# RGD-PIPELINE: ftp-file-extracts # MODULE: annotations-version-1.1.9 (Oct 10, 2019) # GENERATED-ON: 2026/07/04 # 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 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:0050387 nonpapillary renal cell carcinoma ISO RGD:1354182 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 10066165 Znf283 zinc finger protein 283 gene DOID:11054 urinary bladder cancer ISO RGD:1354182 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 10066165 Znf283 zinc finger protein 283 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1354182 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 10066165 Znf283 zinc finger protein 283 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1354182 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 10066165 Znf283 zinc finger protein 283 gene DOID:6171 uterine carcinosarcoma ISO RGD:1354182 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 10066165 Znf283 zinc finger protein 283 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1354182 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 10072529 Dock8-as1 DOCK8 antisense RNA 1 gene DOID:0080545 hyper IgE syndrome ISO RGD:11609841|RGD:126922578|RGD:15175112 D RGD:9068941 20250724 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 PMID:25741868|PMID:28492532 10076501 C1qtnf8 C1q and TNF related 8 gene DOID:6039 uveal melanoma ISO RGD:1345449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uveal melanoma 10080950 Tmem265 transmembrane protein 265 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:9686025 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 10080999 Ndufa12 NADH:ubiquinone oxidoreductase subunit A12 gene DOID:0050117 disease by infectious agent ISO RGD:1603389 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Recurrent infections 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 | 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:12849 autistic disorder ISO RGD:1603389 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Autistic behavior 10080999 Ndufa12 NADH:ubiquinone oxidoreductase subunit A12 gene DOID:1969 cerebral palsy ISO RGD:1603389 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cerebral palsy 10080999 Ndufa12 NADH:ubiquinone oxidoreductase subunit A12 gene DOID:3652 Leigh disease ISO RGD:1603389 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:25741868|PMID:28492532 10080999 Ndufa12 NADH:ubiquinone oxidoreductase subunit A12 gene DOID:4362 cervical cancer ISO RGD:1603389 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 10080999 Ndufa12 NADH:ubiquinone oxidoreductase subunit A12 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1603389 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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:9001276 Failure to Thrive ISO RGD:1603389 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Failure to thrive 10080999 Ndufa12 NADH:ubiquinone oxidoreductase subunit A12 gene DOID:9002775 Cognitive Dysfunction ISO RGD:1603389 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cognitive impairment 10080999 Ndufa12 NADH:ubiquinone oxidoreductase subunit A12 gene DOID:9004538 Hearing Loss ISO RGD:1603389 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hearing impairment 10080999 Ndufa12 NADH:ubiquinone oxidoreductase subunit A12 gene DOID:9005603 Muscle Hypotonia ISO RGD:1603389 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Generalized hypotonia 10080999 Ndufa12 NADH:ubiquinone oxidoreductase subunit A12 gene DOID:9008296 Eye Abnormalities ISO RGD:1603389 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:21617257|PMID:25741868|PMID:28454995|PMID:28492532|PMID:32341820|PMID:33715266|PMID:35141356 10082211 Cmc4 C-X9-C motif containing 4 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:2308876 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 10082211 Cmc4 C-X9-C motif containing 4 gene DOID:5041 esophageal cancer ISO RGD:2308876 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 10082211 Cmc4 C-X9-C motif containing 4 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:2308876 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 10082211 Cmc4 C-X9-C motif containing 4 gene DOID:9008952 Breast Cancer, Familial ISO RGD:2308876 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 10082678 Cdc20 cell division cycle 20 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:731833 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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:10534 stomach cancer ISO RGD:731833 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 10082678 Cdc20 cell division cycle 20 gene DOID:11054 urinary bladder cancer ISO RGD:731833 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 10082678 Cdc20 cell division cycle 20 gene DOID:684 hepatocellular carcinoma ISO RGD:731833 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 10082678 Cdc20 cell division cycle 20 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:731833 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 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 20260602 ClinVar ClinVar Annotator: match by term: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 14 | ClinVar Annotator: match by term: Oocyte maturation defect 14 PMID:25741868 10082678 Cdc20 cell division cycle 20 gene DOID:9119 acute myeloid leukemia ISO RGD:731833 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 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 20260602 ClinVar ClinVar Annotator: match by term: MKRN3-related condition | ClinVar Annotator: match by term: PRECOCIOUS PUBERTY, CENTRAL, 2 | ClinVar Annotator: match by term: Precocious puberty, central, 2 PMID:23738509|PMID:25741868|PMID:28492532|PMID:30462148 10082705 Mkrn3 makorin ring finger protein 3 gene DOID:11983 Prader-Willi syndrome ISO RGD:1322529 D RGD:8554872 20250722 ClinVar ClinVar Annotator: match by term: Prader-Willi syndrome PMID:25741868 10082705 Mkrn3 makorin ring finger protein 3 gene DOID:12849 autistic disorder ISO RGD:1322529 D RGD:8554872 20250423 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 10082705 Mkrn3 makorin ring finger protein 3 gene DOID:630 genetic disease ISO RGD:1322529 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10082705 Mkrn3 makorin ring finger protein 3 gene DOID:9007284 Precocious Puberty ISO RGD:1322529 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Precocious puberty PMID:25741868 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 20260602 ClinVar ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to 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 20260602 ClinVar ClinVar Annotator: match by term: ADRB1-related disorder | ClinVar Annotator: match by term: SHORT SLEEP, FAMILIAL NATURAL, 2 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:10534 stomach cancer ISO RGD:735730 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 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:1612 breast cancer ISO RGD:1343882 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: breast cancer 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: Prostate cancer PMID:23265383 10086815 Kiaa0040 KIAA0040 ortholog gene DOID:684 hepatocellular carcinoma ISO RGD:2290033 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 10086815 Kiaa0040 KIAA0040 ortholog gene DOID:9008952 Breast Cancer, Familial ISO RGD:2290033 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 10089213 Znf579 zinc finger protein 579 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1318265 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 10090446 Tmem177 transmembrane protein 177 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1606772 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 10090446 Tmem177 transmembrane protein 177 gene DOID:9119 acute myeloid leukemia ISO RGD:1606772 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 10090455 Nkx3-2 NK3 homeobox 2 gene DOID:1324 lung cancer ISO RGD:1353604 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 10090455 Nkx3-2 NK3 homeobox 2 gene DOID:1909 melanoma ISO RGD:1353604 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 10090455 Nkx3-2 NK3 homeobox 2 gene DOID:630 genetic disease ISO RGD:1353604 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 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:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1353604 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 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 20260602 ClinVar ClinVar Annotator: match by term: NKX3-2-related condition | ClinVar Annotator: match by term: SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA | ClinVar Annotator: match by term: Spondylo-megaepiphyseal-metaphyseal dysplasia PMID:25741868|PMID:28492532|PMID:29704686 10090455 Nkx3-2 NK3 homeobox 2 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1353604 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 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:5746 ovarian serous cystadenocarcinoma ISO RGD:69466 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 10090462 A1bg alpha-1-B glycoprotein gene DOID:684 hepatocellular carcinoma ISO RGD:69466 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 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 20260519 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 28 | ClinVar Annotator: match by term: LRP12-related condition PMID:25741868 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: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:1612 breast cancer ISO RGD:1312675 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: breast cancer PMID:25741868 10092336 Lrp12 LDL receptor related protein 12 gene DOID:1909 melanoma ISO RGD:1312675 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 10092336 Lrp12 LDL receptor related protein 12 gene DOID:3275 thymoma ISO RGD:1312675 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 10092336 Lrp12 LDL receptor related protein 12 gene DOID:4362 cervical cancer ISO RGD:1312675 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 10092336 Lrp12 LDL receptor related protein 12 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1312675 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 10092336 Lrp12 LDL receptor related protein 12 gene DOID:4947 cholangiocarcinoma ISO RGD:1312675 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 10092336 Lrp12 LDL receptor related protein 12 gene DOID:5041 esophageal cancer ISO RGD:1312675 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 10092336 Lrp12 LDL receptor related protein 12 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1312675 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 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:5746 ovarian serous cystadenocarcinoma ISO RGD:1312675 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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 10092336 Lrp12 LDL receptor related protein 12 gene DOID:684 hepatocellular carcinoma ISO RGD:1312675 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 10092336 Lrp12 LDL receptor related protein 12 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1312675 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 10093894 Plvap plasmalemma vesicle associated protein gene DOID:1324 lung cancer ISO RGD:1353643 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 10093894 Plvap plasmalemma vesicle associated protein gene DOID:1459 hypothyroidism ISO RGD:1353643 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hypothyroidism PMID:25741868 10093894 Plvap plasmalemma vesicle associated protein gene DOID:4362 cervical cancer ISO RGD:1353643 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 10093894 Plvap plasmalemma vesicle associated protein gene DOID:4947 cholangiocarcinoma ISO RGD:1353643 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 10093894 Plvap plasmalemma vesicle associated protein gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1353643 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 10093894 Plvap plasmalemma vesicle associated protein gene DOID:630 genetic disease ISO RGD:1353643 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 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:9007661 Dwarfism ISO RGD:1353643 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 10093894 Plvap plasmalemma vesicle associated protein gene DOID:9008539 Perinatal Death ISO RGD:1353643 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Neonatal death PMID:25741868 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 20260602 ClinVar ClinVar Annotator: match by term: DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE | ClinVar Annotator: match by term: Diarrhea 10, protein-losing enteropathy type | ClinVar Annotator: match by term: PLVAP-related condition PMID:18842627|PMID:25741868|PMID:26207260|PMID:28492532|PMID:29661969 10093904 Tefm transcription elongation factor, mitochondrial gene DOID:10534 stomach cancer ISO RGD:1605945 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 10093904 Tefm transcription elongation factor, mitochondrial gene DOID:3275 thymoma ISO RGD:1605945 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 10093904 Tefm transcription elongation factor, mitochondrial gene DOID:4362 cervical cancer ISO RGD:1605945 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 10093904 Tefm transcription elongation factor, mitochondrial gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1605945 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 10093904 Tefm transcription elongation factor, mitochondrial gene DOID:684 hepatocellular carcinoma ISO RGD:1605945 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 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:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1605945 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 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:0050939 uterine corpus endometrial carcinoma ISO RGD:735357 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 10099434 Dmbt1 deleted in malignant brain tumors 1 gene DOID:10534 stomach cancer ISO RGD:735357 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 10099434 Dmbt1 deleted in malignant brain tumors 1 gene DOID:11054 urinary bladder cancer ISO RGD:735357 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 10099434 Dmbt1 deleted in malignant brain tumors 1 gene DOID:1324 lung cancer ISO RGD:735357 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 10099434 Dmbt1 deleted in malignant brain tumors 1 gene DOID:234 colon adenocarcinoma ISO RGD:735357 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 10099434 Dmbt1 deleted in malignant brain tumors 1 gene DOID:2394 ovarian cancer ISO RGD:735357 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: ovarian cancer PMID:25741868 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:4362 cervical cancer ISO RGD:735357 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 10099434 Dmbt1 deleted in malignant brain tumors 1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:735357 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 10099434 Dmbt1 deleted in malignant brain tumors 1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:735357 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:735357 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 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 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: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 20260519 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 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, CONGESTIVE | 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|PMID:34228484 10102463 Ctf1 cardiotrophin 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1350898 D RGD:8554872 20250722 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:24033266|PMID:25741868|PMID:27149842|PMID:28492532 10102463 Ctf1 cardiotrophin 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1350898 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 10102463 Ctf1 cardiotrophin 1 gene DOID:4362 cervical cancer ISO RGD:1350898 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 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:5746 ovarian serous cystadenocarcinoma ISO RGD:1350898 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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:0060058 lymphoma ISO RGD:2307454 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lymphoma 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 10105221 Tmem259 transmembrane protein 259 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1322435 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 10105221 Tmem259 transmembrane protein 259 gene DOID:1909 melanoma ISO RGD:1322435 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 10105221 Tmem259 transmembrane protein 259 gene DOID:234 colon adenocarcinoma ISO RGD:1322435 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 10105221 Tmem259 transmembrane protein 259 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1322435 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 10105221 Tmem259 transmembrane protein 259 gene DOID:6171 uterine carcinosarcoma ISO RGD:1322435 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 10105221 Tmem259 transmembrane protein 259 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1322435 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 10105221 Tmem259 transmembrane protein 259 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1322435 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 10105221 Tmem259 transmembrane protein 259 gene DOID:9119 acute myeloid leukemia ISO RGD:1322435 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 10108911 Trnp1 TMF1 regulated nuclear protein 1 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1601688 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 10108911 Trnp1 TMF1 regulated nuclear protein 1 gene DOID:5041 esophageal cancer ISO RGD:1601688 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 10108911 Trnp1 TMF1 regulated nuclear protein 1 gene DOID:9004083 Familial Pancreatic Carcinoma ISO RGD:1601688 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial pancreatic carcinoma 10110121 Hhla2 HHLA2 member of B7 family gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1350112 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 10110121 Hhla2 HHLA2 member of B7 family gene DOID:10534 stomach cancer ISO RGD:1350112 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 10110121 Hhla2 HHLA2 member of B7 family gene DOID:1324 lung cancer ISO RGD:1350112 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 10110121 Hhla2 HHLA2 member of B7 family gene DOID:2394 ovarian cancer ISO RGD:1350112 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian cancer 10110121 Hhla2 HHLA2 member of B7 family gene DOID:5041 esophageal cancer ISO RGD:1350112 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 10110121 Hhla2 HHLA2 member of B7 family gene DOID:6354 chronic lymphocytic leukemia/small lymphocytic lymphoma ISO RGD:1350112 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma 10110121 Hhla2 HHLA2 member of B7 family gene DOID:9008952 Breast Cancer, Familial ISO RGD:1350112 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 10114792 Ftmt ferritin mitochondrial gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:13487787 D RGD:9068941 20250724 ClinVar ClinVar Annotator: match by term: Hereditary neoplastic syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 10122869 Atp5me ATP synthase membrane subunit e gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1350783 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 10122869 Atp5me ATP synthase membrane subunit e gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1350783 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 10122869 Atp5me ATP synthase membrane subunit e gene DOID:1115 sarcoma ISO RGD:1350783 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 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:5746 ovarian serous cystadenocarcinoma ISO RGD:1350783 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 10122869 Atp5me ATP synthase membrane subunit e gene DOID:9003566 Mesothelioma ISO RGD:1350783 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Mesothelioma 10122869 Atp5me ATP synthase membrane subunit e gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1350783 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 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: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:0050387 nonpapillary renal cell carcinoma ISO RGD:1606992 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 10131090 Tmem129 transmembrane protein 129, E3 ubiquitin ligase gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1606992 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 10131090 Tmem129 transmembrane protein 129, E3 ubiquitin ligase gene DOID:234 colon adenocarcinoma ISO RGD:1606992 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 10131090 Tmem129 transmembrane protein 129, E3 ubiquitin ligase gene DOID:4362 cervical cancer ISO RGD:1606992 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 10131090 Tmem129 transmembrane protein 129, E3 ubiquitin ligase gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1606992 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 10131090 Tmem129 transmembrane protein 129, E3 ubiquitin ligase gene DOID:9008952 Breast Cancer, Familial ISO RGD:1606992 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 10131559 Plin4 perilipin 4 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1347657 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 10131559 Plin4 perilipin 4 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1347657 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 10131559 Plin4 perilipin 4 gene DOID:0070042 Coffin-Siris syndrome 1 ISO RGD:1347657 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome 1 PMID:25741868 10131559 Plin4 perilipin 4 gene DOID:11054 urinary bladder cancer ISO RGD:1347657 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 10131559 Plin4 perilipin 4 gene DOID:234 colon adenocarcinoma ISO RGD:1347657 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 10131559 Plin4 perilipin 4 gene DOID:4362 cervical cancer ISO RGD:1347657 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 10131559 Plin4 perilipin 4 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1347657 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 10131559 Plin4 perilipin 4 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1347657 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 10131559 Plin4 perilipin 4 gene DOID:9005244 Vacuolar Neuromyopathy ISO RGD:1347657 D RGD:7240710 20230802 OMIM 10131559 Plin4 perilipin 4 gene DOID:9005244 Vacuolar Neuromyopathy ISO RGD:1347657 D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Vacuolar Neuromyopathy PMID:25741868 10131559 Plin4 perilipin 4 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1347657 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 10132159 Nova2 NOVA alternative splicing regulator 2 gene DOID:1059 intellectual disability ISO RGD:1317566 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability PMID:25167861 10132159 Nova2 NOVA alternative splicing regulator 2 gene DOID:3275 thymoma ISO RGD:1317566 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 10132159 Nova2 NOVA alternative splicing regulator 2 gene DOID:4362 cervical cancer ISO RGD:1317566 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 10132159 Nova2 NOVA alternative splicing regulator 2 gene DOID:630 genetic disease ISO RGD:1317566 D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 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 20260602 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:25741868 10132159 Nova2 NOVA alternative splicing regulator 2 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1317566 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 10133507 Defb136 defensin beta 136 gene DOID:14004 thoracic aortic aneurysm ISO RGD:150333719 D RGD:9068941 20250724 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm PMID:32748548 10135390 Brk1 BRICK1 subunit of SCAR/WAVE actin nucleating complex gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1352437 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 10135390 Brk1 BRICK1 subunit of SCAR/WAVE actin nucleating complex gene DOID:3275 thymoma ISO RGD:1352437 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 10135390 Brk1 BRICK1 subunit of SCAR/WAVE actin nucleating complex gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1352437 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 10139980 Uhrf1 ubiquitin like with PHD and ring finger domains 1 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1352913 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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:10534 stomach cancer ISO RGD:1352913 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 10139980 Uhrf1 ubiquitin like with PHD and ring finger domains 1 gene DOID:1115 sarcoma ISO RGD:1352913 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 10139980 Uhrf1 ubiquitin like with PHD and ring finger domains 1 gene DOID:1909 melanoma ISO RGD:1352913 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 10139980 Uhrf1 ubiquitin like with PHD and ring finger domains 1 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1352913 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma 10139980 Uhrf1 ubiquitin like with PHD and ring finger domains 1 gene DOID:5041 esophageal cancer ISO RGD:1352913 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 10139980 Uhrf1 ubiquitin like with PHD and ring finger domains 1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1352913 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 10139980 Uhrf1 ubiquitin like with PHD and ring finger domains 1 gene DOID:6171 uterine carcinosarcoma ISO RGD:1352913 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 10139980 Uhrf1 ubiquitin like with PHD and ring finger domains 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1352913 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 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 10139980 Uhrf1 ubiquitin like with PHD and ring finger domains 1 gene DOID:9005024 Hereditary Adrenocortical Carcinoma ISO RGD:1352913 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary 10139980 Uhrf1 ubiquitin like with PHD and ring finger domains 1 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1352913 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 10139980 Uhrf1 ubiquitin like with PHD and ring finger domains 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1352913 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 10139980 Uhrf1 ubiquitin like with PHD and ring finger domains 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1352913 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 10140531 Tnni2 troponin I2, fast skeletal type gene DOID:0050646 distal arthrogryposis ISO RGD:1344978 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Distal arthrogryposis PMID:12592607|PMID:1710100|PMID:17101001|PMID:17194691|PMID:25741868 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:0080954 arthrogryposis multiplex congenita ISO RGD:1344978 D RGD:9068941 20260604 RGD distal arthrogryposis type 2B, OMIM:601680 PMID:12592607|REF_RGD_ID:1599481 10140531 Tnni2 troponin I2, fast skeletal type gene DOID:0111599 distal arthrogryposis type 2B ISO RGD:1344978 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita distal type II with craniofacial abnormalities | ClinVar Annotator: match by term: Arthrogryposis multiplex congenita, distal, type 2B PMID:17194691|PMID:23401156|PMID:25340332|PMID:25741868|PMID:26526134|PMID:27790376|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 20260616 ClinVar ClinVar Annotator: match by term: ARTHROGRYPOSIS, DISTAL, TYPE 2B1 | ClinVar Annotator: match by term: Distal arthrogryposis type 2B1 | ClinVar Annotator: match by term: TNNI2-related condition | ClinVar Annotator: match by term: distal arthrogryposis type 2B1 PMID:12592607|PMID:1710100|PMID:17101001|PMID:17194691|PMID:23401156|PMID:24343878|PMID:25741868|PMID:28492532|PMID:33820833 10140531 Tnni2 troponin I2, fast skeletal type gene DOID:10534 stomach cancer ISO RGD:1344978 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 10140531 Tnni2 troponin I2, fast skeletal type gene DOID:11054 urinary bladder cancer ISO RGD:1344978 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder PMID:25741868 10140531 Tnni2 troponin I2, fast skeletal type gene DOID:1324 lung cancer ISO RGD:1344978 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer PMID:25741868 10140531 Tnni2 troponin I2, fast skeletal type gene DOID:3907 lung squamous cell carcinoma ISO RGD:1344978 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma 10140531 Tnni2 troponin I2, fast skeletal type gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1344978 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 10140531 Tnni2 troponin I2, fast skeletal type gene DOID:6171 uterine carcinosarcoma ISO RGD:1344978 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma PMID:25741868 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:9007573 Flatfoot ISO RGD:1344978 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Calcaneovalgus deformity PMID:12592607|PMID:1710100|PMID:17101001|PMID:17194691|PMID:25741868 10140531 Tnni2 troponin I2, fast skeletal type gene DOID:9008952 Breast Cancer, Familial ISO RGD:1344978 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868 10141913 Serpina10 serpin family A member 10 gene DOID:0050925 small intestine carcinoid neuroendocrine tumor ISO RGD:621220 D RGD:9068941 20250724 RGD mRNA:increased expression:small intestine tumor PMID:29154080|REF_RGD_ID:617256274 10141913 Serpina10 serpin family A member 10 gene DOID:10534 stomach cancer ISO RGD:1353693 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 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:684 hepatocellular carcinoma ISO RGD:1353693 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 10141913 Serpina10 serpin family A member 10 gene DOID:9003871 Venous Thrombosis ISO RGD:1353693 D RGD:9068941 20260521 CTD CTD Direct Evidence: marker/mechanism PMID:15461625 10141913 Serpina10 serpin family A member 10 gene DOID:9006618 Liver Metastasis ISO RGD:621220 D RGD:9068941 20250724 RGD mRNA:increased expression:liver tumor PMID:29154080|REF_RGD_ID:617256274 10141913 Serpina10 serpin family A member 10 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1353693 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 10145238 Fam240a family with sequence similarity 240 member A gene DOID:4362 cervical cancer ISO RGD:12801639 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 10154021 Ahnak2 AHNAK nucleoprotein 2 gene DOID:10534 stomach cancer ISO RGD:1320178 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 10154021 Ahnak2 AHNAK nucleoprotein 2 gene DOID:11054 urinary bladder cancer ISO RGD:1320178 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 10154021 Ahnak2 AHNAK nucleoprotein 2 gene DOID:1324 lung cancer ISO RGD:1320178 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 10154021 Ahnak2 AHNAK nucleoprotein 2 gene DOID:1909 melanoma ISO RGD:1320178 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 10154021 Ahnak2 AHNAK nucleoprotein 2 gene DOID:234 colon adenocarcinoma ISO RGD:1320178 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 10154021 Ahnak2 AHNAK nucleoprotein 2 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1320178 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 10154021 Ahnak2 AHNAK nucleoprotein 2 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1320178 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 10154021 Ahnak2 AHNAK nucleoprotein 2 gene DOID:6039 uveal melanoma ISO RGD:1320178 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uveal melanoma 10154021 Ahnak2 AHNAK nucleoprotein 2 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1320178 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 10156530 Znf358 zinc finger protein 358 gene DOID:10534 stomach cancer ISO RGD:1321306 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 10156556 Ptma prothymosin alpha gene DOID:0080322 polycystic kidney disease ISO RGD:62120 D RGD:9068941 20240425 MouseDO 10156556 Ptma prothymosin alpha gene DOID:10534 stomach cancer ISO RGD:733876 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 10156556 Ptma prothymosin alpha gene DOID:11054 urinary bladder cancer ISO RGD:733876 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 10156556 Ptma prothymosin alpha gene DOID:234 colon adenocarcinoma ISO RGD:733876 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 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:4362 cervical cancer ISO RGD:733876 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 10156556 Ptma prothymosin alpha gene DOID:4467 clear cell renal cell carcinoma ISO RGD:733876 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 10156556 Ptma prothymosin alpha gene DOID:5041 esophageal cancer ISO RGD:733876 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 10156556 Ptma prothymosin alpha gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:733876 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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 10158207 Mchr2 melanin concentrating hormone receptor 2 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1347761 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 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:4947 cholangiocarcinoma ISO RGD:1343885 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 10170186 Rasl11a RAS like family 11 member A gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1343885 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 10170186 Rasl11a RAS like family 11 member A gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1343885 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 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:11054 urinary bladder cancer ISO RGD:1320043 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 10170936 B3gnt4 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 gene DOID:1909 melanoma ISO RGD:1320043 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 10170936 B3gnt4 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1320043 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 10173859 Foxe1 forkhead box E1 gene DOID:0050328 congenital hypothyroidism ISO RGD:735499 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Congenital hypothyroidism 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 20260602 ClinVar ClinVar Annotator: match by term: BAMFORTH-LAZARUS SYNDROME | ClinVar Annotator: match by term: Bamforth-Lazarus syndrome PMID:24219130|PMID:25741868 10173859 Foxe1 forkhead box E1 gene DOID:630 genetic disease ISO RGD:735499 D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 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: FOXE1-related disorder | ClinVar Annotator: match by term: THYROID CANCER, NONMEDULLARY, 4 | 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: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:1324 lung cancer ISO RGD:1605938 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 10178222 CUNH1orf115 chromosome unknown C1orf115 homolog gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1605938 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 10178916 Znf214 zinc finger protein 214 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1349128 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 10178916 Znf214 zinc finger protein 214 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1349128 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 10179767 Ccdc6 coiled-coil domain containing 6 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1344180 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 10179767 Ccdc6 coiled-coil domain containing 6 gene DOID:10534 stomach cancer ISO RGD:1344180 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 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:11054 urinary bladder cancer ISO RGD:1344180 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 10179767 Ccdc6 coiled-coil domain containing 6 gene DOID:1324 lung cancer ISO RGD:1344180 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 10179767 Ccdc6 coiled-coil domain containing 6 gene DOID:3070 high grade glioma ISO RGD:1344180 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Glioma susceptibility 1 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 10179767 Ccdc6 coiled-coil domain containing 6 gene DOID:4362 cervical cancer ISO RGD:1344180 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 10179767 Ccdc6 coiled-coil domain containing 6 gene DOID:4947 cholangiocarcinoma ISO RGD:1344180 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 10179767 Ccdc6 coiled-coil domain containing 6 gene DOID:5041 esophageal cancer ISO RGD:1344180 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 10179767 Ccdc6 coiled-coil domain containing 6 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1344180 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 10179767 Ccdc6 coiled-coil domain containing 6 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1344180 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 10179767 Ccdc6 coiled-coil domain containing 6 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1344180 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 10179767 Ccdc6 coiled-coil domain containing 6 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1344180 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 10179767 Ccdc6 coiled-coil domain containing 6 gene DOID:9119 acute myeloid leukemia ISO RGD:1344180 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 10182818 Ppp2r3b protein phosphatase 2 regulatory subunit B''beta gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1604626 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 10182818 Ppp2r3b protein phosphatase 2 regulatory subunit B''beta gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1604626 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 10182818 Ppp2r3b protein phosphatase 2 regulatory subunit B''beta gene DOID:11054 urinary bladder cancer ISO RGD:1604626 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 10182818 Ppp2r3b protein phosphatase 2 regulatory subunit B''beta gene DOID:1115 sarcoma ISO RGD:1604626 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 10182818 Ppp2r3b protein phosphatase 2 regulatory subunit B''beta gene DOID:1324 lung cancer ISO RGD:1604626 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 10182818 Ppp2r3b protein phosphatase 2 regulatory subunit B''beta gene DOID:234 colon adenocarcinoma ISO RGD:1604626 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 10182818 Ppp2r3b protein phosphatase 2 regulatory subunit B''beta gene DOID:3275 thymoma ISO RGD:1604626 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 10182818 Ppp2r3b protein phosphatase 2 regulatory subunit B''beta gene DOID:3907 lung squamous cell carcinoma ISO RGD:1604626 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma 10182818 Ppp2r3b protein phosphatase 2 regulatory subunit B''beta gene DOID:4362 cervical cancer ISO RGD:1604626 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 10182818 Ppp2r3b protein phosphatase 2 regulatory subunit B''beta gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1604626 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 10182818 Ppp2r3b protein phosphatase 2 regulatory subunit B''beta gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1604626 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 10182818 Ppp2r3b protein phosphatase 2 regulatory subunit B''beta gene DOID:684 hepatocellular carcinoma ISO RGD:1604626 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 10182818 Ppp2r3b protein phosphatase 2 regulatory subunit B''beta gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1604626 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 10182818 Ppp2r3b protein phosphatase 2 regulatory subunit B''beta gene DOID:9008952 Breast Cancer, Familial ISO RGD:1604626 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 10182818 Ppp2r3b protein phosphatase 2 regulatory subunit B''beta gene DOID:9119 acute myeloid leukemia ISO RGD:1604626 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 10182818 Ppp2r3b protein phosphatase 2 regulatory subunit B''beta gene DOID:9256 colorectal cancer ISO RGD:1604626 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colorectal cancer 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:10534 stomach cancer ISO RGD:1604369 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 10187399 Zbtb32 zinc finger and BTB domain containing 32 gene DOID:11054 urinary bladder cancer ISO RGD:1604369 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 10187399 Zbtb32 zinc finger and BTB domain containing 32 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1604369 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 10187399 Zbtb32 zinc finger and BTB domain containing 32 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1604369 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 10189816 CUNH8orf89 chromosome unknown C8orf89 homolog gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:9586312 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 10197077 Rrs1 regulator of ribosome synthesis 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1322847 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 10197077 Rrs1 regulator of ribosome synthesis 1 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:0050939 uterine corpus endometrial carcinoma ISO RGD:730925 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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: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:4467 clear cell renal cell carcinoma ISO RGD:730925 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 10200077 Prss8 serine protease 8 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:730925 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:730925 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 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 10202549 Fam174c family with sequence similarity 174 member C gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1346714 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 10202549 Fam174c family with sequence similarity 174 member C gene DOID:10534 stomach cancer ISO RGD:1346714 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 10202549 Fam174c family with sequence similarity 174 member C gene DOID:9008952 Breast Cancer, Familial ISO RGD:1346714 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 10208797 Znf599 zinc finger protein 599 gene DOID:1324 lung cancer ISO RGD:1603572 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 10208797 Znf599 zinc finger protein 599 gene DOID:1909 melanoma ISO RGD:1603572 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 10208797 Znf599 zinc finger protein 599 gene DOID:3275 thymoma ISO RGD:1603572 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 10208797 Znf599 zinc finger protein 599 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1603572 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 10210341 Ctu1 cytosolic thiouridylase subunit 1 gene DOID:10534 stomach cancer ISO RGD:1602450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 10210341 Ctu1 cytosolic thiouridylase subunit 1 gene DOID:4362 cervical cancer ISO RGD:1602450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 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:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1602450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 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:4362 cervical cancer ISO RGD:1313358 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 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 20250603 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: SOX17-related pulmonary arterial hypertension PMID:25741868|PMID:28492532 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 20260602 ClinVar ClinVar Annotator: match by term: SOX17-related condition | ClinVar Annotator: match by term: VESICOURETERAL REFLUX 3 | ClinVar Annotator: match by term: Vesicoureteral reflux 3 PMID:25741868|PMID:28492532|PMID:30029678 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:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1313358 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 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:9009354 primary pulmonary hypertension 7 ISO RGD:1313358 D RGD:7240710 20250730 OMIM 10211058 Sox17 SRY-box transcription factor 17 gene DOID:9009354 primary pulmonary hypertension 7 ISO RGD:1313358 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: PRIMARY PULMONARY HYPERTENSION 7 | ClinVar Annotator: match by term: Pulmonary hypertension, primary, 7 PMID:25741868 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 10212720 Haus8 HAUS augmin like complex subunit 8 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1604254 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 10212720 Haus8 HAUS augmin like complex subunit 8 gene DOID:1909 melanoma ISO RGD:1604254 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 10212720 Haus8 HAUS augmin like complex subunit 8 gene DOID:234 colon adenocarcinoma ISO RGD:1604254 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 10212720 Haus8 HAUS augmin like complex subunit 8 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1604254 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 10212720 Haus8 HAUS augmin like complex subunit 8 gene DOID:5041 esophageal cancer ISO RGD:1604254 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 10212720 Haus8 HAUS augmin like complex subunit 8 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1604254 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 10212720 Haus8 HAUS augmin like complex subunit 8 gene DOID:684 hepatocellular carcinoma ISO RGD:1604254 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 10212720 Haus8 HAUS augmin like complex subunit 8 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1604254 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 10212720 Haus8 HAUS augmin like complex subunit 8 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1604254 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 10215893 Nipsnap1 nipsnap homolog 1 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1321311 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 10215893 Nipsnap1 nipsnap homolog 1 gene DOID:11054 urinary bladder cancer ISO RGD:1321311 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 10215893 Nipsnap1 nipsnap homolog 1 gene DOID:1909 melanoma ISO RGD:1321311 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 10215893 Nipsnap1 nipsnap homolog 1 gene DOID:234 colon adenocarcinoma ISO RGD:1321311 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 10215893 Nipsnap1 nipsnap homolog 1 gene DOID:3275 thymoma ISO RGD:1321311 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 10215893 Nipsnap1 nipsnap homolog 1 gene DOID:4362 cervical cancer ISO RGD:1321311 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 10215893 Nipsnap1 nipsnap homolog 1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1321311 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 10215893 Nipsnap1 nipsnap homolog 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1321311 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 10215893 Nipsnap1 nipsnap homolog 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1321311 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 10215893 Nipsnap1 nipsnap homolog 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1321311 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 10218927 Rcvrn recoverin gene DOID:3275 thymoma ISO RGD:734065 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 10218927 Rcvrn recoverin gene DOID:9008952 Breast Cancer, Familial ISO RGD:734065 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 10222039 Ncr3 natural cytotoxicity triggering receptor 3 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1353948 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 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:12365 malaria ISO RGD:1353948 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: MALARIA, MILD, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Malaria, severe, susceptibility to | ClinVar Annotator: match by term: NCR3-related condition 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:5746 ovarian serous cystadenocarcinoma ISO RGD:1353948 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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:3275 thymoma ISO RGD:1349866 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 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:5041 esophageal cancer ISO RGD:1349866 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 10225368 Klk1 kallikrein 1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1349866 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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:6171 uterine carcinosarcoma ISO RGD:1349866 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 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 20260602 ClinVar ClinVar Annotator: match by term: KALLIKREIN, DECREASED URINARY ACTIVITY OF 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 10228599 Pdcd7 programmed cell death 7 gene DOID:10534 stomach cancer ISO RGD:1319039 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 10228599 Pdcd7 programmed cell death 7 gene DOID:1909 melanoma ISO RGD:1319039 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 10228599 Pdcd7 programmed cell death 7 gene DOID:234 colon adenocarcinoma ISO RGD:1319039 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 10228599 Pdcd7 programmed cell death 7 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1319039 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 10228599 Pdcd7 programmed cell death 7 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1319039 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 10228599 Pdcd7 programmed cell death 7 gene DOID:684 hepatocellular carcinoma ISO RGD:1319039 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 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 10235799 Ntng2 netrin G2 gene DOID:11054 urinary bladder cancer ISO RGD:1316073 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 10235799 Ntng2 netrin G2 gene DOID:1115 sarcoma ISO RGD:1316073 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 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:5041 esophageal cancer ISO RGD:1316073 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 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:5746 ovarian serous cystadenocarcinoma ISO RGD:1316073 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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:9004083 Familial Pancreatic Carcinoma ISO RGD:1316073 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial pancreatic carcinoma 10235799 Ntng2 netrin G2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316073 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:31668703 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 20260602 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA | ClinVar Annotator: match by term: Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia PMID:25741868 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: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 10235799 Ntng2 netrin G2 gene DOID:9119 acute myeloid leukemia ISO RGD:1316073 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 10251142 Ndufc1 NADH:ubiquinone oxidoreductase subunit C1 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1353150 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 10251142 Ndufc1 NADH:ubiquinone oxidoreductase subunit C1 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1353150 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 10251142 Ndufc1 NADH:ubiquinone oxidoreductase subunit C1 gene DOID:10534 stomach cancer ISO RGD:1353150 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 10251142 Ndufc1 NADH:ubiquinone oxidoreductase subunit C1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1353150 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 10251142 Ndufc1 NADH:ubiquinone oxidoreductase subunit C1 gene DOID:6171 uterine carcinosarcoma ISO RGD:1353150 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 10251142 Ndufc1 NADH:ubiquinone oxidoreductase subunit C1 gene DOID:684 hepatocellular carcinoma ISO RGD:1353150 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 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 10254376 Shisa7 shisa family member 7 gene DOID:4362 cervical cancer ISO RGD:3160565 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 10254376 Shisa7 shisa family member 7 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:3160565 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 10254376 Shisa7 shisa family member 7 gene DOID:9008952 Breast Cancer, Familial ISO RGD:3160565 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 10256792 Polr2l RNA polymerase II, I and III subunit L gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1349201 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 10262063 Zcchc10 zinc finger CCHC-type containing 10 gene DOID:10534 stomach cancer ISO RGD:1317755 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 10262063 Zcchc10 zinc finger CCHC-type containing 10 gene DOID:1324 lung cancer ISO RGD:1317755 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 10262063 Zcchc10 zinc finger CCHC-type containing 10 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1317755 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 10262063 Zcchc10 zinc finger CCHC-type containing 10 gene DOID:684 hepatocellular carcinoma ISO RGD:1317755 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 10262063 Zcchc10 zinc finger CCHC-type containing 10 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1317755 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 10265533 Prima1 proline rich membrane anchor 1 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1315672 D RGD:8554872 20250729 ClinVar ClinVar Annotator: match by term: Familial sleep-related hypermotor epilepsy PMID:17576681|PMID:25741868|PMID:26339676|PMID:26467025|PMID:28492532|PMID:9536098 10265533 Prima1 proline rich membrane anchor 1 gene DOID:1909 melanoma ISO RGD:1315672 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 10265533 Prima1 proline rich membrane anchor 1 gene DOID:3275 thymoma ISO RGD:1315672 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 10265533 Prima1 proline rich membrane anchor 1 gene DOID:4362 cervical cancer ISO RGD:1315672 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 10265533 Prima1 proline rich membrane anchor 1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1315672 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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:0050939 uterine corpus endometrial carcinoma ISO RGD:1316083 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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:10534 stomach cancer ISO RGD:1316083 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 10265739 Rab5c RAB5C, member RAS oncogene family gene DOID:1059 intellectual disability ISO RGD:1316083 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:37552066 10265739 Rab5c RAB5C, member RAS oncogene family gene DOID:10908 hydrocephalus ISO RGD:1316083 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ventriculomegaly PMID:25741868|PMID:37552066 10265739 Rab5c RAB5C, member RAS oncogene family gene DOID:11054 urinary bladder cancer ISO RGD:1316083 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 10265739 Rab5c RAB5C, member RAS oncogene family gene DOID:12849 autistic disorder ISO RGD:1316083 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:25741868|PMID:37552066 10265739 Rab5c RAB5C, member RAS oncogene family gene DOID:1754 mitral valve stenosis ISO RGD:1316083 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Mitral stenosis PMID:25741868|PMID:37552066 10265739 Rab5c RAB5C, member RAS oncogene family gene DOID:1826 epilepsy ISO RGD:1316083 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:37552066 10265739 Rab5c RAB5C, member RAS oncogene family gene DOID:234 colon adenocarcinoma ISO RGD:1316083 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 10265739 Rab5c RAB5C, member RAS oncogene family gene DOID:3227 tracheal stenosis ISO RGD:1316083 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Tracheal stenosis PMID:25741868|PMID:37552066 10265739 Rab5c RAB5C, member RAS oncogene family gene DOID:3275 thymoma ISO RGD:1316083 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 10265739 Rab5c RAB5C, member RAS oncogene family gene DOID:3907 lung squamous cell carcinoma ISO RGD:1316083 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma 10265739 Rab5c RAB5C, member RAS oncogene family gene DOID:4362 cervical cancer ISO RGD:1316083 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 10265739 Rab5c RAB5C, member RAS oncogene family gene DOID:479 angiokeratoma ISO RGD:1316083 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Angiokeratoma PMID:25741868|PMID:37552066 10265739 Rab5c RAB5C, member RAS oncogene family gene DOID:535 sleep disorder ISO RGD:1316083 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sleep disturbance PMID:25741868|PMID:37552066 10265739 Rab5c RAB5C, member RAS oncogene family gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1316083 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 10265739 Rab5c RAB5C, member RAS oncogene family gene DOID:6171 uterine carcinosarcoma ISO RGD:1316083 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 10265739 Rab5c RAB5C, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1316083 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:37552066 10265739 Rab5c RAB5C, member RAS oncogene family gene DOID:684 hepatocellular carcinoma ISO RGD:1316083 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 10265739 Rab5c RAB5C, member RAS oncogene family gene DOID:9003133 Hypertelorism ISO RGD:1316083 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:25741868|PMID:37552066 10265739 Rab5c RAB5C, member RAS oncogene family gene DOID:9003816 Macrocephaly ISO RGD:1316083 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Macrocephaly PMID:25741868|PMID:37552066 10265739 Rab5c RAB5C, member RAS oncogene family gene DOID:9005603 Muscle Hypotonia ISO RGD:1316083 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:25741868|PMID:37552066 10265739 Rab5c RAB5C, member RAS oncogene family gene DOID:9005616 Micrognathism ISO RGD:1316083 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Micrognathia PMID:25741868|PMID:37552066 10265739 Rab5c RAB5C, member RAS oncogene family gene DOID:9007402 Gliosis ISO RGD:1316083 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gliosis PMID:25741868|PMID:37552066 10265739 Rab5c RAB5C, member RAS oncogene family gene DOID:9008086 Developmental Disabilities ISO RGD:1316083 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:37552066 10265739 Rab5c RAB5C, member RAS oncogene family gene DOID:9008606 Corneal Opacity ISO RGD:1316083 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Corneal opacity PMID:25741868|PMID:37552066 10265739 Rab5c RAB5C, member RAS oncogene family gene DOID:9008952 Breast Cancer, Familial ISO RGD:1316083 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 10265739 Rab5c RAB5C, member RAS oncogene family gene DOID:9009131 Ventriculomegaly ISO RGD:1316083 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ventriculomegaly PMID:25741868|PMID:37552066 10266413 Zbtb38 zinc finger and BTB domain containing 38 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1603531 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 10266413 Zbtb38 zinc finger and BTB domain containing 38 gene DOID:10534 stomach cancer ISO RGD:1603531 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 10266413 Zbtb38 zinc finger and BTB domain containing 38 gene DOID:4362 cervical cancer ISO RGD:1603531 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 10266430 Znf567 zinc finger protein 567 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1346041 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 10266430 Znf567 zinc finger protein 567 gene DOID:9119 acute myeloid leukemia ISO RGD:1346041 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 10266440 Spmip2 sperm microtubule inner protein 2 gene DOID:1115 sarcoma ISO RGD:1602179 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 10266440 Spmip2 sperm microtubule inner protein 2 gene DOID:5041 esophageal cancer ISO RGD:1602179 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 10266440 Spmip2 sperm microtubule inner protein 2 gene DOID:6171 uterine carcinosarcoma ISO RGD:1602179 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 10269103 Znf713 zinc finger protein 713 gene DOID:1909 melanoma ISO RGD:1605220 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 10269103 Znf713 zinc finger protein 713 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1605220 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 10269103 Znf713 zinc finger protein 713 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1605220 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 10275255 Ankrd65 ankyrin repeat domain 65 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:5508531 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:0050117 disease by infectious agent ISO RGD:68549 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Recurrent infections PMID:28492532 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:0050475 Weill-Marchesani syndrome ISO RGD:68549 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Mesodermal dysmorphodystrophy congenital | ClinVar Annotator: match by term: Weill-Marchesani syndrome PMID:17576681|PMID:19656777|PMID:23218701|PMID:23378721|PMID:23401661|PMID:25741868|PMID:26425313|PMID:27293371|PMID:28492532|PMID:9536098 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:0050581 brachydactyly ISO RGD:68549 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Brachydactyly PMID:25741868|PMID:28492532 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:68549 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:0060249 scoliosis ISO RGD:68549 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Scoliosis 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:0061273 Weill-Marchesani syndrome 1 ISO RGD:68549 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Weill-Marchesani syndrome 1 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:0061275 