968|PMID:31296869|PMID:31303467|PMID:31317183|PMID:31378009|PMID:31383942|PMID:31402444|PMID:31410651|PMID:31428229|PMID:31447099|PMID:31453089|PMID:31476771|PMID:31498906|PMID:31514951|PMID:31521807|PMID:31525256|PMID:31527676|PMID:31744510|PMID:31794942|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31931689|PMID:31957533 8719462 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32021920|PMID:32041611|PMID:32041989|PMID:32083564|PMID:32155092|PMID:32160020|PMID:32193531|PMID:32297714|PMID:32376792|PMID:32413188|PMID:32455078|PMID:32456328|PMID:32458740|PMID:32461654|PMID:32508047|PMID:32517491|PMID:32528171|PMID:32571898|PMID:32616434|PMID:32666643|PMID:32685188|PMID:32695585|PMID:32698523|PMID:32727917|PMID:32746448|PMID:32789579|PMID:32789750|PMID:32792077|PMID:32793522|PMID:32818388|PMID:32826072|PMID:32846814|PMID:32880476|PMID:32913962|PMID:32939435|PMID:32943904|PMID:33029862|PMID:33038109|PMID:33070394|PMID:33258288|PMID:33304817|PMID:33407844|PMID:33422685|PMID:33458588|PMID:33500567|PMID:33502018|PMID:33673806|PMID:33713793|PMID:33803191|PMID:33803652|PMID:33824984|PMID:33887581|PMID:33893211|PMID:33916827|PMID:33963534|PMID:34011823|PMID:34135346|PMID:34213952|PMID:34240052|PMID:34292171|PMID:34317510|PMID:34340952|PMID:34363016|PMID:34461741|PMID:34495297|PMID:34621001|PMID:34638534|PMID:34680903|PMID:34720847|PMID:34768595|PMID:34773379|PMID:34788595|PMID:34808346|PMID:34862408|PMID:34865644|PMID:34935411|PMID:34954454|PMID:34975533|PMID:34999423|PMID:35026164|PMID:35239206|PMID:35284542|PMID:35288587|PMID:35291351|PMID:35384599|PMID:35387801|PMID:35434999|PMID:35449878|PMID:35470680|PMID:35470684|PMID:35526016|PMID:35528128|PMID:35533453|PMID:35535697|PMID:35581137|PMID:35653365|PMID:35772917|PMID:35887646|PMID:35898701|PMID:36111332|PMID:36178741|PMID:36253810|PMID:36264615|PMID:36267857|PMID:36282542|PMID:36293084|PMID:36352512|PMID:36397776|PMID:36548481|PMID:36646731|PMID:36704457|PMID:36732629|PMID:36971006|PMID:37178278|PMID:37246508|PMID:37387251|PMID:37589201|PMID:37652022|PMID:37679847|PMID:37685926|PMID:37904629|PMID:38048861|PMID:38247853|PMID:38473809|PMID:38489124|PMID:38691546|PMID:38837338|PMID:38979608|PMID:4740717|PMID:8344919|PMID:8619549|PMID:8621584|PMID:9106535|PMID:9500556|PMID:9536098 8719462 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10908904|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102526|PMID:11102973|PMID:11136544|PMID:11138304|PMID:11180602|PMID:11231979|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12376891|PMID:12467734|PMID:12467752|PMID:12486434|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12716787|PMID:12768443|PMID:12783988|PMID:12788894|PMID:12854972|PMID:12920062|PMID:12927424|PMID:12927431|PMID:12938084|PMID:13129702|PMID:14510863|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:14985400|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15184648|PMID:15219508|PMID:15286156|PMID:15298354|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15473259|PMID:15475483|PMID:15531479|PMID:15539782|PMID:15678000|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15832002|PMID:15843404|PMID:15965218|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16046620|PMID:16061563|PMID:16126733|PMID:16156025|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16459536|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16705075|PMID:16715312|PMID:16738054|PMID:16772334|PMID:16809772|PMID:16825282|PMID:16965317|PMID:16990647|PMID:17107595|PMID:17136397|PMID:17250669|PMID:17250699|PMID:17274801|PMID:17325275|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17599607|PMID:17605093|PMID:17612587|PMID:17711925|PMID:17760566|PMID:17848409|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18035816|PMID:18041775|PMID:18337098|PMID:18348272|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18538321|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18796515|PMID:18808171|PMID:18816602|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19084400|PMID:19167105|PMID:19172989|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19328042|PMID:19401371|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19446900|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19875478|PMID:19882644|PMID:19933576|PMID:2007407|PMID:20074070|PMID:20127487|PMID:20130076|PMID:20155465|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20576434|PMID:20580717|PMID:20590677|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21179469|PMID:21251803|PMID:21315846|PMID:21346069|PMID:21400569|PMID:21462202|PMID:21465660|PMID:21479595|PMID:21483645|PMID:21520333|PMID:21535365|PMID:21632249|PMID:21689390|PMID:21738662|PMID:21818408|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21883346|PMID:21945321|PMID:21970986|PMID:21980471|PMID:21989830|PMID:22068161|PMID:22071332|PMID:22103509|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22337857|PMID:22355414|PMID:22413764|PMID:22431096|PMID:22464770|PMID:22526018|PMID:22549407|PMID:22570643|PMID:22611635|PMID:22685055|PMID:2270059|PMID:22700598|PMID:22761994|PMID:22806367|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23062543|PMID:23077635|PMID:23141186|PMID:23142632|PMID:23150259|PMID:23183350|PMID:23217256|PMID:23299917 8719462 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:23313286|PMID:23328570|PMID:23349452|PMID:23360689|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23483212|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23701190|PMID:23702046|PMID:23757202|PMID:23775434|PMID:23783098|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24037902|PMID:24055113|PMID:24058181|PMID:24080738|PMID:24108105|PMID:24169522|PMID:24237251|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24459210|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24846508|PMID:24861648|PMID:24915601|PMID:24943589|PMID:24990833|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25274841|PMID:25286833|PMID:25319090|PMID:25324471|PMID:25343322|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25569433|PMID:25617006|PMID:25637381|PMID:25656816|PMID:25741868|PMID:25793944|PMID:25819867|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:26027246|PMID:26084686|PMID:26098624|PMID:26183555|PMID:26199943|PMID:26220970|PMID:262236|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26392352|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26573435|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26670336|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26743238|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26900797|PMID:26976018|PMID:27000522|PMID:27111165|PMID:27153395|PMID:27182706|PMID:27199538|PMID:27220833|PMID:27235420|PMID:2733290|PMID:27332903|PMID:27363342|PMID:27374873|PMID:27405450|PMID:27421120|PMID:27447704|PMID:27498076|PMID:27504462|PMID:27506821|PMID:27529282|PMID:2753225|PMID:27532257|PMID:27585670|PMID:27595935|PMID:27600705|PMID:27633507|PMID:27650965|PMID:27697855|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841901|PMID:27841971|PMID:27845687|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28082330|PMID:28087566|PMID:28118183|PMID:28123761|PMID:28125586|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28341588|PMID:28349240|PMID:28416588|PMID:28425981|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28620495|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:28987496|PMID:29057633|PMID:29078011|PMID:29095976|PMID:29121657|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29247119|PMID:29253866|PMID:29255176|PMID:29367541|PMID:29382405|PMID:29386531|PMID:29431110|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29540472|PMID:29551499|PMID:29557732|PMID:29618840|PMID:29620724|PMID:29676528|PMID:29693488|PMID:29709087|PMID:29753763|PMID:29773157|PMID:29791652|PMID:29892087|PMID:29893365|PMID:29895224|PMID:29907918|PMID:29943882|PMID:29947763|PMID:29952368|PMID:29961767|PMID:29970176|PMID:30007954|PMID:30008018|PMID:30012837|PMID:30055862|PMID:30078822|PMID:30107846|PMID:30122538|PMID:30137533|PMID:30165155|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30199159|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30429050|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30595509|PMID:30615648|PMID:30665423|PMID:30739589|PMID:30765282|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30919684|PMID:31006814|PMID:31019283|PMID:31127727|PMID:31194872|PMID:31208058|PMID:31264968|PMID:31296869|PMID:31303467|PMID:31317183|PMID:31378009|PMID:31383942|PMID:31402444|PMID:31410651|PMID:31428229|PMID:31447099|PMID:31453089|PMID:31476771|PMID:31498906|PMID:31514951|PMID:31521807|PMID:31525256|PMID:31527676|PMID:31744510|PMID:31794942|PMID:31829210|PMID:31836692 8719462 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:31857427|PMID:31931689|PMID:31957533|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32021920|PMID:32041611|PMID:32041989|PMID:32083564|PMID:32155092|PMID:32160020|PMID:32193531|PMID:32297714|PMID:32376792|PMID:32413188|PMID:32455078|PMID:32456328|PMID:32458740|PMID:32461654|PMID:32508047|PMID:32517491|PMID:32528171|PMID:32571898|PMID:32616434|PMID:32657593|PMID:32666643|PMID:32685188|PMID:32695585|PMID:32698523|PMID:32727917|PMID:32746448|PMID:32789579|PMID:32789750|PMID:32792077|PMID:32793522|PMID:32818388|PMID:32826072|PMID:32846814|PMID:32880476|PMID:32913962|PMID:32939435|PMID:32943904|PMID:33029862|PMID:33038109|PMID:33070394|PMID:33258288|PMID:33304817|PMID:33407844|PMID:33422685|PMID:33458588|PMID:33500567|PMID:33502018|PMID:33673806|PMID:33713793|PMID:33803191|PMID:33803652|PMID:33824984|PMID:33887581|PMID:33893211|PMID:33916827|PMID:33963534|PMID:34011823|PMID:34135346|PMID:34213952|PMID:34240052|PMID:34292171|PMID:34317510|PMID:34340952|PMID:34363016|PMID:34461741|PMID:34495297|PMID:34621001|PMID:34638534|PMID:34680903|PMID:34720847|PMID:34768595|PMID:34773379|PMID:34788595|PMID:34808346|PMID:34862408|PMID:34865644|PMID:34935411|PMID:34954454|PMID:34975533|PMID:34999423|PMID:35026164|PMID:35239206|PMID:35284542|PMID:35288587|PMID:35291351|PMID:35384599|PMID:35387801|PMID:35434999|PMID:35449878|PMID:35470680|PMID:35470684|PMID:35526016|PMID:35528128|PMID:35533453|PMID:35535697|PMID:35581137|PMID:35653365|PMID:35772917|PMID:35887646|PMID:35898701|PMID:36111332|PMID:36178741|PMID:36253810|PMID:36264615|PMID:36267857|PMID:36282542|PMID:36293084|PMID:36325899|PMID:36352512|PMID:36397776|PMID:36526864|PMID:36548481|PMID:36646731|PMID:36704457|PMID:36732629|PMID:36788754|PMID:36971006|PMID:37178278|PMID:37246508|PMID:37387251|PMID:37589201|PMID:37652022|PMID:37679847|PMID:37685926|PMID:37904629|PMID:38048861|PMID:38247853|PMID:38254962|PMID:38374194|PMID:38473809|PMID:38489124|PMID:38630155|PMID:38691546|PMID:38837338|PMID:38979608|PMID:39825153|PMID:4740717|PMID:8344919|PMID:8619549|PMID:8621584|PMID:9106535|PMID:9500556|PMID:9536098 8719462 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy severity ISO RGD:732790 D RGD:9068941 20200609 RGD DNA:missense mutations, deletion:cds:multiple (human) PMID:12628721|REF_RGD_ID:1580515 8719462 Lmna lamin A/C gene DOID:13884 sick sinus syndrome ISO RGD:732790 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Sick sinus syndrome PMID:25741868|PMID:27182706|PMID:29947763|PMID:31847799|PMID:34831398 8719462 Lmna lamin A/C gene DOID:1389 polyneuropathy ISO RGD:732790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polyneuropathy 8719462 Lmna lamin A/C gene DOID:1540 parathyroid carcinoma ISO RGD:732790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8719462 Lmna lamin A/C gene DOID:224 transient cerebral ischemia ISO RGD:620456 D RGD:9068941 20200609 RGD PMID:17683050|REF_RGD_ID:2293745 8719462 Lmna lamin A/C gene DOID:2349 arteriosclerosis ISO RGD:620456 D RGD:9068941 20200609 RGD protein:increased expression:aorta PMID:16620292|REF_RGD_ID:2302364 8719462 Lmna lamin A/C gene DOID:2843 long QT syndrome ISO RGD:732790 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10580070|PMID:11102973|PMID:12920062|PMID:17334235|PMID:18414213|PMID:18795223|PMID:18926329|PMID:19318026|PMID:23701190|PMID:24386194|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28686329|PMID:29237675|PMID:29432544|PMID:29952368|PMID:32818388|PMID:33407844 8719462 Lmna lamin A/C gene DOID:2843 long QT syndrome ISO RGD:732790 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10580070|PMID:11102973|PMID:12920062|PMID:17334235|PMID:18414213|PMID:18795223|PMID:18926329|PMID:19318026|PMID:21179469|PMID:23701190|PMID:24386194|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28686329|PMID:29237675|PMID:29432544|PMID:29952368|PMID:31402444|PMID:31514951|PMID:32021920|PMID:32083564|PMID:32818388|PMID:32880476|PMID:33407844|PMID:34768595|PMID:35887646 8719462 Lmna lamin A/C gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:732790 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:25741868|PMID:28492532|PMID:28663758|PMID:31383942 8719462 Lmna lamin A/C gene DOID:3910 lung adenocarcinoma ISO RGD:732790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19381893 8719462 Lmna lamin A/C gene DOID:3911 progeria ISO RGD:732790 D RGD:7240710 20180130 OMIM 8719462 Lmna lamin A/C gene DOID:3911 progeria ISO RGD:732790 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hutchinson-Gilford progeria syndrome, atypical | ClinVar Annotator: match by term: Hutchinson-Gilford syndrome PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11792809|PMID:11799477|PMID:11897440|PMID:11901143|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12376891|PMID:12467734|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12716787|PMID:12768443|PMID:12788894|PMID:12920062|PMID:12927424|PMID:12927431|PMID:12938084|PMID:13129702|PMID:14510863|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15121795|PMID:15140538|PMID:15184648|PMID:15298354|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15473259|PMID:15475483|PMID:15531479|PMID:15678000|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15843404|PMID:15965218|PMID:15982412|PMID:15998779|PMID:16046620|PMID:16061563|PMID:16126733|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16440304|PMID:16459536|PMID:16584978|PMID:16585054|PMID:16671095|PMID:16705075|PMID:16715312|PMID:16738054|PMID:16809772|PMID:16965317|PMID:17107595|PMID:17136397|PMID:17250669|PMID:17250699|PMID:17274801|PMID:17325275|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17612587|PMID:17711925|PMID:17760566|PMID:17848409|PMID:17893350|PMID:17987279|PMID:18035086|PMID:18348272|PMID:18396274|PMID:18414213|PMID:18478590|PMID:1849984|PMID:18549403|PMID:18551513|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18728124|PMID:18795223|PMID:18796515|PMID:18808171|PMID:18926329|PMID:19011997|PMID:19084400|PMID:19172989|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19446900|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19875478|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20376791|PMID:20497714|PMID:20580717|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21173262|PMID:21251803|PMID:21400569|PMID:21465660|PMID:21479595|PMID:21520333|PMID:21632249|PMID:21738662|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22065502|PMID:22068161|PMID:22071332|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22355414|PMID:22419169|PMID:22431096|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22611635|PMID:22685055|PMID:22700598|PMID:22761994|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23062543|PMID:23141186|PMID:23142632|PMID:23183350|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23659872|PMID:23666920|PMID:23702046|PMID:23783098|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24305605|PMID:24375749|PMID:24459210|PMID:24503780|PMID:24623722|PMID:24639906|PMID:24642510|PMID:24687084|PMID:24721642|PMID:24794538|PMID:24846508|PMID:24861648|PMID:24915601|PMID:24943589|PMID:24990833|PMID:25025039|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25326635|PMID:25351510|PMID:25371241|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25617006|PMID:25637381|PMID:25649378|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25946677|PMID:25982065|PMID:26027246 8719462 Lmna lamin A/C gene DOID:3911 progeria ISO RGD:732790 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hutchinson-Gilford progeria syndrome, atypical | ClinVar Annotator: match by term: Hutchinson-Gilford syndrome PMID:26084686|PMID:26165385|PMID:262236|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26392352|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26498160|PMID:26573435|PMID:26602028|PMID:26662654|PMID:26670336|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26743238|PMID:26756202|PMID:26899768|PMID:26900797|PMID:26976018|PMID:27000522|PMID:27153395|PMID:27182706|PMID:27199538|PMID:27220833|PMID:2733290|PMID:27332903|PMID:27334370|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27498076|PMID:27504462|PMID:27506821|PMID:27529282|PMID:27532257|PMID:27585670|PMID:27600705|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27845687|PMID:27854218|PMID:27884249|PMID:27896052|PMID:27896284|PMID:27919367|PMID:27920058|PMID:28074886|PMID:28082330|PMID:28087566|PMID:28255936|PMID:28341588|PMID:28349240|PMID:28416588|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:29040816|PMID:29095976|PMID:29121657|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29253866|PMID:29255176|PMID:29431110|PMID:29438482|PMID:29540472|PMID:29551499|PMID:29557732|PMID:29620724|PMID:29693488|PMID:29709087|PMID:29773157|PMID:29791652|PMID:29892087|PMID:29895224|PMID:29943882|PMID:29952368|PMID:29961767|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30055862|PMID:30107846|PMID:30122538|PMID:30137533|PMID:30165155|PMID:30165862|PMID:30177912|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30429050|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30595509|PMID:30615648|PMID:30665423|PMID:30739589|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30919684|PMID:31006814|PMID:31019283|PMID:31038196|PMID:31194872|PMID:31303467|PMID:31383942|PMID:31428229|PMID:31447099|PMID:31476771|PMID:31498906|PMID:31514951|PMID:31521807|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31931689|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32193531|PMID:32297714|PMID:32376792|PMID:32413188|PMID:32455078|PMID:32456328|PMID:32461654|PMID:32508047|PMID:32616434|PMID:32666643|PMID:32685188|PMID:32698523|PMID:32727917|PMID:32746448|PMID:32792077|PMID:32793522|PMID:32818388|PMID:32826072|PMID:32880476|PMID:32943904|PMID:33038109|PMID:33258288|PMID:33304817|PMID:33407844|PMID:33422685|PMID:33458588|PMID:33502018|PMID:33673806|PMID:33713793|PMID:33803191|PMID:33803652|PMID:33887581|PMID:33893211|PMID:33916827|PMID:33963534|PMID:34011823|PMID:34135346|PMID:34240052|PMID:34340952|PMID:34363016|PMID:34495297|PMID:34680903|PMID:34720847|PMID:34768595|PMID:34788595|PMID:34808346|PMID:34862408|PMID:34865644|PMID:34975533|PMID:34999423|PMID:35026164|PMID:35291351|PMID:35449878|PMID:35526016|PMID:35533453|PMID:35535697|PMID:35772917|PMID:35898701|PMID:36264615|PMID:36267857|PMID:36293084|PMID:36397776|PMID:36646731|PMID:36704457|PMID:36788754|PMID:36971006|PMID:37246508|PMID:37589201|PMID:37652022|PMID:37679847|PMID:37685926|PMID:37904629|PMID:38247853|PMID:38254962|PMID:38473809|PMID:38489124|PMID:38630155|PMID:38691546|PMID:4740717|PMID:8619549|PMID:9106535|PMID:9500556|PMID:9536098 8719462 Lmna lamin A/C gene DOID:440 neuromuscular disease ISO RGD:732790 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Neuromuscular disease | ClinVar Annotator: match by term: Neuromuscular disorder PMID:13129702|PMID:15678000|PMID:16199547|PMID:17377071|PMID:18585512|PMID:18926329|PMID:19446900|PMID:22068161|PMID:24033266|PMID:24459210|PMID:24503780|PMID:24915601|PMID:25741868|PMID:27506821|PMID:28492532|PMID:28679633|PMID:28798025|PMID:29693488|PMID:31744510|PMID:31931689|PMID:33304817|PMID:34768595|PMID:35434999|PMID:38979608 8719462 Lmna lamin A/C gene DOID:5688 Werner syndrome ISO RGD:732790 D RGD:9068941 20200609 RGD atypical;DNA:missense mutations:cds:p.A57P, p.R133L, p.L140R (human) PMID:12927431|REF_RGD_ID:12791031 8719462 Lmna lamin A/C gene DOID:574 peripheral nervous system disease ISO RGD:732790 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:19589617|PMID:22918509|PMID:23183350|PMID:24033266|PMID:25741868|PMID:26332594|PMID:26467025|PMID:27498076|PMID:27529282|PMID:27919367|PMID:28074886|PMID:28255936|PMID:28492532|PMID:28663758|PMID:29237675|PMID:29253866|PMID:29557732|PMID:29791652|PMID:30420677|PMID:30847666|PMID:31383942|PMID:31857427|PMID:32041611|PMID:32616434|PMID:32685188|PMID:33713793|PMID:33803191|PMID:35449878|PMID:35772917|PMID:36548481 8719462 Lmna lamin A/C gene DOID:5812 MHC class II deficiency ISO RGD:732790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8719462 Lmna lamin A/C gene DOID:630 genetic disease ISO RGD:732790 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10908904|PMID:12920062|PMID:15060110|PMID:16218190|PMID:19169477|PMID:20848652|PMID:22700598|PMID:24033266|PMID:24503780|PMID:25741868|PMID:27532257|PMID:28492532 8719462 Lmna lamin A/C gene DOID:6713 cerebrovascular disease ISO RGD:732790 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:cds:1908C>T (human) PMID:16117820|REF_RGD_ID:2306095 8719462 Lmna lamin A/C gene DOID:811 lipodystrophy ISO RGD:732790 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Lipodystrophy PMID:12920062|PMID:15060110|PMID:19095983|PMID:19169477|PMID:19589617|PMID:22700598|PMID:22918509|PMID:23183350|PMID:23666920|PMID:24033266|PMID:25327215|PMID:25741868|PMID:26332594|PMID:26467025|PMID:27498076|PMID:27529282|PMID:27919367|PMID:28074886|PMID:28255936|PMID:28492532|PMID:28663758|PMID:29047356|PMID:29253866|PMID:29557732|PMID:29791652|PMID:30123186|PMID:30420677|PMID:30696354|PMID:30847666|PMID:31383942|PMID:31857427|PMID:32041611|PMID:32548202|PMID:32616434|PMID:32685188|PMID:32954377|PMID:33713793|PMID:33803191|PMID:35449878|PMID:35772917 8719462 Lmna lamin A/C gene DOID:8472 localized scleroderma ISO RGD:732790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15726408 8719462 Lmna lamin A/C gene DOID:870 neuropathy ISO RGD:732790 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Autosomal recessive axonal hereditary motor and sensory neuropathy | ClinVar Annotator: match by term: Neuropathy | ClinVar Annotator: match by term: Peripheral neuropathy PMID:11799477|PMID:12467734|PMID:14607793|PMID:17274801|PMID:17347251|PMID:17377071|PMID:17536044|PMID:17711925|PMID:17760566|PMID:18549403|PMID:19589617|PMID:22331516|PMID:22918509|PMID:23183350|PMID:24033266|PMID:25741868|PMID:26332594|PMID:26467025|PMID:27498076|PMID:27529282|PMID:27919367|PMID:28074886|PMID:28255936|PMID:28492532|PMID:28663758|PMID:29237675|PMID:29253866|PMID:29557732|PMID:29791652|PMID:30340945|PMID:30420677|PMID:30847666|PMID:31383942|PMID:31857427|PMID:32041611|PMID:32616434|PMID:32685188|PMID:32792077|PMID:33713793|PMID:33803191|PMID:34862408|PMID:35449878|PMID:35772917|PMID:36548481 8719462 Lmna lamin A/C gene DOID:9000064 Cardiac Arrhythmias ISO RGD:732791 D RGD:9068941 20200609 RGD PMID:18182166|REF_RGD_ID:2306092 8719462 Lmna lamin A/C gene DOID:9000067 Congenital Foot Deformities ISO RGD:732790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15996213 8719462 Lmna lamin A/C gene DOID:9000488 Progeria Syndrome, Childhood-Onset ISO RGD:732790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hutchinson-Gilford progeria syndrome, childhood-onset PMID:11015599|PMID:11503164|PMID:11792811|PMID:12629077|PMID:12927431|PMID:14615128|PMID:16174718|PMID:26724531|PMID:28492532|PMID:31293201 8719462 Lmna lamin A/C gene DOID:9000652 Cardiac Conduction Disease with or without Dilated Cardiomyopathy ISO RGD:732790 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:multiple (human) PMID:10580070|REF_RGD_ID:11066902 8719462 Lmna lamin A/C gene DOID:9000808 Hypercholesterolemia ISO RGD:732790 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hypercholesterolaemia PMID:19589617|PMID:22918509|PMID:23183350|PMID:24033266|PMID:25741868|PMID:26332594|PMID:26467025|PMID:27498076|PMID:27529282|PMID:27919367|PMID:28074886|PMID:28255936|PMID:28492532|PMID:28663758|PMID:29253866|PMID:29557732|PMID:29791652|PMID:30420677|PMID:30847666|PMID:31383942|PMID:31857427|PMID:32041611|PMID:32616434|PMID:32685188|PMID:33713793|PMID:33803191|PMID:35449878|PMID:35772917 8719462 Lmna lamin A/C gene DOID:9001502 Congenital Microtia ISO RGD:732790 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Microtia PMID:19589617|PMID:22918509|PMID:23183350|PMID:24033266|PMID:25741868|PMID:26332594|PMID:26467025|PMID:27498076|PMID:27529282|PMID:27919367|PMID:28074886|PMID:28255936|PMID:28492532|PMID:28663758|PMID:29253866|PMID:29557732|PMID:29791652|PMID:30420677|PMID:30847666|PMID:31383942|PMID:31857427|PMID:32041611|PMID:32616434|PMID:32685188|PMID:33713793|PMID:33803191|PMID:35449878|PMID:35772917 8719462 Lmna lamin A/C gene DOID:9001550 Bethlem Myopathy 1A ISO RGD:732790 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1A PMID:20848652|PMID:25741868|PMID:32524016 8719462 Lmna lamin A/C gene DOID:9001751 Insulin-Resistant Diabetes Mellitus, with Acanthosis Nigricans ISO RGD:732790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: IRAN, TYPE A PMID:15919811|PMID:16478798|PMID:20848652|PMID:23785128|PMID:24033266|PMID:25637381|PMID:25741868|PMID:28492532 8719462 Lmna lamin A/C gene DOID:9002165 Diabetic Nephropathies ISO RGD:732790 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:cds:1908C>T (human) PMID:16117820|REF_RGD_ID:2306095 8719462 Lmna lamin A/C gene DOID:9003163 Heart Block ISO RGD:732790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15996213 8719462 Lmna lamin A/C gene DOID:9003205 Heart-Hand Syndrome, Slovenian Type ISO RGD:732790 D RGD:7240710 20180130 OMIM 8719462 Lmna lamin A/C gene DOID:9003205 Heart-Hand Syndrome, Slovenian Type ISO RGD:732790 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Heart-hand syndrome, Slovenian type PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11344241|PMID:11503164|PMID:11792809|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12075506|PMID:12376891|PMID:12467734|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12702809|PMID:12716787|PMID:12788894|PMID:12920062|PMID:12927424|PMID:12927431|PMID:12938084|PMID:13129702|PMID:14510863|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14684700|PMID:14749366|PMID:15053843|PMID:15060110|PMID:15298354|PMID:15372542|PMID:15473259|PMID:15475483|PMID:15531479|PMID:15678000|PMID:15744034|PMID:15770669|PMID:15843404|PMID:15965218|PMID:15996213|PMID:16046620|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16459536|PMID:16584978|PMID:16585054|PMID:16671095|PMID:16705075|PMID:16715312|PMID:16809772|PMID:17107595|PMID:17136397|PMID:17250669|PMID:17250699|PMID:17274801|PMID:17325275|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17612587|PMID:17711925|PMID:17760566|PMID:17848409|PMID:17893350|PMID:17987279|PMID:18035086|PMID:18348272|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551513|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18611980|PMID:18646565|PMID:18728124|PMID:18795223|PMID:18808171|PMID:18926329|PMID:19011997|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19446900|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19764019|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19875478|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20307303|PMID:20497714|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21346069|PMID:21400569|PMID:21479595|PMID:21520333|PMID:21632249|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22068161|PMID:22071332|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22355414|PMID:22431096|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22700598|PMID:22761994|PMID:22883396|PMID:22918509|PMID:23062543|PMID:23142632|PMID:23183350|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23427149|PMID:23582089|PMID:23702046|PMID:23783098|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24058181|PMID:24108105|PMID:24375749|PMID:24459210|PMID:24503780|PMID:24623722|PMID:24794538|PMID:24846508|PMID:24861648|PMID:24915601|PMID:24943589|PMID:24990833|PMID:25025039|PMID:25163546|PMID:25210889|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25371241|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25819867|PMID:25823658|PMID:25873806|PMID:25885670|PMID:26027246|PMID:26084686|PMID:262236|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26498160|PMID:26573435|PMID:26662654|PMID:26724531|PMID:26733286|PMID:26743238|PMID:26756202|PMID:26899768|PMID:26900797|PMID:26976018|PMID:27000522|PMID:27153395|PMID:27182706|PMID:27220833|PMID:2733290|PMID:27332903|PMID:27421120|PMID:27447704|PMID:27498076|PMID:27504462|PMID:27506821|PMID:27529282|PMID:27532257|PMID:27585670|PMID:27600705|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27845687|PMID:27884249|PMID:27896284|PMID:27919367|PMID:28074886|PMID:28082330|PMID:28087566|PMID:28255936|PMID:28341588|PMID:28349240|PMID:28416588|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28790152|PMID:28807990|PMID:28874324|PMID:28878402|PMID:29095976|PMID:29121657|PMID:29149195 8719462 Lmna lamin A/C gene DOID:9003205 Heart-Hand Syndrome, Slovenian Type ISO RGD:732790 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Heart-hand syndrome, Slovenian type PMID:29237675|PMID:29237690|PMID:29253866|PMID:29255176|PMID:29431110|PMID:29438482|PMID:29540472|PMID:29551499|PMID:29557732|PMID:29620724|PMID:29693488|PMID:29709087|PMID:29773157|PMID:29791652|PMID:29892087|PMID:29895224|PMID:29943882|PMID:29952368|PMID:29961767|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30055862|PMID:30122538|PMID:30137533|PMID:30165155|PMID:30165862|PMID:30177912|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30429050|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30595509|PMID:30615648|PMID:30665423|PMID:30739589|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30919684|PMID:31019283|PMID:31194872|PMID:31303467|PMID:31383942|PMID:31428229|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31521807|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31931689|PMID:31977013|PMID:31980526|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32193531|PMID:32376792|PMID:32413188|PMID:32456328|PMID:32461654|PMID:32508047|PMID:32616434|PMID:32685188|PMID:32698523|PMID:32727917|PMID:32746448|PMID:32792077|PMID:32793522|PMID:32818388|PMID:32826072|PMID:32880476|PMID:33038109|PMID:33258288|PMID:33304817|PMID:33407844|PMID:33422685|PMID:33458588|PMID:33502018|PMID:33673806|PMID:33713793|PMID:33803191|PMID:33803652|PMID:33887581|PMID:33893211|PMID:33916827|PMID:33963534|PMID:34011823|PMID:34135346|PMID:34240052|PMID:34292171|PMID:34340952|PMID:34363016|PMID:34495297|PMID:34680903|PMID:34720847|PMID:34768595|PMID:34788595|PMID:34808346|PMID:34862408|PMID:34865644|PMID:34975533|PMID:34999423|PMID:35026164|PMID:35291351|PMID:35449878|PMID:35526016|PMID:35528128|PMID:35535697|PMID:35772917|PMID:35898701|PMID:36264615|PMID:36267857|PMID:36293084|PMID:36397776|PMID:36646731|PMID:36704457|PMID:36788754|PMID:36971006|PMID:37246508|PMID:37589201|PMID:37652022|PMID:37679847|PMID:37685926|PMID:37904629|PMID:38247853|PMID:38254962|PMID:38473809|PMID:38489124|PMID:38630155|PMID:38691546|PMID:39825153|PMID:4740717|PMID:8619549|PMID:9106535|PMID:9500556|PMID:9536098 8719462 Lmna lamin A/C gene DOID:9003846 Sinoatrial Block ISO RGD:732790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15996213 8719462 Lmna lamin A/C gene DOID:9004416 Paroxysmal Ventricular Fibrillation ISO RGD:732790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Paroxysmal familial ventricular fibrillation PMID:23703017|PMID:25256213|PMID:25481314|PMID:28492532 8719462 Lmna lamin A/C gene DOID:9004795 Congenital Hand Deformities ISO RGD:732790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15996213 8719462 Lmna lamin A/C gene DOID:9005141 Ventricular Tachycardia ISO RGD:732790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15996213 8719462 Lmna lamin A/C gene DOID:9006138 Laminopathies ISO RGD:732790 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Laminopathies | ClinVar Annotator: match by term: Laminopathy PMID:10580070|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11136544|PMID:11503164|PMID:11792809|PMID:12032588|PMID:12524233|PMID:12647844|PMID:12927424|PMID:14675861|PMID:14684700|PMID:15219508|PMID:15372542|PMID:15724423|PMID:15965218|PMID:16061563|PMID:16181372|PMID:16364671|PMID:16415042|PMID:17377071|PMID:17893350|PMID:18031519|PMID:18035086|PMID:18551513|PMID:18564364|PMID:18728124|PMID:19011997|PMID:19167105|PMID:19201734|PMID:19418082|PMID:19859838|PMID:2007407|PMID:20074070|PMID:20130076|PMID:20301609|PMID:20301717|PMID:20625965|PMID:20848652|PMID:20886652|PMID:21085127|PMID:21632249|PMID:22186027|PMID:22224630|PMID:22266370|PMID:22464770|PMID:2270059|PMID:22700598|PMID:23183350|PMID:23313286|PMID:23349452|PMID:23427149|PMID:23483212|PMID:23853504|PMID:24033266|PMID:24080738|PMID:24375749|PMID:24503780|PMID:24508248|PMID:24623722|PMID:24656463|PMID:24806962|PMID:24846508|PMID:25163546|PMID:25637381|PMID:25741868|PMID:26098624|PMID:26467025|PMID:26662654|PMID:26743238|PMID:27506821|PMID:27529282|PMID:27532257|PMID:27585670|PMID:27723096|PMID:27813223|PMID:27884249|PMID:28492532|PMID:28620495|PMID:28641778|PMID:28679633|PMID:28686329|PMID:28790152|PMID:28878402|PMID:29149195|PMID:29237675|PMID:29709087|PMID:29892087|PMID:29893365|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30078822|PMID:30165155|PMID:30165862|PMID:30199159|PMID:30287275|PMID:30420677|PMID:30528549|PMID:30615648|PMID:30739589|PMID:30847666|PMID:30871747|PMID:31194872|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31521807|PMID:31794942|PMID:31829210|PMID:31836692|PMID:32041611|PMID:32155092|PMID:32376792|PMID:32413188|PMID:32517491|PMID:32666643|PMID:32880476|PMID:32913962|PMID:32939435|PMID:33502018|PMID:33673806|PMID:33803652|PMID:33887581|PMID:34340952|PMID:34495297|PMID:34768595|PMID:34808346|PMID:34865644|PMID:34975533|PMID:35291351|PMID:35384599|PMID:36282542|PMID:36397776|PMID:36971006|PMID:37679847|PMID:8344919 8719462 Lmna lamin A/C gene DOID:9006646 Metabolic Syndrome ISO RGD:732790 D RGD:9068941 20200609 RGD DNA:SNP: :c.138747C>T (human) PMID:15205219|REF_RGD_ID:2306121 8719462 Lmna lamin A/C gene DOID:9007661 Dwarfism ISO RGD:732790 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Short stature PMID:19589617|PMID:22918509|PMID:23183350|PMID:24033266|PMID:25741868|PMID:26332594|PMID:26467025|PMID:27498076|PMID:27529282|PMID:27919367|PMID:28074886|PMID:28255936|PMID:28492532|PMID:28663758|PMID:29253866|PMID:29557732|PMID:29791652|PMID:30420677|PMID:30847666|PMID:31383942|PMID:31857427|PMID:32041611|PMID:32616434|PMID:32685188|PMID:33713793|PMID:33803191|PMID:35449878|PMID:35772917 8719462 Lmna lamin A/C gene DOID:9007692 Insulin Resistance ISO RGD:732790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Insulin-resistance syndrome type A PMID:15919811|PMID:16478798|PMID:20848652|PMID:23785128|PMID:24033266|PMID:25637381|PMID:25741868|PMID:28492532 8719462 Lmna lamin A/C gene DOID:9007820 Sudden Death ISO RGD:732790 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Sudden unexplained death PMID:10814726|PMID:12628721|PMID:12673789|PMID:12920062|PMID:15053843|PMID:16386954|PMID:17136397|PMID:17377071|PMID:18035086|PMID:18414213|PMID:18564364|PMID:18646565|PMID:19524666|PMID:21632249|PMID:21840938|PMID:23142632|PMID:23183350|PMID:24503780|PMID:24990833|PMID:25741868|PMID:26443318|PMID:27220833|PMID:28492532|PMID:29693488|PMID:29895224|PMID:30055862|PMID:8619549|PMID:9106535 8719462 Lmna lamin A/C gene DOID:9007925 Sudden Cardiac Death ISO RGD:732790 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Family history of sudden cardiac death PMID:17711925|PMID:24623722|PMID:25741868|PMID:28492532 8719462 Lmna lamin A/C gene DOID:9008731 Craniofacial Abnormalities ISO RGD:732790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15726408 8719462 Lmna lamin A/C gene DOID:9008856 HIV-Associated Lipodystrophy Syndrome ISO RGD:732790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18230615 8719462 Lmna lamin A/C gene DOID:9164 achalasia ISO RGD:732791 D RGD:9068941 20220825 MouseDO OMIM:200400 8719462 Lmna lamin A/C gene DOID:9253 gastrointestinal stromal tumor ISO RGD:732790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8719462 Lmna lamin A/C gene DOID:9351 diabetes mellitus ISO RGD:732790 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:10580070|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10810087|PMID:10868844|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11792809|PMID:12057196|PMID:12524233|PMID:12647844|PMID:12927424|PMID:15060110|PMID:15219508|PMID:15770669|PMID:16181372|PMID:16364671|PMID:16415042|PMID:16585054|PMID:17377071|PMID:17893350|PMID:18035086|PMID:18478590|PMID:18728124|PMID:18795223|PMID:18926329|PMID:19011997|PMID:19201734|PMID:19418082|PMID:19589617|PMID:19859838|PMID:19875404|PMID:2007407|PMID:20074070|PMID:20130076|PMID:20301609|PMID:20301717|PMID:20497714|PMID:20625965|PMID:20848652|PMID:21535365|PMID:21831885|PMID:21980471|PMID:22177269|PMID:22199124|PMID:22276265|PMID:22355414|PMID:22526018|PMID:22570643|PMID:2270059|PMID:22700598|PMID:23183350|PMID:23313286|PMID:23349452|PMID:23427149|PMID:23853504|PMID:23861362|PMID:24033266|PMID:24080738|PMID:24375749|PMID:24503780|PMID:24623722|PMID:25025039|PMID:25163546|PMID:25637381|PMID:25741868|PMID:25873806|PMID:26467025|PMID:26498160|PMID:26662654|PMID:27000522|PMID:27153395|PMID:27447704|PMID:27532257|PMID:27813223|PMID:27896284|PMID:28087566|PMID:28492532|PMID:28518168|PMID:28620495|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28701371|PMID:28790152|PMID:28807990|PMID:29237675|PMID:29551499|PMID:29952368|PMID:30165155|PMID:30287275|PMID:30420677|PMID:31019283|PMID:31194872|PMID:31383942|PMID:31447099|PMID:31521807|PMID:31744510|PMID:31794942|PMID:31836692|PMID:32041611|PMID:32413188|PMID:32461654|PMID:32517491|PMID:32818388|PMID:32913962|PMID:32939435|PMID:33407844|PMID:33502018|PMID:33803652|PMID:34340952|PMID:34862408|PMID:34865644|PMID:35291351|PMID:35384599|PMID:35898701|PMID:36293084|PMID:36397776|PMID:37679847|PMID:38374194 8719462 Lmna lamin A/C gene DOID:9352 type 2 diabetes mellitus ISO RGD:732790 D RGD:9068941 20200609 RGD DNA:SNPs PMID:17327437|REF_RGD_ID:1624985 8719462 Lmna lamin A/C gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:732790 D RGD:9068941 20200609 RGD DNA:SNPs PMID:17327461|REF_RGD_ID:1624984 8719462 Lmna lamin A/C gene DOID:9884 muscular dystrophy ISO RGD:732790 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:10080180|PMID:10739764|PMID:10814726|PMID:10939567|PMID:11503164|PMID:11731280|PMID:11792809|PMID:11792810|PMID:12032588|PMID:12628721|PMID:12649505|PMID:12673789|PMID:12920062|PMID:14684700|PMID:14749366|PMID:15053843|PMID:15148145|PMID:15372542|PMID:15744034|PMID:16218190|PMID:16386954|PMID:17136397|PMID:17377071|PMID:17967828|PMID:18035086|PMID:18035816|PMID:18396274|PMID:18414213|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18646565|PMID:19070492|PMID:19524666|PMID:20848652|PMID:20886652|PMID:20980393|PMID:21173262|PMID:21179469|PMID:21520333|PMID:21632249|PMID:21818408|PMID:21840938|PMID:21970986|PMID:22326558|PMID:22883396|PMID:23142632|PMID:23150259|PMID:23183350|PMID:23217256|PMID:23427149|PMID:23990565|PMID:24375749|PMID:24503780|PMID:24508248|PMID:24623722|PMID:24642510|PMID:24990833|PMID:25210889|PMID:25343322|PMID:25741868|PMID:25948554|PMID:25987458|PMID:26098624|PMID:26443318|PMID:26467025|PMID:26575312|PMID:27034135|PMID:27220833|PMID:27363342|PMID:27461183|PMID:27673727|PMID:27708273|PMID:27854218|PMID:27938454|PMID:28492532|PMID:29057633|PMID:29693488|PMID:29895224|PMID:29907918|PMID:30055862|PMID:30107846|PMID:31127727|PMID:32571898|PMID:33502018|PMID:34008892|PMID:34240052|PMID:34862408|PMID:36253810|PMID:8619549|PMID:9106535 8719505 Olfml2a olfactomedin like 2A gene DOID:0080600 COVID-19 ISO RGD:1323220 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8719505 Olfml2a olfactomedin like 2A gene DOID:684 hepatocellular carcinoma ISO RGD:1323220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8719523 Rab24 RAB24, member RAS oncogene family gene DOID:0050753 cerebellar ataxia ISO RGD:12062566 D RGD:9068941 20250116 OMIA Ataxia, cerebellar, juvenile to adolescent, RAB24-related PMID:11043686|PMID:24516392|PMID:37341581|PMID:38003185|PMID:3973637|PMID:6502189|PMID:7341602|PMID:7440348 8719523 Rab24 RAB24, member RAS oncogene family gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1344346 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 8719523 Rab24 RAB24, member RAS oncogene family gene DOID:0050861 colorectal adenocarcinoma susceptibility ISO RGD:1344346 D RGD:9068941 20220513 RGD DNA:SNP:3'utr: (rs1128287) C>A (human) PMID:27354594|REF_RGD_ID:152177496 8719523 Rab24 RAB24, member RAS oncogene family gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1344346 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 8719523 Rab24 RAB24, member RAS oncogene family gene DOID:14681 Silver-Russell syndrome ISO RGD:1344346 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Russell-Silver syndrome PMID:27172843 8719523 Rab24 RAB24, member RAS oncogene family gene DOID:14748 Sotos syndrome ISO RGD:1344346 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Sotos syndrome PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 8719523 Rab24 RAB24, member RAS oncogene family gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1344346 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 8719523 Rab24 RAB24, member RAS oncogene family gene DOID:9008063 Chromosome 5, Trisomy 5q ISO RGD:1344346 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 5q35 microduplication syndrome PMID:31690835 8719535 Erich2 glutamate rich 2 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:6903373 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 8719548 Twist2 twist family bHLH transcription factor 2 gene DOID:0060549 Barber-Say syndrome ISO RGD:735468 D RGD:7240710 20180130 OMIM 8719548 Twist2 twist family bHLH transcription factor 2 gene DOID:0060549 Barber-Say syndrome ISO RGD:735468 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Barber-Say syndrome PMID:16650233|PMID:1867254|PMID:19760652|PMID:20799330|PMID:20830793|PMID:25741868|PMID:26119818|PMID:27092433|PMID:28680619|PMID:8368246|PMID:9674915 8719548 Twist2 twist family bHLH transcription factor 2 gene DOID:0060550 ablepharon macrostomia syndrome ISO RGD:735468 D RGD:7240710 20180130 OMIM 8719548 Twist2 twist family bHLH transcription factor 2 gene DOID:0060550 ablepharon macrostomia syndrome ISO RGD:735468 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ablepharon macrostomia syndrome PMID:11038439|PMID:11807864|PMID:15103726|PMID:2036354|PMID:21595001|PMID:25741868|PMID:26119818|PMID:8746822 8719548 Twist2 twist family bHLH transcription factor 2 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:735468 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8719548 Twist2 twist family bHLH transcription factor 2 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:735468 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8719548 Twist2 twist family bHLH transcription factor 2 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:735468 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 8719548 Twist2 twist family bHLH transcription factor 2 gene DOID:1059 intellectual disability ISO RGD:735468 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8719548 Twist2 twist family bHLH transcription factor 2 gene DOID:630 genetic disease ISO RGD:735468 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11038439|PMID:11807864|PMID:15103726|PMID:2036354|PMID:21595001|PMID:25741868|PMID:26119818|PMID:8746822 8719548 Twist2 twist family bHLH transcription factor 2 gene DOID:9000745 Focal Facial Dermal Dysplasia ISO RGD:735468 D RGD:9068941 20220210 CTD CTD Direct Evidence: marker/mechanism 8719548 Twist2 twist family bHLH transcription factor 2 gene DOID:9001550 Bethlem Myopathy 1A ISO RGD:735468 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1A PMID:26004199|PMID:28492532 8719548 Twist2 twist family bHLH transcription factor 2 gene DOID:9003398 Focal Facial Dermal Dysplasia 3 ISO RGD:735468 D RGD:7240710 20180130 OMIM 8719548 Twist2 twist family bHLH transcription factor 2 gene DOID:9003398 Focal Facial Dermal Dysplasia 3 ISO RGD:735468 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal facial dermal dysplasia 3, Setleis type PMID:14069095|PMID:20691403|PMID:21931173|PMID:8818454 8719554 LOC102024938 olfactory receptor 6Q1 gene DOID:1059 intellectual disability ISO RGD:1352757 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8719560 Tgfbrap1 transforming growth factor beta receptor associated protein 1 gene DOID:2843 long QT syndrome ISO RGD:1321869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 8719593 Sypl1 synaptophysin like 1 gene DOID:1059 intellectual disability ISO RGD:1346991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8719593 Sypl1 synaptophysin like 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1346991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8719603 Cdc7 cell division cycle 7 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1318070 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:28492532 8719603 Cdc7 cell division cycle 7 gene DOID:5426 primary ovarian insufficiency ISO RGD:1318070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 8719603 Cdc7 cell division cycle 7 gene DOID:630 genetic disease ISO RGD:1318070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8719625 Ap5b1 adaptor related protein complex 5 subunit beta 1 gene DOID:0061060 immunodeficiency 90 ISO RGD:1606994 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8719625 Ap5b1 adaptor related protein complex 5 subunit beta 1 gene DOID:1059 intellectual disability ISO RGD:1606994 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8719625 Ap5b1 adaptor related protein complex 5 subunit beta 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1606994 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8719625 Ap5b1 adaptor related protein complex 5 subunit beta 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1606994 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:25741868|PMID:28832565 8719625 Ap5b1 adaptor related protein complex 5 subunit beta 1 gene DOID:2746 glycogen storage disease V ISO RGD:1606994 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8719625 Ap5b1 adaptor related protein complex 5 subunit beta 1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1606994 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532|PMID:28600438 8719631 Mks1 MKS transition zone complex subunit 1 gene DOID:0050651 atrioventricular septal defect ISO RGD:1614795 D RGD:9068941 20220825 MouseDO OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 8719631 Mks1 MKS transition zone complex subunit 1 gene DOID:0050777 Joubert syndrome ISO RGD:1352123 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19430481|PMID:19466712|PMID:20301500|PMID:21068128|PMID:21228398|PMID:21258341|PMID:22353939|PMID:23351400|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25741868|PMID:26092869|PMID:26490104|PMID:27353947|PMID:27377014|PMID:27570071|PMID:28224992|PMID:28492532|PMID:28497568|PMID:29620724|PMID:30076350|PMID:30718709|PMID:31191208|PMID:31456290|PMID:33584783|PMID:34008892|PMID:9536098 8719631 Mks1 MKS transition zone complex subunit 1 gene DOID:0050777 Joubert syndrome ISO RGD:1352123 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19430481|PMID:19466712|PMID:20301500|PMID:21068128|PMID:21228398|PMID:21258341|PMID:22353939|PMID:23169490|PMID:23351400|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25741868|PMID:26092869|PMID:26490104|PMID:26862157|PMID:27353947|PMID:27377014|PMID:27570071|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28771248|PMID:29620724|PMID:30076350|PMID:30718709|PMID:30902645|PMID:31191208|PMID:31456290|PMID:33193692|PMID:33584783|PMID:34008892|PMID:34359301|PMID:34582790|PMID:9536098 8719631 Mks1 MKS transition zone complex subunit 1 gene DOID:0050777 Joubert syndrome ISO RGD:1352123 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19430481|PMID:19466712|PMID:21068128|PMID:21258341|PMID:23351400|PMID:23602711|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25363768|PMID:25741868|PMID:26092869|PMID:26490104|PMID:27353947|PMID:27377014|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28771248|PMID:29620724|PMID:30055837|PMID:30076350|PMID:30679815|PMID:30718709|PMID:30902645|PMID:31456290|PMID:31964843|PMID:33584783|PMID:34008892|PMID:34011629|PMID:34582790|PMID:9536098 8719631 Mks1 MKS transition zone complex subunit 1 gene DOID:0050777 Joubert syndrome ISO RGD:1352123 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19430481|PMID:19466712|PMID:21068128|PMID:21258341|PMID:23351400|PMID:23602711|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25363768|PMID:25741868|PMID:25966130|PMID:26092869|PMID:26490104|PMID:27353947|PMID:27377014|PMID:28224992|PMID:28289063|PMID:28492532|PMID:28497568|PMID:28771248|PMID:29620724|PMID:30055837|PMID:30076350|PMID:30679815|PMID:30718709|PMID:30793526|PMID:30902645|PMID:31456290|PMID:31964843|PMID:33584783|PMID:34008892|PMID:34011629|PMID:34426522|PMID:34573333|PMID:34582790|PMID:9536098 8719631 Mks1 MKS transition zone complex subunit 1 gene DOID:0050777 Joubert syndrome ISO RGD:1352123 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19430481|PMID:19466712|PMID:21068128|PMID:21258341|PMID:23351400|PMID:23602711|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25363768|PMID:25741868|PMID:25966130|PMID:26092869|PMID:26490104|PMID:27353947|PMID:27377014|PMID:28224992|PMID:28289063|PMID:28492532|PMID:28497568|PMID:28771248|PMID:29620724|PMID:30055837|PMID:30076350|PMID:30679815|PMID:30718709|PMID:30793526|PMID:30902645|PMID:31456290|PMID:31964843|PMID:32483926|PMID:33584783|PMID:34008892|PMID:34011629|PMID:34426522|PMID:34573333|PMID:34582790|PMID:37431782|PMID:9536098 8719631 Mks1 MKS transition zone complex subunit 1 gene DOID:0050778 Meckel syndrome ISO RGD:1352123 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:18414213|PMID:19430481|PMID:19466712|PMID:21068128|PMID:21258341|PMID:23351400|PMID:23602711|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25363768|PMID:25741868|PMID:25966130|PMID:26092869|PMID:26490104|PMID:27353947|PMID:27377014|PMID:28224992|PMID:28289063|PMID:28492532|PMID:28497568|PMID:28771248|PMID:29620724|PMID:30055837|PMID:30076350|PMID:30679815|PMID:30718709|PMID:30793526|PMID:30902645|PMID:31456290|PMID:31964843|PMID:32483926|PMID:33584783|PMID:34008892|PMID:34011629|PMID:34426522|PMID:34573333|PMID:34582790|PMID:37431782|PMID:9536098 8719631 Mks1 MKS transition zone complex subunit 1 gene DOID:0050952 spastic ataxia ISO RGD:1352123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868|PMID:28492532 8719631 Mks1 MKS transition zone complex subunit 1 gene DOID:0070115 Meckel syndrome 1 ISO RGD:1352123 D RGD:7240710 20180130 OMIM 8719631 Mks1 MKS transition zone complex subunit 1 gene DOID:0070115 Meckel syndrome 1 ISO RGD:1352123 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | ClinVar Annotator: match by term: Meckel syndrome, type 1 PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19430481|PMID:19466712|PMID:20301500|PMID:21068128|PMID:21258341|PMID:23351400|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25741868|PMID:26092869|PMID:26490104|PMID:27377014|PMID:27570071|PMID:28224992|PMID:28492532|PMID:28497568|PMID:29620724|PMID:30076350|PMID:30718709|PMID:31191208|PMID:33584783|PMID:34008892|PMID:9536098 8719631 Mks1 MKS transition zone complex subunit 1 gene DOID:0070115 Meckel syndrome 1 ISO RGD:1352123 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 1 | ClinVar Annotator: match by term: Meckel syndrome, type 1 PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19430481|PMID:19466712|PMID:20301500|PMID:21068128|PMID:21228398|PMID:21258341|PMID:23169490|PMID:23351400|PMID:23602711|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25363768|PMID:25741868|PMID:26092869|PMID:26490104|PMID:26862157|PMID:27353947|PMID:27377014|PMID:27570071|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28771248|PMID:29620724|PMID:30055837|PMID:30076350|PMID:30679815|PMID:30718709|PMID:30902645|PMID:31191208|PMID:31456290|PMID:31964843|PMID:33584783|PMID:34008892|PMID:34011629|PMID:34359301|PMID:34582790|PMID:35587316|PMID:9536098 8719631 Mks1 MKS transition zone complex subunit 1 gene DOID:0070115 Meckel syndrome 1 ISO RGD:1352123 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 1 | ClinVar Annotator: match by term: Meckel syndrome, type 1 PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19430481|PMID:19466712|PMID:20301500|PMID:21068128|PMID:21228398|PMID:21258341|PMID:23169490|PMID:23351400|PMID:23602711|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25363768|PMID:25741868|PMID:25966130|PMID:26092869|PMID:26490104|PMID:26862157|PMID:27353947|PMID:27377014|PMID:27570071|PMID:28224992|PMID:28289063|PMID:28492532|PMID:28497568|PMID:28771248|PMID:29620724|PMID:30055837|PMID:30076350|PMID:30679815|PMID:30718709|PMID:30793526|PMID:30902645|PMID:31191208|PMID:31456290|PMID:31964843|PMID:33584783|PMID:34008892|PMID:34011629|PMID:34359301|PMID:34426522|PMID:34573333|PMID:34582790|PMID:35587316|PMID:9536098 8719631 Mks1 MKS transition zone complex subunit 1 gene DOID:0070115 Meckel syndrome 1 ISO RGD:1352123 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 1 | ClinVar Annotator: match by term: Meckel syndrome, type 1 PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19430481|PMID:19466712|PMID:20301500|PMID:21068128|PMID:21228398|PMID:21258341|PMID:23169490|PMID:23351400|PMID:23602711|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25363768|PMID:25741868|PMID:25966130|PMID:26092869|PMID:26490104|PMID:26862157|PMID:27353947|PMID:27377014|PMID:27570071|PMID:28224992|PMID:28289063|PMID:28492532|PMID:28497568|PMID:28771248|PMID:29620724|PMID:30055837|PMID:30076350|PMID:30679815|PMID:30718709|PMID:30793526|PMID:30902645|PMID:31191208|PMID:31456290|PMID:31964843|PMID:32483926|PMID:33584783|PMID:34008892|PMID:34011629|PMID:34359301|PMID:34426522|PMID:34573333|PMID:34582790|PMID:35587316|PMID:37431782|PMID:9536098 8719631 Mks1 MKS transition zone complex subunit 1 gene DOID:0080322 polycystic kidney disease ISO RGD:1352123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease PMID:25741868 8719631 Mks1 MKS transition zone complex subunit 1 gene DOID:0110135 Bardet-Biedl syndrome 13 ISO RGD:1352123 D RGD:7240710 20180130 OMIM 8719631 Mks1 MKS transition zone complex subunit 1 gene DOID:0110135 Bardet-Biedl syndrome 13 ISO RGD:1352123 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 13 PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:18414213|PMID:19430481|PMID:19466712|PMID:20301500|PMID:21068128|PMID:21228398|PMID:21258341|PMID:23351400|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25363768|PMID:25741868|PMID:25966130|PMID:26092869|PMID:26490104|PMID:26862157|PMID:27353947|PMID:27377014|PMID:27570071|PMID:28224992|PMID:28289063|PMID:28492532|PMID:28497568|PMID:28771248|PMID:28981474|PMID:29620724|PMID:30055837|PMID:30076350|PMID:30679815|PMID:30718709|PMID:30793526|PMID:30902645|PMID:31191208|PMID:31456290|PMID:31964843|PMID:32483926|PMID:33193692|PMID:33584783|PMID:34008892|PMID:34011629|PMID:34359301|PMID:34426522|PMID:34573333|PMID:34582790|PMID:35360848|PMID:35587316|PMID:9536098 8719631 Mks1 MKS transition zone complex subunit 1 gene DOID:0110329 Leber congenital amaurosis 6 ISO RGD:1352123 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 6 PMID:17397051|PMID:17576681|PMID:25741868|PMID:28492532|PMID:31191208|PMID:35587316|PMID:9536098 8719631 Mks1 MKS transition zone complex subunit 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1352123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19430481|PMID:19466712|PMID:20301500|PMID:21068128|PMID:21228398|PMID:21258341|PMID:22353939|PMID:23351400|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25741868|PMID:25966130|PMID:26092869|PMID:26490104|PMID:26862157|PMID:27377014|PMID:27570071|PMID:28224992|PMID:28492532|PMID:28497568|PMID:29620724|PMID:30076350|PMID:30718709|PMID:31191208|PMID:33584783|PMID:34008892|PMID:9536098 8719631 Mks1 MKS transition zone complex subunit 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1352123 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:17185389|PMID:17397051|PMID:19466712|PMID:23351400|PMID:24886560|PMID:25741868|PMID:26490104|PMID:28492532|PMID:34008892 8719631 Mks1 MKS transition zone complex subunit 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1352123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19430481|PMID:19466712|PMID:20301500|PMID:21068128|PMID:21228398|PMID:21258341|PMID:22353939|PMID:23169490|PMID:23351400|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25741868|PMID:26092869|PMID:26490104|PMID:26862157|PMID:27353947|PMID:27377014|PMID:27570071|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28771248|PMID:29620724|PMID:30076350|PMID:30718709|PMID:30902645|PMID:31191208|PMID:31456290|PMID:33193692|PMID:33584783|PMID:34008892|PMID:34359301|PMID:34582790|PMID:9536098 8719631 Mks1 MKS transition zone complex subunit 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1352123 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19430481|PMID:19466712|PMID:20301500|PMID:21068128|PMID:21228398|PMID:21258341|PMID:22353939|PMID:23169490|PMID:23351400|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25363768|PMID:25741868|PMID:26092869|PMID:26490104|PMID:26862157|PMID:27353947|PMID:27377014|PMID:27570071|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28771248|PMID:29620724|PMID:30055837|PMID:30076350|PMID:30679815|PMID:30718709|PMID:30902645|PMID:31191208|PMID:31456290|PMID:31964843|PMID:33193692|PMID:33584783|PMID:34008892|PMID:34011629|PMID:34359301|PMID:34582790|PMID:9536098 8719631 Mks1 MKS transition zone complex subunit 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1352123 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19430481|PMID:19466712|PMID:19763152|PMID:20301500|PMID:20307669|PMID:21068128|PMID:21228398|PMID:21258341|PMID:22353939|PMID:22406018|PMID:23169490|PMID:23351400|PMID:23602711|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25363768|PMID:25741868|PMID:26092869|PMID:26490104|PMID:26862157|PMID:27353947|PMID:27377014|PMID:27570071|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28771248|PMID:29620724|PMID:30055837|PMID:30076350|PMID:30679815|PMID:30718709|PMID:30902645|PMID:31191208|PMID:31456290|PMID:31964843|PMID:33193692|PMID:33584783|PMID:34008892|PMID:34011629|PMID:34359301|PMID:34582790|PMID:35360848|PMID:35587316|PMID:9536098 8719631 Mks1 MKS transition zone complex subunit 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1352123 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19430481|PMID:19466712|PMID:19763152|PMID:20301500|PMID:20307669|PMID:21068128|PMID:21228398|PMID:21258341|PMID:22353939|PMID:22406018|PMID:23169490|PMID:23351400|PMID:23602711|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25363768|PMID:25741868|PMID:25966130|PMID:26092869|PMID:26490104|PMID:26862157|PMID:27353947|PMID:27377014|PMID:27570071|PMID:28224992|PMID:28289063|PMID:28492532|PMID:28497568|PMID:28771248|PMID:29620724|PMID:30055837|PMID:30076350|PMID:30679815|PMID:30718709|PMID:30793526|PMID:30902645|PMID:31191208|PMID:31456290|PMID:31964843|PMID:33193692|PMID:33584783|PMID:34008892|PMID:34011629|PMID:34359301|PMID:34426522|PMID:34573333|PMID:34582790|PMID:35360848|PMID:35587316|PMID:9536098 8719631 Mks1 MKS transition zone complex subunit 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1352123 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Cerebelloparenchymal disorder 4 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19430481|PMID:19466712|PMID:19763152|PMID:20301500|PMID:20307669|PMID:21068128|PMID:21228398|PMID:21258341|PMID:22353939|PMID:22406018|PMID:23169490|PMID:23351400|PMID:23602711|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25363768|PMID:25741868|PMID:25966130|PMID:26092869|PMID:26490104|PMID:26862157|PMID:27353947|PMID:27377014|PMID:27570071|PMID:28224992|PMID:28289063|PMID:28492532|PMID:28497568|PMID:28771248|PMID:29620724|PMID:30055837|PMID:30076350|PMID:30679815|PMID:30718709|PMID:30793526|PMID:30902645|PMID:31191208|PMID:31456290|PMID:31964843|PMID:32483926|PMID:33193692|PMID:33584783|PMID:34008892|PMID:34011629|PMID:34359301|PMID:34426522|PMID:34573333|PMID:34582790|PMID:35360848|PMID:35587316|PMID:37431782|PMID:9536098 8719631 Mks1 MKS transition zone complex subunit 1 gene DOID:0110997 Joubert Syndrome 28 ISO RGD:1352123 D RGD:7240710 20190315 OMIM 8719631 Mks1 MKS transition zone complex subunit 1 gene DOID:0110997 Joubert Syndrome 28 ISO RGD:1352123 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Joubert syndrome 28 PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19430481|PMID:19466712|PMID:20301500|PMID:21068128|PMID:21258341|PMID:23351400|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25363768|PMID:25741868|PMID:25966130|PMID:26092869|PMID:26490104|PMID:27353947|PMID:27377014|PMID:27570071|PMID:28224992|PMID:28289063|PMID:28492532|PMID:28497568|PMID:29620724|PMID:30055837|PMID:30076350|PMID:30679815|PMID:30718709|PMID:30793526|PMID:30902645|PMID:31456290|PMID:31964843|PMID:32483926|PMID:33584783|PMID:34008892|PMID:34011629|PMID:34426522|PMID:34573333|PMID:34582790|PMID:9536098 8719631 Mks1 MKS transition zone complex subunit 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1352123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:30718709 8719631 Mks1 MKS transition zone complex subunit 1 gene DOID:1059 intellectual disability ISO RGD:1352123 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:37071997 8719631 Mks1 MKS transition zone complex subunit 1 gene DOID:10907 microcephaly ISO RGD:1352123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24608809|PMID:25741868|PMID:28492532|PMID:30076350|PMID:33584783 8719631 Mks1 MKS transition zone complex subunit 1 gene DOID:1148 polydactyly ISO RGD:1352123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly PMID:18327255|PMID:20301500|PMID:24886560|PMID:25741868|PMID:26092869|PMID:26490104|PMID:27570071|PMID:28492532|PMID:28497568|PMID:34008892 8719631 Mks1 MKS transition zone complex subunit 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1352123 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:18327255|PMID:25741868|PMID:28289063|PMID:28492532|PMID:30793526|PMID:31456290|PMID:34426522|PMID:34573333|PMID:37431782 8719631 Mks1 MKS transition zone complex subunit 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1352123 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 PMID:38922859 8719631 Mks1 MKS transition zone complex subunit 1 gene DOID:5723 optic atrophy ISO RGD:1352123 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:18327255|PMID:25741868|PMID:28289063|PMID:28492532|PMID:30793526|PMID:31456290|PMID:34426522|PMID:34573333 8719631 Mks1 MKS transition zone complex subunit 1 gene DOID:574 peripheral nervous system disease ISO RGD:1352123 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:23602711|PMID:25741868|PMID:28492532 8719631 Mks1 MKS transition zone complex subunit 1 gene DOID:630 genetic disease ISO RGD:1352123 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16415886|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:19466712|PMID:23351400|PMID:23602711|PMID:23736532|PMID:24033266|PMID:25741868|PMID:26092869|PMID:26490104|PMID:27377014|PMID:28492532|PMID:28497568|PMID:28771248|PMID:30679815|PMID:34582790|PMID:9536098 8719631 Mks1 MKS transition zone complex subunit 1 gene DOID:6419 tetralogy of Fallot ISO RGD:1614795 D RGD:9068941 20220825 MouseDO OMIM:187500 8719631 Mks1 MKS transition zone complex subunit 1 gene DOID:8501 fundus dystrophy ISO RGD:1352123 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:17576681|PMID:18327255|PMID:23105016|PMID:25741868|PMID:28289063|PMID:28492532|PMID:30793526|PMID:31456290|PMID:3442652|PMID:34426522|PMID:34573333|PMID:9536098 8719631 Mks1 MKS transition zone complex subunit 1 gene DOID:870 neuropathy ISO RGD:1352123 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:23602711|PMID:25741868|PMID:28492532 8719631 Mks1 MKS transition zone complex subunit 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:1352123 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: poor muscle tone PMID:18327255|PMID:25741868|PMID:28492532|PMID:28497568|PMID:34008892 8719631 Mks1 MKS transition zone complex subunit 1 gene DOID:9650 pathologic nystagmus ISO RGD:1352123 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Nystagmus PMID:18327255|PMID:25741868|PMID:28492532|PMID:28497568|PMID:34008892 8719652 Fam114a2 family with sequence similarity 114 member A2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1313342 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8719652 Fam114a2 family with sequence similarity 114 member A2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313342 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8719673 Slc4a2 solute carrier family 4 member 2 gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:733302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:28492532 8719673 Slc4a2 solute carrier family 4 member 2 gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:3711 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, altered localization:cholangiocyte, basolateral plasma membrane PMID:18988797|REF_RGD_ID:2307071 8719673 Slc4a2 solute carrier family 4 member 2 gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:733302 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18988797 8719673 Slc4a2 solute carrier family 4 member 2 gene DOID:11716 prediabetes syndrome ISO RGD:3711 D RGD:9068941 20200609 RGD protein:increased expression:epididymis PMID:24105628|REF_RGD_ID:9999379 8719673 Slc4a2 solute carrier family 4 member 2 gene DOID:12236 primary biliary cholangitis ISO RGD:733302 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18188457 8719673 Slc4a2 solute carrier family 4 member 2 gene DOID:2843 long QT syndrome ISO RGD:733302 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16470702|PMID:18348270|PMID:19443486|PMID:19862833|PMID:21185499|PMID:25606385|PMID:28492532 8719673 Slc4a2 solute carrier family 4 member 2 gene DOID:899 choledochal cyst ISO RGD:733302 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18988797 8719673 Slc4a2 solute carrier family 4 member 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:733302 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 8719673 Slc4a2 solute carrier family 4 member 2 gene DOID:9004633 Autosomal Recessive Osteopetrosis 9 ISO RGD:733302 D RGD:7240710 20230510 OMIM 8719673 Slc4a2 solute carrier family 4 member 2 gene DOID:9004633 Autosomal Recessive Osteopetrosis 9 ISO RGD:733302 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Osteopetrosis, autosomal recessive 9 PMID:25741868|PMID:34668226 8719673 Slc4a2 solute carrier family 4 member 2 gene DOID:9007331 Alkalosis ISO RGD:3711 D RGD:9068941 20200609 RGD associated with Hypercalcemia;protein:decreased expression:kidney outer medulla inner stripe PMID:17367404|REF_RGD_ID:9999377 8719673 Slc4a2 solute carrier family 4 member 2 gene DOID:9007406 Distal Renal Tubular Acidosis ISO RGD:733302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal renal tubular acidosis PMID:31959358 8719709 Clps colipase gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:731525 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8719709 Clps colipase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2363 D RGD:9068941 20200609 RGD PMID:19577003|REF_RGD_ID:2314624 8719709 Clps colipase gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:731525 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.R109C (human) PMID:16189801|REF_RGD_ID:2314627 8719720 Ppp2r1a protein phosphatase 2 scaffold subunit Aalpha gene DOID:0060041 autism spectrum disorder ISO RGD:1345219 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8719720 Ppp2r1a protein phosphatase 2 scaffold subunit Aalpha gene DOID:0070066 autosomal dominant intellectual developmental disorder 36 ISO RGD:1345219 D RGD:7240710 20180130 OMIM 8719720 Ppp2r1a protein phosphatase 2 scaffold subunit Aalpha gene DOID:0070066 autosomal dominant intellectual developmental disorder 36 ISO RGD:1345219 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Houge-Janssens syndrome 2 | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 36 | ClinVar Annotator: match by term: PPP2R1A-related disorder PMID:17576681|PMID:24728327|PMID:25533962|PMID:25741868|PMID:26168268|PMID:28492532|PMID:29100083|PMID:30755392|PMID:31531803|PMID:31687265|PMID:31785789|PMID:32901917|PMID:33106617|PMID:34930662|PMID:36209351|PMID:9536098 8719720 Ppp2r1a protein phosphatase 2 scaffold subunit Aalpha gene DOID:1059 intellectual disability ISO RGD:1345219 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532|PMID:31687265 8719720 Ppp2r1a protein phosphatase 2 scaffold subunit Aalpha gene DOID:10907 microcephaly ISO RGD:1345219 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:26168268|PMID:28492532|PMID:30755392|PMID:32901917|PMID:33106617 8719720 Ppp2r1a protein phosphatase 2 scaffold subunit Aalpha gene DOID:12347 osteogenesis imperfecta ISO RGD:1345219 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Lobstein disease PMID:25741868|PMID:25944380|PMID:28492532|PMID:29100083|PMID:31531803|PMID:33106617 8719720 Ppp2r1a protein phosphatase 2 scaffold subunit Aalpha gene DOID:12849 autistic disorder ISO RGD:1345219 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:25741868|PMID:26168268|PMID:28492532|PMID:30755392|PMID:32901917|PMID:33106617 8719720 Ppp2r1a protein phosphatase 2 scaffold subunit Aalpha gene DOID:2303 stereotypic movement disorder ISO RGD:1345219 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Stereotypic movement disorder PMID:25741868|PMID:26168268|PMID:28492532|PMID:30755392|PMID:32901917|PMID:33106617 8719720 Ppp2r1a protein phosphatase 2 scaffold subunit Aalpha gene DOID:3717 gastric adenocarcinoma ISO RGD:1345219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach | ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:25741868|PMID:26168268|PMID:26619011|PMID:28492532 8719720 Ppp2r1a protein phosphatase 2 scaffold subunit Aalpha gene DOID:3717 gastric adenocarcinoma ISO RGD:1345219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach PMID:25741868|PMID:26168268|PMID:26619011|PMID:28492532|PMID:31687265 8719720 Ppp2r1a protein phosphatase 2 scaffold subunit Aalpha gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1345219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:25741868|PMID:26168268|PMID:26619011|PMID:28492532 8719720 Ppp2r1a protein phosphatase 2 scaffold subunit Aalpha gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1345219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:25741868|PMID:26168268|PMID:26619011|PMID:28492532|PMID:31687265 8719720 Ppp2r1a protein phosphatase 2 scaffold subunit Aalpha gene DOID:630 genetic disease ISO RGD:1345219 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25533962|PMID:25741868|PMID:26168268|PMID:28492532|PMID:29100083|PMID:31531803|PMID:33106617 8719720 Ppp2r1a protein phosphatase 2 scaffold subunit Aalpha gene DOID:8398 osteoarthritis ISO RGD:1345219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 8719720 Ppp2r1a protein phosphatase 2 scaffold subunit Aalpha gene DOID:9000217 Stomach Neoplasms ISO RGD:1345219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8719720 Ppp2r1a protein phosphatase 2 scaffold subunit Aalpha gene DOID:9000918 Disease Progression ISO RGD:1345219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8719720 Ppp2r1a protein phosphatase 2 scaffold subunit Aalpha gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8719720 Ppp2r1a protein phosphatase 2 scaffold subunit Aalpha gene DOID:9005603 Muscle Hypotonia ISO RGD:1345219 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:25741868|PMID:26168268|PMID:28492532|PMID:30755392|PMID:32901917|PMID:33106617 8719744 Crip3 cysteine rich protein 3 gene DOID:0050444 infantile Refsum disease ISO RGD:1343897 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8719744 Crip3 cysteine rich protein 3 gene DOID:905 Zellweger syndrome ISO RGD:1343897 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8719766 Commd7 COMM domain containing 7 gene DOID:0090008 immunodeficiency-centromeric instability-facial anomalies syndrome 1 ISO RGD:1317181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency PMID:28492532 8719786 Ttc8 tetratricopeptide repeat domain 8 gene DOID:0110130 Bardet-Biedl syndrome 8 ISO RGD:1317152 D RGD:7240710 20180130 OMIM 8719786 Ttc8 tetratricopeptide repeat domain 8 gene DOID:0110130 Bardet-Biedl syndrome 8 ISO RGD:1317152 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 8 | ClinVar Annotator: match by term: TTC8-related condition PMID:14520415|PMID:16199547|PMID:16308660|PMID:16877420|PMID:17576681|PMID:19797195|PMID:20177705|PMID:21044901|PMID:21052717|PMID:24033266|PMID:25097241|PMID:25741868|PMID:26401321|PMID:28492532|PMID:28914264|PMID:29030401|PMID:30718709|PMID:30886724|PMID:32962042|PMID:33138063|PMID:33532864|PMID:33964006|PMID:9536098 8719786 Ttc8 tetratricopeptide repeat domain 8 gene DOID:0110331 Leber congenital amaurosis 3 ISO RGD:1317152 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 3 PMID:28492532 8719786 Ttc8 tetratricopeptide repeat domain 8 gene DOID:0110398 retinitis pigmentosa 51 ISO RGD:1317152 D RGD:7240710 20180130 OMIM 8719786 Ttc8 tetratricopeptide repeat domain 8 gene DOID:0110398 retinitis pigmentosa 51 ISO RGD:1317152 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 51 PMID:16199547|PMID:16308660|PMID:16877420|PMID:17576681|PMID:19797195|PMID:20177705|PMID:20451172|PMID:21044901|PMID:21052717|PMID:24033266|PMID:25097241|PMID:25741868|PMID:25776555|PMID:25999674|PMID:26195043|PMID:26401321|PMID:28492532|PMID:28914264|PMID:29030401|PMID:30718709|PMID:30886724|PMID:32962042|PMID:33138063|PMID:33964006|PMID:9536098 8719786 Ttc8 tetratricopeptide repeat domain 8 gene DOID:10584 retinitis pigmentosa ISO RGD:1317152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:14520415|PMID:16308660|PMID:25097241|PMID:25741868|PMID:28492532|PMID:30718709 8719786 Ttc8 tetratricopeptide repeat domain 8 gene DOID:10584 retinitis pigmentosa ISO RGD:1317152 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:14520415|PMID:16308660|PMID:25097241|PMID:25326637|PMID:25741868|PMID:28492532|PMID:30718709 8719786 Ttc8 tetratricopeptide repeat domain 8 gene DOID:10584 retinitis pigmentosa ISO RGD:1317152 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:14520415|PMID:16308660|PMID:25097241|PMID:25741868|PMID:28492532|PMID:30718709|PMID:33964006 8719786 Ttc8 tetratricopeptide repeat domain 8 gene DOID:10584 retinitis pigmentosa ISO RGD:1317152 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:14520415|PMID:16308660|PMID:25097241|PMID:25741868|PMID:28492532|PMID:30718709|PMID:30886724|PMID:33964006 8719786 Ttc8 tetratricopeptide repeat domain 8 gene DOID:1059 intellectual disability ISO RGD:1317152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, moderate PMID:16308660|PMID:17576681|PMID:20177705|PMID:21044901|PMID:24033266|PMID:25741868|PMID:26401321|PMID:28492532|PMID:28914264|PMID:29030401|PMID:30886724|PMID:32962042|PMID:33138063|PMID:9536098 8719786 Ttc8 tetratricopeptide repeat domain 8 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1317152 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:14520415|PMID:16199547|PMID:16308660|PMID:16877420|PMID:17576681|PMID:19797195|PMID:20177705|PMID:21044901|PMID:21052717|PMID:24033266|PMID:25097241|PMID:25741868|PMID:25999674|PMID:26401321|PMID:28492532|PMID:28914264|PMID:29030401|PMID:30718709|PMID:30886724|PMID:31736247|PMID:31852928|PMID:32962042|PMID:33138063|PMID:33587123|PMID:33964006|PMID:9536098 8719786 Ttc8 tetratricopeptide repeat domain 8 gene DOID:1935 Bardet-Biedl syndrome susceptibility ISO RGD:1317152 D RGD:9068941 20200609 RGD DNA:deletions:exon, splice junction :p.E187_Y188del, IVS10+2_+4delTGC PMID:14520415|REF_RGD_ID:1624198 8719786 Ttc8 tetratricopeptide repeat domain 8 gene DOID:4448 macular degeneration ISO RGD:1317152 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:25097241|PMID:25741868|PMID:28492532|PMID:30718709|PMID:33964006 8719786 Ttc8 tetratricopeptide repeat domain 8 gene DOID:630 genetic disease ISO RGD:1317152 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25097241|PMID:25741868|PMID:28492532|PMID:30718709|PMID:33964006 8719786 Ttc8 tetratricopeptide repeat domain 8 gene DOID:8466 retinal degeneration ISO RGD:12071899 D RGD:9068941 20231207 OMIA Retinal atrophy, progressive, TTC8-related PMID:22065099|PMID:26401321|PMID:26427412|PMID:32962042|PMID:36325094|PMID:37582787|PMID:38028226 8719786 Ttc8 tetratricopeptide repeat domain 8 gene DOID:8501 fundus dystrophy ISO RGD:1317152 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16199547|PMID:16308660|PMID:16877420|PMID:17576681|PMID:19797195|PMID:20177705|PMID:20451172|PMID:21044901|PMID:21052717|PMID:24033266|PMID:25741868|PMID:25776555|PMID:26401321|PMID:28492532|PMID:28914264|PMID:29030401|PMID:30718709|PMID:30886724|PMID:32962042|PMID:33138063|PMID:9536098 8719809 Prrt2 proline rich transmembrane protein 2 gene DOID:0060019 coronin-1A deficiency ISO RGD:1602444 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:14615364|PMID:18836449|PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:25073507|PMID:2825199|PMID:28492532 8719809 Prrt2 proline rich transmembrane protein 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1602444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 8719809 Prrt2 proline rich transmembrane protein 2 gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:1602444 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 8719809 Prrt2 proline rich transmembrane protein 2 gene DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb ISO RGD:1602444 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome PMID:25741868|PMID:31690835 8719809 Prrt2 proline rich transmembrane protein 2 gene DOID:0081115 benign familial infantile seizures 2 ISO RGD:1602444 D RGD:7240710 20180130 OMIM 8719809 Prrt2 proline rich transmembrane protein 2 gene DOID:0081115 benign familial infantile seizures 2 ISO RGD:1602444 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: CONVULSIONS, BENIGN FAMILIAL INFANTILE, 2 | ClinVar Annotator: match by term: Seizures, benign familial infantile, 2 PMID:11179027|PMID:11346027|PMID:12953268|PMID:18414213|PMID:2131349|PMID:22101681|PMID:22120146|PMID:22131361|PMID:22209761|PMID:22243967|PMID:22399141|PMID:22464846|PMID:22623405|PMID:22744660|PMID:22752065|PMID:22782515|PMID:22832103|PMID:22845787|PMID:22870186|PMID:22875091|PMID:22877996|PMID:22895590|PMID:22902309|PMID:23077016|PMID:23077017|PMID:23077024|PMID:23077026|PMID:23126439|PMID:23180180|PMID:23182655|PMID:23190448|PMID:23299620|PMID:23352743|PMID:23363396|PMID:23496026|PMID:23529024|PMID:23551744|PMID:23566103|PMID:23768507|PMID:23771590|PMID:24074546|PMID:24101679|PMID:24370076|PMID:24465263|PMID:24594579|PMID:24609974|PMID:24755245|PMID:24828792|PMID:24886244|PMID:24928127|PMID:25060993|PMID:25167861|PMID:25449067|PMID:25457817|PMID:25502464|PMID:25522171|PMID:25667652|PMID:25741868|PMID:25915028|PMID:26446061|PMID:26467025|PMID:26561923|PMID:26598493|PMID:26598494|PMID:26935445|PMID:27172900|PMID:27624551|PMID:28074849|PMID:28492532|PMID:28906077|PMID:29167286|PMID:29215089|PMID:29334453|PMID:30198221|PMID:30386286|PMID:30392205|PMID:30980674|PMID:31124310|PMID:31130284|PMID:31722684|PMID:32346475|PMID:32392383|PMID:32651081|PMID:33126486|PMID:33661484|PMID:34041212|PMID:34298454|PMID:34298581|PMID:34782754|PMID:35428900|PMID:36247910|PMID:36467477|PMID:37271286|PMID:37476319|PMID:37793168|PMID:37880614|PMID:37884687|PMID:38778723|PMID:39825153|PMID:9579893 8719809 Prrt2 proline rich transmembrane protein 2 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1602444 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Familial paroxysmal choreoathetosis PMID:11179027|PMID:22101681|PMID:22120146|PMID:22131361|PMID:22209761|PMID:22243967|PMID:22399141|PMID:22623405|PMID:22744660|PMID:22782515|PMID:22832103|PMID:22845787|PMID:22870186|PMID:22875091|PMID:22877996|PMID:23077017|PMID:23077024|PMID:23077026|PMID:23126439|PMID:23180180|PMID:23182655|PMID:23299620|PMID:23768507|PMID:23771590|PMID:24074546|PMID:24370076|PMID:24928127|PMID:25457817|PMID:25502464|PMID:25522171|PMID:25667652|PMID:25741868|PMID:25915028|PMID:26467025|PMID:26561923|PMID:26598493|PMID:28492532|PMID:29334453|PMID:33661484|PMID:34782754|PMID:38778723|PMID:39825153 8719809 Prrt2 proline rich transmembrane protein 2 gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:1602444 D RGD:7240710 20180130 OMIM 8719809 Prrt2 proline rich transmembrane protein 2 gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:1602444 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: DYSTONIA, FAMILIAL PAROXYSMAL | ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia 1 | ClinVar Annotator: match by term: Familial Paroxysmal Kinesigenic Dyskinesia | ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:11179027|PMID:11346027|PMID:14615364|PMID:16199547|PMID:18414213|PMID:18836449|PMID:20301633|PMID:2131349|PMID:21937992|PMID:22101681|PMID:22120146|PMID:22131361|PMID:22209761|PMID:22243967|PMID:22399141|PMID:22464846|PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:22752065|PMID:22782515|PMID:22832103|PMID:22845787|PMID:22870186|PMID:22875091|PMID:22877996|PMID:22902309|PMID:23063574|PMID:23077016|PMID:23077017|PMID:23077024|PMID:23077026|PMID:23126439|PMID:23180180|PMID:23182655|PMID:23190448|PMID:23299620|PMID:23352743|PMID:23363396|PMID:23436308|PMID:23456995|PMID:23496026|PMID:23529024|PMID:23551744|PMID:23566103|PMID:23768507|PMID:23771590|PMID:24074546|PMID:24101679|PMID:24370076|PMID:24372385|PMID:24465263|PMID:24594579|PMID:24609974|PMID:24755245|PMID:24811917|PMID:24886244|PMID:24928127|PMID:25060993|PMID:25073507|PMID:25167861|PMID:25449067|PMID:25457817|PMID:25502464|PMID:25522171|PMID:25667652|PMID:25741868|PMID:25915028|PMID:26446061|PMID:26467025|PMID:26561923|PMID:26598493|PMID:26598494|PMID:26935445|PMID:27123484|PMID:27172900|PMID:27173777|PMID:28074849|PMID:2825199|PMID:28492532|PMID:28525812|PMID:28906077|PMID:29132464|PMID:29167286|PMID:29215089|PMID:29334453|PMID:29655203|PMID:30386286|PMID:30980674|PMID:31124310|PMID:31589614|PMID:31722684|PMID:32392383|PMID:32651081|PMID:32906206|PMID:33126486|PMID:33661484|PMID:34041212|PMID:34298581|PMID:34782754|PMID:35428900|PMID:36247910|PMID:36467477|PMID:37271286|PMID:37476319|PMID:37793168|PMID:37880614|PMID:37884687|PMID:38778723|PMID:39825153 8719809 Prrt2 proline rich transmembrane protein 2 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1602444 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 8719809 Prrt2 proline rich transmembrane protein 2 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1602444 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734 8719809 Prrt2 proline rich transmembrane protein 2 gene DOID:1059 intellectual disability ISO RGD:1602444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, profound PMID:25741868 8719809 Prrt2 proline rich transmembrane protein 2 gene DOID:12849 autistic disorder ISO RGD:1602444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8719809 Prrt2 proline rich transmembrane protein 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1602444 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant PMID:28492532 8719809 Prrt2 proline rich transmembrane protein 2 gene DOID:1826 epilepsy ISO RGD:1602444 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Seizure PMID:11179027|PMID:22101681|PMID:22120146|PMID:22131361|PMID:22209761|PMID:22243967|PMID:22399141|PMID:22623405|PMID:22744660|PMID:22782515|PMID:22832103|PMID:22845787|PMID:22870186|PMID:22875091|PMID:22877996|PMID:23077017|PMID:23077024|PMID:23077026|PMID:23126439|PMID:23180180|PMID:23182655|PMID:23299620|PMID:23768507|PMID:23771590|PMID:24074546|PMID:24370076|PMID:25457817|PMID:25502464|PMID:25522171|PMID:25667652|PMID:25741868|PMID:26467025|PMID:26598493|PMID:28074849|PMID:28492532|PMID:29334453|PMID:34782754 8719809 Prrt2 proline rich transmembrane protein 2 gene DOID:1826 epilepsy ISO RGD:1602444 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:11179027|PMID:22101681|PMID:22120146|PMID:22131361|PMID:22209761|PMID:22243967|PMID:22399141|PMID:22623405|PMID:22744660|PMID:22782515|PMID:22832103|PMID:22845787|PMID:22870186|PMID:22875091|PMID:22877996|PMID:23077017|PMID:23077024|PMID:23077026|PMID:23126439|PMID:23180180|PMID:23182655|PMID:23299620|PMID:23529024|PMID:23566103|PMID:23768507|PMID:23771590|PMID:24074546|PMID:24370076|PMID:24594579|PMID:24828792|PMID:24928127|PMID:25457817|PMID:25502464|PMID:25522171|PMID:25667652|PMID:25741868|PMID:25915028|PMID:26467025|PMID:26561923|PMID:26598493|PMID:28492532|PMID:29334453|PMID:31124310|PMID:33661484|PMID:34782754|PMID:38778723|PMID:39825153 8719809 Prrt2 proline rich transmembrane protein 2 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1602444 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Cholestanol storage disease PMID:25741868|PMID:28492532|PMID:28590052 8719809 Prrt2 proline rich transmembrane protein 2 gene DOID:5419 schizophrenia ISO RGD:1602444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8719809 Prrt2 proline rich transmembrane protein 2 gene DOID:630 genetic disease ISO RGD:1602444 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11179027|PMID:11346027|PMID:18414213|PMID:20301633|PMID:22101681|PMID:22120146|PMID:22131361|PMID:22209761|PMID:22243967|PMID:22399141|PMID:22623405|PMID:22744660|PMID:22782515|PMID:22832103|PMID:22845787|PMID:22870186|PMID:22875091|PMID:22877996|PMID:23063574|PMID:23077016|PMID:23077017|PMID:23077024|PMID:23077026|PMID:23126439|PMID:23180180|PMID:23182655|PMID:23190448|PMID:23299620|PMID:23363396|PMID:23436308|PMID:23496026|PMID:23529024|PMID:23551744|PMID:23566103|PMID:23768507|PMID:23771590|PMID:24074546|PMID:24101679|PMID:24370076|PMID:24465263|PMID:24594579|PMID:24609974|PMID:24755245|PMID:24828792|PMID:24928127|PMID:25060993|PMID:25167861|PMID:25449067|PMID:25457817|PMID:25502464|PMID:25522171|PMID:25667652|PMID:25741868|PMID:25915028|PMID:26446061|PMID:26467025|PMID:26561923|PMID:26598493|PMID:26598494|PMID:27123484|PMID:27172900|PMID:28492532|PMID:28525812|PMID:28906077|PMID:29215089|PMID:29334453|PMID:31124310|PMID:31193310|PMID:31722684|PMID:32651081|PMID:33126486|PMID:33661484|PMID:34041212|PMID:34782754|PMID:35428900|PMID:36247910|PMID:36467477|PMID:37476319|PMID:37793168|PMID:37880614|PMID:37884687|PMID:38778723|PMID:39825153 8719809 Prrt2 proline rich transmembrane protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8719809 Prrt2 proline rich transmembrane protein 2 gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:1602444 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:14615364|PMID:18836449|PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:25073507|PMID:2825199|PMID:28492532 8719809 Prrt2 proline rich transmembrane protein 2 gene DOID:9007283 Familial Infantile Convulsions and Paroxysmal Choreoathetosis ISO RGD:1602444 D RGD:7240710 20180130 OMIM 8719809 Prrt2 proline rich transmembrane protein 2 gene DOID:9007283 Familial Infantile Convulsions and Paroxysmal Choreoathetosis ISO RGD:1602444 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Convulsions, infantile, with paroxysmal choreoathetosis, familial | ClinVar Annotator: match by term: PAROXYSMAL KINESIGENIC DYSKINESIA WITH INFANTILE CONVULSIONS PMID:11179027|PMID:11346027|PMID:16199547|PMID:18414213|PMID:20301633|PMID:22101681|PMID:22120146|PMID:22131361|PMID:22209761|PMID:22243967|PMID:22399141|PMID:22464846|PMID:22623405|PMID:22744660|PMID:22752065|PMID:22782515|PMID:22832103|PMID:22845787|PMID:22870186|PMID:22875091|PMID:22877996|PMID:22902309|PMID:23077016|PMID:23077017|PMID:23077024|PMID:23077026|PMID:23126439|PMID:23180180|PMID:23182655|PMID:23190448|PMID:23299620|PMID:23352743|PMID:23363396|PMID:23551744|PMID:23566103|PMID:23768507|PMID:23771590|PMID:24074546|PMID:24101679|PMID:24370076|PMID:24465263|PMID:24594579|PMID:24609974|PMID:24755245|PMID:24928127|PMID:25060993|PMID:25167861|PMID:25449067|PMID:25457817|PMID:25502464|PMID:25522171|PMID:25667652|PMID:25741868|PMID:25915028|PMID:26446061|PMID:26467025|PMID:26561923|PMID:26598493|PMID:26598494|PMID:27172900|PMID:27173777|PMID:28074849|PMID:28492532|PMID:28906077|PMID:29132464|PMID:29215089|PMID:29334453|PMID:31124310|PMID:31722684|PMID:32651081|PMID:33126486|PMID:33661484|PMID:34041212|PMID:34782754|PMID:35428900|PMID:36247910|PMID:36467477|PMID:37476319|PMID:37793168|PMID:37880614|PMID:37884687|PMID:38778723|PMID:39825153 8719809 Prrt2 proline rich transmembrane protein 2 gene DOID:9007956 Febrile Seizures ISO RGD:1602444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Complex febrile seizure PMID:28492532 8719809 Prrt2 proline rich transmembrane protein 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1602444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 8719809 Prrt2 proline rich transmembrane protein 2 gene DOID:9009225 Episodic Kinesigenic Dyskinesia ISO RGD:1602444 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia PMID:11179027|PMID:11346027|PMID:14615364|PMID:16199547|PMID:17576681|PMID:18414213|PMID:18836449|PMID:19914906|PMID:20301633|PMID:2131349|PMID:21937992|PMID:22101681|PMID:22120146|PMID:22131361|PMID:22209761|PMID:22243967|PMID:22399141|PMID:22464846|PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:22752065|PMID:22782515|PMID:22832103|PMID:22845787|PMID:22870186|PMID:22875091|PMID:22877996|PMID:22895590|PMID:22902309|PMID:23063574|PMID:23077016|PMID:23077017|PMID:23077024|PMID:23077026|PMID:23126439|PMID:23180180|PMID:23182655|PMID:23190448|PMID:23299620|PMID:23352743|PMID:23363396|PMID:23436308|PMID:23456995|PMID:23496026|PMID:23529024|PMID:23551744|PMID:23566103|PMID:23768507|PMID:23771590|PMID:24074546|PMID:24101679|PMID:24370076|PMID:24372385|PMID:24465263|PMID:24594579|PMID:24609974|PMID:24755245|PMID:24811917|PMID:24828792|PMID:24886244|PMID:24928127|PMID:25060993|PMID:25073507|PMID:25167861|PMID:25421402|PMID:25449067|PMID:25457817|PMID:25502464|PMID:25522171|PMID:25667652|PMID:25741868|PMID:25915028|PMID:26384010|PMID:26446061|PMID:26467025|PMID:26561923|PMID:26598493|PMID:26598494|PMID:26629640|PMID:26742926|PMID:26867511|PMID:26935445|PMID:26944167|PMID:27123484|PMID:27172900|PMID:27173777|PMID:27624551|PMID:28074849|PMID:2825199|PMID:28492532|PMID:28525812|PMID:28906077|PMID:29132464|PMID:29167286|PMID:29215089|PMID:29334453|PMID:29655203|PMID:29801903|PMID:30034362|PMID:30198221|PMID:30386286|PMID:30392205|PMID:30635245|PMID:30980674|PMID:31124310|PMID:31130284|PMID:31154286|PMID:31302675|PMID:31589614|PMID:31722684|PMID:31801583|PMID:31901402|PMID:32346475|PMID:32392383|PMID:32651081|PMID:32906206|PMID:33126486|PMID:33550051|PMID:33661484|PMID:34041212|PMID:34298454|PMID:34298581|PMID:34649875|PMID:34782754|PMID:34825340|PMID:35083789|PMID:35428900|PMID:36247910|PMID:36467477|PMID:37271286|PMID:37476319|PMID:37793168|PMID:37880614|PMID:37884687|PMID:38778723|PMID:39825153|PMID:9536098 8719858 Vil1 villin 1 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1316011 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 8719858 Vil1 villin 1 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1316011 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 8719858 Vil1 villin 1 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1316011 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 8719858 Vil1 villin 1 gene DOID:13580 cholestasis ISO RGD:1316011 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 8719858 Vil1 villin 1 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1316011 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 8719858 Vil1 villin 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316011 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8719892 Tll1 tolloid like 1 gene DOID:0110111 atrial heart septal defect 6 ISO RGD:1314549 D RGD:7240710 20180130 OMIM 8719892 Tll1 tolloid like 1 gene DOID:0110111 atrial heart septal defect 6 ISO RGD:1314549 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Atrial septal defect 6 | ClinVar Annotator: match by term: TLL1-related condition PMID:10331975|PMID:18830233|PMID:25741868|PMID:28492532|PMID:31570783|PMID:37673932 8719892 Tll1 tolloid like 1 gene DOID:1681 heart septal defect ISO RGD:1550401 D RGD:9068941 20230202 RGD PMID:10331975|REF_RGD_ID:155882595 8719892 Tll1 tolloid like 1 gene DOID:1682 congenital heart disease ISO RGD:1314549 D RGD:9068941 20230202 RGD DNA:insertion:exon:exon 10 (human) PMID:22883091|REF_RGD_ID:155882571 8719892 Tll1 tolloid like 1 gene DOID:3393 coronary artery disease severity ISO RGD:1314549 D RGD:9068941 20230202 RGD associated with type 2 diabetes:DNA:SNP:CDS:rs1503298 (human) PMID:21911782|REF_RGD_ID:155883159 8719927 Tenm3 teneurin transmembrane protein 3 gene DOID:0080820 occupational asthma ISO RGD:1315371 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25918132 8719927 Tenm3 teneurin transmembrane protein 3 gene DOID:2661 myoepithelioma ISO RGD:1315371 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 8719927 Tenm3 teneurin transmembrane protein 3 gene DOID:630 genetic disease ISO RGD:1315371 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30513139 8719927 Tenm3 teneurin transmembrane protein 3 gene DOID:9001920 Microphthalmia/Coloboma 9 ISO RGD:1315371 D RGD:7240710 20180130 OMIM 8719927 Tenm3 teneurin transmembrane protein 3 gene DOID:9001920 Microphthalmia/Coloboma 9 ISO RGD:1315371 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: MICROPHTHALMIA, SYNDROMIC 15 | ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 9 | ClinVar Annotator: match by term: TENM3-related condition PMID:22766609|PMID:25741868|PMID:27103084|PMID:28492532|PMID:29753094|PMID:30513139|PMID:32799327|PMID:33456446 8719927 Tenm3 teneurin transmembrane protein 3 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1315371 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 8719927 Tenm3 teneurin transmembrane protein 3 gene DOID:9849 Meniere's disease ISO RGD:1315371 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Meniere disease 8719927 Tenm3 teneurin transmembrane protein 3 gene DOID:9975 cocaine dependence susceptibility ISO RGD:1315371 D RGD:9068941 20231102 RGD DNA:SNP:: (rs1514483) (human) PMID:18438686|REF_RGD_ID:401851917 8719963 Slc24a5 solute carrier family 24 member 5 gene DOID:0050632 oculocutaneous albinism ISO RGD:1321543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oculocutaneous albinism PMID:16199547|PMID:23985994|PMID:24033266|PMID:26686029|PMID:28492532 8719963 Slc24a5 solute carrier family 24 member 5 gene DOID:0050633 ocular albinism 1 ISO RGD:1553523 D RGD:9068941 20220825 MouseDO OMIM:300500 8719963 Slc24a5 solute carrier family 24 member 5 gene DOID:0080614 oculocutaneous albinism type VI ISO RGD:1321543 D RGD:7240710 20180130 OMIM 8719963 Slc24a5 solute carrier family 24 member 5 gene DOID:0080614 oculocutaneous albinism type VI ISO RGD:1321543 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Albinism, oculocutaneous, type VI | ClinVar Annotator: match by term: SLC24A5-related condition PMID:16199547|PMID:23364476|PMID:23985994|PMID:25741868|PMID:26491832|PMID:26686029|PMID:28492532|PMID:31077556 8719963 Slc24a5 solute carrier family 24 member 5 gene DOID:14323 Marfan syndrome ISO RGD:1321543 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:16571647|PMID:16905551|PMID:17701892|PMID:19349279|PMID:21063442|PMID:25741868|PMID:26787436|PMID:28492532 8719963 Slc24a5 solute carrier family 24 member 5 gene DOID:2717 Bloom syndrome ISO RGD:1321543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8719963 Slc24a5 solute carrier family 24 member 5 gene DOID:630 genetic disease ISO RGD:1321543 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23985994|PMID:26686029|PMID:28492532 8719963 Slc24a5 solute carrier family 24 member 5 gene DOID:9001735 Skin/Hair/Eye Pigmentation, Variation In, 4 ISO RGD:1321543 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 4 PMID:16357253|PMID:17999355|PMID:23010199|PMID:25741868|PMID:29025994 8719963 Slc24a5 solute carrier family 24 member 5 gene DOID:9256 colorectal cancer ISO RGD:1321543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8719979 Srp14 signal recognition particle 14 gene DOID:0080141 mosaic variegated aneuploidy syndrome 1 ISO RGD:1318313 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 PMID:28492532 8719979 Srp14 signal recognition particle 14 gene DOID:2717 Bloom syndrome ISO RGD:1318313 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8719979 Srp14 signal recognition particle 14 gene DOID:9256 colorectal cancer ISO RGD:1318313 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8719989 Ganab glucosidase II alpha subunit gene DOID:0050770 polycystic liver disease ISO RGD:1320293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver PMID:25741868|PMID:28492532|PMID:33097077 8719989 Ganab glucosidase II alpha subunit gene DOID:0060980 polycystic liver disease 1 ISO RGD:1320293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease | ClinVar Annotator: match by term: Isolated polycystic liver disease PMID:25741868|PMID:28492532|PMID:33097077 8719989 Ganab glucosidase II alpha subunit gene DOID:0080322 polycystic kidney disease ISO RGD:1320293 D RGD:9068941 20200609 RGD DNA:mutations: : PMID:27259053|REF_RGD_ID:11352639 8719989 Ganab glucosidase II alpha subunit gene DOID:0080575 Larsen-like syndrome B3GAT3 type ISO RGD:1320293 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type PMID:28492532 8719989 Ganab glucosidase II alpha subunit gene DOID:0110860 polycystic kidney disease 3 ISO RGD:1320293 D RGD:7240710 20190315 OMIM 8719989 Ganab glucosidase II alpha subunit gene DOID:0110860 polycystic kidney disease 3 ISO RGD:1320293 D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: GANAB-related condition | ClinVar Annotator: match by term: PKD3 | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE 3 WITH POLYCYSTIC LIVER DISEASE | ClinVar Annotator: match by term: Polycystic kidney disease 3 with or without polycystic liver disease PMID:25741868|PMID:27259053|PMID:28492532|PMID:30333007|PMID:33097077|PMID:33437033 8719989 Ganab glucosidase II alpha subunit gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1320293 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8719989 Ganab glucosidase II alpha subunit gene DOID:1059 intellectual disability ISO RGD:1320293 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8719989 Ganab glucosidase II alpha subunit gene DOID:630 genetic disease ISO RGD:1320293 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30333007 8719989 Ganab glucosidase II alpha subunit gene DOID:784 chronic kidney disease ISO RGD:1320293 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:25741868|PMID:28492532 8719989 Ganab glucosidase II alpha subunit gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1320293 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease 8719989 Ganab glucosidase II alpha subunit gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1320293 D RGD:9068941 20240912 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 8720025 Puf60 poly(U) binding splicing factor 60 gene DOID:0050834 CHARGE syndrome ISO RGD:731253 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CHARGE syndrome PMID:25741868|PMID:29300383 8720025 Puf60 poly(U) binding splicing factor 60 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:731253 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 8720025 Puf60 poly(U) binding splicing factor 60 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:731253 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 8720025 Puf60 poly(U) binding splicing factor 60 gene DOID:4621 holoprosencephaly ISO RGD:731253 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 8720025 Puf60 poly(U) binding splicing factor 60 gene DOID:630 genetic disease ISO RGD:731253 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28074499|PMID:28327570|PMID:28471317|PMID:28492532|PMID:33057194|PMID:35322241|PMID:35982159|PMID:36134573|PMID:36367278|PMID:37303278|PMID:39825153 8720025 Puf60 poly(U) binding splicing factor 60 gene DOID:9000637 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES ISO RGD:731253 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities PMID:25741868 8720025 Puf60 poly(U) binding splicing factor 60 gene DOID:9002170 Experimental Neoplasms ISO RGD:731253 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21435101 8720025 Puf60 poly(U) binding splicing factor 60 gene DOID:9003566 Mesothelioma ISO RGD:731253 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21435101 8720025 Puf60 poly(U) binding splicing factor 60 gene DOID:9003884 Recombinant Chromosome 8 Syndrome ISO RGD:731253 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Recombinant 8 syndrome PMID:31690835 8720025 Puf60 poly(U) binding splicing factor 60 gene DOID:9003952 Verheij Syndrome ISO RGD:731253 D RGD:7240710 20180130 OMIM 8720025 Puf60 poly(U) binding splicing factor 60 gene DOID:9003952 Verheij Syndrome ISO RGD:731253 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: CHROMOSOME 8q24.3 DELETION SYNDROME | ClinVar Annotator: match by term: Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome | ClinVar Annotator: match by term: Verheij syndrome PMID:18414213|PMID:24140112|PMID:25741868|PMID:27804958|PMID:28074499|PMID:28327570|PMID:28471317|PMID:28492532|PMID:28990276|PMID:29300383|PMID:30006928|PMID:30352594|PMID:32746448|PMID:33057194|PMID:35322241|PMID:35982159|PMID:36134573|PMID:36367278|PMID:37303278|PMID:38177409|PMID:39825153 8720025 Puf60 poly(U) binding splicing factor 60 gene DOID:9004226 Hittner Hirsch Kreh Syndrome ISO RGD:731253 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome PMID:25741868|PMID:29300383 8720025 Puf60 poly(U) binding splicing factor 60 gene DOID:9005749 Necrosis ISO RGD:731253 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21435101 8720045 Slc22a4 solute carrier family 22 member 4 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease treatment ISO RGD:621149 D RGD:9068941 20250130 RGD PMID:32429274|REF_RGD_ID:597538527 8720045 Slc22a4 solute carrier family 22 member 4 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:733281 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8720045 Slc22a4 solute carrier family 22 member 4 gene DOID:14365 systemic primary carnitine deficiency disease ISO RGD:733281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal carnitine transport defect PMID:20574985|PMID:28492532 8720045 Slc22a4 solute carrier family 22 member 4 gene DOID:3083 chronic obstructive pulmonary disease treatment ISO RGD:621149 D RGD:9068941 20250130 RGD PMID:32707498|REF_RGD_ID:597538521 8720045 Slc22a4 solute carrier family 22 member 4 gene DOID:7148 rheumatoid arthritis ISO RGD:733281 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Rheumatoid arthritis | ClinVar Annotator: match by term: SLC22A4-related condition PMID:14608356|PMID:19881261|PMID:25741868|PMID:26467025|PMID:28492532 8720045 Slc22a4 solute carrier family 22 member 4 gene DOID:7148 rheumatoid arthritis susceptibility ISO RGD:733281 D RGD:7240710 20190329 OMIM 8720045 Slc22a4 solute carrier family 22 member 4 gene DOID:820 myocarditis ISO RGD:733281 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21641380 8720045 Slc22a4 solute carrier family 22 member 4 gene DOID:9000220 Coxsackievirus Infections ISO RGD:733281 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21641380 8720045 Slc22a4 solute carrier family 22 member 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8720045 Slc22a4 solute carrier family 22 member 4 gene DOID:9004538 Hearing Loss ISO RGD:733281 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary hearing loss and deafness PMID:27023905|PMID:28492532|PMID:33643381|PMID:34194829 8720045 Slc22a4 solute carrier family 22 member 4 gene DOID:9006549 Enterovirus Infections ISO RGD:733281 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21641380 8720045 Slc22a4 solute carrier family 22 member 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 8720045 Slc22a4 solute carrier family 22 member 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733281 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8720063 Gpr35 G protein-coupled receptor 35 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1319732 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8720063 Gpr35 G protein-coupled receptor 35 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1319732 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8720063 Gpr35 G protein-coupled receptor 35 gene DOID:0111670 primary hyperoxaluria type 1 ISO RGD:1319732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:22821680 8720063 Gpr35 G protein-coupled receptor 35 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1319732 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 8720063 Gpr35 G protein-coupled receptor 35 gene DOID:1059 intellectual disability ISO RGD:1319732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8720063 Gpr35 G protein-coupled receptor 35 gene DOID:9001550 Bethlem Myopathy 1A ISO RGD:1319732 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1A PMID:26004199|PMID:28492532 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:0050589 inflammatory bowel disease ISO RGD:1314945 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Regional enteritis PMID:11385576|PMID:11385577|PMID:11425413|PMID:11875755|PMID:11910337|PMID:12019468|PMID:12512038|PMID:12650796|PMID:12673278|PMID:12704363|PMID:15002819|PMID:15024686|PMID:15044951|PMID:15190267|PMID:15198989|PMID:15571588|PMID:15712650|PMID:16010583|PMID:16416181|PMID:16669960|PMID:17301648|PMID:17489054|PMID:18240302|PMID:18489434|PMID:18942754|PMID:19103559|PMID:19184348|PMID:19184350|PMID:19185283|PMID:19349988|PMID:19397946|PMID:19641059|PMID:19713276|PMID:19748964|PMID:20047977|PMID:20332463|PMID:20713205|PMID:21335489|PMID:21460759|PMID:21548950|PMID:21565239|PMID:21745302|PMID:21951874|PMID:21983784|PMID:21994160|PMID:22275320|PMID:22319155|PMID:22344438|PMID:22440928|PMID:22543157|PMID:22684479|PMID:22939045|PMID:23128233|PMID:23173613|PMID:23334666|PMID:23615072|PMID:23633568|PMID:23709157|PMID:24047397|PMID:24345423|PMID:24586700|PMID:24597572|PMID:25365249|PMID:25741868|PMID:26042516|PMID:26167078|PMID:26500656|PMID:27306066|PMID:27373512|PMID:28008999|PMID:28422189|PMID:28492532|PMID:28658209|PMID:28750667|PMID:29178652|PMID:29248579|PMID:29321258|PMID:29446656|PMID:29795570|PMID:29867916|PMID:30166421|PMID:30167848|PMID:30552907|PMID:30553995|PMID:31681265|PMID:32597225|PMID:32716958|PMID:33394828 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:0050589 inflammatory bowel disease ISO RGD:1314945 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Regional enteritis PMID:11385576|PMID:11385577|PMID:11425413|PMID:11875755|PMID:11910337|PMID:12019468|PMID:12512038|PMID:12626759|PMID:12630966|PMID:12650796|PMID:12673278|PMID:12704363|PMID:15002819|PMID:15024686|PMID:15044951|PMID:15190267|PMID:15198989|PMID:15571588|PMID:15712650|PMID:16010583|PMID:16278823|PMID:16416181|PMID:16485124|PMID:16669960|PMID:17301648|PMID:17489054|PMID:18240302|PMID:18489434|PMID:18942754|PMID:19103559|PMID:19184348|PMID:19184350|PMID:19185283|PMID:19349988|PMID:19397946|PMID:19641059|PMID:19713276|PMID:19748964|PMID:20032092|PMID:20047977|PMID:20332463|PMID:20713205|PMID:21335489|PMID:21460759|PMID:21548950|PMID:21565239|PMID:21745302|PMID:21951874|PMID:21983784|PMID:21994160|PMID:22275320|PMID:22319155|PMID:22344438|PMID:22440928|PMID:22543157|PMID:22684479|PMID:22926499|PMID:22939045|PMID:23128233|PMID:23173613|PMID:23334666|PMID:23615072|PMID:23633568|PMID:23709157|PMID:24047397|PMID:24345423|PMID:24586700|PMID:24597572|PMID:25365249|PMID:25741868|PMID:26042516|PMID:26167078|PMID:26316104|PMID:26500656|PMID:27306066|PMID:27373512|PMID:28008999|PMID:28422189|PMID:28492532|PMID:28658209|PMID:28750667|PMID:29178652|PMID:29248579|PMID:29321258|PMID:29446656|PMID:29795570|PMID:29867916|PMID:30166421|PMID:30167848|PMID:30552907|PMID:30553995|PMID:31681265|PMID:32463623|PMID:32597225|PMID:32716958|PMID:33394828 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:0050678 Blau syndrome ISO RGD:1314945 D RGD:7240710 20180130 OMIM 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:0050678 Blau syndrome ISO RGD:1314945 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Blau syndrome | ClinVar Annotator: match by term: Jabs syndrome