Weill-Marchesani syndrome 3 ISO RGD:68549 D RGD:7240710 20180130 OMIM 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:0061275 Weill-Marchesani syndrome 3 ISO RGD:68549 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Weill-Marchesani syndrome 3 PMID:17576681|PMID:25741868|PMID:27409795|PMID:28492532|PMID:9536098 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:1115 sarcoma ISO RGD:68549 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:11211 buphthalmos ISO RGD:68549 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Congenital glaucoma | ClinVar Annotator: match by term: Glaucoma, congenital PMID:19361779|PMID:19656777|PMID:22025892|PMID:24033266|PMID:28492532 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:11830 myopia ISO RGD:68549 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Myopia PMID:28492532 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:1324 lung cancer ISO RGD:68549 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 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 20260519 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:19361779|PMID:19656777|PMID:22025892|PMID:22539340|PMID:28492532|PMID:36087940 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:1596 depressive disorder ISO RGD:68549 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Depression PMID:28492532 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:1686 glaucoma ISO RGD:68549 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Glaucoma PMID:25741868|PMID:28492532 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:1909 melanoma ISO RGD:68549 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:2030 anxiety disorder ISO RGD:68549 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Anxiety PMID:28492532 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:3275 thymoma ISO RGD:68549 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma PMID:28492532 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:4074 pancreatic adenocarcinoma ISO RGD:68549 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:68549 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:68549 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma PMID:28492532 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:6171 uterine carcinosarcoma ISO RGD:68549 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma PMID:28492532 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:684 hepatocellular carcinoma ISO RGD:68549 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 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 20260519 ClinVar ClinVar Annotator: match by term: Microspherophakia PMID:25741868|PMID:28492532 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:9001510 Funnel Chest ISO RGD:68549 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Pectus excavatum PMID:28492532 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:9001733 Tinnitus ISO RGD:68549 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Tinnitus PMID:28492532 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:9003507 Premature Birth ISO RGD:68549 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Premature birth PMID:28492532 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:9003539 Hyperacusis ISO RGD:68549 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hyperacusis PMID:28492532 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 20260602 ClinVar ClinVar Annotator: match by term: GLAUCOMA 3, PRIMARY CONGENITAL, D | ClinVar Annotator: match by term: Glaucoma 3, primary congenital, D | ClinVar Annotator: match by term: Glaucoma 3, primary congenital, d PMID:10655546|PMID:17576681|PMID:19361779|PMID:19656777|PMID:21081970|PMID:22025892|PMID:23218701|PMID:23401661|PMID:25741868|PMID:27293371|PMID:27409795|PMID:28492532|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:9005077 Joint Instability ISO RGD:68549 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Joint hypermobility PMID:28492532 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:9005603 Muscle Hypotonia ISO RGD:68549 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:28492532 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 20260602 ClinVar ClinVar Annotator: match by term: MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA | ClinVar Annotator: match by term: Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma PMID:16199547|PMID:17576681|PMID:19361779|PMID:19656777|PMID:22025892|PMID:25741868|PMID:27409795|PMID:28492532|PMID:9536098 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:9006534 Nervous System Malformations ISO RGD:68549 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:28492532 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:68549 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 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 20260519 ClinVar ClinVar Annotator: match by term: Glaucoma 3, primary infantile, B | ClinVar Annotator: match by term: Primary congenital glaucoma type 3B PMID:17576681|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:9007661 Dwarfism ISO RGD:68549 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868|PMID:28492532 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:9007736 Vertigo ISO RGD:68549 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Vertigo PMID:28492532 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:9008421 Epistaxis ISO RGD:68549 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Epistaxis PMID:28492532 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:9008952 Breast Cancer, Familial ISO RGD:68549 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:28492532 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:9834 hyperopia ISO RGD:68549 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hypermetropia PMID:28492532 10280215 Sycp3 synaptonemal complex protein 3 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:733070 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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 20260602 ClinVar ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 4 | ClinVar Annotator: match by term: Spermatogenic failure 4 PMID:25741868 10280215 Sycp3 synaptonemal complex protein 3 gene DOID:10534 stomach cancer ISO RGD:733070 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Gastric cancer 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:1909 melanoma ISO RGD:733070 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 10280215 Sycp3 synaptonemal complex protein 3 gene DOID:3275 thymoma ISO RGD:733070 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 10280215 Sycp3 synaptonemal complex protein 3 gene DOID:4362 cervical cancer ISO RGD:733070 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 10280215 Sycp3 synaptonemal complex protein 3 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:733070 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 10280215 Sycp3 synaptonemal complex protein 3 gene DOID:684 hepatocellular carcinoma ISO RGD:733070 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 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 10284711 Znf316 zinc finger protein 316 gene DOID:4362 cervical cancer ISO RGD:1323214 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 10284711 Znf316 zinc finger protein 316 gene DOID:5041 esophageal cancer ISO RGD:1323214 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 10284711 Znf316 zinc finger protein 316 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1323214 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 10284711 Znf316 zinc finger protein 316 gene DOID:684 hepatocellular carcinoma ISO RGD:1323214 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 10284711 Znf316 zinc finger protein 316 gene DOID:9004083 Familial Pancreatic Carcinoma ISO RGD:1323214 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial pancreatic carcinoma 10284711 Znf316 zinc finger protein 316 gene DOID:9119 acute myeloid leukemia ISO RGD:1323214 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 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 20250729 ClinVar ClinVar Annotator: match by term: Congenital myopathy PMID:16199547|PMID:25741868|PMID:28492532 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 20260519 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 15 | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 15 PMID:16199547|PMID:17576681|PMID:23404334|PMID:25741868|PMID:28492532|PMID:34908252|PMID:9536098 10285507 Alg14 ALG14 UDP-N-acetylglucosaminyltransferase subunit gene DOID:10907 microcephaly ISO RGD:1604512 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 10285507 Alg14 ALG14 UDP-N-acetylglucosaminyltransferase subunit gene DOID:1826 epilepsy ISO RGD:1604512 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 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 20260519 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10285507 Alg14 ALG14 UDP-N-acetylglucosaminyltransferase subunit gene DOID:8488 polyhydramnios ISO RGD:1604512 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Polyhydramnios PMID:25741868 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 20260519 ClinVar ClinVar Annotator: match by term: MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY | ClinVar Annotator: match by term: Myopathy, epilepsy, and progressive cerebral atrophy PMID:25741868|PMID:28492532|PMID:28733338|PMID:34908252 10285507 Alg14 ALG14 UDP-N-acetylglucosaminyltransferase subunit gene DOID:9005603 Muscle Hypotonia ISO RGD:1604512 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hypotonia PMID:25741868 10285507 Alg14 ALG14 UDP-N-acetylglucosaminyltransferase subunit gene DOID:9008086 Developmental Disabilities ISO RGD:1604512 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 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:11573 listeriosis severity ISO RGD:1558575 D RGD:9068941 20210108 RGD PMID:31244826|REF_RGD_ID:40903065 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: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:5746 ovarian serous cystadenocarcinoma ISO RGD:1348652 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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:0050387 nonpapillary renal cell carcinoma ISO RGD:1346984 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 10288224 Znf41 zinc finger protein 41 gene DOID:10534 stomach cancer ISO RGD:1346984 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 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:4362 cervical cancer ISO RGD:1346984 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 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:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1346984 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 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:0050939 uterine corpus endometrial carcinoma ISO RGD:1605907 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 10289125 Tspan18 tetraspanin 18 gene DOID:1115 sarcoma ISO RGD:1605907 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 10289125 Tspan18 tetraspanin 18 gene DOID:1324 lung cancer ISO RGD:1605907 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 10289125 Tspan18 tetraspanin 18 gene DOID:1909 melanoma ISO RGD:1605907 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 10289125 Tspan18 tetraspanin 18 gene DOID:4362 cervical cancer ISO RGD:1605907 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 10289125 Tspan18 tetraspanin 18 gene DOID:5041 esophageal cancer ISO RGD:1605907 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 10289125 Tspan18 tetraspanin 18 gene DOID:5419 schizophrenia ISO RGD:1605907 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22037552 10289125 Tspan18 tetraspanin 18 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1605907 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 10289125 Tspan18 tetraspanin 18 gene DOID:684 hepatocellular carcinoma ISO RGD:1605907 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 10289125 Tspan18 tetraspanin 18 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1605907 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 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 aneurysms and dissections PMID:32748548 10297441 Dennd5b DENN domain containing 5B gene DOID:0050848 obstructive sleep apnea ISO RGD:1605273 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Obstructive sleep apnea syndrome PMID:25741868|PMID:38387458 10297441 Dennd5b DENN domain containing 5B gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1605273 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 10297441 Dennd5b DENN domain containing 5B gene DOID:0060046 aphasia ISO RGD:1605273 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Aphasia PMID:25741868|PMID:38387458 10297441 Dennd5b DENN domain containing 5B gene DOID:0060249 scoliosis ISO RGD:1605273 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Scoliosis PMID:25741868|PMID:38387458 10297441 Dennd5b DENN domain containing 5B gene DOID:1059 intellectual disability ISO RGD:1605273 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild PMID:25741868|PMID:38387458 10297441 Dennd5b DENN domain containing 5B gene DOID:10907 microcephaly ISO RGD:1605273 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:38387458 10297441 Dennd5b DENN domain containing 5B gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1605273 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Attention deficit hyperactivity disorder PMID:25741868|PMID:38387458 10297441 Dennd5b DENN domain containing 5B gene DOID:1115 sarcoma ISO RGD:1605273 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 10297441 Dennd5b DENN domain containing 5B gene DOID:11830 myopia ISO RGD:1605273 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Myopia PMID:25741868|PMID:38387458 10297441 Dennd5b DENN domain containing 5B gene DOID:13088 periventricular leukomalacia ISO RGD:1605273 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Periventricular leukomalacia PMID:25741868|PMID:38387458 10297441 Dennd5b DENN domain containing 5B gene DOID:1826 epilepsy ISO RGD:1605273 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:38387458 10297441 Dennd5b DENN domain containing 5B gene DOID:2841 asthma ISO RGD:1605273 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Asthma PMID:25741868|PMID:38387458 10297441 Dennd5b DENN domain containing 5B gene DOID:3275 thymoma ISO RGD:1605273 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 10297441 Dennd5b DENN domain containing 5B gene DOID:4362 cervical cancer ISO RGD:1605273 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 10297441 Dennd5b DENN domain containing 5B gene DOID:4667 kyphosis ISO RGD:1605273 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Kyphosis PMID:25741868|PMID:38387458 10297441 Dennd5b DENN domain containing 5B gene DOID:5041 esophageal cancer ISO RGD:1605273 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 10297441 Dennd5b DENN domain containing 5B gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1605273 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 10297441 Dennd5b DENN domain containing 5B gene DOID:9000837 Esophageal Stenosis ISO RGD:1605273 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Esophageal stricture PMID:25741868|PMID:38387458 10297441 Dennd5b DENN domain containing 5B gene DOID:9005603 Muscle Hypotonia ISO RGD:1605273 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:25741868|PMID:38387458 10297441 Dennd5b DENN domain containing 5B gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1605273 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 10297441 Dennd5b DENN domain containing 5B gene DOID:9007892 Tics ISO RGD:1605273 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Tics PMID:25741868|PMID:38387458 10297441 Dennd5b DENN domain containing 5B gene DOID:9007917 Supernumerary Tooth ISO RGD:1605273 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Teeth, supernumerary PMID:25741868|PMID:38387458 10297441 Dennd5b DENN domain containing 5B gene DOID:9008086 Developmental Disabilities ISO RGD:1605273 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:38387458 10297441 Dennd5b DENN domain containing 5B gene DOID:9008952 Breast Cancer, Familial ISO RGD:1605273 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 10297441 Dennd5b DENN domain containing 5B gene DOID:9119 acute myeloid leukemia ISO RGD:1605273 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 10297441 Dennd5b DENN domain containing 5B gene DOID:9650 pathologic nystagmus ISO RGD:1605273 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nystagmus PMID:25741868|PMID:38387458 10299366 Znf398 zinc finger protein 398 gene DOID:11054 urinary bladder cancer ISO RGD:1345407 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 10299366 Znf398 zinc finger protein 398 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1345407 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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:10763 hypertension ISO RGD:621678 D RGD:9068941 20200609 RGD PMID:12144877|REF_RGD_ID:1625415 10300641 Fads1 fatty acid desaturase 1 gene DOID:1115 sarcoma ISO RGD:1344024 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 10300641 Fads1 fatty acid desaturase 1 gene DOID:1909 melanoma ISO RGD:1344024 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 10300641 Fads1 fatty acid desaturase 1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1344024 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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:6039 uveal melanoma ISO RGD:1344024 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uveal melanoma 10300641 Fads1 fatty acid desaturase 1 gene DOID:6171 uterine carcinosarcoma ISO RGD:1344024 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 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:9008952 Breast Cancer, Familial ISO RGD:1344024 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 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:234 colon adenocarcinoma ISO RGD:2306136 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 10304093 Svip small VCP interacting protein gene DOID:9119 acute myeloid leukemia ISO RGD:2306136 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 10308184 Fbn3 fibrillin 3 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1350241 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 10308184 Fbn3 fibrillin 3 gene DOID:0050475 Weill-Marchesani syndrome ISO RGD:1350241 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Weill-Marchesani syndrome PMID:25741868 10308184 Fbn3 fibrillin 3 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1350241 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 10308184 Fbn3 fibrillin 3 gene DOID:10534 stomach cancer ISO RGD:1350241 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 10308184 Fbn3 fibrillin 3 gene DOID:1324 lung cancer ISO RGD:1350241 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 10308184 Fbn3 fibrillin 3 gene DOID:1909 melanoma ISO RGD:1350241 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 10308184 Fbn3 fibrillin 3 gene DOID:234 colon adenocarcinoma ISO RGD:1350241 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 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:3275 thymoma ISO RGD:1350241 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 10308184 Fbn3 fibrillin 3 gene DOID:4362 cervical cancer ISO RGD:1350241 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 10308184 Fbn3 fibrillin 3 gene DOID:5041 esophageal cancer ISO RGD:1350241 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 10308184 Fbn3 fibrillin 3 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1350241 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 10308184 Fbn3 fibrillin 3 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1350241 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma PMID:17576681|PMID:28492532|PMID:9536098 10308184 Fbn3 fibrillin 3 gene DOID:6171 uterine carcinosarcoma ISO RGD:1350241 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 10308184 Fbn3 fibrillin 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1350241 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 10308184 Fbn3 fibrillin 3 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1350241 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 10308184 Fbn3 fibrillin 3 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1350241 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 10308184 Fbn3 fibrillin 3 gene DOID:9119 acute myeloid leukemia ISO RGD:1350241 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 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: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 10312353 Gng5 G protein subunit gamma 5 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:737441 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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 10312353 Gng5 G protein subunit gamma 5 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:737441 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 10314245 H6pd hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1315252 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma PMID:28492532 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 20260602 ClinVar ClinVar Annotator: match by term: CORTISONE REDUCTASE DEFICIENCY 1 | ClinVar Annotator: match by term: Cortisone reductase deficiency 1 | ClinVar Annotator: match by term: H6PD-related condition PMID:16356929|PMID:18628520|PMID:25741868|PMID:28492532 10314245 H6pd hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase gene DOID:10534 stomach cancer ISO RGD:1315252 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 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:3070 high grade glioma ISO RGD:1315252 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Glioma susceptibility 1 10314245 H6pd hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase gene DOID:3275 thymoma ISO RGD:1315252 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 10314245 H6pd hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase gene DOID:4362 cervical cancer ISO RGD:1315252 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 10314245 H6pd hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1315252 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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: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:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1315252 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 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 10314245 H6pd hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase gene DOID:9008952 Breast Cancer, Familial ISO RGD:1315252 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 10314245 H6pd hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase gene DOID:9119 acute myeloid leukemia ISO RGD:1315252 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 10316752 Tmsb4x thymosin beta 4 X-linked gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:736781 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 10316752 Tmsb4x thymosin beta 4 X-linked gene DOID:0060058 lymphoma ISO RGD:736781 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lymphoma 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: Joubert-Boltshauser syndrome PMID:11349230|PMID:16783569|PMID:18546297|PMID:23033313|PMID:27081566|PMID:28492532 10316752 Tmsb4x thymosin beta 4 X-linked gene DOID:11054 urinary bladder cancer ISO RGD:736781 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 10316752 Tmsb4x thymosin beta 4 X-linked gene DOID:14566 disease of cellular proliferation ISO RGD:736781 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Neoplasm PMID:35101336 10316752 Tmsb4x thymosin beta 4 X-linked gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:736781 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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:9003566 Mesothelioma ISO RGD:736781 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Mesothelioma 10316752 Tmsb4x thymosin beta 4 X-linked gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:736781 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 10316752 Tmsb4x thymosin beta 4 X-linked gene DOID:9119 acute myeloid leukemia ISO RGD:736781 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 10317829 Ska2 spindle and kinetochore associated complex subunit 2 gene DOID:11054 urinary bladder cancer ISO RGD:1316064 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 10317829 Ska2 spindle and kinetochore associated complex subunit 2 gene DOID:1324 lung cancer ISO RGD:1316064 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 10317829 Ska2 spindle and kinetochore associated complex subunit 2 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1316064 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 10317829 Ska2 spindle and kinetochore associated complex subunit 2 gene DOID:6039 uveal melanoma ISO RGD:1316064 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uveal melanoma 10317829 Ska2 spindle and kinetochore associated complex subunit 2 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1316064 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 10317829 Ska2 spindle and kinetochore associated complex subunit 2 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1316064 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 10320437 Fam171a2 family with sequence similarity 171 member A2 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:2298821 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 10320437 Fam171a2 family with sequence similarity 171 member A2 gene DOID:1115 sarcoma ISO RGD:2298821 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 10320437 Fam171a2 family with sequence similarity 171 member A2 gene DOID:3275 thymoma ISO RGD:2298821 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 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, 5 PMID:38922859 10320437 Fam171a2 family with sequence similarity 171 member A2 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:2298821 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND DYSMORPHIC FACIES | 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 developmental disorder | ClinVar Annotator: match by term: Intellectual disability 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 20250729 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 20260519 ClinVar ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases 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 10322056 Sox4 SRY-box transcription factor 4 gene DOID:9005603 Muscle Hypotonia ISO RGD:1319854 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:25741868 10322056 Sox4 SRY-box transcription factor 4 gene DOID:9008086 Developmental Disabilities ISO RGD:1319854 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay 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 20260602 ClinVar ClinVar Annotator: match by term: Spermatogenic failure, X-linked, 7 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1349422 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 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 20260616 ClinVar ClinVar Annotator: match by term: N-terminal acetyltransferase deficiency | ClinVar Annotator: match by term: OGDEN SYNDROME | ClinVar Annotator: match by term: Ogden syndrome PMID:18414213|PMID:24431331|PMID:25099252|PMID:25741868|PMID:26522270|PMID:26757139|PMID:27094817|PMID:28492532|PMID:29095811|PMID:29957440|PMID:31127942|PMID:31174490|PMID:35039925|PMID:36810866|PMID:37130971|PMID:37441566|PMID:38335407|PMID:39012200|PMID:39825153|PMID:7094817 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:0050848 obstructive sleep apnea ISO RGD:1349422 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Obstructive sleep apnea syndrome PMID:24431331|PMID:25741868|PMID:26522270|PMID:27094817|PMID:28492532|PMID:31127942|PMID:31174490|PMID:35039925|PMID:37130971|PMID:37441566|PMID:38335407|PMID:7094817 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1349422 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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:0060260 ptosis ISO RGD:1349422 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Ptosis PMID:24431331|PMID:25741868|PMID:26522270|PMID:27094817|PMID:28492532|PMID:31127942|PMID:31174490|PMID:35039925|PMID:37130971|PMID:37441566|PMID:38335407|PMID:7094817 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:0060307 autosomal dominant intellectual developmental disorder ISO RGD:1349422 D RGD:8554872 20250722 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:0080833 laryngomalacia ISO RGD:1349422 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Congenital laryngomalacia PMID:24431331|PMID:25741868|PMID:26522270|PMID:27094817|PMID:28492532|PMID:31127942|PMID:31174490|PMID:35039925|PMID:37130971|PMID:37441566|PMID:38335407|PMID:7094817 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:0111566 familial isolated trichomegaly ISO RGD:1349422 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Long eyelashes PMID:24431331|PMID:25741868|PMID:26522270|PMID:27094817|PMID:28492532|PMID:31127942|PMID:31174490|PMID:35039925|PMID:37130971|PMID:37441566|PMID:38335407|PMID:7094817 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 20260616 ClinVar ClinVar Annotator: match by term: ANOP1 | ClinVar Annotator: match by term: MICROPHTHALMIA, SYNDROMIC 1 | ClinVar Annotator: match by term: Microphthalmia, syndromic 1 | ClinVar Annotator: match by term: NAA10-related condition PMID:24431331|PMID:25099252|PMID:25741868|PMID:26522270|PMID:27094817|PMID:28492532|PMID:29957440|PMID:31127942|PMID:31174490|PMID:35039925|PMID:37130971|PMID:37441566|PMID:38335407|PMID:39012200|PMID:7094817 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:1059 intellectual disability ISO RGD:1349422 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability PMID:24033266|PMID:24431331|PMID:25099252|PMID:25741868|PMID:26522270|PMID:27094817|PMID:28492532|PMID:29957440|PMID:31088393|PMID:31127942|PMID:31174490|PMID:35039925|PMID:37130971|PMID:37441566|PMID:38335407|PMID:7094817 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:10608 celiac disease ISO RGD:1349422 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Celiac disease PMID:25099252|PMID:25741868|PMID:28492532|PMID:29957440 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:10629 microphthalmia ISO RGD:1349422 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Microphthalmia PMID:25741868 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:10907 microcephaly ISO RGD:1349422 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24431331|PMID:25099252|PMID:25741868|PMID:26522270|PMID:27094817|PMID:28492532|PMID:29957440|PMID:31127942|PMID:31174490|PMID:35039925|PMID:37130971|PMID:37441566|PMID:38335407|PMID:7094817 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1349422 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Attention deficit hyperactivity disorder PMID:25741868|PMID:27094817|PMID:28492532|PMID:31088393|PMID:31174490 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:11782 astigmatism ISO RGD:1349422 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Astigmatism PMID:24431331|PMID:25741868|PMID:26522270|PMID:27094817|PMID:28492532|PMID:31127942|PMID:31174490|PMID:35039925|PMID:36810866|PMID:37130971|PMID:37441566|PMID:38335407|PMID:7094817 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:11830 myopia ISO RGD:1349422 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Myopia PMID:24431331|PMID:25741868|PMID:26522270|PMID:27094817|PMID:28492532|PMID:31127942|PMID:31174490|PMID:35039925|PMID:36810866|PMID:37130971|PMID:37441566|PMID:38335407|PMID:7094817 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:11914 gastroparesis ISO RGD:1349422 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Gastroparesis PMID:24431331|PMID:25741868|PMID:26522270|PMID:27094817|PMID:28492532|PMID:31127942|PMID:31174490|PMID:35039925|PMID:37130971|PMID:37441566|PMID:38335407|PMID:7094817 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1349422 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:24431331|PMID:25741868|PMID:26522270|PMID:27094817|PMID:28492532|PMID:31127942|PMID:31174490|PMID:35039925|PMID:36810866|PMID:37130971|PMID:37441566|PMID:38335407|PMID:7094817 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:1657 ventricular septal defect ISO RGD:1349422 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Ventricular septal defect PMID:24431331|PMID:25741868|PMID:26522270|PMID:27094817|PMID:28492532|PMID:31127942|PMID:31174490|PMID:35039925|PMID:37130971|PMID:37441566|PMID:38335407|PMID:7094817 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:1826 epilepsy ISO RGD:1349422 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Seizure PMID:24431331|PMID:25741868|PMID:26522270|PMID:27094817|PMID:28492532|PMID:31127942|PMID:31174490|PMID:35039925|PMID:37130971|PMID:37441566|PMID:38335407|PMID:7094817 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:1882 atrial heart septal defect ISO RGD:1349422 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:24431331|PMID:25741868|PMID:26522270|PMID:27094817|PMID:28492532|PMID:31127942|PMID:31174490|PMID:35039925|PMID:37130971|PMID:37441566|PMID:38335407|PMID:7094817 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:2843 long QT syndrome ISO RGD:1349422 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Prolonged QT interval PMID:24431331|PMID:25741868|PMID:26522270|PMID:27094817|PMID:28492532|PMID:31127942|PMID:31174490|PMID:35039925|PMID:37130971|PMID:37441566|PMID:38335407|PMID:7094817 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:4029 gastritis ISO RGD:1349422 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Gastritis PMID:24431331|PMID:25741868|PMID:26522270|PMID:27094817|PMID:28492532|PMID:31127942|PMID:31174490|PMID:35039925|PMID:37130971|PMID:37441566|PMID:38335407|PMID:7094817 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:4448 macular degeneration ISO RGD:1349422 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:25741868|PMID:28492532|PMID:36810866 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:535 sleep disorder ISO RGD:1349422 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sleep disorder PMID:25741868|PMID:27094817|PMID:28492532|PMID:31088393|PMID:31174490 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:540 strabismus ISO RGD:1349422 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Strabismus PMID:25741868|PMID:27094817|PMID:28492532|PMID:31088393|PMID:31174490 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1349422 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:5805 subvalvular aortic stenosis ISO RGD:1349422 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Subvalvular aortic stenosis PMID:24431331|PMID:25741868|PMID:26522270|PMID:27094817|PMID:28492532|PMID:31127942|PMID:31174490|PMID:35039925|PMID:37130971|PMID:37441566|PMID:38335407|PMID:7094817 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:627 severe combined immunodeficiency ISO RGD:1349422 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease PMID:25741868 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:630 genetic disease ISO RGD:1349422 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24431331|PMID:25741868|PMID:26522270|PMID:27094817|PMID:28492532|PMID:31127942|PMID:31174490|PMID:35039925|PMID:36810866|PMID:37130971|PMID:37441566|PMID:38335407|PMID:39012200|PMID:7094817 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:6420 pulmonary valve stenosis ISO RGD:1349422 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Pulmonic stenosis PMID:24431331|PMID:25741868|PMID:26522270|PMID:27094817|PMID:28492532|PMID:31127942|PMID:31174490|PMID:35039925|PMID:37130971|PMID:37441566|PMID:38335407|PMID:7094817 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:8534 gastroesophageal reflux disease ISO RGD:1349422 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Gastroesophageal reflux PMID:24431331|PMID:25741868|PMID:26522270|PMID:27094817|PMID:28492532|PMID:31127942|PMID:31174490|PMID:35039925|PMID:37130971|PMID:37441566|PMID:38335407|PMID:7094817 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:9000123 Deglutition Disorders ISO RGD:1349422 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Dysphagia PMID:24431331|PMID:25741868|PMID:26522270|PMID:27094817|PMID:28492532|PMID:31127942|PMID:31174490|PMID:35039925|PMID:37130971|PMID:37441566|PMID:38335407|PMID:7094817 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:9001276 Failure to Thrive ISO RGD:1349422 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:24431331|PMID:25741868|PMID:26522270|PMID:27094817|PMID:28492532|PMID:31127942|PMID:31174490|PMID:35039925|PMID:37130971|PMID:37441566|PMID:38335407|PMID:7094817 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:9001510 Funnel Chest ISO RGD:1349422 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Pectus excavatum PMID:24431331|PMID:25741868|PMID:26522270|PMID:27094817|PMID:28492532|PMID:31127942|PMID:31174490|PMID:35039925|PMID:37130971|PMID:37441566|PMID:38335407|PMID:7094817 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:9003133 Hypertelorism ISO RGD:1349422 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:24431331|PMID:25741868|PMID:26522270|PMID:27094817|PMID:28492532|PMID:31127942|PMID:31174490|PMID:35039925|PMID:37130971|PMID:37441566|PMID:38335407|PMID:7094817 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349422 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality PMID:24431331|PMID:25099252|PMID:25741868|PMID:26522270|PMID:27094817|PMID:28492532|PMID:29957440|PMID:31127942|PMID:31174490|PMID:35039925|PMID:37130971|PMID:37441566|PMID:38335407|PMID:7094817 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:9004507 Hirsutism ISO RGD:1349422 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hirsutism PMID:25741868 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:9005603 Muscle Hypotonia ISO RGD:1349422 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia PMID:25099252|PMID:25741868|PMID:27094817|PMID:28492532|PMID:29957440 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:9005603 Muscle Hypotonia ISO RGD:1349422 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia PMID:24431331|PMID:25099252|PMID:25741868|PMID:26522270|PMID:27094817|PMID:28492532|PMID:29957440|PMID:31127942|PMID:31174490|PMID:35039925|PMID:37130971|PMID:37441566|PMID:38335407|PMID:7094817 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 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1349422 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 PMID:25741868|PMID:28492532|PMID:36810866 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:9007284 Precocious Puberty ISO RGD:1349422 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Precocious puberty PMID:24431331|PMID:25741868|PMID:26522270|PMID:27094817|PMID:28492532|PMID:31127942|PMID:31174490|PMID:35039925|PMID:37130971|PMID:37441566|PMID:38335407|PMID:7094817 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:9007402 Gliosis ISO RGD:1349422 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gliosis PMID:25099252|PMID:25741868|PMID:28492532|PMID:29957440 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:9007573 Flatfoot ISO RGD:1349422 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Pes planus PMID:24431331|PMID:25741868|PMID:26522270|PMID:27094817|PMID:28492532|PMID:31127942|PMID:31174490|PMID:35039925|PMID:37130971|PMID:37441566|PMID:38335407|PMID:7094817 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:9007661 Dwarfism ISO RGD:1349422 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Short stature PMID:24431331|PMID:25741868|PMID:26522270|PMID:27094817|PMID:28492532|PMID:31127942|PMID:31174490|PMID:35039925|PMID:37130971|PMID:37441566|PMID:38335407|PMID:7094817 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:9007817 Macroglossia ISO RGD:1349422 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Macroglossia PMID:24431331|PMID:25741868|PMID:26522270|PMID:27094817|PMID:28492532|PMID:31127942|PMID:31174490|PMID:35039925|PMID:37130971|PMID:37441566|PMID:38335407|PMID:7094817 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:9008086 Developmental Disabilities ISO RGD:1349422 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:24431331|PMID:25741868|PMID:26522270|PMID:27094817|PMID:28492532|PMID:31127942|PMID:31174490|PMID:35039925|PMID:36810866|PMID:37130971|PMID:37441566|PMID:38335407|PMID:7094817 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:9008189 Pyelectasis ISO RGD:1349422 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Fetal pyelectasis PMID:24431331|PMID:25741868|PMID:26522270|PMID:27094817|PMID:28492532|PMID:31127942|PMID:31174490|PMID:35039925|PMID:37130971|PMID:37441566|PMID:38335407|PMID:7094817 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:9008675 Dyskinesias ISO RGD:1349422 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Involuntary movements PMID:24431331|PMID:25741868|PMID:26522270|PMID:27094817|PMID:28492532|PMID:31127942|PMID:31174490|PMID:35039925|PMID:37130971|PMID:37441566|PMID:38335407|PMID:7094817 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:9008952 Breast Cancer, Familial ISO RGD:1349422 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:9119 acute myeloid leukemia ISO RGD:1349422 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:930 orbital disease ISO RGD:1349422 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Proptosis PMID:24431331|PMID:25741868|PMID:26522270|PMID:27094817|PMID:28492532|PMID:31127942|PMID:31174490|PMID:35039925|PMID:37130971|PMID:37441566|PMID:38335407|PMID:7094817 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 10332758 Lsm11 LSM11, U7 small nuclear RNA associated gene DOID:1324 lung cancer ISO RGD:1354131 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 10332758 Lsm11 LSM11, U7 small nuclear RNA associated gene DOID:234 colon adenocarcinoma ISO RGD:1354131 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 10332758 Lsm11 LSM11, U7 small nuclear RNA associated gene DOID:2394 ovarian cancer ISO RGD:1354131 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian cancer 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 20260602 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 8 | ClinVar Annotator: match by term: LSM11-related condition 10332758 Lsm11 LSM11, U7 small nuclear RNA associated gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1354131 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 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:0050387 nonpapillary renal cell carcinoma ISO RGD:1346715 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 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:0080171 esophageal atresia/tracheoesophageal fistula ISO RGD:1346715 D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Esophageal atresia/tracheoesophageal fistula PMID:32641753 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:0080600 COVID-19 ISO RGD:1346715 D RGD:9068941 20260117 RGD mRNA:increased expression:blood PMID:33780352|REF_RGD_ID:630350570 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:10485 esophageal atresia ISO RGD:1346715 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Esophageal atresia PMID:32641753 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 Human 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:13620 patent foramen ovale ISO RGD:1346715 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Patent foramen ovale PMID:32641753 10335251 Tlr9 toll like receptor 9 gene DOID:13832 patent ductus arteriosus ISO RGD:1346715 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Patent ductus arteriosus PMID:32641753 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:2957 pulmonary tuberculosis sexual_dimorphism ISO RGD:1346715 D RGD:9068941 20260115 RGD DNA:SNP:intron:rs352139�� PMID:30529560|REF_RGD_ID:630350409 10335251 Tlr9 toll like receptor 9 gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:1346715 D RGD:9068941 20260115 RGD DNA:SNPs:promoter, intron:rs187084, rs352165, rs352167 PMID:37051380|REF_RGD_ID:630350413 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: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:9004083 Familial Pancreatic Carcinoma ISO RGD:1346715 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial pancreatic carcinoma 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:9007575 chronic rhinosinusitis with nasal polyps ISO RGD:1346715 D RGD:9068941 20260115 RGD mRNA:increased expression:nasal cavity mucosa PMID:26518209|REF_RGD_ID:630350565 10335251 Tlr9 toll like receptor 9 gene DOID:9007661 Dwarfism ISO RGD:1346715 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Short stature PMID:32641753 10335251 Tlr9 toll like receptor 9 gene DOID:9008086 Developmental Disabilities ISO RGD:1346715 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Developmental delay PMID:32641753 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: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:9009407 rhinovirus infections ISO RGD:1346715 D RGD:9068941 20260115 RGD associated with cystic fibrosis and Staphylococcal Infections and Pseudomonas Infections;mRNA: increased expression:sputum PMID:32712204|REF_RGD_ID:630350557 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 10335262 Marveld1 MARVEL domain containing 1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1353944 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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:13994 cleidocranial dysplasia ISO RGD:10326 D RGD:9068941 20260319 MouseDO OMIM:119600 | OMIM:216330 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: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:9004083 Familial Pancreatic Carcinoma ISO RGD:2290194 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial pancreatic carcinoma 10337370 Ccni2 cyclin I family member 2 gene DOID:9008952 Breast Cancer, Familial ISO RGD:2290194 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 10341818 Smkr1 small lysine rich protein 1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:7204969 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 10342817 Exd3 exonuclease 3'-5' domain containing 3 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1606281 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 10342817 Exd3 exonuclease 3'-5' domain containing 3 gene DOID:1115 sarcoma ISO RGD:1606281 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 10342817 Exd3 exonuclease 3'-5' domain containing 3 gene DOID:1324 lung cancer ISO RGD:1606281 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 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: Seizure 10342817 Exd3 exonuclease 3'-5' domain containing 3 gene DOID:1909 melanoma ISO RGD:1606281 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 10342817 Exd3 exonuclease 3'-5' domain containing 3 gene DOID:234 colon adenocarcinoma ISO RGD:1606281 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 10342817 Exd3 exonuclease 3'-5' domain containing 3 gene DOID:3275 thymoma ISO RGD:1606281 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 10342817 Exd3 exonuclease 3'-5' domain containing 3 gene DOID:4362 cervical cancer ISO RGD:1606281 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 10342817 Exd3 exonuclease 3'-5' domain containing 3 gene DOID:5041 esophageal cancer ISO RGD:1606281 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 10342817 Exd3 exonuclease 3'-5' domain containing 3 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1606281 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 10342817 Exd3 exonuclease 3'-5' domain containing 3 gene DOID:6171 uterine carcinosarcoma ISO RGD:1606281 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 10342817 Exd3 exonuclease 3'-5' domain containing 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1606281 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 10342817 Exd3 exonuclease 3'-5' domain containing 3 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1606281 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 10342817 Exd3 exonuclease 3'-5' domain containing 3 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1606281 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 10342817 Exd3 exonuclease 3'-5' domain containing 3 gene DOID:9119 acute myeloid leukemia ISO RGD:1606281 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 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: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:4362 cervical cancer ISO RGD:1349365 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 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:9119 acute myeloid leukemia ISO RGD:1349365 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 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:0050387 nonpapillary renal cell carcinoma ISO RGD:1314062 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 10345881 Card6 caspase recruitment domain family member 6 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1314062 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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:11054 urinary bladder cancer ISO RGD:1314062 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 10345881 Card6 caspase recruitment domain family member 6 gene DOID:5041 esophageal cancer ISO RGD:1314062 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 10345881 Card6 caspase recruitment domain family member 6 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1314062 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 10345881 Card6 caspase recruitment domain family member 6 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1314062 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 10347018 Phgr1 proline, histidine and glycine rich 1 gene DOID:4362 cervical cancer ISO RGD:3398935 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 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: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:3275 thymoma ISO RGD:1344226 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 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 20260602 ClinVar ClinVar Annotator: match by term: Angioedema, hereditary, 8 10355889 Ltc4s leukotriene C4 synthase gene DOID:0040002 aspirin allergy ISO RGD:733491 D RGD:9068941 20250828 RGD associated with chronic spontaneous urticaria;DNA:SNP:promoter:g.-444A>C PMID:15100686|REF_RGD_ID:11097261 10355889 Ltc4s leukotriene C4 synthase gene DOID:0050127 sinusitis ISO RGD:733491 D RGD:9068941 20250828 RGD DNA:SNP:promoter:g.-444A>C PMID:17063752|REF_RGD_ID:626167422 10355889 Ltc4s leukotriene C4 synthase gene DOID:0050848 obstructive sleep apnea ISO RGD:733491 D RGD:9068941 20250904 RGD mRNA:increased expression:tonsil, lymphocyte PMID:25211287|REF_RGD_ID:626419674 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:0080821 exercise-induced bronchoconstriction severity ISO RGD:733491 D RGD:9068941 20250830 RGD DNA:SNP:promoter:g.-444A>C PMID:16675353|REF_RGD_ID:626168278 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:0080822 aspirin-induced respiratory disease ISO RGD:733491 D RGD:9068941 20250830 RGD DNA:SNP:promoter:g.-444A>C PMID:10970818|PMID:9393345|REF_RGD_ID:626168277|REF_RGD_ID:626168284 10355889 Ltc4s leukotriene C4 synthase gene DOID:0080822 aspirin-induced respiratory disease ISO RGD:733491 D RGD:9068941 20250830 RGD protein:increased expression:bronchus PMID:9466979|REF_RGD_ID:626168267 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:1205 allergic disease ISO RGD:733491 D RGD:9068941 20250828 RGD DNA:missense mutation:cds:p.E4K PMID:16211251|REF_RGD_ID:626168245 10355889 Ltc4s leukotriene C4 synthase gene DOID:1555 urticaria ISO RGD:733491 D RGD:9068941 20250828 RGD associated with aspirin allergy;DNA:SNP:promoter:g.-444A>C PMID:19862937|REF_RGD_ID:11098801 10355889 Ltc4s leukotriene C4 synthase gene DOID:1852 intrahepatic cholestasis ISO RGD:620677 D RGD:9068941 20250918 RGD mRNA:decreased expression:liver PMID:31115536|REF_RGD_ID:626469571 10355889 Ltc4s leukotriene C4 synthase gene DOID:1909 melanoma ISO RGD:733491 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 10355889 Ltc4s leukotriene C4 synthase gene DOID:224 transient cerebral ischemia ISO RGD:733491 D RGD:9068941 20250830 RGD DNA:SNPs:promoter:g.-444A>C, g.-1072G>A PMID:19280718|REF_RGD_ID:626168270 10355889 Ltc4s leukotriene C4 synthase gene DOID:224 transient cerebral ischemia ISO RGD:733491 D RGD:9068941 20250830 RGD DNA:mutations:intron, exons:multiple PMID:20456754|REF_RGD_ID:626168272 10355889 Ltc4s leukotriene C4 synthase gene DOID:2841 asthma ISO RGD:732524 D RGD:9068941 20250830 RGD DNA:SNP:promoter:g.-444A>C PMID:19080797|REF_RGD_ID:626168265 10355889 Ltc4s leukotriene C4 synthase gene DOID:2841 asthma ISO RGD:733491 D RGD:9068941 20250828 RGD mRNA:increased expression:sputum PMID:21781515|REF_RGD_ID:626168258 10355889 Ltc4s leukotriene C4 synthase gene DOID:2841 asthma ISO RGD:733491 D RGD:9068941 20250830 RGD mRNA:increased expression:blood, eosinophil PMID:10970818|REF_RGD_ID:626168284 10355889 Ltc4s leukotriene C4 synthase gene DOID:2841 asthma ISO RGD:733491 D RGD:9068941 20250830 RGD mRNA:increased expression:blood, neutrophil PMID:12765316|REF_RGD_ID:626168266 10355889 Ltc4s leukotriene C4 synthase gene DOID:2841 asthma no_association ISO RGD:733491 D RGD:9068941 20250828 RGD DNA:SNP:promoter:g.-444A>C PMID:20128419|PMID:28275397|REF_RGD_ID:4890407|REF_RGD_ID:626167423 10355889 Ltc4s leukotriene C4 synthase gene DOID:2841 asthma onset ISO RGD:733491 D RGD:9068941 20250828 RGD DNA:transversion:promoter:g.-444A>C PMID:12063521|REF_RGD_ID:626167419 10355889 Ltc4s leukotriene C4 synthase gene DOID:2841 asthma onset ISO RGD:733491 D RGD:9068941 20250830 RGD DNA:SNP:promoter:g.-444A>C PMID:19080532|REF_RGD_ID:626168283 10355889 Ltc4s leukotriene C4 synthase gene DOID:2841 asthma treatment ISO RGD:733491 D RGD:9068941 20250828 RGD PMID:12816731|REF_RGD_ID:626168253 10355889 Ltc4s leukotriene C4 synthase gene DOID:2841 asthma treatment ISO RGD:733491 D RGD:9068941 20250904 RGD DNA:SNP:promoter:g.-444A>C PMID:12360108|PMID:17097040|PMID:19703064|REF_RGD_ID:626168273|REF_RGD_ID:626168276|REF_RGD_ID:626419676 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:3526 cerebral infarction ISO RGD:733491 D RGD:9068941 20250830 RGD DNA:SNPs:promoter:g.-444A>C, g.-1072G>A PMID:19280718|REF_RGD_ID:626168270 10355889 Ltc4s leukotriene C4 synthase gene DOID:4481 allergic rhinitis ISO RGD:733491 D RGD:9068941 20250830 RGD DNA:SNP:promoter:g.