PMID:11385576|PMID:11385577|PMID:11425413|PMID:11528384|PMID:11875755|PMID:11910337|PMID:12019468|PMID:12115249|PMID:12202985|PMID:12512038|PMID:12557156|PMID:12577202|PMID:12626759|PMID:12630966|PMID:12650796|PMID:12673278|PMID:12704363|PMID:14508222|PMID:14522785|PMID:14765395|PMID:15002819|PMID:15024686|PMID:15044951|PMID:15086578|PMID:15190267|PMID:15198989|PMID:15320482|PMID:15459013|PMID:15554080|PMID:15571588|PMID:15620648|PMID:15712650|PMID:15770725|PMID:15812565|PMID:15967635|PMID:15998797|PMID:16010583|PMID:16199547|PMID:16278823|PMID:16416181|PMID:16485124|PMID:16669960|PMID:16804397|PMID:17157607|PMID:17207093|PMID:17301648|PMID:17393391|PMID:17489054|PMID:17576681|PMID:17968944|PMID:18056399|PMID:18240302|PMID:18419343|PMID:18489434|PMID:18507017|PMID:18541930|PMID:18718560|PMID:18942754|PMID:18955195|PMID:19103559|PMID:19116920|PMID:19184348|PMID:19184350|PMID:19185283|PMID:19349988|PMID:19397946|PMID:19467619|PMID:19479836|PMID:19479837|PMID:19641059|PMID:19713276|PMID:19748964|PMID:20032092|PMID:20039400|PMID:20047977|PMID:20084402|PMID:20199415|PMID:20230816|PMID:20332463|PMID:20565245|PMID:20713205|PMID:20959815|PMID:21097508|PMID:21274544|PMID:21335489|PMID:21460759|PMID:21548950|PMID:21565239|PMID:21596301|PMID:21745302|PMID:21830272|PMID:21914217|PMID:21951874|PMID:21983784|PMID:21994160|PMID:22275320|PMID:22319155|PMID:22344438|PMID:22377804|PMID:22440928|PMID:22509093|PMID:22543157|PMID:22684479|PMID:22859352|PMID:22926499|PMID:22939045|PMID:22942351|PMID:23102769|PMID:23128233|PMID:23173613|PMID:23334666|PMID:23615072|PMID:23633568|PMID:23709157|PMID:24033266|PMID:24047397|PMID:24345423|PMID:24391456|PMID:24583628|PMID:24586700|PMID:24595243|PMID:24597572|PMID:24713464|PMID:24803813|PMID:24876985|PMID:25093298|PMID:25136265|PMID:25209167|PMID:25365249|PMID:25416713|PMID:25429073|PMID:25619344|PMID:25741868|PMID:25829188|PMID:26042516|PMID:26070941|PMID:26164256|PMID:26167078|PMID:26316104|PMID:26500656|PMID:26606664|PMID:26768519|PMID:26774591|PMID:27306066|PMID:27339507|PMID:27373512|PMID:27419275|PMID:27625029|PMID:28008999|PMID:28130683|PMID:28422189|PMID:28492532|PMID:28639104|PMID:28658209|PMID:28750667|PMID:28814775|PMID:28836875|PMID:29178652|PMID:29248579|PMID:29321258|PMID:29446656|PMID:29697845|PMID:29795570|PMID:29867916|PMID:30159790|PMID:30166421|PMID:30167848|PMID:30552907|PMID:30553995|PMID:30574935|PMID:30693132|PMID:30783801|PMID:30806112|PMID:31681265|PMID:32346654|PMID:32463623|PMID:32597225|PMID:32647028|PMID:32707200|PMID:32716958|PMID:33042144|PMID:33394828|PMID:33692434|PMID:34251956|PMID:34440800|PMID:34573280|PMID:35273242|PMID:35314268|PMID:7825454|PMID:9124059|PMID:9536098 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:0050678 Blau syndrome susceptibility ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:snp:cds:p.E383G (human) PMID:19116920|REF_RGD_ID:8158051 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:0050678 Blau syndrome susceptibility ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:snp:cds:p.E383K (human) PMID:15812565|REF_RGD_ID:8547515 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:0050678 Blau syndrome susceptibility ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:snps:cds:p.R334Q, p.R334W, p.L469F (human) PMID:11528384|REF_RGD_ID:8158040 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:0050678 Blau syndrome susceptibility ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:snps:cds:p.R587C, p.C495Y, p.W490L (human) PMID:19479837|REF_RGD_ID:8547518 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:0050861 colorectal adenocarcinoma susceptibility ISO RGD:1314945 D RGD:9068941 20220513 RGD DNA:SNP:3'utr: (rs3135499) C>A (human) PMID:27354594|REF_RGD_ID:152177496 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:0050887 Townes-Brocks syndrome ISO RGD:1314945 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Townes syndrome PMID:12915476|PMID:16088922|PMID:16429401|PMID:22308078|PMID:23069192|PMID:25336016|PMID:28492532|PMID:9973281 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:0050922 gastrointestinal carcinoma ISO RGD:1314945 D RGD:9068941 20200609 RGD associated with Helicobacter Infections;DNA:SNP: :c.802C>T (human) PMID:20230816|REF_RGD_ID:5508759 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:0060180 colitis ISO RGD:1306368 D RGD:9068941 20200609 RGD mRNA:increased expression:colon PMID:16891783|REF_RGD_ID:1600781 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:0060180 colitis ISO RGD:1314946 D RGD:9068941 20200609 RGD PMID:20921147|PMID:21471573|REF_RGD_ID:5508727|REF_RGD_ID:5508755 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:0060578 Noonan syndrome 1 ISO RGD:1314945 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Noonan syndrome 1 PMID:25741868 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:0080176 meningococcal meningitis susceptibility ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:SNP,haplotype: :SNP8(human) PMID:23691182|REF_RGD_ID:7800668 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:0081267 graft-versus-host disease severity ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:snps, insertion:exons:p.R675W, p.G1881R, c.2936_2937insC (human) PMID:15090455|REF_RGD_ID:8158050 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:0081451 PFAPA syndrome ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:mutations:cds PMID:21914217|REF_RGD_ID:13204855 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:0110430 dilated cardiomyopathy 1G ISO RGD:1314945 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:25741868 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:0110892 inflammatory bowel disease 1 ISO RGD:1314945 D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 1 PMID:11385576|PMID:11385577|PMID:11425413|PMID:11528384|PMID:11875755|PMID:11910337|PMID:12019468|PMID:12512038|PMID:12557156|PMID:12577202|PMID:12626759|PMID:12630966|PMID:12650796|PMID:12673278|PMID:12704363|PMID:14508222|PMID:14765395|PMID:15002819|PMID:15024686|PMID:15044951|PMID:15190267|PMID:15198989|PMID:15320482|PMID:15459013|PMID:15571588|PMID:15712650|PMID:15770725|PMID:15967635|PMID:16010583|PMID:16199547|PMID:16278823|PMID:16416181|PMID:16485124|PMID:16669960|PMID:16804397|PMID:17301648|PMID:17489054|PMID:18056399|PMID:18240302|PMID:18419343|PMID:18489434|PMID:18507017|PMID:18541930|PMID:18942754|PMID:19103559|PMID:19184348|PMID:19184350|PMID:19185283|PMID:19349988|PMID:19397946|PMID:19467619|PMID:19641059|PMID:19713276|PMID:19748964|PMID:20032092|PMID:20047977|PMID:20230816|PMID:20332463|PMID:20713205|PMID:20959815|PMID:21274544|PMID:21335489|PMID:21460759|PMID:21548950|PMID:21565239|PMID:21745302|PMID:21830272|PMID:21914217|PMID:21951874|PMID:21983784|PMID:21994160|PMID:22275320|PMID:22319155|PMID:22344438|PMID:22377804|PMID:22440928|PMID:22543157|PMID:22684479|PMID:22926499|PMID:22939045|PMID:22942351|PMID:23102769|PMID:23128233|PMID:23173613|PMID:23615072|PMID:23633568|PMID:23709157|PMID:24033266|PMID:24047397|PMID:24345423|PMID:24391456|PMID:24583628|PMID:24586700|PMID:24597572|PMID:24803813|PMID:25365249|PMID:25416713|PMID:25741868|PMID:26042516|PMID:26070941|PMID:26164256|PMID:26167078|PMID:26316104|PMID:26500656|PMID:26768519|PMID:27306066|PMID:27373512|PMID:27419275|PMID:28008999|PMID:28422189|PMID:28492532|PMID:28658209|PMID:28750667|PMID:28814775|PMID:29178652|PMID:29248579|PMID:29321258|PMID:29446656|PMID:29795570|PMID:29867916|PMID:30166421|PMID:30167848|PMID:30552907|PMID:30553995|PMID:31681265|PMID:32463623|PMID:32597225|PMID:32716958 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:0111122 nephronophthisis 14 ISO RGD:1314945 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Nephronophthisis 14 PMID:12915476|PMID:16088922|PMID:16429401|PMID:22308078|PMID:23069192|PMID:25336016|PMID:28492532|PMID:9973281 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:1024 leprosy ISO RGD:1314945 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 PMID:25741868 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:104 bacterial infectious disease ISO RGD:1314946 D RGD:9068941 20200609 RGD associated with Virus Diseases PMID:21669398|REF_RGD_ID:5508748 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:10457 Legionnaires' disease ISO RGD:1314946 D RGD:9068941 20200609 RGD PMID:20685341|REF_RGD_ID:5131443 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:11729 Lyme disease ISO RGD:1314946 D RGD:9068941 20200609 RGD PMID:21387014|REF_RGD_ID:5508754 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:13141 uveitis ISO RGD:1314946 D RGD:9068941 20200609 RGD PMID:21296813|REF_RGD_ID:5508729 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:1324 lung cancer susceptibility ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:insertion: : 3020_3021insC (human) PMID:16267612|REF_RGD_ID:5131514 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:13241 Behcet's disease ISO RGD:1314945 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Behcet disease PMID:28492532 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:13241 Behcet's disease no_association ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:mutations:cds:p.G908R,p.R702W,p.L1007fsinsC(human) PMID:15515785|REF_RGD_ID:13204711 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:13241 Behcet's disease susceptibility ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:snp, insertion:exons:p.R702W, p.L1007insC (human) PMID:19748964|REF_RGD_ID:8158059 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:13406 pulmonary sarcoidosis disease_progression ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:2104C>T (human) PMID:19679608|REF_RGD_ID:4892066 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:1612 breast cancer susceptibility ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:insertion: : 3020_3021insC (human) PMID:16267612|REF_RGD_ID:5131514 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:1936 atherosclerosis ISO RGD:1314946 D RGD:9068941 20200609 RGD PMID:24324141|REF_RGD_ID:8158039 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:224 transient cerebral ischemia ISO RGD:1314946 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:20863826|REF_RGD_ID:5508733 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:2280 hidradenitis suppurativa ISO RGD:1314945 D RGD:9068941 20240912 CTD CTD Direct Evidence: marker/mechanism PMID:27106250 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:2378 relapsing-remitting multiple sclerosis disease_progression ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:SNPs: :rs3135499,rs2066842(human) PMID:20595247|REF_RGD_ID:13204725 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:2394 ovarian cancer ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:insertion:Cds: 3020_3021insC (human) PMID:20223031|REF_RGD_ID:5131515 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:2596 larynx cancer onset ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:insertion:Cds: 3020_3021insC (human) PMID:20223031|REF_RGD_ID:5131515 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:2723 dermatitis ISO RGD:1314945 D RGD:9068941 20240912 CTD CTD Direct Evidence: marker/mechanism PMID:19467619 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:2799 bronchiolitis obliterans ISO RGD:1314945 D RGD:9068941 20200609 RGD PMID:18158963|REF_RGD_ID:5131450 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:2841 asthma ISO RGD:1314946 D RGD:9068941 20200609 RGD PMID:21051079|REF_RGD_ID:5508757 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:2841 asthma susceptibility ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:polymorphisms:intron, exon/3'UTR (rs1077861, rs3135500) (human) PMID:16008671|REF_RGD_ID:5131477 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1314945 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:11385576|PMID:11385577|PMID:11425413|PMID:11875755|PMID:11910337|PMID:12019468|PMID:12115249|PMID:12202985|PMID:12512038|PMID:12557156|PMID:12577202|PMID:12626759|PMID:12650796|PMID:12673278|PMID:12704363|PMID:14508222|PMID:14765395|PMID:15002819|PMID:15024686|PMID:15044951|PMID:15190267|PMID:15198989|PMID:15320482|PMID:15571588|PMID:15712650|PMID:15770725|PMID:15967635|PMID:16010583|PMID:16199547|PMID:16278823|PMID:16416181|PMID:16485124|PMID:16669960|PMID:17301648|PMID:17489054|PMID:17576681|PMID:18240302|PMID:18419343|PMID:18489434|PMID:18507017|PMID:18541930|PMID:18942754|PMID:19103559|PMID:19184348|PMID:19184350|PMID:19185283|PMID:19349988|PMID:19397946|PMID:19467619|PMID:19641059|PMID:19713276|PMID:19748964|PMID:20032092|PMID:20047977|PMID:20230816|PMID:20332463|PMID:20713205|PMID:20959815|PMID:21274544|PMID:21335489|PMID:21460759|PMID:21548950|PMID:21565239|PMID:21745302|PMID:21830272|PMID:21914217|PMID:21951874|PMID:21983784|PMID:21994160|PMID:22275320|PMID:22319155|PMID:22344438|PMID:22440928|PMID:22543157|PMID:22684479|PMID:22859352|PMID:22939045|PMID:22942351|PMID:23102769|PMID:23128233|PMID:23173613|PMID:23615072|PMID:23633568|PMID:23709157|PMID:24033266|PMID:24047397|PMID:24345423|PMID:24391456|PMID:24583628|PMID:24586700|PMID:24597572|PMID:24803813|PMID:25093298|PMID:25209167|PMID:25365249|PMID:25416713|PMID:25741868|PMID:26042516|PMID:26070941|PMID:26164256|PMID:26167078|PMID:26316104|PMID:26500656|PMID:26774591|PMID:27306066|PMID:27373512|PMID:28008999|PMID:28166811|PMID:28422189|PMID:28492532|PMID:28658209|PMID:28750667|PMID:28814775|PMID:29178652|PMID:29248579|PMID:29321258|PMID:29446656|PMID:29795570|PMID:29867916|PMID:30159790|PMID:30166421|PMID:30167848|PMID:30552907|PMID:30553995|PMID:31681265|PMID:32463623|PMID:32597225|PMID:32716958|PMID:9536098 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1314945 D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:11385576|PMID:11385577|PMID:11425413|PMID:11875755|PMID:11910337|PMID:12019468|PMID:12202985|PMID:12512038|PMID:12557156|PMID:12577202|PMID:12626759|PMID:12650796|PMID:12673278|PMID:12704363|PMID:14508222|PMID:14765395|PMID:15002819|PMID:15024686|PMID:15044951|PMID:15190267|PMID:15198989|PMID:15320482|PMID:15571588|PMID:15712650|PMID:15770725|PMID:15967635|PMID:16010583|PMID:16199547|PMID:16278823|PMID:16416181|PMID:16485124|PMID:16669960|PMID:17301648|PMID:17489054|PMID:17576681|PMID:18240302|PMID:18419343|PMID:18489434|PMID:18507017|PMID:18541930|PMID:18942754|PMID:19103559|PMID:19184348|PMID:19184350|PMID:19185283|PMID:19349988|PMID:19397946|PMID:19467619|PMID:19641059|PMID:19713276|PMID:19748964|PMID:20032092|PMID:20047977|PMID:20230816|PMID:20332463|PMID:20713205|PMID:20959815|PMID:21274544|PMID:21335489|PMID:21460759|PMID:21548950|PMID:21565239|PMID:21745302|PMID:21830272|PMID:21914217|PMID:21951874|PMID:21983784|PMID:21994160|PMID:22275320|PMID:22319155|PMID:22344438|PMID:22440928|PMID:22543157|PMID:22684479|PMID:22859352|PMID:22939045|PMID:22942351|PMID:23102769|PMID:23128233|PMID:23173613|PMID:23615072|PMID:23633568|PMID:23709157|PMID:24033266|PMID:24047397|PMID:24345423|PMID:24391456|PMID:24583628|PMID:24586700|PMID:24597572|PMID:24803813|PMID:25093298|PMID:25209167|PMID:25365249|PMID:25416713|PMID:25741868|PMID:26042516|PMID:26070941|PMID:26164256|PMID:26167078|PMID:26316104|PMID:26500656|PMID:26774591|PMID:27306066|PMID:27373512|PMID:28008999|PMID:28422189|PMID:28492532|PMID:28658209|PMID:28750667|PMID:28814775|PMID:29178652|PMID:29248579|PMID:29321258|PMID:29446656|PMID:29795570|PMID:29867916|PMID:30159790|PMID:30166421|PMID:30167848|PMID:30552907|PMID:30553995|PMID:31681265|PMID:32463623|PMID:32597225|PMID:32716958|PMID:9536098 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:SNPs:CDs:p.P268S, R702W, A725G (human) PMID:18419343|REF_RGD_ID:5131510 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:2987 familial Mediterranean fever severity ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:mutations:cds:p.G908R,p.R702W,p.L1007fsinsC(human) PMID:22244368|REF_RGD_ID:13204709 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:SNP:intron: (rs1077861) (human) PMID:21943069|REF_RGD_ID:5508720 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:3393 coronary artery disease ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.G908R, 3020_3021insC (human) PMID:21565239|REF_RGD_ID:5508725 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:1306368 D RGD:9068941 20200609 RGD PMID:24842554|REF_RGD_ID:13204729 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:4029 gastritis ISO RGD:1314945 D RGD:9068941 20200609 RGD associated with Helicobacter Infections;DNA:SNP: :c.802C>T (human) PMID:20230816|REF_RGD_ID:5508759 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:417 autoimmune disease ISO RGD:1314945 D RGD:9068941 20200609 RGD associated with Common Variable Immunodeficiency;DNA:missense mutation: :p.G908R (human) PMID:20646002|REF_RGD_ID:5508739 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:4481 allergic rhinitis ISO RGD:1314945 D RGD:9068941 20200609 RGD mRNA:increased expression:nasal mucosa (human) PMID:23858718|REF_RGD_ID:8547523 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:4483 rhinitis susceptibility ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:2104C>T,2722G>C (human) PMID:12704363|REF_RGD_ID:5131484 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:4989 pancreatitis ISO RGD:1306368 D RGD:9068941 20200609 RGD protein, mRNA:decreased expression:pancreas, blood cells PMID:20442679|REF_RGD_ID:5131438 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:5295 intestinal disease ISO RGD:1314945 D RGD:9068941 20200609 RGD associated with Common Variable Immunodeficiency;DNA:missense mutation: :p.G908R (human) PMID:20646002|REF_RGD_ID:5508739 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:630 genetic disease ISO RGD:1314945 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:19479836|PMID:25741868|PMID:28492532|PMID:33394828 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:6543 acne ISO RGD:1314945 D RGD:9068941 20240912 CTD CTD Direct Evidence: marker/mechanism PMID:27106250 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:8553 pyoderma gangrenosum ISO RGD:1314945 D RGD:9068941 20240912 CTD CTD Direct Evidence: marker/mechanism PMID:27106250 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:8577 ulcerative colitis ISO RGD:1314945 D RGD:9068941 20240912 CTD CTD Direct Evidence: marker/mechanism PMID:20452301 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:1314946 D RGD:9068941 20200609 RGD PMID:20580721|REF_RGD_ID:8547529 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:874 bacterial pneumonia ISO RGD:1314946 D RGD:9068941 20200609 RGD PMID:19360122|REF_RGD_ID:5131449 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:8778 Crohn's disease ISO RGD:1314945 D RGD:7240710 20180523 OMIM 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:8778 Crohn's disease ISO RGD:1314945 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Crohn disease | ClinVar Annotator: match by term: Enteritis, Granulomatous | ClinVar Annotator: match by term: Inflammatory bowel disease 1 PMID:11385576|PMID:11385577|PMID:11425413|PMID:11528384|PMID:11875755|PMID:11910337|PMID:12019468|PMID:12512038|PMID:12557156|PMID:12577202|PMID:12626759|PMID:12630966|PMID:12650796|PMID:12673278|PMID:12704363|PMID:14508222|PMID:14765395|PMID:15002819|PMID:15024686|PMID:15044951|PMID:15190267|PMID:15198989|PMID:15320482|PMID:15459013|PMID:15571588|PMID:15712650|PMID:15770725|PMID:15967635|PMID:16010583|PMID:16199547|PMID:16278823|PMID:16416181|PMID:16485124|PMID:16669960|PMID:16804397|PMID:17301648|PMID:17489054|PMID:18056399|PMID:18240302|PMID:18419343|PMID:18489434|PMID:18507017|PMID:18541930|PMID:18942754|PMID:19103559|PMID:19184348|PMID:19184350|PMID:19185283|PMID:19349988|PMID:19397946|PMID:19467619|PMID:19641059|PMID:19713276|PMID:19748964|PMID:20032092|PMID:20047977|PMID:20230816|PMID:20332463|PMID:20713205|PMID:20959815|PMID:21274544|PMID:21335489|PMID:21460759|PMID:21548950|PMID:21565239|PMID:21745302|PMID:21830272|PMID:21914217|PMID:21951874|PMID:21983784|PMID:21994160|PMID:22275320|PMID:22319155|PMID:22344438|PMID:22377804|PMID:22440928|PMID:22543157|PMID:22684479|PMID:22926499|PMID:22939045|PMID:22942351|PMID:23102769|PMID:23128233|PMID:23173613|PMID:23334666|PMID:23615072|PMID:23633568|PMID:23709157|PMID:24033266|PMID:24047397|PMID:24345423|PMID:24391456|PMID:24583628|PMID:24586700|PMID:24597572|PMID:24803813|PMID:25365249|PMID:25416713|PMID:25741868|PMID:26042516|PMID:26070941|PMID:26164256|PMID:26167078|PMID:26316104|PMID:26500656|PMID:26768519|PMID:27306066|PMID:27373512|PMID:27419275|PMID:28008999|PMID:28422189|PMID:28492532|PMID:28658209|PMID:28750667|PMID:28814775|PMID:29178652|PMID:29248579|PMID:29321258|PMID:29446656|PMID:29795570|PMID:29867916|PMID:30166421|PMID:30167848|PMID:30552907|PMID:30553995|PMID:31681265|PMID:32463623|PMID:32597225|PMID:32716958|PMID:33394828 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:8778 Crohn's disease no_association ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:missense mutations, frameshift mutation: :p.R702W, p.G908R, 3020_3021insC (human) PMID:21155887|REF_RGD_ID:5508730 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:8778 Crohn's disease susceptibility ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:frameshift mutation, missense mutations PMID:11385576|REF_RGD_ID:1600778 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:9000099 Experimental Colitis ISO RGD:1306368 D RGD:9068941 20200609 RGD protein:increased expression:colonic mucosa: PMID:22997830|REF_RGD_ID:13204727 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:9000113 Pneumococcal Meningitis ISO RGD:1314946 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:25443778|REF_RGD_ID:9831197 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:9000156 Metaplasia ISO RGD:1314945 D RGD:9068941 20200609 RGD associated with Helicobacter Infections;DNA:SNP: :c.802C>T (human) PMID:20230816|REF_RGD_ID:5508759 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:9001049 Staphylococcal Pneumonia ISO RGD:1314946 D RGD:9068941 20200609 RGD PMID:20493961|REF_RGD_ID:5131444 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:9002019 Granuloma ISO RGD:1314946 D RGD:9068941 20200609 RGD PMID:20679225|REF_RGD_ID:5508736 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:9002457 Experimental Arthritis ISO RGD:1314946 D RGD:9068941 20200609 RGD PMID:20131263|PMID:21424514|REF_RGD_ID:5508728|REF_RGD_ID:8552884 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:9002720 Splenomegaly susceptibility ISO RGD:1314945 D RGD:9068941 20200609 RGD associated with Common Variable Immunodeficiency;DNA:missense mutation:cds:p.R702W (rs2066844) (human) PMID:20646002|REF_RGD_ID:5508739 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:insertion:Cds: 3020_3021insC (human) PMID:20223031|REF_RGD_ID:5131515 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:9004009 Reperfusion Injury ISO RGD:1306368 D RGD:9068941 20200609 RGD protein:increased expression:small intestine PMID:20107953|REF_RGD_ID:5131440 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:9004484 Sepsis ISO RGD:1306368 D RGD:9068941 20200609 RGD mRNA:increased expression:intestine mucosa (rat) PMID:24059417|REF_RGD_ID:8547531 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:9004484 Sepsis susceptibility ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:missense mutations, frameshift mutation:cds:p.R702W, p.G908R, 3020_3021insC (human) PMID:21460759|REF_RGD_ID:5508752 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:9004527 YAO SYNDROME ISO RGD:1314945 D RGD:7240710 20210127 OMIM 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:9004527 YAO SYNDROME ISO RGD:1314945 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Susceptibility to Yao syndrome | ClinVar Annotator: match by term: Yao syndrome PMID:11385576|PMID:11385577|PMID:11425413|PMID:11875755|PMID:11910337|PMID:12019468|PMID:12512038|PMID:12557156|PMID:12577202|PMID:12626759|PMID:12650796|PMID:12673278|PMID:12704363|PMID:14765395|PMID:15002819|PMID:15024686|PMID:15190267|PMID:15198989|PMID:15571588|PMID:15770725|PMID:15967635|PMID:16010583|PMID:16416181|PMID:16485124|PMID:16669960|PMID:17301648|PMID:17489054|PMID:18240302|PMID:18489434|PMID:18541930|PMID:18942754|PMID:19103559|PMID:19184348|PMID:19184350|PMID:19185283|PMID:19349988|PMID:19397946|PMID:19467619|PMID:19641059|PMID:19713276|PMID:19748964|PMID:20047977|PMID:20332463|PMID:20713205|PMID:20959815|PMID:21274544|PMID:21335489|PMID:21460759|PMID:21548950|PMID:21565239|PMID:21745302|PMID:21830272|PMID:21914217|PMID:21951874|PMID:21983784|PMID:21994160|PMID:22275320|PMID:22344438|PMID:22440928|PMID:22543157|PMID:22684479|PMID:22939045|PMID:23102769|PMID:23128233|PMID:23173613|PMID:23615072|PMID:23633568|PMID:23709157|PMID:24033266|PMID:24047397|PMID:24345423|PMID:24586700|PMID:24597572|PMID:25365249|PMID:25741868|PMID:26042516|PMID:26070941|PMID:26167078|PMID:26500656|PMID:27306066|PMID:27373512|PMID:28008999|PMID:28422189|PMID:28492532|PMID:28658209|PMID:28750667|PMID:29178652|PMID:29248579|PMID:29321258|PMID:29446656|PMID:29795570|PMID:29867916|PMID:30166421|PMID:30167848|PMID:30552907|PMID:30553995|PMID:32597225|PMID:32716958 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:1306368 D RGD:9068941 20200609 RGD associated with Sepsis PMID:22575870|REF_RGD_ID:8547530 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:9004945 Ocular Toxoplasmosis susceptibility ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:snp:3' utr:g.*397A>C (rs3135499)(human) PMID:23100559|REF_RGD_ID:8547527 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:9005036 Bacteremia severity ISO RGD:1314945 D RGD:9068941 20200609 RGD associated with Staphylococcal Infections; PMID:24086711|REF_RGD_ID:13204726 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:9008 psoriatic arthritis ISO RGD:1314945 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Psoriatic arthritis, susceptibility to PMID:11385576|PMID:25741868|PMID:28492532 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:9008103 Seasonal Allergic Rhinitis susceptibility ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:polymorphisms:5'UTR/exon, exon:rs5743266, rs2066842 (human) PMID:16008671|REF_RGD_ID:5131477 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:9008870 Chromosome 16q12 Duplication Syndrome ISO RGD:1314945 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome PMID:25741868 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:9074 systemic lupus erythematosus ISO RGD:1314945 D RGD:9068941 20200609 RGD protein:increased expression:monocyte PMID:21886831|REF_RGD_ID:5508746 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.G908R (rs2066845)(human) PMID:16642031|REF_RGD_ID:13204710 8720095 Bpgm bisphosphoglycerate mutase gene DOID:0111630 familial erythrocytosis 8 ISO RGD:1605438 D RGD:7240710 20180130 OMIM 8720095 Bpgm bisphosphoglycerate mutase gene DOID:0111630 familial erythrocytosis 8 ISO RGD:1605438 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Diphosphoglycerate mutase deficiency of erythrocyte | ClinVar Annotator: match by term: Hemolytic anemia due to diphosphoglycerate mutase deficiency PMID:1421379|PMID:15054810|PMID:152321|PMID:25015942|PMID:2542247|PMID:25741868|PMID:28492532 8720095 Bpgm bisphosphoglycerate mutase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1605438 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8720110 Rdh5 retinol dehydrogenase 5 gene DOID:0050534 congenital stationary night blindness ISO RGD:1318857 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness PMID:10369264|PMID:10617778|PMID:11053295|PMID:11078852|PMID:11675386|PMID:15007239|PMID:15302662|PMID:15790919|PMID:17476461|PMID:18949499|PMID:20829743|PMID:21529959|PMID:25741868|PMID:28492532|PMID:31456290|PMID:31963381|PMID:31964843|PMID:32141364|PMID:32531858|PMID:34327195|PMID:34426522|PMID:34493867|PMID:36460718|PMID:36909829 8720110 Rdh5 retinol dehydrogenase 5 gene DOID:10584 retinitis pigmentosa ISO RGD:1318857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532|PMID:30718709 8720110 Rdh5 retinol dehydrogenase 5 gene DOID:11105 fundus albipunctatus ISO RGD:1318857 D RGD:7240710 20180130 OMIM 8720110 Rdh5 retinol dehydrogenase 5 gene DOID:11105 fundus albipunctatus ISO RGD:1318857 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Fundus albipunctatus | ClinVar Annotator: match by term: Fundus albipunctatus, autosomal recessive | ClinVar Annotator: match by term: Pigmentary retinal dystrophy | ClinVar Annotator: match by term: Retinitis punctata albescens PMID:10369264|PMID:10617778|PMID:11053295|PMID:11053296|PMID:11078852|PMID:11153648|PMID:11448328|PMID:11470705|PMID:11675386|PMID:11812441|PMID:12860821|PMID:12906118|PMID:14991316|PMID:15007239|PMID:15302662|PMID:15790919|PMID:17476461|PMID:18949499|PMID:20829743|PMID:21529959|PMID:22669287|PMID:22736946|PMID:22815624|PMID:2336278|PMID:23462753|PMID:24033266|PMID:24603341|PMID:25170858|PMID:25587058|PMID:25741868|PMID:25820994|PMID:27627638|PMID:28393863|PMID:28418496|PMID:28492532|PMID:29847639|PMID:302784|PMID:30718709|PMID:31456290|PMID:31963381|PMID:31964843|PMID:32141364|PMID:32232344|PMID:32531858|PMID:33610152|PMID:34327195|PMID:34426522|PMID:34493867|PMID:36460718|PMID:36909829 8720110 Rdh5 retinol dehydrogenase 5 gene DOID:11830 myopia ISO RGD:1318857 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23396134 8720110 Rdh5 retinol dehydrogenase 5 gene DOID:5723 optic atrophy ISO RGD:1318857 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:25741868|PMID:28492532|PMID:30718709 8720110 Rdh5 retinol dehydrogenase 5 gene DOID:630 genetic disease ISO RGD:1318857 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8720110 Rdh5 retinol dehydrogenase 5 gene DOID:8499 night blindness ISO RGD:1318857 D RGD:9068941 20200609 RGD fundus albipunctatus (congenital night-blindness disorder), OMIM:601617 Gly238Trp, Arg280His, Ala294Pro PMID:10617778|REF_RGD_ID:1599416 8720110 Rdh5 retinol dehydrogenase 5 gene DOID:8501 fundus dystrophy ISO RGD:1318857 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10369264|PMID:10617778|PMID:11053295|PMID:11675386|PMID:17476461|PMID:18949499|PMID:20829743|PMID:21529959|PMID:22815624|PMID:23462753|PMID:24265693|PMID:24603341|PMID:25741868|PMID:28393863|PMID:28418496|PMID:28492532|PMID:29847639|PMID:29892959|PMID:30718709|PMID:31456290|PMID:31963381|PMID:31964843|PMID:32141364|PMID:32232344|PMID:32531858|PMID:34327195|PMID:34426522|PMID:34493867|PMID:36460718|PMID:36909829 8720110 Rdh5 retinol dehydrogenase 5 gene DOID:9005835 Congenital Abnormalities ISO RGD:1318857 D RGD:9068941 20200609 RGD fundus albipunctatus (congenital night-blindness disorder), OMIM:601617 Gly238Trp, Arg280His, Ala294Pro PMID:10617778|REF_RGD_ID:1599416 8720125 Sh2d4a SH2 domain containing 4A gene DOID:0080600 COVID-19 ISO RGD:1317502 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8720125 Sh2d4a SH2 domain containing 4A gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:1317502 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:28492532 8720163 Traf1 TNF receptor associated factor 1 gene DOID:13832 patent ductus arteriosus ISO RGD:1351243 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19336370 8720163 Traf1 TNF receptor associated factor 1 gene DOID:2377 multiple sclerosis ISO RGD:1351243 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31068361 8720163 Traf1 TNF receptor associated factor 1 gene DOID:7148 rheumatoid arthritis ISO RGD:1351243 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18794853|PMID:23143596 8720163 Traf1 TNF receptor associated factor 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1351243 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8720163 Traf1 TNF receptor associated factor 1 gene DOID:9003281 Spontaneous Abortions ISO RGD:1351243 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 8720197 Psme3ip1 proteasome activator subunit 3 interacting protein 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1605044 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8720197 Psme3ip1 proteasome activator subunit 3 interacting protein 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1605044 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8720197 Psme3ip1 proteasome activator subunit 3 interacting protein 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1605044 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8720197 Psme3ip1 proteasome activator subunit 3 interacting protein 1 gene DOID:9008870 Chromosome 16q12 Duplication Syndrome ISO RGD:1605044 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome PMID:25741868 8720232 Ngfr nerve growth factor receptor gene DOID:0050328 congenital hypothyroidism treatment ISO RGD:3177 D RGD:9068941 20200609 RGD PMID:23312094|REF_RGD_ID:10414076 8720232 Ngfr nerve growth factor receptor gene DOID:0050741 alcohol dependence ISO RGD:3177 D RGD:9068941 20240229 RGD protein:altered expression:brain,neuron PMID:7609866|REF_RGD_ID:401976553 8720232 Ngfr nerve growth factor receptor gene DOID:0050850 diabetic encephalopathy treatment ISO RGD:3177 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:23528019|REF_RGD_ID:7242845 8720232 Ngfr nerve growth factor receptor gene DOID:0080855 Parkinsonism treatment ISO RGD:3177 D RGD:9068941 20240203 RGD PMID:20581854|REF_RGD_ID:401965387 8720232 Ngfr nerve growth factor receptor gene DOID:0111565 trichodontoosseous syndrome ISO RGD:730911 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Tricho-dento-osseous syndrome PMID:25741868 8720232 Ngfr nerve growth factor receptor gene DOID:10487 Hirschsprung's disease ISO RGD:730911 D RGD:9068941 20200609 RGD protein:decreased expression:lamina propria:lack of staining is a marker for HD PMID:7807351|REF_RGD_ID:5508387 8720232 Ngfr nerve growth factor receptor gene DOID:10652 Alzheimer's disease ISO RGD:10983 D RGD:9068941 20200609 RGD protein:altered localization:brain PMID:19334058|REF_RGD_ID:5508225 8720232 Ngfr nerve growth factor receptor gene DOID:10652 Alzheimer's disease ISO RGD:730911 D RGD:9068941 20200609 RGD PMID:2557638|REF_RGD_ID:10414073 8720232 Ngfr nerve growth factor receptor gene DOID:10652 Alzheimer's disease ISO RGD:730911 D RGD:9068941 20200609 RGD DNA:SNP:CDS:rs2072446 PMID:18780967|REF_RGD_ID:5508228 8720232 Ngfr nerve growth factor receptor gene DOID:10652 Alzheimer's disease ISO RGD:730911 D RGD:9068941 20200609 RGD protein:altered expression:urine PMID:8215963|REF_RGD_ID:10413893 8720232 Ngfr nerve growth factor receptor gene DOID:10652 Alzheimer's disease ISO RGD:730911 D RGD:9068941 20200609 RGD protein:decreased expression:basal nucleus of telencephalon, neuron PMID:10683291|REF_RGD_ID:10413892 8720232 Ngfr nerve growth factor receptor gene DOID:10652 Alzheimer's disease no_association ISO RGD:730911 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes: :multiple PMID:22236693|REF_RGD_ID:10413891 8720232 Ngfr nerve growth factor receptor gene DOID:10652 Alzheimer's disease treatment ISO RGD:10983 D RGD:9068941 20200609 RGD PMID:23545424|REF_RGD_ID:10413895 8720232 Ngfr nerve growth factor receptor gene DOID:10652 Alzheimer's disease treatment ISO RGD:3177 D RGD:9068941 20200609 RGD PMID:19070649|REF_RGD_ID:10413894 8720232 Ngfr nerve growth factor receptor gene DOID:10762 portal hypertension ISO RGD:3177 D RGD:9068941 20200609 RGD protein:increased expression:superior mesenteric ganglion PMID:22292477|REF_RGD_ID:10414081 8720232 Ngfr nerve growth factor receptor gene DOID:10763 hypertension ISO RGD:3177 D RGD:9068941 20200609 RGD DNA,protein:missense mutation:CDS:c.28G>A, p.A10T (rat strains: SHR/Izm, SHRSP/Izm, WKHT) PMID:8762194|REF_RGD_ID:5508800 8720232 Ngfr nerve growth factor receptor gene DOID:11446 sciatic neuropathy ISO RGD:10983 D RGD:9068941 20200609 RGD PMID:17576803|REF_RGD_ID:5144067 8720232 Ngfr nerve growth factor receptor gene DOID:11446 sciatic neuropathy ISO RGD:3177 D RGD:9068941 20200609 RGD PMID:23138653|REF_RGD_ID:10414078 8720232 Ngfr nerve growth factor receptor gene DOID:11612 polycystic ovary syndrome ISO RGD:3177 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:ovary PMID:15795180|REF_RGD_ID:5508374 8720232 Ngfr nerve growth factor receptor gene DOID:12217 Lewy body dementia ISO RGD:730911 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:8347330|REF_RGD_ID:10413896 8720232 Ngfr nerve growth factor receptor gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:3177 D RGD:9068941 20200609 RGD PMID:19824047|REF_RGD_ID:4891065 8720232 Ngfr nerve growth factor receptor gene DOID:12858 Huntington's disease ISO RGD:730911 D RGD:9068941 20200609 RGD mRNA:increased expression:caudate nucleus PMID:18093249|REF_RGD_ID:10058981 8720232 Ngfr nerve growth factor receptor gene DOID:1289 neurodegenerative disease ISO RGD:730911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12097334 8720232 Ngfr nerve growth factor receptor gene DOID:1307 dementia ISO RGD:3177 D RGD:9068941 20200609 RGD associated with Autoimmune Diseases;protein:decreased expression:medial septal nucleus PMID:8232919|REF_RGD_ID:10413897 8720232 Ngfr nerve growth factor receptor gene DOID:14330 Parkinson's disease ISO RGD:730911 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:8347330|REF_RGD_ID:10413896 8720232 Ngfr nerve growth factor receptor gene DOID:1555 urticaria ISO RGD:730911 D RGD:9068941 20200609 RGD protein:decreased expression:skin PMID:12653731|REF_RGD_ID:5508479 8720232 Ngfr nerve growth factor receptor gene DOID:1596 depressive disorder ISO RGD:730911 D RGD:9068941 20200609 RGD DNA:SNP:CDS:p.S205L, minor (L) allele appears protective PMID:15274039|REF_RGD_ID:5508376 8720232 Ngfr nerve growth factor receptor gene DOID:1679 cystitis ISO RGD:3177 D RGD:9068941 20200609 RGD protein, mRNA:increased expression:lumbosacral dorsal root ganglia PMID:18189308|REF_RGD_ID:5508447 8720232 Ngfr nerve growth factor receptor gene DOID:1686 glaucoma ISO RGD:3177 D RGD:9068941 20200609 RGD PMID:20943663|REF_RGD_ID:5508695 8720232 Ngfr nerve growth factor receptor gene DOID:1793 pancreatic cancer severity ISO RGD:730911 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor:associated with longer overall survival PMID:16704535|REF_RGD_ID:5508229 8720232 Ngfr nerve growth factor receptor gene DOID:1909 melanoma ISO RGD:730911 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:30339727 8720232 Ngfr nerve growth factor receptor gene DOID:1936 atherosclerosis ISO RGD:730911 D RGD:9068941 20200609 RGD protein:increased expression:adventitia, vasa vasorum PMID:11689207|REF_RGD_ID:5508382 8720232 Ngfr nerve growth factor receptor gene DOID:224 transient cerebral ischemia ISO RGD:3177 D RGD:9068941 20200609 RGD PMID:11124986|REF_RGD_ID:9743974 8720232 Ngfr nerve growth factor receptor gene DOID:2377 multiple sclerosis ISO RGD:730911 D RGD:9068941 20200609 RGD protein:increased expression:reactive astrocytes, microglia/macrophages PMID:11829348|REF_RGD_ID:5508481 8720232 Ngfr nerve growth factor receptor gene DOID:2841 asthma ISO RGD:10983 D RGD:9068941 20200609 RGD PMID:12540484|PMID:16603479|REF_RGD_ID:5144070|REF_RGD_ID:5144072 8720232 Ngfr nerve growth factor receptor gene DOID:3310 atopic dermatitis ISO RGD:730911 D RGD:9068941 20200609 RGD protein:increased expression:nerve fibers of the papillary dermis PMID:16586073|REF_RGD_ID:5508452 8720232 Ngfr nerve growth factor receptor gene DOID:3393 coronary artery disease ISO RGD:730911 D RGD:9068941 20200609 RGD PMID:11935372|REF_RGD_ID:1580935 8720232 Ngfr nerve growth factor receptor gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:3177 D RGD:9068941 20200609 RGD PMID:22678884|REF_RGD_ID:10413900 8720232 Ngfr nerve growth factor receptor gene DOID:3770 pulmonary fibrosis ISO RGD:10983 D RGD:9068941 20200609 RGD PMID:17576803|REF_RGD_ID:5144067 8720232 Ngfr nerve growth factor receptor gene DOID:4483 rhinitis ISO RGD:730911 D RGD:9068941 20200609 RGD protein:increased expression:blood, eosinophil PMID:18647313|REF_RGD_ID:5144116 8720232 Ngfr nerve growth factor receptor gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:730911 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 PMID:38922859 8720232 Ngfr nerve growth factor receptor gene DOID:6000 congestive heart failure ISO RGD:3177 D RGD:9068941 20200609 RGD associated with Myocardial Infarction ;mRNA:increased expression:heart left ventricle, septum (rat) PMID:16497176|REF_RGD_ID:1642301 8720232 Ngfr nerve growth factor receptor gene DOID:90 degenerative disc disease ISO RGD:3177 D RGD:9068941 20200609 RGD PMID:20973063|REF_RGD_ID:5144150 8720232 Ngfr nerve growth factor receptor gene DOID:9000039 Spinal Cord Injuries ISO RGD:3177 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord PMID:11223160|REF_RGD_ID:5144100 8720232 Ngfr nerve growth factor receptor gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:3177 D RGD:9068941 20200609 RGD PMID:23748892|REF_RGD_ID:10414079 8720232 Ngfr nerve growth factor receptor gene DOID:9000310 Lung Injury ISO RGD:10983 D RGD:9068941 20200609 RGD PMID:17673270|REF_RGD_ID:5144065 8720232 Ngfr nerve growth factor receptor gene DOID:9000641 Pain ISO RGD:3177 D RGD:9068941 20200609 RGD associated with Inflammation PMID:20060234|REF_RGD_ID:5144063 8720232 Ngfr nerve growth factor receptor gene DOID:9000998 Brain Injuries treatment ISO RGD:3177 D RGD:9068941 20200609 RGD PMID:23940017|REF_RGD_ID:10414074 8720232 Ngfr nerve growth factor receptor gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:3177 D RGD:9068941 20200609 RGD PMID:22302815|REF_RGD_ID:10413905 8720232 Ngfr nerve growth factor receptor gene DOID:9001240 Peripheral Nerve Injuries treatment ISO RGD:3177 D RGD:9068941 20200609 RGD PMID:22669154|REF_RGD_ID:10413899 8720232 Ngfr nerve growth factor receptor gene DOID:9002211 Hyperalgesia treatment ISO RGD:3177 D RGD:9068941 20200609 RGD associated with Brachial Plexus Neuropathies PMID:23324933|REF_RGD_ID:10413898 8720232 Ngfr nerve growth factor receptor gene DOID:9002304 Prostatic Neoplasms ISO RGD:730911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:17409433|PMID:18056468 8720232 Ngfr nerve growth factor receptor gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:3177 D RGD:9068941 20200609 RGD mRNA:increased expression:central nervous system PMID:8866783|REF_RGD_ID:5508386 8720232 Ngfr nerve growth factor receptor gene DOID:9002763 Experimental Autoimmune Encephalomyelitis severity ISO RGD:10983 D RGD:9068941 20200609 RGD PMID:16519950|REF_RGD_ID:5508312 8720232 Ngfr nerve growth factor receptor gene DOID:9002955 Nerve Degeneration ISO RGD:730911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10436046 8720232 Ngfr nerve growth factor receptor gene DOID:9004354 Alcohol-Related Disorders ISO RGD:3177 D RGD:9068941 20240229 RGD protein:altered expression:brain PMID:15188277|REF_RGD_ID:401976555 8720232 Ngfr nerve growth factor receptor gene DOID:9004354 Alcohol-Related Disorders ISO RGD:3177 D RGD:9068941 20240229 RGD protein:decreased expression:brain PMID:15188276|REF_RGD_ID:401976554 8720232 Ngfr nerve growth factor receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3177 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:21136036|REF_RGD_ID:5144144 8720232 Ngfr nerve growth factor receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3177 D RGD:9068941 20240309 RGD protein:decreased expression:telencephalon PMID:26282349|REF_RGD_ID:402463971 8720232 Ngfr nerve growth factor receptor gene DOID:9005908 Retrograde Degeneration ISO RGD:3177 D RGD:9068941 20240309 RGD protein:decreased expression:forebrain PMID:29609077|REF_RGD_ID:402463965 8720232 Ngfr nerve growth factor receptor gene DOID:9006190 Chronic Pancreatitis ISO RGD:730911 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:12741461|REF_RGD_ID:5508378 8720232 Ngfr nerve growth factor receptor gene DOID:9006302 Binge Drinking ISO RGD:3177 D RGD:9068941 20250201 RGD mRNA:decreased expression:basal forebrain cholinergic neurons PMID:37402853|REF_RGD_ID:597538603 8720232 Ngfr nerve growth factor receptor gene DOID:9007090 Experimental Seizures treatment ISO RGD:3177 D RGD:9068941 20241214 RGD PMID:12873743|REF_RGD_ID:9743975 8720232 Ngfr nerve growth factor receptor gene DOID:9007500 Prurigo ISO RGD:730911 D RGD:9068941 20200609 RGD protein:increased expression:skin Schwann cells, skin perineurium cells PMID:10025723|REF_RGD_ID:5508384 8720232 Ngfr nerve growth factor receptor gene DOID:9008091 Optic Nerve Injuries ISO RGD:3177 D RGD:9068941 20200609 RGD PMID:20943663|REF_RGD_ID:5508695 8720232 Ngfr nerve growth factor receptor gene DOID:9743 diabetic neuropathy ISO RGD:3177 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:dorsal root ganglia (GK/KyoSwe) PMID:12469361|REF_RGD_ID:5508379 8720242 Hgd homogentisate 1,2-dioxygenase gene DOID:630 genetic disease ISO RGD:1318713 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8720242 Hgd homogentisate 1,2-dioxygenase gene DOID:9000709 Hereditary Ochronosis ISO RGD:1318713 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Ochronosis, hereditary PMID:10205262|PMID:10482952|PMID:12501223|PMID:16199547|PMID:19862842|PMID:20301627|PMID:23430897|PMID:25681086|PMID:25741868|PMID:28492532|PMID:34008892 8720242 Hgd homogentisate 1,2-dioxygenase gene DOID:9006239 Alkaptonuric Ochronosis ISO RGD:1318713 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Alkaptonuric ochronosis PMID:10205262|PMID:10482952|PMID:12501223|PMID:16199547|PMID:19862842|PMID:20301627|PMID:23430897|PMID:25681086|PMID:25741868|PMID:28492532|PMID:34008892 8720242 Hgd homogentisate 1,2-dioxygenase gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1318713 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 8720242 Hgd homogentisate 1,2-dioxygenase gene DOID:9270 alkaptonuria ISO RGD:1318713 D RGD:7240710 20180130 OMIM 8720242 Hgd homogentisate 1,2-dioxygenase gene DOID:9270 alkaptonuria ISO RGD:1318713 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Alcaptonuria | ClinVar Annotator: match by term: Alkaptonuria | ClinVar Annotator: match by term: HGD-related condition | ClinVar Annotator: match by term: Homogentisic acidura PMID:1001939|PMID:10205262|PMID:10340975|PMID:10482952|PMID:10594001|PMID:10819641|PMID:10970188|PMID:11001939|PMID:11017803|PMID:12051967|PMID:12114497|PMID:12501223|PMID:12872815|PMID:12872836|PMID:1360590|PMID:14978662|PMID:16085442|PMID:16199547|PMID:17576681|PMID:18945288|PMID:19096913|PMID:19306858|PMID:19862842|PMID:20301627|PMID:20462779|PMID:2114497|PMID:21437689|PMID:21720873|PMID:21822197|PMID:23092576|PMID:23353776|PMID:23430897|PMID:23519186|PMID:24233259|PMID:24575791|PMID:25153563|PMID:25233259|PMID:25525159|PMID:25681086|PMID:25741868|PMID:25804398|PMID:26960557|PMID:27026014|PMID:28492532|PMID:30737480|PMID:31927521|PMID:32212000|PMID:33621656|PMID:33746036|PMID:34008892|PMID:34504318|PMID:34686677|PMID:35550814|PMID:36253209|PMID:37658095|PMID:8782815|PMID:9154114|PMID:9529363|PMID:9536098|PMID:9630082|PMID:9674916 8720270 Mier2 MIER family member 2 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1316379 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 8720270 Mier2 MIER family member 2 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1316379 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 8720300 Fam43a family with sequence similarity 43 member A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1343774 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8720314 Gtf3c4 general transcription factor IIIC subunit 4 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1349733 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8720314 Gtf3c4 general transcription factor IIIC subunit 4 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1349733 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8720314 Gtf3c4 general transcription factor IIIC subunit 4 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1349733 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:25741868|PMID:28492532 8720314 Gtf3c4 general transcription factor IIIC subunit 4 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1349733 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 8720314 Gtf3c4 general transcription factor IIIC subunit 4 gene DOID:0081097 Rafiq syndrome ISO RGD:1349733 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 8720314 Gtf3c4 general transcription factor IIIC subunit 4 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1349733 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8720314 Gtf3c4 general transcription factor IIIC subunit 4 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1349733 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 8720314 Gtf3c4 general transcription factor IIIC subunit 4 gene DOID:3652 Leigh disease ISO RGD:1349733 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 8720329 Grik1 glutamate ionotropic receptor kainate type subunit 1 gene DOID:1824 status epilepticus ISO RGD:2732 D RGD:9068941 20200609 RGD PMID:12724156|REF_RGD_ID:1642496 8720329 Grik1 glutamate ionotropic receptor kainate type subunit 1 gene DOID:1825 childhood absence epilepsy ISO RGD:731546 D RGD:9068941 20200609 RGD PMID:9259378|REF_RGD_ID:1358334 8720329 Grik1 glutamate ionotropic receptor kainate type subunit 1 gene DOID:5419 schizophrenia no_association ISO RGD:731546 D RGD:9068941 20200609 RGD DNA:SNPs:three known and three novel:Japanese population PMID:11702055|REF_RGD_ID:1642476 8720387 Fgf7 fibroblast growth factor 7 gene DOID:10283 prostate cancer ISO RGD:69203 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate gland stroma, hormone insensitive tumors PMID:9285567|REF_RGD_ID:2289086 8720387 Fgf7 fibroblast growth factor 7 gene DOID:11132 prostatic hypertrophy ISO RGD:62097 D RGD:9068941 20200609 RGD PMID:9000125|REF_RGD_ID:2301094 8720387 Fgf7 fibroblast growth factor 7 gene DOID:11132 prostatic hypertrophy ISO RGD:69203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14999240 8720387 Fgf7 fibroblast growth factor 7 gene DOID:11132 prostatic hypertrophy ISO RGD:69203 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate PMID:11482780|REF_RGD_ID:2289085 8720387 Fgf7 fibroblast growth factor 7 gene DOID:11132 prostatic hypertrophy no_association ISO RGD:69203 D RGD:9068941 20200609 RGD mRNA:decreased expression:prostate gland PMID:9285567|REF_RGD_ID:2289086 8720387 Fgf7 fibroblast growth factor 7 gene DOID:127 leiomyoma ISO RGD:69203 D RGD:9068941 20200609 RGD PMID:18566572|REF_RGD_ID:2301090 8720387 Fgf7 fibroblast growth factor 7 gene DOID:1749 squamous cell carcinoma ISO RGD:69203 D RGD:9068941 20200609 RGD cervical squamous cell carcinoma; mRNA:increased expression:cervical squamous cells PMID:17306351|REF_RGD_ID:2289084 8720387 Fgf7 fibroblast growth factor 7 gene DOID:2394 ovarian cancer ISO RGD:69203 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:11000522|REF_RGD_ID:2289080 8720387 Fgf7 fibroblast growth factor 7 gene DOID:2717 Bloom syndrome ISO RGD:69203 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8720387 Fgf7 fibroblast growth factor 7 gene DOID:2871 endometrial carcinoma ISO RGD:69203 D RGD:9068941 20200609 RGD mRNA:decreased expression:endometrium PMID:9070494|REF_RGD_ID:2301091 8720387 Fgf7 fibroblast growth factor 7 gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:69203 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (human) PMID:19635508|REF_RGD_ID:5490168 8720387 Fgf7 fibroblast growth factor 7 gene DOID:3744 cervical squamous cell carcinoma ISO RGD:69203 D RGD:9068941 20200609 RGD cervical squamous cell carcinoma; mRNA:increased expression:cervical squamous cells PMID:17306351|REF_RGD_ID:2289084 8720387 Fgf7 fibroblast growth factor 7 gene DOID:3770 pulmonary fibrosis ISO RGD:69203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15677771 8720387 Fgf7 fibroblast growth factor 7 gene DOID:5082 liver cirrhosis ISO RGD:69203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17692400 8720387 Fgf7 fibroblast growth factor 7 gene DOID:674 cleft palate ISO RGD:69203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17963255 8720387 Fgf7 fibroblast growth factor 7 gene DOID:8577 ulcerative colitis ISO RGD:69203 D RGD:9068941 20210604 RGD mRNA:increased expression:colon, lamina propria, myofibroblasts (human) PMID:9358773|REF_RGD_ID:126928145 8720387 Fgf7 fibroblast growth factor 7 gene DOID:8778 Crohn's disease ISO RGD:69203 D RGD:9068941 20210604 RGD mRNA:increased expression:colon, ileum, myofibroblasts (human) PMID:9358773|REF_RGD_ID:126928145 8720387 Fgf7 fibroblast growth factor 7 gene DOID:9000099 Experimental Colitis treatment ISO RGD:69203 D RGD:9068941 20210528 RGD human protein in mouse model PMID:10219846|REF_RGD_ID:126928136 8720387 Fgf7 fibroblast growth factor 7 gene DOID:9000310 Lung Injury ISO RGD:69203 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18385170 8720387 Fgf7 fibroblast growth factor 7 gene DOID:9002221 Hyperplasia ISO RGD:62097 D RGD:9068941 20210604 RGD mRNA:increased expression:distal colon (mouse) PMID:10338516|REF_RGD_ID:126928149 8720387 Fgf7 fibroblast growth factor 7 gene DOID:9003281 Spontaneous Abortions ISO RGD:69203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 8720387 Fgf7 fibroblast growth factor 7 gene DOID:9003491 Enterobacteriaceae Infections ISO RGD:62097 D RGD:9068941 20210604 RGD mRNA:increased expression:distal colon (mouse) PMID:10338516|REF_RGD_ID:126928149 8720387 Fgf7 fibroblast growth factor 7 gene DOID:9004009 Reperfusion Injury ISO RGD:69203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16526316 8720387 Fgf7 fibroblast growth factor 7 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:62097 D RGD:9068941 20200609 RGD PMID:9000125|REF_RGD_ID:2301094 8720387 Fgf7 fibroblast growth factor 7 gene DOID:9006010 Gingival Hyperplasia ISO RGD:69203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11023675 8720387 Fgf7 fibroblast growth factor 7 gene DOID:9007417 Pseudomonas Infections treatment ISO RGD:69203 D RGD:9068941 20210528 RGD human protein in rat model PMID:11076810|REF_RGD_ID:126928130 8720387 Fgf7 fibroblast growth factor 7 gene DOID:9256 colorectal cancer ISO RGD:69203 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8720387 Fgf7 fibroblast growth factor 7 gene DOID:9296 cleft lip ISO RGD:69203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17963255 8720402 Stk25 serine/threonine kinase 25 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1342524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8720402 Stk25 serine/threonine kinase 25 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1342524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8720402 Stk25 serine/threonine kinase 25 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1342524 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 8720402 Stk25 serine/threonine kinase 25 gene DOID:1059 intellectual disability ISO RGD:1342524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8720402 Stk25 serine/threonine kinase 25 gene DOID:9001550 Bethlem Myopathy 1A ISO RGD:1342524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1A PMID:26004199|PMID:28492532 8720450 Bhmt betaine--homocysteine S-methyltransferase gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1346951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17119116 8720450 Bhmt betaine--homocysteine S-methyltransferase gene DOID:0070508 metabolic dysfunction and alcohol associated liver disease ISO RGD:621496 D RGD:9068941 20241121 RGD protein:increased expression:serum,liver PMID:23083309|REF_RGD_ID:408425974 8720450 Bhmt betaine--homocysteine S-methyltransferase gene DOID:0080074 neural tube defect ISO RGD:1346951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17035141 8720450 Bhmt betaine--homocysteine S-methyltransferase gene DOID:3526 cerebral infarction susceptibility ISO RGD:1346951 D RGD:9068941 20230831 RGD DNA:SNPs,haplotypes:multiple PMID:20458436|REF_RGD_ID:401794454 8720450 Bhmt betaine--homocysteine S-methyltransferase gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1346951 D RGD:9068941 20220616 RGD associated with tumor vascularization; mRNA,protein:decreased expression:liver tumor (human) PMID:30901224|REF_RGD_ID:152995286 8720450 Bhmt betaine--homocysteine S-methyltransferase gene DOID:893 Wilson disease ISO RGD:1346951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23519153 8720450 Bhmt betaine--homocysteine S-methyltransferase gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:621496 D RGD:9068941 20241121 RGD protein:increased expression:cytosol PMID:25684186|REF_RGD_ID:408418736 8720450 