-444A>C PMID:16730545|REF_RGD_ID:626168264 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:5746 ovarian serous cystadenocarcinoma ISO RGD:733491 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 10355889 Ltc4s leukotriene C4 synthase gene DOID:824 periodontitis treatment ISO RGD:620677 D RGD:9068941 20250918 RGD PMID:33491771|REF_RGD_ID:626469572 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:9002159 Liver Reperfusion Injury ISO RGD:620677 D RGD:9068941 20250906 RGD mRNA:increased expression:liver PMID:17397868|REF_RGD_ID:626419685 10355889 Ltc4s leukotriene C4 synthase gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:620677 D RGD:9068941 20250906 RGD PMID:17194456|REF_RGD_ID:1599839 10355889 Ltc4s leukotriene C4 synthase gene DOID:9003505 Venous Thromboembolism ISO RGD:733491 D RGD:9068941 20250830 RGD DNA:mutations:intron, exons:multiple PMID:20456754|REF_RGD_ID:626168272 10355889 Ltc4s leukotriene C4 synthase gene DOID:9004083 Familial Pancreatic Carcinoma ISO RGD:733491 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial pancreatic carcinoma 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 10355889 Ltc4s leukotriene C4 synthase gene DOID:9005930 Endotoxemia ISO RGD:620677 D RGD:9068941 20250906 RGD mRNA, protein:increased expression:multiple PMID:15619010|REF_RGD_ID:2316620 10355889 Ltc4s leukotriene C4 synthase gene DOID:9006771 Chronic Rhinosinusitis ISO RGD:733491 D RGD:9068941 20250830 RGD mRNA:increased expression:sinonasal mucosa PMID:15940133|REF_RGD_ID:626168282 10355889 Ltc4s leukotriene C4 synthase gene DOID:9006956 nephrotoxicity ISO RGD:620677 D RGD:9068941 20250918 RGD mRNA, protein:increased expression:kidney PMID:28502039|REF_RGD_ID:626469569 10355889 Ltc4s leukotriene C4 synthase gene DOID:9007575 chronic rhinosinusitis with nasal polyps treatment ISO RGD:733492 D RGD:9068941 20250904 RGD PMID:23751068|REF_RGD_ID:626419675 10355889 Ltc4s leukotriene C4 synthase gene DOID:9008952 Breast Cancer, Familial ISO RGD:733491 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 10355889 Ltc4s leukotriene C4 synthase gene DOID:9415 allergic asthma ISO RGD:733491 D RGD:9068941 20250828 RGD DNA:SNP, haplotype: :1072G>A (rs3776944) PMID:22722751|REF_RGD_ID:626168257 10356953 Cracd capping protein inhibiting regulator of actin dynamics gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:2303430 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 10356953 Cracd capping protein inhibiting regulator of actin dynamics gene DOID:0060058 lymphoma ISO RGD:2303430 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lymphoma 10356953 Cracd capping protein inhibiting regulator of actin dynamics gene DOID:10534 stomach cancer ISO RGD:2303430 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 10356953 Cracd capping protein inhibiting regulator of actin dynamics gene DOID:1909 melanoma ISO RGD:2303430 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 10356953 Cracd capping protein inhibiting regulator of actin dynamics gene DOID:4362 cervical cancer ISO RGD:2303430 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 10356953 Cracd capping protein inhibiting regulator of actin dynamics gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:2303430 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 10356953 Cracd capping protein inhibiting regulator of actin dynamics gene DOID:684 hepatocellular carcinoma ISO RGD:2303430 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 10356953 Cracd capping protein inhibiting regulator of actin dynamics gene DOID:9008952 Breast Cancer, Familial ISO RGD:2303430 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 10356953 Cracd capping protein inhibiting regulator of actin dynamics gene DOID:9119 acute myeloid leukemia ISO RGD:2303430 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 10358960 Znf772 zinc finger protein 772 gene DOID:10283 prostate cancer ISO RGD:1606077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prostate cancer PMID:23265383 10358960 Znf772 zinc finger protein 772 gene DOID:10283 prostate cancer ISO RGD:1606077 D RGD:8554872 20250729 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 10358960 Znf772 zinc finger protein 772 gene DOID:234 colon adenocarcinoma ISO RGD:1606077 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 10358960 Znf772 zinc finger protein 772 gene DOID:3070 high grade glioma ISO RGD:1606077 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Glioma susceptibility 1 10358960 Znf772 zinc finger protein 772 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1606077 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 10358960 Znf772 zinc finger protein 772 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1606077 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 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:12930 dilated cardiomyopathy ISO RGD:1606780 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy 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: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:9009121 lung metastasis ISO RGD:1606780 D RGD:9068941 20220826 RGD human cells in mouse model PMID:33833989|REF_RGD_ID:153344568 10359842 Rpl6 ribosomal protein L6 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:733694 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 10359842 Rpl6 ribosomal protein L6 gene DOID:10534 stomach cancer ISO RGD:733694 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 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:1909 melanoma ISO RGD:733694 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 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:4362 cervical cancer ISO RGD:733694 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 10359842 Rpl6 ribosomal protein L6 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:733694 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 10359842 Rpl6 ribosomal protein L6 gene DOID:684 hepatocellular carcinoma ISO RGD:733694 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 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 10359842 Rpl6 ribosomal protein L6 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:733694 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 10360993 Hoxd9 homeobox D9 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1354432 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 10360993 Hoxd9 homeobox D9 gene DOID:1324 lung cancer ISO RGD:1354432 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 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:3907 lung squamous cell carcinoma ISO RGD:1354432 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma 10360993 Hoxd9 homeobox D9 gene DOID:4362 cervical cancer ISO RGD:1354432 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 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 10360993 Hoxd9 homeobox D9 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1354432 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 10361010 Zscan25 zinc finger and SCAN domain containing 25 gene DOID:1324 lung cancer ISO RGD:1318498 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 10361010 Zscan25 zinc finger and SCAN domain containing 25 gene DOID:1909 melanoma ISO RGD:1318498 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 10361010 Zscan25 zinc finger and SCAN domain containing 25 gene DOID:4362 cervical cancer ISO RGD:1318498 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 10361010 Zscan25 zinc finger and SCAN domain containing 25 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1318498 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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:0060058 lymphoma ISO RGD:737005 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lymphoma 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: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: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:4450 renal cell carcinoma ISO RGD:737005 D RGD:9068941 20251106 CTD CTD Direct Evidence: marker/mechanism PMID:39294077 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: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:9001878 Disorders of Environmental Origin ISO RGD:2729 D RGD:9068941 20250717 RGD associated with BBOP exposure; mRNA, protein:decreased expression:adrenal cortex PMID:35762508|REF_RGD_ID:617212669 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: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:9008952 Breast Cancer, Familial ISO RGD:737005 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 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: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:0050117 disease by infectious agent ISO RGD:733391 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Recurrent infections 10364987 Scaf1 SR-related CTD associated factor 1 gene DOID:0060930 developmental dysplasia of the hip ISO RGD:733391 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Developmental dysplasia of the hip 10364987 Scaf1 SR-related CTD associated factor 1 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:733391 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus 10364987 Scaf1 SR-related CTD associated factor 1 gene DOID:11830 myopia ISO RGD:733391 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Myopia 10364987 Scaf1 SR-related CTD associated factor 1 gene DOID:12176 goiter ISO RGD:733391 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Goiter 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:1324 lung cancer ISO RGD:733391 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 10364987 Scaf1 SR-related CTD associated factor 1 gene DOID:1969 cerebral palsy ISO RGD:733391 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cerebral palsy 10364987 Scaf1 SR-related CTD associated factor 1 gene DOID:2841 asthma ISO RGD:733391 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Asthma 10364987 Scaf1 SR-related CTD associated factor 1 gene DOID:4362 cervical cancer ISO RGD:733391 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 10364987 Scaf1 SR-related CTD associated factor 1 gene DOID:5041 esophageal cancer ISO RGD:733391 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 10364987 Scaf1 SR-related CTD associated factor 1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:733391 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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 10364987 Scaf1 SR-related CTD associated factor 1 gene DOID:7998 hyperthyroidism ISO RGD:733391 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hyperthyroidism 10364987 Scaf1 SR-related CTD associated factor 1 gene DOID:824 periodontitis ISO RGD:733391 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Periodontitis 10364987 Scaf1 SR-related CTD associated factor 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:733391 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia 10364987 Scaf1 SR-related CTD associated factor 1 gene DOID:9000808 Hypercholesterolemia ISO RGD:733391 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia 10364987 Scaf1 SR-related CTD associated factor 1 gene DOID:9001276 Failure to Thrive ISO RGD:733391 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Failure to thrive 10364987 Scaf1 SR-related CTD associated factor 1 gene DOID:9001510 Funnel Chest ISO RGD:733391 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Pectus excavatum 10364987 Scaf1 SR-related CTD associated factor 1 gene DOID:9002182 Cafe au lait Spots, Multiple ISO RGD:733391 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cafe au lait spots, multiple 10364987 Scaf1 SR-related CTD associated factor 1 gene DOID:9003507 Premature Birth ISO RGD:733391 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Premature birth 10364987 Scaf1 SR-related CTD associated factor 1 gene DOID:9003539 Hyperacusis ISO RGD:733391 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hyperacusis 10364987 Scaf1 SR-related CTD associated factor 1 gene DOID:9004538 Hearing Loss ISO RGD:733391 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hearing impairment 10364987 Scaf1 SR-related CTD associated factor 1 gene DOID:9005077 Joint Instability ISO RGD:733391 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Joint hypermobility 10364987 Scaf1 SR-related CTD associated factor 1 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:733391 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 10364987 Scaf1 SR-related CTD associated factor 1 gene DOID:9007661 Dwarfism ISO RGD:733391 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Short stature 10364987 Scaf1 SR-related CTD associated factor 1 gene DOID:9008023 Memory Disorders ISO RGD:733391 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Memory impairment 10364987 Scaf1 SR-related CTD associated factor 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:733391 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 10364987 Scaf1 SR-related CTD associated factor 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:733391 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus 10364987 Scaf1 SR-related CTD associated factor 1 gene DOID:9970 obesity ISO RGD:733391 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Obesity 10368661 LOC106149796 chromosome unknown open reading frame, human C2orf72 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:2298740 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 10368661 LOC106149796 chromosome unknown open reading frame, human C2orf72 gene DOID:9008952 Breast Cancer, Familial ISO RGD:2298740 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Breast cancer, familial 10371996 Fkbpl FKBP prolyl isomerase like gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1353952 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 10371996 Fkbpl FKBP prolyl isomerase like gene DOID:684 hepatocellular carcinoma ISO RGD:1353952 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 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 10378497 Dcd dermcidin gene DOID:9008952 Breast Cancer, Familial ISO RGD:1349389 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 10379226 Sco2 synthesis of cytochrome C oxidase 2 gene DOID:0050700 cardiomyopathy ISO RGD:1347479 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16326995 10379226 Sco2 synthesis of cytochrome C oxidase 2 gene DOID:0070491 mitochondrial complex IV deficiency nuclear type 1 ISO RGD:1347479 D RGD:8554872 20250722 ClinVar ClinVar Annotator: match by term: Mitochondrial complex IV deficiency, nuclear type 1 PMID:25741868 10379226 Sco2 synthesis of cytochrome C oxidase 2 gene DOID:0080119 mitochondrial DNA depletion syndrome 1 ISO RGD:127232614|RGD:8661028|RGD:8691614|RGD:8692818|RGD:8692820|RGD:8692821|RGD:8692822 D RGD:9068941 20260604 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:25741868|PMID:28492532 10379226 Sco2 synthesis of cytochrome C oxidase 2 gene DOID:0080127 mitochondrial DNA depletion syndrome 8A ISO RGD:10410120|RGD:10410587|RGD:11627140|RGD:11665671|RGD:12906389|RGD:40905622|RGD:40905623|RGD:40905624|RGD:8691615|RGD:8691616 D RGD:9068941 20260604 ClinVar ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION | ClinVar Annotator: match by term: Thymidine phosphorylase deficiency 10379226 Sco2 synthesis of cytochrome C oxidase 2 gene DOID:0080357 mitochondrial complex IV deficiency nuclear type 2 ISO RGD:1347479 D RGD:7240710 20180130 OMIM 10379226 Sco2 synthesis of cytochrome C oxidase 2 gene DOID:0080357 mitochondrial complex IV deficiency nuclear type 2 ISO RGD:1347479 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 10379226 Sco2 synthesis of cytochrome C oxidase 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1347479 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11027508|PMID:14970747 10379226 Sco2 synthesis of cytochrome C oxidase 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1347479 D RGD:9068941 20200609 RGD PMID:10749987|REF_RGD_ID:1580020 10379226 Sco2 synthesis of cytochrome C oxidase 2 gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:1347479 D RGD:9068941 20260604 CTD CTD Direct Evidence: marker/mechanism PMID:11027508|PMID:16326995 10379226 Sco2 synthesis of cytochrome C oxidase 2 gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:1347479 D RGD:9068941 20260604 RGD PMID:10749987|REF_RGD_ID:1580020 10379226 Sco2 synthesis of cytochrome C oxidase 2 gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:2302344 D RGD:9068941 20260604 MouseDO OMIM:220110 10379226 Sco2 synthesis of cytochrome C oxidase 2 gene DOID:890 mitochondrial encephalomyopathy ISO RGD:1347479 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16326995|PMID:23345593 10379226 Sco2 synthesis of cytochrome C oxidase 2 gene DOID:9001488 Human Influenza ISO RGD:1347479 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 10379226 Sco2 synthesis of cytochrome C oxidase 2 gene DOID:9004853 Myopia 6 ISO RGD:1347479 D RGD:7240710 20180130 OMIM 10379226 Sco2 synthesis of cytochrome C oxidase 2 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 10379234 Znf565 zinc finger protein 565 gene DOID:6171 uterine carcinosarcoma ISO RGD:1344264 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 10379234 Znf565 zinc finger protein 565 gene DOID:684 hepatocellular carcinoma ISO RGD:1344264 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 10379602 Homez homeobox and leucine zipper encoding gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:735425 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 10379602 Homez homeobox and leucine zipper encoding gene DOID:9008952 Breast Cancer, Familial ISO RGD:735425 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 10381358 Stmp1 short transmembrane mitochondrial protein 1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:5480038 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 10381358 Stmp1 short transmembrane mitochondrial protein 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:5480038 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 10381358 Stmp1 short transmembrane mitochondrial protein 1 gene DOID:9119 acute myeloid leukemia ISO RGD:5480038 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 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:1115 sarcoma ISO RGD:1342482 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 10388026 Prss57 serine protease 57 gene DOID:2843 long QT syndrome ISO RGD:1342482 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10388026 Prss57 serine protease 57 gene DOID:9119 acute myeloid leukemia ISO RGD:1342482 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 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 10392057 Cdc25c cell division cycle 25C gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1323559 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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: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:10534 stomach cancer ISO RGD:1323559 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 10392057 Cdc25c cell division cycle 25C gene DOID:1115 sarcoma ISO RGD:1323559 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 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:2394 ovarian cancer ISO RGD:1323559 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian cancer 10392057 Cdc25c cell division cycle 25C gene DOID:4362 cervical cancer ISO RGD:1323559 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 10392057 Cdc25c cell division cycle 25C gene DOID:5041 esophageal cancer ISO RGD:1323559 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 10392057 Cdc25c cell division cycle 25C gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1323559 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 10392057 Cdc25c cell division cycle 25C gene DOID:6171 uterine carcinosarcoma ISO RGD:1323559 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 10392057 Cdc25c cell division cycle 25C gene DOID:684 hepatocellular carcinoma ISO RGD:1323559 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma | ClinVar Annotator: match by term: LIVER CELL CARCINOMA 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 8699521 Tex30 testis expressed 30 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1605014 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8699521 Tex30 testis expressed 30 gene DOID:3275 thymoma ISO RGD:1605014 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8699521 Tex30 testis expressed 30 gene DOID:4362 cervical cancer ISO RGD:1605014 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8699521 Tex30 testis expressed 30 gene DOID:5041 esophageal cancer ISO RGD:1605014 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8699521 Tex30 testis expressed 30 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1605014 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8699521 Tex30 testis expressed 30 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1605014 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8699521 Tex30 testis expressed 30 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1605014 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 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: Prostate cancer PMID:23265383 8699537 Entrep1 endosomal transmembrane epsin interactor 1 gene DOID:10283 prostate cancer ISO RGD:1316770 D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 8699537 Entrep1 endosomal transmembrane epsin interactor 1 gene DOID:1324 lung cancer ISO RGD:1316770 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8699537 Entrep1 endosomal transmembrane epsin interactor 1 gene DOID:1909 melanoma ISO RGD:1316770 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8699537 Entrep1 endosomal transmembrane epsin interactor 1 gene DOID:3070 high grade glioma ISO RGD:1316770 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Glioma susceptibility 1 8699537 Entrep1 endosomal transmembrane epsin interactor 1 gene DOID:4362 cervical cancer ISO RGD:1316770 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8699537 Entrep1 endosomal transmembrane epsin interactor 1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1316770 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8699537 Entrep1 endosomal transmembrane epsin interactor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1316770 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8699537 Entrep1 endosomal transmembrane epsin interactor 1 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1316770 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8699537 Entrep1 endosomal transmembrane epsin interactor 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1316770 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8699556 Ephx2 epoxide hydrolase 2 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:731054 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8699556 Ephx2 epoxide hydrolase 2 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:731054 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8699556 Ephx2 epoxide hydrolase 2 gene DOID:0051061 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:0051061 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:0051061 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:0051064 left ventricular failure ISO RGD:731054 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19834332 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:10534 stomach cancer ISO RGD:731054 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 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:1115 sarcoma ISO RGD:731054 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 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:1324 lung cancer ISO RGD:731054 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 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: Familial hypercholesterolemia | 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:13810 familial hypercholesterolemia ISO RGD:731054 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 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:1909 melanoma ISO RGD:731054 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 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:234 colon adenocarcinoma ISO RGD:731054 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 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:3275 thymoma ISO RGD:731054 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 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:4362 cervical cancer ISO RGD:731054 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8699556 Ephx2 epoxide hydrolase 2 gene DOID:5041 esophageal cancer ISO RGD:731054 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 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:5746 ovarian serous cystadenocarcinoma ISO RGD:731054 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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:6039 uveal melanoma ISO RGD:731054 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uveal melanoma 8699556 Ephx2 epoxide hydrolase 2 gene DOID:6171 uterine carcinosarcoma ISO RGD:731054 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 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: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:9005024 Hereditary Adrenocortical Carcinoma ISO RGD:731054 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary 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:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:731054 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 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 8699556 Ephx2 epoxide hydrolase 2 gene DOID:9008952 Breast Cancer, Familial ISO RGD:731054 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8699556 Ephx2 epoxide hydrolase 2 gene DOID:9256 colorectal cancer ISO RGD:731054 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colorectal cancer 8699603 Pank4 pantothenate kinase 4 (inactive) gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:731329 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8699603 Pank4 pantothenate kinase 4 (inactive) gene DOID:10534 stomach cancer ISO RGD:731329 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8699603 Pank4 pantothenate kinase 4 (inactive) gene DOID:1909 melanoma ISO RGD:731329 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8699603 Pank4 pantothenate kinase 4 (inactive) gene DOID:3275 thymoma ISO RGD:731329 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8699603 Pank4 pantothenate kinase 4 (inactive) gene DOID:4467 clear cell renal cell carcinoma ISO RGD:731329 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 8699603 Pank4 pantothenate kinase 4 (inactive) gene DOID:5041 esophageal cancer ISO RGD:731329 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8699603 Pank4 pantothenate kinase 4 (inactive) gene DOID:6039 uveal melanoma ISO RGD:731329 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uveal melanoma 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 20260602 ClinVar ClinVar Annotator: match by term: Cataract 49 PMID:25741868 8699603 Pank4 pantothenate kinase 4 (inactive) gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:731329 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8699603 Pank4 pantothenate kinase 4 (inactive) gene DOID:9008952 Breast Cancer, Familial ISO RGD:731329 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8699603 Pank4 pantothenate kinase 4 (inactive) gene DOID:9119 acute myeloid leukemia ISO RGD:731329 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8699652 Lig1 DNA ligase 1 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:731763 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8699652 Lig1 DNA ligase 1 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:731763 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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 20260602 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 96 | ClinVar Annotator: match by term: Immunodeficiency 96 | ClinVar Annotator: match by term: LIG1-related condition PMID:1581963|PMID:25741868|PMID:28492532|PMID:30395541|PMID:32888943|PMID:32914844|PMID:33444456|PMID:33600799 8699652 Lig1 DNA ligase 1 gene DOID:10534 stomach cancer ISO RGD:731763 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:24033266|PMID:25741868|PMID:28492532 8699652 Lig1 DNA ligase 1 gene DOID:11054 urinary bladder cancer ISO RGD:731763 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8699652 Lig1 DNA ligase 1 gene DOID:1115 sarcoma ISO RGD:731763 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma PMID:25741868|PMID:28492532 8699652 Lig1 DNA ligase 1 gene DOID:1324 lung cancer ISO RGD:731763 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: EGFR-related lung cancer | ClinVar Annotator: match by term: Lung cancer PMID:24033266|PMID:25741868|PMID:28492532 8699652 Lig1 DNA ligase 1 gene DOID:1909 melanoma ISO RGD:731763 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8699652 Lig1 DNA ligase 1 gene DOID:234 colon adenocarcinoma ISO RGD:731763 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma PMID:24033266|PMID:25741868|PMID:28492532 8699652 Lig1 DNA ligase 1 gene DOID:2717 Bloom syndrome ISO RGD:731763 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: DNA Ligase I Deficiency PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 8699652 Lig1 DNA ligase 1 gene DOID:3275 thymoma ISO RGD:731763 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma PMID:24033266|PMID:25741868|PMID:28492532 8699652 Lig1 DNA ligase 1 gene DOID:4362 cervical cancer ISO RGD:731763 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer PMID:24033266|PMID:25741868|PMID:28492532 8699652 Lig1 DNA ligase 1 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:731763 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney PMID:24033266|PMID:25741868|PMID:28492532 8699652 Lig1 DNA ligase 1 gene DOID:4947 cholangiocarcinoma ISO RGD:731763 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma PMID:24033266|PMID:25741868|PMID:28492532 8699652 Lig1 DNA ligase 1 gene DOID:5041 esophageal cancer ISO RGD:731763 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus PMID:24033266|PMID:25741868|PMID:28492532 8699652 Lig1 DNA ligase 1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:731763 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 8699652 Lig1 DNA ligase 1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:731763 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma PMID:24033266|PMID:25741868|PMID:28492532 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:6171 uterine carcinosarcoma ISO RGD:731763 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma PMID:24033266|PMID:25741868|PMID:28492532 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:684 hepatocellular carcinoma ISO RGD:731763 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:24033266|PMID:25741868|PMID:28492532 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 8699652 Lig1 DNA ligase 1 gene DOID:9002720 Splenomegaly ISO RGD:731763 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:1581963|PMID:25741868|PMID:28492532|PMID:30395541|PMID:32914844|PMID:33600799 8699652 Lig1 DNA ligase 1 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:731763 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 PMID:24033266|PMID:25741868|PMID:28492532 8699652 Lig1 DNA ligase 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:731763 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8699652 Lig1 DNA ligase 1 gene DOID:9119 acute myeloid leukemia ISO RGD:731763 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:24033266|PMID:25741868|PMID:28492532 8699706 Dnaaf11 dynein axonemal assembly factor 11 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1351490 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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 20260609 ClinVar ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 19 | ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 19, WITH OR WITHOUT SITUS INVERSUS | ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 19 | ClinVar Annotator: match by term: DNAAF11-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 19 | ClinVar Annotator: match by term: primary ciliary dyskinesia 19 PMID:16199547|PMID:17576681|PMID:19763152|PMID:20301301|PMID:20307669|PMID:22406018|PMID:23122589|PMID:23891469|PMID:25640679|PMID:25741868|PMID:27637300|PMID:28492532|PMID:29429202|PMID:29511670|PMID:30300419|PMID:31650533|PMID:31690835|PMID:36515799|PMID:41062319|PMID:9536098 8699706 Dnaaf11 dynein axonemal assembly factor 11 gene DOID:0110622 primary ciliary dyskinesia 9 ISO RGD:1351490 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Respiratory ciliopathies including non-CF bronchiectasis PMID:25741868|PMID:27637300|PMID:28492532|PMID:36515799 8699706 Dnaaf11 dynein axonemal assembly factor 11 gene DOID:11054 urinary bladder cancer ISO RGD:1351490 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8699706 Dnaaf11 dynein axonemal assembly factor 11 gene DOID:1324 lung cancer ISO RGD:1351490 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8699706 Dnaaf11 dynein axonemal assembly factor 11 gene DOID:1909 melanoma ISO RGD:1351490 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 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:2394 ovarian cancer ISO RGD:1351490 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian cancer 8699706 Dnaaf11 dynein axonemal assembly factor 11 gene DOID:4947 cholangiocarcinoma ISO RGD:1351490 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 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:5520 head and neck squamous cell carcinoma ISO RGD:1351490 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 8699706 Dnaaf11 dynein axonemal assembly factor 11 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1351490 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8699706 Dnaaf11 dynein axonemal assembly factor 11 gene DOID:6406 double outlet right ventricle ISO RGD:1351490 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Double outlet right ventricle PMID:20301301|PMID:23122589|PMID:23527195|PMID:23891469|PMID:25741868|PMID:28492532 8699706 Dnaaf11 dynein axonemal assembly factor 11 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1351490 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8699706 Dnaaf11 dynein axonemal assembly factor 11 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1351490 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:23122589|PMID:23891469|PMID:24307375|PMID:25741868|PMID:26139845|PMID:26228299|PMID:28492532 8699729 Gpnmb glycoprotein nmb gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:736300 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8699729 Gpnmb glycoprotein nmb gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:736300 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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, PRIMARY LOCALIZED CUTANEOUS, 3 | 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:10534 stomach cancer ISO RGD:736300 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8699729 Gpnmb glycoprotein nmb gene DOID:11054 urinary bladder cancer ISO RGD:736300 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 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:3275 thymoma ISO RGD:736300 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 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:5041 esophageal cancer ISO RGD:736300 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8699729 Gpnmb glycoprotein nmb gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:736300 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 8699729 Gpnmb glycoprotein nmb gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:736300 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8699729 Gpnmb glycoprotein nmb gene DOID:630 genetic disease ISO RGD:736300 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 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:9004610 Acute Lung Injury ISO RGD:736300 D RGD:9068941 20250605 CTD CTD Direct Evidence: marker/mechanism PMID:38166464 8699729 Gpnmb glycoprotein nmb gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:736300 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 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 8699729 Gpnmb glycoprotein nmb gene DOID:9008952 Breast Cancer, Familial ISO RGD:736300 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8699748 Stra8 stimulated by retinoic acid 8 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1604701 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8699748 Stra8 stimulated by retinoic acid 8 gene DOID:1324 lung cancer ISO RGD:1604701 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8699748 Stra8 stimulated by retinoic acid 8 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1604701 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 8699748 Stra8 stimulated by retinoic acid 8 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1604701 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8699748 Stra8 stimulated by retinoic acid 8 gene DOID:684 hepatocellular carcinoma ISO RGD:1604701 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8699771 Hps4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1317629 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8699771 Hps4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 gene DOID:0060539 Hermansky-Pudlak syndrome 1 ISO RGD:1317629 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells PMID:12664304|PMID:25741868|PMID:28492532|PMID:29600982|PMID:34838614 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 20260519 ClinVar ClinVar Annotator: match by term: HERMANSKY-PUDLAK SYNDROME 4 | 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:34838614|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:1115 sarcoma ISO RGD:1317629 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8699771 Hps4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 gene DOID:1909 melanoma ISO RGD:1317629 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 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 20260602 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome PMID:12664304|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29600982|PMID:31898847|PMID:34838614 8699771 Hps4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 gene DOID:5041 esophageal cancer ISO RGD:1317629 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 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:5746 ovarian serous cystadenocarcinoma ISO RGD:1317629 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8699771 Hps4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 gene DOID:6171 uterine carcinosarcoma ISO RGD:1317629 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 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 8699771 Hps4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 gene DOID:8778 Crohn's disease ISO RGD:1317629 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Granulomatous colitis PMID:15108212|PMID:25741868 8699771 Hps4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 gene DOID:9001386 Albinism ISO RGD:1317629 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Albinism PMID:12664304|PMID:16199547|PMID:25741868|PMID:28492532|PMID:29600982|PMID:34838614 8699771 Hps4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1317629 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 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:1115 sarcoma ISO RGD:1320012 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 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:6171 uterine carcinosarcoma ISO RGD:1320012 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8699801 Dlx1 distal-less homeobox 1 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1320012 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 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:0050117 disease by infectious agent ISO RGD:1313743 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Recurrent infections PMID:28492532 8699819 Smarce1 SWI/SNF related BAF chromatin remodeling complex subunit E1 gene DOID:0050840 cervical dystonia ISO RGD:1313743 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Torticollis 8699819 Smarce1 SWI/SNF related BAF chromatin remodeling complex subunit E1 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1313743 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma PMID:25741868 8699819 Smarce1 SWI/SNF related BAF chromatin remodeling complex subunit E1 gene DOID:0060249 scoliosis ISO RGD:1313743 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Scoliosis 8699819 Smarce1 SWI/SNF related BAF chromatin remodeling complex subunit E1 gene DOID:0060825 Christianson syndrome ISO RGD:1313743 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Angelman-like syndrome PMID:25741868 8699819 Smarce1 SWI/SNF related BAF chromatin remodeling complex subunit E1 gene DOID:0070480 schwannomatosis 1 ISO RGD:1313743 D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: SWNTS1 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:0080707 medulloblastoma non-WNT/non-SHH group 3 ISO RGD:1313743 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Medulloblastoma non-WNT/non-SHH group 3 PMID:25741868|PMID:26760213|PMID:27993330|PMID:29489754|PMID:32025007 8699819 Smarce1 SWI/SNF related BAF chromatin remodeling complex subunit E1 gene DOID:0112368 Coffin-Siris syndrome 5 ISO RGD:1313743 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 5 | ClinVar Annotator: match by term: Coffin-Siris syndrome 5 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 20260617 OMIM 8699819 Smarce1 SWI/SNF related BAF chromatin remodeling complex subunit E1 gene DOID:1059 intellectual disability ISO RGD:1313743 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532|PMID:35980532 8699819 Smarce1 SWI/SNF related BAF chromatin remodeling complex subunit E1 gene DOID:12849 autistic disorder ISO RGD:1313743 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Autism PMID:28492532|PMID:35980532 8699819 Smarce1 SWI/SNF related BAF chromatin remodeling complex subunit E1 gene DOID:13620 patent foramen ovale ISO RGD:1313743 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Patent foramen ovale 8699819 Smarce1 SWI/SNF related BAF chromatin remodeling complex subunit E1 gene DOID:13832 patent ductus arteriosus ISO RGD:1313743 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Patent ductus arteriosus 8699819 Smarce1 SWI/SNF related BAF chromatin remodeling complex subunit E1 gene DOID:1657 ventricular septal defect ISO RGD:1313743 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ventricular septal defect 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:3069 malignant astrocytoma ISO RGD:1313743 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Astrocytoma 8699819 Smarce1 SWI/SNF related BAF chromatin remodeling complex subunit E1 gene DOID:3459 breast carcinoma ISO RGD:1313743 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Breast carcinoma PMID:28492532 8699819 Smarce1 SWI/SNF related BAF chromatin remodeling complex subunit E1 gene DOID:3565 meningioma ISO RGD:1313743 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Meningioma PMID:17576681|PMID:28492532|PMID:35101336|PMID:9536098 8699819 Smarce1 SWI/SNF related BAF chromatin remodeling complex subunit E1 gene DOID:4210 clear cell meningioma ISO RGD:1313743 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell meningioma PMID:27993330 8699819 Smarce1 SWI/SNF related BAF chromatin remodeling complex subunit E1 gene DOID:4362 cervical cancer ISO RGD:1313743 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8699819 Smarce1 SWI/SNF related BAF chromatin remodeling complex subunit E1 gene DOID:4586 familial meningioma ISO RGD:1313743 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial meningioma | ClinVar Annotator: match by term: MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Meningioma, familial, susceptibility to | ClinVar Annotator: match by term: familial meningioma PMID:16199547|PMID:17576681|PMID:23377182|PMID:23556151|PMID:23929686|PMID:25143307|PMID:25741868|PMID:26803492|PMID:27264197|PMID:27891692|PMID:28474749|PMID:28492532|PMID:29625052|PMID:31675646|PMID:33020650|PMID:34918830|PMID:35681054|PMID:35980532|PMID:37164167|PMID:37350193|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 20260617 OMIM 8699819 Smarce1 SWI/SNF related BAF chromatin remodeling complex subunit E1 gene DOID:480 movement disease ISO RGD:1313743 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Movement disorder PMID:28492532 8699819 Smarce1 SWI/SNF related BAF chromatin remodeling complex subunit E1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1313743 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 8699819 Smarce1 SWI/SNF related BAF chromatin remodeling complex subunit E1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1313743 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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:684 hepatocellular carcinoma ISO RGD:1313743 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8699819 Smarce1 SWI/SNF related BAF chromatin remodeling complex subunit E1 gene DOID:9000123 Deglutition Disorders ISO RGD:1313743 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Dysphagia 8699819 Smarce1 SWI/SNF related BAF chromatin remodeling complex subunit E1 gene DOID:9002278 Metabolic Bone Diseases ISO RGD:1313743 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Osteopenia 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 | 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:35980532|PMID:37500730|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 20250506 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:25169753|PMID:25741868|PMID:26803492|PMID:27891692|PMID:28492532|PMID:29625052|PMID:30209809|PMID:35980532|PMID:37500730|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 20260519 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:17576681|PMID:23377182|PMID:25143307|PMID:25741868|PMID:26803492|PMID:28492532|PMID:30209809|PMID:33651299|PMID:35980532|PMID:37500730|PMID:9536098 8699819 Smarce1 SWI/SNF related BAF chromatin remodeling complex subunit E1 gene DOID:9007722 Myoclonus ISO RGD:1313743 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Myoclonus 8699819 Smarce1 SWI/SNF related BAF chromatin remodeling complex subunit E1 gene DOID:9009021 Plagiocephaly ISO RGD:1313743 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Plagiocephaly 8699819 Smarce1 SWI/SNF related BAF chromatin remodeling complex subunit E1 gene DOID:9009047 Laryngeal Cleft ISO RGD:1313743 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Laryngeal cleft PMID:25741868 8699819 Smarce1 SWI/SNF related BAF chromatin remodeling complex subunit E1 gene DOID:9119 acute myeloid leukemia ISO RGD:1313743 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8699819 Smarce1 SWI/SNF related BAF chromatin remodeling complex subunit E1 gene DOID:9650 pathologic nystagmus ISO RGD:1313743 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nystagmus 8699819 Smarce1 SWI/SNF related BAF chromatin remodeling complex subunit E1 gene DOID:9834 hyperopia ISO RGD:1313743 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hypermetropia PMID:28492532 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 20260602 ClinVar ClinVar Annotator: match by term: Branchiootic dysplasia | ClinVar Annotator: match by term: Branchiootic syndrome PMID:12843324|PMID:15141091|PMID:16652090|PMID:19497856|PMID:21254961|PMID:21280147|PMID:21745464|PMID:24033266|PMID:25741868|PMID:25788563|PMID:28492532|PMID:30311386|PMID:31980437|PMID:34440452|PMID:39498320 8699839 Six1 SIX homeobox 1 gene DOID:0061209 branchiootic syndrome 1 ISO RGD:731648 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: BO 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:0061210 branchiootic syndrome 3 ISO RGD:731648 D RGD:7240710 20180130 OMIM 8699839 Six1 SIX homeobox 1 gene DOID:0061210 branchiootic syndrome 3 ISO RGD:731648 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: BO SYNDROME 3 | ClinVar Annotator: match by term: BRANCHIOOTIC 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:18330911|PMID:19497856|PMID:21254961|PMID:21280147|PMID:21700001|PMID:21745464|PMID:23435380|PMID:24033266|PMID:24164807|PMID:25741868|PMID:25788563|PMID:28492532|PMID:30311386|PMID:31980437|PMID:34440452|PMID:34868248|PMID:34906515|PMID:35802133|PMID:36633841|PMID:37479820|PMID:39498320 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 20260602 ClinVar ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 23 PMID:10777717|PMID:12843324|PMID:15141091|PMID:16652090|PMID:16971658|PMID:18330911|PMID:19497856|PMID:21254961|PMID:21280147|PMID:21700001|PMID:21745464|PMID:23435380|PMID:24033266|PMID:24164807|PMID:25741868|PMID:25788563|PMID:28492532|PMID:28566479|PMID:30311386|PMID:31980437|PMID:34440452|PMID:34906515|PMID:35802133|PMID:36633841|PMID:37479820|PMID:39498320 8699839 Six1 SIX homeobox 1 gene DOID:0111423 branchiootorenal syndrome 1 ISO RGD:731648 D RGD:8554872 20250723 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:25326635|PMID:25741868|PMID:25788563|PMID:28492532|PMID:30311386 8699839 Six1 SIX homeobox 1 gene DOID:0111423 branchiootorenal syndrome 1 ISO RGD:731648 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Branchiootorenal Syndrome 1 PMID:12843324|PMID:15141091|PMID:16652090|PMID:19497856|PMID:21254961|PMID:21280147|PMID:21745464|PMID:25741868|PMID:25788563|PMID:28492532|PMID:30311386|PMID:31980437|PMID:39498320 8699839 Six1 SIX homeobox 1 gene DOID:14702 branchiootorenal syndrome ISO RGD:11603118|RGD:11612534|RGD:11612636|RGD:11621632|RGD:11649467|RGD:11650490 D RGD:9068941 20260604 ClinVar ClinVar Annotator: match by term: Branchiootorenal Spectrum Disorders | ClinVar Annotator: match by term: Melnick-Fraser syndrome 8699839 Six1 SIX homeobox 1 gene DOID:14702 branchiootorenal syndrome ISO RGD:1550080 D RGD:9068941 20260604 MouseDO OMIM:113650 | OMIM:610896 8699839 Six1 SIX homeobox 1 gene DOID:14702 branchiootorenal syndrome ISO RGD:1550080 D RGD:9068941 20260604 RGD DNA:mutation:cds:p.E121G(mouse) PMID:19389353|REF_RGD_ID:8554879 8699839 Six1 SIX homeobox 1 gene DOID:14702 branchiootorenal syndrome ISO RGD:731648 D RGD:9068941 20260604 CTD CTD Direct Evidence: marker/mechanism 8699839 Six1 SIX homeobox 1 gene DOID:14702 branchiootorenal syndrome ISO RGD:731648 D RGD:9068941 20260604 RGD DNA:missense mutations, snp:cds, intron:p.Y129C, p.P249L, c.560+3A>T (human) PMID:21280147|REF_RGD_ID:11064057 8699839 Six1 SIX homeobox 1 gene DOID:14702 branchiootorenal syndrome ISO RGD:731648 D RGD:9068941 20260604 RGD DNA:missense mutations,deletion:A386G(Y129C),C328T(R110W),397_399delGGA(E133del)(human) PMID:15141091|REF_RGD_ID:8554876 8699839 Six1 SIX homeobox 1 gene DOID:14702 branchiootorenal syndrome ISO RGD:731648 D RGD:9068941 20260604 RGD DNA:mutation:cds:c.364T>A (p.W122R)(human) PMID:17637804|REF_RGD_ID:8554880 8699839 Six1 SIX homeobox 1 gene DOID:14702 branchiootorenal syndrome ISO RGD:731648 D RGD:9068941 20260604 RGD DNA:mutations:cds:c.50T>A, c.218A>C, c.317T>G, c.329G>A, c.334C>T (human) PMID:18330911|REF_RGD_ID:8554882 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:4362 cervical cancer ISO RGD:731648 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8699839 Six1 SIX homeobox 1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:731648 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8699839 Six1 SIX homeobox 1 gene DOID:630 genetic disease ISO RGD:731648 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12843324|PMID:15141091|PMID:16652090|PMID:19497856|PMID:21254961|PMID:21280147|PMID:21745464|PMID:25741868|PMID:25788563|PMID:28492532|PMID:30311386|PMID:31980437|PMID:34906515|PMID:39498320 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:9004538 Hearing Loss ISO RGD:731648 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss PMID:10777717|PMID:12843324|PMID:15141091|PMID:16652090|PMID:19497856|PMID:21254961|PMID:21280147|PMID:21700001|PMID:21745464|PMID:23435380|PMID:25741868|PMID:25788563|PMID:28492532|PMID:30311386|PMID:31980437|PMID:34906515|PMID:35802133|PMID:36633841|PMID:37479820|PMID:39498320 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:9008731 Craniofacial Abnormalities ISO RGD:731648 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12834866 8699839 Six1 SIX homeobox 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:731648 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8699845 Prodh2 proline dehydrogenase 2 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1315565 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8699845 Prodh2 proline dehydrogenase 2 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1315565 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 8699845 Prodh2 proline dehydrogenase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1315565 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 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 8699845 Prodh2 proline dehydrogenase 2 gene DOID:9008769 Hydroxyprolinemia ISO RGD:1315565 D RGD:7240710 20260701 OMIM 8699863 Pla2g4f phospholipase A2 group IVF gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1606120 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8699863 Pla2g4f phospholipase A2 group IVF gene DOID:11054 urinary bladder cancer ISO RGD:1606120 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8699863 Pla2g4f phospholipase A2 group IVF gene DOID:1324 lung cancer ISO RGD:1606120 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8699863 Pla2g4f phospholipase A2 group IVF gene DOID:234 colon adenocarcinoma ISO RGD:1606120 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8699863 Pla2g4f phospholipase A2 group IVF gene DOID:3275 thymoma ISO RGD:1606120 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8699863 Pla2g4f phospholipase A2 group IVF gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1606120 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 8699863 Pla2g4f phospholipase A2 group IVF gene DOID:4947 cholangiocarcinoma ISO RGD:1606120 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 8699863 Pla2g4f phospholipase A2 group IVF gene DOID:5041 esophageal cancer ISO RGD:1606120 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8699863 Pla2g4f phospholipase A2 group IVF gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1606120 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 8699863 Pla2g4f phospholipase A2 group IVF gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1606120 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8699863 Pla2g4f phospholipase A2 group IVF gene DOID:6171 uterine carcinosarcoma ISO RGD:1606120 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8699863 Pla2g4f phospholipase A2 group IVF gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1606120 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8699863 Pla2g4f phospholipase A2 group IVF gene DOID:9008952 Breast Cancer, Familial ISO RGD:1606120 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8699863 Pla2g4f phospholipase A2 group IVF gene DOID:9256 colorectal cancer ISO RGD:1606120 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colorectal cancer 8699890 Ssu72 SSU72 homolog, RNA polymerase II CTD phosphatase gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1605688 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8699890 Ssu72 SSU72 homolog, RNA polymerase II CTD phosphatase gene DOID:0110944 autosomal recessive osteopetrosis 4 ISO RGD:1605688 D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: autosomal recessive osteopetrosis 4 PMID:25741868 8699890 Ssu72 SSU72 homolog, RNA polymerase II CTD phosphatase gene DOID:11054 urinary bladder cancer ISO RGD:1605688 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8699890 Ssu72 SSU72 homolog, RNA polymerase II CTD phosphatase gene DOID:1115 sarcoma ISO RGD:1605688 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 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:5746 ovarian serous cystadenocarcinoma ISO RGD:1605688 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8699890 Ssu72 SSU72 homolog, RNA polymerase II CTD phosphatase gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1605688 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8699899 Acads acyl-CoA dehydrogenase short chain gene DOID:0050117 disease by infectious agent ISO RGD:732202 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Recurrent infections PMID:14506246|PMID:1692038|PMID:18523805|PMID:19800078|PMID:25741868|PMID:28454995|PMID:28492532|PMID:9582344 8699899 Acads acyl-CoA dehydrogenase short chain gene DOID:0070309 absence epilepsy ISO RGD:732202 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Generalized non-motor (absence) seizure PMID:25741868|PMID:27051597|PMID:27938594|PMID:28492532|PMID:32710939|PMID:33895855 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 20260616 ClinVar ClinVar Annotator: match by term: ACADS-related condition | ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase | ClinVar Annotator: match by term: SCAD DEFICIENCY | ClinVar Annotator: match by term: SCAD Deficiency | ClinVar Annotator: match by term: short chain acyl-CoA dehydrogenase deficiency 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:18523805|PMID:18676165|PMID:18836889|PMID:18951053|PMID:19800078|PMID:19952864|PMID:20376488|PMID:21170680|PMID:21325261|PMID:21483766|PMID:21500142|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:31620161|PMID:31813752|PMID:31847883|PMID:31980526|PMID:32447334|PMID:32710939|PMID:32778825|PMID:32793418|PMID:32802992|PMID:33391346|PMID:33895855|PMID:34394177|PMID:34869113|PMID:35095998|PMID:35193651|PMID:36207829|PMID:38061323|PMID:38103157|PMID:38187300|PMID:38784038|PMID:39449356|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:1059 intellectual disability ISO RGD:732202 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:12736383|PMID:16546179|PMID:18523805|PMID:18676165|PMID:22241096|PMID:23798014|PMID:25741868|PMID:28492532|PMID:31813752|PMID:32793418|PMID:38103157|PMID:9499414 8699899 Acads acyl-CoA dehydrogenase short chain gene DOID:12849 autistic disorder ISO RGD:732202 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Autism PMID:12736383|PMID:16546179|PMID:18523805|PMID:18676165|PMID:22241096|PMID:23798014|PMID:25741868|PMID:28492532|PMID:31813752|PMID:32793418|PMID:38103157|PMID:9499414 8699899 Acads acyl-CoA dehydrogenase short chain gene DOID:1287 cardiovascular system disease ISO RGD:732202 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Abnormality of the cardiovascular system PMID:19800078|PMID:25741868|PMID:28492532 8699899 Acads acyl-CoA dehydrogenase short chain gene DOID:1324 lung cancer ISO RGD:732202 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer PMID:16926354|PMID:18676165|PMID:19952864|PMID:22241096|PMID:23798014|PMID:25741868|PMID:26055667|PMID:28492532|PMID:32793418 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:1596 depressive disorder ISO RGD:732202 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Depression PMID:19800078|PMID:25741868|PMID:28492532|PMID:32710939|PMID:32778825 8699899 Acads acyl-CoA dehydrogenase short chain gene DOID:1826 epilepsy ISO RGD:732202 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Seizure PMID:14506246|PMID:1692038|PMID:16926354|PMID:18523805|PMID:18676165|PMID:19952864|PMID:22241096|PMID:23798014|PMID:25741868|PMID:26055667|PMID:28454995|PMID:28492532|PMID:32793418|PMID:9582344 8699899 Acads acyl-CoA dehydrogenase short chain gene DOID:1909 melanoma ISO RGD:732202 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Melanoma PMID:19800078|PMID:25741868|PMID:28492532 8699899 Acads acyl-CoA dehydrogenase short chain gene DOID:1969 cerebral palsy ISO RGD:732202 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:19800078|PMID:25741868|PMID:28492532 8699899 Acads acyl-CoA dehydrogenase short chain gene DOID:2030 anxiety disorder ISO RGD:732202 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Anxiety PMID:19800078|PMID:25741868|PMID:28492532|PMID:32710939|PMID:32778825 8699899 Acads acyl-CoA dehydrogenase short chain gene DOID:234 colon adenocarcinoma ISO RGD:732202 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma PMID:16926354|PMID:18676165|PMID:19952864|PMID:22241096|PMID:23798014|PMID:25741868|PMID:26055667|PMID:28492532|PMID:32793418 8699899 Acads acyl-CoA dehydrogenase short chain gene DOID:3087 gingivitis ISO RGD:732202 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Gingivitis PMID:19800078|PMID:25741868|PMID:28492532 8699899 Acads acyl-CoA dehydrogenase short chain gene DOID:3275 thymoma ISO RGD:732202 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8699899 Acads acyl-CoA dehydrogenase short chain gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:732202 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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 20260616 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12736383|PMID:14506246|PMID:16546179|PMID:1692038|PMID:16926354|PMID:18523805|PMID:18676165|PMID:19952864|PMID:22241096|PMID:23798014|PMID:25741868|PMID:26055667|PMID:28454995|PMID:28492532|PMID:31813752|PMID:32793418|PMID:38103157|PMID:9499414|PMID:9582344 8699899 Acads acyl-CoA dehydrogenase short chain gene DOID:7998 hyperthyroidism ISO RGD:732202 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hyperthyroidism PMID:25741868|PMID:28492532|PMID:32710939|PMID:32778825 8699899 Acads acyl-CoA dehydrogenase short chain gene DOID:9000064 Cardiac Arrhythmias ISO RGD:732202 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:19800078|PMID:25741868|PMID:28492532 8699899 Acads acyl-CoA dehydrogenase short chain gene DOID:9000351 Diarrhea 9 ISO RGD:732202 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Chronic diarrhea PMID:14506246|PMID:1692038|PMID:18523805|PMID:25741868|PMID:28454995|PMID:28492532|PMID:9582344 8699899 Acads acyl-CoA dehydrogenase short chain gene DOID:9000884 Rhabdomyolysis ISO RGD:732202 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Rhabdomyolysis PMID:12736383|PMID:16546179|PMID:18523805|PMID:18676165|PMID:22241096|PMID:23798014|PMID:25741868|PMID:28492532|PMID:31813752|PMID:32793418|PMID:38103157|PMID:9499414 8699899 Acads acyl-CoA dehydrogenase short chain gene DOID:9001276 Failure to Thrive ISO RGD:732202 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:14506246|PMID:1692038|PMID:18523805|PMID:25741868|PMID:28454995|PMID:28492532|PMID:9582344 8699899 Acads acyl-CoA dehydrogenase short chain gene DOID:9001733 Tinnitus ISO RGD:732202 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Tinnitus PMID:19800078|PMID:25741868|PMID:28492532 8699899 Acads acyl-CoA dehydrogenase short chain gene DOID:9002182 Cafe au lait Spots, Multiple ISO RGD:732202 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cafe au lait spots, multiple PMID:25741868|PMID:28492532|PMID:32710939|PMID:32778825 8699899 Acads acyl-CoA dehydrogenase short chain gene DOID:9002775 Cognitive Dysfunction ISO RGD:732202 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Cognitive impairment PMID:19800078|PMID:25741868|PMID:28492532 8699899 Acads acyl-CoA dehydrogenase short chain gene DOID:9003507 Premature Birth ISO RGD:732202 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Premature birth PMID:19800078|PMID:25741868|PMID:28492532 8699899 Acads acyl-CoA dehydrogenase short chain gene DOID:9003539 Hyperacusis ISO RGD:732202 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Hyperacusis PMID:19800078|PMID:25741868|PMID:28492532 8699899 Acads acyl-CoA dehydrogenase short chain gene DOID:9003760 Myalgia ISO RGD:732202 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Myalgia PMID:25741868|PMID:27051597|PMID:27938594|PMID:28492532|PMID:32710939|PMID:33895855 8699899 Acads acyl-CoA dehydrogenase short chain gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732202 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality PMID:16926354|PMID:18676165|PMID:19952864|PMID:22241096|PMID:23798014|PMID:25741868|PMID:26055667|PMID:28492532|PMID:32793418 8699899 Acads acyl-CoA dehydrogenase short chain gene DOID:9005077 Joint Instability ISO RGD:732202 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Joint hypermobility PMID:19800078|PMID:25741868|PMID:28492532 8699899 Acads acyl-CoA dehydrogenase short chain gene DOID:9005532 Muscle Weakness ISO RGD:732202 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Muscle weakness PMID:25741868|PMID:27051597|PMID:27938594|PMID:28492532|PMID:32710939|PMID:33895855 8699899 Acads acyl-CoA dehydrogenase short chain gene DOID:9005603 Muscle Hypotonia ISO RGD:732202 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia PMID:19800078|PMID:25741868|PMID:28492532|PMID:32710939|PMID:32778825 8699899 Acads acyl-CoA dehydrogenase short chain gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:732202 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8699899 Acads acyl-CoA dehydrogenase short chain gene DOID:9007736 Vertigo ISO RGD:732202 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Vertigo PMID:19800078|PMID:25741868|PMID:28492532 8699899 Acads acyl-CoA dehydrogenase short chain gene DOID:9008023 Memory Disorders ISO RGD:732202 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Memory impairment PMID:19800078|PMID:25741868|PMID:28492532|PMID:32710939|PMID:32778825 8699899 Acads acyl-CoA dehydrogenase short chain gene DOID:9008086 Developmental Disabilities ISO RGD:732202 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:14506246|PMID:1692038|PMID:18523805|PMID:25741868|PMID:28454995|PMID:28492532|PMID:9582344 8699899 Acads acyl-CoA dehydrogenase short chain gene DOID:9008952 Breast Cancer, Familial ISO RGD:732202 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:16926354|PMID:18676165|PMID:19952864|PMID:22241096|PMID:23798014|PMID:25741868|PMID:26055667|PMID:28492532|PMID:32793418 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:0050939 uterine corpus endometrial carcinoma ISO RGD:68475 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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:1324 lung cancer ISO RGD:68475 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8699912 Fads2 fatty acid desaturase 2 gene DOID:1909 melanoma ISO RGD:68475 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8699912 Fads2 fatty acid desaturase 2 gene DOID:234 colon adenocarcinoma ISO RGD:68475 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 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:5041 esophageal cancer ISO RGD:68475 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8699912 Fads2 fatty acid desaturase 2 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:68475 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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:6171 uterine carcinosarcoma ISO RGD:68475 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8699912 Fads2 fatty acid desaturase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:68475 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 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:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:68475 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 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:0050387 nonpapillary renal cell carcinoma ISO RGD:1604367 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 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:10534 stomach cancer ISO RGD:1604367 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8699929 Utp25 UTP25 small subunit processome component gene DOID:2394 ovarian cancer ISO RGD:1604367 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian cancer 8699929 Utp25 UTP25 small subunit processome component gene DOID:4362 cervical cancer ISO RGD:1604367 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8699929 Utp25 UTP25 small subunit processome component gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1604367 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8699929 Utp25 UTP25 small subunit processome component gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1604367 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8699929 Utp25 UTP25 small subunit processome component gene DOID:9008952 Breast Cancer, Familial ISO RGD:1604367 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8699929 Utp25 UTP25 small subunit processome component gene DOID:9119 acute myeloid leukemia ISO RGD:1604367 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8699929 Utp25 UTP25 small subunit processome component gene DOID:9256 colorectal cancer ISO RGD:1604367 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colorectal cancer 8699973 Adcy10 adenylate cyclase 10 gene DOID:10534 stomach cancer ISO RGD:737484 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:25741868|PMID:28492532 8699973 Adcy10 adenylate cyclase 10 gene DOID:11054 urinary bladder cancer ISO RGD:737484 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8699973 Adcy10 adenylate cyclase 10 gene DOID:1115 sarcoma ISO RGD:737484 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma PMID:25741868|PMID:28492532 8699973 Adcy10 adenylate cyclase 10 gene DOID:1909 melanoma ISO RGD:737484 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma PMID:25741868|PMID:28492532 8699973 Adcy10 adenylate cyclase 10 gene DOID:3275 thymoma ISO RGD:737484 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8699973 Adcy10 adenylate cyclase 10 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:737484 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney PMID:25741868|PMID:28492532 8699973 Adcy10 adenylate cyclase 10 gene DOID:4947 cholangiocarcinoma ISO RGD:737484 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 8699973 Adcy10 adenylate cyclase 10 gene DOID:5041 esophageal cancer ISO RGD:737484 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8699973 Adcy10 adenylate cyclase 10 gene DOID:684 hepatocellular carcinoma ISO RGD:737484 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 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 20260602 ClinVar ClinVar Annotator: match by term: ADCY10-related condition | ClinVar Annotator: match by term: Familial idiopathic hypercalciuria | ClinVar Annotator: match by term: HYPERCALCIURIA, ABSORPTIVE, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Hypercalciuria, absorptive, susceptibility to PMID:25741868|PMID:28492532|PMID:31119281 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:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:737484 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 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:9008952 Breast Cancer, Familial ISO RGD:737484 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8700011 Dctn3 dynactin subunit 3 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1319944 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8700011 Dctn3 dynactin subunit 3 gene DOID:1324 lung cancer ISO RGD:1319944 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8700011 Dctn3 dynactin subunit 3 gene DOID:234 colon adenocarcinoma ISO RGD:1319944 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8700011 Dctn3 dynactin subunit 3 gene DOID:5041 esophageal cancer ISO RGD:1319944 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8700011 Dctn3 dynactin subunit 3 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1319944 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8700066 Ubl3 ubiquitin like 3 gene DOID:10534 stomach cancer ISO RGD:1313456 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8700066 Ubl3 ubiquitin like 3 gene DOID:1115 sarcoma ISO RGD:1313456 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8700066 Ubl3 