Bhmt betaine--homocysteine S-methyltransferase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346951 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8720450 Bhmt betaine--homocysteine S-methyltransferase gene DOID:9352 type 2 diabetes mellitus ISO RGD:1346951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23665415 8720450 Bhmt betaine--homocysteine S-methyltransferase gene DOID:9477 pulmonary embolism susceptibility ISO RGD:1346951 D RGD:9068941 20230615 RGD DNA:SNP:exon 6: p.R239Q G>A (rs3733890) (human) PMID:37203835|REF_RGD_ID:329853743 8720450 Bhmt betaine--homocysteine S-methyltransferase gene DOID:9667 placental abruption ISO RGD:1346951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17376725 8720467 Il17rd interleukin 17 receptor D gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:1353408 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral arteriovenous malformation PMID:25636053|PMID:25741868|PMID:28492532|PMID:32389901 8720467 Il17rd interleukin 17 receptor D gene DOID:0060857 septooptic dysplasia ISO RGD:1353408 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Septo-optic dysplasia sequence PMID:28492532|PMID:32796691 8720467 Il17rd interleukin 17 receptor D gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1353408 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 8720467 Il17rd interleukin 17 receptor D gene DOID:0090076 hypogonadotropic hypogonadism 18 with or without anosmia ISO RGD:1353408 D RGD:7240710 20180130 OMIM 8720467 Il17rd interleukin 17 receptor D gene DOID:0090076 hypogonadotropic hypogonadism 18 with or without anosmia ISO RGD:1353408 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 18 with anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 18 with or without anosmia | ClinVar Annotator: match by term: IL17RD-related condition PMID:23643382|PMID:25636053|PMID:25741868|PMID:28492532|PMID:36259570 8720467 Il17rd interleukin 17 receptor D gene DOID:1924 hypogonadism ISO RGD:1353408 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypogonadism PMID:25741868 8720467 Il17rd interleukin 17 receptor D gene DOID:9000998 Brain Injuries ISO RGD:1353408 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 8720467 Il17rd interleukin 17 receptor D gene DOID:9001239 Delayed Puberty ISO RGD:1353408 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Delayed puberty PMID:23643382|PMID:25636053|PMID:25741868|PMID:28492532|PMID:32389901 8720467 Il17rd interleukin 17 receptor D gene DOID:9002304 Prostatic Neoplasms ISO RGD:1353408 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16474841 8720467 Il17rd interleukin 17 receptor D gene DOID:9004857 Pyruvate Dehydrogenase E1-Beta Deficiency ISO RGD:1353408 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency PMID:28492532 8720484 Spdl1 spindle apparatus coiled-coil protein 1 gene DOID:0111951 immunodeficiency 40 ISO RGD:1606284 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DOCK2 deficiency PMID:26083206|PMID:28492532 8720484 Spdl1 spindle apparatus coiled-coil protein 1 gene DOID:9008539 Perinatal Death ISO RGD:1606284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neonatal death PMID:25558065 8720519 Gip gastric inhibitory polypeptide gene DOID:0111565 trichodontoosseous syndrome ISO RGD:1353884 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Tricho-dento-osseous syndrome PMID:25741868 8720519 Gip gastric inhibitory polypeptide gene DOID:11465 autonomic nervous system disease ISO RGD:1353884 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:plasma (human) PMID:18376350|REF_RGD_ID:2312592 8720519 Gip gastric inhibitory polypeptide gene DOID:11612 polycystic ovary syndrome ISO RGD:1353884 D RGD:9068941 20200609 RGD associated with Obesity; protein:increased expression:plasma (human) PMID:19375579|REF_RGD_ID:2312588 8720519 Gip gastric inhibitory polypeptide gene DOID:1459 hypothyroidism ISO RGD:2709 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:9030821|REF_RGD_ID:2312549 8720519 Gip gastric inhibitory polypeptide gene DOID:2018 hyperinsulinism ISO RGD:2709 D RGD:9068941 20200609 RGD protein:decreased expression:plasma (rat) PMID:8059006|REF_RGD_ID:2312550 8720519 Gip gastric inhibitory polypeptide gene DOID:26 pancreas disease ISO RGD:2709 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:3892654|REF_RGD_ID:2312553 8720519 Gip gastric inhibitory polypeptide gene DOID:4195 hyperglycemia ISO RGD:1353884 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:plasma (human) PMID:19174495|REF_RGD_ID:2312590 8720519 Gip gastric inhibitory polypeptide gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1353884 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 PMID:38922859 8720519 Gip gastric inhibitory polypeptide gene DOID:9001109 Anorexia ISO RGD:1353884 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28633506|PMID:28666375|PMID:29689362 8720519 Gip gastric inhibitory polypeptide gene DOID:9005587 Starvation ISO RGD:2709 D RGD:9068941 20200609 RGD protein:increased expression:duodenum, jejunum (rat) PMID:6140913|REF_RGD_ID:2312554 8720519 Gip gastric inhibitory polypeptide gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2709 D RGD:9068941 20200609 RGD mRNA:increased expression:retina (rat) PMID:12789546|REF_RGD_ID:2312548 8720519 Gip gastric inhibitory polypeptide gene DOID:9352 type 2 diabetes mellitus ISO RGD:1353884 D RGD:9068941 20200609 RGD PMID:19473824|REF_RGD_ID:2312587 8720519 Gip gastric inhibitory polypeptide gene DOID:9352 type 2 diabetes mellitus ISO RGD:1353884 D RGD:9068941 20200609 RGD disease in rat treated with human protein PMID:19126188|REF_RGD_ID:2312591 8720519 Gip gastric inhibitory polypeptide gene DOID:9352 type 2 diabetes mellitus ISO RGD:1552008 D RGD:9068941 20200609 RGD PMID:18937625|REF_RGD_ID:2312589 8720519 Gip gastric inhibitory polypeptide gene DOID:9352 type 2 diabetes mellitus ISO RGD:2709 D RGD:9068941 20200609 RGD PMID:19056762|REF_RGD_ID:2312529 8720519 Gip gastric inhibitory polypeptide gene DOID:9970 obesity ISO RGD:1353884 D RGD:9068941 20200609 RGD PMID:3546047|REF_RGD_ID:2312551 8720519 Gip gastric inhibitory polypeptide gene DOID:9970 obesity ISO RGD:1353884 D RGD:9068941 20200609 RGD associated with Polycystic Ovary Syndrome; protein:increased expression:plasma (human) PMID:19375579|REF_RGD_ID:2312588 8720519 Gip gastric inhibitory polypeptide gene DOID:9970 obesity ISO RGD:2709 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:18063845|REF_RGD_ID:2312547 8720526 Nfkb2 nuclear factor kappa B subunit 2 gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:1316230 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 8720526 Nfkb2 nuclear factor kappa B subunit 2 gene DOID:0080855 Parkinsonism ISO RGD:1307189 D RGD:9068941 20200609 RGD PMID:18534259|REF_RGD_ID:2302392 8720526 Nfkb2 nuclear factor kappa B subunit 2 gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1316230 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:24140114|PMID:28492532 8720526 Nfkb2 nuclear factor kappa B subunit 2 gene DOID:0081152 common variable immunodeficiency 10 ISO RGD:1316230 D RGD:7240710 20190327 OMIM 8720526 Nfkb2 nuclear factor kappa B subunit 2 gene DOID:0081152 common variable immunodeficiency 10 ISO RGD:1316230 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: DEFICIT IN ANTERIOR PITUITARY FUNCTION AND VARIABLE IMMUNODEFICIENCY | ClinVar Annotator: match by term: Immunodeficiency, common variable, 10 PMID:16199547|PMID:16303288|PMID:17576681|PMID:22013103|PMID:24033266|PMID:24140114|PMID:24702956|PMID:24888602|PMID:25237204|PMID:25524009|PMID:25605273|PMID:25741868|PMID:28492532|PMID:28778864|PMID:29225085|PMID:29921932|PMID:30697212|PMID:30941118|PMID:31417880|PMID:32506361|PMID:32888943|PMID:34619682|PMID:34975878|PMID:35753512|PMID:36703223|PMID:9536098 8720526 Nfkb2 nuclear factor kappa B subunit 2 gene DOID:12155 lymphocytic choriomeningitis disease_progression ISO RGD:1316231 D RGD:9068941 20201218 RGD PMID:20565293|REF_RGD_ID:40902858 8720526 Nfkb2 nuclear factor kappa B subunit 2 gene DOID:12177 common variable immunodeficiency ISO RGD:1316230 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:24140114|PMID:24702956|PMID:25524009|PMID:25605273|PMID:25741868|PMID:28492532|PMID:28778864|PMID:29225085|PMID:30941118 8720526 Nfkb2 nuclear factor kappa B subunit 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1316230 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 PMID:25741868|PMID:28492532 8720526 Nfkb2 nuclear factor kappa B subunit 2 gene DOID:612 primary immunodeficiency disease ISO RGD:1316230 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:24140114|PMID:24702956|PMID:25524009|PMID:25605273|PMID:25741868|PMID:28492532|PMID:28778864|PMID:29225085|PMID:30941118|PMID:30953794 8720526 Nfkb2 nuclear factor kappa B subunit 2 gene DOID:630 genetic disease ISO RGD:1316230 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8720526 Nfkb2 nuclear factor kappa B subunit 2 gene DOID:649 prion disease ISO RGD:1316231 D RGD:9068941 20201218 RGD PMID:17573907|REF_RGD_ID:40902830 8720526 Nfkb2 nuclear factor kappa B subunit 2 gene DOID:8929 atrophic gastritis ISO RGD:1316231 D RGD:9068941 20201218 RGD associated with Helicobacter Infections PMID:23975431|REF_RGD_ID:40902973 8720526 Nfkb2 nuclear factor kappa B subunit 2 gene DOID:9001455 Intestinal Helminthiasis treatment ISO RGD:1316231 D RGD:9068941 20201225 RGD PMID:12370384|REF_RGD_ID:40902988 8720526 Nfkb2 nuclear factor kappa B subunit 2 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1307189 D RGD:9068941 20200609 RGD protein:increased activity:striatum PMID:17250675|REF_RGD_ID:2302394 8720526 Nfkb2 nuclear factor kappa B subunit 2 gene DOID:9004649 Heat Stroke ISO RGD:1316230 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24039931 8720526 Nfkb2 nuclear factor kappa B subunit 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1307189 D RGD:9068941 20200609 RGD PMID:18633731|REF_RGD_ID:2298775 8720560 Exosc2 exosome component 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1315266 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8720560 Exosc2 exosome component 2 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1315266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 8720560 Exosc2 exosome component 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1315266 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8720560 Exosc2 exosome component 2 gene DOID:0081175 short stature, hearing loss, retinitis pigmentosa, and distinctive facies ISO RGD:1315266 D RGD:7240710 20190315 OMIM 8720560 Exosc2 exosome component 2 gene DOID:0081175 short stature, hearing loss, retinitis pigmentosa, and distinctive facies ISO RGD:1315266 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: EXOSC2-related condition | ClinVar Annotator: match by term: SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES | ClinVar Annotator: match by term: Short stature, hearing loss, retinitis pigmentosa, and distinctive facies PMID:14647208|PMID:15060126|PMID:16199547|PMID:24447024|PMID:25741868|PMID:26843489|PMID:28492532|PMID:31628467|PMID:34162742 8720560 Exosc2 exosome component 2 gene DOID:0110297 autosomal recessive limb-girdle muscular dystrophy type 2K ISO RGD:1315266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K PMID:28492532 8720560 Exosc2 exosome component 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1315266 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8720560 Exosc2 exosome component 2 gene DOID:8501 fundus dystrophy ISO RGD:1315266 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532 8720560 Exosc2 exosome component 2 gene DOID:9007188 Liver Neoplasms ISO RGD:1315266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 8720560 Exosc2 exosome component 2 gene DOID:9273 citrullinemia ISO RGD:1315266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Citrullinemia PMID:28492532 8720573 Alg12 ALG12 alpha-1,6-mannosyltransferase gene DOID:0060041 autism spectrum disorder ISO RGD:1312492 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 8720573 Alg12 ALG12 alpha-1,6-mannosyltransferase gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1312492 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 8720573 Alg12 ALG12 alpha-1,6-mannosyltransferase gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1312492 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 8720573 Alg12 ALG12 alpha-1,6-mannosyltransferase gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1312492 D RGD:7240710 20180130 OMIM 8720573 Alg12 ALG12 alpha-1,6-mannosyltransferase gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1312492 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation | ClinVar Annotator: match by term: CDG Ig | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Ig PMID:11983712|PMID:12093361|PMID:12217961|PMID:12736397|PMID:15639192|PMID:16199547|PMID:16435218|PMID:17506107|PMID:17576681|PMID:21029365|PMID:21315133|PMID:25019053|PMID:25326635|PMID:25741868|PMID:28492532|PMID:30266093|PMID:31481313|PMID:33461977|PMID:35279850|PMID:38959600|PMID:9536098 8720573 Alg12 ALG12 alpha-1,6-mannosyltransferase gene DOID:10581 metachromatic leukodystrophy ISO RGD:1312492 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 8720573 Alg12 ALG12 alpha-1,6-mannosyltransferase gene DOID:1059 intellectual disability ISO RGD:1312492 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8720573 Alg12 ALG12 alpha-1,6-mannosyltransferase gene DOID:5212 congenital disorder of glycosylation ISO RGD:1312492 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation 8720573 Alg12 ALG12 alpha-1,6-mannosyltransferase gene DOID:630 genetic disease ISO RGD:1312492 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15639192|PMID:25019053|PMID:25741868|PMID:28492532|PMID:31481313 8720573 Alg12 ALG12 alpha-1,6-mannosyltransferase gene DOID:9007661 Dwarfism ISO RGD:1312492 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 8720593 Ppp1r18 protein phosphatase 1 regulatory subunit 18 gene DOID:11372 megacolon ISO RGD:1319936 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8720593 Ppp1r18 protein phosphatase 1 regulatory subunit 18 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1319936 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8720602 Dmbx1 diencephalon/mesencephalon homeobox 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1317940 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25558065 8720614 Prdm13 PR/SET domain 13 gene DOID:0070439 North Carolina macular dystrophy ISO RGD:1322406 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Macular dystrophy retinal 1 North Carolina type | ClinVar Annotator: match by term: North Carolina macular dystrophy PMID:10617775|PMID:25741868|PMID:26507665|PMID:27551809|PMID:28492532|PMID:28790370|PMID:31043363|PMID:31814698|PMID:32476814|PMID:33785507|PMID:34125159|PMID:34895015|PMID:9238090|PMID:9801042|PMID:9924305 8720614 Prdm13 PR/SET domain 13 gene DOID:630 genetic disease ISO RGD:1322406 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28166811|PMID:28492532 8720614 Prdm13 PR/SET domain 13 gene DOID:8501 fundus dystrophy ISO RGD:1322406 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:26507665|PMID:27551809|PMID:28492532|PMID:28790370|PMID:31043363|PMID:31814698|PMID:33785507|PMID:34125159|PMID:34895015|PMID:9238090|PMID:9924305 8720614 Prdm13 PR/SET domain 13 gene DOID:9002530 pontocerebellar hypoplasia type 17 ISO RGD:1322406 D RGD:7240710 20220629 OMIM 8720614 Prdm13 PR/SET domain 13 gene DOID:9002530 pontocerebellar hypoplasia type 17 ISO RGD:1322406 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: PONTOCEREBELLAR HYPOPLASIA, TYPE 17 PMID:35390279 8720614 Prdm13 PR/SET domain 13 gene DOID:9003751 CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM ISO RGD:1322406 D RGD:7240710 20220316 OMIM 8720614 Prdm13 PR/SET domain 13 gene DOID:9003751 CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM ISO RGD:1322406 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism | ClinVar Annotator: match by term: PRDM13-related condition PMID:25741868|PMID:28492532|PMID:34730112 8720634 Avpr2 arginine vasopressin receptor 2 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:730975 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17546640|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24098143|PMID:24365856|PMID:24962355|PMID:25817843|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8720634 Avpr2 arginine vasopressin receptor 2 gene DOID:0050476 Barth syndrome ISO RGD:730975 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11379875|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:18177777|PMID:18627054|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:35384376|PMID:9384614 8720634 Avpr2 arginine vasopressin receptor 2 gene DOID:0050700 cardiomyopathy ISO RGD:730975 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12145768 8720634 Avpr2 arginine vasopressin receptor 2 gene DOID:0050735 X-linked monogenic disease ISO RGD:730975 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19703807 8720634 Avpr2 arginine vasopressin receptor 2 gene DOID:0050800 cerebral creatine deficiency syndrome 1 ISO RGD:730975 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11379875|PMID:11748843|PMID:11968085|PMID:15351775|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17088400|PMID:17172942|PMID:18047645|PMID:18177777|PMID:18627054|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:22578097|PMID:22659343|PMID:23220634|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:26930212|PMID:28492532|PMID:29334594|PMID:35384376|PMID:9384614 8720634 Avpr2 arginine vasopressin receptor 2 gene DOID:0050811 congenital adrenal hyperplasia ISO RGD:730975 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17218722 8720634 Avpr2 arginine vasopressin receptor 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:730975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845|PMID:31690835 8720634 Avpr2 arginine vasopressin receptor 2 gene DOID:0081060 X-linked nephrogenic diabetes insipidus ISO RGD:730975 D RGD:7240710 20210630 OMIM 8720634 Avpr2 arginine vasopressin receptor 2 gene DOID:0081060 X-linked nephrogenic diabetes insipidus ISO RGD:730975 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: AVPR2-related condition | ClinVar Annotator: match by term: Diabetes insipidus, nephrogenic, X-linked PMID:10026829|PMID:10526945|PMID:10644689|PMID:10770218|PMID:10820167|PMID:10820168|PMID:11095010|PMID:11128419|PMID:11134505|PMID:11232028|PMID:11754100|PMID:11916004|PMID:11920339|PMID:12414899|PMID:12955588|PMID:1303257|PMID:1303271|PMID:1356229|PMID:14709855|PMID:15166253|PMID:15522100|PMID:15841479|PMID:15872203|PMID:16319185|PMID:16580609|PMID:16825342|PMID:16843086|PMID:16845277|PMID:17216256|PMID:17491025|PMID:18726898|PMID:19179480|PMID:19587238|PMID:19812297|PMID:20403097|PMID:22144672|PMID:22644838|PMID:23762448|PMID:24033266|PMID:25324589|PMID:25741868|PMID:26467025|PMID:27355191|PMID:27601473|PMID:27884173|PMID:28492532|PMID:29398133|PMID:29546600|PMID:29594432|PMID:30073107|PMID:30976394|PMID:32073219|PMID:32903920|PMID:32939031|PMID:33009446|PMID:33532864|PMID:33996673|PMID:34101133|PMID:4886456|PMID:5309332|PMID:7714087|PMID:7833930|PMID:7913579|PMID:7920187|PMID:7984150|PMID:7987330|PMID:7989330|PMID:8037205|PMID:8078903|PMID:8104196|PMID:8267567|PMID:8401502|PMID:8479490|PMID:8479491|PMID:8704106|PMID:8766931|PMID:8999963|PMID:9027323|PMID:9171234|PMID:9329382|PMID:9369448|PMID:9402087|PMID:9452109|PMID:9587067|PMID:9711877|PMID:9773787|PMID:9853256 8720634 Avpr2 arginine vasopressin receptor 2 gene DOID:0111823 autosomal hemophilia A ISO RGD:730975 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A PMID:31690835 8720634 Avpr2 arginine vasopressin receptor 2 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:730975 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:12180070|PMID:15351775|PMID:15689435|PMID:15841480|PMID:16080119|PMID:17088400|PMID:17172942|PMID:18047645|PMID:18562171|PMID:22578097|PMID:22659343|PMID:23220634|PMID:23810759|PMID:26930212|PMID:28492532 8720634 Avpr2 arginine vasopressin receptor 2 gene DOID:0112003 immunodeficiency 33 ISO RGD:730975 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 8720634 Avpr2 arginine vasopressin receptor 2 gene DOID:0112121 nephrogenic syndrome of inappropriate antidiuresis ISO RGD:730975 D RGD:7240710 20180130 OMIM 8720634 Avpr2 arginine vasopressin receptor 2 gene DOID:0112121 nephrogenic syndrome of inappropriate antidiuresis ISO RGD:730975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrogenic syndrome of inappropriate antidiuresis PMID:10820168|PMID:11095010|PMID:11134505|PMID:11232028|PMID:11754100|PMID:11916004|PMID:11920339|PMID:1303257|PMID:15166253|PMID:15872203|PMID:16319185|PMID:16580609|PMID:16825342|PMID:16843086|PMID:16845277|PMID:17229917|PMID:19179480|PMID:20159941|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27117808|PMID:27355191|PMID:28492532|PMID:29398133|PMID:29546600|PMID:33996673|PMID:7920187|PMID:7984150|PMID:8037205|PMID:8104196|PMID:8999963|PMID:9452109|PMID:9711877 8720634 Avpr2 arginine vasopressin receptor 2 gene DOID:10588 adrenoleukodystrophy ISO RGD:730975 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11379875|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:18177777|PMID:18627054|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:35384376|PMID:9384614 8720634 Avpr2 arginine vasopressin receptor 2 gene DOID:10763 hypertension severity ISO RGD:2186 D RGD:9068941 20200609 RGD PMID:12072411|REF_RGD_ID:1298694 8720634 Avpr2 arginine vasopressin receptor 2 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:730975 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11379875|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:18177777|PMID:18627054|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:35384376|PMID:9384614 8720634 Avpr2 arginine vasopressin receptor 2 gene DOID:12134 factor VIII deficiency ISO RGD:730975 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Factor 8 deficiency, congenital PMID:31690835 8720634 Avpr2 arginine vasopressin receptor 2 gene DOID:12387 nephrogenic diabetes insipidus ISO RGD:730975 D RGD:8554872 20240326 ClinVar ClinVar Annotator: match by term: Nephrogenic diabetes insipidus PMID:10026829|PMID:10714359|PMID:10749568|PMID:10770218|PMID:10820168|PMID:10918636|PMID:11095010|PMID:11128419|PMID:11134505|PMID:11232028|PMID:11754100|PMID:11916004|PMID:11920339|PMID:1303257|PMID:1303271|PMID:14709855|PMID:15166253|PMID:15522100|PMID:15841479|PMID:15872203|PMID:16319185|PMID:16502494|PMID:16580609|PMID:16689923|PMID:16825342|PMID:16843086|PMID:16845277|PMID:17216256|PMID:17491025|PMID:18407239|PMID:18726898|PMID:19179480|PMID:19729439|PMID:19812297|PMID:25741868|PMID:26467025|PMID:27355191|PMID:28492532|PMID:29398133|PMID:29546600|PMID:33996673|PMID:34101133|PMID:7541187|PMID:7833930|PMID:7913579|PMID:7920187|PMID:7933835|PMID:7984150|PMID:8037205|PMID:8104196|PMID:8401502|PMID:8704106|PMID:8766931|PMID:8815789|PMID:8999963|PMID:9402087|PMID:9452109|PMID:9711877|PMID:9773787 8720634 Avpr2 arginine vasopressin receptor 2 gene DOID:12849 autistic disorder ISO RGD:730975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8720634 Avpr2 arginine vasopressin receptor 2 gene DOID:13628 favism ISO RGD:730975 D RGD:8554872 20240716 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:10480214|PMID:11379875|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:18177777|PMID:18627054|PMID:19396829|PMID:19846429|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:28492532|PMID:35384376|PMID:9384614 8720634 Avpr2 arginine vasopressin receptor 2 gene DOID:2729 dyskeratosis congenita ISO RGD:730975 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:10480214|PMID:11379875|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:18177777|PMID:18627054|PMID:19396829|PMID:19846429|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:28492532|PMID:35384376|PMID:9384614 8720634 Avpr2 arginine vasopressin receptor 2 gene DOID:5199 ureteral obstruction ISO RGD:2186 D RGD:9068941 20200609 RGD PMID:18971210|REF_RGD_ID:2312654 8720634 Avpr2 arginine vasopressin receptor 2 gene DOID:6000 congestive heart failure ISO RGD:730975 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12145768 8720634 Avpr2 arginine vasopressin receptor 2 gene DOID:607 paraplegia ISO RGD:730975 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11379875|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:18177777|PMID:18627054|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23184456|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:35384376|PMID:9384614 8720634 Avpr2 arginine vasopressin receptor 2 gene DOID:630 genetic disease ISO RGD:730975 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10820167|PMID:10820168|PMID:1303257|PMID:18726898|PMID:19587238|PMID:22144672|PMID:25741868|PMID:25937802|PMID:26077742|PMID:28492532 8720634 Avpr2 arginine vasopressin receptor 2 gene DOID:9002720 Splenomegaly ISO RGD:730975 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 8720634 Avpr2 arginine vasopressin receptor 2 gene DOID:9005521 Chromosome Xq28 Duplication Syndrome ISO RGD:730975 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome 8720634 Avpr2 arginine vasopressin receptor 2 gene DOID:9006257 Growth Disorders ISO RGD:730975 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19703807 8720634 Avpr2 arginine vasopressin receptor 2 gene DOID:9008760 Oliguria ISO RGD:730975 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7977526 8720662 Yipf5 Yip1 domain family member 5 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1602093 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8720662 Yipf5 Yip1 domain family member 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602093 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8720662 Yipf5 Yip1 domain family member 5 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1602093 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8720662 Yipf5 Yip1 domain family member 5 gene DOID:9007409 Microcephaly, Epilepsy, and Diabetes Syndrome 2 ISO RGD:1602093 D RGD:7240710 20210505 OMIM 8720662 Yipf5 Yip1 domain family member 5 gene DOID:9007409 Microcephaly, Epilepsy, and Diabetes Syndrome 2 ISO RGD:1602093 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome 2 PMID:25741868|PMID:33164986 8720712 Uba52 ubiquitin A-52 residue ribosomal protein fusion product 1 gene DOID:1520 colon carcinoma ISO RGD:68482 D RGD:9068941 20200609 RGD mRNA:increased expression:colonic mucosa (human) PMID:8541345|REF_RGD_ID:11352739 8720712 Uba52 ubiquitin A-52 residue ribosomal protein fusion product 1 gene DOID:9000998 Brain Injuries ISO RGD:68344 D RGD:9068941 20200609 RGD mRNA:decreased expression:cerebral cortex, hippocampus (rat) PMID:17936732|REF_RGD_ID:11041870 8720712 Uba52 ubiquitin A-52 residue ribosomal protein fusion product 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:68482 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:urine (human) PMID:17634209|REF_RGD_ID:2311211 8720712 Uba52 ubiquitin A-52 residue ribosomal protein fusion product 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:68483 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney (mouse) PMID:12171997|REF_RGD_ID:11352735 8720712 Uba52 ubiquitin A-52 residue ribosomal protein fusion product 1 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:68482 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 8720735 Ccdc80 coiled-coil domain containing 80 gene DOID:0080600 COVID-19 ISO RGD:736330 D RGD:9068941 20200613 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8720735 Ccdc80 coiled-coil domain containing 80 gene DOID:3310 atopic dermatitis ISO RGD:736330 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23042114 8720735 Ccdc80 coiled-coil domain containing 80 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736330 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 8720757 Amacr alpha-methylacyl-CoA racemase gene DOID:0050632 oculocutaneous albinism ISO RGD:735888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oculocutaneous albinism PMID:25741868|PMID:28492532 8720757 Amacr alpha-methylacyl-CoA racemase gene DOID:0050952 spastic ataxia ISO RGD:735888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 8720757 Amacr alpha-methylacyl-CoA racemase gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:735888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:20818383|PMID:25741868|PMID:28492532 8720757 Amacr alpha-methylacyl-CoA racemase gene DOID:0060602 alpha-methylacyl-CoA racemase deficiency ISO RGD:735888 D RGD:7240710 20180130 OMIM 8720757 Amacr alpha-methylacyl-CoA racemase gene DOID:0060602 alpha-methylacyl-CoA racemase deficiency ISO RGD:735888 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency PMID:10655068|PMID:12438241|PMID:12512044|PMID:15249642|PMID:16199547|PMID:17576681|PMID:18032455|PMID:20558530|PMID:20818383|PMID:20821052|PMID:21576695|PMID:21686617|PMID:23286897|PMID:25133958|PMID:25741868|PMID:28492532|PMID:30369941|PMID:34440436|PMID:9536098 8720757 Amacr alpha-methylacyl-CoA racemase gene DOID:0111068 congenital bile acid synthesis defect 4 ISO RGD:735888 D RGD:7240710 20180130 OMIM 8720757 Amacr alpha-methylacyl-CoA racemase gene DOID:0111068 congenital bile acid synthesis defect 4 ISO RGD:735888 D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: AMACR-related condition | ClinVar Annotator: match by term: Congenital bile acid synthesis defect 4 PMID:10655068|PMID:12438241|PMID:12512044|PMID:15249642|PMID:18032455|PMID:20818383|PMID:20821052|PMID:21576695|PMID:21686617|PMID:25133958|PMID:25741868|PMID:28492532|PMID:30369941|PMID:9584266 8720757 Amacr alpha-methylacyl-CoA racemase gene DOID:11054 urinary bladder cancer severity ISO RGD:735888 D RGD:9068941 20200609 RGD PMID:18648853|REF_RGD_ID:2315629 8720757 Amacr alpha-methylacyl-CoA racemase gene DOID:2477 motor peripheral neuropathy ISO RGD:735888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10655068 8720757 Amacr alpha-methylacyl-CoA racemase gene DOID:3459 breast carcinoma severity ISO RGD:735888 D RGD:9068941 20200609 RGD PMID:15941950|REF_RGD_ID:2315635 8720757 Amacr alpha-methylacyl-CoA racemase gene DOID:409 liver disease ISO RGD:735888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12512044 8720757 Amacr alpha-methylacyl-CoA racemase gene DOID:4450 renal cell carcinoma ISO RGD:735888 D RGD:9068941 20200609 RGD PMID:14707866|REF_RGD_ID:2315633 8720757 Amacr alpha-methylacyl-CoA racemase gene DOID:630 genetic disease ISO RGD:735888 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10655068|PMID:12512044|PMID:15249642|PMID:18032455|PMID:20821052|PMID:21576695|PMID:21686617|PMID:25741868|PMID:28492532|PMID:30369941 8720757 Amacr alpha-methylacyl-CoA racemase gene DOID:657 adenoma ISO RGD:735888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17684125 8720757 Amacr alpha-methylacyl-CoA racemase gene DOID:8634 prostate carcinoma in situ disease_progression ISO RGD:735888 D RGD:9068941 20200609 RGD PMID:18343427|REF_RGD_ID:2315630 8720757 Amacr alpha-methylacyl-CoA racemase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980|PMID:25380136 8720757 Amacr alpha-methylacyl-CoA racemase gene DOID:9002304 Prostatic Neoplasms ISO RGD:735888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17173048|PMID:22919386|PMID:24763052 8720757 Amacr alpha-methylacyl-CoA racemase gene DOID:9002304 Prostatic Neoplasms ISO RGD:735888 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:prostate gland PMID:20003233|REF_RGD_ID:2315628 8720757 Amacr alpha-methylacyl-CoA racemase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8720757 Amacr alpha-methylacyl-CoA racemase gene DOID:9004643 Urologic Neoplasms disease_progression ISO RGD:735888 D RGD:9068941 20200609 RGD PMID:16315020|REF_RGD_ID:2315632 8720757 Amacr alpha-methylacyl-CoA racemase gene DOID:9008443 Colorectal Neoplasms ISO RGD:735888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17684125 8720790 Nckipsd NCK interacting protein with SH3 domain gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1322714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 8720790 Nckipsd NCK interacting protein with SH3 domain gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1322714 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 8720813 Pros1 protein S gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1342781 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:34142820 8720813 Pros1 protein S gene DOID:0060903 thrombosis ISO RGD:1342781 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10706858|PMID:11132655 8720813 Pros1 protein S gene DOID:0080390 nephrotic syndrome type 1 ISO RGD:1342781 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Congenital nephrotic syndrome 1 PMID:10790208|PMID:11127877|PMID:11858485|PMID:18322254|PMID:20880255|PMID:24014240|PMID:24055113|PMID:25637381|PMID:25741868|PMID:27535533|PMID:28492532|PMID:31064749 8720813 Pros1 protein S gene DOID:0111003 Joubert syndrome 8 ISO RGD:1342781 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 8 PMID:28492532 8720813 Pros1 protein S gene DOID:0111900 autosomal dominant thrombophilia due to protein S deficiency ISO RGD:1342781 D RGD:7240710 20180130 OMIM 8720813 Pros1 protein S gene DOID:0111900 autosomal dominant thrombophilia due to protein S deficiency ISO RGD:1342781 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: PROS1-related condition | ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency, autosomal dominant PMID:10063989|PMID:10447256|PMID:10456456|PMID:10613647|PMID:10669162|PMID:10706858|PMID:10790208|PMID:10811787|PMID:10887114|PMID:11127877|PMID:11858485|PMID:12351389|PMID:12960605|PMID:15147381|PMID:15175796|PMID:15238143|PMID:1547381|PMID:15712227|PMID:15978566|PMID:16100035|PMID:16199547|PMID:16461766|PMID:16953283|PMID:16961607|PMID:16961608|PMID:17157360|PMID:17576681|PMID:18322254|PMID:18435454|PMID:18841302|PMID:18954896|PMID:19826897|PMID:20811787|PMID:20880255|PMID:21172841|PMID:21285903|PMID:2143091|PMID:21486865|PMID:21764424|PMID:21764702|PMID:21811774|PMID:22166512|PMID:22261441|PMID:22273984|PMID:22627591|PMID:22951146|PMID:23813890|PMID:24014240|PMID:24033266|PMID:24055113|PMID:24119292|PMID:24162787|PMID:24233386|PMID:24365770|PMID:2526663|PMID:25272994|PMID:25525159|PMID:25637381|PMID:25741868|PMID:26046366|PMID:26251307|PMID:26466767|PMID:26985940|PMID:27535533|PMID:27652279|PMID:27660039|PMID:27667277|PMID:27748013|PMID:27838551|PMID:28174134|PMID:28374852|PMID:28492532|PMID:28607330|PMID:29225857|PMID:29321366|PMID:29748776|PMID:29883906|PMID:30349894|PMID:30543986|PMID:30669159|PMID:31019283|PMID:31064749|PMID:31068512|PMID:31335064|PMID:32964666|PMID:34355501|PMID:34426522|PMID:34533296|PMID:34729451|PMID:35815065|PMID:36034607|PMID:37647632|PMID:7545463|PMID:7579448|PMID:7579449|PMID:7803790|PMID:8113388|PMID:8298131|PMID:8639833|PMID:8765219|PMID:8781426|PMID:8865520|PMID:8943854|PMID:9241758|PMID:9536098|PMID:9651142|PMID:9657428 8720813 Pros1 protein S gene DOID:0111902 thrombophilia due to activated protein C resistance ISO RGD:1342781 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11703344 8720813 Pros1 protein S gene DOID:0111905 autosomal recessive thrombophilia due to protein S deficiency ISO RGD:1342781 D RGD:7240710 20180130 OMIM 8720813 Pros1 protein S gene DOID:0111905 autosomal recessive thrombophilia due to protein S deficiency ISO RGD:1342781 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency, autosomal recessive PMID:10063989|PMID:10447256|PMID:10456456|PMID:10613646|PMID:10613647|PMID:10669162|PMID:10706858|PMID:10790208|PMID:10811787|PMID:10887114|PMID:11127877|PMID:11776305|PMID:11858485|PMID:12351389|PMID:12960605|PMID:15147381|PMID:15175796|PMID:15238143|PMID:1547381|PMID:15712227|PMID:15712777|PMID:15978566|PMID:16100035|PMID:16199547|PMID:16363235|PMID:16461766|PMID:1671337|PMID:16953283|PMID:16961607|PMID:16961608|PMID:17157360|PMID:17576681|PMID:18242167|PMID:18322254|PMID:18435454|PMID:18841302|PMID:18954896|PMID:19826897|PMID:20181378|PMID:20421270|PMID:20484936|PMID:20811787|PMID:20880255|PMID:21172841|PMID:21285903|PMID:2143091|PMID:21486865|PMID:21764424|PMID:21764702|PMID:21811774|PMID:22166512|PMID:22261441|PMID:22273984|PMID:22290026|PMID:2231208|PMID:22627591|PMID:22627709|PMID:22951146|PMID:23813890|PMID:24014240|PMID:24033266|PMID:24055113|PMID:24119292|PMID:24162787|PMID:24233386|PMID:24365770|PMID:2521801|PMID:2526663|PMID:25272994|PMID:25525159|PMID:25637381|PMID:25640679|PMID:25741868|PMID:26046366|PMID:26251307|PMID:26466767|PMID:26985940|PMID:27535533|PMID:27652279|PMID:27660039|PMID:27667277|PMID:27748013|PMID:27838551|PMID:28088608|PMID:28174134|PMID:28374852|PMID:28492532|PMID:28607330|PMID:29225857|PMID:29321366|PMID:29748776|PMID:29883906|PMID:30349894|PMID:30543986|PMID:30669159|PMID:31019283|PMID:31064749|PMID:31068512|PMID:31335064|PMID:31422373|PMID:32964666|PMID:34355501|PMID:34426522|PMID:34533296|PMID:34729451|PMID:35815065|PMID:37647632|PMID:7545463|PMID:7579448|PMID:7579449|PMID:7803790|PMID:7974339|PMID:8298131|PMID:8616098|PMID:8639833|PMID:8765219|PMID:8781426|PMID:8841302|PMID:8865520|PMID:8943854|PMID:9031442|PMID:9031443|PMID:9241758|PMID:9536098|PMID:9651142 8720813 Pros1 protein S gene DOID:11394 adult respiratory distress syndrome ISO RGD:1342781 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 8720813 Pros1 protein S gene DOID:1247 blood coagulation disease ISO RGD:1550610 D RGD:9068941 20200609 RGD PMID:19729839|REF_RGD_ID:11250417 8720813 Pros1 protein S gene DOID:178 vascular disease ISO RGD:1550610 D RGD:9068941 20200609 RGD PMID:19729839|REF_RGD_ID:11250417 8720813 Pros1 protein S gene DOID:2213 hemorrhagic disease ISO RGD:1342781 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:20880255|PMID:25741868|PMID:28492532|PMID:31064749|PMID:37647632|PMID:8943854|PMID:9651142 8720813 Pros1 protein S gene DOID:2451 protein S deficiency ISO RGD:1342781 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Protein S deficiency disease PMID:10063989|PMID:10447256|PMID:10706858|PMID:10790208|PMID:11127877|PMID:11858485|PMID:12351389|PMID:15712227|PMID:17576681|PMID:17596203|PMID:18322254|PMID:20880255|PMID:22166512|PMID:22261441|PMID:22951146|PMID:23813890|PMID:24014240|PMID:24055113|PMID:25272994|PMID:25637381|PMID:25741868|PMID:26466767|PMID:27535533|PMID:27652279|PMID:28492532|PMID:29321366|PMID:29748776|PMID:30543986|PMID:30669159|PMID:30925296|PMID:31064749|PMID:31335064|PMID:32581362|PMID:32964666|PMID:34355501|PMID:34729451|PMID:35815065|PMID:37647632|PMID:7579449|PMID:7803790|PMID:8765219|PMID:8865520|PMID:8943854|PMID:9031443|PMID:9241758|PMID:9536098 8720813 Pros1 protein S gene DOID:2451 protein S deficiency no_association ISO RGD:1342781 D RGD:9068941 20200609 RGD DNA:SNPs: : c.1016T>A, c.1138A>C (human) PMID:22261441|REF_RGD_ID:11250419 8720813 Pros1 protein S gene DOID:3526 cerebral infarction ISO RGD:1342781 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.R355C (1063C>T) (human) PMID:21172841|REF_RGD_ID:11250416 8720813 Pros1 protein S gene DOID:3576 sagittal sinus thrombosis ISO RGD:1342781 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18382986 8720813 Pros1 protein S gene DOID:5723 optic atrophy ISO RGD:1342781 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:10669162|PMID:10887114|PMID:12960605|PMID:15147381|PMID:15175796|PMID:1547381|PMID:16100035|PMID:18435454|PMID:18841302|PMID:20880255|PMID:2143091|PMID:21764424|PMID:22273984|PMID:24014240|PMID:24033266|PMID:24119292|PMID:24365770|PMID:2526663|PMID:25741868|PMID:27838551|PMID:28374852|PMID:28492532|PMID:28607330|PMID:29883906|PMID:31019283|PMID:31064749|PMID:34355501|PMID:34533296|PMID:34729451|PMID:7579448|PMID:8765219 8720813 Pros1 protein S gene DOID:630 genetic disease ISO RGD:1342781 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10077735|PMID:20880255|PMID:25741868|PMID:28492532 8720813 Pros1 protein S gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1342781 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8720813 Pros1 protein S gene DOID:8501 fundus dystrophy ISO RGD:1342781 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10669162|PMID:10790208|PMID:10887114|PMID:11127877|PMID:11858485|PMID:12960605|PMID:15147381|PMID:15175796|PMID:1547381|PMID:15712227|PMID:16100035|PMID:18322254|PMID:18435454|PMID:18841302|PMID:20880255|PMID:2143091|PMID:21764424|PMID:22273984|PMID:22627591|PMID:24014240|PMID:24033266|PMID:24055113|PMID:24119292|PMID:24365770|PMID:2526663|PMID:25637381|PMID:25741868|PMID:27535533|PMID:27838551|PMID:28374852|PMID:28492532|PMID:28607330|PMID:29883906|PMID:31019283|PMID:31064749|PMID:34355501|PMID:34426522|PMID:34533296|PMID:34729451|PMID:7579448|PMID:7803790|PMID:8765219 8720813 Pros1 protein S gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:620971 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver, plasma PMID:16995903|REF_RGD_ID:2300011 8720813 Pros1 protein S gene DOID:9002165 Diabetic Nephropathies ISO RGD:1342781 D RGD:9068941 20200609 RGD protein:increased expression:kidney, glomerulus PMID:29511111|REF_RGD_ID:13515131 8720813 Pros1 protein S gene DOID:9002165 Diabetic Nephropathies ISO RGD:620971 D RGD:9068941 20200609 RGD associated with diabetes mellitus, experimental;mRNA, protein:increased expression:kidney, glomerulus PMID:29511111|REF_RGD_ID:13515131 8720813 Pros1 protein S gene DOID:9002165 Diabetic Nephropathies severity ISO RGD:1550610 D RGD:9068941 20200609 RGD associated with diabetes mellitus, experimental PMID:29511111|REF_RGD_ID:13515131 8720813 Pros1 protein S gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:1342781 D RGD:9068941 20200609 RGD associated with diabetes mellitus, experimental PMID:29511111|REF_RGD_ID:13515131 8720813 Pros1 protein S gene DOID:9003121 Thromboembolism ISO RGD:1342781 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Thromboembolism PMID:25741868|PMID:28492532|PMID:31064749 8720813 Pros1 protein S gene DOID:9003505 Venous Thromboembolism ISO RGD:1342781 D RGD:9068941 20200609 RGD PMID:11434940|PMID:26466767|REF_RGD_ID:11099984|REF_RGD_ID:11251678 8720813 Pros1 protein S gene DOID:9003871 Venous Thrombosis ISO RGD:1342781 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Deep vein thrombosis PMID:12351389|PMID:20880255|PMID:22261441|PMID:25741868|PMID:28492532|PMID:31064749|PMID:31335064|PMID:32964666|PMID:34729451|PMID:7803790 8720833 Armcx3 armadillo repeat containing X-linked 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1604814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8720833 Armcx3 armadillo repeat containing X-linked 3 gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1604814 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:28492532 8720833 Armcx3 armadillo repeat containing X-linked 3 gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:1604814 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 8720833 Armcx3 armadillo repeat containing X-linked 3 gene DOID:0111823 autosomal hemophilia A ISO RGD:1604814 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A PMID:31690835 8720833 Armcx3 armadillo repeat containing X-linked 3 gene DOID:12134 factor VIII deficiency ISO RGD:1604814 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Factor 8 deficiency, congenital PMID:31690835 8720833 Armcx3 armadillo repeat containing X-linked 3 gene DOID:12849 autistic disorder ISO RGD:1604814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8720848 Cdca3 cell division cycle associated 3 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1345166 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 8720848 Cdca3 cell division cycle associated 3 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1345166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 8720848 Cdca3 cell division cycle associated 3 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1345166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 8720848 Cdca3 cell division cycle associated 3 gene DOID:0080600 COVID-19 ISO RGD:1345166 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8720848 Cdca3 cell division cycle associated 3 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1345166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 8720848 Cdca3 cell division cycle associated 3 gene DOID:0110866 congenital stationary night blindness 1H ISO RGD:1345166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness 1H PMID:10477144|PMID:10523525|PMID:10770297|PMID:10770309|PMID:10770310|PMID:11322952|PMID:12668921|PMID:25741868|PMID:27063057|PMID:28492532|PMID:9425898 8720848 Cdca3 cell division cycle associated 3 gene DOID:0111621 Temtamy syndrome ISO RGD:1345166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 8720848 Cdca3 cell division cycle associated 3 gene DOID:10825 essential hypertension ISO RGD:1345166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertension, essential, susceptibility to PMID:10477144|PMID:10523525|PMID:10770297|PMID:10770309|PMID:10770310|PMID:11322952|PMID:12668921|PMID:25741868|PMID:28492532|PMID:9425898 8720848 Cdca3 cell division cycle associated 3 gene DOID:630 genetic disease ISO RGD:1345166 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8720848 Cdca3 cell division cycle associated 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1345166 D RGD:9068941 20240912 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8720848 Cdca3 cell division cycle associated 3 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1345166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8720862 Tnfrsf14 TNF receptor superfamily member 14 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1320832 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8720862 Tnfrsf14 TNF receptor superfamily member 14 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1320832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8720862 Tnfrsf14 TNF receptor superfamily member 14 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1320832 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:23892090|PMID:28492532|PMID:31602316 8720862 Tnfrsf14 TNF receptor superfamily member 14 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1320832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 8720862 Tnfrsf14 TNF receptor superfamily member 14 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1320832 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8720862 Tnfrsf14 TNF receptor superfamily member 14 gene DOID:0111934 immunodeficiency 38 ISO RGD:1320832 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8720862 Tnfrsf14 TNF receptor superfamily member 14 gene DOID:0111935 immunodeficiency 16 ISO RGD:1320832 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8720862 Tnfrsf14 TNF receptor superfamily member 14 gene DOID:10608 celiac disease ISO RGD:1320832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20190752 8720862 Tnfrsf14 TNF receptor superfamily member 14 gene DOID:2349 arteriosclerosis ISO RGD:1320832 D RGD:9068941 20200609 RGD protein:increased expression:carotid artery, atherosclerotic lesions (human) PMID:11742877|REF_RGD_ID:2317295 8720862 Tnfrsf14 TNF receptor superfamily member 14 gene DOID:5844 myocardial infarction ISO RGD:1310115 D RGD:9068941 20200609 RGD protein:increased expression:heart, cardiomyocyte, endothelial cell (rat) PMID:18353719|REF_RGD_ID:2317281 8720862 Tnfrsf14 TNF receptor superfamily member 14 gene DOID:7148 rheumatoid arthritis ISO RGD:1320832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20453842 8720862 Tnfrsf14 TNF receptor superfamily member 14 gene DOID:9000998 Brain Injuries ISO RGD:1320832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 8720862 Tnfrsf14 TNF receptor superfamily member 14 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8720862 Tnfrsf14 TNF receptor superfamily member 14 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1320832 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:23892090|PMID:28492532|PMID:31602316 8720862 Tnfrsf14 TNF receptor superfamily member 14 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1320832 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8720878 Pex1 peroxisomal biogenesis factor 1 gene DOID:0050444 infantile Refsum disease ISO RGD:1346322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: Infantile form of phytanic acid storage disease | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1B PMID:10384394|PMID:10447258|PMID:10480353|PMID:11389485|PMID:11439091|PMID:12032265|PMID:12402331|PMID:1301993|PMID:15098231|PMID:15542397|PMID:16086329|PMID:16088892|PMID:16141001|PMID:16199547|PMID:17055079|PMID:19105186|PMID:19877282|PMID:20301621|PMID:2063923|PMID:20952722|PMID:21031596|PMID:21846392|PMID:22871920|PMID:23247051|PMID:23757202|PMID:24033266|PMID:24503136|PMID:25133751|PMID:25412400|PMID:25525159|PMID:25741868|PMID:26219880|PMID:26287655|PMID:26387595|PMID:26467025|PMID:26643206|PMID:27090541|PMID:27124789|PMID:27231023|PMID:27353947|PMID:27469511|PMID:27848944|PMID:27872819|PMID:27882258|PMID:28446956|PMID:28468868|PMID:28492532|PMID:30362618|PMID:30561787|PMID:31374812|PMID:31831025|PMID:32056211|PMID:32214227|PMID:9398847|PMID:9398848|PMID:9539740 8720878 Pex1 peroxisomal biogenesis factor 1 gene DOID:0050444 infantile Refsum disease ISO RGD:1346322 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: INFANTILE PHYTANIC ACID STORAGE DISEASE | ClinVar Annotator: match by term: Infantile Refsum disease | ClinVar Annotator: match by term: Infantile form of phytanic acid storage disease | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NALD/IRD) PMID:10384394|PMID:10447258|PMID:10480353|PMID:11389485|PMID:11439091|PMID:12032265|PMID:12402331|PMID:1301993|PMID:15098231|PMID:15542397|PMID:16086329|PMID:16088892|PMID:16141001|PMID:16199547|PMID:17055079|PMID:17576681|PMID:19105186|PMID:19877282|PMID:20301621|PMID:2063923|PMID:20952722|PMID:21031596|PMID:21844578|PMID:21846392|PMID:21862673|PMID:22871920|PMID:2324705|PMID:23247051|PMID:23757202|PMID:24033266|PMID:24503136|PMID:25133751|PMID:25412400|PMID:25525159|PMID:25741868|PMID:26219880|PMID:26287655|PMID:26319495|PMID:26387595|PMID:26467025|PMID:26643206|PMID:27090541|PMID:27124789|PMID:27231023|PMID:27302843|PMID:27353947|PMID:27469511|PMID:27848944|PMID:27872819|PMID:27882258|PMID:28446956|PMID:28468868|PMID:28492532|PMID:29419819|PMID:30362618|PMID:30561787|PMID:30733538|PMID:31319225|PMID:31374812|PMID:31742715|PMID:31831025|PMID:32056211|PMID:32203225|PMID:32214227|PMID:32483926|PMID:32959227|PMID:33083013|PMID:33708531|PMID:33955040|PMID:33955814|PMID:34513757|PMID:34744965|PMID:36046390|PMID:37385119|PMID:9398847|PMID:9398848|PMID:9536098|PMID:9539740 8720878 Pex1 peroxisomal biogenesis factor 1 gene DOID:0050444 infantile Refsum disease ISO RGD:1346322 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: INFANTILE PHYTANIC ACID STORAGE DISEASE | ClinVar Annotator: match by term: Infantile Refsum disease | ClinVar Annotator: match by term: Infantile form of phytanic acid storage disease | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NALD/IRD) PMID:10384394|PMID:10447258|PMID:10480353|PMID:11389485|PMID:11439091|PMID:12032265|PMID:12402331|PMID:1301993|PMID:15098231|PMID:15542397|PMID:16086329|PMID:16088892|PMID:16141001|PMID:16199547|PMID:17055079|PMID:17576681|PMID:19105186|PMID:19877282|PMID:20301621|PMID:2063923|PMID:20952722|PMID:21031596|PMID:21844578|PMID:21846392|PMID:21862673|PMID:22871920|PMID:2324705|PMID:23247051|PMID:23757202|PMID:24033266|PMID:24503136|PMID:25133751|PMID:25412400|PMID:25525159|PMID:25741868|PMID:26219880|PMID:26287655|PMID:26319495|PMID:26387595|PMID:26467025|PMID:26643206|PMID:27090541|PMID:27124789|PMID:27231023|PMID:27302843|PMID:27353947|PMID:27469511|PMID:27848944|PMID:27872819|PMID:27882258|PMID:28446956|PMID:28468868|PMID:28492532|PMID:28559085|PMID:28600779|PMID:29377746|PMID:29419819|PMID:29588463|PMID:29907799|PMID:30362618|PMID:30561787|PMID:30577886|PMID:30733538|PMID:31150129|PMID:31216405|PMID:31319225|PMID:31374812|PMID:31589614|PMID:31664448|PMID:31742715|PMID:31831025|PMID:31884617|PMID:3196484|PMID:31964843|PMID:31980526|PMID:32056211|PMID:32203225|PMID:32214227|PMID:32483926|PMID:32866347|PMID:32959227|PMID:33083013|PMID:33240318|PMID:33708531|PMID:33749171|PMID:33955040|PMID:33955814|PMID:34426522|PMID:34513757|PMID:34744965|PMID:34758253|PMID:35322241|PMID:35586607|PMID:36046390|PMID:36631813|PMID:37385119|PMID:9398847|PMID:9398848|PMID:9536098|PMID:9539740 8720878 Pex1 peroxisomal biogenesis factor 1 gene DOID:0080377 peroxisomal biogenesis disorder ISO RGD:1346322 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9398847|PMID:9398848|PMID:9539740 8720878 Pex1 peroxisomal biogenesis factor 1 gene DOID:0080476 peroxisome biogenesis disorder 1A ISO RGD:1346322 D RGD:7240710 20190306 OMIM 8720878 Pex1 peroxisomal biogenesis factor 1 gene DOID:0080476 peroxisome biogenesis disorder 1A ISO RGD:1346322 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1a PMID:10384394|PMID:10447258|PMID:10480353|PMID:11389485|PMID:11439091|PMID:12032265|PMID:12402331|PMID:1301993|PMID:15098231|PMID:15542397|PMID:16086329|PMID:16088892|PMID:16141001|PMID:16199547|PMID:17055079|PMID:17576681|PMID:19105186|PMID:19877282|PMID:20301621|PMID:2063923|PMID:20952722|PMID:21031596|PMID:21844578|PMID:21846392|PMID:21862673|PMID:22871920|PMID:2324705|PMID:23247051|PMID:23757202|PMID:24033266|PMID:24503136|PMID:25133751|PMID:25182519|PMID:25326635|PMID:25412400|PMID:25525159|PMID:25741868|PMID:26219880|PMID:26287655|PMID:26319495|PMID:26387595|PMID:26467025|PMID:26594346|PMID:26643206|PMID:27090541|PMID:27124789|PMID:27231023|PMID:27302843|PMID:27353947|PMID:27469511|PMID:27848944|PMID:27872819|PMID:27882258|PMID:28432012|PMID:28446956|PMID:28454995|PMID:28468868|PMID:28492532|PMID:28559085|PMID:28600779|PMID:29261186|PMID:29377746|PMID:29419819|PMID:29588463|PMID:29907799|PMID:30362618|PMID:30561787|PMID:30577886|PMID:30733538|PMID:30755224|PMID:31150129|PMID:31216405|PMID:31319225|PMID:31374812|PMID:31589614|PMID:31664448|PMID:31742715|PMID:31831025|PMID:31884617|PMID:3196484|PMID:31964843|PMID:31980526|PMID:32056211|PMID:32203225|PMID:32214227|PMID:32483926|PMID:32596134|PMID:32866347|PMID:32959227|PMID:33083013|PMID:33240318|PMID:33708531|PMID:33749171|PMID:33955040|PMID:33955814|PMID:34426522|PMID:34513757|PMID:34744965|PMID:34758253|PMID:35322241|PMID:35586607|PMID:36046390|PMID:36631813|PMID:37385119|PMID:9398847|PMID:9398848|PMID:9536098|PMID:9539740 8720878 Pex1 peroxisomal biogenesis factor 1 gene DOID:0080623 Heimler syndrome 1 ISO RGD:1346322 D RGD:7240710 20180130 OMIM 8720878 Pex1 peroxisomal biogenesis factor 1 gene DOID:0080623 Heimler syndrome 1 ISO RGD:1346322 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Heimler syndrome 1 | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1C PMID:10384394|PMID:10447258|PMID:10480353|PMID:11389485|PMID:11439091|PMID:12032265|PMID:12402331|PMID:1301993|PMID:15098231|PMID:15542397|PMID:16086329|PMID:16088892|PMID:16141001|PMID:16199547|PMID:17055079|PMID:17576681|PMID:19105186|PMID:19877282|PMID:20301621|PMID:2063923|PMID:20952722|PMID:21031596|PMID:21844578|PMID:21846392|PMID:21862673|PMID:22871920|PMID:2324705|PMID:23247051|PMID:23757202|PMID:24033266|PMID:24503136|PMID:25133751|PMID:25182519|PMID:25326635|PMID:25412400|PMID:25525159|PMID:25741868|PMID:26219880|PMID:26287655|PMID:26319495|PMID:26387595|PMID:26467025|PMID:26594346|PMID:26643206|PMID:27090541|PMID:27124789|PMID:27231023|PMID:27302843|PMID:27353947|PMID:27469511|PMID:27848944|PMID:27872819|PMID:27882258|PMID:28432012|PMID:28446956|PMID:28454995|PMID:28468868|PMID:28492532|PMID:28559085|PMID:28600779|PMID:28857144|PMID:29261186|PMID:29377746|PMID:29419819|PMID:29588463|PMID:29907799|PMID:30362618|PMID:30561787|PMID:30577886|PMID:30733538|PMID:31150129|PMID:31216405|PMID:31319225|PMID:31374812|PMID:31589614|PMID:31628608|PMID:31664448|PMID:31742715|PMID:31831025|PMID:31884617|PMID:3196484|PMID:31964843|PMID:31980526|PMID:32203225|PMID:32483926|PMID:32866347|PMID:32959227|PMID:33083013|PMID:33240318|PMID:33708531|PMID:33749171|PMID:33955040|PMID:33955814|PMID:34426522|PMID:34448047|PMID:34513757|PMID:34744965|PMID:34758253|PMID:35322241|PMID:35586607|PMID:36046390|PMID:36631813|PMID:37385119|PMID:9398847|PMID:9398848|PMID:9536098|PMID:9539740 8720878 Pex1 peroxisomal biogenesis factor 1 gene DOID:0080918 polymicrogyria ISO RGD:1346322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Polymicrogyria PMID:25741868|PMID:28492532 8720878 Pex1 peroxisomal biogenesis factor 1 gene DOID:0081240 peroxisome biogenesis disorder 1B ISO RGD:1346322 D RGD:7240710 20221005 OMIM 8720878 Pex1 peroxisomal biogenesis factor 1 gene DOID:0081240 peroxisome biogenesis disorder 1B ISO RGD:1346322 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1B PMID:10384394|PMID:10447258|PMID:10480353|PMID:11389485|PMID:11439091|PMID:12032265|PMID:12402331|PMID:1301993|PMID:15098231|PMID:15542397|PMID:16086329|PMID:16088892|PMID:16141001|PMID:16199547|PMID:17055079|PMID:17576681|PMID:19105186|PMID:19877282|PMID:20301621|PMID:2063923|PMID:20952722|PMID:21031596|PMID:21844578|PMID:21846392|PMID:21862673|PMID:22871920|PMID:2324705|PMID:23247051|PMID:23757202|PMID:24033266|PMID:24503136|PMID:25133751|PMID:25412400|PMID:25525159|PMID:25741868|PMID:26219880|PMID:26287655|PMID:26319495|PMID:26387595|PMID:26467025|PMID:26643206|PMID:27090541|PMID:27124789|PMID:27302843|PMID:27353947|PMID:27848944|PMID:27872819|PMID:27882258|PMID:28446956|PMID:28468868|PMID:28492532|PMID:28559085|PMID:28600779|PMID:29377746|PMID:29419819|PMID:29588463|PMID:29907799|PMID:30362618|PMID:30561787|PMID:30577886|PMID:30733538|PMID:31150129|PMID:31216405|PMID:31319225|PMID:31374812|PMID:31589614|PMID:31664448|PMID:31742715|PMID:31831025|PMID:31884617|PMID:31964843|PMID:31980526|PMID:32056211|PMID:32203225|PMID:32214227|PMID:32483926|PMID:32866347|PMID:32959227|PMID:33083013|PMID:33240318|PMID:33708531|PMID:33749171|PMID:33955040|PMID:33955814|PMID:34426522|PMID:34513757|PMID:34744965|PMID:34758253|PMID:35322241|PMID:35586607|PMID:36046390|PMID:36631813|PMID:37385119|PMID:9398847|PMID:9398848|PMID:9536098|PMID:9539740 8720878 Pex1 peroxisomal biogenesis factor 1 gene DOID:10907 microcephaly ISO RGD:1346322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 8720878 Pex1 peroxisomal biogenesis factor 1 gene DOID:14791 Leber congenital amaurosis ISO RGD:1346322 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Congenital retinal blindness PMID:10384394|PMID:10447258|PMID:11389485|PMID:12402331|PMID:15098231|PMID:16141001|PMID:17055079|PMID:19105186|PMID:20301621|PMID:21031596|PMID:21846392|PMID:21862673|PMID:22871920|PMID:24503136|PMID:25412400|PMID:25741868|PMID:26219880|PMID:26287655|PMID:26467025|PMID:26643206|PMID:27090541|PMID:27872819|PMID:27882258|PMID:28492532|PMID:28559085|PMID:29377746|PMID:29588463|PMID:29907799|PMID:30362618|PMID:30577886|PMID:31150129|PMID:31216405|PMID:31319225|PMID:31374812|PMID:31589614|PMID:31664448|PMID:31884617|PMID:31964843|PMID:31980526|PMID:32866347|PMID:33749171|PMID:34426522|PMID:34758253|PMID:35586607|PMID:36631813|PMID:9398847|PMID:9398848 8720878 Pex1 peroxisomal biogenesis factor 1 gene DOID:1826 epilepsy ISO RGD:1346322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 8720878 Pex1 peroxisomal biogenesis factor 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1346322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8720878 Pex1 peroxisomal biogenesis factor 1 gene DOID:5723 optic atrophy ISO RGD:1346322 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:10447258|PMID:10480353|PMID:11389485|PMID:12032265|PMID:12402331|PMID:1301993|PMID:15098231|PMID:15542397|PMID:16141001|PMID:17055079|PMID:20301621|PMID:2063923|PMID:20952722|PMID:21031596|PMID:23757202|PMID:25741868|PMID:26287655|PMID:26387595|PMID:26467025|PMID:26643206|PMID:28468868|PMID:28492532|PMID:31831025|PMID:9398847 8720878 Pex1 peroxisomal biogenesis factor 1 gene DOID:630 genetic disease ISO RGD:1346322 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10384394|PMID:10447258|PMID:10480353|PMID:11389485|PMID:12032265|PMID:12402331|PMID:1301993|PMID:15098231|PMID:15542397|PMID:16086329|PMID:16088892|PMID:16141001|PMID:16199547|PMID:17055079|PMID:19105186|PMID:20301621|PMID:2063923|PMID:20952722|PMID:21031596|PMID:21846392|PMID:21862673|PMID:22871920|PMID:2324705|PMID:23247051|PMID:23757202|PMID:24503136|PMID:25182519|PMID:25412400|PMID:25741868|PMID:26219880|PMID:26287655|PMID:26387595|PMID:26467025|PMID:26643206|PMID:27090541|PMID:27302843|PMID:27872819|PMID:27882258|PMID:28397838|PMID:28454995|PMID:28468868|PMID:28492532|PMID:28559085|PMID:29377746|PMID:29588463|PMID:29907799|PMID:30362618|PMID:30577886|PMID:30733538|PMID:31150129|PMID:31216405|PMID:31319225|PMID:31374812|PMID:31589614|PMID:31664448|PMID:31831025|PMID:31884617|PMID:31964843|PMID:31980526|PMID:32203225|PMID:32866347|PMID:33708531|PMID:33749171|PMID:34426522|PMID:34513757|PMID:34758253|PMID:35586607|PMID:36046390|PMID:36631813|PMID:37385119|PMID:9398847|PMID:9398848 8720878 Pex1 peroxisomal biogenesis factor 1 gene DOID:8501 fundus dystrophy ISO RGD:1346322 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10384394|PMID:10447258|PMID:10480353|PMID:11389485|PMID:12032265|PMID:12402331|PMID:1301993|PMID:15098231|PMID:15542397|PMID:16086329|PMID:16141001|PMID:17055079|PMID:19105186|PMID:20301621|PMID:2063923|PMID:20952722|PMID:21031596|PMID:21846392|PMID:21862673|PMID:22871920|PMID:23757202|PMID:24503136|PMID:25412400|PMID:25741868|PMID:26219880|PMID:26287655|PMID:26387595|PMID:26467025|PMID:26643206|PMID:27090541|PMID:27872819|PMID:27882258|PMID:28468868|PMID:28492532|PMID:28559085|PMID:29377746|PMID:29588463|PMID:29907799|PMID:30362618|PMID:30577886|PMID:31150129|PMID:31216405|PMID:31319225|PMID:31374812|PMID:31589614|PMID:31664448|PMID:31831025|PMID:31884617|PMID:3196484|PMID:31964843|PMID:31980526|PMID:32866347|PMID:33749171|PMID:34426522|PMID:34758253|PMID:35586607|PMID:36631813|PMID:9398847|PMID:9398848 8720878 Pex1 peroxisomal biogenesis factor 1 gene DOID:9006420 Zellweger Leukodystrophy ISO RGD:1346322 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Zellweger leukodystrophy PMID:10384394|PMID:10447258|PMID:10480353|PMID:11389485|PMID:11439091|PMID:12032265|PMID:12402331|PMID:1301993|PMID:15098231|PMID:15542397|PMID:16086329|PMID:16088892|PMID:16141001|PMID:16199547|PMID:17055079|PMID:17576681|PMID:19105186|PMID:19877282|PMID:20301621|PMID:2063923|PMID:20952722|PMID:21031596|PMID:21844578|PMID:21846392|PMID:21862673|PMID:22871920|PMID:2324705|PMID:23247051|PMID:23757202|PMID:24033266|PMID:24503136|PMID:25133751|PMID:25182519|PMID:25326635|PMID:25412400|PMID:25525159|PMID:25741868|PMID:26219880|PMID:26287655|PMID:26319495|PMID:26387595|PMID:26467025|PMID:26594346|PMID:26643206|PMID:27090541|PMID:27124789|PMID:27231023|PMID:27302843|PMID:27353947|PMID:27469511|PMID:27848944|PMID:27872819|PMID:27882258|PMID:28432012|PMID:28446956|PMID:28454995|PMID:28468868|PMID:28492532|PMID:28559085|PMID:28600779|PMID:29261186|PMID:29377746|PMID:29419819|PMID:29588463|PMID:29907799|PMID:30362618|PMID:30561787|PMID:30577886|PMID:30733538|PMID:30755224|PMID:31150129|PMID:31216405|PMID:31319225|PMID:31374812|PMID:31589614|PMID:31664448|PMID:31742715|PMID:31831025|PMID:31884617|PMID:3196484|PMID:31964843|PMID:31980526|PMID:32056211|PMID:32203225|PMID:32214227|PMID:32483926|PMID:32596134|PMID:32866347|PMID:32959227|PMID:33083013|PMID:33240318|PMID:33708531|PMID:33749171|PMID:33955040|PMID:33955814|PMID:34426522|PMID:34513757|PMID:34744965|PMID:34758253|PMID:35322241|PMID:35586607|PMID:36046390|PMID:36631813|PMID:37385119|PMID:9398847|PMID:9398848|PMID:9536098|PMID:9539740 8720878 Pex1 peroxisomal biogenesis factor 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1346322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 8720878 Pex1 peroxisomal biogenesis factor 1 gene DOID:905 Zellweger syndrome ISO RGD:1346322 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Cerebrohepatorenal syndrome | ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome PMID:10384394|PMID:10447258|PMID:10480353|PMID:11389485|PMID:11439091|PMID:12032265|PMID:12402331|PMID:1301993|PMID:15098231|PMID:15542397|PMID:16086329|PMID:16088892|PMID:16141001|PMID:16199547|PMID:17055079|PMID:17576681|PMID:19105186|PMID:19877282|PMID:20301621|PMID:2063923|PMID:20952722|PMID:21031596|PMID:21844578|PMID:21846392|PMID:21862673|PMID:22871920|PMID:2324705|PMID:23247051|PMID:23757202|PMID:24033266|PMID:24503136|PMID:25133751|PMID:25326635|PMID:25412400|PMID:25525159|PMID:25741868|PMID:26219880|PMID:26287655|PMID:26319495|PMID:26387595|PMID:26467025|PMID:26594346|PMID:26643206|PMID:27090541|PMID:27124789|PMID:27231023|PMID:27302843|PMID:27353947|PMID:27469511|PMID:27848944|PMID:27872819|PMID:27882258|PMID:28432012|PMID:28446956|PMID:28454995|PMID:28468868|PMID:28492532|PMID:28857144|PMID:29261186|PMID:29419819|PMID:30362618|PMID:30561787|PMID:30733538|PMID:30755224|PMID:31319225|PMID:31374812|PMID:31628608|PMID:31742715|PMID:31831025|PMID:32056211|PMID:32203225|PMID:32214227|PMID:32483926|PMID:32596134|PMID:32866347|PMID:33083013|PMID:33240318|PMID:33708531|PMID:33726816|PMID:33955814|PMID:34513757|PMID:34744965|PMID:9398847|PMID:9398848|PMID:9536098|PMID:9539740 8720878 Pex1 peroxisomal biogenesis factor 1 gene DOID:905 Zellweger syndrome ISO RGD:1346322 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome PMID:10384394|PMID:10447258|PMID:10480353|PMID:11389485|PMID:11439091|PMID:12032265|PMID:12402331|PMID:1301993|PMID:15098231|PMID:15542397|PMID:16086329|PMID:16088892|PMID:16141001|PMID:16199547|PMID:17055079|PMID:17576681|PMID:19105186|PMID:19877282|PMID:20301621|PMID:2063923|PMID:20952722|PMID:21031596|PMID:21844578|PMID:21846392|PMID:21862673|PMID:22871920|PMID:2324705|PMID:23247051|PMID:23757202|PMID:24033266|PMID:24503136|PMID:25133751|PMID:25326635|PMID:25412400|PMID:25525159|PMID:25741868|PMID:25741916|PMID:26219880|PMID:26287655|PMID:26319495|PMID:26387595|PMID:26467025|PMID:26594346|PMID:26643206|PMID:27090541|PMID:27124789|PMID:27231023|PMID:27302843|PMID:27353947|PMID:27469511|PMID:27848944|PMID:27872819|PMID:27882258|PMID:28432012|PMID:28446956|PMID:28454995|PMID:28468868|PMID:28492532|PMID:28600779|PMID:28857144|PMID:29261186|PMID:29419819|PMID:30362618|PMID:30561787|PMID:30733538|PMID:30755224|PMID:31319225|PMID:31374812|PMID:31628608|PMID:31742715|PMID:31831025|PMID:31964843|PMID:32056211|PMID:32203225|PMID:32214227|PMID:32483926|PMID:32596134|PMID:32866347|PMID:32959227|PMID:33083013|PMID:33240318|PMID:33708531|PMID:33726816|PMID:33955040|PMID:33955814|PMID:34448047|PMID:34513757|PMID:34744965|PMID:34974531|PMID:9398847|PMID:9398848|PMID:9536098|PMID:9539740 8720878 Pex1 peroxisomal biogenesis factor 1 gene DOID:905 Zellweger syndrome ISO RGD:1346322 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome PMID:10384394|PMID:10447258|PMID:10480353|PMID:11389485|PMID:11439091|PMID:12032265|PMID:12402331|PMID:1301993|PMID:15098231|PMID:15542397|PMID:16086329|PMID:16088892|PMID:16141001|PMID:16199547|PMID:17055079|PMID:17576681|PMID:19105186|PMID:19877282|PMID:20301621|PMID:2063923|PMID:20952722|PMID:21031596|PMID:21844578|PMID:21846392|PMID:21862673|PMID:22871920|PMID:2324705|PMID:23247051|PMID:23757202|PMID:24033266|PMID:24503136|PMID:25133751|PMID:25182519|PMID:25326635|PMID:25412400|PMID:25525159|PMID:25741868|PMID:26219880|PMID:26287655|PMID:26319495|PMID:26387595|PMID:26467025|PMID:26594346|PMID:26643206|PMID:27090541|PMID:27124789|PMID:27231023|PMID:27302843|PMID:27353947|PMID:27469511|PMID:27848944|PMID:27872819|PMID:27882258|PMID:28432012|PMID:28446956|PMID:28454995|PMID:28468868|PMID:28492532|PMID:28559085|PMID:28600779|PMID:28857144|PMID:29261186|PMID:29377746|PMID:29419819|PMID:29588463|PMID:29907799|PMID:30362618|PMID:30561787|PMID:30577886|PMID:30733538|PMID:30755224|PMID:31150129|PMID:31216405|PMID:31319225|PMID:31374812|PMID:31589614|PMID:31628608|PMID:31664448|PMID:31742715|PMID:31831025|PMID:31884617|PMID:3196484|PMID:31964843|PMID:31980526|PMID:32056211|PMID:32203225|PMID:32214227|PMID:32483926|PMID:32596134|PMID:32866347|PMID:32959227|PMID:33083013|PMID:33240318|PMID:33708531|PMID:33726816|PMID:33749171|PMID:33955040|PMID:33955814|PMID:34426522|PMID:34448047|PMID:34513757|PMID:34744965|PMID:34758253|PMID:34974531|PMID:35322241|PMID:35586607|PMID:36046390|PMID:36631813|PMID:37385119|PMID:9398847|PMID:9398848|PMID:9536098|PMID:9539740 8720878 Pex1 peroxisomal biogenesis factor 1 gene DOID:906 peroxisomal disease ISO RGD:1346322 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Peroxisomal disorder PMID:10384394|PMID:10447258|PMID:11389485|PMID:12402331|PMID:15098231|PMID:16141001|PMID:17055079|PMID:19105186|PMID:20301621|PMID:21031596|PMID:21846392|PMID:21862673|PMID:22871920|PMID:24503136|PMID:25412400|PMID:25741868|PMID:26219880|PMID:26287655|PMID:26467025|PMID:26643206|PMID:27090541|PMID:27872819|PMID:27882258|PMID:28492532|PMID:28559085|PMID:29377746|PMID:29588463|PMID:29907799|PMID:30362618|PMID:30577886|PMID:31150129|PMID:31216405|PMID:31319225|PMID:31374812|PMID:31589614|PMID:31664448|PMID:31884617|PMID:31964843|PMID:31980526|PMID:32866347|PMID:33749171|PMID:34426522|PMID:34758253|PMID:35586607|PMID:36631813|PMID:9398847|PMID:9398848 8720912 Tnc tenascin C gene DOID:0080322 polycystic kidney disease ISO RGD:621057 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:15565633|REF_RGD_ID:4889614 8720912 Tnc tenascin C gene DOID:0110581 autosomal dominant nonsyndromic deafness 56 ISO RGD:1354144 D RGD:7240710 20180130 OMIM 8720912 Tnc tenascin C gene DOID:0110581 autosomal dominant nonsyndromic deafness 56 ISO RGD:1354144 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 56 | ClinVar Annotator: match by term: TNC-related condition PMID:21681106|PMID:23936043|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29531218|PMID:30311386|PMID:31190668|PMID:36597107 8720912 Tnc tenascin C gene DOID:10003 sensorineural hearing loss ISO RGD:1354144 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Progressive sensorineural hearing impairment PMID:25741868 8720912 Tnc tenascin C gene DOID:10320 asbestosis ISO RGD:1354144 D RGD:9068941 20200609 RGD protein:increased expression:pleura PMID:10950882|REF_RGD_ID:4889594 8720912 Tnc tenascin C gene DOID:106 pleural tuberculosis ISO RGD:1354144 D RGD:9068941 20200609 RGD protein:increased expression:pleura PMID:10950882|REF_RGD_ID:4889594 8720912 Tnc tenascin C gene DOID:11204 allergic conjunctivitis ISO RGD:1354144 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:18305139|REF_RGD_ID:4889589 8720912 Tnc tenascin C gene DOID:11830 myopia ISO RGD:1354144 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopia PMID:25741868 8720912 Tnc tenascin C gene DOID:13100 intracranial vasospasm ISO RGD:1354144 D RGD:9068941 20200609 RGD associated with Subarachnoid Hemorrhage;protein:increased expression:serum PMID:19589197|REF_RGD_ID:4889600 8720912 Tnc tenascin C gene DOID:1324 lung cancer ISO RGD:1354144 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:16928692|REF_RGD_ID:4889612 8720912 Tnc tenascin C gene DOID:13406 pulmonary sarcoidosis ISO RGD:1354144 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:9780295|REF_RGD_ID:4889595 8720912 Tnc tenascin C gene DOID:1532 pleural disease ISO RGD:1354144 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10950882 8720912 Tnc tenascin C gene DOID:1909 melanoma ISO RGD:1354144 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22842228 8720912 Tnc tenascin C gene DOID:2841 asthma ISO RGD:1354144 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16115819 8720912 Tnc tenascin C gene DOID:2841 asthma ISO RGD:1354144 D RGD:9068941 20200609 RGD DNA:SNP:exon:p.L1677I (human) PMID:16115819|REF_RGD_ID:4889569 8720912 Tnc tenascin C gene DOID:2841 asthma ISO RGD:1354144 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:18305139|REF_RGD_ID:4889589 8720912 Tnc tenascin C gene DOID:2841 asthma ISO RGD:1354144 D RGD:9068941 20200609 RGD protein:increased expression:bronchus basement membrane PMID:9310019|REF_RGD_ID:4889572 8720912 Tnc tenascin C gene DOID:2841 asthma ISO RGD:1615156 D RGD:9068941 20200609 RGD PMID:17125141|REF_RGD_ID:4889565 8720912 Tnc tenascin C gene DOID:289 endometriosis ISO RGD:1354144 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 8720912 Tnc tenascin C gene DOID:3068 glioblastoma ISO RGD:1354144 D RGD:9068941 20200609 RGD PMID:16928692|REF_RGD_ID:4889612 8720912 Tnc tenascin C gene DOID:3070 high grade glioma ISO RGD:621057 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:16928692|REF_RGD_ID:4889612 8720912 Tnc tenascin C gene DOID:3798 pleural empyema ISO RGD:1354144 D RGD:9068941 20200609 RGD protein:increased expression:pleura PMID:10950882|REF_RGD_ID:4889594 8720912 Tnc tenascin C gene DOID:4947 cholangiocarcinoma severity ISO RGD:621057 D RGD:9068941 20200609 RGD PMID:20816680|REF_RGD_ID:4889598 8720912 Tnc tenascin C gene DOID:552 pneumonia ISO RGD:1354144 D RGD:9068941 20200609 RGD protein:increased expression:serum, respiratory system fluid/secretion PMID:19721293|REF_RGD_ID:4889573 8720912 Tnc tenascin C gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1354144 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 PMID:25741868 8720912 Tnc tenascin C gene DOID:5844 myocardial infarction ISO RGD:621057 D RGD:9068941 20200609 RGD protein:increased expression:heart, fibroblast PMID:11454990|REF_RGD_ID:4889618 8720912 Tnc tenascin C gene DOID:6432 pulmonary hypertension ISO RGD:1354144 D RGD:9068941 20200609 RGD PMID:16782755|REF_RGD_ID:4889567 8720912 Tnc tenascin C gene DOID:6432 pulmonary hypertension ISO RGD:1354144 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:20528622|REF_RGD_ID:4889562 8720912 Tnc tenascin C gene DOID:6432 pulmonary hypertension ISO RGD:621057 D RGD:9068941 20200609 RGD PMID:15879421|REF_RGD_ID:4889570 8720912 Tnc tenascin C gene DOID:6432 pulmonary hypertension severity ISO RGD:621057 D RGD:9068941 20200609 RGD PMID:19288153|REF_RGD_ID:4889564 8720912 Tnc tenascin C gene DOID:799 varicose veins ISO RGD:1354144 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17643059 8720912 Tnc tenascin C gene DOID:841 extrinsic allergic alveolitis ISO RGD:1354144 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:9780295|REF_RGD_ID:4889595 8720912 Tnc tenascin C gene DOID:850 lung disease ISO RGD:10271 D RGD:9068941 20200609 RGD Acute Lung Injury PMID:16690978|REF_RGD_ID:4889568 8720912 Tnc tenascin C gene DOID:850 lung disease ISO RGD:1615156 D RGD:9068941 20200609 RGD Acute Lung Injury PMID:20833777|REF_RGD_ID:4889561 8720912 Tnc tenascin C gene DOID:9000039 Spinal Cord Injuries ISO RGD:621057 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord PMID:11085900|REF_RGD_ID:4889619 8720912 Tnc tenascin C gene DOID:9000310 Lung Injury ISO RGD:1354144 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18978301 8720912 Tnc tenascin C gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:621057 D RGD:9068941 20200609 RGD protein:increased expression:basilar artery PMID:19589197|REF_RGD_ID:4889600 8720912 Tnc tenascin C gene DOID:9000965 Neoplasm Metastasis ISO RGD:1354144 D RGD:9068941 20200609 RGD associated with Carcinoma, Renal Cell;protein:increased expression:lung PMID:16928692|REF_RGD_ID:4889612 8720912 Tnc tenascin C gene DOID:9001472 Nasal Polyps ISO RGD:1354144 D RGD:9068941 20200609 RGD protein:increased expression:nasal cavity epithelium PMID:12916355|REF_RGD_ID:4889591 8720912 Tnc tenascin C gene DOID:9003566 Mesothelioma ISO RGD:1354144 D RGD:9068941 20200609 RGD PMID:16928692|REF_RGD_ID:4889612 8720912 Tnc tenascin C gene DOID:9003566 Mesothelioma disease_progression ISO RGD:1354144 D RGD:9068941 20200609 RGD PMID:12605648|REF_RGD_ID:4889571 8720912 Tnc tenascin C gene DOID:9004538 Hearing Loss ISO RGD:1354144 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:30311386 8720912 Tnc tenascin C gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621057 D RGD:9068941 20200609 RGD PMID:17999372|REF_RGD_ID:4889609 8720912 Tnc tenascin C gene DOID:9006041 Osteoarthritis, Hip ISO RGD:1354144 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30374069 8720912 Tnc tenascin C gene DOID:9007480 Hyperoxia ISO RGD:1615156 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:17001473|REF_RGD_ID:4889566 8720912 Tnc tenascin C gene DOID:9007736 Vertigo ISO RGD:1354144 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Vertigo PMID:25741868 8720912 Tnc tenascin C gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:621057 D RGD:9068941 20200609 RGD PMID:20554738|REF_RGD_ID:4889599 8720912 Tnc tenascin C gene DOID:9849 Meniere's disease ISO RGD:1354144 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Meniere disease | ClinVar Annotator: match by term: Ménière's disease PMID:25741868 8720946 Swt1 SWT1 RNA endoribonuclease homolog gene DOID:11372 megacolon ISO RGD:1318617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8720946 Swt1 SWT1 RNA endoribonuclease homolog gene DOID:1540 parathyroid carcinoma ISO RGD:1318617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8720946 Swt1 SWT1 RNA endoribonuclease homolog gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8720991 Igf2bp2 insulin like growth factor 2 mRNA binding protein 2 gene DOID:0111546 Currarino syndrome ISO RGD:1606569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 8720991 Igf2bp2 insulin like growth factor 2 mRNA binding protein 2 gene DOID:2513 basal cell carcinoma ISO RGD:1606569 D RGD:9068941 20240606 CTD CTD Direct Evidence: marker/mechanism PMID:36428691 8720991 Igf2bp2 insulin like growth factor 2 mRNA binding protein 2 gene DOID:9007051 Autosomal Dominant Tubulointerstitial Kidney Disease 1 ISO RGD:1606569 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Uromodulin-associated kidney disease PMID:25741868 8720991 Igf2bp2 insulin like growth factor 2 mRNA binding protein 2 gene DOID:9007692 Insulin Resistance ISO RGD:1606569 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35226250 8720991 Igf2bp2 insulin like growth factor 2 mRNA binding protein 2 gene DOID:9007964 Arsenic Poisoning ISO RGD:1606569 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35226250 8720991 Igf2bp2 insulin like growth factor 2 mRNA binding protein 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1606569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to PMID:17463246|PMID:17463248|PMID:17463249 8720991 Igf2bp2 insulin like growth factor 2 mRNA binding protein 2 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:1606569 D RGD:7240710 20230505 OMIM 8721023 LOC102009464 chromosome unknown open reading frame, human C5orf15 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1321206 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8721023 LOC102009464 chromosome unknown open reading frame, human C5orf15 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8721023 LOC102009464 chromosome unknown open reading frame, human C5orf15 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321206 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8721051 Tnpo1 transportin 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8721124 Dnm2 dynamin 2 gene DOID:0050543 Charcot-Marie-Tooth disease intermediate type ISO RGD:730970 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth, Intermediate PMID:25741868|PMID:28492532 8721124 Dnm2 dynamin 2 gene DOID:0050990 episodic ataxia type 2 ISO RGD:730970 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 8721124 Dnm2 dynamin 2 gene DOID:0080089 tubular aggregate myopathy 1 ISO RGD:730970 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: MYOTUBULAR MYOPATHY, AUTOSOMAL DOMINANT PMID:16227997|PMID:17008356|PMID:17825552|PMID:18414213|PMID:19130742|PMID:20227276|PMID:20529869|PMID:20858595|PMID:20927630|PMID:21221624|PMID:21514436|PMID:21762456|PMID:22096584|PMID:22369075|PMID:22396310|PMID:22613877|PMID:23338057|PMID:23394783|PMID:24088041|PMID:24465259|PMID:25262827|PMID:25501959|PMID:25741868|PMID:25957634|PMID:26199319|PMID:26273216|PMID:26467025|PMID:26633545|PMID:26908122|PMID:2734399|PMID:27343996|PMID:28492532|PMID:31017801|PMID:32315611|PMID:34463354|PMID:34595679|PMID:34837441|PMID:36324371|PMID:39825153 8721124 Dnm2 dynamin 2 gene DOID:0080307 myofibrillar myopathy ISO RGD:730970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy PMID:25741868|PMID:28492532 8721124 Dnm2 dynamin 2 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:730970 D RGD:7240710 20180130 OMIM 8721124 Dnm2 dynamin 2 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:730970 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE B | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate B, with neutropenia PMID:15731758|PMID:16199547|PMID:16227997|PMID:17008356|PMID:17576681|PMID:17636067|PMID:17825552|PMID:17932957|PMID:18394888|PMID:18414213|PMID:18560793|PMID:19122038|PMID:19130742|PMID:19502294|PMID:19623537|PMID:19932619|PMID:19932620|PMID:20227276|PMID:20529869|PMID:20700106|PMID:20817456|PMID:20858595|PMID:20927630|PMID:21221624|PMID:21514436|PMID:21762456|PMID:22091729|PMID:22096584|PMID:22369075|PMID:22396310|PMID:22451505|PMID:22613877|PMID:23092955|PMID:23338057|PMID:23374900|PMID:23394783|PMID:23806086|PMID:24016602|PMID:24033266|PMID:24088041|PMID:24135484|PMID:24215330|PMID:24366529|PMID:24465259|PMID:24728327|PMID:25025039|PMID:25214167|PMID:25259927|PMID:25262827|PMID:25326635|PMID:25492887|PMID:25501959|PMID:25640679|PMID:25741868|PMID:25957634|PMID:26199319|PMID:26273216|PMID:26275793|PMID:26392352|PMID:26467025|PMID:26503427|PMID:26633545|PMID:26842864|PMID:26908122|PMID:27328317|PMID:2734399|PMID:27343996|PMID:27549087|PMID:27572814|PMID:27698851|PMID:27854218|PMID:28357347|PMID:28357410|PMID:28492532|PMID:28532469|PMID:28676641|PMID:28708278|PMID:28971531|PMID:29653220|PMID:30103202|PMID:30146126|PMID:30208955|PMID:30373780|PMID:31017801|PMID:31407473|PMID:32315611|PMID:32528171|PMID:32657593|PMID:32860008|PMID:33333461|PMID:33369814|PMID:33459893|PMID:34008892|PMID:34354735|PMID:34463354|PMID:34595679|PMID:34768808|PMID:34837441|PMID:35993408|PMID:36142275|PMID:36324371|PMID:36964972|PMID:37273706|PMID:39825153|PMID:9536098 8721124 Dnm2 dynamin 2 gene DOID:0111217 autosomal dominant centronuclear myopathy ISO RGD:730970 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy PMID:16199547|PMID:16227997|PMID:17008356|PMID:17825552|PMID:17932957|PMID:18414213|PMID:19130742|PMID:19623537|PMID:19932619|PMID:20227276|PMID:20529869|PMID:20700106|PMID:20817456|PMID:20858595|PMID:20927630|PMID:21221624|PMID:21514436|PMID:21762456|PMID:22096584|PMID:22369075|PMID:22396310|PMID:22613877|PMID:23338057|PMID:23374900|PMID:23394783|PMID:24016602|PMID:24033266|PMID:24088041|PMID:24135484|PMID:24366529|PMID:24465259|PMID:24728327|PMID:25214167|PMID:25262827|PMID:25326635|PMID:25492887|PMID:25501959|PMID:25741868|PMID:25957634|PMID:26199319|PMID:26273216|PMID:26467025|PMID:26503427|PMID:26633545|PMID:26842864|PMID:26908122|PMID:2734399|PMID:27343996|PMID:27572814|PMID:27698851|PMID:27854218|PMID:28357410|PMID:28492532|PMID:28676641|PMID:30103202|PMID:31017801|PMID:32315611|PMID:32860008|PMID:34008892|PMID:34354735|PMID:34463354|PMID:34595679|PMID:34837441|PMID:36142275|PMID:36324371|PMID:39825153 8721124 Dnm2 dynamin 2 gene DOID:0111223 centronuclear myopathy 1 ISO RGD:730970 D RGD:7240710 20180130 OMIM 8721124 Dnm2 dynamin 2 gene DOID:0111223 centronuclear myopathy 1 ISO RGD:730970 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Centronuclear Myopathy, Dominant | ClinVar Annotator: match by term: Myopathy, centronuclear, 1 PMID:16227997|PMID:17008356|PMID:17825552|PMID:18414213|PMID:19130742|PMID:20227276|PMID:20529869|PMID:20858595|PMID:20927630|PMID:21221624|PMID:21514436|PMID:21762456|PMID:22096584|PMID:22369075|PMID:22396310|PMID:22613877|PMID:23338057|PMID:23394783|PMID:24088041|PMID:24465259|PMID:25262827|PMID:25501959|PMID:25741868|PMID:25957634|PMID:26199319|PMID:26273216|PMID:26467025|PMID:26633545|PMID:26908122|PMID:2734399|PMID:27343996|PMID:28492532|PMID:31017801|PMID:32315611|PMID:34463354|PMID:34595679|PMID:34837441|PMID:36324371|PMID:39825153 8721124 Dnm2 dynamin 2 gene DOID:0111225 centronuclear myopathy X-linked ISO RGD:730970 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Severe X-linked myotubular myopathy PMID:17932957|PMID:18414213|PMID:20227276|PMID:20700106|PMID:22396310|PMID:23338057|PMID:24135484|PMID:25741868|PMID:25957634|PMID:26199319|PMID:28492532|PMID:32860008 8721124 Dnm2 dynamin 2 gene DOID:0111254 glutaric acidemia I ISO RGD:730970 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 8721124 Dnm2 dynamin 2 gene DOID:0111989 immunodeficiency 35 ISO RGD:730970 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Immunodeficiency 35 PMID:28492532 8721124 Dnm2 dynamin 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:730970 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:15731758|PMID:16227997|PMID:17636067|PMID:18394888|PMID:18414213|PMID:20529869|PMID:20817456|PMID:21762456|PMID:22091729|PMID:22396310|PMID:22613877|PMID:24016602|PMID:25025039|PMID:25492887|PMID:25501959|PMID:25741868|PMID:27328317|PMID:28492532|PMID:28676641|PMID:34768808 8721124 Dnm2 dynamin 2 gene DOID:11252 microcytic anemia ISO RGD:730971 D RGD:9068941 20221117 MouseDO OMIM:206200 8721124 Dnm2 dynamin 2 gene DOID:13810 familial hypercholesterolemia ISO RGD:730970 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia PMID:16250003|PMID:20809525|PMID:21382890|PMID:28492532|PMID:28645073 8721124 Dnm2 dynamin 2 gene DOID:14717 centronuclear myopathy ISO RGD:730970 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Centronuclear myopathy PMID:16227997|PMID:17008356|PMID:17825552|PMID:17932957|PMID:18414213|PMID:19130742|PMID:19623537|PMID:19932619|PMID:19932620|PMID:20227276|PMID:20529869|PMID:20700106|PMID:20817456|PMID:20858595|PMID:20927630|PMID:21221624|PMID:21514436|PMID:21762456|PMID:22096584|PMID:22369075|PMID:22396310|PMID:22613877|PMID:23338057|PMID:23394783|PMID:24016602|PMID:24088041|PMID:24135484|PMID:24366529|PMID:24465259|PMID:25262827|PMID:25326635|PMID:25492887|PMID:25501959|PMID:25741868|PMID:25957634|PMID:26199319|PMID:26273216|PMID:26467025|PMID:26503427|PMID:26633545|PMID:26842864|PMID:26908122|PMID:2734399|PMID:27343996|PMID:28357410|PMID:28492532|PMID:28676641|PMID:31017801|PMID:32315611|PMID:32860008|PMID:34463354|PMID:34595679|PMID:34837441|PMID:36142275|PMID:36324371|PMID:39825153 8721124 Dnm2 dynamin 2 gene DOID:2975 cystic kidney disease ISO RGD:730971 D RGD:9068941 20220825 MouseDO 8721124 Dnm2 dynamin 2 gene DOID:3413 alpha-mannosidosis ISO RGD:730970 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 8721124 Dnm2 dynamin 2 gene DOID:422 congenital structural myopathy ISO RGD:730970 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy | ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy PMID:16227997|PMID:17008356|PMID:17932957|PMID:18414213|PMID:19130742|PMID:20227276|PMID:20529869|PMID:20817456|PMID:20858595|PMID:20927630|PMID:21221624|PMID:21762456|PMID:22096584|PMID:22369075|PMID:22396310|PMID:22613877|PMID:23338057|PMID:23394783|PMID:24016602|PMID:24033266|PMID:24088041|PMID:24465259|PMID:24728327|PMID:25214167|PMID:25262827|PMID:25326635|PMID:25492887|PMID:25501959|PMID:25741868|PMID:25957634|PMID:26199319|PMID:26273216|PMID:26467025|PMID:26633545|PMID:26842864|PMID:26908122|PMID:2734399|PMID:27343996|PMID:27698851|PMID:27854218|PMID:28492532|PMID:28676641|PMID:30103202|PMID:32860008|PMID:34008892 8721124 Dnm2 dynamin 2 gene DOID:422 congenital structural myopathy ISO RGD:730970 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy | ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy | ClinVar Annotator: match by term: Myotubular myopathy PMID:16199547|PMID:16227997|PMID:17008356|PMID:17825552|PMID:17932957|PMID:18414213|PMID:19130742|PMID:19623537|PMID:19932619|PMID:20227276|PMID:20529869|PMID:20700106|PMID:20817456|PMID:20858595|PMID:20927630|PMID:21221624|PMID:21514436|PMID:21762456|PMID:22096584|PMID:22369075|PMID:22396310|PMID:22613877|PMID:23338057|PMID:23374900|PMID:23394783|PMID:24016602|PMID:24033266|PMID:24088041|PMID:24135484|PMID:24366529|PMID:24465259|PMID:24728327|PMID:25214167|PMID:25262827|PMID:25326635|PMID:25492887|PMID:25501959|PMID:25741868|PMID:25957634|PMID:26199319|PMID:26273216|PMID:26467025|PMID:26503427|PMID:26633545|PMID:26842864|PMID:26908122|PMID:2734399|PMID:27343996|PMID:27572814|PMID:27698851|PMID:27854218|PMID:28357410|PMID:28492532|PMID:28676641|PMID:30103202|PMID:31017801|PMID:32315611|PMID:32860008|PMID:34008892|PMID:34354735|PMID:34463354|PMID:34595679|PMID:34837441|PMID:36142275|PMID:36324371|PMID:39825153 8721124 Dnm2 dynamin 2 gene DOID:423 myopathy ISO RGD:730970 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Myopathy PMID:16227997|PMID:17008356|PMID:17825552|PMID:18414213|PMID:19130742|PMID:20227276|PMID:20529869|PMID:20927630|PMID:21221624|PMID:21762456|PMID:22396310|PMID:22613877|PMID:23338057|PMID:23394783|PMID:24465259|PMID:25262827|PMID:25501959|PMID:25741868|PMID:25957634|PMID:26199319|PMID:26273216|PMID:28492532|PMID:39825153 8721124 Dnm2 dynamin 2 gene DOID:574 peripheral nervous system disease ISO RGD:730970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:18414213|PMID:24728327|PMID:26467025|PMID:27854218|PMID:28492532 8721124 Dnm2 dynamin 2 gene DOID:630 genetic disease ISO RGD:730970 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:17636067|PMID:18414213|PMID:22730194|PMID:24215330|PMID:24728327|PMID:25214167|PMID:25501959|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26517984|PMID:27572814|PMID:27698851|PMID:27854218|PMID:28492532|PMID:28532469|PMID:28708278|PMID:29653220|PMID:30103202|PMID:30146126|PMID:30208955|PMID:30373780|PMID:32657593|PMID:33333461|PMID:33369814|PMID:35993408|PMID:36964972|PMID:37273706|PMID:9536098 8721124 Dnm2 dynamin 2 gene DOID:870 neuropathy ISO RGD:730970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:18414213|PMID:24728327|PMID:26467025|PMID:27854218|PMID:28492532 8721124 Dnm2 dynamin 2 gene DOID:9004426 Lethal Congenital Contracture Syndrome 5 ISO RGD:730970 D RGD:7240710 20180130 OMIM 8721124 Dnm2 dynamin 2 gene DOID:9004426 Lethal Congenital Contracture Syndrome 5 ISO RGD:730970 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Lethal congenital contracture syndrome 5 PMID:18414213|PMID:23092955|PMID:25741868|PMID:26467025|PMID:28492532 8721124 Dnm2 dynamin 2 gene DOID:9008014 Charcot-Marie-Tooth Disease, Dominant Intermediate 1 ISO RGD:730970 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate 1 PMID:16227997|PMID:17008356|PMID:17636067|PMID:17825552|PMID:18414213|PMID:18560793|PMID:19130742|PMID:19502294|PMID:20227276|PMID:20529869|PMID:20858595|PMID:20927630|PMID:21221624|PMID:21514436|PMID:21762456|PMID:22096584|PMID:22369075|PMID:22396310|PMID:22451505|PMID:22613877|PMID:23092955|PMID:23338057|PMID:23394783|PMID:23806086|PMID:24088041|PMID:24465259|PMID:25259927|PMID:25262827|PMID:25501959|PMID:25741868|PMID:25957634|PMID:26199319|PMID:26273216|PMID:26467025|PMID:26633545|PMID:26908122|PMID:2734399|PMID:27343996|PMID:28357347|PMID:28492532|PMID:31017801|PMID:32315611|PMID:34463354|PMID:34595679|PMID:34837441|PMID:36324371|PMID:39825153 8721124 Dnm2 dynamin 2 gene DOID:9277 primary cerebellar degeneration ISO RGD:730970 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Sensorimotor neuropathy PMID:17636067|PMID:25741868|PMID:28492532|PMID:30373780|PMID:35993408 8721176 Mansc1 MANSC domain containing 1 gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1353615 D RGD:8554872 20230829 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 PMID:28492532 8721183 Phldb3 pleckstrin homology like domain family B member 3 gene DOID:5419 schizophrenia ISO RGD:1345533 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8721235 Mtrex Mtr4 exosome RNA helicase gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1606819 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral blood lymphocyte (human) PMID:23006766|REF_RGD_ID:11041891 8721235 Mtrex Mtr4 exosome RNA helicase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606819 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8721235 Mtrex Mtr4 exosome RNA helicase gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1606819 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 8721273 Dpp4 dipeptidyl peptidase 4 gene DOID:0080599 Coronavirus infectious disease ISO RGD:737491 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30626688 8721273 Dpp4 dipeptidyl peptidase 4 gene DOID:0080642 Middle East respiratory syndrome ISO RGD:10481 D RGD:9068941 20220825 MouseDO 8721273 Dpp4 dipeptidyl peptidase 4 gene DOID:0080642 Middle East respiratory syndrome ISO RGD:737491 D RGD:9068941 20200618 RGD PMID:30626685|REF_RGD_ID:30309198 8721273 Dpp4 dipeptidyl peptidase 4 gene DOID:0080642 Middle East respiratory syndrome severity ISO RGD:737491 D RGD:9068941 20200618 RGD PMID:31838832|REF_RGD_ID:30309204 8721273 Dpp4 dipeptidyl peptidase 4 gene DOID:0080642 Middle East respiratory syndrome treatment ISO RGD:737491 D RGD:9068941 20200626 RGD human gene in mouse model PMID:30256968|REF_RGD_ID:30309959 8721273 Dpp4 dipeptidyl peptidase 4 gene DOID:12849 autistic disorder ISO RGD:737491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:18414213|PMID:25741868 8721273 Dpp4 dipeptidyl peptidase 4 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:737491 D RGD:9068941 20220526 RGD protein:increased expression: esophagus PMID:24789592|REF_RGD_ID:152600903 8721273 Dpp4 dipeptidyl peptidase 4 gene DOID:576 proteinuria ISO RGD:737491 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2880436 8721273 Dpp4 dipeptidyl peptidase 4 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10481 D RGD:9068941 20200609 RGD PMID:19765579|REF_RGD_ID:2313699 8721273 Dpp4 dipeptidyl peptidase 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737491 D RGD:9068941 20200609 RGD PMID:19705345|REF_RGD_ID:2313700 8721273 Dpp4 dipeptidyl peptidase 4 gene DOID:9744 type 1 diabetes mellitus ISO RGD:10481 D RGD:9068941 20200609 RGD PMID:19073764|REF_RGD_ID:2313702 8721316 Hmgn1 high mobility group nucleosome binding domain 1 gene DOID:12849 autistic disorder ISO RGD:1317138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8721316 Hmgn1 high mobility group nucleosome binding domain 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1317138 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24747640 8721324 Upk2 uroplakin 2 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1353269 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8721324 Upk2 uroplakin 2 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1353269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 8721324 Upk2 uroplakin 2 gene DOID:0070614 chromosome 11 partial duplication syndrome ISO RGD:1353269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8721324 Upk2 uroplakin 2 gene DOID:0080690 RASopathy ISO RGD:1353269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8721324 Upk2 uroplakin 2 gene DOID:0081330 glycogen storage disease Ib ISO RGD:1353269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 8721324 Upk2 uroplakin 2 gene DOID:0110651 long QT syndrome 10 ISO RGD:1353269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 8721324 Upk2 uroplakin 2 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1353269 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8721324 Upk2 uroplakin 2 gene DOID:0111971 immunodeficiency 18 ISO RGD:1353269 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8721324 Upk2 uroplakin 2 gene DOID:0111972 immunodeficiency 19 ISO RGD:1353269 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8721324 Upk2 uroplakin 2 gene DOID:0111973 immunodeficiency 17 ISO RGD:1353269 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8721324 Upk2 uroplakin 2 gene DOID:9000363 Hematuria ISO RGD:1353269 D RGD:9068941 20240606 CTD CTD Direct Evidence: marker/mechanism PMID:26424769 8721324 Upk2 uroplakin 2 gene DOID:9004100 Familial Atrial Fibrillation 14 ISO RGD:1353269 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 PMID:28492532 8721324 Upk2 uroplakin 2 gene DOID:9007661 Dwarfism ISO RGD:1353269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8721335 Actl8 actin like 8 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1602092 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8721345 Ndufa10 NADH:ubiquinone oxidoreductase subunit A10 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1351390 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:25741868|PMID:28492532 8721345 Ndufa10 NADH:ubiquinone oxidoreductase subunit A10 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1351390 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8721345 Ndufa10 NADH:ubiquinone oxidoreductase subunit A10 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1351390 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8721345 Ndufa10 NADH:ubiquinone oxidoreductase subunit A10 gene DOID:0111670 primary hyperoxaluria type 1 ISO RGD:1351390 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:22821680 8721345 Ndufa10 NADH:ubiquinone oxidoreductase subunit A10 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1351390 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 8721345 Ndufa10 NADH:ubiquinone oxidoreductase subunit A10 gene DOID:0112069 nuclear type mitochondrial complex I deficiency 22 ISO RGD:1351390 D RGD:7240710 20190315 OMIM 8721345 Ndufa10 NADH:ubiquinone oxidoreductase subunit A10 gene DOID:0112069 nuclear type mitochondrial complex I deficiency 22 ISO RGD:1351390 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22 | ClinVar Annotator: match by term: NDUFA10-related condition PMID:21150889|PMID:22972949|PMID:25741868|PMID:28247337|PMID:28492532|PMID:33233646|PMID:34827632|PMID:34828274 8721345 Ndufa10 NADH:ubiquinone oxidoreductase subunit A10 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1351390 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:25741868|PMID:28492532 8721345 Ndufa10 NADH:ubiquinone oxidoreductase subunit A10 gene DOID:1059 intellectual disability ISO RGD:1351390 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8721345 Ndufa10 NADH:ubiquinone oxidoreductase subunit A10 gene DOID:3652 Leigh disease ISO RGD:1351390 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:25741868|PMID:28492532 8721345 Ndufa10 NADH:ubiquinone oxidoreductase subunit A10 gene DOID:5419 schizophrenia ISO RGD:1351390 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 8721345 Ndufa10 NADH:ubiquinone oxidoreductase subunit A10 gene DOID:630 genetic disease ISO RGD:1351390 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8721345 Ndufa10 NADH:ubiquinone oxidoreductase subunit A10 gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1351390 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:25741868|PMID:28492532 8721345 Ndufa10 NADH:ubiquinone oxidoreductase subunit A10 gene DOID:9001550 Bethlem Myopathy 1A ISO RGD:1351390 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1A PMID:26004199|PMID:28492532 8721359 Pcm1 pericentriolar material 1 gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:1349730 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:28492532 8721359 Pcm1 pericentriolar material 1 gene DOID:5419 schizophrenia ISO RGD:1349730 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19048012 8721359 Pcm1 pericentriolar material 1 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1349730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 PMID:10980597|PMID:25741868 8721481 Stac2 SH3 and cysteine rich domain 2 gene DOID:9002189 High Myopia ISO RGD:1313639 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 8721481 Stac2 SH3 and cysteine rich domain 2 gene DOID:9007491 Childhood Schizophrenia ISO RGD:1313639 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Childhood-onset schizophrenia PMID:26508570 8721499 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:0060040 pervasive developmental disorder ISO RGD:1347453 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Pervasive developmental disorder PMID:25741868|PMID:28135719|PMID:35395208 8721499 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:0070420 developmental delay, hypotonia, and impaired language ISO RGD:1347453 D RGD:7240710 20221109 OMIM 8721499 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:0070420 developmental delay, hypotonia, and impaired language ISO RGD:1347453 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Developmental delay, hypotonia, and impaired language | ClinVar Annotator: match by term: FBXW7-related condition PMID:24728327|PMID:25741868|PMID:28135719|PMID:28492532|PMID:35395208 8721499 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1347453 D RGD:9068941 20250109 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 8721499 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:2513 basal cell carcinoma ISO RGD:1347453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26950094 8721499 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:3070 high grade glioma ISO RGD:1347453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18931460 8721499 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1347453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25151357 8721499 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1347453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of lung | ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:25741868|PMID:26619011 8721499 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1347453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19246562|PMID:24394663 8721499 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:630 genetic disease ISO RGD:1347453 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8721499 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:8923 skin melanoma ISO RGD:1347453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin PMID:25741868|PMID:26619011 8721499 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:9002981 Genomic Instability ISO RGD:1347453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17588203 8721499 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347453 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:33057194 8721499 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:9006618 Liver Metastasis disease_progression ISO RGD:1347453 D RGD:9068941 20200609 RGD associated with colorectal cancer; PMID:28846828|REF_RGD_ID:21408566 8721499 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1347453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23104009 8721499 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:9008086 Developmental Disabilities ISO RGD:1347453 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Developmental delay PMID:25741868 8721499 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:9008939 Breast Neoplasms ISO RGD:1347453 D RGD:9068941 20250109 CTD CTD Direct Evidence: marker/mechanism PMID:17588203 8721499 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:9256 colorectal cancer ISO RGD:1347453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer 8721541 Cpt1a carnitine palmitoyltransferase 1A gene DOID:0014667 disease of metabolism ISO RGD:735945 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Metabolic disease 8721541 Cpt1a carnitine palmitoyltransferase 1A gene DOID:0061060 immunodeficiency 90 ISO RGD:735945 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8721541 Cpt1a carnitine palmitoyltransferase 1A gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:735945 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29289645 8721541 Cpt1a carnitine palmitoyltransferase 1A gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease treatment ISO RGD:10390 D RGD:9068941 20200609 RGD PMID:31211621|REF_RGD_ID:14747028 8721541 Cpt1a carnitine palmitoyltransferase 1A gene DOID:0080547 metabolic dysfunction-associated steatohepatitis treatment ISO RGD:2396 D RGD:9068941 20230914 RGD PMID:28458350|REF_RGD_ID:401799674 8721541 Cpt1a carnitine palmitoyltransferase 1A gene DOID:0090129 carnitine palmitoyltransferase I deficiency ISO RGD:735945 D RGD:7240710 20180130 OMIM 8721541 Cpt1a carnitine palmitoyltransferase 1A gene DOID:0090129 carnitine palmitoyltransferase I deficiency ISO RGD:735945 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Carnitine palmitoyl transferase 1A deficiency PMID:11350182|PMID:11350183|PMID:11441142|PMID:12111367|PMID:12189492|PMID:12351641|PMID:14517221|PMID:15110323|PMID:16146704|PMID:16169268|PMID:16199547|PMID:16958601|PMID:17576681|PMID:19181627|PMID:19217814|PMID:19345525|PMID:20301700|PMID:20696606|PMID:21253826|PMID:21763168|PMID:21962599|PMID:23090344|PMID:23430491|PMID:23430868|PMID:23430932|PMID:23700290|PMID:24033266|PMID:24847810|PMID:25449608|PMID:25640679|PMID:25741868|PMID:26010953|PMID:26820065|PMID:27066452|PMID:27341449|PMID:28125087|PMID:28468868|PMID:28492532|PMID:29519241|PMID:30101502|PMID:31319225|PMID:32088118|PMID:32561900|PMID:32781271|PMID:33845545|PMID:34131458|PMID:34869124|PMID:35360862|PMID:35822099|PMID:36544340|PMID:9048718|PMID:9536098|PMID:9691089 8721541 Cpt1a carnitine palmitoyltransferase 1A gene DOID:1059 intellectual disability ISO RGD:735945 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8721541 Cpt1a carnitine palmitoyltransferase 1A gene DOID:12351 alcoholic hepatitis treatment ISO RGD:2396 D RGD:9068941 20200609 RGD PMID:27939985|REF_RGD_ID:15036816 8721541 Cpt1a carnitine palmitoyltransferase 1A gene DOID:1936 atherosclerosis treatment ISO RGD:10390 D RGD:9068941 20231019 RGD PMID:23650230|REF_RGD_ID:401842363 8721541 Cpt1a carnitine palmitoyltransferase 1A gene DOID:3146 lipid metabolism disorder ISO RGD:735945 D RGD:9068941 20200609 RGD CPT IA deficiency, OMIM:255120, D454G PMID:9691089|REF_RGD_ID:1600732 8721541 Cpt1a carnitine palmitoyltransferase 1A gene DOID:3319 lymphangioleiomyomatosis ISO RGD:735945 D RGD:9068941 20220630 RGD protein:increased expression:lung (human) PMID:29885404|REF_RGD_ID:152995523 8721541 Cpt1a carnitine palmitoyltransferase 1A gene DOID:630 genetic disease ISO RGD:735945 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11441142|PMID:16169268|PMID:16958601|PMID:17576681|PMID:19181627|PMID:19217814|PMID:20301700|PMID:20696606|PMID:21253826|PMID:21763168|PMID:23090344|PMID:24847810|PMID:25449608|PMID:25741868|PMID:26010953|PMID:26820065|PMID:27341449|PMID:28125087|PMID:28492532|PMID:30101502|PMID:32088118|PMID:32561900|PMID:34131458|PMID:9536098 8721541 Cpt1a carnitine palmitoyltransferase 1A gene DOID:783 end stage renal disease ISO RGD:2396 D RGD:9068941 20230914 RGD protein:decreased expression:kidney (rat) PMID:19878707|REF_RGD_ID:2326081 8721541 Cpt1a carnitine palmitoyltransferase 1A gene DOID:783 end stage renal disease ISO RGD:735945 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19878707 8721541 Cpt1a carnitine palmitoyltransferase 1A gene DOID:9002371 Cardiotoxicity ISO RGD:2396 D RGD:9068941 20230713 RGD mRNA, protein:decreased expression:heart (rat) PMID:30644033|REF_RGD_ID:329955369 8721541 Cpt1a carnitine palmitoyltransferase 1A gene DOID:9002669 Hypoxia treatment ISO RGD:2396 D RGD:9068941 20230720 RGD mRNA:decreased expression:left ventricle myocardium (rat) PMID:33310031|REF_RGD_ID:329955450 8721541 Cpt1a carnitine palmitoyltransferase 1A gene DOID:9003139 Cardiac Fibrosis ISO RGD:2396 D RGD:9068941 20230713 RGD mRNA, protein:decreased expression:heart (rat) PMID:30644033|REF_RGD_ID:329955369 8721541 Cpt1a carnitine palmitoyltransferase 1A gene DOID:9004017 Chronic Hepatitis C ISO RGD:735945 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver hepatocytes PMID:15685545|REF_RGD_ID:5683635 8721541 Cpt1a carnitine palmitoyltransferase 1A gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:735945 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 8721541 Cpt1a carnitine palmitoyltransferase 1A gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:2396 D RGD:9068941 20230831 RGD mRNA:decreased expression:liver (rat) PMID:28959666|REF_RGD_ID:401794432 8721541 Cpt1a carnitine palmitoyltransferase 1A gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:735945 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8721541 Cpt1a carnitine palmitoyltransferase 1A gene DOID:9008939 Breast Neoplasms ISO RGD:735945 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25151356 8721541 Cpt1a carnitine palmitoyltransferase 1A gene DOID:9351 diabetes mellitus ISO RGD:735945 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233164 8721541 Cpt1a carnitine palmitoyltransferase 1A gene DOID:9352 type 2 diabetes mellitus ISO RGD:2396 D RGD:9068941 20200609 RGD PMID:19553925|REF_RGD_ID:2311344 8721541 Cpt1a carnitine palmitoyltransferase 1A gene DOID:9352 type 2 diabetes mellitus ISO RGD:735945 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 8721541 Cpt1a carnitine palmitoyltransferase 1A gene DOID:9970 obesity ISO RGD:2396 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:16751799|REF_RGD_ID:2311345 8721541 Cpt1a carnitine palmitoyltransferase 1A gene DOID:9970 obesity treatment ISO RGD:2396 D RGD:9068941 20230720 RGD mRNA:decreased expression:left ventricle myocardium (rat) PMID:33310031|REF_RGD_ID:329955450 8721567 Chpf chondroitin polymerizing factor gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1603198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 8721567 Chpf chondroitin polymerizing factor gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1603198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 8721567 Chpf chondroitin polymerizing factor gene DOID:1148 polydactyly ISO RGD:1603198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly 8721567 Chpf chondroitin polymerizing factor gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1603198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 8721567 Chpf chondroitin polymerizing factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8721581 Ptov1 PTOV1 extended AT-hook containing adaptor protein gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1315896 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:27066586|PMID:27232581|PMID:28492532 8721581 Ptov1 PTOV1 extended AT-hook containing adaptor protein gene DOID:2843 long QT syndrome ISO RGD:1315896 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 8721581 Ptov1 PTOV1 