ubiquitin like 3 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1313456 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:0050451 Brugada syndrome ISO RGD:10268 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:20817017|PMID:23861362|PMID:25260352|PMID:25741868|PMID:28492532|PMID:30172029|PMID:30662450|PMID:34163037|PMID:36007726 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:0050562 West syndrome ISO RGD:10268 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Infantile spasms PMID:25741868 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: Cardiomyopathy 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:0050700 cardiomyopathy ISO RGD:10268 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cardiomyopathy 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:8640341 D RGD:9068941 20260521 ClinVar ClinVar Annotator: match by term: Short QT syndrome PMID:20031608|PMID:20817017|PMID:22840528|PMID:23861362|PMID:25447171|PMID:25633834|PMID:28492532 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:10268 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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 | ClinVar Annotator: match by term: Autism spectrum disorders 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 20260602 ClinVar ClinVar Annotator: match by term: CACNA1C-Related Disorder | ClinVar Annotator: match by term: CACNA1C-related disorder | ClinVar Annotator: match by term: LONG QT SYNDROME WITH SYNDACTYLY | ClinVar Annotator: match by term: Long QT syndrome with syndactyly | ClinVar Annotator: match by term: TIMOTHY SYNDROME | ClinVar Annotator: match by term: Timothy syndrome | ClinVar Annotator: match by term: Timothy syndrome type 1 PMID:10343407|PMID:15454078|PMID:15863612|PMID:16360093|PMID:17224476|PMID:18250309|PMID:19074970|PMID:20543828|PMID:20817017|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22020278|PMID:22106044|PMID:22990809|PMID:23313911|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23678275|PMID:23690510|PMID:23861362|PMID:23979604|PMID:24773605|PMID:25260352|PMID:25500949|PMID:25633834|PMID:25691416|PMID:25741868|PMID:26227324|PMID:26253506|PMID:26301350|PMID:26637798|PMID:26822303|PMID:27593853|PMID:27868338|PMID:27925203|PMID:28211989|PMID:28371864|PMID:28492532|PMID:28600387|PMID:29071820|PMID:30025578|PMID:30172029|PMID:30345660|PMID:30513141|PMID:30662450|PMID:30984024|PMID:31004778|PMID:31110529|PMID:31408100|PMID:31430211|PMID:32161207|PMID:32233023|PMID:33488405|PMID:33797204|PMID:34163037|PMID:34495297|PMID:35862440|PMID:36007726|PMID:37227348|PMID:38254962 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:0060249 scoliosis ISO RGD:10268 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Scoliosis PMID:25741868 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:0060305 megalocornea ISO RGD:10268 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Megalocornea 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:0060930 developmental dysplasia of the hip ISO RGD:10268 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Developmental dysplasia of the hip PMID:25741868 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 20260602 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | 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:21878566|PMID:21910241|PMID:23313911|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23678275|PMID:23690510|PMID:25260352|PMID:25741868|PMID:26227324|PMID:26822303|PMID:27593853|PMID:27868338|PMID:28211989|PMID:28371864|PMID:28492532|PMID:32233023|PMID:34163037 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:0080454 developmental and epileptic encephalopathy 42 ISO RGD:10268 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 42 PMID:25741868 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 20260602 ClinVar ClinVar Annotator: match by term: BRUGADA SYNDROME 3 | ClinVar Annotator: match by term: Brugada syndrome 3 PMID:15454078|PMID:15863612|PMID:16360093|PMID:17224476|PMID:18250309|PMID:19074970|PMID:20817017|PMID:21878566|PMID:21910241|PMID:22385640|PMID:22990809|PMID:23313911|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23678275|PMID:23690510|PMID:23861362|PMID:25500949|PMID:25741868|PMID:26227324|PMID:26301350|PMID:26637798|PMID:26822303|PMID:27593853|PMID:27868338|PMID:27925203|PMID:28211989|PMID:28371864|PMID:28492532|PMID:28600387|PMID:30345660|PMID:32233023|PMID:33488405|PMID:34495297|PMID:37227348 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:10268 D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 PMID:25741868|PMID:26253506|PMID:28492532|PMID:30025578|PMID:30172029|PMID:31110529|PMID:31408100|PMID:31430211|PMID:32161207 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:0110644 long QT syndrome 1 ISO RGD:10268 D RGD:8554872 20260602 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:21685391|PMID:21878566|PMID:21910241|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|PMID:32161207 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 20260602 ClinVar ClinVar Annotator: match by term: LONG QT SYNDROME 8 | ClinVar Annotator: match by term: Long QT syndrome 8 | ClinVar Annotator: match by term: Long qt syndrome 8 PMID:15454078|PMID:15863612|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19074970|PMID:20817017|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22990809|PMID:23174487|PMID:23313911|PMID:23575362|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:23979604|PMID:24728418|PMID:24773605|PMID:25260352|PMID:25500949|PMID:25691416|PMID:25741868|PMID:26227324|PMID:26253506|PMID:26301350|PMID:26637798|PMID:26822303|PMID:27593853|PMID:27868338|PMID:27925203|PMID:28211989|PMID:28371864|PMID:28492532|PMID:28600387|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29754768|PMID:30025578|PMID:30172029|PMID:30345660|PMID:30530868|PMID:30662450|PMID:31110529|PMID:31408100|PMID:31430211|PMID:31729605|PMID:32161207|PMID:32233023|PMID:33488405|PMID:34163037|PMID:34495297|PMID:35885997|PMID:36007726|PMID:37227348|PMID:9536098 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:10534 stomach cancer ISO RGD:10268 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 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 20260602 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:10907 microcephaly ISO RGD:10268 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Microcephaly 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:1115 sarcoma ISO RGD:10268 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma PMID:25741868|PMID:28492532 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:1143 exotropia ISO RGD:10268 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Exotropia PMID:25741868 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 20260519 ClinVar ClinVar Annotator: match by term: Concentric hypertrophic cardiomyopathy | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|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:13508783 D RGD:9068941 20260521 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:1324 lung cancer ISO RGD:10268 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 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 20260519 ClinVar ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:25741868|PMID:28492532|PMID:33818783 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: 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: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:2843 long QT syndrome ISO RGD:10268 D RGD:8554872 20250506 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:15358028|PMID:15454078|PMID:15856146|PMID:15863612|PMID:16199547|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19061337|PMID:19074970|PMID:19225208|PMID:19687230|PMID:19808356|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22584458|PMID:22677788|PMID:22840528|PMID:22857948|PMID:22990809|PMID:23145875|PMID:23174487|PMID:23313911|PMID:23396983|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:24704860|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:27532257|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:30297972|PMID:30345660|PMID:30369311|PMID:30471092|PMID:30504930|PMID:30513141|PMID:30530868|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31110529|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:2843 long QT syndrome ISO RGD:10268 D RGD:8554872 20250708 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:19687230|PMID:20031608|PMID:20817017|PMID:21270786|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:27593853|PMID:27662471|PMID:27707468|PMID:27711072|PMID:27868338|PMID:27871843|PMID:27920829|PMID:27925203|PMID:27930701|PMID:27981572|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:30369311|PMID:30471092|PMID:30504930|PMID:30513141|PMID:30530868|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31110529|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:2843 long QT syndrome ISO RGD:10268 D RGD:8554872 20250722 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:19687230|PMID:20031608|PMID:20817017|PMID:21270786|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|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:24183960|PMID:24321233|PMID:24439875|PMID:24728418|PMID:24773605|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25500949|PMID:25633834|PMID:25637381|PMID:25640679|PMID:25691416|PMID:25741868|PMID:26159999|PMID:26220970|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26498160|PMID:26551885|PMID:26637798|PMID:26743238|PMID:26822303|PMID:27231019|PMID:27593853|PMID:27711072|PMID:27868338|PMID:27920829|PMID:27925203|PMID:27930701|PMID:27981572|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28492532|PMID:28518168|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29247119|PMID:29396561|PMID:29568937|PMID:29754768|PMID:29915097|PMID:30025578|PMID:30172029|PMID:30345660|PMID:30369311|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:32461654|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:2843 long QT syndrome ISO RGD:10268 D RGD:8554872 20260519 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:15454078|PMID:15863612|PMID:16199547|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19061337|PMID:19074970|PMID:19687230|PMID:20031608|PMID:20817017|PMID:21270786|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22677788|PMID:22990809|PMID:23145875|PMID:23174487|PMID:23313911|PMID:23575362|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:23979604|PMID:24321233|PMID:24728418|PMID:24773605|PMID:25260352|PMID:25341504|PMID:25500949|PMID:25633834|PMID:25640679|PMID:25691416|PMID:25741868|PMID:26220970|PMID:26227324|PMID:26253506|PMID:26301350|PMID:26551885|PMID:26637798|PMID:26822303|PMID:27593853|PMID:27711072|PMID:27868338|PMID:27925203|PMID:27930701|PMID:27981572|PMID:28211989|PMID:28371864|PMID:28492532|PMID:28600387|PMID:28878402|PMID:29016939|PMID:29247119|PMID:29568937|PMID:29754768|PMID:30025578|PMID:30067485|PMID:30172029|PMID:30345660|PMID:30369311|PMID:30662450|PMID:30847666|PMID:31110529|PMID:31408100|PMID:31430211|PMID:31539150|PMID:31737537|PMID:32161207|PMID:32233023|PMID:33191761|PMID:33203140|PMID:33488405|PMID:34079577|PMID:34163037|PMID:34495297|PMID:34999275|PMID:35205252|PMID:35885997|PMID:36007726|PMID:36436328|PMID:37227348|PMID:38849547|PMID:40526200|PMID:9536098 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:2843 long QT syndrome ISO RGD:10268 D RGD:8554872 20260602 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:15454078|PMID:15863612|PMID:16199547|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19061337|PMID:19074970|PMID:19687230|PMID:20031608|PMID:20817017|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22677788|PMID:22990809|PMID:23145875|PMID:23174487|PMID:23313911|PMID:23575362|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:23979604|PMID:24321233|PMID:24728418|PMID:24773605|PMID:25260352|PMID:25341504|PMID:25500949|PMID:25633834|PMID:25640679|PMID:25691416|PMID:25741868|PMID:26220970|PMID:26227324|PMID:26253506|PMID:26301350|PMID:26551885|PMID:26637798|PMID:26822303|PMID:27593853|PMID:27711072|PMID:27868338|PMID:27925203|PMID:27930701|PMID:28211989|PMID:28371864|PMID:28492532|PMID:28600387|PMID:28878402|PMID:29016939|PMID:29247119|PMID:29568937|PMID:29754768|PMID:30025578|PMID:30067485|PMID:30172029|PMID:30345660|PMID:30369311|PMID:30662450|PMID:30847666|PMID:31110529|PMID:31408100|PMID:31430211|PMID:31539150|PMID:31737537|PMID:32161207|PMID:32233023|PMID:33191761|PMID:33203140|PMID:33488405|PMID:34079577|PMID:34163037|PMID:34495297|PMID:34999275|PMID:35205252|PMID:35885997|PMID:36007726|PMID:36436328|PMID:37227348|PMID:38849547|PMID:40526200|PMID:9536098 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:3275 thymoma ISO RGD:10268 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma PMID:25741868|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 20260519 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:25741868|PMID:28492532|PMID:32233023 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:3907 lung squamous cell carcinoma ISO RGD:10268 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:4362 cervical cancer ISO RGD:10268 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:4621 holoprosencephaly ISO RGD:10268 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Alobar holoprosencephaly 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:5041 esophageal cancer ISO RGD:10268 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:5723 optic atrophy ISO RGD:10268 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:25741868 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:10268 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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:6171 uterine carcinosarcoma ISO RGD:10268 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma PMID:25741868|PMID:28492532 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:630 genetic disease ISO RGD:10268 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:8488 polyhydramnios ISO RGD:10268 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Polyhydramnios 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:9000064 Cardiac Arrhythmias ISO RGD:10268 D RGD:8554872 20250722 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868|PMID:26253506|PMID:28492532|PMID:30025578|PMID:30172029|PMID:31110529|PMID:31408100|PMID:31430211|PMID:32161207 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:9000096 Lung Agenesis ISO RGD:10268 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Pulmonary hypoplasia 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:9000123 Deglutition Disorders ISO RGD:10268 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Dysphagia PMID:25741868 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:9001581 Constipation ISO RGD:10268 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Constipation PMID:25741868 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:9002720 Splenomegaly ISO RGD:10268 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Splenomegaly 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 20260602 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:28492532 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:9003132 Sialorrhea ISO RGD:10268 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Drooling PMID:25741868 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:9003137 Photophobia ISO RGD:10268 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Photophobia PMID:25741868 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:9003703 Coxa Valga ISO RGD:10268 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Coxa valga PMID:25741868 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:9004416 Paroxysmal Ventricular Fibrillation ISO RGD:10268 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Paroxysmal familial ventricular fibrillation 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:9004429 Neurodevelopmental Disorders ISO RGD:10268 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality PMID:25741868 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:9004730 Romano-Ward Syndrome ISO RGD:10268 D RGD:8554872 20260602 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:21685391|PMID:21878566|PMID:21910241|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|PMID:32161207 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:9004934 BILATERAL CLEFT LIP ISO RGD:10268 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Bilateral cleft lip 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:9004998 Kyphoscoliosis ISO RGD:10268 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Kyphoscoliosis PMID:25741868 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 20260519 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:25741868|PMID:28492532|PMID:29396561 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:9005539 Familial Prostate Cancer ISO RGD:10268 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial prostate cancer 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:9005603 Muscle Hypotonia ISO RGD:10268 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia PMID:25741868 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:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:10268 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:9007033 Ventricular Premature Complexes ISO RGD:10268 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Premature ventricular contraction PMID:25741868 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:9007428 Muscle Spasticity ISO RGD:10268 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Spasticity PMID:25741868 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:9008086 Developmental Disabilities ISO RGD:10268 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:9008952 Breast Cancer, Familial ISO RGD:10268 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:9119 acute myeloid leukemia ISO RGD:10268 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 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:930 orbital disease ISO RGD:10268 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Proptosis 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:9955 hypoplastic left heart syndrome ISO RGD:10268 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hypoplastic left heart syndrome 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 8700144 Ccdc198 coiled-coil domain containing 198 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1350908 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8700144 Ccdc198 coiled-coil domain containing 198 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1350908 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8700157 Brdt bromodomain testis associated gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1315431 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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 20260602 ClinVar ClinVar Annotator: match by term: BRDT-related condition | ClinVar Annotator: match by term: Spermatogenic failure 21 | ClinVar Annotator: match by term: spermatogenic failure 21 PMID:25741868 8700157 Brdt bromodomain testis associated gene DOID:1324 lung cancer ISO RGD:1315431 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 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:3907 lung squamous cell carcinoma ISO RGD:1315431 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma 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 8700157 Brdt bromodomain testis associated gene DOID:6171 uterine carcinosarcoma ISO RGD:1315431 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8700157 Brdt bromodomain testis associated gene DOID:9008952 Breast Cancer, Familial ISO RGD:1315431 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 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:1115 sarcoma ISO RGD:736424 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 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 20260602 ClinVar ClinVar Annotator: match by term: OPN1SW-related condition | ClinVar Annotator: match by term: TRITANOPIA PMID:1386496|PMID:1531728|PMID:25741868|PMID:28492532|PMID:31816670 8700190 Opn1sw opsin 1, short wave sensitive gene DOID:7998 hyperthyroidism ISO RGD:736424 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hyperthyroidism PMID:28492532 8700190 Opn1sw opsin 1, short wave sensitive gene DOID:9000808 Hypercholesterolemia ISO RGD:736424 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia PMID:28492532 8700199 Clta clathrin light chain A gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:733774 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 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:11054 urinary bladder cancer ISO RGD:733774 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8700199 Clta clathrin light chain A gene DOID:4362 cervical cancer ISO RGD:733774 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8700199 Clta clathrin light chain A gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:733774 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8700199 Clta clathrin light chain A gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:733774 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8700207 Dync2i2 dynein 2 intermediate chain 2 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1342520 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma PMID:28492532 8700207 Dync2i2 dynein 2 intermediate chain 2 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1342520 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: asphyxiating thoracic dystrophy PMID:25741868|PMID:28492532|PMID:29068549|PMID:29241935|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:0110087 asphyxiating thoracic dystrophy 3 ISO RGD:1342520 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 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 20260519 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:24183449|PMID:24183451|PMID:25741868|PMID:28379358|PMID:28492532|PMID:29068549|PMID:29241935|PMID:31130284|PMID:32576942|PMID:36268591|PMID:36653407|PMID:9536098 8700207 Dync2i2 dynein 2 intermediate chain 2 gene DOID:10534 stomach cancer ISO RGD:1342520 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:28492532 8700207 Dync2i2 dynein 2 intermediate chain 2 gene DOID:1115 sarcoma ISO RGD:1342520 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma PMID:28492532 8700207 Dync2i2 dynein 2 intermediate chain 2 gene DOID:1324 lung cancer ISO RGD:1342520 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer PMID:28492532 8700207 Dync2i2 dynein 2 intermediate chain 2 gene DOID:1909 melanoma ISO RGD:1342520 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma PMID:17576681|PMID:24183451|PMID:25741868|PMID:28492532|PMID:9536098 8700207 Dync2i2 dynein 2 intermediate chain 2 gene DOID:234 colon adenocarcinoma ISO RGD:1342520 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma PMID:28492532 8700207 Dync2i2 dynein 2 intermediate chain 2 gene DOID:4074 pancreatic adenocarcinoma ISO RGD:1342520 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma 8700207 Dync2i2 dynein 2 intermediate chain 2 gene DOID:4362 cervical cancer ISO RGD:1342520 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer PMID:28492532 8700207 Dync2i2 dynein 2 intermediate chain 2 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1342520 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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:684 hepatocellular carcinoma ISO RGD:1342520 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:17576681|PMID:24183451|PMID:25741868|PMID:28492532|PMID:9536098 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 8700207 Dync2i2 dynein 2 intermediate chain 2 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1342520 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8700225 Col22a1 collagen type XXII alpha 1 chain gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1319222 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8700225 Col22a1 collagen type XXII alpha 1 chain gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1319222 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8700225 Col22a1 collagen type XXII alpha 1 chain gene DOID:0060058 lymphoma ISO RGD:1319222 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lymphoma 8700225 Col22a1 collagen type XXII alpha 1 chain gene DOID:10534 stomach cancer ISO RGD:1319222 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 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:11054 urinary bladder cancer ISO RGD:1319222 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8700225 Col22a1 collagen type XXII alpha 1 chain gene DOID:1324 lung cancer ISO RGD:1319222 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8700225 Col22a1 collagen type XXII alpha 1 chain gene DOID:1909 melanoma ISO RGD:1319222 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8700225 Col22a1 collagen type XXII alpha 1 chain gene DOID:3070 high grade glioma ISO RGD:1319222 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Glioma susceptibility 1 8700225 Col22a1 collagen type XXII alpha 1 chain gene DOID:3275 thymoma ISO RGD:1319222 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8700225 Col22a1 collagen type XXII alpha 1 chain gene DOID:3907 lung squamous cell carcinoma ISO RGD:1319222 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma 8700225 Col22a1 collagen type XXII alpha 1 chain gene DOID:4362 cervical cancer ISO RGD:1319222 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8700225 Col22a1 collagen type XXII alpha 1 chain gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1319222 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 8700225 Col22a1 collagen type XXII alpha 1 chain gene DOID:4947 cholangiocarcinoma ISO RGD:1319222 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 8700225 Col22a1 collagen type XXII alpha 1 chain gene DOID:5041 esophageal cancer ISO RGD:1319222 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 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 8700225 Col22a1 collagen type XXII alpha 1 chain gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1319222 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 8700225 Col22a1 collagen type XXII alpha 1 chain gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1319222 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8700225 Col22a1 collagen type XXII alpha 1 chain gene DOID:6171 uterine carcinosarcoma ISO RGD:1319222 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8700225 Col22a1 collagen type XXII alpha 1 chain gene DOID:684 hepatocellular carcinoma ISO RGD:1319222 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8700225 Col22a1 collagen type XXII alpha 1 chain gene DOID:9004083 Familial Pancreatic Carcinoma ISO RGD:1319222 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial pancreatic carcinoma 8700225 Col22a1 collagen type XXII alpha 1 chain gene DOID:9008952 Breast Cancer, Familial ISO RGD:1319222 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8700292 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:735373 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:28492532 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 20260602 ClinVar ClinVar Annotator: match by term: BMPR2-related condition | ClinVar Annotator: match by term: PULMONARY VENOOCCLUSIVE DISEASE 1 | ClinVar Annotator: match by term: Pulmonary venoocclusive disease 1 | ClinVar Annotator: match by term: Pulmonary venoocclusive disease 1, autosomal dominant PMID:10903931|PMID:11115378|PMID:11502704|PMID:12446270|PMID:14985116|PMID:15059534|PMID:15146475|PMID:15591269|PMID:16429395|PMID:16717148|PMID:18356561|PMID:18503968|PMID:18626305|PMID:19555857|PMID:20002458|PMID:20534176|PMID:21070126|PMID:21737554|PMID:21801371|PMID:23675998|PMID:24033266|PMID:24292273|PMID:24583436|PMID:24591673|PMID:24936649|PMID:25429696|PMID:25612240|PMID:25688877|PMID:25741868|PMID:26387786|PMID:27002414|PMID:28388887|PMID:28492532|PMID:29718794|PMID:30084161|PMID:30578397|PMID:31727138|PMID:32581362|PMID:33380512|PMID:34426522|PMID:34589526|PMID:34697415 8700292 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:1115 sarcoma ISO RGD:735373 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 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 20260602 ClinVar ClinVar Annotator: match by term: Idiopathic Pulmonary Hypertension | 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 PMID:10903931|PMID:10973254|PMID:11015450|PMID:11115378|PMID:11502704|PMID:12045205|PMID:12358323|PMID:12821254|PMID:14985116|PMID:15059534|PMID:15146475|PMID:15591269|PMID:15687131|PMID:15775752|PMID:15965979|PMID:16199547|PMID:16429395|PMID:16429403|PMID:16717148|PMID:16728714|PMID:17576681|PMID:18159113|PMID:18321866|PMID:18356561|PMID:18503968|PMID:19324947|PMID:19555857|PMID:20002458|PMID:20095988|PMID:20096498|PMID:20534176|PMID:21737554|PMID:21801371|PMID:21920918|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:26820968|PMID:27002414|PMID:27453251|PMID:27613157|PMID:27630060|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:30679663|PMID:30957726|PMID:31727138|PMID:31797984|PMID:32581362|PMID:32634488|PMID:32966279|PMID:33066286|PMID:33380512|PMID:34400635|PMID:34589526|PMID:34697415|PMID:34966542|PMID:35346192|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 20260616 ClinVar ClinVar Annotator: match by term: Seizure PMID:18321866|PMID:25741868|PMID:28492532 8700292 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:234 colon adenocarcinoma ISO RGD:735373 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 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:3907 lung squamous cell carcinoma ISO RGD:735373 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma 8700292 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:4362 cervical cancer ISO RGD:735373 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 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 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:5683 hereditary breast ovarian cancer syndrome ISO RGD:735373 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome 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 20260602 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:28492532 8700292 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:735373 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8700292 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:630 genetic disease ISO RGD:735373 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28391780|PMID:28492532 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:684 hepatocellular carcinoma ISO RGD:735373 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 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 20260616 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with HIV infection | ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease | ClinVar Annotator: match by term: pulmonary arterial hypertension PMID:10903931|PMID:11115378|PMID:11502704|PMID:12045205|PMID:12821254|PMID:14985116|PMID:15059534|PMID:15146475|PMID:15358693|PMID:15591269|PMID:16199547|PMID:16429395|PMID:16717148|PMID:18321866|PMID:18356561|PMID:18503968|PMID:19555857|PMID:20002458|PMID:20534176|PMID:21737554|PMID:21801371|PMID:23579436|PMID:23675998|PMID:24583436|PMID:24591673|PMID:24936649|PMID:25612240|PMID:25688877|PMID:25741868|PMID:26387786|PMID:26645265|PMID:27002414|PMID:28388887|PMID:28480048|PMID:28492532|PMID:29650961|PMID:29718794|PMID:30029678|PMID:30084161|PMID:30578397|PMID:31727138|PMID:32581362|PMID:33380512|PMID:34589526|PMID:36675162 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:9002453 Cafe-au-Lait Spots ISO RGD:735373 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Cafe-au-lait spot PMID:18321866|PMID:25741868|PMID:28492532 8700292 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:9002775 Cognitive Dysfunction ISO RGD:735373 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Cognitive impairment PMID:18321866|PMID:25741868|PMID:28492532 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: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 20260519 ClinVar ClinVar Annotator: match by term: Tooth agenesis, selective, 1 PMID:25741868 8700292 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:9005616 Micrognathism ISO RGD:735373 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Micrognathia PMID:18321866|PMID:25741868|PMID:28492532 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:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:735373 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 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:9008952 Breast Cancer, Familial ISO RGD:735373 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 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 20260616 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 | ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 PMID:10903931|PMID:10973254|PMID:11015450|PMID:11115378|PMID:11502704|PMID:11536076|PMID:12045205|PMID:12139571|PMID:12417513|PMID:12821254|PMID:14516151|PMID:14583445|PMID:14985116|PMID:15055271|PMID:15059534|PMID:15146475|PMID:15170098|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:19206171|PMID:19211612|PMID:19223935|PMID:19555857|PMID:19844076|PMID:20002458|PMID:20096498|PMID:20496075|PMID:20534176|PMID:21737554|PMID:21801371|PMID:22632830|PMID:23139147|PMID:23298310|PMID:23579436|PMID:23590310|PMID:23592887|PMID:23675998|PMID:24033266|PMID:24583436|PMID:24591673|PMID:24853021|PMID:24936649|PMID:25429696|PMID:25612240|PMID:25688877|PMID:25741868|PMID:26387786|PMID:26699722|PMID:27002414|PMID:27453251|PMID:28388887|PMID:28391780|PMID:28492532|PMID:28507310|PMID:29631995|PMID:29650961|PMID:29718794|PMID:30084161|PMID:30578397|PMID:30679663|PMID:31727138|PMID:32581362|PMID:33066286|PMID:33380512|PMID:34400635|PMID:34589526|PMID:34697415|PMID:35504921|PMID:9536098|PMID:9886286 8700292 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:9119 acute myeloid leukemia ISO RGD:735373 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 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: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:4621 holoprosencephaly ISO RGD:1322645 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FOXH1-related condition | ClinVar Annotator: match by term: Holoprosencephaly | ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:18538293|PMID:25741868|PMID:28492532 8700322 Foxh1 forkhead box H1 gene DOID:5041 esophageal cancer ISO RGD:1322645 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8700322 Foxh1 forkhead box H1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1322645 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8700322 Foxh1 forkhead box H1 gene DOID:630 genetic disease ISO RGD:1322645 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 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:9007617 Conotruncal Cardiac Defects ISO RGD:1322645 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Conotruncal defect PMID:32003456 8700353 Klhdc8a kelch domain containing 8A gene DOID:10534 stomach cancer ISO RGD:1605377 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8700353 Klhdc8a kelch domain containing 8A gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1605377 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8700353 Klhdc8a kelch domain containing 8A gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1605377 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8700369 Tsga13 testis specific 13 gene DOID:0061216 pheochromocytoma/paraganglioma syndrome 1 ISO RGD:1314383 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Pheochromocytoma/paraganglioma syndrome 1 8700369 Tsga13 testis specific 13 gene DOID:11054 urinary bladder cancer ISO RGD:1314383 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8700387 Dgkz diacylglycerol kinase zeta gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:733860 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8700387 Dgkz diacylglycerol kinase zeta gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:733860 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8700387 Dgkz diacylglycerol kinase zeta gene DOID:0110784 hereditary spastic paraplegia 33 ISO RGD:733860 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Spastic tetraparesis PMID:25741868 8700387 Dgkz diacylglycerol kinase zeta gene DOID:11054 urinary bladder cancer ISO RGD:733860 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8700387 Dgkz diacylglycerol kinase zeta gene DOID:1115 sarcoma ISO RGD:733860 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 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:1324 lung cancer ISO RGD:733860 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8700387 Dgkz diacylglycerol kinase zeta gene DOID:1909 melanoma ISO RGD:733860 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8700387 Dgkz diacylglycerol kinase zeta gene DOID:234 colon adenocarcinoma ISO RGD:733860 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8700387 Dgkz diacylglycerol kinase zeta gene DOID:4074 pancreatic adenocarcinoma ISO RGD:733860 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma 8700387 Dgkz diacylglycerol kinase zeta gene DOID:4362 cervical cancer ISO RGD:733860 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8700387 Dgkz diacylglycerol kinase zeta gene DOID:5041 esophageal cancer ISO RGD:733860 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8700387 Dgkz diacylglycerol kinase zeta gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:733860 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 8700387 Dgkz diacylglycerol kinase zeta gene DOID:5557 testicular germ cell cancer ISO RGD:733860 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Germ cell tumor of testis 8700387 Dgkz diacylglycerol kinase zeta gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:733860 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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:684 hepatocellular carcinoma ISO RGD:733860 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8700387 Dgkz diacylglycerol kinase zeta gene DOID:9001276 Failure to Thrive ISO RGD:733860 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:28492532 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:9002775 Cognitive Dysfunction ISO RGD:733860 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cognitive impairment PMID:28492532 8700387 Dgkz diacylglycerol kinase zeta gene DOID:9003654 Testicular Germ Cell Tumor ISO RGD:733860 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Germ cell tumor of testis 8700387 Dgkz diacylglycerol kinase zeta gene DOID:9005603 Muscle Hypotonia ISO RGD:733860 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:28492532 8700387 Dgkz diacylglycerol kinase zeta gene DOID:9006534 Nervous System Malformations ISO RGD:733860 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:28492532 8700387 Dgkz diacylglycerol kinase zeta gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:733860 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8700387 Dgkz diacylglycerol kinase zeta gene DOID:9007661 Dwarfism ISO RGD:733860 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Short stature PMID:28492532 8700387 Dgkz diacylglycerol kinase zeta gene DOID:9008952 Breast Cancer, Familial ISO RGD:733860 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8700387 Dgkz diacylglycerol kinase zeta gene DOID:9119 acute myeloid leukemia ISO RGD:733860 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8700440 Srbd1 S1 RNA binding domain 1 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1602705 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8700440 Srbd1 S1 RNA binding domain 1 gene DOID:10534 stomach cancer ISO RGD:1602705 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8700440 Srbd1 S1 RNA binding domain 1 gene DOID:11054 urinary bladder cancer ISO RGD:1602705 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8700440 Srbd1 S1 RNA binding domain 1 gene DOID:1115 sarcoma ISO RGD:1602705 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8700440 Srbd1 S1 RNA binding domain 1 gene DOID:1324 lung cancer ISO RGD:1602705 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8700440 Srbd1 S1 RNA binding domain 1 gene DOID:3070 high grade glioma ISO RGD:1602705 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Glioma susceptibility 1 8700440 Srbd1 S1 RNA binding domain 1 gene DOID:3275 thymoma ISO RGD:1602705 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8700440 Srbd1 S1 RNA binding domain 1 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1602705 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma 8700440 Srbd1 S1 RNA binding domain 1 gene DOID:4362 cervical cancer ISO RGD:1602705 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8700440 Srbd1 S1 RNA binding domain 1 gene DOID:4947 cholangiocarcinoma ISO RGD:1602705 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 8700440 Srbd1 S1 RNA binding domain 1 gene DOID:5041 esophageal cancer ISO RGD:1602705 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8700440 Srbd1 S1 RNA binding domain 1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1602705 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8700440 Srbd1 S1 RNA binding domain 1 gene DOID:6171 uterine carcinosarcoma ISO RGD:1602705 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8700440 Srbd1 S1 RNA binding domain 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1602705 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8700440 Srbd1 S1 RNA binding domain 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1602705 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8700475 Zmat3 zinc finger matrin-type 3 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1602466 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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: Prostate cancer PMID:23265383 8700475 Zmat3 zinc finger matrin-type 3 gene DOID:10283 prostate cancer ISO RGD:1602466 D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 8700475 Zmat3 zinc finger matrin-type 3 gene DOID:1115 sarcoma ISO RGD:1602466 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8700475 Zmat3 zinc finger matrin-type 3 gene DOID:1324 lung cancer ISO RGD:1602466 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8700475 Zmat3 zinc finger matrin-type 3 gene DOID:3070 high grade glioma ISO RGD:1602466 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Glioma susceptibility 1 8700475 Zmat3 zinc finger matrin-type 3 gene DOID:4074 pancreatic adenocarcinoma ISO RGD:1602466 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma 8700475 Zmat3 zinc finger matrin-type 3 gene DOID:4947 cholangiocarcinoma ISO RGD:1602466 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 8700475 Zmat3 zinc finger matrin-type 3 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1602466 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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 8700475 Zmat3 zinc finger matrin-type 3 gene DOID:9119 acute myeloid leukemia ISO RGD:1602466 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8700490 Pdap1 PDGFA associated protein 1 gene DOID:10534 stomach cancer ISO RGD:733658 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 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:5746 ovarian serous cystadenocarcinoma ISO RGD:733658 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8700490 Pdap1 PDGFA associated protein 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:733658 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8700500 Zng1a Zn regulated GTPase metalloprotein activator 1A gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1348830 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8700500 Zng1a Zn regulated GTPase metalloprotein activator 1A gene DOID:0080205 congenital anomalies of the kidney and urinary tract ISO RGD:1552833 D RGD:9068941 20220825 MouseDO 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:10534 stomach cancer ISO RGD:1348830 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8700500 Zng1a Zn regulated GTPase metalloprotein activator 1A gene DOID:11054 urinary bladder cancer ISO RGD:1348830 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8700500 Zng1a Zn regulated GTPase metalloprotein activator 1A gene DOID:1324 lung cancer ISO RGD:1348830 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8700500 Zng1a Zn regulated GTPase metalloprotein activator 1A gene DOID:4362 cervical cancer ISO RGD:1348830 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8700500 Zng1a Zn regulated GTPase metalloprotein activator 1A gene DOID:4947 cholangiocarcinoma ISO RGD:1348830 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 8700500 Zng1a Zn regulated GTPase metalloprotein activator 1A gene DOID:5041 esophageal cancer ISO RGD:1348830 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8700500 Zng1a Zn regulated GTPase metalloprotein activator 1A gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1348830 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8700500 Zng1a Zn regulated GTPase metalloprotein activator 1A gene DOID:9008952 Breast Cancer, Familial ISO RGD:1348830 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8700530 Tp53i13 tumor protein p53 inducible protein 13 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1605319 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8700530 Tp53i13 tumor protein p53 inducible protein 13 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1605319 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8700530 Tp53i13 tumor protein p53 inducible protein 13 gene DOID:10534 stomach cancer ISO RGD:1605319 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8700530 Tp53i13 tumor protein p53 inducible protein 13 gene DOID:1115 sarcoma ISO RGD:1605319 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8700530 Tp53i13 tumor protein p53 inducible protein 13 gene DOID:6171 uterine carcinosarcoma ISO RGD:1605319 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8700530 Tp53i13 tumor protein p53 inducible protein 13 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1605319 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8700530 Tp53i13 tumor protein p53 inducible protein 13 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1605319 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8700541 Prickle3 prickle planar cell polarity protein 3 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1350042 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8700541 Prickle3 prickle planar cell polarity protein 3 gene DOID:0060058 lymphoma ISO RGD:1350042 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lymphoma 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:10003 sensorineural hearing loss ISO RGD:1350042 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Progressive sensorineural hearing impairment 8700541 Prickle3 prickle planar cell polarity protein 3 gene DOID:1909 melanoma ISO RGD:1350042 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8700541 Prickle3 prickle planar cell polarity protein 3 gene DOID:5041 esophageal cancer ISO RGD:1350042 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8700541 Prickle3 prickle planar cell polarity protein 3 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1350042 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8700541 Prickle3 prickle planar cell polarity protein 3 gene DOID:705 Leber hereditary optic neuropathy ISO RGD:1350042 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Leber optic atrophy 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:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1350042 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8700541 Prickle3 prickle planar cell polarity protein 3 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1350042 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8700566 Rnf38 ring finger protein 38 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:737292 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8700566 Rnf38 ring finger protein 38 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:737292 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8700566 Rnf38 ring finger protein 38 gene DOID:10534 stomach cancer ISO RGD:737292 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8700566 Rnf38 ring finger protein 38 gene DOID:234 colon adenocarcinoma ISO RGD:737292 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8700566 Rnf38 ring finger protein 38 gene DOID:4362 cervical cancer ISO RGD:737292 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8700566 Rnf38 ring finger protein 38 gene DOID:5041 esophageal cancer ISO RGD:737292 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8700566 Rnf38 ring finger protein 38 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:737292 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8700566 Rnf38 ring finger protein 38 gene DOID:684 hepatocellular carcinoma ISO RGD:737292 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8700566 Rnf38 ring finger protein 38 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:737292 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8700566 Rnf38 ring finger protein 38 gene DOID:9008952 Breast Cancer, Familial ISO RGD:737292 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8700566 Rnf38 ring finger protein 38 gene DOID:9119 acute myeloid leukemia ISO RGD:737292 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8700604 H3f3b H3 histone, family 3B gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:733608 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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 20260519 ClinVar ClinVar Annotator: match by term: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2 | ClinVar Annotator: match by term: Bryant-Li-Bhoj neurodevelopmental syndrome 2 | ClinVar Annotator: match by term: H3-3B-related condition PMID:25741868|PMID:28492532|PMID:31912665|PMID:33268356|PMID:34876591|PMID:38678163 8700604 H3f3b H3 histone, family 3B gene DOID:10534 stomach cancer ISO RGD:733608 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8700604 H3f3b H3 histone, family 3B gene DOID:1059 intellectual disability ISO RGD:733608 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532|PMID:33268356|PMID:34876591 8700604 H3f3b H3 histone, family 3B gene DOID:10604 lactose intolerance ISO RGD:733608 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lactose intolerance PMID:28492532|PMID:33268356|PMID:34876591 8700604 H3f3b H3 histone, family 3B gene DOID:1115 sarcoma ISO RGD:733608 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8700604 H3f3b H3 histone, family 3B gene DOID:12128 pica disease ISO RGD:733608 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Pica PMID:33268356|PMID:34876591 8700604 H3f3b H3 histone, family 3B gene DOID:12849 autistic disorder ISO RGD:733608 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Autism PMID:28492532|PMID:33268356|PMID:34876591 8700604 H3f3b H3 histone, family 3B gene DOID:14566 disease of cellular proliferation ISO RGD:733608 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Neoplasm PMID:31515627|PMID:35101336 8700604 H3f3b H3 histone, family 3B gene DOID:1826 epilepsy ISO RGD:733608 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Seizure PMID:33268356|PMID:34876591 8700604 H3f3b H3 histone, family 3B gene DOID:1909 melanoma ISO RGD:733608 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8700604 H3f3b H3 histone, family 3B gene DOID:2303 stereotypic movement disorder ISO RGD:733608 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Head-banging 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:5746 ovarian serous cystadenocarcinoma ISO RGD:733608 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8700604 H3f3b H3 histone, family 3B gene DOID:6171 uterine carcinosarcoma ISO RGD:733608 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8700604 H3f3b H3 histone, family 3B gene DOID:630 genetic disease ISO RGD:733608 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|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:9000641 Pain ISO RGD:733608 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Pain PMID:28492532|PMID:33268356|PMID:34876591 8700604 H3f3b H3 histone, family 3B gene DOID:9002916 Hyperphagia ISO RGD:733608 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Polyphagia PMID:33268356|PMID:34876591 8700604 H3f3b H3 histone, family 3B gene DOID:9003816 Macrocephaly ISO RGD:733608 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Macrocephaly PMID:28492532|PMID:33268356|PMID:34876591 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:9005603 Muscle Hypotonia ISO RGD:733608 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia PMID:28492532|PMID:33268356|PMID:34876591 8700604 H3f3b H3 histone, family 3B gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:733608 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8700604 H3f3b H3 histone, family 3B gene DOID:9007661 Dwarfism ISO RGD:733608 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868|PMID:28492532|PMID:33268356|PMID:34876591 8700604 H3f3b H3 histone, family 3B gene DOID:9008086 Developmental Disabilities ISO RGD:733608 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532|PMID:33268356|PMID:34876591 8700604 H3f3b H3 histone, family 3B gene DOID:9970 obesity ISO RGD:733608 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Obesity PMID:33268356|PMID:34876591 8700638 Cdh12 cadherin 12 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1343875 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8700638 Cdh12 cadherin 12 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1343875 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8700638 Cdh12 cadherin 12 gene DOID:10534 stomach cancer ISO RGD:1343875 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8700638 Cdh12 cadherin 12 gene DOID:1324 lung cancer ISO RGD:1343875 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8700638 Cdh12 cadherin 12 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1343875 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma 8700638 Cdh12 cadherin 12 gene DOID:4362 cervical cancer ISO RGD:1343875 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8700638 Cdh12 cadherin 12 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1343875 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 8700638 Cdh12 cadherin 12 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1343875 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8700638 Cdh12 cadherin 12 gene DOID:6171 uterine carcinosarcoma ISO RGD:1343875 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8700638 Cdh12 cadherin 12 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1343875 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29662167 8700662 Aldh16a1 aldehyde dehydrogenase 16 family member A1 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1350465 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8700662 Aldh16a1 aldehyde dehydrogenase 16 family member A1 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1350465 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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:10534 stomach cancer ISO RGD:1350465 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8700662 Aldh16a1 aldehyde dehydrogenase 16 family member A1 gene DOID:1115 sarcoma ISO RGD:1350465 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 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:1324 lung cancer ISO RGD:1350465 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8700662 Aldh16a1 aldehyde dehydrogenase 16 family member A1 gene DOID:1909 melanoma ISO RGD:1350465 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 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 8700662 Aldh16a1 aldehyde dehydrogenase 16 family member A1 gene DOID:3275 thymoma ISO RGD:1350465 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8700662 Aldh16a1 aldehyde dehydrogenase 16 family member A1 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1350465 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma 8700662 Aldh16a1 aldehyde dehydrogenase 16 family member A1 gene DOID:4074 pancreatic adenocarcinoma ISO RGD:1350465 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma 8700662 Aldh16a1 aldehyde dehydrogenase 16 family member A1 gene DOID:4362 cervical cancer ISO RGD:1350465 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8700662 Aldh16a1 aldehyde dehydrogenase 16 family member A1 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1350465 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 8700662 Aldh16a1 aldehyde dehydrogenase 16 family member A1 gene DOID:4947 cholangiocarcinoma ISO RGD:1350465 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 8700662 Aldh16a1 aldehyde dehydrogenase 16 family member A1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1350465 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8700662 Aldh16a1 aldehyde dehydrogenase 16 family member A1 gene DOID:6039 uveal melanoma ISO RGD:1350465 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uveal melanoma 8700662 Aldh16a1 aldehyde dehydrogenase 16 family member A1 gene DOID:684 hepatocellular carcinoma ISO RGD:1350465 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8700662 Aldh16a1 aldehyde dehydrogenase 16 family member A1 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1350465 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8700662 Aldh16a1 aldehyde dehydrogenase 16 family member A1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1350465 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8700662 Aldh16a1 aldehyde dehydrogenase 16 family member A1 gene DOID:9119 acute myeloid leukemia ISO RGD:1350465 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8700689 Slc33a1 solute carrier family 33 member 1 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:732825 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8700689 Slc33a1 solute carrier family 33 member 1 gene DOID:0060058 lymphoma ISO RGD:732825 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lymphoma 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 20260602 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 42 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 42, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Spastic paraplegia 42, autosomal dominant PMID:24583203|PMID:25741868|PMID:26467025|PMID:28492532 8700689 Slc33a1 solute carrier family 33 member 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:732825 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:24583203|PMID:25741868|PMID:26467025|PMID:28492532 8700689 Slc33a1 solute carrier family 33 member 1 gene DOID:3070 high grade glioma ISO RGD:732825 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Glioma susceptibility 1 8700689 Slc33a1 solute carrier family 33 member 1 gene DOID:3907 lung squamous cell carcinoma ISO RGD:732825 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma 8700689 Slc33a1 solute carrier family 33 member 1 gene DOID:5041 esophageal cancer ISO RGD:732825 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8700689 Slc33a1 solute carrier family 33 member 1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:732825 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 8700689 Slc33a1 solute carrier family 33 member 1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:732825 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8700689 Slc33a1 solute carrier family 33 member 1 gene DOID:607 paraplegia ISO RGD:732825 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:22243965|PMID:24583203|PMID:25741868|PMID:26467025|PMID:27306358|PMID:28492532|PMID:34983064 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:9001276 Failure to Thrive ISO RGD:732825 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:32581362 8700689 Slc33a1 solute carrier family 33 member 1 gene DOID:9004083 Familial Pancreatic Carcinoma ISO RGD:732825 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial pancreatic carcinoma 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 20260602 ClinVar ClinVar Annotator: match by term: ACETYL-CoA TRANSPORTER DEFICIENCY | ClinVar Annotator: match by term: HUPPKE-BRENDEL SYNDROME | ClinVar Annotator: match by term: SLC33A1-related condition PMID:22243965|PMID:25741868|PMID:26467025|PMID:27306358|PMID:28492532 8700689 Slc33a1 solute carrier family 33 member 1 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:732825 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8700689 Slc33a1 solute carrier family 33 member 1 gene DOID:9008086 Developmental Disabilities ISO RGD:732825 D RGD:9068941 20260521 CTD CTD Direct Evidence: marker/mechanism PMID:22243965 8700689 Slc33a1 solute carrier family 33 member 1 gene DOID:9119 acute myeloid leukemia ISO RGD:732825 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8700689 Slc33a1 solute carrier family 33 member 1 gene DOID:9256 colorectal cancer ISO RGD:732825 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colorectal cancer 8700722 Sike1 suppressor of IKBKE 1 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1602207 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8700722 Sike1 suppressor of IKBKE 1 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1602207 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8700722 Sike1 suppressor of IKBKE 1 gene DOID:11054 urinary bladder cancer ISO RGD:1602207 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8700722 Sike1 suppressor of IKBKE 1 gene DOID:4362 cervical cancer ISO RGD:1602207 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8700722 Sike1 suppressor of IKBKE 1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1602207 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8700722 Sike1 suppressor of IKBKE 1 gene DOID:9004083 Familial Pancreatic Carcinoma ISO RGD:1602207 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial pancreatic carcinoma 8700722 Sike1 suppressor of IKBKE 1 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1602207 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8700722 Sike1 suppressor of IKBKE 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1602207 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8700733 LOC102022645 25-hydroxycholesterol 7-alpha-hydroxylase gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:735270 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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 20260602 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE PMID:15007371|PMID:16199547|PMID:17503452|PMID:17576681|PMID:18252231|PMID:18855023|PMID:19187859|PMID:19363635|PMID:1943942|PMID:19439420|PMID:21214876|PMID:21452256|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:25741868|PMID:26370385|PMID:26467025|PMID:26714052|PMID:27077743|PMID:27217339|PMID:27879216|PMID:27957547|PMID:28039895|PMID:28492532|PMID:28832565|PMID:29126212|PMID:29228183|PMID:29246610|PMID:29980238|PMID:31227335|PMID:31407473|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: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 20260602 ClinVar ClinVar Annotator: match by term: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3 | ClinVar Annotator: match by term: CYP7B1-related condition | ClinVar Annotator: match by term: Congenital bile acid synthesis defect 3 PMID:17503452|PMID:18252231|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:25741868|PMID:26374131|PMID:26467025|PMID:27077743|PMID:27084228|PMID:27217339|PMID:27879216|PMID:27957547|PMID:28039895|PMID:28492532|PMID:28832565|PMID:29126212|PMID:29228183|PMID:29246610|PMID:29980238|PMID:30564185|PMID:30930780|PMID:31334109|PMID:31589614|PMID:31692161|PMID:32202070|PMID:33160247|PMID:33771085|PMID:34234304|PMID:34426522|PMID:34983064|PMID:7987300|PMID:9802883 8700733 LOC102022645 25-hydroxycholesterol 7-alpha-hydroxylase gene DOID:10970 spastic quadriplegic cerebral palsy ISO RGD:735270 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Spastic quadriplegic cerebral palsy PMID:1943942|PMID:19439420|PMID:21541746|PMID:21623769|PMID:22384504|PMID:23812641|PMID:24117163|PMID:24927729|PMID:25741868|PMID:26467025|PMID:27077743|PMID:27217339|PMID:27879216|PMID:27957547|PMID:28492532|PMID:28832565|PMID:29228183 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:1389 polyneuropathy ISO RGD:735270 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Polyneuropathy PMID:1943942|PMID:19439420|PMID:21541746|PMID:21623769|PMID:22384504|PMID:23812641|PMID:24117163|PMID:24927729|PMID:25741868|PMID:26467025|PMID:27077743|PMID:27217339|PMID:27879216|PMID:27957547|PMID:28492532|PMID:28832565|PMID:29228183 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 20260602 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:15007371|PMID:17503452|PMID:18252231|PMID:18855023|PMID:19187859|PMID:19363635|PMID:1943942|PMID:19439420|PMID:21214876|PMID:21452256|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:25741868|PMID:26370385|PMID:26467025|PMID:26714052|PMID:27077743|PMID:27217339|PMID:27879216|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: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:332 amyotrophic lateral sclerosis ISO RGD:735270 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:1943942|PMID:19439420|PMID:21541746|PMID:21623769|PMID:22384504|PMID:23812641|PMID:24117163|PMID:24927729|PMID:25741868|PMID:26467025|PMID:27077743|PMID:27217339|PMID:27879216|PMID:27957547|PMID:28492532|PMID:28832565|PMID:29228183 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:543 dystonia ISO RGD:735270 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:1943942|PMID:19439420|PMID:21541746|PMID:21623769|PMID:22384504|PMID:23812641|PMID:24117163|PMID:24927729|PMID:25741868|PMID:26467025|PMID:27077743|PMID:27217339|PMID:27879216|PMID:27957547|PMID:28492532|PMID:28832565|PMID:29228183 8700733 LOC102022645 25-hydroxycholesterol 7-alpha-hydroxylase gene DOID:607 paraplegia ISO RGD:735270 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:15007371|PMID:16199547|PMID:17503452|PMID:17576681|PMID:18252231|PMID:18855023|PMID:19187859|PMID:19363635|PMID:19439320|PMID:1943942|PMID:19439420|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:25741868|PMID:26370385|PMID:26374131|PMID:26467025|PMID:26714052|PMID:27077743|PMID:27217339|PMID:27260292|PMID:27879216|PMID:27957547|PMID:28039895|PMID:28492532|PMID:28832565|PMID:29126212|PMID:29228183|PMID:29246610|PMID:29482223|PMID:29980238|PMID:30546280|PMID:30564185|PMID:31589614|PMID:31692161|PMID:32153140|PMID:32202070|PMID:33160247|PMID:34234304|PMID:34426522|PMID:34782662|PMID:34983064|PMID:35464835|PMID:35578252|PMID:37712079|PMID:38651515|PMID:7987300|PMID:9536098|PMID:9802883 8700733 LOC102022645 25-hydroxycholesterol 7-alpha-hydroxylase gene DOID:630 genetic disease ISO RGD:735270 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases PMID:19363635|PMID:19439420|PMID:21541746|PMID:21567895|PMID:24117163|PMID:24641183|PMID:25741868|PMID:28039895|PMID:28492532|PMID:29980238|PMID:9802883 8700733 LOC102022645 25-hydroxycholesterol 7-alpha-hydroxylase gene DOID:684 hepatocellular carcinoma ISO RGD:735270 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8700733 LOC102022645 25-hydroxycholesterol 7-alpha-hydroxylase gene DOID:767 muscular atrophy ISO RGD:735270 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Muscular atrophy PMID:1943942|PMID:19439420|PMID:21541746|PMID:21623769|PMID:22384504|PMID:23812641|PMID:24117163|PMID:24927729|PMID:25741868|PMID:26467025|PMID:27077743|PMID:27217339|PMID:27879216|PMID:27957547|PMID:28492532|PMID:28832565|PMID:29228183 8700733 LOC102022645 25-hydroxycholesterol 7-alpha-hydroxylase gene DOID:9000495 Tremor ISO RGD:735270 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Tremor PMID:1943942|PMID:19439420|PMID:21541746|PMID:21623769|PMID:22384504|PMID:23812641|PMID:24117163|PMID:24927729|PMID:25741868|PMID:26467025|PMID:27077743|PMID:27217339|PMID:27879216|PMID:27957547|PMID:28492532|PMID:28832565|PMID:29228183 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:9004866 Ataxia ISO RGD:735270 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ataxia PMID:1943942|PMID:19439420|PMID:21541746|PMID:21623769|PMID:22384504|PMID:23812641|PMID:24117163|PMID:24927729|PMID:25741868|PMID:26467025|PMID:27077743|PMID:27217339|PMID:27879216|PMID:27957547|PMID:28492532|PMID:28832565|PMID:29228183 8700733 LOC102022645 25-hydroxycholesterol 7-alpha-hydroxylase gene DOID:9006230 Neurologic Gait Disorders ISO RGD:735270 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Spastic gait PMID:1943942|PMID:19439420|PMID:21541746|PMID:21623769|PMID:22384504|PMID:23812641|PMID:24117163|PMID:24927729|PMID:25741868|PMID:26467025|PMID:27077743|PMID:27217339|PMID:27879216|PMID:27957547|PMID:28492532|PMID:28832565|PMID:29228183 8700733 LOC102022645 25-hydroxycholesterol 7-alpha-hydroxylase gene DOID:9006880 Urinary Incontinence ISO RGD:735270 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Urinary incontinence PMID:1943942|PMID:19439420|PMID:21541746|PMID:21623769|PMID:22384504|PMID:23812641|PMID:24117163|PMID:24927729|PMID:25741868|PMID:26467025|PMID:27077743|PMID:27217339|PMID:27879216|PMID:27957547|PMID:28492532|PMID:28832565|PMID:29228183 8700733 LOC102022645 25-hydroxycholesterol 7-alpha-hydroxylase gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:735270 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 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:0050939 uterine corpus endometrial carcinoma ISO RGD:737523 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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: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:1115 sarcoma ISO RGD:737523 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:234 colon adenocarcinoma ISO RGD:737523 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 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:3275 thymoma ISO RGD:737523 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 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:5746 ovarian serous cystadenocarcinoma ISO RGD:737523 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:737523 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 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 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:9008952 Breast Cancer, Familial ISO RGD:737523 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 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 20260602 ClinVar ClinVar Annotator: match by term: DIAMOND-BLACKFAN ANEMIA 10 | ClinVar Annotator: match by term: Diamond-Blackfan anemia 10 | ClinVar Annotator: match by term: RPS26-related condition PMID:16199547|PMID:17576681|PMID:19816270|PMID:20116044|PMID:21414820|PMID:22381658|PMID:23718193|PMID:24675553|PMID:24942156|PMID:25741868|PMID:25946618|PMID:26136524|PMID:28102861|PMID:28104920|PMID:28492532|PMID:29044489|PMID:29114930|PMID:30376034|PMID:37376976|PMID:9536098 8700836 Rps26 ribosomal protein S26 gene DOID:11054 urinary bladder cancer ISO RGD:1344988 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8700836 Rps26 ribosomal protein S26 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1344988 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:16199547|PMID:20116044|PMID:21414820|PMID:23718193|PMID:24942156|PMID:25741868|PMID:26136524|PMID:26604301|PMID:27329125|PMID:28102861|PMID:28492532|PMID:29114930 8700836 Rps26 ribosomal protein S26 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1344988 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:20116044|PMID:24942156|PMID:25741868|PMID:26136524|PMID:28492532 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:5746 ovarian serous cystadenocarcinoma ISO RGD:1344988 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma PMID:20116044|PMID:24942156|PMID:25741868|PMID:26136524|PMID:28492532 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:0050387 nonpapillary renal cell carcinoma ISO RGD:733356 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 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 | ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 16 | ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 16 PMID:25741868|PMID:33168985|PMID:33257696 8700844 Minpp1 multiple inositol-polyphosphate phosphatase 1 gene DOID:1115 sarcoma ISO RGD:733356 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8700844 Minpp1 multiple inositol-polyphosphate phosphatase 1 gene DOID:1909 melanoma ISO RGD:733356 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 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:3962 follicular thyroid carcinoma ISO RGD:733356 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: THYROID CARCINOMA, FOLLICULAR 8700844 Minpp1 multiple inositol-polyphosphate phosphatase 1 gene DOID:6204 follicular adenoma ISO RGD:733356 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: THYROID ADENOMA, FOLLICULAR PMID:25741868 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 20260609 ClinVar ClinVar Annotator: match by term: MINPP1-related condition | ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 2 PMID:25741868 8700844 Minpp1 multiple inositol-polyphosphate phosphatase 1 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:733356 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 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 8700844 Minpp1 multiple inositol-polyphosphate phosphatase 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:733356 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8700856 Aars1 alanyl-tRNA synthetase 1 gene DOID:0050117 disease by infectious agent ISO RGD:1312500 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Recurrent infections PMID:25741868|PMID:28492532 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 20260602 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:24627108|PMID:25640679|PMID:25741868|PMID:25817015|PMID:25904691|PMID:26032230|PMID:26257172|PMID:26752306|PMID:27164712|PMID:27993330|PMID:28492532|PMID:28493438|PMID:28902413|PMID:29653220|PMID:30124830|PMID:30214071|PMID:31069529|PMID:31130284|PMID:31791873|PMID:31827005|PMID:32314272|PMID:32376792|PMID:32571458|PMID:33144514|PMID:33294374|PMID:33369814|PMID:33753480|PMID:34446925|PMID:34645488|PMID:34650302|PMID:34813128|PMID:7842019|PMID:9536098 8700856 Aars1 alanyl-tRNA synthetase 1 gene DOID:0050700 cardiomyopathy ISO RGD:1312500 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868 8700856 Aars1 alanyl-tRNA synthetase 1 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1312500 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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 20260519 ClinVar ClinVar Annotator: match by term: TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE | ClinVar Annotator: match by term: Trichothiodystrophy 8, nonphotosensitive PMID:25741868|PMID:28492532|PMID:31069529|PMID:33909043 8700856 Aars1 alanyl-tRNA synthetase 1 gene DOID:0080204 renal hypoplasia ISO RGD:1312500 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Renal hypoplasia PMID:25741868|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 20260519 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 29 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 29 | 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:31069529|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 20260602 ClinVar ClinVar Annotator: match by term: Hereditary diffuse leukoencephalopathy with spheroids PMID:31775912 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 20260602 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2N | ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2N | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2N PMID:20045102|PMID:21208200|PMID:21494555|PMID:22009580|PMID:22206013|PMID:25741868|PMID:25783436|PMID:25817015|PMID:26032230|PMID:26257172|PMID:26752306|PMID:27993330|PMID:28492532|PMID:28493438|PMID:28902413|PMID:29653220|PMID:30124830|PMID:31069529|PMID:31827005|PMID:32314272|PMID:32376792|PMID:33294374|PMID:34446925|PMID:7842019 8700856 Aars1 alanyl-tRNA synthetase 1 gene DOID:10534 stomach cancer ISO RGD:1312500 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 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 20260602 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:17576681|PMID:20045102|PMID:21208200|PMID:21494555|PMID:22009580|PMID:25741868|PMID:25817015|PMID:25904691|PMID:26032230|PMID:26257172|PMID:26752306|PMID:27549087|PMID:28492532|PMID:29653220|PMID:32314272|PMID:32376792|PMID:33294374|PMID:33753480|PMID:34446925|PMID:34813128|PMID:9536098 8700856 Aars1 alanyl-tRNA synthetase 1 gene DOID:11054 urinary bladder cancer ISO RGD:1312500 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder PMID:17576681|PMID:25741868|PMID:28492532|PMID:32376792|PMID:9536098 8700856 Aars1 alanyl-tRNA synthetase 1 gene DOID:1115 sarcoma ISO RGD:1312500 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma PMID:25741868|PMID:28492532 8700856 Aars1 alanyl-tRNA synthetase 1 gene DOID:11252 microcytic anemia ISO RGD:1312500 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Microcytic anemia PMID:25741868 8700856 Aars1 alanyl-tRNA synthetase 1 gene DOID:11759 hypochromic anemia ISO RGD:1312500 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hypochromic anemia PMID:25741868 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:12849 autistic disorder ISO RGD:1312500 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Autism 8700856 Aars1 alanyl-tRNA synthetase 1 gene DOID:1324 lung cancer ISO RGD:1312500 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8700856 Aars1 alanyl-tRNA synthetase 1 gene DOID:1909 melanoma ISO RGD:1312500 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8700856 Aars1 alanyl-tRNA synthetase 1 gene DOID:2303 stereotypic movement disorder ISO RGD:1312500 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Stereotypic movement disorder PMID:25741868|PMID:28492532 8700856 Aars1 alanyl-tRNA synthetase 1 gene DOID:234 colon adenocarcinoma ISO RGD:1312500 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma PMID:16199547|PMID:25817015|PMID:28492532|PMID:28493438|PMID:34446925|PMID:34650302 8700856 Aars1 alanyl-tRNA synthetase 1 gene DOID:3070 high grade glioma ISO RGD:1312500 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Glioma susceptibility 1 8700856 Aars1 alanyl-tRNA synthetase 1 gene DOID:3275 thymoma ISO RGD:1312500 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8700856 Aars1 alanyl-tRNA synthetase 1 gene DOID:4362 cervical cancer ISO RGD:1312500 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8700856 Aars1 alanyl-tRNA synthetase 1 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1312500 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 8700856 Aars1 alanyl-tRNA synthetase 1 gene DOID:480 movement disease ISO RGD:1312500 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Movement disorder PMID:25741868|PMID:28492532 8700856 Aars1 alanyl-tRNA synthetase 1 gene DOID:5041 esophageal cancer ISO RGD:1312500 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus PMID:25741868|PMID:28492532 8700856 Aars1 alanyl-tRNA synthetase 1 gene DOID:540 strabismus ISO RGD:1312500 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Strabismus PMID:25741868|PMID:28492532 8700856 Aars1 alanyl-tRNA synthetase 1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1312500 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma PMID:25741868|PMID:28492532 8700856 Aars1 alanyl-tRNA synthetase 1 gene DOID:583 hemolytic anemia ISO RGD:1312500 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hemolytic anemia PMID:25741868 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 20260519 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21494555|PMID:22009580|PMID:22206013|PMID:25741868|PMID:25817015|PMID:26257172|PMID:26752306|PMID:27993330|PMID:28492532|PMID:28902413|PMID:29653220|PMID:30124830|PMID:31069529|PMID:31827005|PMID:32376792|PMID:33294374|PMID:34813128 8700856 Aars1 alanyl-tRNA synthetase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1312500 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8700856 Aars1 alanyl-tRNA synthetase 1 gene DOID:7319 axonal neuropathy ISO RGD:1312500 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Peripheral axonal neuropathy PMID:27993330|PMID:28492532|PMID:29653220|PMID:30124830|PMID:31827005 8700856 Aars1 alanyl-tRNA synthetase 1 gene DOID:767 muscular atrophy ISO RGD:1312500 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Muscular atrophy PMID:25741868|PMID:28492532 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:9001276 Failure to Thrive ISO RGD:1312500 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:25741868|PMID:28492532 8700856 Aars1 alanyl-tRNA synthetase 1 gene DOID:9001745 Fasciculation ISO RGD:1312500 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Fasciculations PMID:25741868|PMID:28492532 8700856 Aars1 alanyl-tRNA synthetase 1 gene DOID:9002775 Cognitive Dysfunction ISO RGD:1312500 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cognitive impairment PMID:25741868|PMID:28492532 8700856 Aars1 alanyl-tRNA synthetase 1 gene DOID:9003286 Diplopia ISO RGD:1312500 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Diplopia PMID:25741868|PMID:28492532 8700856 Aars1 alanyl-tRNA synthetase 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:1312500 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:25741868|PMID:28492532 8700856 Aars1 alanyl-tRNA synthetase 1 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1312500 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8700856 Aars1 alanyl-tRNA synthetase 1 gene DOID:9007661 Dwarfism ISO RGD:1312500 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868|PMID:28492532 8700856 Aars1 alanyl-tRNA synthetase 1 gene DOID:9007874 Liver Failure ISO RGD:1312500 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Liver failure PMID:25741868 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 20260519 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:31069529 8700856 Aars1 alanyl-tRNA synthetase 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1312500 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:17576681|PMID:28492532|PMID:9536098 8700856 Aars1 alanyl-tRNA synthetase 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1312500 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8700881 Nif3l1 NGG1 interacting factor 3 like 1 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1321170 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8700881 Nif3l1 NGG1 interacting factor 3 like 1 gene DOID:10534 stomach cancer ISO RGD:1321170 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8700881 Nif3l1 NGG1 interacting factor 3 like 1 gene DOID:1909 melanoma ISO RGD:1321170 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8700881 Nif3l1 NGG1 interacting factor 3 like 1 gene DOID:234 colon adenocarcinoma ISO RGD:1321170 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8700881 Nif3l1 NGG1 interacting factor 3 like 1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1321170 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8700881 Nif3l1 NGG1 interacting factor 3 like 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1321170 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 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:0061225 interleukin-1 receptor antagonist deficiency 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: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 20260602 ClinVar ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 2 | ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 | ClinVar Annotator: match by term: NFKBIA-related disorder PMID:12167702|PMID:17576681|PMID:17931563|PMID:22078572|PMID:23708964|PMID:23870671|PMID:24033266|PMID:25601653|PMID:25741868|PMID:28492532|PMID:28629746|PMID:29948576|PMID:31618753|PMID:32581362|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: Prostate cancer 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:11054 urinary bladder cancer ISO RGD:735440 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 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:14566 disease of cellular proliferation ISO RGD:735440 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Neoplasm PMID:27647909|PMID:35101336 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:3070 high grade glioma ISO RGD:735440 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Glioma susceptibility 1 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:5746 ovarian serous cystadenocarcinoma ISO RGD:735440 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma PMID:17576681|PMID:28492532|PMID:9536098 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:630 genetic disease ISO RGD:735440 D RGD:8554872 20260519 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:9001131 stress-related disorder ISO RGD:3171 D RGD:9068941 20250327 RGD associated with binge drinking; mRNA:increased expression:hippocampus PMID:29458194|REF_RGD_ID:598092572 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:9002159 Liver Reperfusion Injury treatment ISO RGD:3171 D RGD:9068941 20250424 RGD associated with alcoholic hepatitis PMID:22019745|REF_RGD_ID:598147059 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: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:9006302 Binge Drinking ISO RGD:3171 D RGD:9068941 20250327 RGD mRNA:increased expression:hippocampus PMID:29458194|REF_RGD_ID:598092572 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: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:1115 sarcoma ISO RGD:1604643 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8700923 Kcnk7 potassium two pore domain channel subfamily K member 7 gene DOID:234 colon adenocarcinoma ISO RGD:1604643 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8700923 Kcnk7 potassium two pore domain channel subfamily K member 7 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1604643 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 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 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 20260602 ClinVar ClinVar Annotator: match by term: ARPC1B-related condition | ClinVar Annotator: match by term: IMMUNODEFICIENCY 71 WITH INFLAMMATORY DISEASE AND CONGENITAL THROMBOCYTOPENIA | ClinVar Annotator: match by term: Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease PMID:17576681|PMID:25741868|PMID:27965109|PMID:28368018|PMID:28492532|PMID:29127144|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:1909 melanoma ISO RGD:736395 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 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: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:5520 head and neck squamous cell carcinoma ISO RGD:736395 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:17576681|PMID:25741868|PMID:28492532|PMID:33679784|PMID:9536098 8701002 Arpc1b actin related protein 2/3 complex subunit 1B gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:736395 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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 20260519 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8701002 Arpc1b actin related protein 2/3 complex subunit 1B gene DOID:6354 chronic lymphocytic leukemia/small lymphocytic lymphoma ISO RGD:736395 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma 8701002 Arpc1b actin related protein 2/3 complex subunit 1B gene DOID:684 hepatocellular carcinoma ISO RGD:736395 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 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 8701002 Arpc1b actin related protein 2/3 complex subunit 1B gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:736395 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8701002 Arpc1b actin related protein 2/3 complex subunit 1B gene DOID:9008952 Breast Cancer, Familial ISO RGD:736395 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8701022 Yme1l1 YME1 like 1 ATPase gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:733459 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8701022 Yme1l1 YME1 like 1 ATPase gene DOID:0060336 3-methylglutaconic aciduria ISO RGD:733459 D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria 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 20260602 ClinVar ClinVar Annotator: match by term: Optic atrophy 11 | ClinVar Annotator: match by term: YME1L1-related condition PMID:25741868|PMID:28492532 8701022 Yme1l1 YME1 like 1 ATPase gene DOID:10534 stomach cancer ISO RGD:733459 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8701022 Yme1l1 YME1 like 1 ATPase gene DOID:11054 urinary bladder cancer ISO RGD:733459 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8701022 Yme1l1 YME1 like 1 ATPase gene DOID:1115 sarcoma ISO RGD:733459 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 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:1909 melanoma ISO RGD:733459 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8701022 Yme1l1 YME1 like 1 ATPase gene DOID:234 colon adenocarcinoma ISO RGD:733459 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8701022 Yme1l1 YME1 like 1 ATPase gene DOID:2843 long QT syndrome ISO RGD:733459 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Long QT syndrome 8701022 Yme1l1 YME1 like 1 ATPase gene DOID:3275 thymoma ISO RGD:733459 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8701022 Yme1l1 YME1 like 1 ATPase gene DOID:4074 pancreatic adenocarcinoma ISO RGD:733459 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma 8701022 Yme1l1 YME1 like 1 ATPase gene DOID:4362 cervical cancer ISO RGD:733459 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8701022 Yme1l1 YME1 like 1 ATPase gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:733459 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 8701022 Yme1l1 YME1 like 1 ATPase gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:733459 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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 8701022 Yme1l1 YME1 like 1 ATPase gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:733459 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8701022 Yme1l1 YME1 like 1 ATPase gene DOID:9008952 Breast Cancer, Familial ISO RGD:733459 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8701041 Ntf3 neurotrophin 3 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:732368 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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 20260519 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 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:5746 ovarian serous cystadenocarcinoma ISO RGD:732368 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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: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:0050387 nonpapillary renal cell carcinoma ISO RGD:1344855 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8701050 Dhrsx dehydrogenase/reductase X-linked gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1344855 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8701050 Dhrsx dehydrogenase/reductase X-linked gene DOID:1324 lung cancer ISO RGD:1344855 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: EGFR-related lung cancer | ClinVar Annotator: match by term: Lung cancer 8701050 Dhrsx dehydrogenase/reductase X-linked gene DOID:1909 melanoma ISO RGD:1344855 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8701050 Dhrsx dehydrogenase/reductase X-linked gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1344855 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8701050 Dhrsx dehydrogenase/reductase X-linked gene DOID:684 hepatocellular carcinoma ISO RGD:1344855 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8701050 Dhrsx dehydrogenase/reductase X-linked gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1344855 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8701050 Dhrsx dehydrogenase/reductase X-linked gene DOID:9008952 Breast Cancer, Familial ISO RGD:1344855 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 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 8701050 Dhrsx dehydrogenase/reductase X-linked gene DOID:9119 acute myeloid leukemia ISO RGD:1344855 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 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:0060930 developmental dysplasia of the hip ISO RGD:1319491 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Developmental dysplasia of the hip PMID:25741868|PMID:28492532 8701061 LOC102011427 chromosome unknown open reading frame, human C19orf12 gene DOID:0080855 Parkinsonism ISO RGD:1319491 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Parkinsonism 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 20260602 ClinVar ClinVar Annotator: match by term: Iron accumulation in brain | ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation PMID:21981780|PMID:22584950|PMID:23166001|PMID:23278385|PMID:23436634|PMID:24209434|PMID:24361204|PMID:25592411|PMID:25741868|PMID:27801611|PMID:28347615|PMID:28492532|PMID:28832565|PMID:31087512|PMID:31970231|PMID:32552793|PMID:32581362|PMID:33607528 8701061 LOC102011427 chromosome unknown open reading frame, human C19orf12 gene DOID:0110736 neurodegeneration with brain iron accumulation 2B ISO RGD:1319491 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 2B PMID:25741868 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 20260616 ClinVar ClinVar Annotator: match by term: C19orf12-related condition | ClinVar Annotator: match by term: MITOCHONDRIAL PROTEIN-ASSOCIATED NEURODEGENERATION | 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:23857908|PMID:24209434|PMID:25592411|PMID:25741868|PMID:26187298|PMID:26539891|PMID:27112773|PMID:27801611|PMID:28347615|PMID:28492532|PMID:28641177|PMID:29389947|PMID:29915382|PMID:30369941|PMID:30392167|PMID:31087512|PMID:31105013|PMID:31970231|PMID:32581362|PMID:33134513|PMID:33607528|PMID:34022688|PMID:34234304|PMID:34272103|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 20260616 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:21981780|PMID:22584950|PMID:23166001|PMID:23269600|PMID:23278385|PMID:23436634|PMID:23857908|PMID:24209434|PMID:24361204|PMID:25592411|PMID:25741868|PMID:26187298|PMID:27112773|PMID:27801611|PMID:28347615|PMID:28492532|PMID:28832565|PMID:29915382|PMID:31087512|PMID:31105013|PMID:31970231|PMID:32552793|PMID:32581362|PMID:33607528|PMID:33688131|PMID:35188090|PMID:9536098 8701061 LOC102011427 chromosome unknown open reading frame, human C19orf12 gene DOID:0110810 hereditary spastic paraplegia 5A ISO RGD:1319491 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE PMID:25741868|PMID:28492532 8701061 LOC102011427 chromosome unknown open reading frame, human C19orf12 gene DOID:1059 intellectual disability ISO RGD:1319491 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder PMID:25741868|PMID:26539891 8701061 LOC102011427 chromosome unknown open reading frame, human C19orf12 gene DOID:10907 microcephaly ISO RGD:1319491 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:23166001|PMID:25741868 8701061 LOC102011427 chromosome unknown open reading frame, human C19orf12 gene DOID:1115 sarcoma ISO RGD:1319491 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8701061 LOC102011427 chromosome unknown open reading frame, human C19orf12 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1319491 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:21981780|PMID:23269600|PMID:24361204|PMID:25741868|PMID:27112773|PMID:28492532|PMID:28832565|PMID:31087512|PMID:31105013|PMID:32552793 8701061 LOC102011427 chromosome unknown open reading frame, human C19orf12 gene DOID:3275 thymoma ISO RGD:1319491 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8701061 LOC102011427 chromosome unknown open reading frame, human C19orf12 gene DOID:5041 esophageal cancer ISO RGD:1319491 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8701061 LOC102011427 chromosome unknown open reading frame, human C19orf12 gene DOID:543 dystonia ISO RGD:1319491 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:23166001|PMID:25741868|PMID:28492532|PMID:33607528 8701061 LOC102011427 chromosome unknown open reading frame, human C19orf12 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1319491 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8701061 LOC102011427 chromosome unknown open reading frame, human C19orf12 gene DOID:630 genetic disease ISO RGD:1319491 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8701061 LOC102011427 chromosome unknown open reading frame, human C19orf12 gene DOID:684 hepatocellular carcinoma ISO RGD:1319491 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8701061 LOC102011427 chromosome unknown open reading frame, human C19orf12 gene DOID:9000495 Tremor ISO RGD:1319491 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: tremors PMID:25741868|PMID:28492532 8701061 LOC102011427 chromosome unknown open reading frame, human C19orf12 gene DOID:9001722 Dysarthria ISO RGD:1319491 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Dysarthria PMID:21981780|PMID:22584950|PMID:23166001|PMID:23278385|PMID:23436634|PMID:24209434|PMID:25592411|PMID:25741868|PMID:27801611|PMID:28347615|PMID:28492532|PMID:31970231|PMID:32581362|PMID:33607528 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:9002775 Cognitive Dysfunction ISO RGD:1319491 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Cognitive decline PMID:25741868|PMID:28492532 8701061 LOC102011427 chromosome unknown open reading frame, human C19orf12 gene DOID:9003507 Premature Birth ISO RGD:1319491 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Premature birth PMID:25741868|PMID:28492532 8701061 LOC102011427 chromosome unknown open reading frame, human C19orf12 gene DOID:9004665 Pectus Carinatum ISO RGD:1319491 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Pectus carinatum PMID:25741868|PMID:28492532 8701061 LOC102011427 chromosome unknown open reading frame, human C19orf12 gene DOID:9004866 Ataxia ISO RGD:1319491 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ataxia PMID:21981780|PMID:22584950|PMID:23166001|PMID:23278385|PMID:23436634|PMID:24209434|PMID:25592411|PMID:25741868|PMID:27801611|PMID:28347615|PMID:28492532|PMID:31970231|PMID:32581362|PMID:33607528 8701061 LOC102011427 chromosome unknown open reading frame, human C19orf12 gene DOID:9005077 Joint Instability ISO RGD:1319491 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Joint hypermobility PMID:25741868|PMID:28492532 8701061 LOC102011427 chromosome unknown open reading frame, human C19orf12 gene DOID:9007428 Muscle Spasticity ISO RGD:1319491 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Spasticity PMID:25741868|PMID:28492532|PMID:33607528 8701061 LOC102011427 chromosome unknown open reading frame, human C19orf12 gene DOID:9007736 Vertigo ISO RGD:1319491 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Vertigo PMID:25741868|PMID:28492532 8701061 LOC102011427 chromosome unknown open reading frame, human C19orf12 gene DOID:9008086 Developmental Disabilities ISO RGD:1319491 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:23166001|PMID:25741868|PMID:26539891 8701061 LOC102011427 chromosome unknown open reading frame, human C19orf12 gene DOID:9834 hyperopia ISO RGD:1319491 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Hypermetropia PMID:25741868|PMID:28492532 8701075 Ccdc92 coiled-coil domain containing 92 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1604596 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8701075 Ccdc92 coiled-coil domain containing 92 gene DOID:1909 melanoma ISO RGD:1604596 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8701075 Ccdc92 coiled-coil domain containing 92 gene DOID:4947 cholangiocarcinoma ISO RGD:1604596 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 8701075 Ccdc92 coiled-coil domain containing 92 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1604596 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1604596 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 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: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 20260602 ClinVar ClinVar Annotator: match by term: POIKILODERMA WITH NEUTROPENIA | ClinVar Annotator: match by term: Poikiloderma with neutropenia | ClinVar Annotator: match by term: USB1-related condition PMID:16199547|PMID:17576681|PMID:20004881|PMID:20618321|PMID:20817924|PMID:21271650|PMID:21872685|PMID:21967010|PMID:23190533|PMID:24033266|PMID:25044170|PMID:25741868|PMID:27612988|PMID:28492532|PMID:29982244|PMID:31522452|PMID:32897901|PMID:9536098 8701098 Usb1 U6 snRNA biogenesis phosphodiesterase 1 gene DOID:10534 stomach cancer ISO RGD:1606230 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8701098 Usb1 U6 snRNA biogenesis phosphodiesterase 1 gene DOID:11054 urinary bladder cancer ISO RGD:1606230 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8701098 Usb1 U6 snRNA biogenesis phosphodiesterase 1 gene DOID:1115 sarcoma ISO RGD:1606230 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma PMID:25741868 8701098 Usb1 U6 snRNA biogenesis phosphodiesterase 1 gene DOID:1324 lung cancer ISO RGD:1606230 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer PMID:25741868 8701098 Usb1 U6 snRNA biogenesis phosphodiesterase 1 gene DOID:234 colon adenocarcinoma ISO RGD:1606230 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8701098 Usb1 U6 snRNA biogenesis phosphodiesterase 1 gene DOID:4362 cervical cancer ISO RGD:1606230 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer PMID:25741868 8701098 Usb1 U6 snRNA biogenesis phosphodiesterase 1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1606230 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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 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 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:5041 esophageal cancer ISO RGD:730963 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 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 8701115 Soat2 sterol O-acyltransferase 2 gene DOID:9008952 Breast Cancer, Familial ISO RGD:730963 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8701115 Soat2 sterol O-acyltransferase 2 gene DOID:9119 acute myeloid leukemia ISO RGD:730963 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8701161 Hnmt histamine N-methyltransferase gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:733644 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 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:7240710 20260701 OMIM 8701161 Hnmt histamine N-methyltransferase gene DOID:0081214 autosomal recessive intellectual developmental disorder 51 ISO RGD:733644 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 51 8701161 Hnmt histamine N-methyltransferase gene DOID:1059 intellectual disability ISO RGD:733644 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8701161 Hnmt histamine N-methyltransferase gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:733644 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Attention deficit hyperactivity disorder 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:12849 autistic disorder ISO RGD:733644 D RGD:9068941 20250508 CTD CTD Direct Evidence: marker/mechanism PMID:33310825 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:1882 atrial heart septal defect ISO RGD:733644 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Atrial septal defect 8701161 Hnmt histamine N-methyltransferase gene DOID:2841 asthma ISO RGD:733644 D RGD:7240710 20260701 OMIM 8701161 Hnmt histamine N-methyltransferase gene DOID:2841 asthma ISO RGD:733644 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: HNMT-related condition 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:3275 thymoma ISO RGD:733644 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 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:4362 cervical cancer ISO RGD:733644 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 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:5520 head and neck squamous cell carcinoma ISO RGD:733644 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 8701161 Hnmt histamine N-methyltransferase gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:733644 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8701161 Hnmt histamine N-methyltransferase gene DOID:77 gastrointestinal system disease ISO RGD:733644 D RGD:9068941 20250508 CTD CTD Direct Evidence: marker/mechanism PMID:33310825 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 8701161 Hnmt histamine N-methyltransferase gene DOID:9002111 Dyssomnias ISO RGD:733644 D RGD:9068941 20250508 CTD CTD Direct Evidence: marker/mechanism PMID:33310825 8701161 Hnmt histamine N-methyltransferase gene DOID:9003816 Macrocephaly ISO RGD:733644 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Macrocephaly 8701161 Hnmt histamine N-methyltransferase gene DOID:9005466 Language Development Disorders ISO RGD:733644 D RGD:9068941 20250508 CTD CTD Direct Evidence: marker/mechanism PMID:33310825 8701161 Hnmt histamine N-methyltransferase gene DOID:9005603 Muscle Hypotonia ISO RGD:733644 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hypotonia 8701161 Hnmt histamine N-methyltransferase gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:733644 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8701161 Hnmt histamine N-methyltransferase gene DOID:9008086 Developmental Disabilities ISO RGD:733644 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 8701161 Hnmt histamine N-methyltransferase gene DOID:9256 colorectal cancer ISO RGD:733644 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colorectal cancer 8701178 Lrrn4cl LRRN4 C-terminal like gene DOID:10534 stomach cancer ISO RGD:1603349 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8701178 Lrrn4cl LRRN4 C-terminal like gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1603349 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8701184 Tom1l2 target of myb1 like 2 membrane trafficking protein gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1315512 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8701184 Tom1l2 target of myb1 like 2 membrane trafficking protein gene DOID:1115 sarcoma ISO RGD:1315512 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8701184 Tom1l2 target of myb1 like 2 membrane trafficking protein gene DOID:1324 lung cancer ISO RGD:1315512 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8701184 Tom1l2 target of myb1 like 2 membrane trafficking protein gene DOID:4362 cervical cancer ISO RGD:1315512 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8701184 Tom1l2 target of myb1 like 2 membrane trafficking protein gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1315512 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8701184 Tom1l2 target of myb1 like 2 membrane trafficking protein gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1315512 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8701184 Tom1l2 target of myb1 like 2 membrane trafficking protein gene DOID:9119 acute myeloid leukemia ISO RGD:1315512 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8701229 Capn7 calpain 7 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1312532 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8701229 Capn7 calpain 7 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1312532 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8701229 Capn7 calpain 7 gene DOID:1324 lung cancer ISO RGD:1312532 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8701229 Capn7 calpain 7 gene DOID:1909 melanoma ISO RGD:1312532 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8701229 Capn7 calpain 7 gene DOID:2394 ovarian cancer ISO RGD:1312532 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian cancer 8701229 Capn7 calpain 7 gene DOID:3275 thymoma ISO RGD:1312532 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8701229 Capn7 calpain 7 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1312532 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma 8701229 Capn7 calpain 7 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1312532 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 8701229 Capn7 calpain 7 gene DOID:4947 cholangiocarcinoma ISO RGD:1312532 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 8701229 Capn7 calpain 7 gene DOID:5041 esophageal cancer ISO RGD:1312532 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8701229 Capn7 calpain 7 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1312532 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8701229 Capn7 calpain 7 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1312532 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8701229 Capn7 calpain 7 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1312532 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8701229 Capn7 calpain 7 gene DOID:9119 acute myeloid leukemia ISO RGD:1312532 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia, adult 8701261 Septin11 septin 11 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1349067 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8701261 Septin11 septin 11 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1349067 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8701261 Septin11 septin 11 gene DOID:0050950 autosomal recessive cerebellar ataxia ISO RGD:1349067 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia PMID:25741868 8701261 Septin11 septin 11 gene DOID:10534 stomach cancer ISO RGD:1349067 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8701261 Septin11 septin 11 gene DOID:11054 urinary bladder cancer ISO RGD:1349067 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8701261 Septin11 septin 11 gene DOID:1324 lung cancer ISO RGD:1349067 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8701261 Septin11 septin 11 gene DOID:14749 methylmalonic acidemia ISO RGD:1349067 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16823967 8701261 Septin11 septin 11 gene DOID:3275 thymoma ISO RGD:1349067 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8701261 Septin11 septin 11 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1349067 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8701261 Septin11 septin 11 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1349067 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8701279 Sec62 SEC62 homolog, preprotein translocation factor gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1318878 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8701279 Sec62 SEC62 homolog, preprotein translocation factor gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1318878 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8701279 Sec62 SEC62 homolog, preprotein translocation factor gene DOID:11054 urinary bladder cancer ISO RGD:1318878 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8701279 Sec62 SEC62 homolog, preprotein translocation factor gene DOID:5041 esophageal cancer ISO RGD:1318878 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8701279 Sec62 SEC62 homolog, preprotein translocation factor gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1318878 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8701279 Sec62 SEC62 homolog, preprotein translocation factor gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1318878 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8701279 Sec62 SEC62 homolog, preprotein translocation factor gene DOID:9008952 Breast Cancer, Familial ISO RGD:1318878 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8701332 Csdc2 cold shock domain containing C2 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1603657 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8701332 Csdc2 cold shock domain containing C2 gene DOID:10534 stomach cancer ISO RGD:1603657 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8701332 Csdc2 cold shock domain containing C2 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1603657 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8701340 Tspan5 tetraspanin 5 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1602132 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8701340 Tspan5 tetraspanin 5 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1602132 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8701340 Tspan5 tetraspanin 5 gene DOID:10283 prostate cancer ISO RGD:1602132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prostate cancer PMID:23265383 8701340 Tspan5 tetraspanin 5 gene DOID:10283 prostate cancer ISO RGD:1602132 D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 8701340 Tspan5 tetraspanin 5 gene DOID:1909 melanoma ISO RGD:1602132 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8701340 Tspan5 tetraspanin 5 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1602132 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8701340 Tspan5 tetraspanin 5 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1602132 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8701357 Chrac1 chromatin accessibility complex subunit 1 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1319606 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8701357 Chrac1 chromatin accessibility complex subunit 1 gene DOID:11054 urinary bladder cancer ISO RGD:1319606 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8701357 Chrac1 chromatin accessibility complex subunit 1 gene DOID:234 colon adenocarcinoma ISO RGD:1319606 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8701357 Chrac1 chromatin accessibility complex subunit 1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1319606 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8701357 Chrac1 chromatin accessibility complex subunit 1 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1319606 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8701357 Chrac1 chromatin accessibility complex subunit 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1319606 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 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:5746 ovarian serous cystadenocarcinoma ISO RGD:1349183 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8701367 Vps37d VPS37D subunit of ESCRT-I gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1349183 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8701375 Tasor2 transcription activation suppressor family member 2 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1343867 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8701375 Tasor2 transcription activation suppressor family member 2 gene DOID:10534 stomach cancer ISO RGD:1343867 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8701375 Tasor2 transcription activation suppressor family member 2 gene DOID:11054 urinary bladder cancer ISO RGD:1343867 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8701375 Tasor2 transcription activation suppressor family member 2 gene DOID:1115 sarcoma ISO RGD:1343867 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8701375 Tasor2 transcription activation suppressor family member 2 gene DOID:1909 melanoma ISO RGD:1343867 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8701375 Tasor2 transcription activation suppressor family member 2 gene DOID:234 colon adenocarcinoma ISO RGD:1343867 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8701375 Tasor2 transcription activation suppressor family member 2 gene DOID:3070 high grade glioma ISO RGD:1343867 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Glioma susceptibility 1 8701375 Tasor2 transcription activation suppressor family member 2 gene DOID:3275 thymoma ISO RGD:1343867 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8701375 Tasor2 transcription activation suppressor family member 2 gene DOID:4362 cervical cancer ISO RGD:1343867 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8701375 Tasor2 transcription activation suppressor family member 2 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1343867 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 8701375 Tasor2 transcription activation suppressor family member 2 gene DOID:4947 cholangiocarcinoma ISO RGD:1343867 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 8701375 Tasor2 transcription activation suppressor family member 2 gene DOID:5041 esophageal cancer ISO RGD:1343867 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8701375 Tasor2 transcription activation suppressor family member 2 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1343867 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8701375 Tasor2 transcription activation suppressor family member 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1343867 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8701375 Tasor2 transcription activation suppressor family member 2 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1343867 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8701375 Tasor2 transcription activation suppressor family member 2 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1343867 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8701428 Tex12 testis expressed 12 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1351277 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8701428 Tex12 testis expressed 12 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1351277 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8701428 Tex12 testis expressed 12 gene DOID:10534 stomach cancer ISO RGD:1351277 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8701428 Tex12 testis expressed 12 gene DOID:5041 esophageal cancer ISO RGD:1351277 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8701428 Tex12 testis expressed 12 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1351277 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8701449 Adam9 ADAM metallopeptidase domain 9 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1321127 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8701449 Adam9 ADAM metallopeptidase domain 9 gene DOID:0050572 cone-rod dystrophy ISO RGD:1321127 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy 8701449 Adam9 ADAM metallopeptidase domain 9 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1321127 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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:0111013 cone-rod dystrophy 3 ISO RGD:12354473 D RGD:9068941 20250501 OMIA Retinal atrophy - Cone-rod dystrophy 3 PMID:20691256|PMID:20806078|PMID:22065099|PMID:38334230 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 20260602 ClinVar ClinVar Annotator: match by term: ADAM9-related condition | ClinVar Annotator: match by term: CONE-ROD DYSTROPHY 9 | ClinVar Annotator: match by term: Cone-rod dystrophy 9 PMID:17576681|PMID:25741868|PMID:28492532|PMID:31690835|PMID:9536098 8701449 Adam9 ADAM metallopeptidase domain 9 gene DOID:10534 stomach cancer ISO RGD:1321127 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 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:11054 urinary bladder cancer ISO RGD:1321127 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8701449 Adam9 ADAM metallopeptidase domain 9 gene DOID:1115 sarcoma ISO RGD:1321127 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 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:3070 high grade glioma ISO RGD:1321127 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Glioma susceptibility 1 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:3275 thymoma ISO RGD:1321127 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 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:3907 lung squamous cell carcinoma ISO RGD:1321127 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma 8701449 Adam9 ADAM metallopeptidase domain 9 gene DOID:4362 cervical cancer ISO RGD:1321127 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8701449 Adam9 ADAM metallopeptidase domain 9 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1321127 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 8701449 Adam9 ADAM metallopeptidase domain 9 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1321127 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8701449 Adam9 ADAM metallopeptidase domain 9 gene DOID:630 genetic disease ISO RGD:1321127 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8701449 Adam9 ADAM metallopeptidase domain 9 gene DOID:684 hepatocellular carcinoma ISO RGD:1321127 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 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 8701449 Adam9 ADAM metallopeptidase domain 9 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1321127 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8701449 Adam9 ADAM metallopeptidase domain 9 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1321127 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8701483 Neo1 neogenin 1 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:733424 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8701483 Neo1 neogenin 1 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:733424 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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:10534 stomach cancer ISO RGD:733424 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:25741868|PMID:28492532 8701483 Neo1 neogenin 1 gene DOID:1115 sarcoma ISO RGD:733424 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8701483 Neo1 neogenin 1 gene DOID:1909 melanoma ISO RGD:733424 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8701483 Neo1 neogenin 1 gene DOID:234 colon adenocarcinoma ISO RGD:733424 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8701483 Neo1 neogenin 1 gene DOID:3275 thymoma ISO RGD:733424 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma PMID:25741868|PMID:28492532 8701483 Neo1 neogenin 1 gene DOID:4074 pancreatic adenocarcinoma ISO RGD:733424 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma 8701483 Neo1 neogenin 1 gene DOID:4362 cervical cancer ISO RGD:733424 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8701483 Neo1 neogenin 1 gene DOID:4947 cholangiocarcinoma ISO RGD:733424 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma PMID:25741868|PMID:28492532 8701483 Neo1 neogenin 1 gene DOID:5041 esophageal cancer ISO RGD:733424 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8701483 Neo1 neogenin 1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:733424 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8701483 Neo1 neogenin 1 gene DOID:6039 uveal melanoma ISO RGD:733424 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uveal melanoma 8701483 Neo1 neogenin 1 gene DOID:684 hepatocellular carcinoma ISO RGD:733424 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 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:9005539 Familial Prostate Cancer ISO RGD:733424 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial prostate cancer 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:9008952 Breast Cancer, Familial ISO RGD:733424 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868|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:0050572 cone-rod dystrophy ISO RGD:1320101 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Rod-cone dystrophy PMID:11301032|PMID:21447491|PMID:2392416|PMID:25356976|PMID:25429852|PMID:25741868|PMID:28492532|PMID:31872526 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 20260609 ClinVar ClinVar Annotator: match by term: Bothnia retinal dystrophy | ClinVar Annotator: match by term: VASTERBOTTEN DYSTROPHY PMID:10102298|PMID:10102299|PMID:11301032|PMID:11453974|PMID:11868161|PMID:12536144|PMID:14718298|PMID:15953459|PMID:16199547|PMID:17065479|PMID:18344446|PMID:19339744|PMID:19846785|PMID:20238024|PMID:21151602|PMID:21447491|PMID:22171637|PMID:22183382|PMID:23105016|PMID:2392416|PMID:25307992|PMID:25326637|PMID:25356976|PMID:25429852|PMID:25741868|PMID:26355662|PMID:28492532|PMID:31456290|PMID:31872526|PMID:32188692|PMID:32552793|PMID:33188265|PMID:34426522|PMID:9326942 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 20260609 ClinVar ClinVar Annotator: match by term: NEWFOUNDLAND ROD-CONE DYSTROPHY | ClinVar Annotator: match by term: Newfoundland cone-rod dystrophy PMID:10102299|PMID:11301032|PMID:11453974|PMID:11868161|PMID:14718298|PMID:16199547|PMID:17065479|PMID:17576681|PMID:19339744|PMID:21151602|PMID:21447491|PMID:23105016|PMID:2392416|PMID:24265693|PMID:25307992|PMID:25356976|PMID:25429852|PMID:25741868|PMID:26355662|PMID:28492532|PMID:31872526|PMID:33188265|PMID:34795310|PMID:9326942|PMID:9536098 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:10584 retinitis pigmentosa ISO RGD:1320101 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Autosomal recessive Retinitis Pigmentosa | ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10102298|PMID:10102299|PMID:11301032|PMID:11453974|PMID:12536144|PMID:14718298|PMID:15234312|PMID:15953459|PMID:16199547|PMID:17065479|PMID:17576681|PMID:18344446|PMID:19339744|PMID:19846785|PMID:20238024|PMID:21151602|PMID:21447491|PMID:22171637|PMID:22183382|PMID:23105016|PMID:2392416|PMID:23929416|PMID:24265693|PMID:25307992|PMID:25356976|PMID:25429852|PMID:25741868|PMID:26355662|PMID:28492532|PMID:30718709|PMID:31456290|PMID:31872526|PMID:33188265|PMID:33576794|PMID:33851411|PMID:34795310|PMID:35456422|PMID:36247817|PMID:36460718|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 20260609 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:17065479|PMID:18344446|PMID:19339744|PMID:19846785|PMID:20238024|PMID:21151602|PMID:21447491|PMID:22171637|PMID:22183382|PMID:23105016|PMID:2392416|PMID:24265693|PMID:25307992|PMID:25356976|PMID:25429852|PMID:25741868|PMID:26355662|PMID:28492532|PMID:31456290|PMID:31872526|PMID:33188265|PMID:33851411|PMID:34795310|PMID:9326942 8701528 Rlbp1 retinaldehyde binding protein 1 gene DOID:12849 autistic disorder ISO RGD:1320101 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Autism PMID:11453974|PMID:14718298|PMID:23105016|PMID:25307992|PMID:25741868|PMID:26355662|PMID:28492532|PMID:33188265|PMID:9326942 8701528 Rlbp1 retinaldehyde binding protein 1 gene DOID:12849 autistic disorder ISO RGD:1320101 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:11453974|PMID:14718298|PMID:17065479|PMID:19339744|PMID:21151602|PMID:23105016|PMID:25307992|PMID:25741868|PMID:26355662|PMID:28492532|PMID:33188265|PMID:9326942 8701528 Rlbp1 retinaldehyde binding protein 1 gene DOID:1324 lung cancer ISO RGD:1320101 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 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:5679 retinal disease ISO RGD:1320101 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Retinal disorders PMID:10102299|PMID:12536144|PMID:18344446|PMID:22551409|PMID:25741868|PMID:28492532|PMID:33851411 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 20260519 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 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 20260602 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10102298|PMID:10102299|PMID:11301032|PMID:12536144|PMID:15953459|PMID:17065479|PMID:18344446|PMID:19846785|PMID:20238024|PMID:21447491|PMID:22171637|PMID:22183382|PMID:22559933|PMID:2392416|PMID:23929416|PMID:24265693|PMID:24339724|PMID:25429852|PMID:25741868|PMID:26103963|PMID:28041643|PMID:28492532|PMID:31456290|PMID:33851411|PMID:34795310|PMID:36247817|PMID:36259723|PMID:36909829|PMID:37883093|PMID:38470931|PMID:38945349 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:9002775 Cognitive Dysfunction ISO RGD:1320101 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Cognitive impairment PMID:11453974|PMID:14718298|PMID:17065479|PMID:19339744|PMID:21151602|PMID:23105016|PMID:25307992|PMID:25741868|PMID:26355662|PMID:28492532|PMID:33188265|PMID:9326942 8701550 St7l suppression of tumorigenicity 7 like gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1342887 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8701550 St7l suppression of tumorigenicity 7 like gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1342887 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8701550 St7l suppression of tumorigenicity 7 like gene DOID:11054 urinary bladder cancer ISO RGD:1342887 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8701550 St7l suppression of tumorigenicity 7 like gene DOID:1115 sarcoma ISO RGD:1342887 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8701550 St7l suppression of tumorigenicity 7 like gene DOID:3275 thymoma ISO RGD:1342887 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8701550 St7l suppression of tumorigenicity 7 like gene DOID:4362 cervical cancer ISO RGD:1342887 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8701550 St7l suppression of tumorigenicity 7 like gene DOID:4947 cholangiocarcinoma ISO RGD:1342887 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 8701550 St7l suppression of tumorigenicity 7 like gene DOID:5041 esophageal cancer ISO RGD:1342887 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8701550 St7l suppression of tumorigenicity 7 like gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1342887 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8701550 St7l suppression of tumorigenicity 7 like gene DOID:684 hepatocellular carcinoma ISO RGD:1342887 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8701550 St7l suppression of tumorigenicity 7 like gene DOID:9008952 Breast Cancer, Familial ISO RGD:1342887 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8701572 Mydgf myeloid derived growth factor gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1345552 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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:1324 lung cancer ISO RGD:1345552 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8701572 Mydgf myeloid derived growth factor gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1345552 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 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:0050939 uterine corpus endometrial carcinoma ISO RGD:1349627 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma PMID:25741868|PMID:28492532 8701593 Itga2b integrin subunit alpha 2b gene DOID:0051061 stroke ISO RGD:1349627 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9445356 8701593 Itga2b integrin subunit alpha 2b gene DOID:0051061 stroke ISO RGD:1596428 D RGD:9068941 20200609 RGD PMID:15678115|REF_RGD_ID:2316358 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 20260616 ClinVar ClinVar Annotator: match by term: Platelet-type bleeding disorder 16 PMID:12181054|PMID:1317725|PMID:15099289|PMID:18065693|PMID:19691478|PMID:19805198|PMID:20020534|PMID:20081061|PMID:21113249|PMID:21454453|PMID:21917754|PMID:22102273|PMID:22190468|PMID:24498605|PMID:25539746|PMID:25728920|PMID:25741868|PMID:25749862|PMID:25944497|PMID:27469266|PMID:27607598|PMID:27696190|PMID:28492532|PMID:28748566|PMID:29675921|PMID:30138987|PMID:31064749|PMID:32237906|PMID:33276370|PMID:36519321|PMID:38604226|PMID:9215749|PMID:9473221|PMID:9722314|PMID:9763559|PMID:9834222 8701593 Itga2b integrin subunit alpha 2b gene DOID:0060692 platelet-type bleeding disorder 8 ISO RGD:1349627 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Impaired ADP-induced platelet aggregation PMID:11798398|PMID:19691478|PMID:21557682|PMID:24418945|PMID:25728920|PMID:25741868|PMID:27607598|PMID:28492532|PMID:29675921|PMID:32237906 8701593 Itga2b integrin subunit alpha 2b gene DOID:11054 urinary bladder cancer ISO RGD:1349627 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8701593 Itga2b integrin subunit alpha 2b gene DOID:1115 sarcoma ISO RGD:1349627 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma PMID:25741868|PMID:28492532 8701593 Itga2b integrin subunit alpha 2b gene DOID:1247 blood coagulation disease ISO RGD:1349627 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Abnormality of coagulation PMID:25741868 8701593 Itga2b integrin subunit alpha 2b gene DOID:1324 lung cancer ISO RGD:1349627 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8701593 Itga2b integrin subunit alpha 2b gene DOID:1588 thrombocytopenia ISO RGD:1349627 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Thrombocytopenia | ClinVar Annotator: match by term: thrombocytopenia PMID:12008952|PMID:12575292|PMID:18065693|PMID:19805198|PMID:20081061|PMID:21454453|PMID:22102273|PMID:25373348|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 20260519 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:11798398|PMID:19691478|PMID:21113249|PMID:21557682|PMID:24418945|PMID:25728920|PMID:25741868|PMID:27607598|PMID:27696190|PMID:28492532|PMID:29675921|PMID:32237906|PMID:9473221 8701593 Itga2b integrin subunit alpha 2b gene DOID:2219 Glanzmann's thrombasthenia ISO RGD:1349627 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 2 | ClinVar Annotator: match by term: Glanzmann thrombasthenia | ClinVar Annotator: match by term: THROMBASTHENIA OF GLANZMANN AND NAEGELI | ClinVar Annotator: match by term: Thrombasthenia of Glanzmann and Naegeli PMID:10607701|PMID:11091187|PMID:11798398|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:16463284|PMID:16722529|PMID:17488698|PMID:17576681|PMID:18065693|PMID:18422845|PMID:18788610|PMID:18791937|PMID:18976939|PMID:19170775|PMID:19172520|PMID:19175981|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:21557682|PMID:21917754|PMID:22102273|PMID:22190468|PMID:22250950|PMID:22738334|PMID:23305224|PMID:24418945|PMID:25275492|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:29483666|PMID:29675921|PMID:30138987|PMID:30792900|PMID:31064749|PMID:31119735|PMID:32089034|PMID:32139434|PMID:32237906|PMID:32581362|PMID:32757236|PMID:33276370|PMID:33496739|PMID:33928629|PMID:34267460|PMID:34275420|PMID:34355501|PMID:36519321|PMID:36964972|PMID:37647632|PMID:9215749|PMID:9473221|PMID:9536098|PMID:9722314|PMID:9763559|PMID:9834222|PMID:9920835 8701593 Itga2b integrin subunit alpha 2b gene DOID:234 colon adenocarcinoma ISO RGD:1349627 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 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:4074 pancreatic adenocarcinoma ISO RGD:1349627 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma 8701593 Itga2b integrin subunit alpha 2b gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1349627 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney PMID:25741868|PMID:28492532 8701593 Itga2b integrin subunit alpha 2b gene DOID:5041 esophageal cancer ISO RGD:1349627 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 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:5746 ovarian serous cystadenocarcinoma ISO RGD:1349627 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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 systemic 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:9000363 Hematuria ISO RGD:1349627 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Macroscopic hematuria PMID:11798398|PMID:19691478|PMID:21557682|PMID:24418945|PMID:25728920|PMID:25741868|PMID:27607598|PMID:28492532|PMID:29675921|PMID:32237906 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 20260616 ClinVar ClinVar Annotator: match by term: GLANZMANN THROMBASTHENIA 1 | ClinVar Annotator: match by term: Glanzmann thrombasthenia 1 PMID:11798398|PMID:12083483|PMID:12181054|PMID:12424194|PMID:12487785|PMID:1317725|PMID:15099289|PMID:16199547|PMID:16359514|PMID:17488698|PMID:17576681|PMID:18422845|PMID:19691478|PMID:20020534|PMID:21113249|PMID:21454453|PMID:21557682|PMID:21917754|PMID:22190468|PMID:22738334|PMID:24418945|PMID:24498605|PMID:25373348|PMID:25539746|PMID:25728920|PMID:25741868|PMID:25827233|PMID:27607598|PMID:27696190|PMID:28232155|PMID:28492532|PMID:28748566|PMID:28983057|PMID:29675921|PMID:30138987|PMID:31064749|PMID:32237906|PMID:33496739|PMID:34355501|PMID:36519321|PMID:7508443|PMID:7706461|PMID:8282784|PMID:8704171|PMID:8883261|PMID:9215749|PMID:9473221|PMID:9536098|PMID:9722314|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 20260602 ClinVar ClinVar Annotator: match by term: BAK PLATELET-SPECIFIC ANTIGEN PMID:25741868|PMID:28492532 8701593 Itga2b integrin subunit alpha 2b gene DOID:9003417 Menorrhagia ISO RGD:1349627 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Menorrhagia PMID:11798398|PMID:19691478|PMID:21557682|PMID:24418945|PMID:25728920|PMID:25741868|PMID:27607598|PMID:28492532|PMID:29675921|PMID:32237906 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:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1349627 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8701593 Itga2b integrin subunit alpha 2b gene DOID:9008217 Hemorrhage ISO RGD:1349627 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Bleeding | ClinVar Annotator: match by term: bleeding PMID:10607701|PMID:12083483|PMID:25741868 8701593 Itga2b integrin subunit alpha 2b gene DOID:9008421 Epistaxis ISO RGD:1349627 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Epistaxis PMID:19691478|PMID:21113249|PMID:25741868|PMID:27607598|PMID:27696190|PMID:9473221 8701593 Itga2b integrin subunit alpha 2b gene DOID:9008952 Breast Cancer, Familial ISO RGD:1349627 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868|PMID:28492532 8701593 Itga2b integrin subunit alpha 2b gene DOID:9008975 Gastrointestinal Hemorrhage ISO RGD:1349627 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastrointestinal hemorrhage PMID:11798398|PMID:19691478|PMID:21557682|PMID:24418945|PMID:25728920|PMID:25741868|PMID:27607598|PMID:28492532|PMID:29675921|PMID:32237906 8701593 Itga2b integrin subunit alpha 2b gene DOID:9009372 Fetomaternal alloimmune thrombocytopenia 2 ISO RGD:1349627 D RGD:7240710 20250820 OMIM 8701593 Itga2b integrin subunit alpha 2b gene DOID:9009372 Fetomaternal alloimmune thrombocytopenia 2 ISO RGD:1349627 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Fetomaternal alloimmune thrombocytopenia 2 8701593 Itga2b integrin subunit alpha 2b gene DOID:9119 acute myeloid leukemia ISO RGD:1349627 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:25741868|PMID:28492532 8701629 Alg11 ALG11 alpha-1,2-mannosyltransferase gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1604899 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma PMID:25741868|PMID:28492532 8701629 Alg11 ALG11 alpha-1,2-mannosyltransferase gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1604899 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma PMID:25741868|PMID:28492532 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 20260602 ClinVar ClinVar Annotator: match by term: ALG11-congenital disorder of glycosylation | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1P PMID:25741868|PMID:28492532|PMID:28649519|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:10534 stomach cancer ISO RGD:1604899 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:25741868|PMID:28492532 8701629 Alg11 ALG11 alpha-1,2-mannosyltransferase gene DOID:1324 lung cancer ISO RGD:1604899 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer PMID:25741868|PMID:28492532 8701629 Alg11 ALG11 alpha-1,2-mannosyltransferase gene DOID:1826 epilepsy ISO RGD:1604899 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Seizures PMID:25741868 8701629 Alg11 ALG11 alpha-1,2-mannosyltransferase gene DOID:1909 melanoma ISO RGD:1604899 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma PMID:25741868|PMID:28492532 8701629 Alg11 ALG11 alpha-1,2-mannosyltransferase gene DOID:234 colon adenocarcinoma ISO RGD:1604899 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8701629 Alg11 ALG11 alpha-1,2-mannosyltransferase gene DOID:3275 thymoma ISO RGD:1604899 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma PMID:25741868|PMID:28492532 8701629 Alg11 ALG11 alpha-1,2-mannosyltransferase gene DOID:4362 cervical cancer ISO RGD:1604899 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer PMID:25741868|PMID:28492532 8701629 Alg11 ALG11 alpha-1,2-mannosyltransferase gene DOID:4947 cholangiocarcinoma ISO RGD:1604899 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma PMID:25741868|PMID:28492532 8701629 Alg11 ALG11 alpha-1,2-mannosyltransferase gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1604899 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma PMID:25741868|PMID:28492532 8701629 Alg11 ALG11 alpha-1,2-mannosyltransferase gene DOID:630 genetic disease ISO RGD:1604899 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:28649519 8701629 Alg11 ALG11 alpha-1,2-mannosyltransferase gene DOID:9005024 Hereditary Adrenocortical Carcinoma ISO RGD:1604899 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary PMID:25741868|PMID:28492532 8701629 Alg11 ALG11 alpha-1,2-mannosyltransferase gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1604899 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 PMID:25741868|PMID:28492532 8701629 Alg11 ALG11 alpha-1,2-mannosyltransferase gene DOID:9008952 Breast Cancer, Familial ISO RGD:1604899 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8701629 Alg11 ALG11 alpha-1,2-mannosyltransferase gene DOID:9119 acute myeloid leukemia ISO RGD:1604899 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:25741868|PMID:28492532 8701629 Alg11 ALG11 alpha-1,2-mannosyltransferase gene DOID:9256 colorectal cancer ISO RGD:1604899 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:25741868|PMID:28492532 8701648 Rfc3 replication factor C subunit 3 gene DOID:1909 melanoma ISO RGD:1315670 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8701648 Rfc3 replication factor C subunit 3 gene DOID:234 colon adenocarcinoma ISO RGD:1315670 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8701648 Rfc3 replication factor C subunit 3 gene DOID:5041 esophageal cancer ISO RGD:1315670 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8701648 Rfc3 replication factor C subunit 3 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1315670 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8701648 Rfc3 replication factor C subunit 3 gene DOID:6171 uterine carcinosarcoma ISO RGD:1315670 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8701648 Rfc3 replication factor C subunit 3 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1315670 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial prostate cancer 8701648 Rfc3 replication factor C subunit 3 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1315670 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8701675 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:0050562 West syndrome ISO RGD:1344342 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hypsarrhythmia | ClinVar Annotator: match by term: Infantile spasms PMID:25741868|PMID:28492532|PMID:32196822 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:0050835 generalized dystonia ISO RGD:1344342 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Generalized dystonia PMID:25741868|PMID:28492532|PMID:32160274|PMID:32196822|PMID:33057194|PMID:35982159 8701675 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:0051054 coarctation of the aorta ISO RGD:1344342 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Coarctation of aorta PMID:25741868|PMID:28492532|PMID:32196822 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 20260519 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 38 PMID:25741868|PMID:26467025|PMID:28492532|PMID:32160274 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 20260602 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: EEF1A2-related disorder | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:16199547|PMID:17576681|PMID:25741868|PMID:26467025|PMID:26633542|PMID:26740508|PMID:27441201|PMID:28135719|PMID:28492532|PMID:28911200|PMID:30109124|PMID:30377530|PMID:32160274|PMID:32196822|PMID:32725632|PMID:34489640|PMID:37593999|PMID:9536098 8701675 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:0080833 laryngomalacia ISO RGD:1344342 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Congenital laryngomalacia PMID:25741868|PMID:28492532|PMID:32196822 8701675 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:1059 intellectual disability ISO RGD:1344342 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe | ClinVar Annotator: match by term: Moderate intellectual disability | ClinVar Annotator: match by term: Profound intellectual disability PMID:25741868|PMID:28492532 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:10965 spastic diplegia ISO RGD:1344342 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Spastic diplegia PMID:25741868 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 | ClinVar Annotator: match by term: Autistic behavior PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 8701675 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:12859 choreatic disease ISO RGD:1344342 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Chorea PMID:25741868 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:1657 ventricular septal defect ISO RGD:1344342 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ventricular septal defect PMID:25741868|PMID:28492532|PMID:32196822 8701675 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:178 vascular disease ISO RGD:1344342 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Vascular disorder 8701675 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:1824 status epilepticus ISO RGD:1344342 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Status epilepticus PMID:25741868|PMID:28492532|PMID:32196822 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 20260519 ClinVar ClinVar Annotator: match by term: Seizure PMID:26633542|PMID:27441201|PMID:28492532|PMID:28911200|PMID:30109124 8701675 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:1909 melanoma ISO RGD:1344342 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8701675 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:1969 cerebral palsy ISO RGD:1344342 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Athetoid cerebral palsy PMID:25741868 8701675 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:2234 focal epilepsy ISO RGD:1344342 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:25741868|PMID:28492532|PMID:32196822 8701675 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:2303 stereotypic movement disorder ISO RGD:1344342 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Stereotypic movement disorder 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:4074 pancreatic adenocarcinoma ISO RGD:1344342 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma 8701675 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:480 movement disease ISO RGD:1344342 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Movement disorder 8701675 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:543 dystonia ISO RGD:1344342 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25741868 8701675 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:5723 optic atrophy ISO RGD:1344342 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:25741868 8701675 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1344342 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8701675 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:6171 uterine carcinosarcoma ISO RGD:1344342 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8701675 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:630 genetic disease ISO RGD:1344342 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:26633542|PMID:27441201|PMID:28492532|PMID:28911200|PMID:30109124|PMID:7491491|PMID:9253415 8701675 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:8927 learning disability ISO RGD:1344342 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Specific learning disability 8701675 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:9000123 Deglutition Disorders ISO RGD:1344342 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Dysphagia PMID:25741868|PMID:28492532 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:9001276 Failure to Thrive ISO RGD:1344342 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:25741868 8701675 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:9002775 Cognitive Dysfunction ISO RGD:1344342 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Cognitive impairment 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:9005219 Abnormal Reflexes ISO RGD:1344342 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Hyperreflexia PMID:25741868|PMID:27441201|PMID:28135719|PMID:28492532|PMID:31893083|PMID:32160274|PMID:32196822|PMID:33644862 8701675 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:9005603 Muscle Hypotonia ISO RGD:1344342 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia PMID:24697219|PMID:25741868|PMID:28492532|PMID:32196822 8701675 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:9005603 Muscle Hypotonia ISO RGD:1344342 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia PMID:25741868|PMID:28492532|PMID:32196822 8701675 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:9005721 Preeclamptic Toxemia ISO RGD:1344342 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Toxemia of pregnancy PMID:28492532 8701675 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1344342 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8701675 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1344342 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 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:9008952 Breast Cancer, Familial ISO RGD:1344342 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8701675 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:936 brain disease ISO RGD:1344342 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Encephalopathy 8701675 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:9834 hyperopia ISO RGD:1344342 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Hypermetropia 8701687 Itfg1 integrin alpha FG-GAP repeat containing 1 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:735534 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8701687 Itfg1 integrin alpha FG-GAP repeat containing 1 gene DOID:10534 stomach cancer ISO RGD:735534 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8701687 Itfg1 integrin alpha FG-GAP repeat containing 1 gene DOID:1324 lung cancer ISO RGD:735534 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8701687 Itfg1 integrin alpha FG-GAP repeat containing 1 gene DOID:3907 lung squamous cell carcinoma ISO RGD:735534 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma 8701687 Itfg1 integrin alpha FG-GAP repeat containing 1 gene DOID:4362 cervical cancer ISO RGD:735534 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8701687 Itfg1 integrin alpha FG-GAP repeat containing 1 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:735534 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 8701687 Itfg1 integrin alpha FG-GAP repeat containing 1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:735534 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8701687 Itfg1 integrin alpha FG-GAP repeat containing 1 gene DOID:684 hepatocellular carcinoma ISO RGD:735534 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8701687 Itfg1 integrin alpha FG-GAP repeat containing 1 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:735534 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8701687 Itfg1 integrin alpha FG-GAP repeat containing 1 gene DOID:9119 acute myeloid leukemia ISO RGD:735534 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8701722 Chchd1 coiled-coil-helix-coiled-coil-helix domain containing 1 gene DOID:11054 urinary bladder cancer ISO RGD:1316148 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8701722 Chchd1 coiled-coil-helix-coiled-coil-helix domain containing 1 gene DOID:1115 sarcoma ISO RGD:1316148 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8701722 Chchd1 coiled-coil-helix-coiled-coil-helix domain containing 1 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1316148 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 8701722 Chchd1 coiled-coil-helix-coiled-coil-helix domain containing 1 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1316148 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8701729 Cep19 centrosomal protein 19 gene DOID:0050572 cone-rod dystrophy ISO RGD:1602846 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Rod-cone dystrophy PMID:29127258 8701729 Cep19 centrosomal protein 19 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1602846 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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 20260519 ClinVar ClinVar Annotator: match by term: CEP19-related condition PMID:28492532 8701729 Cep19 centrosomal protein 19 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1602846 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8701808 Vps16 VPS16 core subunit of CORVET and HOPS complexes gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1345721 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 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 20260602 ClinVar ClinVar Annotator: match by term: DYSTONIA 30 | ClinVar Annotator: match by term: Dystonia 30 | ClinVar Annotator: match by term: VPS16-related condition PMID:16199547|PMID:25741868|PMID:28492532|PMID:32808683 8701808 Vps16 VPS16 core subunit of CORVET and HOPS complexes gene DOID:10534 stomach cancer ISO RGD:1345721 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8701808 Vps16 VPS16 core subunit of CORVET and HOPS complexes gene DOID:11054 urinary bladder cancer ISO RGD:1345721 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8701808 Vps16 VPS16 core subunit of CORVET and HOPS complexes gene DOID:1115 sarcoma ISO RGD:1345721 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8701808 Vps16 VPS16 core subunit of CORVET and HOPS complexes gene DOID:1324 lung cancer ISO RGD:1345721 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8701808 Vps16 VPS16 core subunit of CORVET and HOPS complexes gene DOID:234 colon adenocarcinoma ISO RGD:1345721 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8701808 Vps16 VPS16 core subunit of CORVET and HOPS complexes gene DOID:3070 high grade glioma ISO RGD:1345721 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Glioma susceptibility 1 8701808 Vps16 VPS16 core subunit of CORVET and HOPS complexes gene DOID:3907 lung squamous cell carcinoma ISO RGD:1345721 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma 8701808 Vps16 VPS16 core subunit of CORVET and HOPS complexes gene DOID:5041 esophageal cancer ISO RGD:1345721 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8701808 Vps16 VPS16 core subunit of CORVET and HOPS complexes gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1345721 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8701808 Vps16 VPS16 core subunit of CORVET and HOPS complexes gene DOID:6171 uterine carcinosarcoma ISO RGD:1345721 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8701808 Vps16 VPS16 core subunit of CORVET and HOPS complexes gene DOID:630 genetic disease ISO RGD:1345721 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 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: Peripheral 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: Splenomegaly 8701808 Vps16 VPS16 core subunit of CORVET and HOPS complexes gene DOID:9008952 Breast Cancer, Familial ISO RGD:1345721 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8701837 Cpn1 carboxypeptidase N subunit 1 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:734334 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 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 20260602 ClinVar ClinVar Annotator: match by term: CARBOXYPEPTIDASE N DEFICIENCY PMID:25741868 8701851 Osbpl3 oxysterol binding protein like 3 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1350234 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8701851 Osbpl3 oxysterol binding protein like 3 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1350234 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8701851 Osbpl3 oxysterol binding protein like 3 gene DOID:10534 stomach cancer ISO RGD:1350234 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8701851 Osbpl3 oxysterol binding protein like 3 gene DOID:11054 urinary bladder cancer ISO RGD:1350234 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8701851 Osbpl3 oxysterol binding protein like 3 gene DOID:1115 sarcoma ISO RGD:1350234 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8701851 Osbpl3 oxysterol binding protein like 3 gene DOID:1324 lung cancer ISO RGD:1350234 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8701851 Osbpl3 oxysterol binding protein like 3 gene DOID:1909 melanoma ISO RGD:1350234 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8701851 Osbpl3 oxysterol binding protein like 3 gene DOID:3275 thymoma ISO RGD:1350234 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Thymoma 8701851 Osbpl3 oxysterol binding protein like 3 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1350234 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma 8701851 Osbpl3 oxysterol binding protein like 3 gene DOID:4362 cervical cancer ISO RGD:1350234 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8701851 Osbpl3 oxysterol binding protein like 3 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1350234 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 8701851 Osbpl3 oxysterol binding protein like 3 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1350234 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8701851 Osbpl3 oxysterol binding protein like 3 gene DOID:6171 uterine carcinosarcoma ISO RGD:1350234 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8701851 Osbpl3 oxysterol binding protein like 3 gene DOID:6354 chronic lymphocytic leukemia/small lymphocytic lymphoma ISO RGD:1350234 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma 8701851 Osbpl3 oxysterol binding protein like 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1350234 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8701851 Osbpl3 oxysterol binding protein like 3 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1350234 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8701851 Osbpl3 oxysterol binding protein like 3 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1350234 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8701851 Osbpl3 oxysterol binding protein like 3 gene DOID:9119 acute myeloid leukemia ISO RGD:1350234 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8701912 Il4i1 interleukin 4 induced 1 gene DOID:0060058 lymphoma ISO RGD:1312498 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lymphoma 8701912 Il4i1 interleukin 4 induced 1 gene DOID:10534 stomach cancer ISO RGD:1312498 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8701912 Il4i1 interleukin 4 induced 1 gene DOID:1909 melanoma ISO RGD:1312498 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8701912 Il4i1 interleukin 4 induced 1 gene DOID:3275 thymoma ISO RGD:1312498 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8701912 Il4i1 interleukin 4 induced 1 gene DOID:4362 cervical cancer ISO RGD:1312498 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8701912 Il4i1 interleukin 4 induced 1 gene DOID:6171 uterine carcinosarcoma ISO RGD:1312498 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 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:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1312498 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8701935 Cspg4 chondroitin sulfate proteoglycan 4 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:730838 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8701935 Cspg4 chondroitin sulfate proteoglycan 4 gene DOID:0051061 stroke ISO RGD:619942 D RGD:9068941 20200609 RGD PMID:21951366|REF_RGD_ID:5686849 8701935 Cspg4 chondroitin sulfate proteoglycan 4 gene DOID:11054 urinary bladder cancer ISO RGD:730838 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 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:1324 lung cancer ISO RGD:730838 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8701935 Cspg4 chondroitin sulfate proteoglycan 4 gene DOID:1909 melanoma ISO RGD:730838 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 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: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:3275 thymoma ISO RGD:730838 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 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:5041 esophageal cancer ISO RGD:730838 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8701935 Cspg4 chondroitin sulfate proteoglycan 4 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:730838 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8701935 Cspg4 chondroitin sulfate proteoglycan 4 gene DOID:684 hepatocellular carcinoma ISO RGD:730838 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 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:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:730838 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8701935 Cspg4 chondroitin sulfate proteoglycan 4 gene DOID:9008952 Breast Cancer, Familial ISO RGD:730838 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 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:10534 stomach cancer ISO RGD:1319416 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8701952 Klf12 KLF transcription factor 12 gene DOID:1909 melanoma ISO RGD:1319416 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 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:4362 cervical cancer ISO RGD:1319416 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8701952 Klf12 KLF transcription factor 12 gene DOID:4947 cholangiocarcinoma ISO RGD:1319416 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 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 8701952 Klf12 KLF transcription factor 12 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1319416 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8701952 Klf12 KLF transcription factor 12 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1319416 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8701952 Klf12 KLF transcription factor 12 gene DOID:9119 acute myeloid leukemia ISO RGD:1319416 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8701964 Cimap2 ciliary microtubule associated protein 2 gene DOID:4947 cholangiocarcinoma ISO RGD:1603553 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 8701964 Cimap2 ciliary microtubule associated protein 2 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1603553 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8701964 Cimap2 ciliary microtubule associated protein 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1603553 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8701990 Ece1 endothelin converting enzyme 1 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:731823 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 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:0050939 uterine corpus endometrial carcinoma ISO RGD:731823 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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: Hirschsprung disease 8701990 Ece1 endothelin converting enzyme 1 gene DOID:10534 stomach cancer ISO RGD:731823 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 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 20260624 OMIM 8701990 Ece1 endothelin converting enzyme 1 gene DOID:10825 essential hypertension ISO RGD:731823 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Essential hypertension, genetic | ClinVar Annotator: match by term: HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO PMID:25741868 8701990 Ece1 endothelin converting enzyme 1 gene DOID:11054 urinary bladder cancer ISO RGD:731823 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8701990 Ece1 endothelin converting enzyme 1 gene DOID:1115 sarcoma ISO RGD:731823 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 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:1324 lung cancer ISO RGD:731823 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 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:1909 melanoma ISO RGD:731823 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 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:3275 thymoma ISO RGD:731823 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 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:5041 esophageal cancer ISO RGD:731823 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8701990 Ece1 endothelin converting enzyme 1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:731823 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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:6354 chronic lymphocytic leukemia/small lymphocytic lymphoma ISO RGD:731823 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma 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 20260624 OMIM 8701990 Ece1 endothelin converting enzyme 1 gene DOID:9001782 Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction ISO RGD:731823 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, cardiac defects, and autonomic dysfunction PMID:25741868|PMID:34298581 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:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:731823 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 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 8702021 Ankrd2 ankyrin repeat domain 2 gene DOID:3275 thymoma ISO RGD:1312939 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8702021 Ankrd2 ankyrin repeat domain 2 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1312939 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8702021 Ankrd2 ankyrin repeat domain 2 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1312939 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8702021 Ankrd2 ankyrin repeat domain 2 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1312939 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8702063 Bltp2 bridge-like lipid transfer protein family member 2 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1605423 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8702063 Bltp2 bridge-like lipid transfer protein family member 2 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1605423 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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: Prostate cancer PMID:23265383 8702063 Bltp2 bridge-like lipid transfer protein family member 2 gene DOID:10283 prostate cancer ISO RGD:1605423 D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 8702063 Bltp2 bridge-like lipid transfer protein family member 2 gene DOID:10534 stomach cancer ISO RGD:1605423 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8702063 Bltp2 bridge-like lipid transfer protein family member 2 gene DOID:11054 urinary bladder cancer ISO RGD:1605423 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8702063 Bltp2 bridge-like lipid transfer protein family member 2 gene DOID:1324 lung cancer ISO RGD:1605423 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8702063 Bltp2 bridge-like lipid transfer protein family member 2 gene DOID:1909 melanoma ISO RGD:1605423 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8702063 Bltp2 bridge-like lipid transfer protein family member 2 gene DOID:234 colon adenocarcinoma ISO RGD:1605423 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8702063 Bltp2 bridge-like lipid transfer protein family member 2 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1605423 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma 8702063 Bltp2 bridge-like lipid transfer protein family member 2 gene DOID:4362 cervical cancer ISO RGD:1605423 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8702063 Bltp2 bridge-like lipid transfer protein family member 2 gene DOID:5041 esophageal cancer ISO RGD:1605423 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8702063 Bltp2 bridge-like lipid transfer protein family member 2 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1605423 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8702063 Bltp2 bridge-like lipid transfer protein family member 2 gene DOID:6039 uveal melanoma ISO RGD:1605423 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uveal melanoma 8702063 Bltp2 bridge-like lipid transfer protein family member 2 gene DOID:6171 uterine carcinosarcoma ISO RGD:1605423 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8702063 Bltp2 bridge-like lipid transfer protein family member 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1605423 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8702063 Bltp2 bridge-like lipid transfer protein family member 2 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1605423 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8702063 Bltp2 bridge-like lipid transfer protein family member 2 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1605423 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8702063 Bltp2 bridge-like lipid transfer protein family member 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1605423 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8702117 Alg13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1351399 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8702117 Alg13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1351399 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8702117 Alg13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1351399 D RGD:8554872 20250812 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 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 20260602 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: Developmental and epileptic encephalopathy, 36 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 36 PMID:16199547|PMID:17576681|PMID:24476948|PMID:25640679|PMID:25732998|PMID:25741868|PMID:26467025|PMID:27781031|PMID:28397838|PMID:28492532|PMID:32631363|PMID:33057194|PMID:33734437|PMID:35240324|PMID:35899201|PMID:35982159|PMID:36368308|PMID:9536098 8702117 Alg13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:0081337 congenital myopathy ISO RGD:1351399 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Congenital myopathy 8702117 Alg13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1351399 D RGD:8554872 20250812 ClinVar ClinVar Annotator: match by term: developmental and epileptic encephalopathy PMID:25741868|PMID:28492532 8702117 Alg13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:10534 stomach cancer ISO RGD:1351399 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8702117 Alg13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:1059 intellectual disability ISO RGD:1351399 D RGD:8554872 20250812 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability 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:1059 intellectual disability ISO RGD:1351399 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 8702117 Alg13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:10907 microcephaly ISO RGD:1351399 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:33734437 8702117 Alg13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:1115 sarcoma ISO RGD:1351399 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8702117 Alg13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:1826 epilepsy ISO RGD:1351399 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:25741868|PMID:33734437 8702117 Alg13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:1827 generalized epilepsy ISO RGD:1351399 D RGD:8554872 20250812 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy 8702117 Alg13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:1909 melanoma ISO RGD:1351399 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8702117 Alg13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:3275 thymoma ISO RGD:1351399 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8702117 Alg13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:4362 cervical cancer ISO RGD:1351399 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8702117 Alg13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:4947 cholangiocarcinoma ISO RGD:1351399 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 8702117 Alg13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:5041 esophageal cancer ISO RGD:1351399 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8702117 Alg13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:5212 congenital disorder of glycosylation ISO RGD:1351399 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation | ClinVar Annotator: match by term: congenital disorders of glycosylation PMID:25741868|PMID:33734437 8702117 Alg13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1351399 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8702117 Alg13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:630 genetic disease ISO RGD:1351399 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532|PMID:35240324 8702117 Alg13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:684 hepatocellular carcinoma ISO RGD:1351399 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8702117 Alg13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:9002079 Paresis ISO RGD:1351399 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hemiparesis 8702117 Alg13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:9003816 Macrocephaly ISO RGD:1351399 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Macrocephaly 8702117 Alg13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351399 D RGD:9068941 20250814 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 20260602 ClinVar ClinVar Annotator: match by term: poor muscle tone PMID:33734437 8702117 Alg13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1351399 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8702117 Alg13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:9007 sudden infant death syndrome ISO RGD:1351399 D RGD:8554872 20250812 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:25741868 8702117 Alg13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:9008086 Developmental Disabilities ISO RGD:1351399 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay PMID:33734437 8702117 Alg13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:9008952 Breast Cancer, Familial ISO RGD:1351399 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8702117 Alg13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:9119 acute myeloid leukemia ISO RGD:1351399 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8702169 Ltb4r leukotriene B4 receptor gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1348020 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 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:2841 asthma no_association ISO RGD:1348020 D RGD:9068941 20260226 RGD DNA:SNPs: :multiple PMID:23167751|REF_RGD_ID:632527164 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:4467 clear cell renal cell carcinoma ISO RGD:1348020 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 8702169 Ltb4r leukotriene B4 receptor gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1348020 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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 20260602 ClinVar ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia | ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis | ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form PMID:14735158|PMID:15039969|PMID:15709974|PMID:18383112|PMID:19443464|PMID:19910179|PMID:22308375|PMID:23775869|PMID:24081995|PMID:24347114|PMID:25657025|PMID:25741868|PMID:28492532 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 20260519 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:15039969|PMID:18383112|PMID:22308375|PMID:23775869|PMID:24081995|PMID:25657025|PMID:25741868|PMID:28492532 8702184 Sftpc surfactant protein C gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:736728 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Proximal muscle weakness in upper limbs 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 20260519 ClinVar ClinVar Annotator: match by term: Pulmonary alveolar proteinosis PMID:25741868 8702184 Sftpc surfactant protein C gene DOID:12347 osteogenesis imperfecta ISO RGD:11665276|RGD:11665301|RGD:11665565|RGD:11665669|RGD:11665904|RGD:11666038|RGD:11666211 D RGD:9068941 20250724 ClinVar ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive PMID:25741868 8702184 Sftpc surfactant protein C gene DOID:12716 newborn respiratory distress syndrome ISO RGD:736728 D RGD:8554872 20260519 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:733829 D RGD:9068941 20250515 RGD PMID:12519727|REF_RGD_ID:4143413 8702184 Sftpc surfactant protein C gene DOID:3082 interstitial lung disease ISO RGD:736728 D RGD:9068941 20250515 RGD DNA:missense mutation:exon:p.I73T (human) PMID:15756222|REF_RGD_ID:4143400 8702184 Sftpc surfactant protein C gene DOID:3082 interstitial lung disease ISO RGD:736728 D RGD:9068941 20250515 RGD DNA:mutations: :multiple (human) PMID:19443464|REF_RGD_ID:4144064 8702184 Sftpc surfactant protein C gene DOID:3082 interstitial lung disease ISO RGD:736728 D RGD:9068941 20250515 RGD protein:decreased expression:lung PMID:11445799|REF_RGD_ID:4143430 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 20260519 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis PMID:22308375|PMID:25657025|PMID:25741868|PMID:27362365|PMID:28492532|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 20260519 ClinVar ClinVar Annotator: match by term: 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 20260519 ClinVar ClinVar Annotator: match by term: Pulmonary surfactant metabolism dysfunction PMID:14735158|PMID:15039969|PMID:17576681|PMID:18383112|PMID:19443464|PMID:20403820|PMID:20658481|PMID:22308375|PMID:23775869|PMID:24033266|PMID:24081995|PMID:25657025|PMID:25741868|PMID:28492532|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 20260519 ClinVar ClinVar Annotator: match by term: Generalized 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 20260602 ClinVar ClinVar Annotator: match by term: PULMONARY ALVEOLAR PROTEINOSIS, CONGENITAL, 2 | ClinVar Annotator: match by term: SFTPC-related disorder | ClinVar Annotator: match by term: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 | ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 2 PMID:11207353|PMID:11991887|PMID:12538769|PMID:14525980|PMID:14735158|PMID:15039969|PMID:17005585|PMID:17576681|PMID:18383112|PMID:19443464|PMID:19910179|PMID:20118944|PMID:20403820|PMID:20658481|PMID:21828032|PMID:22308375|PMID:23166334|PMID:23625987|PMID:23775869|PMID:24033266|PMID:24081995|PMID:25105258|PMID:25657025|PMID:25741868|PMID:28157837|PMID:28492532|PMID:29554876|PMID:29569581|PMID:9536098 8702184 Sftpc surfactant protein C gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:736728 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 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: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:0050939 uterine corpus endometrial carcinoma ISO RGD:1604510 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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 20260602 ClinVar ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 44 | ClinVar Annotator: match by term: Spermatogenic failure 44 | ClinVar Annotator: match by term: spermatogenic failure 44 PMID:25741868 8702202 Cep112 centrosomal protein 112 gene DOID:11054 urinary bladder cancer ISO RGD:1604510 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8702202 Cep112 centrosomal protein 112 gene DOID:1115 sarcoma ISO RGD:1604510 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8702202 Cep112 centrosomal protein 112 gene DOID:1909 melanoma ISO RGD:1604510 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8702202 Cep112 centrosomal protein 112 gene DOID:234 colon adenocarcinoma ISO RGD:1604510 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8702202 Cep112 centrosomal protein 112 gene DOID:3275 thymoma ISO RGD:1604510 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8702202 Cep112 centrosomal protein 112 gene DOID:4362 cervical cancer ISO RGD:1604510 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8702202 Cep112 centrosomal protein 112 gene DOID:4947 cholangiocarcinoma ISO RGD:1604510 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 8702202 Cep112 centrosomal protein 112 gene DOID:5041 esophageal cancer ISO RGD:1604510 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8702202 Cep112 centrosomal protein 112 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1604510 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8702202 Cep112 centrosomal protein 112 gene DOID:6171 uterine carcinosarcoma ISO RGD:1604510 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8702202 Cep112 centrosomal protein 112 gene DOID:684 hepatocellular carcinoma ISO RGD:1604510 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8702202 Cep112 centrosomal protein 112 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1604510 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8702202 Cep112 centrosomal protein 112 gene DOID:9119 acute myeloid leukemia ISO RGD:1604510 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8702257 Dda1 DET1 and DDB1 associated 1 gene DOID:10534 stomach cancer ISO RGD:1601973 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8702257 Dda1 DET1 and DDB1 associated 1 gene DOID:11054 urinary bladder cancer ISO RGD:1601973 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8702277 Krt84 keratin 84 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1343377 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8702277 Krt84 keratin 84 gene DOID:1324 lung cancer ISO RGD:1343377 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8702277 Krt84 keratin 84 gene DOID:4362 cervical cancer ISO RGD:1343377 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 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:3275 thymoma ISO RGD:1317143 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8702289 Elk3 ETS transcription factor ELK3 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1317143 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 8702289 Elk3 ETS transcription factor ELK3 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1317143 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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 8702316 Habp4 hyaluronan binding protein 4 gene DOID:10534 stomach cancer ISO RGD:1315131 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8702316 Habp4 hyaluronan binding protein 4 gene DOID:1115 sarcoma ISO RGD:1315131 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8702316 Habp4 hyaluronan binding protein 4 gene DOID:234 colon adenocarcinoma ISO RGD:1315131 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8702316 Habp4 hyaluronan binding protein 4 gene DOID:4362 cervical cancer ISO RGD:1315131 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8702316 Habp4 hyaluronan binding protein 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1315131 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8702316 Habp4 hyaluronan binding protein 4 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1315131 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8702316 Habp4 hyaluronan binding protein 4 gene DOID:9256 colorectal cancer ISO RGD:1315131 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colorectal cancer 8702337 Pgp phosphoglycolate phosphatase gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1351096 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 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 20260602 ClinVar ClinVar Annotator: match by term: BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY | ClinVar Annotator: match by term: Brachycephaly, trichomegaly, and developmental delay PMID:25741868 8702344 Rps23 ribosomal protein S23 gene DOID:11830 myopia ISO RGD:1343302 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Myopia 8702344 Rps23 ribosomal protein S23 gene DOID:12849 autistic disorder ISO RGD:1343302 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Autistic behavior 8702344 Rps23 ribosomal protein S23 gene DOID:2394 ovarian cancer ISO RGD:1343302 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian cancer 8702344 Rps23 ribosomal protein S23 gene DOID:4362 cervical cancer ISO RGD:1343302 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8702344 Rps23 ribosomal protein S23 gene DOID:5041 esophageal cancer ISO RGD:1343302 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8702344 Rps23 ribosomal protein S23 gene DOID:5557 testicular germ cell cancer ISO RGD:1343302 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Germ cell tumor of testis 8702344 Rps23 ribosomal protein S23 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1343302 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8702344 Rps23 ribosomal protein S23 gene DOID:684 hepatocellular carcinoma ISO RGD:1343302 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8702344 Rps23 ribosomal protein S23 gene DOID:9002775 Cognitive Dysfunction ISO RGD:1343302 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Cognitive impairment 8702344 Rps23 ribosomal protein S23 gene DOID:9003654 Testicular Germ Cell Tumor ISO RGD:1343302 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Germ cell tumor of testis 8702344 Rps23 ribosomal protein S23 gene DOID:9005077 Joint Instability ISO RGD:1343302 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Joint hypermobility 8702344 Rps23 ribosomal protein S23 gene DOID:9005603 Muscle Hypotonia ISO RGD:1343302 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Neonatal hypotonia 8702344 Rps23 ribosomal protein S23 gene DOID:9007661 Dwarfism ISO RGD:1343302 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Short stature 8702359 Eml6 EMAP like 6 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:2302327 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8702359 Eml6 EMAP like 6 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:2302327 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8702359 Eml6 EMAP like 6 gene DOID:0060058 lymphoma ISO RGD:2302327 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lymphoma 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:1115 sarcoma ISO RGD:2302327 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8702359 Eml6 EMAP like 6 gene DOID:3275 thymoma ISO RGD:2302327 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8702359 Eml6 EMAP like 6 gene DOID:4947 cholangiocarcinoma ISO RGD:2302327 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 8702359 Eml6 EMAP like 6 gene DOID:5041 esophageal cancer ISO RGD:2302327 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8702359 Eml6 EMAP like 6 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:2302327 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8702359 Eml6 EMAP like 6 gene DOID:6171 uterine carcinosarcoma ISO RGD:2302327 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8702359 Eml6 EMAP like 6 gene DOID:6354 chronic lymphocytic leukemia/small lymphocytic lymphoma ISO RGD:2302327 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma 8702359 Eml6 EMAP like 6 gene DOID:684 hepatocellular carcinoma ISO RGD:2302327 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 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 8702359 Eml6 EMAP like 6 gene DOID:9008952 Breast Cancer, Familial ISO RGD:2302327 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Breast cancer, familial 8702359 Eml6 EMAP like 6 gene DOID:9119 acute myeloid leukemia ISO RGD:2302327 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8702408 Amer3 APC membrane recruitment protein 3 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1601927 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8702408 Amer3 APC membrane recruitment protein 3 gene DOID:4362 cervical cancer ISO RGD:1601927 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8702408 Amer3 APC membrane recruitment protein 3 gene DOID:9912 hydrocele ISO RGD:1601927 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: hydrocele PMID:32641753 8702432 Ncam2 neural cell adhesion molecule 2 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1342930 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8702432 Ncam2 neural cell adhesion molecule 2 gene DOID:10534 stomach cancer ISO RGD:1342930 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8702432 Ncam2 neural cell adhesion molecule 2 gene DOID:1115 sarcoma ISO RGD:1342930 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8702432 Ncam2 neural cell adhesion molecule 2 gene DOID:12849 autistic disorder ISO RGD:1342930 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:25741868 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:234 colon adenocarcinoma ISO RGD:1342930 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8702432 Ncam2 neural cell adhesion molecule 2 gene DOID:3275 thymoma ISO RGD:1342930 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8702432 Ncam2 neural cell adhesion molecule 2 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1342930 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma 8702432 Ncam2 neural cell adhesion molecule 2 gene DOID:4362 cervical cancer ISO RGD:1342930 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8702432 Ncam2 neural cell adhesion molecule 2 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1342930 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8702432 Ncam2 neural cell adhesion molecule 2 gene DOID:6171 uterine carcinosarcoma ISO RGD:1342930 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8702432 Ncam2 neural cell adhesion molecule 