extended AT-hook containing adaptor protein gene DOID:9000217 Stomach Neoplasms ISO RGD:1315896 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8721581 Ptov1 PTOV1 extended AT-hook containing adaptor protein gene DOID:9000918 Disease Progression ISO RGD:1315896 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8721618 Rce1 Ras converting CAAX endopeptidase 1 gene DOID:0061060 immunodeficiency 90 ISO RGD:1319506 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8721618 Rce1 Ras converting CAAX endopeptidase 1 gene DOID:1059 intellectual disability ISO RGD:1319506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8721618 Rce1 Ras converting CAAX endopeptidase 1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1319506 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8721634 Selenom selenoprotein M gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1603181 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8721643 Rgs6 regulator of G protein signaling 6 gene DOID:0050741 alcohol dependence ISO RGD:736970 D RGD:9068941 20240502 RGD associated with other drug dependencies; DNA:SNPs:CDS: (rs11621871) PMID:27151647|REF_RGD_ID:405650603 8721643 Rgs6 regulator of G protein signaling 6 gene DOID:2560 morphine dependence treatment ISO RGD:736971 D RGD:9068941 20250301 RGD PMID:15199376|REF_RGD_ID:597830059 8721672 Ap2a2 adaptor related protein complex 2 subunit alpha 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8721672 Ap2a2 adaptor related protein complex 2 subunit alpha 2 gene DOID:0080773 delta beta-thalassemia ISO RGD:735567 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hereditary persistence of fetal hemoglobin PMID:2798417 8721672 Ap2a2 adaptor related protein complex 2 subunit alpha 2 gene DOID:0111969 immunodeficiency 39 ISO RGD:735567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 8721672 Ap2a2 adaptor related protein complex 2 subunit alpha 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:735567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8721672 Ap2a2 adaptor related protein complex 2 subunit alpha 2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:735567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 8721672 Ap2a2 adaptor related protein complex 2 subunit alpha 2 gene DOID:5572 Beckwith-Wiedemann syndrome ISO RGD:735567 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome PMID:21910219|PMID:25427884|PMID:28492532 8721672 Ap2a2 adaptor related protein complex 2 subunit alpha 2 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:735567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 8721724 Grap GRB2 related adaptor protein gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1353606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 8721724 Grap GRB2 related adaptor protein gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1353606 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 8721724 Grap GRB2 related adaptor protein gene DOID:0110980 Joubert syndrome 1 ISO RGD:1353606 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 8721724 Grap GRB2 related adaptor protein gene DOID:0111642 autosomal recessive nonsyndromic deafness 114 ISO RGD:1353606 D RGD:7240710 20190626 OMIM 8721724 Grap GRB2 related adaptor protein gene DOID:0111642 autosomal recessive nonsyndromic deafness 114 ISO RGD:1353606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing loss, autosomal recessive 114 PMID:25741868|PMID:30610177 8721724 Grap GRB2 related adaptor protein gene DOID:12849 autistic disorder ISO RGD:1353606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8721724 Grap GRB2 related adaptor protein gene DOID:9001634 Meckel Syndrome 9 ISO RGD:1353606 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 9 PMID:21493627 8721742 Ndufs8 NADH:ubiquinone oxidoreductase core subunit S8 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1319779 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:20818383|PMID:25741868|PMID:26764160|PMID:28492532|PMID:30094188|PMID:33233646|PMID:35551192 8721742 Ndufs8 NADH:ubiquinone oxidoreductase core subunit S8 gene DOID:0061060 immunodeficiency 90 ISO RGD:1319779 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8721742 Ndufs8 NADH:ubiquinone oxidoreductase core subunit S8 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1319779 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:20818383|PMID:24595071|PMID:25741868|PMID:26764160|PMID:28492532|PMID:30094188|PMID:33233646|PMID:35551192 8721742 Ndufs8 NADH:ubiquinone oxidoreductase core subunit S8 gene DOID:0112083 nuclear type mitochondrial complex I deficiency 2 ISO RGD:1319779 D RGD:7240710 20190315 OMIM 8721742 Ndufs8 NADH:ubiquinone oxidoreductase core subunit S8 gene DOID:0112083 nuclear type mitochondrial complex I deficiency 2 ISO RGD:1319779 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2 | ClinVar Annotator: match by term: NDUFS8-related condition PMID:15159508|PMID:20818383|PMID:22499348|PMID:23430795|PMID:25741868|PMID:26764160|PMID:28492532|PMID:30094188|PMID:32445240|PMID:33233646|PMID:34052969|PMID:35551192|PMID:9837812 8721742 Ndufs8 NADH:ubiquinone oxidoreductase core subunit S8 gene DOID:1059 intellectual disability ISO RGD:1319779 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8721742 Ndufs8 NADH:ubiquinone oxidoreductase core subunit S8 gene DOID:13533 osteopetrosis ISO RGD:1319779 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Osteopetrosis PMID:25741868 8721742 Ndufs8 NADH:ubiquinone oxidoreductase core subunit S8 gene DOID:3652 Leigh disease ISO RGD:1319779 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:20818383|PMID:24595071|PMID:25326637|PMID:25741868|PMID:26764160|PMID:28492532|PMID:30094188|PMID:33233646|PMID:35551192|PMID:9837812 8721742 Ndufs8 NADH:ubiquinone oxidoreductase core subunit S8 gene DOID:630 genetic disease ISO RGD:1319779 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20818383|PMID:23430795|PMID:25741868|PMID:26764160|PMID:28492532|PMID:30094188|PMID:32445240|PMID:33233646|PMID:35551192 8721742 Ndufs8 NADH:ubiquinone oxidoreductase core subunit S8 gene DOID:8398 osteoarthritis ISO RGD:1319779 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 8721742 Ndufs8 NADH:ubiquinone oxidoreductase core subunit S8 gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1319779 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:20818383|PMID:25741868|PMID:26764160|PMID:28492532|PMID:30094188|PMID:33233646|PMID:35551192|PMID:9837812 8721742 Ndufs8 NADH:ubiquinone oxidoreductase core subunit S8 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1319779 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8721772 Mb21d2 Mab-21 domain containing 2 gene DOID:5419 schizophrenia ISO RGD:1601820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8721787 Cmya5 cardiomyopathy associated 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8721822 Trim11 tripartite motif containing 11 gene DOID:1540 parathyroid carcinoma ISO RGD:1313482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8721822 Trim11 tripartite motif containing 11 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8721834 Galk1 galactokinase 1 gene DOID:0050797 peroxisomal acyl-CoA oxidase deficiency ISO RGD:1313365 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: STRAIGHT-CHAIN ACYL-CoA OXIDASE DEFICIENCY PMID:28492532 8721834 Galk1 galactokinase 1 gene DOID:0060733 junctional epidermolysis bullosa with pyloric atresia ISO RGD:1313365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia PMID:10484780|PMID:11328943|PMID:11886501|PMID:12485428|PMID:18955862|PMID:20301304|PMID:23496044|PMID:25741868|PMID:28492532|PMID:9792864|PMID:9892956 8721834 Galk1 galactokinase 1 gene DOID:0060733 junctional epidermolysis bullosa with pyloric atresia ISO RGD:1313365 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: ITGB4-related condition | ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia PMID:10484780|PMID:11328943|PMID:11886501|PMID:12485428|PMID:16199547|PMID:16473856|PMID:17576681|PMID:18955862|PMID:20301304|PMID:22674212|PMID:23496044|PMID:25741868|PMID:28492532|PMID:33274474|PMID:9536098|PMID:9792864|PMID:9892956 8721834 Galk1 galactokinase 1 gene DOID:0060738 junctional epidermolysis bullosa non-Herlitz type ISO RGD:1313365 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type PMID:25741868|PMID:28492532 8721834 Galk1 galactokinase 1 gene DOID:0080600 COVID-19 ISO RGD:1313365 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8721834 Galk1 galactokinase 1 gene DOID:14695 galactokinase deficiency ISO RGD:1313365 D RGD:7240710 20180130 OMIM 8721834 Galk1 galactokinase 1 gene DOID:14695 galactokinase deficiency ISO RGD:1313365 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Deficiency of galactokinase | ClinVar Annotator: match by term: GALK1-related condition | ClinVar Annotator: match by term: Galactokinase deficiency with cataracts PMID:10521295|PMID:10570908|PMID:10790206|PMID:11139256|PMID:11231902|PMID:11328943|PMID:11978883|PMID:11978884|PMID:12647253|PMID:12694189|PMID:12796487|PMID:12942049|PMID:14596685|PMID:15024738|PMID:15322984|PMID:15590630|PMID:16199547|PMID:16473856|PMID:17517531|PMID:17576681|PMID:19309526|PMID:20405025|PMID:21264483|PMID:21290184|PMID:22632133|PMID:23496044|PMID:25741868|PMID:27307692|PMID:27334249|PMID:28173647|PMID:28418495|PMID:28429145|PMID:28468868|PMID:28492532|PMID:28672748|PMID:29505688|PMID:29770612|PMID:29893426|PMID:32807972|PMID:33562227|PMID:33763395|PMID:7670469|PMID:9536098 8721834 Galk1 galactokinase 1 gene DOID:3209 junctional epidermolysis bullosa ISO RGD:1313365 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa PMID:11886501|PMID:25741868|PMID:9792864 8721834 Galk1 galactokinase 1 gene DOID:630 genetic disease ISO RGD:1313365 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 8721834 Galk1 galactokinase 1 gene DOID:83 cataract ISO RGD:1313365 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7670469 8721834 Galk1 galactokinase 1 gene DOID:83 cataract ISO RGD:1313365 D RGD:9068941 20200609 RGD DNA:missense mutation, nonsense mutation:cds:p.V32M, p.E80X (human) PMID:7670469|REF_RGD_ID:1300192 8721834 Galk1 galactokinase 1 gene DOID:9002684 Localized Epidermolysis Bullosa Simplex 1C ISO RGD:1313365 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1C, localized PMID:25741868|PMID:28492532 8721834 Galk1 galactokinase 1 gene DOID:9003431 Junctional Epidermolysis Bullosa 5A, Intermediate ISO RGD:1313365 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, NON-HERLITZ TYPE | ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 5A, intermediate PMID:11328943|PMID:12485428|PMID:16199547|PMID:16473856|PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098|PMID:9546354|PMID:9892956 8721834 Galk1 galactokinase 1 gene DOID:9870 galactosemia ISO RGD:1313365 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Hereditary galactokinase deficiency PMID:10790206|PMID:11231902|PMID:12694189|PMID:12942049|PMID:14596685|PMID:16199547|PMID:19309526|PMID:21264483|PMID:21290184|PMID:22632133|PMID:25741868|PMID:27334249|PMID:28492532|PMID:29893426|PMID:32807972|PMID:33562227|PMID:33763395|PMID:7670469 8721859 Stkld1 serine/threonine kinase like domain containing 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1316505 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 8721859 Stkld1 serine/threonine kinase like domain containing 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1316505 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8721859 Stkld1 serine/threonine kinase like domain containing 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1316505 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 8721859 Stkld1 serine/threonine kinase like domain containing 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1316505 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 8721859 Stkld1 serine/threonine kinase like domain containing 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1316505 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 8721859 Stkld1 serine/threonine kinase like domain containing 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1316505 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 8721859 Stkld1 serine/threonine kinase like domain containing 1 gene DOID:3652 Leigh disease ISO RGD:1316505 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 8721913 Far2 fatty acyl-CoA reductase 2 gene DOID:10140 dry eye syndrome ISO RGD:1556953 D RGD:9068941 20221103 MouseDO 8721913 Far2 fatty acyl-CoA reductase 2 gene DOID:987 alopecia ISO RGD:1556953 D RGD:9068941 20220825 MouseDO OMIM:300042 8721968 Mrgprd MAS related GPR family member D gene DOID:0061060 immunodeficiency 90 ISO RGD:1344076 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8721968 Mrgprd MAS related GPR family member D gene DOID:1059 intellectual disability ISO RGD:1344076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8721968 Mrgprd MAS related GPR family member D gene DOID:12930 dilated cardiomyopathy ISO RGD:1553636 D RGD:9068941 20220825 MouseDO 8721968 Mrgprd MAS related GPR family member D gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1344076 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8721971 Lgals8 galectin 8 gene DOID:1540 parathyroid carcinoma ISO RGD:1354427 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8721971 Lgals8 galectin 8 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1354427 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:11857544|PMID:28492532|PMID:9215679 8721971 Lgals8 galectin 8 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1354427 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8722001 Chsy1 chondroitin sulfate synthase 1 gene DOID:0050814 temtamy preaxial brachydactyly syndrome ISO RGD:1323606 D RGD:7240710 20180130 OMIM 8722001 Chsy1 chondroitin sulfate synthase 1 gene DOID:0050814 temtamy preaxial brachydactyly syndrome ISO RGD:1323606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CHSY1-related condition | ClinVar Annotator: match by term: Temtamy preaxial brachydactyly syndrome PMID:19952732|PMID:21129727|PMID:21129728|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9823490 8722001 Chsy1 chondroitin sulfate synthase 1 gene DOID:0060397 chromosome 15q26-qter deletion syndrome ISO RGD:1323606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome PMID:31690835 8722001 Chsy1 chondroitin sulfate synthase 1 gene DOID:630 genetic disease ISO RGD:1323606 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21129728|PMID:25741868|PMID:26467025|PMID:28492532 8722001 Chsy1 chondroitin sulfate synthase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1323606 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8722001 Chsy1 chondroitin sulfate synthase 1 gene DOID:9004538 Hearing Loss ISO RGD:1323606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:30872814 8722047 Tlx3 T cell leukemia homeobox 3 gene DOID:0060731 congenital central hypoventilation syndrome ISO RGD:1615148 D RGD:9068941 20220825 MouseDO OMIM:209880 8722047 Tlx3 T cell leukemia homeobox 3 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1353737 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 8722068 Snrpn small nuclear ribonucleoprotein polypeptide N gene DOID:0060041 autism spectrum disorder ISO RGD:1343749 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder | ClinVar Annotator: match by term: Familial Autism Spectrum Disorder PMID:21844811|PMID:23044707|PMID:23495136|PMID:25741868|PMID:27569545|PMID:28492532 8722068 Snrpn small nuclear ribonucleoprotein polypeptide N gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1343749 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:25741868|PMID:31690835 8722068 Snrpn small nuclear ribonucleoprotein polypeptide N gene DOID:11983 Prader-Willi syndrome ISO RGD:1343749 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prader-Willi syndrome PMID:28631899 8722068 Snrpn small nuclear ribonucleoprotein polypeptide N gene DOID:11983 Prader-Willi syndrome susceptibility ISO RGD:1343749 D RGD:9068941 20200609 RGD DNA:deletion PMID:8723064|REF_RGD_ID:1601354 8722068 Snrpn small nuclear ribonucleoprotein polypeptide N gene DOID:12849 autistic disorder ISO RGD:1343749 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:25741868|PMID:30208311|PMID:31690835 8722068 Snrpn small nuclear ribonucleoprotein polypeptide N gene DOID:1932 Angelman syndrome ISO RGD:1343749 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Angelman syndrome PMID:12210318|PMID:18821858|PMID:22190369|PMID:23495136|PMID:24088041|PMID:25099823|PMID:25212744|PMID:25741868|PMID:25884337|PMID:26633545|PMID:28492532|PMID:38177409 8722068 Snrpn small nuclear ribonucleoprotein polypeptide N gene DOID:5419 schizophrenia ISO RGD:1343749 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8722068 Snrpn small nuclear ribonucleoprotein polypeptide N gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343749 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8722088 Ccdc178 coiled-coil domain containing 178 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1317773 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:31690835 8722088 Ccdc178 coiled-coil domain containing 178 gene DOID:1059 intellectual disability ISO RGD:1317773 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8722159 Enkd1 enkurin domain containing 1 gene DOID:0060401 chromosome 16q22 deletion syndrome ISO RGD:1353138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome PMID:25741868 8722159 Enkd1 enkurin domain containing 1 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1353138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8722159 Enkd1 enkurin domain containing 1 gene DOID:9008870 Chromosome 16q12 Duplication Syndrome ISO RGD:1353138 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome PMID:25741868 8722193 Dst dystonin gene DOID:0050548 hereditary sensory neuropathy ISO RGD:1315255 D RGD:9068941 20220825 MouseDO 8722193 Dst dystonin gene DOID:0050700 cardiomyopathy ISO RGD:1605439 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiomyopathy 8722193 Dst dystonin gene DOID:0060041 autism spectrum disorder ISO RGD:1605439 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 8722193 Dst dystonin gene DOID:0070151 hereditary sensory and autonomic neuropathy type 6 ISO RGD:1605439 D RGD:7240710 20180130 OMIM 8722193 Dst dystonin gene DOID:0070151 hereditary sensory and autonomic neuropathy type 6 ISO RGD:1605439 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 6 | ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type VI PMID:16199547|PMID:17576681|PMID:20164846|PMID:22113475|PMID:22522446|PMID:24033266|PMID:25059916|PMID:25741868|PMID:25790160|PMID:28468842|PMID:28492532|PMID:28558912|PMID:28767192|PMID:30371979|PMID:31474762|PMID:31980526|PMID:32802955|PMID:33471381|PMID:9536098 8722193 Dst dystonin gene DOID:10485 esophageal atresia ISO RGD:1605439 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia 8722193 Dst dystonin gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1605439 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:28492532 8722193 Dst dystonin gene DOID:12377 spinal muscular atrophy ISO RGD:1605439 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy PMID:16199547|PMID:25059916|PMID:28492532 8722193 Dst dystonin gene DOID:2377 multiple sclerosis ISO RGD:1605439 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Multiple sclerosis PMID:25741868|PMID:25790160|PMID:28492532 8722193 Dst dystonin gene DOID:630 genetic disease ISO RGD:1605439 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17576681|PMID:17849487|PMID:22522446|PMID:23056405|PMID:25059916|PMID:25741868|PMID:25790160|PMID:27698030|PMID:28492532|PMID:30371979|PMID:30949922|PMID:31474762|PMID:32802955|PMID:7670468|PMID:9536098 8722193 Dst dystonin gene DOID:9001248 Epidermolysis Bullosa Simplex 3, Localized or Generalized Intermediate, with BP230 Deficiency ISO RGD:1605439 D RGD:7240710 20180130 OMIM 8722193 Dst dystonin gene DOID:9001248 Epidermolysis Bullosa Simplex 3, Localized or Generalized Intermediate, with BP230 Deficiency ISO RGD:1605439 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: DST-related condition | ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX 3, LOCALIZED OR GENERALIZED INTERMEDIATE, WITH BP230 DEFICIENCY | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency | ClinVar Annotator: match by term: Epidermolysis bullosa simplex, autosomal recessive 2 PMID:17576681|PMID:20164846|PMID:22113475|PMID:22522446|PMID:24033266|PMID:25059916|PMID:25741868|PMID:25790160|PMID:28492532|PMID:30371979|PMID:31474762|PMID:33471381|PMID:9536098 8722193 Dst dystonin gene DOID:9006519 Generalized Epidermolysis Bullosa Simplex 1D ISO RGD:1605439 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8722318 Slc25a10 solute carrier family 25 member 10 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1350550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:25741868|PMID:29211846 8722318 Slc25a10 solute carrier family 25 member 10 gene DOID:0070450 mitochondrial DNA depletion syndrome 19 ISO RGD:1350550 D RGD:7240710 20200812 OMIM 8722318 Slc25a10 solute carrier family 25 member 10 gene DOID:0070450 mitochondrial DNA depletion syndrome 19 ISO RGD:1350550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 19 | ClinVar Annotator: match by term: SLC25A10-related condition PMID:25741868|PMID:29211846 8722318 Slc25a10 solute carrier family 25 member 10 gene DOID:305 carcinoma ISO RGD:1350550 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8722318 Slc25a10 solute carrier family 25 member 10 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1350550 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8722318 Slc25a10 solute carrier family 25 member 10 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1350550 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8722343 Wdr12 WD repeat domain 12 gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1353160 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 8722343 Wdr12 WD repeat domain 12 gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:1353160 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 8722343 Wdr12 WD repeat domain 12 gene DOID:12930 dilated cardiomyopathy ISO RGD:1353160 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25915632 8722343 Wdr12 WD repeat domain 12 gene DOID:14557 primary pulmonary hypertension ISO RGD:1353160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 8722343 Wdr12 WD repeat domain 12 gene DOID:3393 coronary artery disease ISO RGD:1353160 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21378990 8722343 Wdr12 WD repeat domain 12 gene DOID:5844 myocardial infarction ISO RGD:1353160 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19198609|PMID:25915632 8722343 Wdr12 WD repeat domain 12 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1353160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 8722343 Wdr12 WD repeat domain 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8722343 Wdr12 WD repeat domain 12 gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:1353160 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 8722367 Lrrc74a leucine rich repeat containing 74A gene DOID:1059 intellectual disability ISO RGD:1351641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 8722402 Prkag3 protein kinase AMP-activated non-catalytic subunit gamma 3 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1318621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 8722402 Prkag3 protein kinase AMP-activated non-catalytic subunit gamma 3 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1318621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 8722402 Prkag3 protein kinase AMP-activated non-catalytic subunit gamma 3 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1318621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 8722402 Prkag3 protein kinase AMP-activated non-catalytic subunit gamma 3 gene DOID:2978 carbohydrate metabolic disorder ISO RGD:1318621 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10818001|PMID:17878938 8722402 Prkag3 protein kinase AMP-activated non-catalytic subunit gamma 3 gene DOID:3146 lipid metabolism disorder ISO RGD:1318621 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17878938 8722402 Prkag3 protein kinase AMP-activated non-catalytic subunit gamma 3 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1318621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cholestanol storage disease PMID:10775536|PMID:26937392|PMID:28492532|PMID:9392430 8722402 Prkag3 protein kinase AMP-activated non-catalytic subunit gamma 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8722430 Nrg1 neuregulin 1 gene DOID:0050742 nicotine dependence sexual_dimorphism ISO RGD:731515 D RGD:9068941 20240328 RGD in female;DNA:SNP: :rs6994992(human) PMID:27353026|REF_RGD_ID:405100235 8722430 Nrg1 neuregulin 1 gene DOID:0050848 obstructive sleep apnea susceptibility ISO RGD:731515 D RGD:9068941 20240328 RGD DNA:SNP: :rs10097555(human) PMID:25325441|REF_RGD_ID:405100236 8722430 Nrg1 neuregulin 1 gene DOID:0070082 schizophrenia 6 ISO RGD:731515 D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: NRG1-related condition | ClinVar Annotator: match by term: Schizophrenia 6 PMID:25741868|PMID:28492532 8722430 Nrg1 neuregulin 1 gene DOID:0070082 schizophrenia 6 susceptibility ISO RGD:731515 D RGD:7240710 20230505 OMIM 8722430 Nrg1 neuregulin 1 gene DOID:0070355 overactive bladder syndrome treatment ISO RGD:621341 D RGD:9068941 20200609 RGD PMID:24152577|REF_RGD_ID:10449030 8722430 Nrg1 neuregulin 1 gene DOID:0080600 COVID-19 ISO RGD:731515 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8722430 Nrg1 neuregulin 1 gene DOID:0110148 Charcot-Marie-Tooth disease type 1A ISO RGD:735609 D RGD:9068941 20240502 RGD PMID:30931926|REF_RGD_ID:405650604 8722430 Nrg1 neuregulin 1 gene DOID:10376 amblyopia ISO RGD:621341 D RGD:9068941 20240411 RGD protein:decreased expression:visual cortex PMID:34273906|REF_RGD_ID:405649729 8722430 Nrg1 neuregulin 1 gene DOID:10487 Hirschsprung's disease ISO RGD:731515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22974608 8722430 Nrg1 neuregulin 1 gene DOID:10595 Charcot-Marie-Tooth disease treatment ISO RGD:731515 D RGD:9068941 20200609 RGD PMID:25150498|REF_RGD_ID:10449027 8722430 Nrg1 neuregulin 1 gene DOID:10652 Alzheimer's disease ISO RGD:621341 D RGD:9068941 20240418 RGD PMID:27558862|REF_RGD_ID:405650194 8722430 Nrg1 neuregulin 1 gene DOID:10652 Alzheimer's disease ISO RGD:731515 D RGD:9068941 20200609 RGD PMID:12528817|REF_RGD_ID:10449002 8722430 Nrg1 neuregulin 1 gene DOID:10652 Alzheimer's disease ISO RGD:731515 D RGD:9068941 20240427 RGD protein:decreased expression:hippocampus PMID:29914798|REF_RGD_ID:13703135 8722430 Nrg1 neuregulin 1 gene DOID:10652 Alzheimer's disease ISO RGD:735609 D RGD:9068941 20200609 RGD PMID:12528817|REF_RGD_ID:10449002 8722430 Nrg1 neuregulin 1 gene DOID:10652 Alzheimer's disease disease_progression ISO RGD:731515 D RGD:9068941 20210212 RGD PMID:29295823|REF_RGD_ID:41404730 8722430 Nrg1 neuregulin 1 gene DOID:10808 gastric ulcer ISO RGD:731515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16357062 8722430 Nrg1 neuregulin 1 gene DOID:11446 sciatic neuropathy treatment ISO RGD:621341 D RGD:9068941 20200609 RGD PMID:20957456|REF_RGD_ID:10449012 8722430 Nrg1 neuregulin 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:731515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8722430 Nrg1 neuregulin 1 gene DOID:1307 dementia treatment ISO RGD:731515 D RGD:9068941 20200609 RGD PMID:21473886|REF_RGD_ID:10054040 8722430 Nrg1 neuregulin 1 gene DOID:13949 interstitial cystitis disease_progression ISO RGD:621341 D RGD:9068941 20240411 RGD PMID:30989724|REF_RGD_ID:405295490 8722430 Nrg1 neuregulin 1 gene DOID:14069 cerebral malaria ISO RGD:735609 D RGD:9068941 20201001 RGD mRNA, protein:increased expression:cerebral cortex (mouse) PMID:29636063|REF_RGD_ID:39456084 8722430 Nrg1 neuregulin 1 gene DOID:14069 cerebral malaria treatment ISO RGD:731515 D RGD:9068941 20201002 RGD human protein in a mouse model PMID:24433482|REF_RGD_ID:39456102 8722430 Nrg1 neuregulin 1 gene DOID:1470 major depressive disorder ISO RGD:731515 D RGD:9068941 20210212 RGD mRNA:increased expression:prefrontal cortex PMID:29295823|REF_RGD_ID:41404730 8722430 Nrg1 neuregulin 1 gene DOID:1574 alcohol use disorder sexual_dimorphism ISO RGD:731515 D RGD:9068941 20240328 RGD in female, associated with stressful life event;DNA:SNP: :rs6994992(human) PMID:27353026|REF_RGD_ID:405100235 8722430 Nrg1 neuregulin 1 gene DOID:1824 status epilepticus ISO RGD:621341 D RGD:9068941 20241114 RGD mRNA:increased expression:hippocampus PMID:22158510|REF_RGD_ID:10449024 8722430 Nrg1 neuregulin 1 gene DOID:1826 epilepsy ISO RGD:621341 D RGD:9068941 20240411 RGD protein:increased expression:hippocampus PMID:28350885|REF_RGD_ID:405649727 8722430 Nrg1 neuregulin 1 gene DOID:1849 cannabis dependence susceptibility ISO RGD:731515 D RGD:9068941 20240404 RGD DNA:SNP: :rs17664708(human) PMID:22520967|REF_RGD_ID:405115756 8722430 Nrg1 neuregulin 1 gene DOID:224 transient cerebral ischemia ameliorates ISO RGD:731515 D RGD:9068941 20240427 RGD PMID:30206770|REF_RGD_ID:405650589 8722430 Nrg1 neuregulin 1 gene DOID:224 transient cerebral ischemia treatment ISO RGD:731515 D RGD:9068941 20240411 RGD PMID:31560696|REF_RGD_ID:405649728 8722430 Nrg1 neuregulin 1 gene DOID:2394 ovarian cancer treatment ISO RGD:731515 D RGD:9068941 20201002 RGD mRNA, protein:increased expression:ovary, fallopian tube, peritoneum (human) PMID:27998236|REF_RGD_ID:39456103 8722430 Nrg1 neuregulin 1 gene DOID:2468 psychotic disorder no_association ISO RGD:731515 D RGD:9068941 20200609 RGD associated with Alzheimer Disease;DNA:missense mutation, SNP:cds, enhancer: (rs3924999, rs35753505) (human) PMID:20182055|REF_RGD_ID:10449000 8722430 Nrg1 neuregulin 1 gene DOID:2468 psychotic disorder susceptibility ISO RGD:731515 D RGD:9068941 20200609 RGD associated with Alzheimer's disease;DNA:missense mutation, haplotype:cds: (rs3924999) (human) PMID:16082692|REF_RGD_ID:10449035 8722430 Nrg1 neuregulin 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:731515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 8722430 Nrg1 neuregulin 1 gene DOID:2773 contact dermatitis ISO RGD:731515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 8722430 Nrg1 neuregulin 1 gene DOID:302 substance abuse susceptibility ISO RGD:731515 D RGD:9068941 20240328 RGD associated with stressful life event;DNA:SNP: :rs6994992(human) PMID:27353026|REF_RGD_ID:405100235 8722430 Nrg1 neuregulin 1 gene DOID:3178 skin papilloma ISO RGD:731515 D RGD:9068941 20201001 RGD DNA:hypermethylation: PMID:31892232|REF_RGD_ID:39456089 8722430 Nrg1 neuregulin 1 gene DOID:3213 demyelinating disease ISO RGD:735609 D RGD:9068941 20240502 RGD mRNA:increased expression:sciatic nerve PMID:30931926|REF_RGD_ID:405650604 8722430 Nrg1 neuregulin 1 gene DOID:3312 bipolar disorder ISO RGD:621341 D RGD:9068941 20240504 RGD PMID:34189720|REF_RGD_ID:405650687 8722430 Nrg1 neuregulin 1 gene DOID:3312 bipolar disorder ISO RGD:731515 D RGD:9068941 20201001 RGD DNA:SNP:enhancer: (rs35753505) PMID:18585932|REF_RGD_ID:39131291 8722430 Nrg1 neuregulin 1 gene DOID:332 amyotrophic lateral sclerosis ameliorates ISO RGD:731515 D RGD:9068941 20240411 RGD PMID:32032731|REF_RGD_ID:405295499 8722430 Nrg1 neuregulin 1 gene DOID:3525 middle cerebral artery infarction ameliorates ISO RGD:731515 D RGD:9068941 20240427 RGD PMID:30206770|REF_RGD_ID:405650589 8722430 Nrg1 neuregulin 1 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:731515 D RGD:9068941 20200609 RGD PMID:20691195|REF_RGD_ID:10449015 8722430 Nrg1 neuregulin 1 gene DOID:399 tuberculosis susceptibility ISO RGD:731515 D RGD:9068941 20201001 RGD DNA:SNP, haplotype: (rs16879814) PMID:25919455|REF_RGD_ID:39456091 8722430 Nrg1 neuregulin 1 gene DOID:480 movement disease ISO RGD:731515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22226049 8722430 Nrg1 neuregulin 1 gene DOID:5419 schizophrenia ISO RGD:621341 D RGD:9068941 20210423 RGD protein:increased expression:prefrontal cortex, hippocampus PMID:20467458|REF_RGD_ID:126790484 8722430 Nrg1 neuregulin 1 gene DOID:5419 schizophrenia ISO RGD:731515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12145742|PMID:17333138|PMID:17460065|PMID:17905522|PMID:20561508|PMID:20582876|PMID:20701826 8722430 Nrg1 neuregulin 1 gene DOID:5419 schizophrenia ISO RGD:735609 D RGD:9068941 20220825 MouseDO OMIM:181500 8722430 Nrg1 neuregulin 1 gene DOID:5419 schizophrenia ISO RGD:735609 D RGD:9068941 20240411 RGD PMID:28981869|REF_RGD_ID:405295498 8722430 Nrg1 neuregulin 1 gene DOID:571 median neuropathy ISO RGD:621341 D RGD:9068941 20200609 RGD PMID:19296522|REF_RGD_ID:10449020 8722430 Nrg1 neuregulin 1 gene DOID:5844 myocardial infarction treatment ISO RGD:621341 D RGD:9068941 20240418 RGD PMID:26892146|REF_RGD_ID:11522702 8722430 Nrg1 neuregulin 1 gene DOID:5844 myocardial infarction treatment ISO RGD:731515 D RGD:9068941 20240404 RGD PMID:24200746|PMID:27993643|REF_RGD_ID:10449026|REF_RGD_ID:405145704 8722430 Nrg1 neuregulin 1 gene DOID:6000 congestive heart failure ISO RGD:731515 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19801490 8722430 Nrg1 neuregulin 1 gene DOID:670 amphetamine abuse ISO RGD:731515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 8722430 Nrg1 neuregulin 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:731515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8722430 Nrg1 neuregulin 1 gene DOID:684 hepatocellular carcinoma ISO RGD:731515 D RGD:9068941 20201002 RGD mRNA:increased expression:liver (human) PMID:27514687|REF_RGD_ID:39456110 8722430 Nrg1 neuregulin 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:731515 D RGD:9068941 20201002 RGD associated with hepatitis C;mRNA:altered expression:liver (human PMID:17393520|REF_RGD_ID:39456104 8722430 Nrg1 neuregulin 1 gene DOID:8469 influenza ISO RGD:735609 D RGD:9068941 20201001 RGD neurotropic influenza A in Tap1-/- strain;mRNA (type III):decreased expression:prefrontal cortex (mouse) PMID:19362585|REF_RGD_ID:39456087 8722430 Nrg1 neuregulin 1 gene DOID:870 neuropathy ISO RGD:621341 D RGD:9068941 20240425 RGD mRNA, protein:decreased expression:dorsal root ganglion PMID:24530887|REF_RGD_ID:405650402 8722430 Nrg1 neuregulin 1 gene DOID:9000039 Spinal Cord Injuries ameliorates ISO RGD:621341 D RGD:9068941 20240502 RGD PMID:20734425|REF_RGD_ID:405650600 8722430 Nrg1 neuregulin 1 gene DOID:9000039 Spinal Cord Injuries exacerbates ISO RGD:735609 D RGD:9068941 20240404 RGD PMID:26993800|REF_RGD_ID:11056189 8722430 Nrg1 neuregulin 1 gene DOID:9000438 Subarachnoid Hemorrhage treatment ISO RGD:731515 D RGD:9068941 20220421 RGD PMID:28756200|REF_RGD_ID:151893490 8722430 Nrg1 neuregulin 1 gene DOID:9000469 Viral Myocarditis ISO RGD:735609 D RGD:9068941 20201001 RGD associated with Coxsackievirus Infections;protein:increased expression:heart (mouse) PMID:31396490|REF_RGD_ID:39131284 8722430 Nrg1 neuregulin 1 gene DOID:9000641 Pain ISO RGD:731515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20561508 8722430 Nrg1 neuregulin 1 gene DOID:9001131 stress-related disorder ISO RGD:621341 D RGD:9068941 20240222 RGD PMID:23022220|REF_RGD_ID:39128254 8722430 Nrg1 neuregulin 1 gene DOID:9001131 stress-related disorder ISO RGD:621341 D RGD:9068941 20240425 RGD protein:increased expression:myocardium PMID:27133902|REF_RGD_ID:405650400 8722430 Nrg1 neuregulin 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8722430 Nrg1 neuregulin 1 gene DOID:9002211 Hyperalgesia ISO RGD:621341 D RGD:9068941 20200609 RGD associated with Sciatic Neuropathy PMID:22212401|REF_RGD_ID:10449019 8722430 Nrg1 neuregulin 1 gene DOID:9002211 Hyperalgesia ISO RGD:621341 D RGD:9068941 20240411 RGD associated with interstitial cystitis; PMID:30989724|REF_RGD_ID:405295490 8722430 Nrg1 neuregulin 1 gene DOID:9002371 Cardiotoxicity ISO RGD:731515 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29305325 8722430 Nrg1 neuregulin 1 gene DOID:9002514 Neointima ISO RGD:621341 D RGD:9068941 20200609 RGD PMID:17438359|REF_RGD_ID:2289992 8722430 Nrg1 neuregulin 1 gene DOID:9002955 Nerve Degeneration ISO RGD:621341 D RGD:9068941 20240404 RGD mRNA:decreased expression:median nerve PMID:28059646|REF_RGD_ID:405255649 8722430 Nrg1 neuregulin 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:731515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19617202 8722430 Nrg1 neuregulin 1 gene DOID:9005172 Lung Neoplasms ISO RGD:731515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28604730 8722430 Nrg1 neuregulin 1 gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:621341 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:decreased expresssion:left ventricle myocardium PMID:22285193|REF_RGD_ID:10449013 8722430 Nrg1 neuregulin 1 gene DOID:9006945 Diabetic Cardiomyopathies treatment ISO RGD:621341 D RGD:9068941 20240420 RGD PMID:32828943|REF_RGD_ID:405650202 8722430 Nrg1 neuregulin 1 gene DOID:9007090 Experimental Seizures ISO RGD:621341 D RGD:9068941 20241114 RGD PMID:22158510|REF_RGD_ID:10449024 8722430 Nrg1 neuregulin 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:731515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19617202 8722430 Nrg1 neuregulin 1 gene DOID:9007956 Febrile Seizures ISO RGD:731515 D RGD:9068941 20201002 RGD associated with influenza;mRNA:increased expression:blood (human) PMID:16690933|REF_RGD_ID:39456106 8722430 Nrg1 neuregulin 1 gene DOID:9008939 Breast Neoplasms ISO RGD:731515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19617202 8722430 Nrg1 neuregulin 1 gene DOID:9505 cannabis abuse ISO RGD:731515 D RGD:9068941 20240404 RGD associated with schizophrenia;protein:increased expression:blood: PMID:30799217|REF_RGD_ID:405112241 8722430 Nrg1 neuregulin 1 gene DOID:9743 diabetic neuropathy treatment ISO RGD:621341 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:24288572|REF_RGD_ID:10053667 8722476 Acad11 acyl-CoA dehydrogenase family member 11 gene DOID:0080424 developmental and epileptic encephalopathy 44 ISO RGD:1604580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 44 PMID:25741868 8722476 Acad11 acyl-CoA dehydrogenase family member 11 gene DOID:12712 nephronophthisis ISO RGD:1604580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:28492532 8722476 Acad11 acyl-CoA dehydrogenase family member 11 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1604580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 8722476 Acad11 acyl-CoA dehydrogenase family member 11 gene DOID:9270 alkaptonuria ISO RGD:1604580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 8722505 Cacng4 calcium voltage-gated channel auxiliary subunit gamma 4 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:628804 D RGD:9068941 20200609 RGD mRNA:decreased expression:sinoatrial node: PMID:27096430|REF_RGD_ID:13524560 8722505 Cacng4 calcium voltage-gated channel auxiliary subunit gamma 4 gene DOID:9408 acute myocardial infarction ISO RGD:735495 D RGD:9068941 20200609 RGD mRNA:decreased expression:blood: PMID:27746059|REF_RGD_ID:13524557 8722519 Rc3h1 ring finger and CCCH-type domains 1 gene DOID:0050749 peripheral T-cell lymphoma ISO RGD:1557447 D RGD:9068941 20220825 MouseDO 8722519 Rc3h1 ring finger and CCCH-type domains 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1604740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8722519 Rc3h1 ring finger and CCCH-type domains 1 gene DOID:3755 antithrombin III deficiency ISO RGD:1604740 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Hereditary antithrombin deficiency PMID:10823268|PMID:16956830|PMID:21264449|PMID:24889358|PMID:28492532|PMID:29153735|PMID:3663935 8722519 Rc3h1 ring finger and CCCH-type domains 1 gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1604740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT PMID:22857792|PMID:25451160|PMID:28492532 8722519 Rc3h1 ring finger and CCCH-type domains 1 gene DOID:9004766 Familial Hemophagocytic Lymphohistiocytosis 6 ISO RGD:1604740 D RGD:7240710 20200930 OMIM 8722519 Rc3h1 ring finger and CCCH-type domains 1 gene DOID:9004766 Familial Hemophagocytic Lymphohistiocytosis 6 ISO RGD:1604740 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 6 PMID:25741868 8722519 Rc3h1 ring finger and CCCH-type domains 1 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1604740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:25741868|PMID:26333682 8722519 Rc3h1 ring finger and CCCH-type domains 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:1557447 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 8722519 Rc3h1 ring finger and CCCH-type domains 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8722553 Tmcc1 transmembrane and coiled-coil domain family 1 gene DOID:0111947 immunodeficiency 21 ISO RGD:1349742 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 8722553 Tmcc1 transmembrane and coiled-coil domain family 1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1349742 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 8722553 Tmcc1 transmembrane and coiled-coil domain family 1 gene DOID:9270 alkaptonuria ISO RGD:1349742 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 8722577 Iqgap1 IQ motif containing GTPase activating protein 1 gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1323573 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:17407155|PMID:28492532 8722577 Iqgap1 IQ motif containing GTPase activating protein 1 gene DOID:2717 Bloom syndrome ISO RGD:1323573 D RGD:8554872 20240716 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:17407155|PMID:28492532 8722577 Iqgap1 IQ motif containing GTPase activating protein 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1323573 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20977743 8722577 Iqgap1 IQ motif containing GTPase activating protein 1 gene DOID:9000352 Vascular System Injuries ISO RGD:1311884 D RGD:9068941 20200609 RGD PMID:15217908|REF_RGD_ID:11049588 8722577 Iqgap1 IQ motif containing GTPase activating protein 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1323573 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8722577 Iqgap1 IQ motif containing GTPase activating protein 1 gene DOID:9002514 Neointima ISO RGD:1323574 D RGD:9068941 20200609 RGD associated with Vascular System Injuries PMID:23657573|REF_RGD_ID:11049552 8722577 Iqgap1 IQ motif containing GTPase activating protein 1 gene DOID:9004657 Weight Gain ISO RGD:1323573 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 8722577 Iqgap1 IQ motif containing GTPase activating protein 1 gene DOID:9007502 Brain Neoplasms ISO RGD:1323573 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935819 8722577 Iqgap1 IQ motif containing GTPase activating protein 1 gene DOID:9256 colorectal cancer ISO RGD:1323573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8722648 Ubr4 ubiquitin protein ligase E3 component n-recognin 4 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1350466 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 8722648 Ubr4 ubiquitin protein ligase E3 component n-recognin 4 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1350466 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8722648 Ubr4 ubiquitin protein ligase E3 component n-recognin 4 gene DOID:0070541 3-hydroxy-3-methylglutaryl-CoA lyase deficiency ISO RGD:1350466 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 8722648 Ubr4 ubiquitin protein ligase E3 component n-recognin 4 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1350466 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hyperprolinemia type 2 PMID:28492532 8722648 Ubr4 ubiquitin protein ligase E3 component n-recognin 4 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1350466 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 8722648 Ubr4 ubiquitin protein ligase E3 component n-recognin 4 gene DOID:2843 long QT syndrome ISO RGD:1350466 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 8722648 Ubr4 ubiquitin protein ligase E3 component n-recognin 4 gene DOID:5426 primary ovarian insufficiency ISO RGD:1350466 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 8722648 Ubr4 ubiquitin protein ligase E3 component n-recognin 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350466 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8722648 Ubr4 ubiquitin protein ligase E3 component n-recognin 4 gene DOID:9007661 Dwarfism ISO RGD:1350466 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 8722648 Ubr4 ubiquitin protein ligase E3 component n-recognin 4 gene DOID:9008582 Developmental Disease ISO RGD:1350466 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8722766 Tcl1a TCL1 family AKT coactivator A gene DOID:0080600 COVID-19 ISO RGD:1318064 D RGD:9068941 20200709 RGD mRNA:decreased expression:memory B cells (human) PMID:32377375|REF_RGD_ID:32716422 8722766 Tcl1a TCL1 family AKT coactivator A gene DOID:13276 Mycoplasma pneumoniae pneumonia severity ISO RGD:1318064 D RGD:9068941 20200626 RGD PMID:28302172|REF_RGD_ID:32716376 8722766 Tcl1a TCL1 family AKT coactivator A gene DOID:2224 essential thrombocythemia ISO RGD:1318064 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocythemia 1 8722766 Tcl1a TCL1 family AKT coactivator A gene DOID:4971 myelofibrosis ISO RGD:1318064 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary myelofibrosis 8722766 Tcl1a TCL1 family AKT coactivator A gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1318064 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral blood lymphocyte (human) PMID:10077617|REF_RGD_ID:1599360 8722766 Tcl1a TCL1 family AKT coactivator A gene DOID:9004189 T-Cell Lymphoma 1A ISO RGD:1318064 D RGD:7240710 20221123 OMIM 8722766 Tcl1a TCL1 family AKT coactivator A gene DOID:9119 acute myeloid leukemia ISO RGD:1318064 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8722772 Aldh1l2 aldehyde dehydrogenase 1 family member L2 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:1551620 D RGD:9068941 20220825 MouseDO OMIM:613282 | OMIM:613387 8722772 Aldh1l2 aldehyde dehydrogenase 1 family member L2 gene DOID:0080600 COVID-19 ISO RGD:1345617 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8722772 Aldh1l2 aldehyde dehydrogenase 1 family member L2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1345617 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8722772 Aldh1l2 aldehyde dehydrogenase 1 family member L2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345617 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:38193334 8722772 Aldh1l2 aldehyde dehydrogenase 1 family member L2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1345617 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 8722799 Hagh hydroxyacylglutathione hydrolase gene DOID:0080325 tuberous sclerosis 2 ISO RGD:736814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:20498439|PMID:28492532|PMID:29932062 8722799 Hagh hydroxyacylglutathione hydrolase gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:736814 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:28492532|PMID:30866059 8722799 Hagh hydroxyacylglutathione hydrolase gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:736814 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8722799 Hagh hydroxyacylglutathione hydrolase gene DOID:1826 epilepsy ISO RGD:736814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8722799 Hagh hydroxyacylglutathione hydrolase gene DOID:9000559 Glyoxalase II Deficiency ISO RGD:736814 D RGD:7240710 20210317 OMIM 8722799 Hagh hydroxyacylglutathione hydrolase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736814 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8722799 Hagh hydroxyacylglutathione hydrolase gene DOID:9009315 Idiopathic Generalized Epilepsy ISO RGD:736814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8722816 Shc3 SHC adaptor protein 3 gene DOID:9005834 Ependymomas ISO RGD:737159 D RGD:9068941 20200609 RGD DNA:amplification:brain: PMID:19748727|REF_RGD_ID:13782069 8722832 Eloa elongin A gene DOID:0070541 3-hydroxy-3-methylglutaryl-CoA lyase deficiency ISO RGD:736026 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 8722832 Eloa elongin A gene DOID:1339 Diamond-Blackfan anemia ISO RGD:736026 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:19061985|PMID:19773262|PMID:22689679|PMID:28492532 8722860 Atp5mj ATP synthase membrane subunit j gene DOID:0061101 immunodeficiency 132A ISO RGD:1352128 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 PMID:28492532 8722860 Atp5mj ATP synthase membrane subunit j gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1352128 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 8722880 Armcx5 armadillo repeat containing X-linked 5 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350791 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8722880 Armcx5 armadillo repeat containing X-linked 5 gene DOID:0111823 autosomal hemophilia A ISO RGD:1350791 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A PMID:31690835 8722880 Armcx5 armadillo repeat containing X-linked 5 gene DOID:12134 factor VIII deficiency ISO RGD:1350791 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Factor 8 deficiency, congenital PMID:31690835 8722880 Armcx5 armadillo repeat containing X-linked 5 gene DOID:12849 autistic disorder ISO RGD:1350791 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8722909 Arpc3 actin related protein 2/3 complex subunit 3 gene DOID:14330 Parkinson's disease treatment ISO RGD:1311985 D RGD:9068941 20200609 RGD PMID:20713051|REF_RGD_ID:11049454 8722909 Arpc3 actin related protein 2/3 complex subunit 3 gene DOID:9351 diabetes mellitus ISO RGD:1323728 D RGD:9068941 20200609 RGD associated with Obesity, Morbid;mRNA:decreased expression:omentum, adipose tissue (human) PMID:26504501|REF_RGD_ID:11049459 8722938 Cntn4 contactin 4 gene DOID:0060041 autism spectrum disorder ISO RGD:1349263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 8722938 Cntn4 contactin 4 gene DOID:12849 autistic disorder ISO RGD:1349263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:18349135|PMID:18551756|PMID:21681106|PMID:30208311 8722938 Cntn4 contactin 4 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1349263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lip and oral cavity carcinoma PMID:28595731 8722938 Cntn4 contactin 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8722938 Cntn4 contactin 4 gene DOID:9006257 Growth Disorders ISO RGD:1349263 D RGD:9068941 20240912 CTD CTD Direct Evidence: marker/mechanism PMID:15106122 8722938 Cntn4 contactin 4 gene DOID:9008086 Developmental Disabilities ISO RGD:1349263 D RGD:9068941 20240912 CTD CTD Direct Evidence: marker/mechanism PMID:15106122 8722938 Cntn4 contactin 4 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1349263 D RGD:9068941 20240912 CTD CTD Direct Evidence: marker/mechanism PMID:15106122 8723012 Stk32c serine/threonine kinase 32C gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1314150 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 8723060 Rtp3 receptor transporter protein 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1353966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17693185 8723060 Rtp3 receptor transporter protein 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1353966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8723060 Rtp3 receptor transporter protein 3 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1353966 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 8723060 Rtp3 receptor transporter protein 3 gene DOID:9007188 Liver Neoplasms ISO RGD:1353966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17693185 8723112 Dse dermatan sulfate epimerase gene DOID:0060163 body dysmorphic disorder ISO RGD:1312897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 8723112 Dse dermatan sulfate epimerase gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1312897 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 8723112 Dse dermatan sulfate epimerase gene DOID:0080737 Ehlers-Danlos syndrome musculocontractural type 2 ISO RGD:1312897 D RGD:7240710 20180130 OMIM 8723112 Dse dermatan sulfate epimerase gene DOID:0080737 Ehlers-Danlos syndrome musculocontractural type 2 ISO RGD:1312897 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: DSE-related condition | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, musculocontractural type 2 PMID:17576681|PMID:23704329|PMID:25703627|PMID:25741868|PMID:28492532|PMID:9536098 8723112 Dse dermatan sulfate epimerase gene DOID:1059 intellectual disability ISO RGD:1312897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 8723112 Dse dermatan sulfate epimerase gene DOID:10907 microcephaly ISO RGD:1312897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 8723112 Dse dermatan sulfate epimerase gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:1312897 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:25741868|PMID:28492532 8723112 Dse dermatan sulfate epimerase gene DOID:630 genetic disease ISO RGD:1312897 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8723112 Dse dermatan sulfate epimerase gene DOID:9000495 Tremor ISO RGD:1312897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 8723112 Dse dermatan sulfate epimerase gene DOID:9000938 Sudden Infant Death with Dysgenesis of the Testes Syndrome ISO RGD:1312897 D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: Sudden infant death with dysgenesis of the testes syndrome | ClinVar Annotator: match by term: TSPYL1-related condition PMID:15273283|PMID:25741868|PMID:28492532 8723135 Garem2 GRB2 associated regulator of MAPK1 subtype 2 gene DOID:0070619 mitochondrial trifunctional protein deficiency 1 ISO RGD:1603263 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Mitochondrial trifunctional protein deficiency 1 PMID:11855930|PMID:12442268|PMID:12971428|PMID:21103935|PMID:21549624|PMID:22459206|PMID:25741868|PMID:26109258|PMID:27491397|PMID:28492532|PMID:29519241|PMID:31589614|PMID:31980526|PMID:32778825|PMID:34878152|PMID:7738175|PMID:8865274 8723135 Garem2 GRB2 associated regulator of MAPK1 subtype 2 gene DOID:0111277 mitochondrial trifunctional protein deficiency ISO RGD:1603263 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Mitochondrial trifunctional protein deficiency PMID:10234607|PMID:10352164|PMID:10518281|PMID:11773547|PMID:11855930|PMID:12237653|PMID:12442268|PMID:12971428|PMID:14630990|PMID:15902556|PMID:16199547|PMID:17143551|PMID:17576681|PMID:18408953|PMID:19852779|PMID:20583174|PMID:20814823|PMID:21103935|PMID:21549624|PMID:22459206|PMID:23430857|PMID:23868323|PMID:24033266|PMID:24305961|PMID:25741868|PMID:25888220|PMID:26024122|PMID:26109258|PMID:26653362|PMID:27014569|PMID:27117294|PMID:27491397|PMID:28492532|PMID:28559085|PMID:29124685|PMID:29519241|PMID:30626930|PMID:31589614|PMID:31980526|PMID:32778825|PMID:32827528|PMID:32860008|PMID:34878152|PMID:7738175|PMID:7811722|PMID:7846063|PMID:8739956|PMID:8770876|PMID:8865274|PMID:9003853|PMID:9266371|PMID:9536098 8723135 Garem2 GRB2 associated regulator of MAPK1 subtype 2 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1603263 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome PMID:28492532 8723135 Garem2 GRB2 associated regulator of MAPK1 subtype 2 gene DOID:630 genetic disease ISO RGD:1603263 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10352164|PMID:10518281|PMID:11773547|PMID:14630990|PMID:15902556|PMID:18408953|PMID:19852779|PMID:20583174|PMID:20814823|PMID:21103935|PMID:21549624|PMID:23430857|PMID:23868323|PMID:24033266|PMID:25741868|PMID:25888220|PMID:26024122|PMID:26109258|PMID:26653362|PMID:27117294|PMID:27491397|PMID:28492532|PMID:7811722|PMID:7846063|PMID:8739956|PMID:8770876|PMID:9003853|PMID:9266371 8723135 Garem2 GRB2 associated regulator of MAPK1 subtype 2 gene DOID:9002882 Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency ISO RGD:1603263 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: HADHA-related disorder | ClinVar Annotator: match by term: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency PMID:10234607|PMID:10352164|PMID:10518281|PMID:11773547|PMID:11855930|PMID:12237653|PMID:12442268|PMID:12971428|PMID:14630990|PMID:15902556|PMID:16199547|PMID:17143551|PMID:17576681|PMID:18408953|PMID:19852779|PMID:20583174|PMID:20814823|PMID:21103935|PMID:21549624|PMID:22030098|PMID:22459206|PMID:23430857|PMID:23868323|PMID:24033266|PMID:24305961|PMID:25741868|PMID:25888220|PMID:26024122|PMID:26109258|PMID:26653362|PMID:27014569|PMID:27117294|PMID:27491397|PMID:28492532|PMID:28559085|PMID:29124685|PMID:29519241|PMID:30626930|PMID:30934865|PMID:31589614|PMID:31980526|PMID:32778825|PMID:32827528|PMID:33638202|PMID:3487815|PMID:34878152|PMID:35433174|PMID:7738175|PMID:7811722|PMID:7846063|PMID:8739956|PMID:8770876|PMID:8865274|PMID:9003853|PMID:9266371|PMID:9536098 8723146 Vash1 vasohibin 1 gene DOID:1059 intellectual disability ISO RGD:1352548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 8723146 Vash1 vasohibin 1 gene DOID:10762 portal hypertension disease_progression ISO RGD:1564082 D RGD:9068941 20200609 RGD PMID:24390792|REF_RGD_ID:15003198 8723146 Vash1 vasohibin 1 gene DOID:10762 portal hypertension treatment ISO RGD:1352548 D RGD:9068941 20200609 RGD PMID:24390792|REF_RGD_ID:15003198 8723146 Vash1 vasohibin 1 gene DOID:5082 liver cirrhosis ISO RGD:1352548 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic; protein:increased expression:liver PMID:24390792|REF_RGD_ID:15003198 8723146 Vash1 vasohibin 1 gene DOID:5082 liver cirrhosis treatment ISO RGD:1352548 D RGD:9068941 20200609 RGD PMID:24390792|REF_RGD_ID:15003198 8723191 Prr5l proline rich 5 like gene DOID:1059 intellectual disability ISO RGD:1605618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8723234 Tmem183a transmembrane protein 183A gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1320480 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 8723234 Tmem183a transmembrane protein 183A gene DOID:10283 prostate cancer ISO RGD:1320480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8723234 Tmem183a transmembrane protein 183A gene DOID:1540 parathyroid carcinoma ISO RGD:1320480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8723234 Tmem183a transmembrane protein 183A gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1320480 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8723234 Tmem183a transmembrane protein 183A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8723254 Chrdl1 chordin like 1 gene DOID:0060305 megalocornea ISO RGD:1349204 D RGD:7240710 20241120 OMIM 8723254 Chrdl1 chordin like 1 gene DOID:0060305 megalocornea ISO RGD:1349204 D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: CHRDL1-related condition | ClinVar Annotator: match by term: Isolated congenital megalocornea | ClinVar Annotator: match by term: Megalocornea PMID:22284829|PMID:25093588|PMID:25712132|PMID:25741868|PMID:26938784|PMID:28492532 8723254 Chrdl1 chordin like 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8723254 Chrdl1 chordin like 1 gene DOID:0080470 developmental and epileptic encephalopathy 36 ISO RGD:1349204 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 36 PMID:28492532 8723254 Chrdl1 chordin like 1 gene DOID:0111823 autosomal hemophilia A ISO RGD:1349204 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A PMID:31690835 8723254 Chrdl1 chordin like 1 gene DOID:12134 factor VIII deficiency ISO RGD:1349204 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Factor 8 deficiency, congenital PMID:31690835 8723254 Chrdl1 chordin like 1 gene DOID:12849 autistic disorder ISO RGD:1349204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8723254 Chrdl1 chordin like 1 gene DOID:5419 schizophrenia ISO RGD:1349204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8723254 Chrdl1 chordin like 1 gene DOID:630 genetic disease ISO RGD:1349204 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8723303 Kdm4c lysine demethylase 4C gene DOID:0050902 medulloblastoma ISO RGD:1316776 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19270706 8723303 Kdm4c lysine demethylase 4C gene DOID:0050902 medulloblastoma ISO RGD:1316776 D RGD:9068941 20200609 RGD mRNA:increased expression:brain (human) PMID:19270706|REF_RGD_ID:9587481 8723303 Kdm4c lysine demethylase 4C gene DOID:0060001 withdrawal disorder susceptibility ISO RGD:1316776 D RGD:9068941 20200609 RGD DNA:snps:multiple (human) PMID:22072270|REF_RGD_ID:9587485 8723303 Kdm4c lysine demethylase 4C gene DOID:0060221 Maffucci syndrome ISO RGD:1316776 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Maffucci syndrome PMID:25741868 8723303 Kdm4c lysine demethylase 4C gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1316776 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 8723303 Kdm4c lysine demethylase 4C gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:1316776 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29438700 8723303 Kdm4c lysine demethylase 4C gene DOID:10283 prostate cancer severity ISO RGD:1316776 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate gland (human) PMID:20127736|REF_RGD_ID:9587486 8723303 Kdm4c lysine demethylase 4C gene DOID:11934 head and neck cancer susceptibility ISO RGD:1316776 D RGD:9068941 20200609 RGD DNA:snps:cds, intron:p.N396D (rs2296067), IVS10G>T (rs818912) (human) PMID:19339270|REF_RGD_ID:9587748 8723303 Kdm4c lysine demethylase 4C gene DOID:12849 autistic disorder ISO RGD:1316776 D RGD:9068941 20200609 RGD DNA:snp:intron:IVS8-3292G>A (rs1340513) (human) PMID:20410850|REF_RGD_ID:9587484 8723303 Kdm4c lysine demethylase 4C gene DOID:1612 breast cancer severity ISO RGD:1316776 D RGD:9068941 20200609 RGD DNA:snp:cds:p.D396N (rs2296067) (human) PMID:24952432|REF_RGD_ID:9587745 8723303 Kdm4c lysine demethylase 4C gene DOID:1909 melanoma ISO RGD:1316776 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29438700 8723303 Kdm4c lysine demethylase 4C gene DOID:3748 esophagus squamous cell carcinoma severity ISO RGD:1316776 D RGD:9068941 20200609 RGD protein:increased expression:esophageal epithelium, nucleus (human) PMID:24224128|REF_RGD_ID:9587746 8723303 Kdm4c lysine demethylase 4C gene DOID:3748 esophagus squamous cell carcinoma susceptibility ISO RGD:1316776 D RGD:9068941 20200609 RGD DNA:snp:intron:IVS8-3292G>A (rs1340513) (human) PMID:15805246|REF_RGD_ID:9587752 8723303 Kdm4c lysine demethylase 4C gene DOID:4450 renal cell carcinoma ISO RGD:1316776 D RGD:9068941 20200609 RGD DNA:deletion:cds (human) PMID:22483639|REF_RGD_ID:9587741 8723303 Kdm4c lysine demethylase 4C gene DOID:4624 Ollier disease ISO RGD:1316776 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Enchondromatosis | ClinVar Annotator: match by term: Kast Syndrome PMID:25741868 8723303 Kdm4c lysine demethylase 4C gene DOID:5517 stomach carcinoma severity ISO RGD:1316776 D RGD:9068941 20200609 RGD protein:increased expression:stomach (human) PMID:24418035|REF_RGD_ID:9588260 8723303 Kdm4c lysine demethylase 4C gene DOID:9004118 Experimental Melanoma ISO RGD:1316776 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29438700 8723303 Kdm4c lysine demethylase 4C gene DOID:9008939 Breast Neoplasms ISO RGD:1316776 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:23129632|REF_RGD_ID:9587482 8723303 Kdm4c lysine demethylase 4C gene DOID:9008939 Breast Neoplasms severity ISO RGD:1316776 D RGD:9068941 20200609 RGD mRNA:increased expression:breast (human) PMID:19784073|REF_RGD_ID:9587479 8723303 Kdm4c lysine demethylase 4C gene DOID:9268 glycine encephalopathy ISO RGD:1316776 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glycine encephalopathy PMID:28492532 8723303 Kdm4c lysine demethylase 4C gene DOID:986 alopecia areata ISO RGD:1316776 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:21936853|REF_RGD_ID:9587460 8723332 Tfrc transferrin receptor gene DOID:0050642 hypochromic microcytic anemia ISO RGD:70503 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression: erythrocyte: PMID:18552213|REF_RGD_ID:11062089 8723332 Tfrc transferrin receptor gene DOID:0060041 autism spectrum disorder ISO RGD:733275 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8723332 Tfrc transferrin receptor gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:733275 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16904380 8723332 Tfrc transferrin receptor gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:733275 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 8723332 Tfrc transferrin receptor gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:70488 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:23805238|REF_RGD_ID:11541090 8723332 Tfrc transferrin receptor gene DOID:0111948 immunodeficiency 46 ISO RGD:733275 D RGD:7240710 20180130 OMIM 8723332 Tfrc transferrin receptor gene DOID:0111948 immunodeficiency 46 ISO RGD:733275 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Immunodeficiency 46 | ClinVar Annotator: match by term: TFRC-related combined immunodeficiency | ClinVar Annotator: match by term: TFRC-related condition PMID:17576681|PMID:25741868|PMID:26642240|PMID:28492532|PMID:32851577|PMID:9536098 8723332 Tfrc transferrin receptor gene DOID:0111962 combined immunodeficiency ISO RGD:733275 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency PMID:25741868|PMID:26642240|PMID:28492532|PMID:32851577 8723332 Tfrc transferrin receptor gene DOID:10283 prostate cancer ISO RGD:733275 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15514585|REF_RGD_ID:2292017 8723332 Tfrc transferrin receptor gene DOID:10608 celiac disease ISO RGD:70503 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:duodenum: PMID:15054143|REF_RGD_ID:11062102 8723332 Tfrc transferrin receptor gene DOID:11054 urinary bladder cancer ISO RGD:733275 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16904380 8723332 Tfrc transferrin receptor gene DOID:11612 polycystic ovary syndrome ISO RGD:733275 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8723332 Tfrc transferrin receptor gene DOID:11758 iron deficiency anemia ISO RGD:70503 D RGD:9068941 20200609 RGD PMID:26303393|REF_RGD_ID:11062104 8723332 Tfrc transferrin receptor gene DOID:11758 iron deficiency anemia ISO RGD:733275 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16733738|PMID:17162259|PMID:17163184 8723332 Tfrc transferrin receptor gene DOID:11758 iron deficiency anemia ISO RGD:733275 D RGD:9068941 20200609 RGD mRNA:increased expression:placenta: PMID:17877204|REF_RGD_ID:11062105 8723332 Tfrc transferrin receptor gene DOID:11758 iron deficiency anemia ISO RGD:733275 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:15104997|REF_RGD_ID:11062096 8723332 Tfrc transferrin receptor gene DOID:12241 beta thalassemia ISO RGD:70503 D RGD:9068941 20200609 RGD mRNA:increased expression:liver: PMID:16755567|REF_RGD_ID:11062138 8723332 Tfrc transferrin receptor gene DOID:12241 beta thalassemia ISO RGD:733275 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16755567 8723332 Tfrc transferrin receptor gene DOID:12849 autistic disorder ISO RGD:733275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8723332 Tfrc transferrin receptor gene DOID:1612 breast cancer ISO RGD:733275 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:14965443|REF_RGD_ID:2292018 8723332 Tfrc transferrin receptor gene DOID:1612 breast cancer severity ISO RGD:733275 D RGD:9068941 20200609 RGD mRNA:increased expression:breast PMID:11299801|REF_RGD_ID:2292021 8723332 Tfrc transferrin receptor gene DOID:1724 duodenal ulcer ISO RGD:70488 D RGD:9068941 20200609 RGD protein:increased expression:duodenal mucosa PMID:19342511|REF_RGD_ID:11541091 8723332 Tfrc transferrin receptor gene DOID:2351 iron metabolism disease ISO RGD:733275 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17163184|PMID:17254562 8723332 Tfrc transferrin receptor gene DOID:2394 ovarian cancer ISO RGD:733275 D RGD:9068941 20200609 RGD PMID:3493065|REF_RGD_ID:2298574 8723332 Tfrc transferrin receptor gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:733275 D RGD:9068941 20200609 RGD PMID:9373912|REF_RGD_ID:2292023 8723332 Tfrc transferrin receptor gene DOID:3070 high grade glioma ISO RGD:733275 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16904380 8723332 Tfrc transferrin receptor gene DOID:3459 breast carcinoma ISO RGD:733275 D RGD:9068941 20200609 RGD PMID:11497259|REF_RGD_ID:2292020 8723332 Tfrc transferrin receptor gene DOID:3702 cervical adenocarcinoma ISO RGD:733275 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:9739406|REF_RGD_ID:2292022 8723332 Tfrc transferrin receptor gene DOID:374 nutrition disease ISO RGD:70488 D RGD:9068941 20200609 RGD protein:decreased expression:T cell PMID:18373698|REF_RGD_ID:2292028 8723332 Tfrc transferrin receptor gene DOID:3944 Arenaviridae infectious disease ISO RGD:733275 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17287727 8723332 Tfrc transferrin receptor gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:70503 D RGD:9068941 20221006 MouseDO OMIM:261800 8723332 Tfrc transferrin receptor gene DOID:4450 renal cell carcinoma ISO RGD:733275 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney, T cell PMID:8050820|REF_RGD_ID:2292025 8723332 Tfrc transferrin receptor gene DOID:4450 renal cell carcinoma ISO RGD:733275 D RGD:9068941 20200609 RGD protein:increased expression:kidney, T cell PMID:12394762|REF_RGD_ID:2292024 8723332 Tfrc transferrin receptor gene DOID:5419 schizophrenia ISO RGD:733275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8723332 Tfrc transferrin receptor gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 8723332 Tfrc transferrin receptor gene DOID:627 severe combined immunodeficiency ISO RGD:733275 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26642240 8723332 Tfrc transferrin receptor gene DOID:628 combined T cell and B cell immunodeficiency ISO RGD:733275 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Combined T and B cell immunodeficiency PMID:25741868|PMID:26642240|PMID:28492532|PMID:32851577 8723332 Tfrc transferrin receptor gene DOID:630 genetic disease ISO RGD:733275 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8723332 Tfrc transferrin receptor gene DOID:684 hepatocellular carcinoma ISO RGD:70488 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:16953838|REF_RGD_ID:2292036 8723332 Tfrc transferrin receptor gene DOID:767 muscular atrophy ISO RGD:70488 D RGD:9068941 20200609 RGD mRNA:decreased expression:gastrocnemius PMID:18395385|REF_RGD_ID:2292027 8723332 Tfrc transferrin receptor gene DOID:8955 sideroblastic anemia ISO RGD:70503 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:erythroblast: PMID:21326867|REF_RGD_ID:11062136 8723332 Tfrc transferrin receptor gene DOID:9000242 Lymphoma, AIDS-Related treatment ISO RGD:733275 D RGD:9068941 20200609 RGD PMID:26325374|REF_RGD_ID:11062098 8723332 Tfrc transferrin receptor gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:733275 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16904380 8723332 Tfrc transferrin receptor gene DOID:9003281 Spontaneous Abortions ISO RGD:733275 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 8723332 Tfrc transferrin receptor gene DOID:9004240 Phyllodes Tumor ISO RGD:733275 D RGD:9068941 20200609 RGD protein:increased expression:myoepithelial cell PMID:2174150|REF_RGD_ID:2292026 8723332 Tfrc transferrin receptor gene DOID:9004713 Acute-Phase Reaction ISO RGD:70488 D RGD:9068941 20200609 RGD PMID:17417667|REF_RGD_ID:1601529 8723332 Tfrc transferrin receptor gene DOID:9005172 Lung Neoplasms ISO RGD:733275 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16904380 8723332 Tfrc transferrin receptor gene DOID:9005372 Inflammation ISO RGD:733275 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16603144 8723332 Tfrc transferrin receptor gene DOID:9007102 Myocardial Ischemia ISO RGD:733275 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8723332 Tfrc transferrin receptor gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:733275 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21785164 8723332 Tfrc transferrin receptor gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:733275 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18549825 8723332 Tfrc transferrin receptor gene DOID:9007970 Chronic Cerebral Hypoperfusion ISO RGD:70488 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:22639386|REF_RGD_ID:11541085 8723332 Tfrc transferrin receptor gene DOID:9008114 Helicobacter Infections ISO RGD:733275 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16733738|PMID:17163184 8723332 Tfrc transferrin receptor gene DOID:9008443 Colorectal Neoplasms ISO RGD:733275 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16111806 8723332 Tfrc transferrin receptor gene DOID:9008939 Breast Neoplasms ISO RGD:733275 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16904380|PMID:19238537 8723332 Tfrc transferrin receptor gene DOID:9538 multiple myeloma treatment ISO RGD:733275 D RGD:9068941 20200609 RGD PMID:21654517|REF_RGD_ID:11062101 8723332 Tfrc transferrin receptor gene DOID:9970 obesity ISO RGD:733275 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17062801|PMID:20882379 8723366 Znf451 zinc finger protein 451 gene DOID:5419 schizophrenia ISO RGD:1314152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8723386 CUNH7orf25 chromosome unknown C7orf25 homolog gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1317752 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8723404 Xpnpep2 X-prolyl aminopeptidase 2 gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:734376 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:17436253|PMID:24357419|PMID:28492532 8723404 Xpnpep2 X-prolyl aminopeptidase 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:734376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8723404 Xpnpep2 X-prolyl aminopeptidase 2 gene DOID:0060824 syndromic X-linked intellectual disability Raymond type ISO RGD:734376 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Raymond type PMID:17436253|PMID:22796527|PMID:24357419|PMID:28492532 8723404 Xpnpep2 X-prolyl aminopeptidase 2 gene DOID:0080941 acquired angioedema ISO RGD:734376 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Susceptibility to angioedema induced by ACE inhibitors PMID:16175507|PMID:20625347|PMID:21898657|PMID:25741868 8723404 Xpnpep2 X-prolyl aminopeptidase 2 gene DOID:0080941 acquired angioedema susceptibility ISO RGD:734376 D RGD:7240710 20190502 OMIM 8723404 Xpnpep2 X-prolyl aminopeptidase 2 gene DOID:0111823 autosomal hemophilia A ISO RGD:734376 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A PMID:31690835 8723404 Xpnpep2 X-prolyl aminopeptidase 2 gene DOID:1056 oculocerebrorenal syndrome ISO RGD:734376 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lowe syndrome PMID:22965764|PMID:28492532 8723404 Xpnpep2 X-prolyl aminopeptidase 2 gene DOID:12134 factor VIII deficiency ISO RGD:734376 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Factor 8 deficiency, congenital PMID:31690835 8723404 Xpnpep2 X-prolyl aminopeptidase 2 gene DOID:12849 autistic disorder ISO RGD:734376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8723404 Xpnpep2 X-prolyl aminopeptidase 2 gene DOID:1558 angioedema ISO RGD:734376 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16175507 8723404 Xpnpep2 X-prolyl aminopeptidase 2 gene DOID:5426 primary ovarian insufficiency ISO RGD:734376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 8723404 Xpnpep2 X-prolyl aminopeptidase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:734376 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8723429 Hltf helicase like transcription factor gene DOID:0050579 glycogen storage disease XV ISO RGD:1319146 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 8723429 Hltf helicase like transcription factor gene DOID:0050711 aceruloplasminemia ISO RGD:1319146 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Deficiency of ferroxidase PMID:16629161|PMID:28492532 8723429 Hltf helicase like transcription factor gene DOID:9002265 Kidney Neoplasms ISO RGD:1319146 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762066 8723474 Gdf10 growth differentiation factor 10 gene DOID:10283 prostate cancer ISO RGD:1342570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8723474 Gdf10 growth differentiation factor 10 gene DOID:5419 schizophrenia ISO RGD:1342570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8723474 Gdf10 growth differentiation factor 10 gene DOID:9003566 Mesothelioma ISO RGD:1342570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18949431 8723474 Gdf10 growth differentiation factor 10 gene DOID:9006474 Arterial Occlusive Diseases ISO RGD:1342570 D RGD:9068941 20230831 RGD mRNA:decreased expression:leg blood vessel (human) PMID:22721676|REF_RGD_ID:401793723 8723474 Gdf10 growth differentiation factor 10 gene DOID:9008939 Breast Neoplasms ISO RGD:1342570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23180569 8723486 Ppp2r5a protein phosphatase 2 regulatory subunit B'alpha gene DOID:1540 parathyroid carcinoma ISO RGD:1317550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8723486 Ppp2r5a protein phosphatase 2 regulatory subunit B'alpha gene DOID:9002884 Emphysema ISO RGD:1317550 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22223484 8723486 Ppp2r5a protein phosphatase 2 regulatory subunit B'alpha gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8723520 Plpp4 phospholipid phosphatase 4 gene DOID:1612 breast cancer ISO RGD:1351368 D RGD:9068941 20200609 RGD mRNA:increased expression:breast PMID:16818692|REF_RGD_ID:2314524 8723537 Sh3bgrl3 SH3 domain binding glutamate rich protein like 3 gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1317706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 8723537 Sh3bgrl3 SH3 domain binding glutamate rich protein like 3 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1317706 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 8723537 Sh3bgrl3 SH3 domain binding glutamate rich protein like 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317706 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8723546 Tspan16 tetraspanin 16 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1349307 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 8723546 Tspan16 tetraspanin 16 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1349307 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 8723546 Tspan16 tetraspanin 16 gene DOID:0111254 glutaric acidemia I ISO RGD:1349307 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 8723546 Tspan16 tetraspanin 16 gene DOID:3413 alpha-mannosidosis ISO RGD:1349307 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 8723562 Wdr83os WD repeat domain 83 opposite strand gene DOID:0050990 episodic ataxia type 2 ISO RGD:1605383 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:20097664|PMID:21183743|PMID:21454563|PMID:23831250|PMID:25274781|PMID:25735478|PMID:26814174|PMID:27250579|PMID:28007337|PMID:28492532|PMID:31139143 8723562 Wdr83os WD repeat domain 83 opposite strand gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1605383 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 8723562 Wdr83os WD repeat domain 83 opposite strand gene DOID:0111254 glutaric acidemia I ISO RGD:1605383 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:21454563|PMID:25274781|PMID:25735478|PMID:27250579|PMID:28492532 8723562 Wdr83os WD repeat domain 83 opposite strand gene DOID:3413 alpha-mannosidosis ISO RGD:1605383 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:22161967|PMID:28492532|PMID:32331969|PMID:9915946 8723562 Wdr83os WD repeat domain 83 opposite strand gene DOID:9000258 Aicardi-Goutieres Syndrome 4 ISO RGD:1605383 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:21454563|PMID:25274781|PMID:25735478|PMID:27250579|PMID:28492532 8723562 Wdr83os WD repeat domain 83 opposite strand gene DOID:9000463 Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment ISO RGD:1605383 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures and speech and walking impairment PMID:25741868|PMID:30250217 8723562 Wdr83os WD repeat domain 83 opposite strand gene DOID:9007118 Familial Hypercholanemia ISO RGD:1605383 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Hypercholanemia, familial PMID:25741868|PMID:30250217|PMID:39471804 8723562 Wdr83os WD repeat domain 83 opposite strand gene DOID:9009269 NEURODEVELOPMENTAL DISORDER WITH VARIABLE FAMILIAL HYPERCHOLANEMIA ISO RGD:1605383 D RGD:7240710 20250108 OMIM 8723562 Wdr83os WD repeat domain 83 opposite strand gene DOID:9009269 NEURODEVELOPMENTAL DISORDER WITH VARIABLE FAMILIAL HYPERCHOLANEMIA ISO RGD:1605383 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH VARIABLE FAMILIAL HYPERCHOLANEMIA PMID:25741868|PMID:30250217|PMID:39471804 8723570 Ccl21 C-C motif chemokine ligand 21 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ISO RGD:1323745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 8723570 Ccl21 C-C motif chemokine ligand 21 gene DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2 ISO RGD:1323745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 8723570 Ccl21 C-C motif chemokine ligand 21 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1323745 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 8723570 Ccl21 C-C motif chemokine ligand 21 gene DOID:0080942 anauxetic dysplasia ISO RGD:1323745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 8723570 Ccl21 C-C motif chemokine ligand 21 gene DOID:0111065 autosomal recessive distal hereditary motor neuronopathy 2 ISO RGD:1323745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 8723570 Ccl21 C-C motif chemokine ligand 21 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1323745 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 8723570 Ccl21 C-C motif chemokine ligand 21 gene DOID:3770 pulmonary fibrosis ISO RGD:1323745 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:17717200|REF_RGD_ID:5130910 8723570 Ccl21 C-C motif chemokine ligand 21 gene DOID:607 paraplegia ISO RGD:1323745 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:23332916|PMID:23332917|PMID:28492532 8723570 Ccl21 C-C motif chemokine ligand 21 gene DOID:7148 rheumatoid arthritis ISO RGD:1323745 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18794853|PMID:20453842|PMID:23143596 8723570 Ccl21 C-C motif chemokine ligand 21 gene DOID:9006262 Cytomegalovirus Infections ISO RGD:1323745 D RGD:9068941 20200820 RGD protein:increased expression:plasma (human) PMID:23593305|REF_RGD_ID:38508895 8723570 Ccl21 C-C motif chemokine ligand 21 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1323745 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8723570 Ccl21 C-C motif chemokine ligand 21 gene DOID:9870 galactosemia ISO RGD:1323745 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 8723581 Sem1 SEM1 26S proteasome subunit gene DOID:1749 squamous cell carcinoma ISO RGD:1349756 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18922899 8723581 Sem1 SEM1 26S proteasome subunit gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1349756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8723601 Rpl35 ribosomal protein L35 gene DOID:0111886 Diamond-Blackfan anemia 19 ISO RGD:1353068 D RGD:7240710 20190315 OMIM 8723601 Rpl35 ribosomal protein L35 gene DOID:0111886 Diamond-Blackfan anemia 19 ISO RGD:1353068 D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 19 | ClinVar Annotator: match by term: RPL35-related condition PMID:28280134|PMID:28492532 8723653 Eif5a2 eukaryotic translation initiation factor 5A2 gene DOID:0070562 Fanconi-Bickel syndrome ISO RGD:1314674 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 8723653 Eif5a2 eukaryotic translation initiation factor 5A2 gene DOID:9002644 Premature Aging ISO RGD:1314674 D RGD:9068941 20200609 RGD PMID:21612665|REF_RGD_ID:10395359 8723676 Slc2a5 solute carrier family 2 member 5 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:68456 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8723676 Slc2a5 solute carrier family 2 member 5 gene DOID:2843 long QT syndrome ISO RGD:68456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 8723676 Slc2a5 solute carrier family 2 member 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:68456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8723676 Slc2a5 solute carrier family 2 member 5 gene DOID:9008939 Breast Neoplasms ISO RGD:68456 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15449313 8723692 Pus1 pseudouridine synthase 1 gene DOID:0080099 myopathy, lactic acidosis, and sideroblastic anemia ISO RGD:1323553 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Mitochondrial myopathy and sideroblastic anemia | ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia PMID:17056637|PMID:19731322|PMID:25058219|PMID:25741868|PMID:26556812|PMID:28492532 8723692 Pus1 pseudouridine synthase 1 gene DOID:0111185 myopathy, lactic acidosis, and sideroblastic anemia 1 ISO RGD:1323553 D RGD:7240710 20190320 OMIM 8723692 Pus1 pseudouridine synthase 1 gene DOID:0111185 myopathy, lactic acidosis, and sideroblastic anemia 1 ISO RGD:1323553 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 1 | ClinVar Annotator: match by term: PUS1-related condition PMID:14981724|PMID:15108122|PMID:15772074|PMID:15971356|PMID:17056637|PMID:17576681|PMID:18648068|PMID:19731322|PMID:23707380|PMID:25058219|PMID:25227147|PMID:25741868|PMID:26556812|PMID:27374853|PMID:28492532|PMID:7726239|PMID:9536098 8723692 Pus1 pseudouridine synthase 1 gene DOID:630 genetic disease ISO RGD:1323553 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8723692 Pus1 pseudouridine synthase 1 gene DOID:699 mitochondrial myopathy ISO RGD:1323553 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Mitochondrial Myopathies PMID:25741868|PMID:28492532 8723692 Pus1 pseudouridine synthase 1 gene DOID:8955 sideroblastic anemia ISO RGD:1323553 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Sideroblastic anemia PMID:25741868|PMID:28492532 8723692 Pus1 pseudouridine synthase 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1323553 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8723692 Pus1 pseudouridine synthase 1 gene DOID:9000918 Disease Progression ISO RGD:1323553 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8723692 Pus1 pseudouridine synthase 1 gene DOID:9256 colorectal cancer ISO RGD:1323553 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532 8723724 Slu7 SLU7 homolog, splicing factor gene DOID:9004657 Weight Gain ISO RGD:1606825 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 8723745 LOC102027510 olfactory receptor 10X1 gene DOID:1540 parathyroid carcinoma ISO RGD:1342523 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8723745 LOC102027510 olfactory receptor 10X1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1342523 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8723748 Txnrd2 thioredoxin reductase 2 gene DOID:0050700 cardiomyopathy ISO RGD:1606823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: TXNRD2-associated Cardiomyopathy PMID:28492532 8723748 Txnrd2 thioredoxin reductase 2 gene DOID:0050700 cardiomyopathy ISO RGD:1606823 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 8723748 Txnrd2 thioredoxin reductase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1606823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 8723748 Txnrd2 thioredoxin reductase 2 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1606823 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 8723748 Txnrd2 thioredoxin reductase 2 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1606823 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:25741868|PMID:31690835 8723748 Txnrd2 thioredoxin reductase 2 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1606823 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 8723748 Txnrd2 thioredoxin reductase 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1606823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:28492532 8723748 Txnrd2 thioredoxin reductase 2 gene DOID:0111996 immunodeficiency 51 ISO RGD:1606823 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 8723748 Txnrd2 thioredoxin reductase 2 gene DOID:1059 intellectual disability ISO RGD:1606823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8723748 Txnrd2 thioredoxin reductase 2 gene DOID:1067 open-angle glaucoma ISO RGD:1606823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26752265 8723748 Txnrd2 thioredoxin reductase 2 gene DOID:11198 DiGeorge syndrome ISO RGD:1606823 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 8723748 Txnrd2 thioredoxin reductase 2 gene DOID:11372 megacolon ISO RGD:1606823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8723748 Txnrd2 thioredoxin reductase 2 gene DOID:12583 velocardiofacial syndrome ISO RGD:1606823 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 8723748 Txnrd2 thioredoxin reductase 2 gene DOID:12849 autistic disorder ISO RGD:1606823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8723748 Txnrd2 thioredoxin reductase 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1606823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:16199547|PMID:17576681|PMID:21247928|PMID:24601690|PMID:25741868|PMID:26300845|PMID:28074886|PMID:28166811|PMID:28416588|PMID:28492532|PMID:31712860|PMID:31983221|PMID:9536098 8723748 Txnrd2 thioredoxin reductase 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1606823 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:16199547|PMID:17576681|PMID:21247928|PMID:24601690|PMID:25741868|PMID:26300845|PMID:28074886|PMID:28416588|PMID:28492532|PMID:31712860|PMID:31983221|PMID:9536098 8723748 Txnrd2 thioredoxin reductase 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1606823 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:16199547|PMID:17576681|PMID:21247928|PMID:24601690|PMID:25741868|PMID:26300845|PMID:28074886|PMID:28416588|PMID:28492532|PMID:31712860|PMID:31983221|PMID:32257832|PMID:9536098 8723748 Txnrd2 thioredoxin reductase 2 gene DOID:1826 epilepsy ISO RGD:1606823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8723748 Txnrd2 thioredoxin reductase 2 gene DOID:2213 hemorrhagic disease ISO RGD:1606823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 8723748 Txnrd2 thioredoxin reductase 2 gene DOID:3070 high grade glioma ISO RGD:1606823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 8723748 Txnrd2 thioredoxin reductase 2 gene DOID:5419 schizophrenia ISO RGD:1606823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8723748 Txnrd2 thioredoxin reductase 2 gene DOID:612 primary immunodeficiency disease ISO RGD:1606823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 8723748 Txnrd2 thioredoxin reductase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1606823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21716162 8723748 Txnrd2 thioredoxin reductase 2 gene DOID:9003871 Venous Thrombosis ISO RGD:1606823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:25741868|PMID:31064749 8723748 Txnrd2 thioredoxin reductase 2 gene DOID:9004009 Reperfusion Injury ISO RGD:61960 D RGD:9068941 20200609 RGD mRNA:decreased expression:cerebral cortex PMID:19128823|REF_RGD_ID:5685030 8723748 Txnrd2 thioredoxin reductase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8723748 Txnrd2 thioredoxin reductase 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:61960 D RGD:9068941 20200609 RGD mRNA:altered expression:myocardium (rat) PMID:20571744|REF_RGD_ID:5133714 8723748 Txnrd2 thioredoxin reductase 2 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1606823 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 8723748 Txnrd2 thioredoxin reductase 2 gene DOID:9009066 Glucocorticoid Deficiency 5 ISO RGD:1606823 D RGD:7240710 20190315 OMIM 8723748 Txnrd2 thioredoxin reductase 2 gene DOID:9009066 Glucocorticoid Deficiency 5 ISO RGD:1606823 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Glucocorticoid deficiency 5 | ClinVar Annotator: match by term: TXNRD2-related condition PMID:16199547|PMID:21247928|PMID:24601690|PMID:25741868|PMID:26300845|PMID:28416588|PMID:28492532|PMID:31712860|PMID:31983221|PMID:32257832 8723771 Actc1 actin alpha cardiac muscle 1 gene DOID:0050700 cardiomyopathy ISO RGD:735789 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10494087|PMID:10966831|PMID:11052860|PMID:12860912|PMID:14729850|PMID:15058760|PMID:16267253|PMID:16611632|PMID:17576681|PMID:17611253|PMID:17623677|PMID:17916152|PMID:17947298|PMID:18379140|PMID:18400036|PMID:18506004|PMID:18519860|PMID:18801786|PMID:19184181|PMID:19467449|PMID:19799913|PMID:20031618|PMID:20497191|PMID:20965760|PMID:21297463|PMID:21524215|PMID:21551322|PMID:21622575|PMID:2255271|PMID:22555271|PMID:23054336|PMID:23283745|PMID:24033266|PMID:24704860|PMID:24736382|PMID:25132132|PMID:25163546|PMID:25228707|PMID:25741868|PMID:27532257|PMID:28138913|PMID:28408708|PMID:28416588|PMID:28492532|PMID:28798025|PMID:29719515|PMID:30371277|PMID:30471092|PMID:30847666|PMID:31019026|PMID:31246743|PMID:31430208|PMID:31434612|PMID:32720330|PMID:32815737|PMID:32880476|PMID:34011823|PMID:34088380|PMID:34495297|PMID:34935411|PMID:35026164|PMID:36129056|PMID:37652022|PMID:676951|PMID:9536098 8723771 Actc1 actin alpha cardiac muscle 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:735789 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 8723771 Actc1 actin alpha cardiac muscle 1 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:735789 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:10966831|PMID:12860912|PMID:14729850|PMID:15058760|PMID:16267253|PMID:16611632|PMID:17611253|PMID:17623677|PMID:17916152|PMID:17947298|PMID:18379140|PMID:18400036|PMID:18506004|PMID:18519860|PMID:18801786|PMID:19184181|PMID:19467449|PMID:19799913|PMID:20497191|PMID:20965760|PMID:21297463|PMID:21524215|PMID:21551322|PMID:21622575|PMID:24033266|PMID:24736382|PMID:25524337|PMID:25741868|PMID:27532257|PMID:28492532|PMID:29907873|PMID:30371277|PMID:35626289 8723771 Actc1 actin alpha cardiac muscle 1 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:735789 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:10966831|PMID:12860912|PMID:14729850|PMID:15058760|PMID:16267253|PMID:16611632|PMID:17611253|PMID:17623677|PMID:17916152|PMID:17947298|PMID:18379140|PMID:18400036|PMID:18506004|PMID:18519860|PMID:18801786|PMID:19184181|PMID:19467449|PMID:19799913|PMID:20497191|PMID:20965760|PMID:21297463|PMID:21524215|PMID:21551322|PMID:21622575|PMID:24033266|PMID:24736382|PMID:25524337|PMID:25741868|PMID:27532257|PMID:28492532|PMID:29907873|PMID:30371277|PMID:32720330|PMID:35626289 8723771 Actc1 actin alpha cardiac muscle 1 gene DOID:0080954 arthrogryposis multiplex congenita ISO RGD:735789 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Arthrogryposis PMID:25741868|PMID:36945405 8723771 Actc1 actin alpha cardiac muscle 1 gene DOID:0110110 atrial heart septal defect 5 ISO RGD:735789 D RGD:7240710 20180130 OMIM 8723771 Actc1 actin alpha cardiac muscle 1 gene DOID:0110110 atrial heart septal defect 5 ISO RGD:735789 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Atrial septal defect 5 PMID:10494087|PMID:10966831|PMID:11052860|PMID:12860912|PMID:14729850|PMID:15058760|PMID:16267253|PMID:16611632|PMID:17576681|PMID:17611253|PMID:17623677|PMID:17916152|PMID:17947298|PMID:18379140|PMID:18400036|PMID:18403758|PMID:18506004|PMID:18519860|PMID:18801786|PMID:19184181|PMID:19467449|PMID:19799913|PMID:20497191|PMID:20965760|PMID:21297463|PMID:21524215|PMID:21551322|PMID:21622575|PMID:21839045|PMID:22464770|PMID:2255271|PMID:22555271|PMID:22563033|PMID:23054336|PMID:24033266|PMID:24461919|PMID:24503780|PMID:24736382|PMID:25163546|PMID:25239116|PMID:25611685|PMID:25741868|PMID:27532257|PMID:27561770|PMID:27600940|PMID:28138913|PMID:28356264|PMID:28416588|PMID:28492532|PMID:28750076|PMID:28790153|PMID:28798025|PMID:28973083|PMID:28991257|PMID:29121657|PMID:29764897|PMID:30297972|PMID:30371277|PMID:30471092|PMID:30847666|PMID:31019026|PMID:31246743|PMID:31430208|PMID:31434612|PMID:31481237|PMID:32720330|PMID:32880476|PMID:33049292|PMID:33309763|PMID:33495597|PMID:33500567|PMID:34088380|PMID:34495297|PMID:34935411|PMID:35026164|PMID:36129056|PMID:36960733|PMID:37477868|PMID:37652022|PMID:676951|PMID:9536098 8723771 Actc1 actin alpha cardiac muscle 1 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:735789 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10966831|PMID:12860912|PMID:14729850|PMID:15058760|PMID:16267253|PMID:16611632|PMID:17611253|PMID:17623677|PMID:17916152|PMID:17947298|PMID:18379140|PMID:18400036|PMID:18506004|PMID:18519860|PMID:18801786|PMID:19184181|PMID:19467449|PMID:19799913|PMID:20497191|PMID:20965760|PMID:21297463|PMID:21524215|PMID:21551322|PMID:21622575|PMID:24033266|PMID:24736382|PMID:25741868|PMID:27532257|PMID:28492532|PMID:30371277|PMID:32720330 8723771 Actc1 actin alpha cardiac muscle 1 gene DOID:0110317 hypertrophic cardiomyopathy 11 ISO RGD:735789 D RGD:7240710 20180130 OMIM 8723771 Actc1 actin alpha cardiac muscle 1 gene DOID:0110317 hypertrophic cardiomyopathy 11 ISO RGD:735789 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 11 PMID:10330430|PMID:10494087|PMID:10966831|PMID:11052860|PMID:12222827|PMID:12860912|PMID:14729850|PMID:15058760|PMID:16199547|PMID:16267253|PMID:16611632|PMID:17576681|PMID:17611253|PMID:17623677|PMID:17916152|PMID:17947298|PMID:18379140|PMID:18400036|PMID:18403758|PMID:18458017|PMID:18506004|PMID:18519860|PMID:18801786|PMID:19184181|PMID:19467449|PMID:19562689|PMID:19799913|PMID:20497191|PMID:20600154|PMID:20965760|PMID:21297463|PMID:21524215|PMID:21551322|PMID:21622575|PMID:21839045|PMID:22464770|PMID:2255271|PMID:22555271|PMID:22563033|PMID:22590617|PMID:23054336|PMID:23283745|PMID:24033266|PMID:24461919|PMID:24503780|PMID:24691700|PMID:24736382|PMID:24793351|PMID:25163546|PMID:25239116|PMID:25524337|PMID:25611685|PMID:25741868|PMID:27125413|PMID:27532257|PMID:27561770|PMID:27600940|PMID:28138913|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28492532|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28973083|PMID:28991257|PMID:29121657|PMID:29440008|PMID:29719515|PMID:29764897|PMID:29907873|PMID:30297972|PMID:30371277|PMID:30471092|PMID:30600190|PMID:30665703|PMID:30685992|PMID:30762279|PMID:30847666|PMID:31019026|PMID:31246743|PMID:31430208|PMID:31434612|PMID:31481237|PMID:32720330|PMID:32815737|PMID:32830170|PMID:32880476|PMID:33019804|PMID:33049292|PMID:33309763|PMID:33495597|PMID:33500567|PMID:34011823|PMID:34088380|PMID:34495297|PMID:34930662|PMID:34935411|PMID:35026164|PMID:35457283|PMID:35626289|PMID:36129056|PMID:36252119|PMID:36960733|PMID:37342443|PMID:37477868|PMID:37652022|PMID:39481677|PMID:676951|PMID:9536098|PMID:9563954 8723771 Actc1 actin alpha cardiac muscle 1 gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:735789 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:25741868|PMID:28492532 8723771 Actc1 actin alpha cardiac muscle 1 gene DOID:0110456 dilated cardiomyopathy 1R ISO RGD:735789 D RGD:7240710 20180228 OMIM 8723771 Actc1 actin alpha cardiac muscle 1 gene DOID:0110456 dilated cardiomyopathy 1R ISO RGD:735789 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1R PMID:10494087|PMID:10966831|PMID:11052860|PMID:12860912|PMID:14729850|PMID:15058760|PMID:16267253|PMID:16611632|PMID:17576681|PMID:17611253|PMID:17623677|PMID:17916152|PMID:17947298|PMID:18379140|PMID:18400036|PMID:18403758|PMID:18506004|PMID:18519860|PMID:18801786|PMID:19184181|PMID:19467449|PMID:19799913|PMID:20497191|PMID:20600154|PMID:20965760|PMID:21297463|PMID:21524215|PMID:21551322|PMID:21622575|PMID:21839045|PMID:2255271|PMID:22555271|PMID:22563033|PMID:22590617|PMID:23054336|PMID:23283745|PMID:24033266|PMID:24461919|PMID:24503780|PMID:24736382|PMID:24793351|PMID:25163546|PMID:25239116|PMID:25611685|PMID:25741868|PMID:27532257|PMID:27561770|PMID:27600940|PMID:28138913|PMID:28356264|PMID:28416588|PMID:28492532|PMID:28750076|PMID:28790153|PMID:28798025|PMID:28973083|PMID:28991257|PMID:29121657|PMID:29719515|PMID:29764897|PMID:30297972|PMID:30371277|PMID:30471092|PMID:30847666|PMID:31019026|PMID:31246743|PMID:31430208|PMID:31434612|PMID:31481237|PMID:32720330|PMID:32880476|PMID:33019804|PMID:33049292|PMID:33309763|PMID:33495597|PMID:33500567|PMID:34011823|PMID:34088380|PMID:34495297|PMID:34930662|PMID:34935411|PMID:35026164|PMID:35457283|PMID:36129056|PMID:36960733|PMID:37477868|PMID:37652022|PMID:39481677|PMID:676951|PMID:9536098|PMID:9563954 8723771 Actc1 actin alpha cardiac muscle 1 gene DOID:10763 hypertension ISO RGD:2026 D RGD:9068941 20200609 RGD PMID:16343576|REF_RGD_ID:1598724 8723771 Actc1 actin alpha cardiac muscle 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:735789 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:10494087|PMID:10966831|PMID:11052860|PMID:12860912|PMID:14729850|PMID:15058760|PMID:16267253|PMID:16611632|PMID:17576681|PMID:17611253|PMID:17623677|PMID:17916152|PMID:17947298|PMID:18379140|PMID:18400036|PMID:18403758|PMID:18506004|PMID:18519860|PMID:18801786|PMID:19184181|PMID:19467449|PMID:19799913|PMID:20497191|PMID:20965760|PMID:21297463|PMID:21524215|PMID:21551322|PMID:21622575|PMID:21839045|PMID:22464770|PMID:2255271|PMID:22555271|PMID:22563033|PMID:22590617|PMID:23054336|PMID:23283745|PMID:24033266|PMID:24461919|PMID:24736382|PMID:25163546|PMID:25239116|PMID:25611685|PMID:25741868|PMID:27532257|PMID:28138913|PMID:28356264|PMID:28416588|PMID:28492532|PMID:28790153|PMID:28798025|PMID:28991257|PMID:29121657|PMID:30297972|PMID:30371277|PMID:30471092|PMID:30847666|PMID:31019026|PMID:31246743|PMID:31481237|PMID:32720330|PMID:32815737|PMID:32880476|PMID:33049292|PMID:34011823|PMID:34088380|PMID:34495297|PMID:34930662|PMID:34935411|PMID:35026164|PMID:35457283|PMID:36960733|PMID:37652022|PMID:676951|PMID:9536098|PMID:9563954 8723771 Actc1 actin alpha cardiac muscle 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:735789 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10966831|PMID:12860912|PMID:14729850|PMID:15058760|PMID:16267253|PMID:16611632|PMID:17611253|PMID:17623677|PMID:17916152|PMID:17947298|PMID:18379140|PMID:18400036|PMID:18506004|PMID:18519860|PMID:18801786|PMID:19184181|PMID:19467449|PMID:19799913|PMID:20497191|PMID:20965760|PMID:21297463|PMID:21524215|PMID:21551322|PMID:21622575|PMID:24033266|PMID:24503780|PMID:24736382|PMID:25201647|PMID:25741868|PMID:27532257|PMID:28492532 8723771 Actc1 actin alpha cardiac muscle 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:735789 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10966831|PMID:12860912|PMID:14729850|PMID:15058760|PMID:16267253|PMID:16611632|PMID:17611253|PMID:17623677|PMID:17916152|PMID:17947298|PMID:18379140|PMID:18400036|PMID:18506004|PMID:18519860|PMID:18801786|PMID:19184181|PMID:19467449|PMID:19799913|PMID:20497191|PMID:20965760|PMID:21297463|PMID:21524215|PMID:21551322|PMID:21622575|PMID:24033266|PMID:24503780|PMID:24736382|PMID:25201647|PMID:25741868|PMID:27532257|PMID:28492532|PMID:30371277 8723771 Actc1 actin alpha cardiac muscle 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:735789 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10966831|PMID:12860912|PMID:14729850|PMID:15058760|PMID:16267253|PMID:16611632|PMID:17611253|PMID:17623677|PMID:17916152|PMID:17947298|PMID:18379140|PMID:18400036|PMID:18506004|PMID:18519860|PMID:18801786|PMID:19184181|PMID:19467449|PMID:19799913|PMID:20497191|PMID:20965760|PMID:21297463|PMID:21524215|PMID:21551322|PMID:21622575|PMID:22464770|PMID:24033266|PMID:24503780|PMID:24736382|PMID:25201647|PMID:25741868|PMID:27532257|PMID:28492532|PMID:30371277 8723771 Actc1 actin alpha cardiac muscle 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:735789 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Left ventricular dilatation | ClinVar Annotator: match by term: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10966831|PMID:12860912|PMID:14729850|PMID:15058760|PMID:16267253|PMID:16611632|PMID:17611253|PMID:17623677|PMID:17916152|PMID:17947298|PMID:18379140|PMID:18400036|PMID:18506004|PMID:18519860|PMID:18801786|PMID:19184181|PMID:19467449|PMID:19799913|PMID:20497191|PMID:20965760|PMID:21297463|PMID:21524215|PMID:21551322|PMID:21622575|PMID:22464770|PMID:24033266|PMID:24503780|PMID:24736382|PMID:25201647|PMID:25741868|PMID:27532257|PMID:28416588|PMID:28492532|PMID:30371277 8723771 Actc1 actin alpha cardiac muscle 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:735789 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Left ventricular dilatation | ClinVar Annotator: match by term: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10966831|PMID:12860912|PMID:14729850|PMID:15058760|PMID:16267253|PMID:16611632|PMID:17611253|PMID:17623677|PMID:17916152|PMID:17947298|PMID:18379140|PMID:18400036|PMID:18506004|PMID:18519860|PMID:18801786|PMID:19184181|PMID:19467449|PMID:19799913|PMID:20497191|PMID:20965760|PMID:21297463|PMID:21524215|PMID:21551322|PMID:21622575|PMID:22464770|PMID:24033266|PMID:24503780|PMID:24736382|PMID:25201647|PMID:25741868|PMID:27532257|PMID:28416588|PMID:28492532|PMID:30371277|PMID:36252119|PMID:37342443 8723771 Actc1 actin alpha cardiac muscle 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:735789 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Left ventricular dilatation | ClinVar Annotator: match by term: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10966831|PMID:12860912|PMID:14729850|PMID:15058760|PMID:16267253|PMID:16611632|PMID:17611253|PMID:17623677|PMID:17916152|PMID:17947298|PMID:18379140|PMID:18400036|PMID:18506004|PMID:18519860|PMID:18801786|PMID:19184181|PMID:19467449|PMID:19799913|PMID:20497191|PMID:20965760|PMID:21297463|PMID:21524215|PMID:21551322|PMID:21622575|PMID:22464770|PMID:24033266|PMID:24503780|PMID:24736382|PMID:25201647|PMID:25741868|PMID:27532257|PMID:28416588|PMID:28492532|PMID:30371277|PMID:32720330|PMID:36252119|PMID:37342443 8723771 Actc1 actin alpha cardiac muscle 1 gene DOID:12930 dilated cardiomyopathy susceptibility ISO RGD:735789 D RGD:9068941 20200609 RGD DNA:point mutations: :p.Arg312His, p.Glu361Gly (human) PMID:9563954|REF_RGD_ID:1559158 8723771 Actc1 actin alpha cardiac muscle 1 gene DOID:1882 atrial heart septal defect ISO RGD:735789 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:28492532 8723771 Actc1 actin alpha cardiac muscle 1 gene DOID:2717 Bloom syndrome ISO RGD:735789 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8723771 Actc1 actin alpha cardiac muscle 1 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:735789 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern 8723771 Actc1 actin alpha cardiac muscle 1 gene DOID:397 restrictive cardiomyopathy ISO RGD:735789 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Familial restrictive cardiomyopathy PMID:28492532 8723771 Actc1 actin alpha cardiac muscle 1 gene DOID:630 genetic disease ISO RGD:735789 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266 8723771 Actc1 actin alpha cardiac muscle 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:735789 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19424620 8723771 Actc1 actin alpha cardiac muscle 1 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:735789 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:28492532 8723771 Actc1 actin alpha cardiac muscle 1 gene DOID:9005930 Endotoxemia ISO RGD:2026 D RGD:9068941 20200609 RGD PMID:11680626|REF_RGD_ID:1598729 8723771 Actc1 actin alpha cardiac muscle 1 gene DOID:9007288 Left Ventricular Noncompaction 1 ISO RGD:735789 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: LEFT VENTRICULAR NONCOMPACTION 1 WITH OR WITHOUT CONGENITAL HEART DEFECTS PMID:25741868|PMID:28416588|PMID:28492532|PMID:28798025|PMID:30471092|PMID:30847666|PMID:32880476|PMID:34088380|PMID:34935411 8723771 Actc1 actin alpha cardiac muscle 1 gene DOID:9256 colorectal cancer ISO RGD:735789 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8723771 Actc1 actin alpha cardiac muscle 1 gene DOID:9835 refractive error ISO RGD:735789 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20835239 8723782 Klhl5 kelch like family member 5 gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:1320120 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES PMID:28492532 8723782 Klhl5 kelch like family member 5 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1320120 D RGD:9068941 20240912 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 8723782 Klhl5 kelch like family member 5 gene DOID:9975 cocaine dependence susceptibility ISO RGD:1320120 D RGD:9068941 20231102 RGD DNA:SNP:: (rs1046655) (human) PMID:18438686|REF_RGD_ID:401851917 8723798 Rps15a ribosomal protein S15a gene DOID:0111891 Diamond-Blackfan anemia 20 ISO RGD:735975 D RGD:7240710 20190315 OMIM 8723798 Rps15a ribosomal protein S15a gene DOID:0111891 Diamond-Blackfan anemia 20 ISO RGD:735975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 20 PMID:27909223 8723813 Cerkl CERK like autophagy regulator gene DOID:0050572 cone-rod dystrophy ISO RGD:1346381 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:14681825|PMID:15708351|PMID:16199547|PMID:19578027|PMID:21151602|PMID:22164218|PMID:221642182|PMID:23591405|PMID:24043777|PMID:24123366|PMID:24625443|PMID:24705292|PMID:25097241|PMID:25525159|PMID:25741868|PMID:25999674|PMID:28041643|PMID:28157192|PMID:28492532|PMID:28559085|PMID:29068140|PMID:29555955|PMID:30337596|PMID:30718709|PMID:31054281|PMID:31082679|PMID:31456290|PMID:31589614|PMID:31964843|PMID:32036094|PMID:32037395|PMID:32411380|PMID:32531858|PMID:32581362|PMID:32865075|PMID:33322828|PMID:33576794|PMID:33749171|PMID:34315337|PMID:34426522|PMID:34758253|PMID:34906470|PMID:35119454|PMID:35456422|PMID:35836572|PMID:36460718|PMID:36819107|PMID:36909829 8723813 Cerkl CERK like autophagy regulator gene DOID:0050795 cone dystrophy ISO RGD:1346381 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:14681825|PMID:15708351|PMID:16199547|PMID:19578027|PMID:21151602|PMID:22164218|PMID:221642182|PMID:23591405|PMID:24043777|PMID:24123366|PMID:24625443|PMID:24705292|PMID:25097241|PMID:25525159|PMID:25741868|PMID:25999674|PMID:28041643|PMID:28157192|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29068140|PMID:29555955|PMID:30337596|PMID:30718709|PMID:31054281|PMID:31082679|PMID:31456290|PMID:31589614|PMID:31964843|PMID:32036094|PMID:32037395|PMID:32411380|PMID:32531858|PMID:32581362|PMID:32865075|PMID:33322828|PMID:33576794|PMID:33749171|PMID:33921607|PMID:34315337|PMID:34426522|PMID:34758253|PMID:34906470|PMID:35119454|PMID:35456422|PMID:36460718|PMID:36819107|PMID:36909829 