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1342930 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 8702432 Ncam2 neural cell adhesion molecule 2 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1342930 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8702457 Sparcl1 SPARC like 1 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:736595 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8702457 Sparcl1 SPARC like 1 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:736595 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8702457 Sparcl1 SPARC like 1 gene DOID:10534 stomach cancer ISO RGD:736595 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8702457 Sparcl1 SPARC like 1 gene DOID:11054 urinary bladder cancer ISO RGD:736595 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 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:1909 melanoma ISO RGD:736595 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 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:3275 thymoma ISO RGD:736595 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8702457 Sparcl1 SPARC like 1 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:736595 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 8702457 Sparcl1 SPARC like 1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:736595 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8702457 Sparcl1 SPARC like 1 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:736595 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8702457 Sparcl1 SPARC like 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:736595 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast 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:0050939 uterine corpus endometrial carcinoma ISO RGD:736447 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8702485 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:0050967 spinocerebellar ataxia 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:0081088 chronic myelogenous leukemia, BCR-ABL1 positive ISO RGD:736447 D RGD:9068941 20260409 CTD CTD Direct Evidence: marker/mechanism PMID:23777986 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:10534 stomach cancer ISO RGD:736447 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8702485 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:11054 urinary bladder cancer ISO RGD:736447 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8702485 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:1324 lung cancer ISO RGD:736447 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 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:234 colon adenocarcinoma ISO RGD:736447 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 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:3275 thymoma ISO RGD:736447 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 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:3907 lung squamous cell carcinoma ISO RGD:736447 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma 8702485 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:4362 cervical cancer ISO RGD:736447 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 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:5746 ovarian serous cystadenocarcinoma ISO RGD:736447 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 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: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:9008952 Breast Cancer, Familial ISO RGD:736447 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 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:0050387 nonpapillary renal cell carcinoma ISO RGD:1319812 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma PMID:25741868|PMID:28492532 8702509 Rigi RNA sensor RIG-I gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1319812 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8702509 Rigi RNA sensor RIG-I gene DOID:10534 stomach cancer ISO RGD:1319812 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8702509 Rigi RNA sensor RIG-I gene DOID:11054 urinary bladder cancer ISO RGD:1319812 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8702509 Rigi RNA sensor RIG-I gene DOID:1115 sarcoma ISO RGD:1319812 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8702509 Rigi RNA sensor RIG-I gene DOID:1324 lung cancer ISO RGD:1319812 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer PMID:25741868|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:1909 melanoma ISO RGD:1319812 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma PMID:25741868|PMID:28492532 8702509 Rigi RNA sensor RIG-I gene DOID:234 colon adenocarcinoma ISO RGD:1319812 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 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:3070 high grade glioma ISO RGD:1319812 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Glioma susceptibility 1 8702509 Rigi RNA sensor RIG-I gene DOID:3275 thymoma ISO RGD:1319812 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8702509 Rigi RNA sensor RIG-I gene DOID:3907 lung squamous cell carcinoma ISO RGD:1319812 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma 8702509 Rigi RNA sensor RIG-I gene DOID:4362 cervical cancer ISO RGD:1319812 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer PMID:25741868|PMID:28492532 8702509 Rigi RNA sensor RIG-I gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1319812 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney PMID:25741868|PMID:28492532 8702509 Rigi RNA sensor RIG-I gene DOID:4947 cholangiocarcinoma ISO RGD:1319812 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma PMID:25741868|PMID:28492532 8702509 Rigi RNA sensor RIG-I gene DOID:5041 esophageal cancer ISO RGD:1319812 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8702509 Rigi RNA sensor RIG-I gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1319812 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8702509 Rigi RNA sensor RIG-I gene DOID:630 genetic disease ISO RGD:1319812 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8702509 Rigi RNA sensor RIG-I gene DOID:684 hepatocellular carcinoma ISO RGD:1319812 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:25741868|PMID:28492532 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 20260602 ClinVar ClinVar Annotator: match by term: RIGI-related condition | ClinVar Annotator: match by term: SINGLETON-MERTEN SYNDROME 2 | ClinVar Annotator: match by term: Singleton-Merten syndrome 2 PMID:19859543|PMID:25741868|PMID:28180316|PMID:28492532|PMID:36228008 8702509 Rigi RNA sensor RIG-I gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1319812 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 PMID:25741868|PMID:28492532 8702509 Rigi RNA sensor RIG-I gene DOID:9008952 Breast Cancer, Familial ISO RGD:1319812 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8702509 Rigi RNA sensor RIG-I gene DOID:9119 acute myeloid leukemia ISO RGD:1319812 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8702530 Exosc5 exosome component 5 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1317301 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8702530 Exosc5 exosome component 5 gene DOID:1324 lung cancer ISO RGD:1317301 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8702530 Exosc5 exosome component 5 gene DOID:4362 cervical cancer ISO RGD:1317301 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8702530 Exosc5 exosome component 5 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1317301 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 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:684 hepatocellular carcinoma ISO RGD:1317301 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 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 | 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:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1317301 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 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: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:5746 ovarian serous cystadenocarcinoma ISO RGD:1322028 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8702555 Prkaa2 protein kinase AMP-activated catalytic subunit alpha 2 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:730888 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 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:0050939 uterine corpus endometrial carcinoma ISO RGD:730888 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8702555 Prkaa2 protein kinase AMP-activated catalytic subunit alpha 2 gene DOID:0051061 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:0051064 left ventricular failure 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: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:5746 ovarian serous cystadenocarcinoma ISO RGD:730888 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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: Severe 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:9002457 Experimental Arthritis ISO RGD:730888 D RGD:9068941 20250710 CTD CTD Direct Evidence: therapeutic PMID:40010574 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:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:730888 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 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:9119 acute myeloid leukemia ISO RGD:730888 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 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:0050387 nonpapillary renal cell carcinoma ISO RGD:1604479 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8702598 Srek1ip1 SREK1 interacting protein 1 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1604479 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8702598 Srek1ip1 SREK1 interacting protein 1 gene DOID:10534 stomach cancer ISO RGD:1604479 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8702598 Srek1ip1 SREK1 interacting protein 1 gene DOID:3275 thymoma ISO RGD:1604479 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8702598 Srek1ip1 SREK1 interacting protein 1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1604479 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8702615 Galnt14 polypeptide N-acetylgalactosaminyltransferase 14 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1320757 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8702615 Galnt14 polypeptide N-acetylgalactosaminyltransferase 14 gene DOID:10534 stomach cancer ISO RGD:1320757 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8702615 Galnt14 polypeptide N-acetylgalactosaminyltransferase 14 gene DOID:1115 sarcoma ISO RGD:1320757 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8702615 Galnt14 polypeptide N-acetylgalactosaminyltransferase 14 gene DOID:4362 cervical cancer ISO RGD:1320757 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8702615 Galnt14 polypeptide N-acetylgalactosaminyltransferase 14 gene DOID:4947 cholangiocarcinoma ISO RGD:1320757 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 8702615 Galnt14 polypeptide N-acetylgalactosaminyltransferase 14 gene DOID:5041 esophageal cancer ISO RGD:1320757 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8702615 Galnt14 polypeptide N-acetylgalactosaminyltransferase 14 gene DOID:6171 uterine carcinosarcoma ISO RGD:1320757 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8702615 Galnt14 polypeptide N-acetylgalactosaminyltransferase 14 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1320757 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 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:9008952 Breast Cancer, Familial ISO RGD:1320757 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8702615 Galnt14 polypeptide N-acetylgalactosaminyltransferase 14 gene DOID:9119 acute myeloid leukemia ISO RGD:1320757 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8702642 Dyrk1b dual specificity tyrosine phosphorylation regulated kinase 1B gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1316288 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 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: Abdominal obesity-metabolic syndrome 3 | ClinVar Annotator: match by term: DYRK1B-related condition | ClinVar Annotator: match by term: abdominal obesity-metabolic syndrome 3 PMID:17576681|PMID:24827035|PMID:25741868|PMID:28492532|PMID:32041611|PMID:9536098 8702642 Dyrk1b dual specificity tyrosine phosphorylation regulated kinase 1B gene DOID:11054 urinary bladder cancer ISO RGD:1316288 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 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: Diamond-Blackfan 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:3275 thymoma ISO RGD:1316288 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8702642 Dyrk1b dual specificity tyrosine phosphorylation regulated kinase 1B gene DOID:4362 cervical cancer ISO RGD:1316288 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8702642 Dyrk1b dual specificity tyrosine phosphorylation regulated kinase 1B gene DOID:5041 esophageal cancer ISO RGD:1316288 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8702642 Dyrk1b dual specificity tyrosine phosphorylation regulated kinase 1B gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1316288 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1316288 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8702642 Dyrk1b dual specificity tyrosine phosphorylation regulated kinase 1B gene DOID:9008952 Breast Cancer, Familial ISO RGD:1316288 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 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:0050387 nonpapillary renal cell carcinoma ISO RGD:1312192 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8702700 Coq4 coenzyme Q4 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1312192 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8702700 Coq4 coenzyme Q4 gene DOID:0050952 spastic ataxia ISO RGD:1312192 D RGD:8554872 20260519 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 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 20260602 ClinVar ClinVar Annotator: match by term: COENZYME Q10 DEFICIENCY, PRIMARY, 7 | ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 | ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:16199547|PMID:17576681|PMID:23533218|PMID:23774949|PMID:25658047|PMID:25741868|PMID:26185144|PMID:27374853|PMID:28465093|PMID:28472853|PMID:28492532|PMID:28540186|PMID:29980630|PMID:31325447|PMID:31396399|PMID:31440721|PMID:31967322|PMID:32718099|PMID:32860008|PMID:33215859|PMID:33704555|PMID:34299348|PMID:34440436|PMID:34445196|PMID:34638552|PMID:34656997|PMID:34992632|PMID:35154243|PMID:35598585|PMID:36047608|PMID:39759098|PMID:9536098 8702700 Coq4 coenzyme Q4 gene DOID:10534 stomach cancer ISO RGD:1312192 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8702700 Coq4 coenzyme Q4 gene DOID:1059 intellectual disability ISO RGD:1312192 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25658047|PMID:25741868|PMID:26185144|PMID:28492532|PMID:31967322|PMID:32718099|PMID:33704555|PMID:34440436|PMID:34445196 8702700 Coq4 coenzyme Q4 gene DOID:10907 microcephaly ISO RGD:1312192 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25658047|PMID:25741868|PMID:26185144|PMID:28492532|PMID:31967322|PMID:32718099|PMID:33704555|PMID:34440436|PMID:34445196 8702700 Coq4 coenzyme Q4 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1312192 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Attention deficit hyperactivity disorder PMID:25658047|PMID:25741868|PMID:26185144|PMID:28492532|PMID:31967322|PMID:32718099|PMID:33704555|PMID:34440436|PMID:34445196 8702700 Coq4 coenzyme Q4 gene DOID:1324 lung cancer ISO RGD:1312192 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8702700 Coq4 coenzyme Q4 gene DOID:1826 epilepsy ISO RGD:1312192 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Seizure PMID:25658047|PMID:25741868|PMID:26185144|PMID:28492532|PMID:31967322|PMID:32718099|PMID:33704555|PMID:34440436|PMID:34445196 8702700 Coq4 coenzyme Q4 gene DOID:4362 cervical cancer ISO RGD:1312192 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8702700 Coq4 coenzyme Q4 gene DOID:5041 esophageal cancer ISO RGD:1312192 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8702700 Coq4 coenzyme Q4 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1312192 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8702700 Coq4 coenzyme Q4 gene DOID:630 genetic disease ISO RGD:1312192 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25658047|PMID:25741868|PMID:25954003|PMID:26185144|PMID:27618451|PMID:28490743|PMID:28492532|PMID:31967322|PMID:32718099|PMID:33704555|PMID:34440436|PMID:34445196 8702700 Coq4 coenzyme Q4 gene DOID:9005603 Muscle Hypotonia ISO RGD:1312192 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hypotonia PMID:25658047|PMID:25741868|PMID:26185144|PMID:28492532|PMID:31967322|PMID:32718099|PMID:33704555|PMID:34440436|PMID:34445196 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 20260602 ClinVar ClinVar Annotator: match by term: SPASTIC ATAXIA 10, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Spastic ataxia 10, autosomal recessive PMID:16199547|PMID:25658047|PMID:25741868|PMID:26185144|PMID:28252636|PMID:28492532|PMID:28540186|PMID:30659264|PMID:30847826|PMID:31325447|PMID:31396399|PMID:31967322|PMID:32718099|PMID:33704555|PMID:34440436|PMID:34445196|PMID:34656997|PMID:34992632|PMID:35598585|PMID:36047608|PMID:38013626|PMID:39759098 8702700 Coq4 coenzyme Q4 gene DOID:9008086 Developmental Disabilities ISO RGD:1312192 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25658047|PMID:25741868|PMID:26185144|PMID:28492532|PMID:31967322|PMID:32718099|PMID:33704555|PMID:34440436|PMID:34445196 8702700 Coq4 coenzyme Q4 gene DOID:9008582 Developmental Disease ISO RGD:1312192 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8702712 Per2 period circadian regulator 2 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:737181 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 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:0050939 uterine corpus endometrial carcinoma ISO RGD:737181 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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:0081088 chronic myelogenous leukemia, BCR-ABL1 positive ISO RGD:737181 D RGD:9068941 20260409 CTD CTD Direct Evidence: marker/mechanism PMID:16999817 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 20260602 ClinVar ClinVar Annotator: match by term: Advanced sleep phase syndrome 1 | ClinVar Annotator: match by term: PER2-related condition PMID:25741868|PMID:28492532 8702712 Per2 period circadian regulator 2 gene DOID:10534 stomach cancer ISO RGD:737181 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8702712 Per2 period circadian regulator 2 gene DOID:11054 urinary bladder cancer ISO RGD:737181 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 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:1324 lung cancer ISO RGD:737181 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 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:4362 cervical cancer ISO RGD:737181 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8702712 Per2 period circadian regulator 2 gene DOID:5041 esophageal cancer ISO RGD:737181 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8702712 Per2 period circadian regulator 2 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:737181 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8702712 Per2 period circadian regulator 2 gene DOID:6354 chronic lymphocytic leukemia/small lymphocytic lymphoma ISO RGD:737181 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma 8702712 Per2 period circadian regulator 2 gene DOID:684 hepatocellular carcinoma ISO RGD:737181 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 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: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: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:9004083 Familial Pancreatic Carcinoma ISO RGD:737181 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial pancreatic carcinoma 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:9008952 Breast Cancer, Familial ISO RGD:737181 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8702712 Per2 period circadian regulator 2 gene DOID:9119 acute myeloid leukemia ISO RGD:737181 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 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:0050387 nonpapillary renal cell carcinoma ISO RGD:1353912 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8702771 Hdac9 histone deacetylase 9 gene DOID:0050888 syndromic intellectual disability ISO RGD:1353912 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability PMID:25741868 8702771 Hdac9 histone deacetylase 9 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1353912 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8702771 Hdac9 histone deacetylase 9 gene DOID:0051061 stroke ISO RGD:1353912 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22306652 8702771 Hdac9 histone deacetylase 9 gene DOID:10534 stomach cancer ISO RGD:1353912 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8702771 Hdac9 histone deacetylase 9 gene DOID:1115 sarcoma ISO RGD:1353912 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8702771 Hdac9 histone deacetylase 9 gene DOID:1324 lung cancer ISO RGD:1353912 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8702771 Hdac9 histone deacetylase 9 gene DOID:1909 melanoma ISO RGD:1353912 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 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:3070 high grade glioma ISO RGD:1353912 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Glioma susceptibility 1 8702771 Hdac9 histone deacetylase 9 gene DOID:3275 thymoma ISO RGD:1353912 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 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:4362 cervical cancer ISO RGD:1353912 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8702771 Hdac9 histone deacetylase 9 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1353912 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 8702771 Hdac9 histone deacetylase 9 gene DOID:5041 esophageal cancer ISO RGD:1353912 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8702771 Hdac9 histone deacetylase 9 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1353912 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 8702771 Hdac9 histone deacetylase 9 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1353912 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8702771 Hdac9 histone deacetylase 9 gene DOID:684 hepatocellular carcinoma ISO RGD:1353912 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 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 20260602 ClinVar ClinVar Annotator: match by term: Auriculocondylar syndrome 4 8702771 Hdac9 histone deacetylase 9 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1353912 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8702771 Hdac9 histone deacetylase 9 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1353912 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8702771 Hdac9 histone deacetylase 9 gene DOID:9119 acute myeloid leukemia ISO RGD:1353912 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 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 20250729 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 8702839 Tbl2 transducin beta like 2 gene DOID:4362 cervical cancer ISO RGD:1354068 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8702839 Tbl2 transducin beta like 2 gene DOID:5041 esophageal cancer ISO RGD:1354068 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8702839 Tbl2 transducin beta like 2 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1354068 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8702839 Tbl2 transducin beta like 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1354068 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 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:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1354068 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8702856 Znf750 zinc finger protein 750 gene DOID:9001638 Seborrhea-Like Dermatitis with Psoriasiform Elements ISO RGD:1602862 D RGD:7240710 20180130 OMIM 8702863 Garnl3 GTPase activating Rap/RanGAP domain like 3 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1346418 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8702863 Garnl3 GTPase activating Rap/RanGAP domain like 3 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1346418 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8702863 Garnl3 GTPase activating Rap/RanGAP domain like 3 gene DOID:10534 stomach cancer ISO RGD:1346418 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8702863 Garnl3 GTPase activating Rap/RanGAP domain like 3 gene DOID:1059 intellectual disability ISO RGD:1346418 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Intellectual Disability 8702863 Garnl3 GTPase activating Rap/RanGAP domain like 3 gene DOID:11054 urinary bladder cancer ISO RGD:1346418 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8702863 Garnl3 GTPase activating Rap/RanGAP domain like 3 gene DOID:1115 sarcoma ISO RGD:1346418 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8702863 Garnl3 GTPase activating Rap/RanGAP domain like 3 gene DOID:1324 lung cancer ISO RGD:1346418 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8702863 Garnl3 GTPase activating Rap/RanGAP domain like 3 gene DOID:234 colon adenocarcinoma ISO RGD:1346418 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8702863 Garnl3 GTPase activating Rap/RanGAP domain like 3 gene DOID:5041 esophageal cancer ISO RGD:1346418 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8702863 Garnl3 GTPase activating Rap/RanGAP domain like 3 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1346418 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 8702863 Garnl3 GTPase activating Rap/RanGAP domain like 3 gene DOID:6171 uterine carcinosarcoma ISO RGD:1346418 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8702863 Garnl3 GTPase activating Rap/RanGAP domain like 3 gene DOID:9004083 Familial Pancreatic Carcinoma ISO RGD:1346418 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial pancreatic carcinoma 8702863 Garnl3 GTPase activating Rap/RanGAP domain like 3 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1346418 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8702863 Garnl3 GTPase activating Rap/RanGAP domain like 3 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1346418 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8702863 Garnl3 GTPase activating Rap/RanGAP domain like 3 gene DOID:9119 acute myeloid leukemia ISO RGD:1346418 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8702923 Ss18l1 SS18L1 subunit of BAF chromatin remodeling complex gene DOID:10534 stomach cancer ISO RGD:1345361 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8702923 Ss18l1 SS18L1 subunit of BAF chromatin remodeling complex gene DOID:11054 urinary bladder cancer ISO RGD:1345361 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8702923 Ss18l1 SS18L1 subunit of BAF chromatin remodeling complex gene DOID:3275 thymoma ISO RGD:1345361 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 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: Amyotrophic lateral sclerosis PMID:25741868 8702923 Ss18l1 SS18L1 subunit of BAF chromatin remodeling complex gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1345361 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8702923 Ss18l1 SS18L1 subunit of BAF chromatin remodeling complex gene DOID:6171 uterine carcinosarcoma ISO RGD:1345361 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8702957 Arpc1a actin related protein 2/3 complex subunit 1A gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1344294 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8702957 Arpc1a actin related protein 2/3 complex subunit 1A gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1344294 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8702957 Arpc1a actin related protein 2/3 complex subunit 1A gene DOID:0060058 lymphoma ISO RGD:1344294 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lymphoma 8702957 Arpc1a actin related protein 2/3 complex subunit 1A gene DOID:10534 stomach cancer ISO RGD:1344294 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8702957 Arpc1a actin related protein 2/3 complex subunit 1A gene DOID:1324 lung cancer ISO RGD:1344294 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 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:4362 cervical cancer ISO RGD:1344294 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 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 8702957 Arpc1a actin related protein 2/3 complex subunit 1A gene DOID:5557 testicular germ cell cancer ISO RGD:1344294 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Germ cell tumor of testis 8702957 Arpc1a actin related protein 2/3 complex subunit 1A gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1344294 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8702957 Arpc1a actin related protein 2/3 complex subunit 1A gene DOID:684 hepatocellular carcinoma ISO RGD:1344294 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8702957 Arpc1a actin related protein 2/3 complex subunit 1A gene DOID:9003654 Testicular Germ Cell Tumor ISO RGD:1344294 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Germ cell tumor of testis 8702957 Arpc1a actin related protein 2/3 complex subunit 1A gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1344294 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8702957 Arpc1a actin related protein 2/3 complex subunit 1A gene DOID:9008952 Breast Cancer, Familial ISO RGD:1344294 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8702971 Tmem120a transmembrane protein 120A gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1605325 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8702971 Tmem120a transmembrane protein 120A gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1605325 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8702971 Tmem120a transmembrane protein 120A gene DOID:10534 stomach cancer ISO RGD:1605325 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8702971 Tmem120a transmembrane protein 120A gene DOID:11054 urinary bladder cancer ISO RGD:1605325 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8702971 Tmem120a transmembrane protein 120A gene DOID:1324 lung cancer ISO RGD:1605325 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8702971 Tmem120a transmembrane protein 120A gene DOID:4362 cervical cancer ISO RGD:1605325 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8702971 Tmem120a transmembrane protein 120A gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1605325 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8702971 Tmem120a transmembrane protein 120A gene DOID:6039 uveal melanoma ISO RGD:1605325 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uveal melanoma 8702971 Tmem120a transmembrane protein 120A gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1605325 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8702971 Tmem120a transmembrane protein 120A gene DOID:9008952 Breast Cancer, Familial ISO RGD:1605325 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8702971 Tmem120a transmembrane protein 120A gene DOID:9119 acute myeloid leukemia ISO RGD:1605325 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8702994 Abcc12 ATP binding cassette subfamily C member 12 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1342698 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8702994 Abcc12 ATP binding cassette subfamily C member 12 gene DOID:11054 urinary bladder cancer ISO RGD:1342698 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8702994 Abcc12 ATP binding cassette subfamily C member 12 gene DOID:1909 melanoma ISO RGD:1342698 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8702994 Abcc12 ATP binding cassette subfamily C member 12 gene DOID:3275 thymoma ISO RGD:1342698 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 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:6171 uterine carcinosarcoma ISO RGD:1342698 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 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 8702994 Abcc12 ATP binding cassette subfamily C member 12 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1342698 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8703039 Numbl NUMB like endocytic adaptor protein gene DOID:10534 stomach cancer ISO RGD:1316854 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8703039 Numbl NUMB like endocytic adaptor protein gene DOID:4362 cervical cancer ISO RGD:1316854 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8703039 Numbl NUMB like endocytic adaptor protein gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1316854 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 8703039 Numbl NUMB like endocytic adaptor protein gene DOID:4947 cholangiocarcinoma ISO RGD:1316854 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 8703039 Numbl NUMB like endocytic adaptor protein gene DOID:5041 esophageal cancer ISO RGD:1316854 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8703039 Numbl NUMB like endocytic adaptor protein gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1316854 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8703039 Numbl NUMB like endocytic adaptor protein gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1316854 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 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 8703074 Spmip9 sperm microtubule inner protein 9 gene DOID:11054 urinary bladder cancer ISO RGD:1602971 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8703074 Spmip9 sperm microtubule inner protein 9 gene DOID:6171 uterine carcinosarcoma ISO RGD:1602971 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8703091 Tmem143 transmembrane protein 143 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1602477 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8703091 Tmem143 transmembrane protein 143 gene DOID:10534 stomach cancer ISO RGD:1602477 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8703091 Tmem143 transmembrane protein 143 gene DOID:3275 thymoma ISO RGD:1602477 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8703091 Tmem143 transmembrane protein 143 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1602477 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 8703091 Tmem143 transmembrane protein 143 gene DOID:5041 esophageal cancer ISO RGD:1602477 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8703091 Tmem143 transmembrane protein 143 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1602477 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8703091 Tmem143 transmembrane protein 143 gene DOID:6171 uterine carcinosarcoma ISO RGD:1602477 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 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:11054 urinary bladder cancer ISO RGD:1346949 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8703103 Htr7 5-hydroxytryptamine receptor 7 gene DOID:1324 lung cancer ISO RGD:1346949 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 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:1909 melanoma ISO RGD:1346949 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 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:4362 cervical cancer ISO RGD:1346949 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 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:684 hepatocellular carcinoma ISO RGD:1346949 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 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:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1346949 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 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:0050939 uterine corpus endometrial carcinoma ISO RGD:1604314 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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: Prostate cancer PMID:23265383 8703124 Crtc3 CREB regulated transcription coactivator 3 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1604314 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 8703124 Crtc3 CREB regulated transcription coactivator 3 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1604314 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8703124 Crtc3 CREB regulated transcription coactivator 3 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1604314 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8703124 Crtc3 CREB regulated transcription coactivator 3 gene DOID:9119 acute myeloid leukemia ISO RGD:1604314 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8703142 Ubxn2b UBX domain protein 2B gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:2299012 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8703142 Ubxn2b UBX domain protein 2B gene DOID:1115 sarcoma ISO RGD:2299012 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8703142 Ubxn2b UBX domain protein 2B gene DOID:4362 cervical cancer ISO RGD:2299012 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8703142 Ubxn2b UBX domain protein 2B gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:2299012 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8703142 Ubxn2b UBX domain protein 2B gene DOID:6354 chronic lymphocytic leukemia/small lymphocytic lymphoma ISO RGD:2299012 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma 8703142 Ubxn2b UBX domain protein 2B gene DOID:684 hepatocellular carcinoma ISO RGD:2299012 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8703142 Ubxn2b UBX domain protein 2B gene DOID:9004083 Familial Pancreatic Carcinoma ISO RGD:2299012 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial pancreatic carcinoma 8703142 Ubxn2b UBX domain protein 2B gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:2299012 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8703142 Ubxn2b UBX domain protein 2B gene DOID:9008952 Breast Cancer, Familial ISO RGD:2299012 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8703164 Psmb6 proteasome 20S subunit beta 6 gene DOID:4947 cholangiocarcinoma ISO RGD:1349289 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 8703164 Psmb6 proteasome 20S subunit beta 6 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1349289 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 8703164 Psmb6 proteasome 20S subunit beta 6 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1349289 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8703164 Psmb6 proteasome 20S subunit beta 6 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1349289 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8703174 Cmtm4 CKLF like MARVEL transmembrane domain containing 4 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1320683 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8703174 Cmtm4 CKLF like MARVEL transmembrane domain containing 4 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1320683 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8703174 Cmtm4 CKLF like MARVEL transmembrane domain containing 4 gene DOID:10534 stomach cancer ISO RGD:1320683 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8703174 Cmtm4 CKLF like MARVEL transmembrane domain containing 4 gene DOID:1115 sarcoma ISO RGD:1320683 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8703174 Cmtm4 CKLF like MARVEL transmembrane domain containing 4 gene DOID:1324 lung cancer ISO RGD:1320683 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8703174 Cmtm4 CKLF like MARVEL transmembrane domain containing 4 gene DOID:1909 melanoma ISO RGD:1320683 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8703174 Cmtm4 CKLF like MARVEL transmembrane domain containing 4 gene DOID:234 colon adenocarcinoma ISO RGD:1320683 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8703174 Cmtm4 CKLF like MARVEL transmembrane domain containing 4 gene DOID:3275 thymoma ISO RGD:1320683 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8703174 Cmtm4 CKLF like MARVEL transmembrane domain containing 4 gene DOID:4362 cervical cancer ISO RGD:1320683 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8703174 Cmtm4 CKLF like MARVEL transmembrane domain containing 4 gene DOID:4947 cholangiocarcinoma ISO RGD:1320683 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 8703174 Cmtm4 CKLF like MARVEL transmembrane domain containing 4 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1320683 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8703174 Cmtm4 CKLF like MARVEL transmembrane domain containing 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1320683 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8703174 Cmtm4 CKLF like MARVEL transmembrane domain containing 4 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1320683 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8703174 Cmtm4 CKLF like MARVEL transmembrane domain containing 4 gene DOID:9119 acute myeloid leukemia ISO RGD:1320683 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8703174 Cmtm4 CKLF like MARVEL transmembrane domain containing 4 gene DOID:9256 colorectal cancer ISO RGD:1320683 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colorectal cancer 8703196 Lypd6b LY6/PLAUR domain containing 6B gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1602653 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8703196 Lypd6b LY6/PLAUR domain containing 6B gene DOID:10534 stomach cancer ISO RGD:1602653 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8703196 Lypd6b LY6/PLAUR domain containing 6B gene DOID:11054 urinary bladder cancer ISO RGD:1602653 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8703196 Lypd6b LY6/PLAUR domain containing 6B gene DOID:4362 cervical cancer ISO RGD:1602653 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8703196 Lypd6b LY6/PLAUR domain containing 6B gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1602653 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8703196 Lypd6b LY6/PLAUR domain containing 6B gene DOID:684 hepatocellular carcinoma ISO RGD:1602653 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8703196 Lypd6b LY6/PLAUR domain containing 6B gene DOID:9004083 Familial Pancreatic Carcinoma ISO RGD:1602653 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial pancreatic carcinoma 8703196 Lypd6b LY6/PLAUR domain containing 6B gene DOID:9008952 Breast Cancer, Familial ISO RGD:1602653 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8703196 Lypd6b LY6/PLAUR domain containing 6B gene DOID:9119 acute myeloid leukemia ISO RGD:1602653 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8703205 Ilrun inflammation and lipid regulator with UBA-like and NBR1-like domains gene DOID:1324 lung cancer ISO RGD:1601978 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8703205 Ilrun inflammation and lipid regulator with UBA-like and NBR1-like domains gene DOID:3275 thymoma ISO RGD:1601978 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8703205 Ilrun inflammation and lipid regulator with UBA-like and NBR1-like domains gene DOID:5041 esophageal cancer ISO RGD:1601978 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8703225 Alkbh1 alkB homolog 1, histone H2A dioxygenase gene DOID:3070 high grade glioma ISO RGD:1318033 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Glioma susceptibility 1 8703225 Alkbh1 alkB homolog 1, histone H2A dioxygenase gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1318033 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8703225 Alkbh1 alkB homolog 1, histone H2A dioxygenase gene DOID:9119 acute myeloid leukemia ISO RGD:1318033 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8703235 Sall1 spalt like transcription factor 1 gene DOID:0050328 congenital hypothyroidism ISO RGD:1320515 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Congenital hypothyroidism PMID:28492532 8703235 Sall1 spalt like transcription factor 1 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1320515 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8703235 Sall1 spalt like transcription factor 1 gene DOID:0050581 brachydactyly ISO RGD:1320515 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Brachydactyly PMID:28492532 8703235 Sall1 spalt like transcription factor 1 gene DOID:0050591 tooth agenesis ISO RGD:1320515 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Tooth agenesis 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 20260602 ClinVar ClinVar Annotator: match by term: REAR SYNDROME | ClinVar Annotator: match by term: Renal-ear-anal-radial syndrome | ClinVar Annotator: match by term: SALL1-related condition | ClinVar Annotator: match by term: TOWNES-BROCKS SYNDROME | ClinVar Annotator: match by term: TOWNES-BROCKS-BRANCHIOOTORENAL-LIKE SYNDROME | ClinVar Annotator: match by term: Townes syndrome | ClinVar Annotator: match by term: Townes-Brocks syndrome | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 PMID:10533063|PMID:10819639|PMID:11102974|PMID:12915476|PMID:14627694|PMID:14755477|PMID:16088922|PMID:16429401|PMID:16971658|PMID:17221874|PMID:17576681|PMID:18000979|PMID:19005989|PMID:19429598|PMID:20301618|PMID:22308078|PMID:23069192|PMID:23894113|PMID:24429398|PMID:25741868|PMID:25741886|PMID:26380986|PMID:26467025|PMID:26489027|PMID:27073431|PMID:27657687|PMID:28492532|PMID:29395072|PMID:29758562|PMID:30311386|PMID:30655312|PMID:32656166|PMID:34906515|PMID:36362878|PMID:36549658|PMID:40658219|PMID:9536098|PMID:9973281 8703235 Sall1 spalt like transcription factor 1 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1320515 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma PMID:25741868|PMID:28492532 8703235 Sall1 spalt like transcription factor 1 gene DOID:0060321 umbilical hernia ISO RGD:1320515 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Umbilical hernia PMID:28492532 8703235 Sall1 spalt like transcription factor 1 gene DOID:0060930 developmental dysplasia of the hip ISO RGD:1320515 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Developmental dysplasia of the hip PMID:28492532 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:10488 imperforate anus ISO RGD:1320515 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Imperforate anus PMID:10533063|PMID:12915476|PMID:14627694|PMID:16088922|PMID:19005989|PMID:23069192|PMID:25741868|PMID:28492532|PMID:30655312|PMID:9973281 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:11193 syndactyly ISO RGD:1320515 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Non-syndromic syndactyly PMID:28492532 8703235 Sall1 spalt like transcription factor 1 gene DOID:11502 mitral valve insufficiency ISO RGD:1320515 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Mitral regurgitation PMID:28492532 8703235 Sall1 spalt like transcription factor 1 gene DOID:12679 nephrocalcinosis ISO RGD:1320515 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nephrocalcinosis PMID:28492532 8703235 Sall1 spalt like transcription factor 1 gene DOID:13620 patent foramen ovale ISO RGD:1320515 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Patent foramen ovale PMID:28492532 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:1682 congenital heart disease ISO RGD:1320515 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:28492532 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:4667 kyphosis ISO RGD:1320515 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Kyphosis PMID:28492532 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:5746 ovarian serous cystadenocarcinoma ISO RGD:1320515 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma PMID:25741868|PMID:28492532 8703235 Sall1 spalt like transcription factor 1 gene DOID:630 genetic disease ISO RGD:1320515 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12915476|PMID:16088922|PMID:23069192|PMID:25741868|PMID:28492532|PMID:9973281 8703235 Sall1 spalt like transcription factor 1 gene DOID:6419 tetralogy of Fallot ISO RGD:1320515 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Tetralogy of Fallot PMID:25741868 8703235 Sall1 spalt like transcription factor 1 gene DOID:6420 pulmonary valve stenosis ISO RGD:1320515 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Pulmonic stenosis 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:9000101 Rectovaginal Fistula ISO RGD:1320515 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Rectovaginal fistula PMID:10533063|PMID:12915476|PMID:14627694|PMID:16088922|PMID:19005989|PMID:23069192|PMID:25741868|PMID:28492532|PMID:30655312|PMID:9973281 8703235 Sall1 spalt like transcription factor 1 gene DOID:9000629 Preauricular Tag, Isolated, Autosomal Dominant, 1 ISO RGD:1320515 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Preauricular skin tag PMID:10533063|PMID:12915476|PMID:14627694|PMID:16088922|PMID:19005989|PMID:23069192|PMID:25741868|PMID:28492532|PMID:30655312|PMID:9973281 8703235 Sall1 spalt like transcription factor 1 gene DOID:9001425 Triphalangeal Thumb ISO RGD:1320515 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Triphalangeal thumb PMID:10533063|PMID:12915476|PMID:14627694|PMID:16088922|PMID:19005989|PMID:23069192|PMID:25741868|PMID:28492532|PMID:30655312|PMID:9973281 8703235 Sall1 spalt like transcription factor 1 gene DOID:9001581 Constipation ISO RGD:1320515 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Constipation PMID:28492532 8703235 Sall1 spalt like transcription factor 1 gene DOID:9002202 Opsismodysplasia ISO RGD:1320515 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Delayed skeletal maturation PMID:28492532 8703235 Sall1 spalt like transcription factor 1 gene DOID:9002589 Bone Fractures ISO RGD:1320515 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Recurrent fractures PMID:28492532 8703235 Sall1 spalt like transcription factor 1 gene DOID:9003133 Hypertelorism ISO RGD:1320515 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:28492532 8703235 Sall1 spalt like transcription factor 1 gene DOID:9004452 Townes-Brocks-Branchiootorenal-Like Syndrome ISO RGD:1320515 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: TOWNES-BROCKS-BRANCHIOOTORENAL-LIKE SYNDROME 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:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1320515 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 PMID:25741868|PMID:28492532 8703235 Sall1 spalt like transcription factor 1 gene DOID:9007612 Arachnoid Cysts ISO RGD:1320515 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Arachnoid cyst PMID:28492532 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:9007661 Dwarfism ISO RGD:1320515 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Short stature PMID:28492532 8703235 Sall1 spalt like transcription factor 1 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:1320515 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:25741868 8703235 Sall1 spalt like transcription factor 1 gene DOID:9620 vesicoureteral reflux ISO RGD:1320515 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Vesicoureteral reflux PMID:28492532 8703235 Sall1 spalt like transcription factor 1 gene DOID:9650 pathologic nystagmus ISO RGD:1320515 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nystagmus PMID:28492532 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:0050387 nonpapillary renal cell carcinoma ISO RGD:1606706 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 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:0061123 visceral heterotaxy 14 ISO RGD:1606706 D RGD:7240710 20250205 OMIM 8703262 Ciroz ciliated left-right organizer protein containing ZP-N domains gene DOID:0061123 visceral heterotaxy 14 ISO RGD:1606706 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: HETEROTAXY, VISCERAL, 14, AUTOSOMAL | ClinVar Annotator: match by term: Heterotaxy, visceral, 14, autosomal PMID:25741868|PMID:34768622|PMID:39753129 8703262 Ciroz ciliated left-right organizer protein containing ZP-N domains gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1606706 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 8703262 Ciroz ciliated left-right organizer protein containing ZP-N domains gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1606706 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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 8703262 Ciroz ciliated left-right organizer protein containing ZP-N domains gene DOID:9565 dextrocardia ISO RGD:1617356 D RGD:9068941 20250403 MouseDO 8703281 Slc7a4 solute carrier family 7 member 4 gene DOID:1324 lung cancer ISO RGD:1314214 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8703281 Slc7a4 solute carrier family 7 member 4 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1314214 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8703281 Slc7a4 solute carrier family 7 member 4 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1314214 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8703293 Rgs7bp regulator of G protein signaling 7 binding protein gene DOID:1324 lung cancer ISO RGD:1604905 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8703293 Rgs7bp regulator of G protein signaling 7 binding protein gene DOID:4362 cervical cancer ISO RGD:1604905 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8703293 Rgs7bp regulator of G protein signaling 7 binding protein gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1604905 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8703293 Rgs7bp regulator of G protein signaling 7 binding protein gene DOID:9008952 Breast Cancer, Familial ISO RGD:1604905 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 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:0051064 left ventricular failure ISO RGD:1313391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27469509 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 20260602 ClinVar ClinVar Annotator: match by term: D-2-HYDROXYGLUTARIC ACIDURIA 2 | ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 | ClinVar Annotator: match by term: IDH2-related condition PMID:16199547|PMID:17576681|PMID:18414213|PMID:20171147|PMID:20847235|PMID:21647154|PMID:21889589|PMID:23558173|PMID:23949315|PMID:24049096|PMID:24589777|PMID:25398939|PMID:25741868|PMID:27591990|PMID:28492532|PMID:30975432|PMID:34641967|PMID:35101336|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:1059 intellectual disability ISO RGD:1313391 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:20171147|PMID:20847235|PMID:21647154|PMID:21889589|PMID:23558173|PMID:23949315|PMID:24049096|PMID:24589777|PMID:25398939|PMID:25741868|PMID:27591990|PMID:28492532|PMID:34641967|PMID:35101336 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:10907 microcephaly ISO RGD:1313391 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:20171147|PMID:20847235|PMID:21647154|PMID:21889589|PMID:23558173|PMID:23949315|PMID:24049096|PMID:24589777|PMID:25398939|PMID:25741868|PMID:27591990|PMID:28492532|PMID:34641967|PMID:35101336 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:10908 hydrocephalus ISO RGD:1313391 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Hydrocephalus PMID:20171147|PMID:20847235|PMID:21647154|PMID:21889589|PMID:23558173|PMID:23949315|PMID:24049096|PMID:24589777|PMID:25398939|PMID:25741868|PMID:27591990|PMID:28492532|PMID:34641967|PMID:35101336 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:11111 hydronephrosis ISO RGD:1313391 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Hydronephrosis PMID:20171147|PMID:20847235|PMID:21647154|PMID:21889589|PMID:23558173|PMID:23949315|PMID:24049096|PMID:24589777|PMID:25398939|PMID:25741868|PMID:27591990|PMID:28492532|PMID:34641967|PMID:35101336 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:1115 sarcoma ISO RGD:1313391 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 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:11832 visual epilepsy ISO RGD:1313391 D RGD:9068941 20260108 CTD CTD Direct Evidence: marker/mechanism PMID:27469509 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:14566 disease of cellular proliferation ISO RGD:1313391 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Neoplasm PMID:19228619|PMID:20171147|PMID:20847235|PMID:21326614|PMID:21647154|PMID:21889589|PMID:22309944|PMID:23558173|PMID:23949315|PMID:24049096|PMID:24589777|PMID:25398939|PMID:25741868|PMID:27591990|PMID:28492532|PMID:34641967|PMID:35101336|PMID:39434542 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:1826 epilepsy ISO RGD:1313391 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Seizure PMID:20171147|PMID:20847235|PMID:21647154|PMID:21889589|PMID:23558173|PMID:23949315|PMID:24049096|PMID:24589777|PMID:25398939|PMID:25741868|PMID:27591990|PMID:28492532|PMID:34641967|PMID:35101336 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: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:4362 cervical cancer ISO RGD:1313391 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:4624 Ollier disease ISO RGD:1313391 D RGD:9068941 20260521 CTD CTD Direct Evidence: marker/mechanism PMID:22057234|PMID:22057236 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:5746 ovarian serous cystadenocarcinoma ISO RGD:1313391 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:6171 uterine carcinosarcoma ISO RGD:1313391 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:630 genetic disease ISO RGD:1313391 D RGD:8554872 20260616 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:25398939|PMID:25741868|PMID:27591990|PMID:28492532|PMID:34641967|PMID:35101336 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:674 cleft palate ISO RGD:1313391 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cleft palate 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:700 mitochondrial metabolism disease ISO RGD:1313391 D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: mitochondrial disease PMID:25741868 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:9001999 Agenesis of Corpus Callosum ISO RGD:1313391 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Corpus callosum, agenesis of PMID:20171147|PMID:20847235|PMID:21647154|PMID:21889589|PMID:23558173|PMID:23949315|PMID:24049096|PMID:24589777|PMID:25398939|PMID:25741868|PMID:27591990|PMID:28492532|PMID:34641967|PMID:35101336 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:9007428 Muscle Spasticity ISO RGD:1313391 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Spasticity PMID:20171147|PMID:20847235|PMID:21647154|PMID:21889589|PMID:23558173|PMID:23949315|PMID:24049096|PMID:24589777|PMID:25398939|PMID:25741868|PMID:27591990|PMID:28492532|PMID:34641967|PMID:35101336 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:9008952 Breast Cancer, Familial ISO RGD:1313391 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 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:9408 acute myocardial infarction ISO RGD:1313391 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myocardial infarction PMID:19228619|PMID:19554337|PMID:20171147|PMID:21326614|PMID:22072542|PMID:25043045|PMID:26061751|PMID:27993330|PMID:34185076|PMID:35101336 8703320 Srsf4 serine and arginine rich splicing factor 4 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1350526 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8703320 Srsf4 serine and arginine rich splicing factor 4 gene DOID:10534 stomach cancer ISO RGD:1350526 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8703320 Srsf4 serine and arginine rich splicing factor 4 gene DOID:1115 sarcoma ISO RGD:1350526 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8703320 Srsf4 serine and arginine rich splicing factor 4 gene DOID:1324 lung cancer ISO RGD:1350526 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 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:3275 thymoma ISO RGD:1350526 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8703320 Srsf4 serine and arginine rich splicing factor 4 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1350526 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma 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:5746 ovarian serous cystadenocarcinoma ISO RGD:1350526 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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:0050387 nonpapillary renal cell carcinoma ISO RGD:1321425 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8703342 Haus2 HAUS augmin like complex subunit 2 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1321425 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8703342 Haus2 HAUS augmin like complex subunit 2 gene DOID:1909 melanoma ISO RGD:1321425 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8703342 Haus2 HAUS augmin like complex subunit 2 gene DOID:5041 esophageal cancer ISO RGD:1321425 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8703342 Haus2 HAUS augmin like complex subunit 2 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1321425 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8703342 Haus2 HAUS augmin like complex subunit 2 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1321425 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8703342 Haus2 HAUS augmin like complex subunit 2 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1321425 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8703342 Haus2 HAUS augmin like complex subunit 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1321425 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8703413 Acad10 acyl-CoA dehydrogenase family member 10 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1346668 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8703413 Acad10 acyl-CoA dehydrogenase family member 10 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1346668 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8703413 Acad10 acyl-CoA dehydrogenase family member 10 gene DOID:11054 urinary bladder cancer ISO RGD:1346668 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8703413 Acad10 acyl-CoA dehydrogenase family member 10 gene DOID:1115 sarcoma ISO RGD:1346668 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8703413 Acad10 acyl-CoA dehydrogenase family member 10 gene DOID:1324 lung cancer ISO RGD:1346668 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8703413 Acad10 acyl-CoA dehydrogenase family member 10 gene DOID:1909 melanoma ISO RGD:1346668 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8703413 Acad10 acyl-CoA dehydrogenase family member 10 gene DOID:234 colon adenocarcinoma ISO RGD:1346668 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8703413 Acad10 acyl-CoA dehydrogenase family member 10 gene DOID:3275 thymoma ISO RGD:1346668 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8703413 Acad10 acyl-CoA dehydrogenase family member 10 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1346668 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma 8703413 Acad10 acyl-CoA dehydrogenase family member 10 gene DOID:4362 cervical cancer ISO RGD:1346668 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8703413 Acad10 acyl-CoA dehydrogenase family member 10 gene DOID:4947 cholangiocarcinoma ISO RGD:1346668 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 8703413 Acad10 acyl-CoA dehydrogenase