8723813 Cerkl CERK like autophagy regulator gene DOID:0050817 Stargardt disease ISO RGD:1346381 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Stargardt disease PMID:14681825|PMID:16199547|PMID:23591405|PMID:24043777|PMID:25741868|PMID:27813578|PMID:28492532 8723813 Cerkl CERK like autophagy regulator gene DOID:0110368 retinitis pigmentosa 26 ISO RGD:1346381 D RGD:7240710 20180130 OMIM 8723813 Cerkl CERK like autophagy regulator gene DOID:0110368 retinitis pigmentosa 26 ISO RGD:1346381 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 26 PMID:14681825|PMID:15708351|PMID:16199547|PMID:17576681|PMID:18055789|PMID:18978954|PMID:19501188|PMID:19578027|PMID:19667359|PMID:20554613|PMID:21151602|PMID:22164218|PMID:221642182|PMID:23105016|PMID:23591405|PMID:23661369|PMID:24043777|PMID:24123366|PMID:24498393|PMID:24547929|PMID:24625443|PMID:24705292|PMID:24735978|PMID:24938718|PMID:25097241|PMID:25342276|PMID:25356976|PMID:25525159|PMID:25741868|PMID:25999674|PMID:26103963|PMID:26355662|PMID:26766544|PMID:27208204|PMID:27813578|PMID:27898983|PMID:28005406|PMID:28041643|PMID:28130426|PMID:28157192|PMID:28341476|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29068140|PMID:29074561|PMID:29555955|PMID:30029497|PMID:30054919|PMID:30337596|PMID:30718709|PMID:30902645|PMID:31054281|PMID:31082679|PMID:31106028|PMID:31456290|PMID:31589614|PMID:31736247|PMID:31816670|PMID:31964843|PMID:31980526|PMID:32036094|PMID:32037395|PMID:32411380|PMID:32531858|PMID:32581362|PMID:32865075|PMID:33090715|PMID:33322828|PMID:33576794|PMID:33749171|PMID:33921607|PMID:34315337|PMID:34426522|PMID:34758253|PMID:34906470|PMID:35119454|PMID:35318874|PMID:35456422|PMID:35836572|PMID:36460718|PMID:36819107|PMID:36909829|PMID:37331655|PMID:9536098 8723813 Cerkl CERK like autophagy regulator gene DOID:10584 retinitis pigmentosa ISO RGD:1346381 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:14681825|PMID:15708351|PMID:16199547|PMID:17576681|PMID:18055789|PMID:18978954|PMID:19501188|PMID:19578027|PMID:20554613|PMID:21151602|PMID:22164218|PMID:221642182|PMID:23105016|PMID:23591405|PMID:24043777|PMID:24123366|PMID:24498393|PMID:24547929|PMID:24625443|PMID:24705292|PMID:24735978|PMID:25097241|PMID:25342276|PMID:25525159|PMID:25741868|PMID:25999674|PMID:26355662|PMID:27208204|PMID:28041643|PMID:28157192|PMID:28341476|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29068140|PMID:29074561|PMID:29555955|PMID:30054919|PMID:30337596|PMID:30718709|PMID:31054281|PMID:31082679|PMID:31456290|PMID:31589614|PMID:31816670|PMID:31964843|PMID:32036094|PMID:32037395|PMID:32411380|PMID:32531858|PMID:32581362|PMID:32865075|PMID:33322828|PMID:33576794|PMID:33749171|PMID:33921607|PMID:34315337|PMID:34426522|PMID:34758253|PMID:34906470|PMID:35119454|PMID:35318874|PMID:35456422|PMID:36460718|PMID:36819107|PMID:36909829|PMID:9536098 8723813 Cerkl CERK like autophagy regulator gene DOID:10584 retinitis pigmentosa susceptibility ISO RGD:1346381 D RGD:9068941 20200609 RGD DNA:mutation:exon PMID:14681825|REF_RGD_ID:1600829 8723813 Cerkl CERK like autophagy regulator gene DOID:4448 macular degeneration ISO RGD:1346381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:25741868 8723813 Cerkl CERK like autophagy regulator gene DOID:630 genetic disease ISO RGD:1346381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8723813 Cerkl CERK like autophagy regulator gene DOID:8501 fundus dystrophy ISO RGD:1346381 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:14681825|PMID:15708351|PMID:16199547|PMID:18978954|PMID:19501188|PMID:19578027|PMID:20554613|PMID:21151602|PMID:22164218|PMID:221642182|PMID:23591405|PMID:23661369|PMID:24043777|PMID:24123366|PMID:24498393|PMID:24625443|PMID:24705292|PMID:24735978|PMID:25097241|PMID:25356976|PMID:25525159|PMID:25741868|PMID:25999674|PMID:26103963|PMID:27208204|PMID:28005406|PMID:28041643|PMID:28130426|PMID:28157192|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29068140|PMID:29074561|PMID:29555955|PMID:30337596|PMID:30718709|PMID:31054281|PMID:31082679|PMID:31106028|PMID:31456290|PMID:31589614|PMID:31816670|PMID:31964843|PMID:31980526|PMID:32036094|PMID:32037395|PMID:32411380|PMID:32531858|PMID:32581362|PMID:32865075|PMID:33090715|PMID:33322828|PMID:33576794|PMID:33749171|PMID:34315337|PMID:34426522|PMID:34662339|PMID:34758253|PMID:34906470|PMID:35119454|PMID:35318874|PMID:35456422|PMID:35836572|PMID:36460718|PMID:36819107|PMID:36909829 8723832 Ddx3x DEAD-box helicase 3 X-linked gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1352934 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Chemke syndrome PMID:25741868|PMID:28492532 8723832 Ddx3x DEAD-box helicase 3 X-linked gene DOID:0050902 medulloblastoma ISO RGD:1352934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Medulloblastoma PMID:26822237 8723832 Ddx3x DEAD-box helicase 3 X-linked gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8723832 Ddx3x DEAD-box helicase 3 X-linked gene DOID:0060806 syndromic X-linked intellectual disability Hedera type ISO RGD:1352934 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type PMID:23901204|PMID:26235985|PMID:28492532 8723832 Ddx3x DEAD-box helicase 3 X-linked gene DOID:0060807 syndromic X-linked intellectual disability Najm type ISO RGD:1352934 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked PMID:23901204|PMID:28492532 8723832 Ddx3x DEAD-box helicase 3 X-linked gene DOID:0060809 syndromic X-linked intellectual disability Claes-Jensen type ISO RGD:1352934 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Claes-Jensen type PMID:2563148|PMID:25741868|PMID:26235985 8723832 Ddx3x DEAD-box helicase 3 X-linked gene DOID:0070338 cerebellar hypoplasia ISO RGD:1352934 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:25741868|PMID:26235985|PMID:28135719|PMID:28492532|PMID:31474318 8723832 Ddx3x DEAD-box helicase 3 X-linked gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:1352934 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192917 8723832 Ddx3x DEAD-box helicase 3 X-linked gene DOID:1059 intellectual disability ISO RGD:1352934 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:26235985|PMID:28492532|PMID:30349862|PMID:32165824|PMID:34008892 8723832 Ddx3x DEAD-box helicase 3 X-linked gene DOID:1059 intellectual disability ISO RGD:1352934 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:26235985|PMID:28492532|PMID:30349862|PMID:34008892 8723832 Ddx3x DEAD-box helicase 3 X-linked gene DOID:12849 autistic disorder ISO RGD:1352934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8723832 Ddx3x DEAD-box helicase 3 X-linked gene DOID:1612 breast cancer exacerbates ISO RGD:1352934 D RGD:9068941 20220210 RGD protein:increased expression:breast, nucleus (human) PMID:28761359|REF_RGD_ID:151356502 8723832 Ddx3x DEAD-box helicase 3 X-linked gene DOID:1790 malignant mesothelioma ISO RGD:1352934 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:26928227 8723832 Ddx3x DEAD-box helicase 3 X-linked gene DOID:1826 epilepsy ISO RGD:1352934 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 8723832 Ddx3x DEAD-box helicase 3 X-linked gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1352934 D RGD:9068941 20230706 CTD CTD Direct Evidence: marker/mechanism PMID:24183723 8723832 Ddx3x DEAD-box helicase 3 X-linked gene DOID:630 genetic disease ISO RGD:1352934 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12535527|PMID:16199547|PMID:17576681|PMID:17631897|PMID:25533962|PMID:2563148|PMID:25741868|PMID:26235985|PMID:26598523|PMID:27479843|PMID:28135719|PMID:28333917|PMID:28371085|PMID:28492532|PMID:29490693|PMID:30125339|PMID:30349862|PMID:30734472|PMID:30817323|PMID:31618753|PMID:32135084|PMID:32371413|PMID:33149276|PMID:33504798|PMID:33993884|PMID:34356170|PMID:9536098 8723832 Ddx3x DEAD-box helicase 3 X-linked gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1557808 D RGD:9068941 20220210 RGD PMID:30297359|REF_RGD_ID:151356499 8723832 Ddx3x DEAD-box helicase 3 X-linked gene DOID:684 hepatocellular carcinoma sexual_dimorphism ISO RGD:1352934 D RGD:9068941 20220210 RGD associated with hepatitis B; mRNA,protein:decreased expression:liver (human) PMID:16301996|REF_RGD_ID:151356660 8723832 Ddx3x DEAD-box helicase 3 X-linked gene DOID:8398 osteoarthritis ISO RGD:1352934 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 8723832 Ddx3x DEAD-box helicase 3 X-linked gene DOID:8649 tongue cancer ameliorates ISO RGD:1557808 D RGD:9068941 20220210 RGD PMID:25918862|REF_RGD_ID:151356506 8723832 Ddx3x DEAD-box helicase 3 X-linked gene DOID:9000965 Neoplasm Metastasis ISO RGD:1352934 D RGD:9068941 20220210 RGD human cells in mouse model PMID:26087195|REF_RGD_ID:11096798 8723832 Ddx3x DEAD-box helicase 3 X-linked gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1352934 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum 8723832 Ddx3x DEAD-box helicase 3 X-linked gene DOID:9002789 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE ISO RGD:1352934 D RGD:7240710 20180130 OMIM 8723832 Ddx3x DEAD-box helicase 3 X-linked gene DOID:9002789 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE ISO RGD:1352934 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: DDX3X-related X-linked intellectual disability | ClinVar Annotator: match by term: DDX3X-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE | ClinVar Annotator: match by term: X-linked intellectual disability-hypotonia-movement disorder syndrome PMID:16199547|PMID:17576681|PMID:18414213|PMID:25533962|PMID:2563148|PMID:25741868|PMID:25741895|PMID:26235985|PMID:26598523|PMID:27159028|PMID:28135719|PMID:28371085|PMID:28492532|PMID:29490693|PMID:30125339|PMID:30349862|PMID:30734472|PMID:30817323|PMID:30936465|PMID:31274575|PMID:31474318|PMID:31618753|PMID:31785789|PMID:32135084|PMID:32371413|PMID:32600431|PMID:32714884|PMID:33057194|PMID:33149276|PMID:33461977|PMID:33504798|PMID:33692367|PMID:33993884|PMID:34008892|PMID:34356170|PMID:35392274|PMID:35982159|PMID:36434914|PMID:36474027|PMID:38177409|PMID:39825153|PMID:9536098 8723832 Ddx3x DEAD-box helicase 3 X-linked gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352934 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:26235985|PMID:28492532|PMID:32135084 8723832 Ddx3x DEAD-box helicase 3 X-linked gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1352934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 8723832 Ddx3x DEAD-box helicase 3 X-linked gene DOID:9008086 Developmental Disabilities ISO RGD:1352934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:25741895 8723832 Ddx3x DEAD-box helicase 3 X-linked gene DOID:9256 colorectal cancer ISO RGD:1352934 D RGD:9068941 20220210 RGD protein:increased expression:colorectum (human) PMID:31391454|REF_RGD_ID:151356658 8723832 Ddx3x DEAD-box helicase 3 X-linked gene DOID:9256 colorectal cancer ameliorates ISO RGD:1352934 D RGD:9068941 20220210 RGD human cells in mouse model PMID:31391454|REF_RGD_ID:151356658 8723832 Ddx3x DEAD-box helicase 3 X-linked gene DOID:9256 colorectal cancer exacerbates ISO RGD:1352934 D RGD:9068941 20220210 RGD protein:increased expression:colorectum (human) PMID:26892600|PMID:27007150|REF_RGD_ID:151356503|REF_RGD_ID:151356505 8723832 Ddx3x DEAD-box helicase 3 X-linked gene DOID:9256 colorectal cancer exacerbates ISO RGD:1352934 D RGD:9068941 20220210 RGD protein:increased expression:colorectum, nucleus (human) PMID:28761359|REF_RGD_ID:151356502 8723832 Ddx3x DEAD-box helicase 3 X-linked gene DOID:9256 colorectal cancer treatment ISO RGD:1352934 D RGD:9068941 20220210 RGD PMID:26087195|REF_RGD_ID:11096798 8723867 Cd207 CD207 molecule gene DOID:543 dystonia ISO RGD:1347897 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8723867 Cd207 CD207 molecule gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1347897 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8723885 B9d1 B9 domain containing 1 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1602004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:25741868 8723885 B9d1 B9 domain containing 1 gene DOID:0050777 Joubert syndrome ISO RGD:1602004 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:17576681|PMID:24886560|PMID:25741868|PMID:26092869|PMID:28492532|PMID:30055837|PMID:32622957|PMID:34906502|PMID:9536098 8723885 B9d1 B9 domain containing 1 gene DOID:0050778 Meckel syndrome ISO RGD:1602004 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:17576681|PMID:25741868|PMID:28492532|PMID:32622957|PMID:34906502|PMID:9536098 8723885 B9d1 B9 domain containing 1 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1602004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 8723885 B9d1 B9 domain containing 1 gene DOID:0070115 Meckel syndrome 1 ISO RGD:1602004 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Dysencephalia splachnocystica PMID:17576681|PMID:25741868|PMID:28492532|PMID:32622957|PMID:34906502|PMID:9536098 8723885 B9d1 B9 domain containing 1 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1602004 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 8723885 B9d1 B9 domain containing 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1602004 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:16007087|PMID:17576681|PMID:21493627|PMID:24886560|PMID:25741868|PMID:25920555|PMID:26092869|PMID:26477546|PMID:27123465|PMID:28492532|PMID:32622957|PMID:34906502|PMID:9536098 8723885 B9d1 B9 domain containing 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1602004 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:17576681|PMID:21493627|PMID:24886560|PMID:25741868|PMID:25920555|PMID:26092869|PMID:26477546|PMID:28492532|PMID:32622957|PMID:34906502|PMID:9536098 8723885 B9d1 B9 domain containing 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1602004 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:16199547|PMID:17576681|PMID:21493627|PMID:24886560|PMID:25741868|PMID:25920555|PMID:26092869|PMID:26477546|PMID:28492532|PMID:32622957|PMID:34906502|PMID:9536098 8723885 B9d1 B9 domain containing 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1602004 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:16199547|PMID:17576681|PMID:21493627|PMID:24886560|PMID:25741868|PMID:25920555|PMID:26092869|PMID:26477546|PMID:28492532|PMID:29165578|PMID:30055837|PMID:32622957|PMID:34906502|PMID:9536098 8723885 B9d1 B9 domain containing 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1602004 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:16199547|PMID:17576681|PMID:21493627|PMID:24886560|PMID:25741868|PMID:25920555|PMID:26092869|PMID:26477546|PMID:28492532|PMID:29165578|PMID:30055837|PMID:32622957|PMID:34906502|PMID:36180924|PMID:9536098 8723885 B9d1 B9 domain containing 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1602004 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:16199547|PMID:17576681|PMID:21493627|PMID:24886560|PMID:25741868|PMID:25920555|PMID:26092869|PMID:26477546|PMID:27854218|PMID:28492532|PMID:29165578|PMID:30055837|PMID:32622957|PMID:34906502|PMID:36180924|PMID:9536098 8723885 B9d1 B9 domain containing 1 gene DOID:0110996 Joubert Syndrome 27 ISO RGD:1602004 D RGD:7240710 20190315 OMIM 8723885 B9d1 B9 domain containing 1 gene DOID:0110996 Joubert Syndrome 27 ISO RGD:1602004 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Joubert syndrome 27 PMID:17576681|PMID:21493627|PMID:24886560|PMID:25741868|PMID:25920555|PMID:26092869|PMID:26477546|PMID:28492532|PMID:29165578|PMID:30055837|PMID:32622957|PMID:34906502|PMID:36180924|PMID:9536098 8723885 B9d1 B9 domain containing 1 gene DOID:12849 autistic disorder ISO RGD:1602004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8723885 B9d1 B9 domain containing 1 gene DOID:630 genetic disease ISO RGD:1602004 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8723885 B9d1 B9 domain containing 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1602004 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8723885 B9d1 B9 domain containing 1 gene DOID:9001634 Meckel Syndrome 9 ISO RGD:1602004 D RGD:7240710 20180130 OMIM 8723885 B9d1 B9 domain containing 1 gene DOID:9001634 Meckel Syndrome 9 ISO RGD:1602004 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 9 PMID:21493627|PMID:24886560|PMID:25741868|PMID:26092869|PMID:28492532|PMID:30055837 8723885 B9d1 B9 domain containing 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602004 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 8723911 Ttc34 tetratricopeptide repeat domain 34 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:2293894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8723911 Ttc34 tetratricopeptide repeat domain 34 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:2293894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8723911 Ttc34 tetratricopeptide repeat domain 34 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:2293894 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:23892090|PMID:28492532|PMID:31602316 8723911 Ttc34 tetratricopeptide repeat domain 34 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:2293894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 8723911 Ttc34 tetratricopeptide repeat domain 34 gene DOID:0110994 Joubert syndrome 25 ISO RGD:2293894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8723911 Ttc34 tetratricopeptide repeat domain 34 gene DOID:0111934 immunodeficiency 38 ISO RGD:2293894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8723911 Ttc34 tetratricopeptide repeat domain 34 gene DOID:0111935 immunodeficiency 16 ISO RGD:2293894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8723911 Ttc34 tetratricopeptide repeat domain 34 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2293894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8723911 Ttc34 tetratricopeptide repeat domain 34 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:2293894 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:23892090|PMID:28492532|PMID:31602316 8723911 Ttc34 tetratricopeptide repeat domain 34 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:2293894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8723925 Fbp2 fructose-bisphosphatase 2 gene DOID:12642 hiatus hernia ISO RGD:732425 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hiatus hernia 8723925 Fbp2 fructose-bisphosphatase 2 gene DOID:5204 fructose-1,6-bisphosphatase deficiency ISO RGD:732425 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Fructose-biphosphatase deficiency PMID:23881342|PMID:27101822|PMID:28492532|PMID:29016355|PMID:29774539 8723925 Fbp2 fructose-bisphosphatase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732425 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8723925 Fbp2 fructose-bisphosphatase 2 gene DOID:9004590 Acute Liver Failure ISO RGD:732425 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:35172013 8723925 Fbp2 fructose-bisphosphatase 2 gene DOID:9005894 Childhood-Onset Remitting Leukodystrophy ISO RGD:732425 D RGD:7240710 20220518 OMIM 8723925 Fbp2 fructose-bisphosphatase 2 gene DOID:9005894 Childhood-Onset Remitting Leukodystrophy ISO RGD:732425 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Leukodystrophy, childhood-onset, remitting PMID:25741868|PMID:33977262 8723945 Prrx1 paired related homeobox 1 gene DOID:0060224 atrial fibrillation ISO RGD:1606834 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22544366 8723945 Prrx1 paired related homeobox 1 gene DOID:0060341 agnathia-otocephaly complex ISO RGD:1606834 D RGD:7240710 20180130 OMIM 8723945 Prrx1 paired related homeobox 1 gene DOID:0060341 agnathia-otocephaly complex ISO RGD:1606834 D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: Agnathia-otocephaly complex | ClinVar Annotator: match by term: PRRX1-related condition PMID:12244557|PMID:21294718|PMID:22211708|PMID:22674740|PMID:23444262|PMID:25741868|PMID:28492532 8723945 Prrx1 paired related homeobox 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1606834 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8723945 Prrx1 paired related homeobox 1 gene DOID:3213 demyelinating disease ISO RGD:1606834 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30566868 8723945 Prrx1 paired related homeobox 1 gene DOID:630 genetic disease ISO RGD:1606834 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8723945 Prrx1 paired related homeobox 1 gene DOID:9001031 Retrognathia ISO RGD:1606834 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23444262 8723945 Prrx1 paired related homeobox 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1606834 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19208208 8723945 Prrx1 paired related homeobox 1 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1606834 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 8723945 Prrx1 paired related homeobox 1 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:1606834 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:21294718|PMID:22211708|PMID:22674740|PMID:23444262|PMID:25741868|PMID:37154149 8723945 Prrx1 paired related homeobox 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606834 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8723970 Mepce methylphosphate capping enzyme gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603022 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8723979 Afg2a AFG2 AAA ATPase homolog A gene DOID:1826 epilepsy ISO RGD:1321404 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizures 8723979 Afg2a AFG2 AAA ATPase homolog A gene DOID:5419 schizophrenia ISO RGD:1321404 D RGD:9068941 20240912 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 8723979 Afg2a AFG2 AAA ATPase homolog A gene DOID:630 genetic disease ISO RGD:1321404 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:25741868|PMID:26299366|PMID:28293831|PMID:28492532 8723979 Afg2a AFG2 AAA ATPase homolog A gene DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities ISO RGD:1321404 D RGD:7240710 20180130 OMIM 8723979 Afg2a AFG2 AAA ATPase homolog A gene DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities ISO RGD:1321404 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES PMID:16199547|PMID:17576681|PMID:25640679|PMID:25741868|PMID:26299366|PMID:26467025|PMID:27683084|PMID:28293831|PMID:28492532|PMID:28513609|PMID:29343804|PMID:29389922|PMID:30552426|PMID:31440721|PMID:31912665|PMID:33528536|PMID:35012964|PMID:37471090|PMID:9536098 8723979 Afg2a AFG2 AAA ATPase homolog A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321404 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:26299366|PMID:28492532|PMID:28513609|PMID:31440721|PMID:33528536 8724002 Btbd1 BTB domain containing 1 gene DOID:13938 amenorrhea ISO RGD:1322160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8724002 Btbd1 BTB domain containing 1 gene DOID:2717 Bloom syndrome ISO RGD:1322160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8724002 Btbd1 BTB domain containing 1 gene DOID:9008456 Delayed Emergence from Anesthesia ISO RGD:1322160 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16115977 8724002 Btbd1 BTB domain containing 1 gene DOID:9256 colorectal cancer ISO RGD:1322160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8724032 Apln apelin gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:1351986 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:17436253|PMID:24357419|PMID:28492532 8724032 Apln apelin gene DOID:0060180 colitis ISO RGD:1332289 D RGD:9068941 20200609 RGD PMID:17391779|REF_RGD_ID:1626177 8724032 Apln apelin gene DOID:0060180 colitis ISO RGD:620672 D RGD:9068941 20200609 RGD PMID:17391779|REF_RGD_ID:1626177 8724032 Apln apelin gene DOID:0060224 atrial fibrillation ISO RGD:1351986 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:16278229|REF_RGD_ID:1626174 8724032 Apln apelin gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8724032 Apln apelin gene DOID:0060824 syndromic X-linked intellectual disability Raymond type ISO RGD:1351986 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Raymond type PMID:17436253|PMID:22796527|PMID:24357419|PMID:28492532 8724032 Apln apelin gene DOID:0111823 autosomal hemophilia A ISO RGD:1351986 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A PMID:31690835 8724032 Apln apelin gene DOID:1056 oculocerebrorenal syndrome ISO RGD:1351986 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lowe syndrome PMID:22965764|PMID:28492532 8724032 Apln apelin gene DOID:10763 hypertension ISO RGD:620672 D RGD:9068941 20200609 RGD mRNA:decreased expression:aorta, heart PMID:15664402|REF_RGD_ID:1626176 8724032 Apln apelin gene DOID:11981 morbid obesity ISO RGD:1351986 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:19756893|REF_RGD_ID:2313938 8724032 Apln apelin gene DOID:11981 morbid obesity ISO RGD:1351986 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:15970339|REF_RGD_ID:1600932 8724032 Apln apelin gene DOID:12134 factor VIII deficiency ISO RGD:1351986 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Factor 8 deficiency, congenital PMID:31690835 8724032 Apln apelin gene DOID:12849 autistic disorder ISO RGD:1351986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8724032 Apln apelin gene DOID:1920 hyperuricemia ISO RGD:1351986 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:30710622 8724032 Apln apelin gene DOID:4248 coronary stenosis ISO RGD:1351986 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:19015606|REF_RGD_ID:2313942 8724032 Apln apelin gene DOID:6000 congestive heart failure ISO RGD:1351986 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:16263185|REF_RGD_ID:1626175 8724032 Apln apelin gene DOID:6000 congestive heart failure ISO RGD:620672 D RGD:9068941 20200609 RGD associated with Hypertension, Pulmonary PMID:17055480|REF_RGD_ID:1626171 8724032 Apln apelin gene DOID:6000 congestive heart failure ISO RGD:620672 D RGD:9068941 20200609 RGD protein:increased expression:ventricle myocardium PMID:17119870|REF_RGD_ID:1626186 8724032 Apln apelin gene DOID:6432 pulmonary hypertension ISO RGD:1351986 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:16263185|REF_RGD_ID:1626175 8724032 Apln apelin gene DOID:684 hepatocellular carcinoma ISO RGD:1351986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8724032 Apln apelin gene DOID:8577 ulcerative colitis ISO RGD:1351986 D RGD:9068941 20200609 RGD protein:increased expression:intestine PMID:17391779|REF_RGD_ID:1626177 8724032 Apln apelin gene DOID:8778 Crohn's disease ISO RGD:1351986 D RGD:9068941 20200609 RGD protein:increased expression:intestine PMID:17391779|REF_RGD_ID:1626177 8724032 Apln apelin gene DOID:9000784 Fibrosis ISO RGD:1351986 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:30634441 8724032 Apln apelin gene DOID:9001820 Pulmonary Arterial Hypertension treatment ISO RGD:1332289 D RGD:9068941 20230608 RGD PMID:23867624|REF_RGD_ID:329848996 8724032 Apln apelin gene DOID:9003936 Cardiomegaly ISO RGD:1351986 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:30634441 8724032 Apln apelin gene DOID:9003936 Cardiomegaly ISO RGD:620672 D RGD:9068941 20200609 RGD associated with Hypertension;protein:decreased expression:plasma, aorta, ventricle myocardium PMID:16674982|REF_RGD_ID:1626173 8724032 Apln apelin gene DOID:9006024 Hypotension ISO RGD:1351986 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:30634441 8724032 Apln apelin gene DOID:9007692 Insulin Resistance ISO RGD:620672 D RGD:9068941 20200609 RGD mRNA:increased expression:subcutaneous adipose tissue PMID:17594060|REF_RGD_ID:1626170 8724032 Apln apelin gene DOID:9352 type 2 diabetes mellitus ISO RGD:1351986 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:18484561|REF_RGD_ID:2313944 8724032 Apln apelin gene DOID:9775 diastolic heart failure ISO RGD:1351986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 8724032 Apln apelin gene DOID:9970 obesity ISO RGD:620672 D RGD:9068941 20200609 RGD mRNA:increased expression:subcutaneous adipose tissue PMID:17594060|REF_RGD_ID:1626170 8724047 Ino80d INO80 complex subunit D gene DOID:11372 megacolon ISO RGD:1606537 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8724047 Ino80d INO80 complex subunit D gene DOID:14557 primary pulmonary hypertension ISO RGD:1606537 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 8724047 Ino80d INO80 complex subunit D gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606537 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8724068 Crybb1 crystallin beta B1 gene DOID:0110270 cataract 17 multiple types ISO RGD:731502 D RGD:7240710 20180130 OMIM 8724068 Crybb1 crystallin beta B1 gene DOID:0110270 cataract 17 multiple types ISO RGD:731502 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Cataract 17 multiple types PMID:12360425|PMID:16110300|PMID:17460281|PMID:17576681|PMID:20565250|PMID:21402992|PMID:21972112|PMID:25086334|PMID:25741868|PMID:28492532|PMID:32854469|PMID:33223529|PMID:36980880|PMID:9536098 8724068 Crybb1 crystallin beta B1 gene DOID:0110271 cataract 23 ISO RGD:731502 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cataract 23 PMID:28492532 8724068 Crybb1 crystallin beta B1 gene DOID:5419 schizophrenia ISO RGD:731502 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 8724068 Crybb1 crystallin beta B1 gene DOID:630 genetic disease ISO RGD:731502 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:36980880 8724068 Crybb1 crystallin beta B1 gene DOID:83 cataract ISO RGD:731502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:25741868|PMID:26694549|PMID:28272538 8724078 Dusp28 dual specificity phosphatase 28 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1605823 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8724078 Dusp28 dual specificity phosphatase 28 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1605823 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8724078 Dusp28 dual specificity phosphatase 28 gene DOID:0111670 primary hyperoxaluria type 1 ISO RGD:1605823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:22821680 8724078 Dusp28 dual specificity phosphatase 28 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1605823 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 8724078 Dusp28 dual specificity phosphatase 28 gene DOID:1059 intellectual disability ISO RGD:1605823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8724078 Dusp28 dual specificity phosphatase 28 gene DOID:2377 multiple sclerosis ISO RGD:1605823 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31068361 8724078 Dusp28 dual specificity phosphatase 28 gene DOID:9001550 Bethlem Myopathy 1A ISO RGD:1605823 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1A PMID:26004199|PMID:28492532 8724084 Siah2 siah E3 ubiquitin protein ligase 2 gene DOID:0050579 glycogen storage disease XV ISO RGD:734303 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 8724084 Siah2 siah E3 ubiquitin protein ligase 2 gene DOID:110 lens disease ISO RGD:734303 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24282676 8724176 Gadl1 glutamate decarboxylase like 1 gene DOID:13938 amenorrhea ISO RGD:1351528 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8724176 Gadl1 glutamate decarboxylase like 1 gene DOID:9007188 Liver Neoplasms ISO RGD:1351528 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 8724212 Chd9 chromodomain helicase DNA binding protein 9 gene DOID:9008870 Chromosome 16q12 Duplication Syndrome ISO RGD:1315612 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome PMID:25741868 8724276 Nr2f2 nuclear receptor subfamily 2 group F member 2 gene DOID:0080943 46,XX sex reversal 5 ISO RGD:735361 D RGD:7240710 20200701 OMIM 8724276 Nr2f2 nuclear receptor subfamily 2 group F member 2 gene DOID:0080943 46,XX sex reversal 5 ISO RGD:735361 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 46,xx sex reversal 5 PMID:25741868|PMID:27363585|PMID:29478779 8724276 Nr2f2 nuclear receptor subfamily 2 group F member 2 gene DOID:10763 hypertension ISO RGD:69305 D RGD:9068941 20200609 RGD PMID:25687237|REF_RGD_ID:10401852 8724276 Nr2f2 nuclear receptor subfamily 2 group F member 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:735362 D RGD:9068941 20240425 MouseDO 8724276 Nr2f2 nuclear receptor subfamily 2 group F member 2 gene DOID:289 endometriosis ISO RGD:735361 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 8724276 Nr2f2 nuclear receptor subfamily 2 group F member 2 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:735362 D RGD:9068941 20220825 MouseDO OMIM:142340 | OMIM:222400 | OMIM:610187 8724276 Nr2f2 nuclear receptor subfamily 2 group F member 2 gene DOID:630 genetic disease ISO RGD:735361 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:29222010|PMID:32719394 8724276 Nr2f2 nuclear receptor subfamily 2 group F member 2 gene DOID:9002809 Congenital Heart Defects, Multiple Types, 4 ISO RGD:735361 D RGD:7240710 20180130 OMIM 8724276 Nr2f2 nuclear receptor subfamily 2 group F member 2 gene DOID:9002809 Congenital Heart Defects, Multiple Types, 4 ISO RGD:735361 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Congenital heart defects, multiple types, 4 PMID:10215630|PMID:24702954|PMID:25741868|PMID:27363585|PMID:28492532|PMID:29222010|PMID:29478779|PMID:29570242|PMID:29663647|PMID:30720060|PMID:37500725 8724276 Nr2f2 nuclear receptor subfamily 2 group F member 2 gene DOID:9003735 Splenic Hypoplasia ISO RGD:735361 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Asplenia PMID:24702954|PMID:25741868 8724276 Nr2f2 nuclear receptor subfamily 2 group F member 2 gene DOID:9003766 46, XY Disorders of Sex Development ISO RGD:735361 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: 46,XY disorder of sex development 8724276 Nr2f2 nuclear receptor subfamily 2 group F member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735361 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532 8724276 Nr2f2 nuclear receptor subfamily 2 group F member 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735361 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 8724276 Nr2f2 nuclear receptor subfamily 2 group F member 2 gene DOID:9007456 Female Infertility ISO RGD:735361 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17590085 8724276 Nr2f2 nuclear receptor subfamily 2 group F member 2 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:735361 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17436238 8724293 Sfn stratifin gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1312341 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 8724293 Sfn stratifin gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:1312341 D RGD:9068941 20211126 RGD protein:increased expression:urothelium (human) PMID:17645415|REF_RGD_ID:2299928 8724293 Sfn stratifin gene DOID:1749 squamous cell carcinoma ISO RGD:1312341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 8724293 Sfn stratifin gene DOID:2101 vulva squamous cell carcinoma ISO RGD:1312341 D RGD:9068941 20200609 RGD DNA, mRNA:hypermethylation, decreased expression:vulva PMID:11896620|REF_RGD_ID:2299936 8724293 Sfn stratifin gene DOID:2394 ovarian cancer ISO RGD:1312341 D RGD:9068941 20200609 RGD mRNA:increased expression:ovary PMID:16773180|REF_RGD_ID:2299930 8724293 Sfn stratifin gene DOID:2394 ovarian cancer disease_progression ISO RGD:1312341 D RGD:9068941 20200609 RGD PMID:15102672|REF_RGD_ID:2299933 8724293 Sfn stratifin gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:1312341 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:16964403|REF_RGD_ID:2299929 8724293 Sfn stratifin gene DOID:2871 endometrial carcinoma ISO RGD:1312341 D RGD:9068941 20200609 RGD PMID:16271083|REF_RGD_ID:2299931 8724293 Sfn stratifin gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1312341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 8724293 Sfn stratifin gene DOID:3910 lung adenocarcinoma ISO RGD:1312341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19381893 8724293 Sfn stratifin gene DOID:684 hepatocellular carcinoma ISO RGD:1312341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 8724293 Sfn stratifin gene DOID:8719 in situ carcinoma ISO RGD:1312341 D RGD:9068941 20200609 RGD mRNA:decreased expression:vulva PMID:11896620|REF_RGD_ID:2299936 8724293 Sfn stratifin gene DOID:9000058 Keloid ISO RGD:1312341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 8724293 Sfn stratifin gene DOID:9000081 Lymphatic Metastasis ISO RGD:1312341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19381893 8724293 Sfn stratifin gene DOID:9000117 Esophageal Neoplasms ISO RGD:1312341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15986332 8724293 Sfn stratifin gene DOID:9007364 Mouth Neoplasms ISO RGD:1312341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 8724298 Ccdc51 coiled-coil domain containing 51 gene DOID:8501 fundus dystrophy ISO RGD:1602866 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868 8724298 Ccdc51 coiled-coil domain containing 51 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1602866 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 8724309 Hsf5 heat shock transcription factor 5 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1604244 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 8724309 Hsf5 heat shock transcription factor 5 gene DOID:0111096 Fanconi anemia complementation group O ISO RGD:1604244 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group O PMID:28492532 8724309 Hsf5 heat shock transcription factor 5 gene DOID:1059 intellectual disability ISO RGD:1604244 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:37071997 8724309 Hsf5 heat shock transcription factor 5 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1604244 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 PMID:38922859 8724324 Ptpn5 protein tyrosine phosphatase non-receptor type 5 gene DOID:0110318 hypertrophic cardiomyopathy 12 ISO RGD:736589 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 PMID:12642359|PMID:14567970|PMID:16352453|PMID:20087448|PMID:28492532|PMID:34558151 8724324 Ptpn5 protein tyrosine phosphatase non-receptor type 5 gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:736589 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 8724324 Ptpn5 protein tyrosine phosphatase non-receptor type 5 gene DOID:1059 intellectual disability ISO RGD:736589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8724324 Ptpn5 protein tyrosine phosphatase non-receptor type 5 gene DOID:10652 Alzheimer's disease ISO RGD:736589 D RGD:9068941 20200609 RGD protein:increased expression:prefrontal cortex (human) PMID:20427654|REF_RGD_ID:9835008 8724324 Ptpn5 protein tyrosine phosphatase non-receptor type 5 gene DOID:10652 Alzheimer's disease ISO RGD:736590 D RGD:9068941 20200609 RGD protein:increased expression:dentate gyrus (mouse) PMID:16237174|REF_RGD_ID:10044037 8724324 Ptpn5 protein tyrosine phosphatase non-receptor type 5 gene DOID:10652 Alzheimer's disease severity ISO RGD:736590 D RGD:9068941 20200609 RGD PMID:20956308|REF_RGD_ID:9835007 8724324 Ptpn5 protein tyrosine phosphatase non-receptor type 5 gene DOID:224 transient cerebral ischemia ISO RGD:3448 D RGD:9068941 20200609 RGD protein:decreased phosphorylation, decreased expression:striatum (rat) PMID:24198371|REF_RGD_ID:9835010 8724324 Ptpn5 protein tyrosine phosphatase non-receptor type 5 gene DOID:224 transient cerebral ischemia severity ISO RGD:736590 D RGD:9068941 20200609 RGD PMID:24198371|REF_RGD_ID:9835010 8724324 Ptpn5 protein tyrosine phosphatase non-receptor type 5 gene DOID:224 transient cerebral ischemia treatment ISO RGD:3448 D RGD:9068941 20200609 RGD PMID:24198371|REF_RGD_ID:9835010 8724324 Ptpn5 protein tyrosine phosphatase non-receptor type 5 gene DOID:9002955 Nerve Degeneration ISO RGD:736589 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17360923 8724324 Ptpn5 protein tyrosine phosphatase non-receptor type 5 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:3448 D RGD:9068941 20200609 RGD STEP33;protein:increased expression:forebrain (rat) PMID:10537057|REF_RGD_ID:9835021 8724324 Ptpn5 protein tyrosine phosphatase non-receptor type 5 gene DOID:9008091 Optic Nerve Injuries ISO RGD:3448 D RGD:9068941 20200609 RGD protein:increased expression:retina (rat) PMID:15555919|REF_RGD_ID:9835027 8724348 Selenot selenoprotein T gene DOID:0050579 glycogen storage disease XV ISO RGD:1602000 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 8724363 Pard6a par-6 family cell polarity regulator alpha gene DOID:0060401 chromosome 16q22 deletion syndrome ISO RGD:1345737 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome PMID:25741868 8724363 Pard6a par-6 family cell polarity regulator alpha gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1345737 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8724363 Pard6a par-6 family cell polarity regulator alpha gene DOID:9008870 Chromosome 16q12 Duplication Syndrome ISO RGD:1345737 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome PMID:25741868 8724387 Vangl1 VANGL planar cell polarity protein 1 gene DOID:0050700 cardiomyopathy ISO RGD:1319967 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 8724387 Vangl1 VANGL planar cell polarity protein 1 gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:1319967 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Catecholamine-induced polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:24033266|PMID:25741868|PMID:28492532 8724387 Vangl1 VANGL planar cell polarity protein 1 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1319967 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:24033266|PMID:25741868|PMID:28492532 8724387 Vangl1 VANGL planar cell polarity protein 1 gene DOID:0060676 catecholaminergic polymorphic ventricular tachycardia 2 ISO RGD:1319967 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 2 PMID:24033266|PMID:25741868|PMID:26196381|PMID:28492532 8724387 Vangl1 VANGL planar cell polarity protein 1 gene DOID:0080074 neural tube defect ISO RGD:1319967 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neural tube defect | ClinVar Annotator: match by term: Neural tube defects | ClinVar Annotator: match by term: Neural tube defects, susceptibility to PMID:17409324|PMID:19319979|PMID:22892949|PMID:24033266|PMID:24307374|PMID:24407469|PMID:24452931|PMID:24838524|PMID:25068569|PMID:25208524|PMID:25741868|PMID:26196381|PMID:28492532 8724387 Vangl1 VANGL planar cell polarity protein 1 gene DOID:0080074 neural tube defect susceptibility ISO RGD:1319967 D RGD:7240710 20250312 OMIM 8724387 Vangl1 VANGL planar cell polarity protein 1 gene DOID:0080690 RASopathy ISO RGD:1319967 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8724387 Vangl1 VANGL planar cell polarity protein 1 gene DOID:0080700 caudal regression syndrome ISO RGD:1319967 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Caudal regression sequence | ClinVar Annotator: match by term: Sacral defect with anterior meningocele PMID:17409324|PMID:19319979|PMID:22892949|PMID:24033266|PMID:24307374|PMID:24407469|PMID:24452931|PMID:24838524|PMID:25068569|PMID:25208524|PMID:25741868|PMID:26196381|PMID:28492532 8724387 Vangl1 VANGL planar cell polarity protein 1 gene DOID:0080700 caudal regression syndrome susceptibility ISO RGD:1319967 D RGD:7240710 20250312 OMIM 8724387 Vangl1 VANGL planar cell polarity protein 1 gene DOID:10126 keratoconus ISO RGD:1319967 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Keratoconus 8724387 Vangl1 VANGL planar cell polarity protein 1 gene DOID:11836 clubfoot ISO RGD:1319967 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Clubfoot PMID:25741868 8724387 Vangl1 VANGL planar cell polarity protein 1 gene DOID:630 genetic disease ISO RGD:1319967 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8724387 Vangl1 VANGL planar cell polarity protein 1 gene DOID:9007215 Familial Ventricular Tachycardia ISO RGD:1319967 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial polymorphic ventricular tachycardia PMID:24033266|PMID:25741868|PMID:28492532 8724412 Cubn cubilin gene DOID:0060041 autism spectrum disorder ISO RGD:68502 D RGD:8554872 20240326 ClinVar ClinVar Annotator: match by term: Autism spectrum disorders PMID:15024727|PMID:22929189|PMID:25349199|PMID:25741868|PMID:28492532|PMID:31613795|PMID:34979989 8724412 Cubn cubilin gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:68502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 8724412 Cubn cubilin gene DOID:0111128 focal segmental glomerulosclerosis 1 ISO RGD:68502 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Focal sclerosis with hyalinosis PMID:25741868|PMID:28492532 8724412 Cubn cubilin gene DOID:10591 pre-eclampsia ISO RGD:68502 D RGD:9068941 20231130 RGD associated with late term delivery; mRNA:decreased expression:placenta (human) PMID:32682061|REF_RGD_ID:401901078 8724412 Cubn cubilin gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:68502 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Glomerulosclerosis, focal PMID:25741868|PMID:28492532 8724412 Cubn cubilin gene DOID:13382 megaloblastic anemia ISO RGD:68502 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Megaloblastic anemia | ClinVar Annotator: match by term: Megaloblastic anemia due to inborn errors of metabolism PMID:10080186|PMID:10887099|PMID:15024727|PMID:15963748|PMID:16199547|PMID:17576681|PMID:17668238|PMID:22277662|PMID:22495309|PMID:22929189|PMID:24033266|PMID:24156255|PMID:25349199|PMID:25525159|PMID:25741868|PMID:26467025|PMID:27197912|PMID:27766458|PMID:28204945|PMID:28492532|PMID:29402915|PMID:29801666|PMID:30220432|PMID:30547231|PMID:31497480|PMID:31613795|PMID:31630189|PMID:33226606|PMID:33532864|PMID:34426522|PMID:34610128|PMID:34979989|PMID:35460704|PMID:36112210|PMID:36891821|PMID:36926036|PMID:37312928|PMID:7573042|PMID:9536098 8724412 Cubn cubilin gene DOID:1909 melanoma ISO RGD:68502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 8724412 Cubn cubilin gene DOID:3393 coronary artery disease susceptibility ISO RGD:68502 D RGD:9068941 20230629 RGD DNA:SNP,haplotypes:intron: (rs2291521)G>A (human) PMID:33004870|REF_RGD_ID:329901841 8724412 Cubn cubilin gene DOID:630 genetic disease ISO RGD:68502 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17668238|PMID:22929189|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29402915|PMID:36891821 8724412 Cubn cubilin gene DOID:670 amphetamine abuse ISO RGD:68502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 8724412 Cubn cubilin gene DOID:784 chronic kidney disease ISO RGD:68502 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:15024727|PMID:22929189|PMID:24033266|PMID:25349199|PMID:25741868|PMID:28492532|PMID:31613795|PMID:34979989 8724412 Cubn cubilin gene DOID:9002165 Diabetic Nephropathies ISO RGD:68355 D RGD:9068941 20200609 RGD PMID:17037740|REF_RGD_ID:1599655 8724412 Cubn cubilin gene DOID:9005529 Chronic Benign Proteinuria ISO RGD:68502 D RGD:7240710 20200819 OMIM 8724412 Cubn cubilin gene DOID:9005529 Chronic Benign Proteinuria ISO RGD:68502 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Proteinuria, chronic benign PMID:10080186|PMID:10887099|PMID:15024727|PMID:16199547|PMID:17576681|PMID:17668238|PMID:22929189|PMID:24033266|PMID:24156255|PMID:25349199|PMID:25741868|PMID:26467025|PMID:27766458|PMID:28204945|PMID:28492532|PMID:29402915|PMID:29801666|PMID:30220432|PMID:30547231|PMID:31497480|PMID:31613795|PMID:31630189|PMID:33226606|PMID:33532864|PMID:34426522|PMID:34610128|PMID:34979989|PMID:35460704|PMID:36112210|PMID:36891821|PMID:36926036|PMID:37312928|PMID:7573042|PMID:9536098 8724412 Cubn cubilin gene DOID:9006481 Imerslund-Grasbeck Syndrome 1 ISO RGD:68502 D RGD:7240710 20180130 OMIM 8724412 Cubn cubilin gene DOID:9006481 Imerslund-Grasbeck Syndrome 1 ISO RGD:68502 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: ENTEROCYTE COBALAMIN MALABSORPTION | ClinVar Annotator: match by term: Enterocyte intrinsic factor receptor, defect of | ClinVar Annotator: match by term: Imerslund-Gräsbeck syndrome 1 | ClinVar Annotator: match by term: Megaloblastic anemia 1, Finnish type | ClinVar Annotator: match by term: PERNICIOUS ANEMIA, JUVENILE, DUE TO SELECTIVE INTESTINAL MALABSORPTION OF VITAMIN B12, WITH PROTEINURIA PMID:10080186|PMID:10887099|PMID:15024727|PMID:15963748|PMID:16199547|PMID:17576681|PMID:17668238|PMID:21208123|PMID:22277662|PMID:22495309|PMID:22929189|PMID:24033266|PMID:24156255|PMID:25349199|PMID:25525159|PMID:25741868|PMID:26467025|PMID:27197912|PMID:27766458|PMID:28204945|PMID:28492532|PMID:29402915|PMID:29801666|PMID:30220432|PMID:30547231|PMID:31497480|PMID:31613795|PMID:31630189|PMID:33226606|PMID:33532864|PMID:34426522|PMID:34610128|PMID:34979989|PMID:35460704|PMID:36112210|PMID:36891821|PMID:36926036|PMID:37312928|PMID:7573042|PMID:9536098 8724412 Cubn cubilin gene DOID:9006825 Imerslund-Grasbeck Syndrome ISO RGD:68502 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome PMID:10080186|PMID:10887099|PMID:15024727|PMID:15963748|PMID:16199547|PMID:17576681|PMID:17668238|PMID:21208123|PMID:22277662|PMID:22495309|PMID:22929189|PMID:24033266|PMID:24156255|PMID:25349199|PMID:25525159|PMID:25741868|PMID:26040326|PMID:26467025|PMID:27197912|PMID:27766458|PMID:28204945|PMID:28492532|PMID:29402915|PMID:29801666|PMID:30220432|PMID:30547231|PMID:31308072|PMID:31497480|PMID:31613795|PMID:31630189|PMID:33226606|PMID:33532864|PMID:34426522|PMID:34610128|PMID:34979989|PMID:35460704|PMID:36112210|PMID:36891821|PMID:36926036|PMID:37312928|PMID:38488435|PMID:7573042|PMID:9536098 8724488 Zdhhc13 zinc finger DHHC-type palmitoyltransferase 13 gene DOID:0110318 hypertrophic cardiomyopathy 12 ISO RGD:1320234 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 PMID:12642359|PMID:14567970|PMID:16352453|PMID:20087448|PMID:28492532|PMID:34558151 8724488 Zdhhc13 zinc finger DHHC-type palmitoyltransferase 13 gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:1320234 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 8724488 Zdhhc13 zinc finger DHHC-type palmitoyltransferase 13 gene DOID:1059 intellectual disability ISO RGD:1320234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8724488 Zdhhc13 zinc finger DHHC-type palmitoyltransferase 13 gene DOID:11476 osteoporosis ISO RGD:1320234 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20548961 8724488 Zdhhc13 zinc finger DHHC-type palmitoyltransferase 13 gene DOID:12858 Huntington's disease ISO RGD:1320235 D RGD:9068941 20220825 MouseDO OMIM:143100 8724488 Zdhhc13 zinc finger DHHC-type palmitoyltransferase 13 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1320234 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8724488 Zdhhc13 zinc finger DHHC-type palmitoyltransferase 13 gene DOID:9120 amyloidosis ISO RGD:1320234 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20548961 8724488 Zdhhc13 zinc finger DHHC-type palmitoyltransferase 13 gene DOID:987 alopecia ISO RGD:1320234 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20548961 8724513 Syt5 synaptotagmin 5 gene DOID:0110936 nemaline myopathy 5A ISO RGD:731962 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 5, Amish type PMID:28492532 8724513 Syt5 synaptotagmin 5 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:731962 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 8724526 Rims3 regulating synaptic membrane exocytosis 3 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1347880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8724553 Kif20a kinesin family member 20A gene DOID:0061025 familial restrictive cardiomyopathy 6 ISO RGD:1317032 D RGD:7240710 20210728 OMIM 8724553 Kif20a kinesin family member 20A gene DOID:0061025 familial restrictive cardiomyopathy 6 ISO RGD:1317032 D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, familial restrictive, 6 | ClinVar Annotator: match by term: KIF20A-related condition PMID:25741868|PMID:28492532|PMID:29357359 8724553 Kif20a kinesin family member 20A gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1317032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 8724553 Kif20a kinesin family member 20A gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1317032 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8724553 Kif20a kinesin family member 20A gene DOID:0080600 COVID-19 ISO RGD:1317032 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8724553 Kif20a kinesin family member 20A gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1317032 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 8724553 Kif20a kinesin family member 20A gene DOID:684 hepatocellular carcinoma ISO RGD:1317032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8724553 Kif20a kinesin family member 20A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8724553 Kif20a kinesin family member 20A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1317032 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8724576 Dtx3 deltex E3 ubiquitin ligase 3 gene DOID:0110173 Charcot-Marie-Tooth disease axonal type 2U ISO RGD:1347578 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U PMID:28492532 8724576 Dtx3 deltex E3 ubiquitin ligase 3 gene DOID:0110251 cataract 15 multiple types ISO RGD:1347578 D RGD:8554872 20240716 ClinVar ClinVar Annotator: match by term: Cataract 15 multiple types PMID:28492532 8724576 Dtx3 deltex E3 ubiquitin ligase 3 gene DOID:607 paraplegia ISO RGD:1347578 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 8724576 Dtx3 deltex E3 ubiquitin ligase 3 gene DOID:6846 familial melanoma ISO RGD:1347578 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 8724576 Dtx3 deltex E3 ubiquitin ligase 3 gene DOID:9002394 INTERSTITIAL LUNG AND LIVER DISEASE ISO RGD:1347578 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Interstitial lung and liver disease PMID:28492532 8724576 Dtx3 deltex E3 ubiquitin ligase 3 gene DOID:9008939 Breast Neoplasms ISO RGD:1347578 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25151356 8724632 LOC102008614 cytochrome c oxidase subunit 7A1, mitochondrial gene DOID:0110222 Brugada syndrome 5 ISO RGD:1348243 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 8724632 LOC102008614 cytochrome c oxidase subunit 7A1, mitochondrial gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1348243 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 8724632 LOC102008614 cytochrome c oxidase subunit 7A1, mitochondrial gene DOID:12930 dilated cardiomyopathy ISO RGD:1615204 D RGD:9068941 20220825 MouseDO 8724640 Cracr2b calcium release activated channel regulator 2B gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1603869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8724640 Cracr2b calcium release activated channel regulator 2B gene DOID:0080773 delta beta-thalassemia ISO RGD:1603869 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hereditary persistence of fetal hemoglobin PMID:2798417 8724640 Cracr2b calcium release activated channel regulator 2B gene DOID:0111969 immunodeficiency 39 ISO RGD:1603869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 8724640 Cracr2b calcium release activated channel regulator 2B gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1603869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8724640 Cracr2b calcium release activated channel regulator 2B gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1603869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 8724640 Cracr2b calcium release activated ch