family member 10 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1346668 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 8703413 Acad10 acyl-CoA dehydrogenase family member 10 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1346668 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8703413 Acad10 acyl-CoA dehydrogenase family member 10 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1346668 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 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 20260519 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IV | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 PMID:10802647|PMID:10856930|PMID:11283303|PMID:11354824|PMID:12668758|PMID:12925573|PMID:16162938|PMID:16199547|PMID:17576681|PMID:19587293|PMID:20410104|PMID:20981092|PMID:25640679|PMID:25741868|PMID:26467025|PMID:27697855|PMID:28190646|PMID:28492532|PMID:32376792|PMID:32657593|PMID:8190646|PMID:9536098 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 20260602 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4B1 | 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:17576681|PMID:20301641|PMID:20981092|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31070812|PMID:31680794|PMID:32214227|PMID:32376792|PMID:9536098 8703441 Mtmr2 myotubularin related protein 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1323545 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10802647|PMID:11335693|PMID:11354824|PMID:12045210|PMID:12398840|PMID:12837694|PMID:14530412|PMID:15469949|PMID:15505184|PMID:17973976|PMID:20981092|PMID:23781969|PMID:25025039|PMID:25231362|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32376792 8703441 Mtmr2 myotubularin related protein 2 gene DOID:11054 urinary bladder cancer ISO RGD:1323545 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8703441 Mtmr2 myotubularin related protein 2 gene DOID:1115 sarcoma ISO RGD:1323545 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8703441 Mtmr2 myotubularin related protein 2 gene DOID:1909 melanoma ISO RGD:1323545 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma PMID:25741868|PMID:28492532 8703441 Mtmr2 myotubularin related protein 2 gene DOID:234 colon adenocarcinoma ISO RGD:1323545 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma PMID:25741868|PMID:28492532 8703441 Mtmr2 myotubularin related protein 2 gene DOID:3275 thymoma ISO RGD:1323545 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 8703441 Mtmr2 myotubularin related protein 2 gene DOID:4362 cervical cancer ISO RGD:1323545 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8703441 Mtmr2 myotubularin related protein 2 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1323545 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8703441 Mtmr2 myotubularin related protein 2 gene DOID:6171 uterine carcinosarcoma ISO RGD:1323545 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8703441 Mtmr2 myotubularin related protein 2 gene DOID:630 genetic disease ISO RGD:1323545 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12668758|PMID:14530412|PMID:15998640|PMID:17576681|PMID:20410104|PMID:25741868|PMID:26467025|PMID:27697855|PMID:28492532|PMID:31070812|PMID:32376792|PMID:9536098 8703441 Mtmr2 myotubularin related protein 2 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1323545 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8703441 Mtmr2 myotubularin related protein 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1323545 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0050336 hypophosphatemia ISO RGD:1323005 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hypophosphatemia PMID:25741868|PMID:28492532 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:0050939 uterine corpus endometrial carcinoma ISO RGD:1323005 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma PMID:25741868|PMID:28492532 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:8554872 20260519 ClinVar ClinVar Annotator: match by term: PREMATURE OVARIAN FAILURE 11 | ClinVar Annotator: match by term: Premature ovarian failure 11 PMID:10447254|PMID:14639525|PMID:18414213|PMID:18628313|PMID:19894250|PMID:21228398|PMID:25326635|PMID:25741868|PMID:25820262|PMID:26218421|PMID:27004399|PMID:27186691|PMID:27356891|PMID:28440418|PMID:28492532|PMID:29572252|PMID:32557569|PMID:9443879 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0080868 primary ovarian insufficiency 11 susceptibility ISO RGD:1323005 D RGD:7240710 20260624 OMIM 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0080908 Cockayne syndrome B ISO RGD:1323005 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: COCKAYNE SYNDROME B | ClinVar Annotator: match by term: Cockayne Syndrome, Type II | ClinVar Annotator: match by term: Cockayne syndrome B | ClinVar Annotator: match by term: Cockayne syndrome, type B PMID:10196384|PMID:14639525|PMID:15486090|PMID:17576681|PMID:18414213|PMID:18628313|PMID:19894250|PMID:20122405|PMID:21143350|PMID:21228398|PMID:25251875|PMID:25741868|PMID:25820262|PMID:26206375|PMID:27004399|PMID:28170084|PMID:28440418|PMID:28492532|PMID:29203878|PMID:29572252|PMID:29915382|PMID:30111349|PMID:31501894|PMID:32557569|PMID:9443879|PMID:9536098 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0080908 Cockayne syndrome B susceptibility ISO RGD:1323005 D RGD:7240710 20260624 OMIM 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0080911 cerebrooculofacioskeletal syndrome 1 ISO RGD:1323005 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: CEREBROOCULOFACIOSKELETAL SYNDROME 1 | ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 1 PMID:10447254|PMID:11809892|PMID:1339317|PMID:14639525|PMID:16199547|PMID:17576681|PMID:18414213|PMID:18628313|PMID:19894250|PMID:21228398|PMID:24033266|PMID:25326635|PMID:25356239|PMID:25463447|PMID:25741868|PMID:25820262|PMID:26620705|PMID:27004399|PMID:27356891|PMID:28440418|PMID:28492532|PMID:29572252|PMID:31130284|PMID:32453336|PMID:32496904|PMID:32504035|PMID:32557569|PMID:32853555|PMID:32868804|PMID:33904453|PMID:34005834|PMID:34853308|PMID:36099812|PMID:36344539|PMID:887325|PMID:9150142|PMID:9443879|PMID:9536098 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0080911 cerebrooculofacioskeletal syndrome 1 susceptibility ISO RGD:1323005 D RGD:7240710 20260624 OMIM 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:8554872 20260519 ClinVar ClinVar Annotator: match by term: Age related macular degeneration 5 PMID:10447254|PMID:14639525|PMID:18414213|PMID:18628313|PMID:19894250|PMID:21228398|PMID:25326635|PMID:25741868|PMID:25820262|PMID:27004399|PMID:27356891|PMID:28440418|PMID:28492532|PMID:29572252|PMID:32557569|PMID:36099812|PMID:9443879 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0110028 age related macular degeneration 5 susceptibility ISO RGD:1323005 D RGD:7240710 20260624 OMIM 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0112158 De Sanctis-Cacchione syndrome ISO RGD:1323005 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: DE SANCTIS-CACCHIONE SYNDROME PMID:10447254|PMID:14639525|PMID:18414213|PMID:18628313|PMID:19894250|PMID:21228398|PMID:25326635|PMID:25356239|PMID:25741868|PMID:25820262|PMID:27004399|PMID:27356891|PMID:28440418|PMID:28492532|PMID:29572252|PMID:32557569|PMID:9443879 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0112158 De Sanctis-Cacchione syndrome susceptibility ISO RGD:1323005 D RGD:7240710 20260624 OMIM 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:10003 sensorineural hearing loss ISO RGD:1323005 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868|PMID:28492532 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:10579 leukodystrophy ISO RGD:1323005 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Leukodystrophy PMID:18628313|PMID:25741868|PMID:28440418|PMID:28492532|PMID:29572252 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:1059 intellectual disability ISO RGD:1323005 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability PMID:25741868|PMID:28492532 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:10609 rickets ISO RGD:1323005 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Rickets PMID:25741868|PMID:28492532 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:11054 urinary bladder cancer ISO RGD:1323005 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder PMID:25741868|PMID:28492532 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:11199 hypoparathyroidism ISO RGD:1323005 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism PMID:25741868|PMID:28492532 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 20250729 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:14639525|PMID:16199547|PMID:16754848|PMID:17854076|PMID:18414213|PMID:18628313|PMID:19894250|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 ISO RGD:1323005 D RGD:8554872 20260519 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:10447254|PMID:14639525|PMID:18414213|PMID:18628313|PMID:19894250|PMID:21228398|PMID:25326635|PMID:25741868|PMID:25820262|PMID:27004399|PMID:27356891|PMID:28440418|PMID:28492532|PMID:29572252|PMID:32557569|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:7240710 20260624 OMIM 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:13580 cholestasis ISO RGD:1323005 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholestasis PMID:18628313|PMID:28492532|PMID:9443879 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:17 musculoskeletal system disease ISO RGD:1323005 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Abnormality of the musculoskeletal system PMID:18628313|PMID:19894250|PMID:25741868|PMID:28492532|PMID:29572252 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:1826 epilepsy ISO RGD:1323005 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:1909 melanoma ISO RGD:1323005 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma PMID:25741868|PMID:28492532 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:234 colon adenocarcinoma ISO RGD:1323005 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma PMID:25741868|PMID:28492532 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:2394 ovarian cancer ISO RGD:1323005 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532 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 20260519 ClinVar ClinVar Annotator: match by term: Cockayne syndrome PMID:18414213|PMID:18628313|PMID:19894250|PMID:21228398|PMID:25326635|PMID:25356239|PMID:25741868|PMID:27356891|PMID:28492532|PMID:29572252|PMID:9443879 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:3275 thymoma ISO RGD:1323005 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma PMID:28492532 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 20260519 ClinVar ClinVar Annotator: match by term: Lung carcinoma PMID:18414213|PMID:25741868|PMID:28492532 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:4362 cervical cancer ISO RGD:1323005 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer PMID:25741868|PMID:28492532 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:4448 macular degeneration ISO RGD:1323005 D RGD:9068941 20260604 CTD CTD Direct Evidence: marker/mechanism PMID:16754848 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:4467 clear cell renal cell carcinoma ISO RGD:1323005 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney PMID:19894250|PMID:25741868|PMID:28492532|PMID:29572252 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:4947 cholangiocarcinoma ISO RGD:1323005 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:5041 esophageal cancer ISO RGD:1323005 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus PMID:25741868|PMID:28492532 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: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1323005 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma PMID:25741868|PMID:28492532 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:6039 uveal melanoma ISO RGD:1323005 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uveal melanoma PMID:25741868|PMID:28492532 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:6171 uterine carcinosarcoma ISO RGD:1323005 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma PMID:25741868|PMID:28492532 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:630 genetic disease ISO RGD:1323005 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:18628313|PMID:19894250|PMID:21228398|PMID:25326635|PMID:25356239|PMID:25741868|PMID:27356891|PMID:28440418|PMID:28492532|PMID:29572252|PMID:36099812|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:784 chronic kidney disease ISO RGD:1323005 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:25741868|PMID:28492532 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:83 cataract ISO RGD:1323005 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cataract PMID:18628313|PMID:28492532|PMID:9443879 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9000343 Vision Disorders ISO RGD:1323005 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Visual impairment PMID:19894250 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:9002453 Cafe-au-Lait Spots ISO RGD:1323005 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cafe-au-lait spot PMID:18628313|PMID:25356239|PMID:25741868|PMID:28492532|PMID:29572252 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: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:9004866 Ataxia ISO RGD:1323005 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ataxia PMID:18628313|PMID:25741868|PMID:28440418|PMID:28492532|PMID:29572252 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9004998 Kyphoscoliosis ISO RGD:1323005 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Kyphoscoliosis PMID:25741868|PMID:28492532 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:9005369 Hepatomegaly ISO RGD:1323005 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatomegaly PMID:25741868 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9005616 Micrognathism ISO RGD:1323005 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Micrognathia PMID:18628313|PMID:25356239|PMID:25741868|PMID:28492532|PMID:29572252 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9006065 Arthralgia ISO RGD:1323005 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Arthralgia PMID:25741868|PMID:28492532 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:8554872 20260519 ClinVar ClinVar Annotator: match by term: UV-SENSITIVE SYNDROME 1 | ClinVar Annotator: match by term: UV-sensitive syndrome 1 PMID:10447254|PMID:14639525|PMID:18414213|PMID:18628313|PMID:19894250|PMID:21228398|PMID:25326635|PMID:25741868|PMID:25820262|PMID:27004399|PMID:27356891|PMID:28440418|PMID:28492532|PMID:29572252|PMID:32557569|PMID:9443879 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9006274 UV-Sensitive Syndrome 1 susceptibility ISO RGD:1323005 D RGD:7240710 20260624 OMIM 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9006743 Spasm ISO RGD:1323005 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Muscle spasm PMID:25741868|PMID:28492532 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9007661 Dwarfism ISO RGD:1323005 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Disproportionate short stature | ClinVar Annotator: match by term: Short stature PMID:18628313|PMID:25356239|PMID:25741868|PMID:28440418|PMID:28492532|PMID:29572252 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9008086 Developmental Disabilities ISO RGD:1323005 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 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:9008952 Breast Cancer, Familial ISO RGD:1323005 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868|PMID:28492532 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9009050 Hypocalcemia ISO RGD:1323005 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hypocalcemia PMID:25741868|PMID:28492532 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9119 acute myeloid leukemia ISO RGD:1323005 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:25741868|PMID:28492532 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 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9993 hypoglycemia ISO RGD:1323005 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hypoglycemia PMID:25741868|PMID:28492532 8703493 Eps15l1 epidermal growth factor receptor pathway substrate 15 like 1 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1345399 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8703493 Eps15l1 epidermal growth factor receptor pathway substrate 15 like 1 gene DOID:10534 stomach cancer ISO RGD:1345399 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8703493 Eps15l1 epidermal growth factor receptor pathway substrate 15 like 1 gene DOID:11054 urinary bladder cancer ISO RGD:1345399 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8703493 Eps15l1 epidermal growth factor receptor pathway substrate 15 like 1 gene DOID:1115 sarcoma ISO RGD:1345399 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8703493 Eps15l1 epidermal growth factor receptor pathway substrate 15 like 1 gene DOID:1324 lung cancer ISO RGD:1345399 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8703493 Eps15l1 epidermal growth factor receptor pathway substrate 15 like 1 gene DOID:1909 melanoma ISO RGD:1345399 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8703493 Eps15l1 epidermal growth factor receptor pathway substrate 15 like 1 gene DOID:234 colon adenocarcinoma ISO RGD:1345399 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8703493 Eps15l1 epidermal growth factor receptor pathway substrate 15 like 1 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1345399 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma 8703493 Eps15l1 epidermal growth factor receptor pathway substrate 15 like 1 gene DOID:4362 cervical cancer ISO RGD:1345399 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8703493 Eps15l1 epidermal growth factor receptor pathway substrate 15 like 1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1345399 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8703493 Eps15l1 epidermal growth factor receptor pathway substrate 15 like 1 gene DOID:6171 uterine carcinosarcoma ISO RGD:1345399 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8703493 Eps15l1 epidermal growth factor receptor pathway substrate 15 like 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1345399 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8703493 Eps15l1 epidermal growth factor receptor pathway substrate 15 like 1 gene DOID:9003566 Mesothelioma ISO RGD:1345399 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Mesothelioma 8703493 Eps15l1 epidermal growth factor receptor pathway substrate 15 like 1 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1345399 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8703493 Eps15l1 epidermal growth factor receptor pathway substrate 15 like 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1345399 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8703523 Angel1 angel homolog 1 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1314740 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8703523 Angel1 angel homolog 1 gene DOID:1324 lung cancer ISO RGD:1314740 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8703523 Angel1 angel homolog 1 gene DOID:4362 cervical cancer ISO RGD:1314740 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8703523 Angel1 angel homolog 1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1314740 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8703523 Angel1 angel homolog 1 gene DOID:6039 uveal melanoma ISO RGD:1314740 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uveal melanoma 8703555 Syf2 SYF2 pre-mRNA splicing factor gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1603674 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8703555 Syf2 SYF2 pre-mRNA splicing factor gene DOID:11054 urinary bladder cancer ISO RGD:1603674 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8703555 Syf2 SYF2 pre-mRNA splicing factor gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1603674 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 8703555 Syf2 SYF2 pre-mRNA splicing factor gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1603674 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8703555 Syf2 SYF2 pre-mRNA splicing factor gene DOID:684 hepatocellular carcinoma ISO RGD:1603674 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8703555 Syf2 SYF2 pre-mRNA splicing factor gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1603674 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8703555 Syf2 SYF2 pre-mRNA splicing factor gene DOID:9119 acute myeloid leukemia ISO RGD:1603674 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 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:0050939 uterine corpus endometrial carcinoma ISO RGD:1348624 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8703567 Armc6 armadillo repeat containing 6 gene DOID:1115 sarcoma ISO RGD:1348624 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8703567 Armc6 armadillo repeat containing 6 gene DOID:1909 melanoma ISO RGD:1348624 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8703567 Armc6 armadillo repeat containing 6 gene DOID:3275 thymoma ISO RGD:1348624 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8703567 Armc6 armadillo repeat containing 6 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1348624 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 8703567 Armc6 armadillo repeat containing 6 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1348624 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8703567 Armc6 armadillo repeat containing 6 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1348624 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8703585 Aftph aftiphilin gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1606558 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8703585 Aftph aftiphilin gene DOID:10534 stomach cancer ISO RGD:1606558 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8703585 Aftph aftiphilin gene DOID:1115 sarcoma ISO RGD:1606558 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8703585 Aftph aftiphilin gene DOID:1324 lung cancer ISO RGD:1606558 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8703585 Aftph aftiphilin gene DOID:3275 thymoma ISO RGD:1606558 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8703585 Aftph aftiphilin gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1606558 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 8703585 Aftph aftiphilin gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1606558 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8703585 Aftph aftiphilin gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1606558 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8703585 Aftph aftiphilin gene DOID:9008952 Breast Cancer, Familial ISO RGD:1606558 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8703585 Aftph aftiphilin gene DOID:9119 acute myeloid leukemia ISO RGD:1606558 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 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:11612 polycystic ovary syndrome ISO RGD:1323788 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8703620 Plin5 perilipin 5 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:2881444 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8703620 Plin5 perilipin 5 gene DOID:11054 urinary bladder cancer ISO RGD:2881444 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8703620 Plin5 perilipin 5 gene DOID:1115 sarcoma ISO RGD:2881444 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8703620 Plin5 perilipin 5 gene DOID:4362 cervical cancer ISO RGD:2881444 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8703620 Plin5 perilipin 5 gene DOID:4947 cholangiocarcinoma ISO RGD:2881444 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 8703620 Plin5 perilipin 5 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:2881444 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8703620 Plin5 perilipin 5 gene DOID:9008952 Breast Cancer, Familial ISO RGD:2881444 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8703642 Hexd hexosaminidase D gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1602417 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8703642 Hexd hexosaminidase D gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1602417 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8703642 Hexd hexosaminidase D gene DOID:10534 stomach cancer ISO RGD:1602417 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8703642 Hexd hexosaminidase D gene DOID:11054 urinary bladder cancer ISO RGD:1602417 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8703642 Hexd hexosaminidase D gene DOID:1324 lung cancer ISO RGD:1602417 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8703642 Hexd hexosaminidase D gene DOID:1909 melanoma ISO RGD:1602417 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8703642 Hexd hexosaminidase D gene DOID:3275 thymoma ISO RGD:1602417 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8703642 Hexd hexosaminidase D gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1602417 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8703642 Hexd hexosaminidase D gene DOID:684 hepatocellular carcinoma ISO RGD:1602417 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8703642 Hexd hexosaminidase D gene DOID:9005024 Hereditary Adrenocortical Carcinoma ISO RGD:1602417 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary 8703642 Hexd hexosaminidase D gene DOID:9008952 Breast Cancer, Familial ISO RGD:1602417 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8703642 Hexd hexosaminidase D gene DOID:9119 acute myeloid leukemia ISO RGD:1602417 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8703664 Ckm creatine kinase, M-type gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:737472 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8703664 Ckm creatine kinase, M-type gene DOID:0051064 left ventricular failure ISO RGD:737472 D RGD:9068941 20200609 RGD PMID:12039490|REF_RGD_ID:1598441 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:5041 esophageal cancer ISO RGD:737472 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8703664 Ckm creatine kinase, M-type gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:737472 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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:6171 uterine carcinosarcoma ISO RGD:737472 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 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: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 8703664 Ckm creatine kinase, M-type gene DOID:9005539 Familial Prostate Cancer ISO RGD:737472 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial prostate cancer 8703676 Hcfc2 host cell factor C2 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1316555 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8703676 Hcfc2 host cell factor C2 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1316555 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8703676 Hcfc2 host cell factor C2 gene DOID:10534 stomach cancer ISO RGD:1316555 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8703676 Hcfc2 host cell factor C2 gene DOID:11054 urinary bladder cancer ISO RGD:1316555 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8703676 Hcfc2 host cell factor C2 gene DOID:5041 esophageal cancer ISO RGD:1316555 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8703676 Hcfc2 host cell factor C2 gene DOID:6171 uterine carcinosarcoma ISO RGD:1316555 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8703676 Hcfc2 host cell factor C2 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1316555 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8703676 Hcfc2 host cell factor C2 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1316555 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8703676 Hcfc2 host cell factor C2 gene DOID:9119 acute myeloid leukemia ISO RGD:1316555 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 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:0050336 hypophosphatemia ISO RGD:731746 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Hypophosphatemia PMID:11704759|PMID:11992261|PMID:12161469|PMID:12717436|PMID:12960218|PMID:14644997|PMID:14974085|PMID:14982869|PMID:15001945|PMID:15385933|PMID:15710330|PMID:15928039|PMID:15956085|PMID:16399795|PMID:17339163|PMID:17972951|PMID:18678287|PMID:19020799|PMID:19047918|PMID:19179468|PMID:20301303|PMID:21321969|PMID:21533187|PMID:21784453|PMID:22465605|PMID:24033266|PMID:24803665|PMID:24935154|PMID:25097206|PMID:25395418|PMID:25741868|PMID:26918529|PMID:27069254|PMID:27276561|PMID:28492532|PMID:29493581|PMID:30355600|PMID:30541462|PMID:32561839 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:0050432 Asperger syndrome ISO RGD:731746 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Asperger syndrome PMID:25741868 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:731746 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Periventricular nodular heterotopia PMID:11992261|PMID:14644997|PMID:15121796|PMID:15385933|PMID:15710330|PMID:15928039|PMID:16369799|PMID:16523510|PMID:16987887|PMID:17339163|PMID:17875892|PMID:17972951|PMID:18241070|PMID:18505544|PMID:19047918|PMID:19179468|PMID:19768645|PMID:20301557|PMID:21533187|PMID:22190897|PMID:24033266|PMID:24451042|PMID:24803665|PMID:24891296|PMID:24935154|PMID:25097206|PMID:25395418|PMID:25544017|PMID:25741868|PMID:26918529|PMID:27069254|PMID:27276561|PMID:27562378|PMID:27993330|PMID:28492532|PMID:28912153|PMID:28966033|PMID:29356064|PMID:29493581|PMID:29693080|PMID:29763623|PMID:30417923|PMID:30732632|PMID:31219622|PMID:31370276|PMID:32561839|PMID:32746448|PMID:33318624|PMID:34008892|PMID:35697228|PMID:35979676|PMID:36567979|PMID:39669259|PMID:40225944 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 20260616 ClinVar ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12960218|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14982869|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15240615|PMID:15248152|PMID:15385933|PMID:15520399|PMID:15539800|PMID:15604238|PMID:15689434|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15928039|PMID:15948193|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16053901|PMID:16115145|PMID:16124853|PMID:16166557|PMID:16263833|PMID:16338218|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16498234|PMID:16518851|PMID:16523510|PMID:16557282|PMID:16638574|PMID:16643459|PMID:16804314|PMID:16830086|PMID:16892325|PMID:16987887|PMID:16990350|PMID:17020470|PMID:17177198|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17497712|PMID:17546245|PMID:17576681|PMID:17641779|PMID:17661820|PMID:17875892|PMID:17910045|PMID:17927788|PMID:17935252|PMID:17942397|PMID:17972951|PMID:18080325|PMID:18241070|PMID:18331608|PMID:18372317|PMID:18373317|PMID:18454468|PMID:18470943|PMID:18505544|PMID:18559669|PMID:18562489|PMID:18678287|PMID:18701506|PMID:18759865|PMID:18849586|PMID:18854871|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19063751|PMID:19077116|PMID:19120036|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19260062|PMID:19621452|PMID:19651601|PMID:19706403|PMID:19768645|PMID:19795160|PMID:19798502|PMID:19825837|PMID:19864201|PMID:20030748|PMID:20186801|PMID:20237506|PMID:20301303|PMID:20301557|PMID:20301772|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:20543023|PMID:20718194|PMID:20883402|PMID:20954246|PMID:21204800|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21407260|PMID:21533187|PMID:21590266|PMID:21901340|PMID:21910245|PMID:21934682|PMID:22190897|PMID:22411627|PMID:22420426|PMID:22465605|PMID:22551697|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22848035|PMID:22923420|PMID:23317994|PMID:23321623|PMID:23446178|PMID:23457302|PMID:23584145|PMID:23624134|PMID:23726368|PMID:23756559|PMID:23771920|PMID:23813970|PMID:23817572|PMID:23825065|PMID:23832011|PMID:23957426|PMID:23996481|PMID:24033266|PMID:24037001|PMID:24039098|PMID:24183200|PMID:24219368|PMID:24338706|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24767283|PMID:24775816|PMID:24803665|PMID:24891296|PMID:24935154|PMID:25097206|PMID:25156961|PMID:25331952|PMID:25337068|PMID:25395418|PMID:25425531|PMID:25500235|PMID:25544017|PMID:25595571|PMID:25612910|PMID:25695693|PMID:25741868|PMID:25741869|PMID:25862627|PMID:25884655|PMID:25914815|PMID:25917897|PMID:26084119|PMID:26242988|PMID:26286251|PMID:26337637|PMID:26424407|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26633542|PMID:26783207|PMID:26817465|PMID:26822237|PMID:26918529|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27153395|PMID:27168466|PMID:27238887|PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27626068|PMID:27659786|PMID:27876779|PMID:27993330|PMID:28051113|PMID:28074573|PMID:28098151|PMID:28328117|PMID:28483241|PMID:28492532|PMID:28650561|PMID:28681392|PMID:28748642|PMID:28911804|PMID:28912153|PMID:28921562|PMID:28966033|PMID:28991257|PMID:29057136|PMID:29212898|PMID:29300386|PMID:29346770|PMID:29356064|PMID:29493581|PMID:29625052|PMID:29693080|PMID:29758562|PMID:29763623|PMID:29907801|PMID:29988639|PMID:30025578|PMID:30050098|PMID:30055033|PMID:30266093|PMID:30311386|PMID:30325180|PMID:30417923|PMID:30455982|PMID:30515541|PMID:30541462|PMID:30577886|PMID:30602027|PMID:30692697|PMID:30732632|PMID:30784236|PMID:30868567|PMID:30896080|PMID:31219622|PMID:31250151|PMID:31263281|PMID:31324109|PMID:31370276|PMID:31560489|PMID:32164556|PMID:32164789|PMID:32233106|PMID:32371413|PMID:32561839|PMID:32565546|PMID:32627857|PMID:32719394|PMID:32737134|PMID:32746448|PMID:32794475|PMID:32859279|PMID:32901917|PMID:33300679|PMID:33318624|PMID:33568805 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:731746 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia PMID:33726816|PMID:33794220|PMID:33811550|PMID:33850299|PMID:34006472|PMID:34008892|PMID:34143244|PMID:34308104|PMID:34358384|PMID:34782754|PMID:34850017|PMID:34988410|PMID:35101336|PMID:35325944|PMID:35396703|PMID:35697228|PMID:35979676|PMID:36304179|PMID:36349709|PMID:36496429|PMID:36567979|PMID:37923938|PMID:38374194|PMID:38413718|PMID:38540404|PMID:38572385|PMID:39202410|PMID:39392019|PMID:39596579|PMID:39669259|PMID:40225944|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:0050651 atrioventricular septal defect ISO RGD:731746 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Atrioventricular canal defect PMID:11704759|PMID:11992261|PMID:12161469|PMID:12325025|PMID:12634870|PMID:12960218|PMID:14644997|PMID:15001945|PMID:15240615|PMID:15834506|PMID:15842656|PMID:15928039|PMID:16358218|PMID:16498234|PMID:17020470|PMID:17497712|PMID:18470943|PMID:19020799|PMID:19077116|PMID:19621452|PMID:20112233|PMID:20301303|PMID:21106241|PMID:21407260|PMID:21533187|PMID:21784453|PMID:21901340|PMID:22420426|PMID:22465605|PMID:22681964|PMID:22711529|PMID:23321623|PMID:23624134|PMID:23771920|PMID:23817572|PMID:24033266|PMID:24037001|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24451042|PMID:24458522|PMID:24803665|PMID:24935154|PMID:25097206|PMID:25156961|PMID:25253770|PMID:25337068|PMID:25741868|PMID:25741869|PMID:25862627|PMID:26084119|PMID:26242988|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26817465|PMID:27030275|PMID:27038324|PMID:27104176|PMID:27521173|PMID:27993330|PMID:28328117|PMID:28492532|PMID:28912153|PMID:29493581|PMID:29907801|PMID:30055033|PMID:30311386|PMID:30417923|PMID:30692697|PMID:30732632|PMID:31219622|PMID:31560489|PMID:32164556|PMID:32371413|PMID:32668031|PMID:32901917|PMID:34008892|PMID:34303558 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0050700 cardiomyopathy ISO RGD:731746 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:11704759|PMID:11992261|PMID:12161469|PMID:12717436|PMID:14644997|PMID:14676626|PMID:15001945|PMID:15009076|PMID:15240615|PMID:15385933|PMID:15539800|PMID:15723289|PMID:15725481|PMID:15834506|PMID:15842656|PMID:15928039|PMID:15948193|PMID:15987685|PMID:16115145|PMID:16358218|PMID:16377799|PMID:17020470|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17546245|PMID:17910045|PMID:17972951|PMID:18331608|PMID:18454468|PMID:18759865|PMID:19063751|PMID:19077116|PMID:20237506|PMID:20383758|PMID:20852937|PMID:21340158|PMID:21407260|PMID:22465605|PMID:22959829|PMID:23446178|PMID:23832011|PMID:23917401|PMID:24033266|PMID:24718990|PMID:25097206|PMID:25741868|PMID:26286251|PMID:26817465|PMID:28492532|PMID:28748642|PMID:28921562|PMID:28991257|PMID:29057136|PMID:29493581|PMID:31560489|PMID:31573083|PMID:33318624|PMID:34006472 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0050700 cardiomyopathy ISO RGD:731746 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:11704759|PMID:11992261|PMID:12161469|PMID:12717436|PMID:14644997|PMID:14676626|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15240615|PMID:15385933|PMID:15389709|PMID:15520399|PMID:15539800|PMID:15690106|PMID:15723289|PMID:15725481|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15948193|PMID:15987685|PMID:16115145|PMID:16358218|PMID:16377799|PMID:16733669|PMID:16804314|PMID:17020470|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17453145|PMID:17546245|PMID:17910045|PMID:17972951|PMID:18241070|PMID:18331608|PMID:18454468|PMID:18505544|PMID:18678287|PMID:18759865|PMID:19020799|PMID:19063751|PMID:19077116|PMID:19273734|PMID:19582499|PMID:20237506|PMID:20301557|PMID:20383758|PMID:2057894|PMID:20852937|PMID:20954246|PMID:21340158|PMID:21407260|PMID:21677813|PMID:21803945|PMID:21910226|PMID:21934682|PMID:22058153|PMID:22190897|PMID:22465605|PMID:22781091|PMID:22923420|PMID:22959829|PMID:23446178|PMID:23673659|PMID:23832011|PMID:23917401|PMID:24033266|PMID:24718990|PMID:24803665|PMID:24935154|PMID:25097206|PMID:25359717|PMID:25500235|PMID:25612910|PMID:25708222|PMID:25724491|PMID:25741868|PMID:25937001|PMID:26286251|PMID:26742426|PMID:26817465|PMID:27153395|PMID:28051113|PMID:28492532|PMID:28748642|PMID:28921562|PMID:28973083|PMID:28991257|PMID:29057136|PMID:29263817|PMID:29493581|PMID:29602897|PMID:30105547|PMID:30732632|PMID:30896080|PMID:31259454|PMID:31560489|PMID:31573083|PMID:32164556|PMID:3274644|PMID:32746448|PMID:33318624|PMID:34006472|PMID:35050212|PMID:35325944|PMID:38540404 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:0050939 uterine corpus endometrial carcinoma ISO RGD:731746 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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 20260519 ClinVar ClinVar Annotator: match by term: Lymphoma PMID:11704759|PMID:11992261|PMID:12161469|PMID:12325025|PMID:12634870|PMID:12960218|PMID:14644997|PMID:15001945|PMID:15834506|PMID:15928039|PMID:16498234|PMID:17497712|PMID:19077116|PMID:19621452|PMID:20301303|PMID:21407260|PMID:21533187|PMID:22420426|PMID:22465605|PMID:22711529|PMID:23624134|PMID:23771920|PMID:23817572|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:27993330|PMID:28328117|PMID:28492532|PMID:28912153|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: Cardio-facio-cutaneous syndrome PMID:25741868|PMID:28492532 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0060249 scoliosis ISO RGD:731746 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Scoliosis PMID:24033266|PMID:24451042|PMID:25741868|PMID:28492532|PMID:29696744|PMID:33726816|PMID:34136434|PMID:40127276 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 20260616 ClinVar ClinVar Annotator: match by term: Ptosis PMID:11704759|PMID:11992261|PMID:12161469|PMID:12325025|PMID:12634870|PMID:12717436|PMID:12960218|PMID:14644997|PMID:15001945|PMID:15248152|PMID:15723289|PMID:15761018|PMID:15834506|PMID:15928039|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16124853|PMID:16358218|PMID:16377799|PMID:16498234|PMID:16804314|PMID:17020470|PMID:17497712|PMID:17661820|PMID:18678287|PMID:18854871|PMID:19020799|PMID:19077116|PMID:19621452|PMID:20301303|PMID:20718194|PMID:21340158|PMID:21407260|PMID:21533187|PMID:22190897|PMID:22420426|PMID:22465605|PMID:22711529|PMID:22781091|PMID:23624134|PMID:23726368|PMID:23771920|PMID:23817572|PMID:24033266|PMID:24037001|PMID:24219368|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24803665|PMID:24935154|PMID:25156961|PMID:25337068|PMID:25595571|PMID:25741868|PMID:25741869|PMID:25862627|PMID:26084119|PMID:26242988|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26817465|PMID:26822237|PMID:27038324|PMID:27104176|PMID:27993330|PMID:28328117|PMID:28492532|PMID:28912153|PMID:29493581|PMID:29696744|PMID:29907801|PMID:30055033|PMID:30311386|PMID:30417923|PMID:30692697|PMID:31219622|PMID:31560489|PMID:32164556|PMID:32371413|PMID:32901917|PMID:33726816|PMID:34008892|PMID:34136434|PMID:34850017|PMID:34988410|PMID:35101336|PMID:38540404|PMID:39596579|PMID:40127276 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 20260616 ClinVar ClinVar Annotator: match by term: Noonan syndrome 1 | ClinVar Annotator: match by term: Noonan syndrome type 1 PMID:000037664|PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12960218|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14982869|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15240615|PMID:15248152|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:15948193|PMID:15951301|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16053901|PMID:16115145|PMID:16124853|PMID:16166557|PMID:16263833|PMID:16338218|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16467864|PMID:16498234|PMID:16518851|PMID:16523510|PMID:16557282|PMID:16638574|PMID:16643459|PMID:1672296|PMID:16733669|PMID:16804314|PMID:16830086|PMID:16892325|PMID:16987887|PMID:16990350|PMID:17020470|PMID:17053061|PMID:17177198|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17453145|PMID:17497712|PMID:17546245|PMID:17576681|PMID:17641779|PMID:17661820|PMID:17875892|PMID:17910045|PMID:17927788|PMID:17935252|PMID:17972951|PMID:18080325|PMID:18223690|PMID:18241070|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:18759865|PMID:18849586|PMID:18854871|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19063751|PMID:19077116|PMID:19120036|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19260062|PMID:19273734|PMID:19506109|PMID:19582499|PMID:19621452|PMID:19651601|PMID:19659470|PMID:19681119|PMID:19706403|PMID:19737548|PMID:19768645|PMID:19795160|PMID:19825837|PMID:19864201|PMID:20030748|PMID:20112233|PMID:20186801|PMID:20237506|PMID:20301303|PMID:20301557|PMID:20301772|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:20543023|PMID:2057894|PMID:20718194|PMID:20852937|PMID:20883402|PMID:20954246|PMID:21106241|PMID:21204800|PMID:21248739|PMID:21321969|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21396583|PMID:21407260|PMID:21465649|PMID:21533187|PMID:21590266|PMID:21677813|PMID:21680795|PMID:21784453|PMID:21803945|PMID:21901340|PMID:21910226|PMID:21910245|PMID:21934682|PMID:22058153|PMID:22097954|PMID:22142829|PMID:22190897|PMID:22253195|PMID:22411627|PMID:22420426|PMID:22465605|PMID:22528600|PMID:22551697|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22848035|PMID:22923420|PMID:22959829|PMID:23312806|PMID:23317994|PMID:23321623|PMID:23334666|PMID:23446178|PMID:23457302|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:24033266|PMID:24037001|PMID:24039098|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24436047|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24767283|PMID:24775816|PMID:24790373|PMID:24803665|PMID:24821303|PMID:24891296|PMID:24896146|PMID:24931631|PMID:24935154|PMID:24939587|PMID:25039348|PMID:25097206|PMID:25156961|PMID:25231023|PMID:25253770|PMID:25326637|PMID:25337068|PMID:25359717|PMID:25395418|PMID:25425531|PMID:25500235|PMID:25544017|PMID:25595571|PMID:25612910|PMID:2564168|PMID:25695693|PMID:25708222|PMID:25724491|PMID:2572450|PMID:25741868|PMID:25741869|PMID:25804457|PMID:25862627|PMID:25884655|PMID:25914815|PMID:25917897|PMID:25937001|PMID:26084119|PMID:26121087|PMID:26138366|PMID:26206283|PMID:26242988|PMID:26286251|PMID:26337637|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26633542|PMID:26742426|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26918529|PMID:27030275|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27153395|PMID:27168466|PMID:27238887|PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27626068|PMID:27659786|PMID:27683039|PMID:27876779|PMID:27959697|PMID:27993330|PMID:28051113|PMID:28074573 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0060578 Noonan syndrome 1 ISO RGD:731746 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Noonan syndrome 1 | ClinVar Annotator: match by term: Noonan syndrome type 1 PMID:28098151|PMID:28125078|PMID:28328117|PMID:28483241|PMID:28492532|PMID:28650561|PMID:28681392|PMID:28748642|PMID:28911804|PMID:28912153|PMID:28921562|PMID:28966033|PMID:28973083|PMID:28991257|PMID:29057136|PMID:29212898|PMID:29263817|PMID:29300386|PMID:29346770|PMID:29356064|PMID:29493581|PMID:29568093|PMID:29602897|PMID:29625052|PMID:29693080|PMID:29758562|PMID:29763623|PMID:29907801|PMID:29988639|PMID:30025578|PMID:30050098|PMID:30055033|PMID:30097824|PMID:30105547|PMID:30311386|PMID:30325180|PMID:30375388|PMID:30417923|PMID:30455982|PMID:30515541|PMID:30523111|PMID:30541462|PMID:30577886|PMID:30602027|PMID:30692697|PMID:30732632|PMID:30784236|PMID:30868567|PMID:30896080|PMID:30919686|PMID:31164752|PMID:31219622|PMID:31250151|PMID:31259454|PMID:31324109|PMID:31370276|PMID:31560489|PMID:31573083|PMID:31802236|PMID:31827275|PMID:31941532|PMID:32164556|PMID:32164789|PMID:32188694|PMID:32233106|PMID:32368696|PMID:32371413|PMID:32410215|PMID:32561839|PMID:32565546|PMID:32573669|PMID:32668031|PMID:32719394|PMID:32737134|PMID:3274644|PMID:32746448|PMID:32794475|PMID:32806529|PMID:32859279|PMID:32901917|PMID:33056981|PMID:33128510|PMID:33300679|PMID:33318624|PMID:33568805|PMID:33619735|PMID:33726816|PMID:33811550|PMID:33850299|PMID:34006472|PMID:34008892|PMID:34136434|PMID:34143244|PMID:34166060|PMID:34303558|PMID:34308104|PMID:34346503|PMID:34358384|PMID:34643321|PMID:34704406|PMID:34782754|PMID:34850017|PMID:34988410|PMID:35050212|PMID:35101336|PMID:35248088|PMID:35325944|PMID:35396703|PMID:35697228|PMID:35769956|PMID:35858754|PMID:35885957|PMID:35979676|PMID:36304179|PMID:36349709|PMID:36496429|PMID:36544606|PMID:36567979|PMID:36714562|PMID:36973454|PMID:37302266|PMID:37600658|PMID:37923938|PMID:38374194|PMID:38413718|PMID:38515811|PMID:38540404|PMID:38862387|PMID:39392019|PMID:39434542|PMID:39596579|PMID:39669259|PMID:40036726|PMID:40127276|PMID:40225944|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 20260616 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:15001945|PMID:15240615|PMID:15248152|PMID:15385933|PMID:15520399|PMID:15689434|PMID:15690106|PMID:15723289|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16053901|PMID:16124853|PMID:16166557|PMID:16263833|PMID:16358218|PMID:16377799|PMID:16467864|PMID:16498234|PMID:16733669|PMID:16804314|PMID:17020470|PMID:17339163|PMID:17497712|PMID:17641779|PMID:17661820|PMID:18241070|PMID:18286234|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:19621452|PMID:19706403|PMID:19737548|PMID:20112233|PMID:20301303|PMID:20301557|PMID:2057894|PMID:20718194|PMID:20954246|PMID:21106241|PMID:21204800|PMID:21340158|PMID:21407260|PMID:21533187|PMID:21677813|PMID:21680795|PMID:21803945|PMID:21910226|PMID:22058153|PMID:22190897|PMID:22420426|PMID:22465605|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22848035|PMID:23321623|PMID:23624134|PMID:23673659|PMID:23726368|PMID:23756559|PMID:23771920|PMID:23817572|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: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:27521173|PMID:27683039|PMID:27993330|PMID:28328117|PMID:28492532|PMID:28911804|PMID:28912153|PMID:28973083|PMID:29212898|PMID:29493581|PMID:29907801|PMID:30055033|PMID:30311386|PMID:30417923|PMID:30692697|PMID:30732632|PMID:31219622|PMID:31560489|PMID:32164556|PMID:32371413|PMID:32565546|PMID:32901917|PMID:33300679|PMID:33811550|PMID:34008892|PMID:34782754|PMID:34850017|PMID:34988410|PMID:35050212|PMID:35101336|PMID:35769956|PMID:35979676|PMID:36304179|PMID:36544606|PMID:38540404|PMID:39596579|PMID:9491886 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0060641 endocrine-cerebro-osteodysplasia syndrome ISO RGD:731746 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Dysplastic corpus callosum PMID:11992261|PMID:15520399|PMID:15690106|PMID:15889278|PMID:15948193|PMID:16518851|PMID:19582499|PMID:19681119|PMID:21533187|PMID:21803945|PMID:21910226|PMID:22058153|PMID:22142829|PMID:22465605|PMID:23312806|PMID:24150203|PMID:24436047|PMID:24775816|PMID:24935154|PMID:24939587|PMID:25741868|PMID:26138366|PMID:26817465|PMID:27993330|PMID:28125078|PMID:28492532|PMID:30311386|PMID:30732632|PMID:30919686|PMID:31560489|PMID:33318624|PMID:34166060|PMID:34704406|PMID:35248088|PMID:35979676|PMID:37302266|PMID:38515811 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0080010 bone structure disease ISO RGD:731746 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Abnormality of bone mineral density PMID:11704759|PMID:11992261|PMID:12161469|PMID:12325025|PMID:12634870|PMID:12960218|PMID:14644997|PMID:15001945|PMID:15834506|PMID:15928039|PMID:16498234|PMID:17497712|PMID:19077116|PMID:19621452|PMID:20301303|PMID:21407260|PMID:21533187|PMID:22420426|PMID:22465605|PMID:22711529|PMID:23624134|PMID:23771920|PMID:23817572|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:27993330|PMID:28328117|PMID:28492532|PMID:28912153|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: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 20260616 ClinVar ClinVar Annotator: match by term: LEOPARD syndrome 1 PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12960218|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14982869|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15240615|PMID:15248152|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:15948193|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16053901|PMID:16115145|PMID:16124853|PMID:16166557|PMID:16263833|PMID:16338218|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16498234|PMID:16518851|PMID:16523510|PMID:16557282|PMID:16638574|PMID:16643459|PMID:1672296|PMID:16733669|PMID:16804314|PMID:16892325|PMID:16987887|PMID:16990350|PMID:17020470|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17453145|PMID:17497712|PMID:17546245|PMID:17576681|PMID:17641779|PMID:17661820|PMID:17875892|PMID:17910045|PMID:17927788|PMID:17935252|PMID:17972951|PMID:18080325|PMID:18241070|PMID:18331608|PMID:18372317|PMID:18373317|PMID:18454468|PMID:18470943|PMID:18505544|PMID:18562489|PMID:18678287|PMID:18701506|PMID:18759865|PMID:18849586|PMID:18854871|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19063751|PMID:19077116|PMID:19120036|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19260062|PMID:19273734|PMID:19582499|PMID:19621452|PMID:19651601|PMID:19659470|PMID:19681119|PMID:19706403|PMID:19768645|PMID:19795160|PMID:19825837|PMID:19864201|PMID:20030748|PMID:20186801|PMID:20237506|PMID:20301303|PMID:20301557|PMID:20301772|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:20543023|PMID:2057894|PMID:20718194|PMID:20883402|PMID:20954246|PMID:21106241|PMID:21204800|PMID:21321969|PMID:21339643|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21396583|PMID:21407260|PMID:21533187|PMID:21590266|PMID:21677813|PMID:21784453|PMID:21803945|PMID:21901340|PMID:21910226|PMID:21910245|PMID:21934682|PMID:22058153|PMID:22097954|PMID:22142829|PMID:22190897|PMID:22411627|PMID:22420426|PMID:22465605|PMID:22528600|PMID:22551697|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22822385|PMID:22848035|PMID:22923420|PMID:23312806|PMID:23317994|PMID:23321623|PMID:23446178|PMID:23457302|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23726368|PMID:23756559|PMID:23771920|PMID:23799168|PMID:23813970|PMID:23817572|PMID:23825065|PMID:23832011|PMID:23957426|PMID:23996481|PMID:24033266|PMID:24037001|PMID:24039098|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24436047|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24767283|PMID:24775816|PMID:24790373|PMID:24803665|PMID:24820750|PMID:24891296|PMID:24935154|PMID:24939587|PMID:25097206|PMID:25156961|PMID:25231023|PMID:25337068|PMID:25359717|PMID:25395418|PMID:25425531|PMID:25500235|PMID:25544017|PMID:25595571|PMID:25612910|PMID:2564168|PMID:25695693|PMID:25708222|PMID:25724491|PMID:2572450|PMID:25741868|PMID:25741869|PMID:25862627|PMID:25884655|PMID:25914815|PMID:25917897|PMID:25937001|PMID:26084119|PMID:26138366|PMID:26242988|PMID:26286251|PMID:26337637|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26633542|PMID:26742426|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26918529|PMID:27030275|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27153395|PMID:27168466|PMID:27238887|PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27659786|PMID:27876779|PMID:27959697|PMID:27993330|PMID:28051113|PMID:28074573|PMID:28125078|PMID:28328117|PMID:28483241|PMID:28492532|PMID:28650561|PMID:28681392|PMID:28748642|PMID:28911804|PMID:28912153|PMID:28921562|PMID:28966033|PMID:28973083|PMID:28991257|PMID:29057136|PMID:29212898|PMID:29263817|PMID:29300386|PMID:29346770|PMID:29356064|PMID:29493581|PMID:29602897|PMID:29625052|PMID:29693080|PMID:29758562|PMID:29763623|PMID:29907801|PMID:29988639|PMID:30025578|PMID:30050098 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0080548 Noonan syndrome with multiple lentigines 1 ISO RGD:731746 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: LEOPARD syndrome 1 PMID:30055033|PMID:30105547|PMID:30311386|PMID:30325180|PMID:30375388|PMID:30417923|PMID:30455982|PMID:30515541|PMID:30541462|PMID:30577886|PMID:30602027|PMID:30692697|PMID:30732632|PMID:30784236|PMID:30896080|PMID:30919686|PMID:31219622|PMID:31259454|PMID:31324109|PMID:31370276|PMID:31560489|PMID:31827275|PMID:31941532|PMID:32164556|PMID:32233106|PMID:32368696|PMID:32371413|PMID:32561839|PMID:32565546|PMID:32573669|PMID:32668031|PMID:32719394|PMID:32737134|PMID:3274644|PMID:32746448|PMID:32901917|PMID:33300679|PMID:33318624|PMID:33568805|PMID:33726816|PMID:33811550|PMID:33850299|PMID:34006472|PMID:34008892|PMID:34143244|PMID:34166060|PMID:34303558|PMID:34308104|PMID:34346503|PMID:34358384|PMID:34704406|PMID:34782754|PMID:34850017|PMID:34988410|PMID:35050212|PMID:35101336|PMID:35248088|PMID:35325944|PMID:35396703|PMID:35697228|PMID:35858754|PMID:35885957|PMID:35979676|PMID:36304179|PMID:36349709|PMID:36496429|PMID:36567979|PMID:37302266|PMID:37923938|PMID:38374194|PMID:38413718|PMID:38515811|PMID:38540404|PMID:39392019|PMID:39596579|PMID:39669259|PMID:40225944|PMID:9491886|PMID:9536098|PMID:9751050 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0080684 diffuse midline glioma, H3 K27-altered ISO RGD:731746 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Diffuse midline glioma, H3 K27M-mutant PMID:11992261|PMID:12717436|PMID:12960218|PMID:14644997|PMID:15001945|PMID:15121796|PMID:15385933|PMID:15389709|PMID:15470362|PMID:15710330|PMID:15928039|PMID:15987685|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16518851|PMID:16523510|PMID:16892325|PMID:16987887|PMID:16990350|PMID:17339163|PMID:17661820|PMID:17875892|PMID:17972951|PMID:18241070|PMID:18372317|PMID:18505544|PMID:19047918|PMID:19179468|PMID:19659470|PMID:19681119|PMID:19768645|PMID:20301557|PMID:20493809|PMID:21533187|PMID:21590266|PMID:21784453|PMID:22142829|PMID:22190897|PMID:22465605|PMID:22781091|PMID:23321623|PMID:23584145|PMID:23799168|PMID:24033266|PMID:24436047|PMID:24451042|PMID:24718990|PMID:24790373|PMID:24803665|PMID:24891296|PMID:24935154|PMID:25097206|PMID:25395418|PMID:25425531|PMID:25544017|PMID:25741868|PMID:25862627|PMID:26138366|PMID:26918529|PMID:27069254|PMID:27276561|PMID:27562378|PMID:27993330|PMID:28483241|PMID:28492532|PMID:28912153|PMID:28966033|PMID:29300386|PMID:29356064|PMID:29493581|PMID:29693080|PMID:29763623|PMID:29907801|PMID:29988639|PMID:30050098|PMID:30417923|PMID:30732632|PMID:31219622|PMID:31370276|PMID:31560489|PMID:32561839|PMID:32573669|PMID:32746448|PMID:33318624|PMID:34008892|PMID:34166060|PMID:35697228|PMID:35885957|PMID:35979676|PMID:36304179|PMID:36567979|PMID:37445722|PMID:39669259|PMID:40225944 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 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 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:0080690 RASopathy ISO RGD:731746 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: Rasopathy | ClinVar Annotator: match by term: rasopathies PMID:000037664|PMID:10594032|PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12900909|PMID:12960218|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14982869|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15240615|PMID:15248152|PMID:15273746|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: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:16358218|PMID:16369799|PMID:16377799|PMID:16467864|PMID:16488201|PMID:16498234|PMID:16518851|PMID:16523510|PMID:16533526|PMID:16557282|PMID:16638574|PMID:16643459|PMID:1672296|PMID:16733669|PMID:16804314|PMID:16830086|PMID:16892325|PMID:16987887|PMID:16990350|PMID:17020470|PMID:17053061|PMID:17177198|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17453145|PMID:17497712|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:18286234|PMID:18328949|PMID:18331608|PMID:18348260|PMID:18372317|PMID:18373317|PMID:18454468|PMID:18470943|PMID:18505544|PMID:18559669|PMID:18562489|PMID:18678287|PMID:18701506|PMID:18759865|PMID:18849586|PMID:18854871|PMID:19008228|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19063751|PMID:19077116|PMID:19120036|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19260062|PMID:19273734|PMID:19352411|PMID:19506109|PMID:19582499|PMID:19621452|PMID:19651601|PMID:19659470|PMID:19681119|PMID:19706403|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:20301772|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:20543023|PMID:20577567|PMID:2057894|PMID:20651068|PMID:20718194|PMID:20852937|PMID:20883402|PMID:20954246|PMID:21106241|PMID:21204800|PMID:21248739|PMID:21321969|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21396583|PMID:21407260|PMID:21533187|PMID:21590266|PMID:21677813|PMID:21680795|PMID:21784453|PMID:21803945|PMID:21901340|PMID:21910226|PMID:21910245|PMID:21934682|PMID:22058153|PMID:22097954|PMID:22131879|PMID:22142829|PMID:22190897|PMID:22253195|PMID:22315187|PMID:22371576|PMID:22411627|PMID:22420426|PMID:22465605|PMID:22528600|PMID:22551697|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22848035|PMID:22923420|PMID:22959829|PMID:23312806|PMID:23317994|PMID:23321623|PMID:23446178|PMID:23457302|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:24033266|PMID:24037001|PMID:24039098|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24338706|PMID:24436047|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24739123|PMID:24767283|PMID:24775816|PMID:24790373|PMID:24803665|PMID:24821303|PMID:24891296|PMID:24896146|PMID:24931631|PMID:24935154|PMID:24939587|PMID:25039348|PMID:25097206|PMID:25156961|PMID:25231023|PMID:25253770|PMID:25331952|PMID:25337068|PMID:25359717|PMID:25383899|PMID:25395418|PMID:25425531|PMID:25500235|PMID:25544017|PMID:25595571|PMID:25612910|PMID:2564168|PMID:25695693|PMID:25708222|PMID:25724491|PMID:2572450|PMID:25741868|PMID:25741869|PMID:25802336|PMID:25804457|PMID:25862627|PMID:25884655|PMID:25914815|PMID:25917897|PMID:25937001|PMID:26084119|PMID:26138366|PMID:26242988|PMID:26286251|PMID:26337637|PMID:26424407|PMID:26456833|PMID:26457647|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26633542|PMID:26742426 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0080690 RASopathy ISO RGD:731746 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: Rasopathy | ClinVar Annotator: match by term: rasopathies PMID:26783207|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26918529|PMID:27030275|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27153395|PMID:27168466|PMID:27238887|PMID:27259537|PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27626068|PMID:27659786|PMID:27683039|PMID:27763634|PMID:27876779|PMID:27959697|PMID:27993330|PMID:28051113|PMID:28074573|PMID:28098151|PMID:28125078|PMID:28287082|PMID:28328117|PMID:28366775|PMID:28483241|PMID:28492532|PMID:28650561|PMID:28681392|PMID:28748642|PMID:28819267|PMID:28911804|PMID:28912153|PMID:28921562|PMID:28966033|PMID:28973083|PMID:28991257|PMID:29057136|PMID:29084544|PMID:29212898|PMID:29263817|PMID:29300386|PMID:29346770|PMID:29356064|PMID:29437595|PMID:29493581|PMID:29533785|PMID:29602897|PMID:29625052|PMID:29693080|PMID:29696744|PMID:29758562|PMID:29763623|PMID:29907801|PMID:29988639|PMID:30025578|PMID:30050098|PMID:30055033|PMID:30105547|PMID:30266093|PMID:30311386|PMID:30325180|PMID:30375388|PMID:30417923|PMID:30455982|PMID:30515541|PMID:30541462|PMID:30577886|PMID:30602027|PMID:30692697|PMID:30732632|PMID:30784236|PMID:30868567|PMID:30896080|PMID:30919686|PMID:31040167|PMID:31219622|PMID:31250151|PMID:31259454|PMID:31263281|PMID:31324109|PMID:31370276|PMID:31560489|PMID:31573083|PMID:31827275|PMID:31941532|PMID:32112654|PMID:32164556|PMID:32164789|PMID:32233106|PMID:32368696|PMID:32371413|PMID:32410215|PMID:32561839|PMID:32565546|PMID:32573669|PMID:32627857|PMID:32668031|PMID:32719394|PMID:32737134|PMID:3274644|PMID:32746448|PMID:32794475|PMID:32859279|PMID:32901917|PMID:33128510|PMID:33249554|PMID:33300679|PMID:33318624|PMID:33568805|PMID:33619735|PMID:33726816|PMID:33794220|PMID:33811550|PMID:33850299|PMID:33898683|PMID:34006472|PMID:34008892|PMID:34136434|PMID:34143244|PMID:34166060|PMID:34303558|PMID:34308104|PMID:34346503|PMID:34358384|PMID:34411415|PMID:34589056|PMID:34643321|PMID:34704406|PMID:34782754|PMID:34850017|PMID:34918830|PMID:34988410|PMID:35050212|PMID:35101336|PMID:35248088|PMID:35278234|PMID:35325944|PMID:35396703|PMID:35616356|PMID:35697228|PMID:35769956|PMID:35858754|PMID:35885957|PMID:35979676|PMID:36304179|PMID:36349709|PMID:36496429|PMID:36544606|PMID:36567979|PMID:36760995|PMID:37302266|PMID:37600658|PMID:37923938|PMID:38374194|PMID:38413718|PMID:38515811|PMID:38540404|PMID:38572385|PMID:38862387|PMID:39202410|PMID:39392019|PMID:39484914|PMID:39596579|PMID:39669259|PMID:40127276|PMID:40225944|PMID:9491886|PMID:9536098|PMID:9751050 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0080829 low grade glioma ISO RGD:731746 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Low grade glioma PMID:12717436|PMID:14644997|PMID:15385933|PMID:15710330|PMID:15928039|PMID:16358218|PMID:17972951|PMID:19047918|PMID:19179468|PMID:23817572|PMID:24033266|PMID:25097206|PMID:25395418|PMID:25741868|PMID:27069254|PMID:27626068|PMID:27993330|PMID:28098151|PMID:28912153|PMID:30868567|PMID:31250151|PMID:32164789|PMID:32859279|PMID:36349709 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0080918 polymicrogyria ISO RGD:731746 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Polymicrogyria PMID:11992261|PMID:14644997|PMID:15121796|PMID:15385933|PMID:15710330|PMID:15928039|PMID:16369799|PMID:16523510|PMID:16987887|PMID:17339163|PMID:17875892|PMID:17972951|PMID:18241070|PMID:18505544|PMID:19047918|PMID:19179468|PMID:19768645|PMID:20301557|PMID:21533187|PMID:22190897|PMID:24033266|PMID:24451042|PMID:24803665|PMID:24891296|PMID:24935154|PMID:25097206|PMID:25395418|PMID:25544017|PMID:25741868|PMID:26918529|PMID:27069254|PMID:27276561|PMID:27562378|PMID:27993330|PMID:28492532|PMID:28912153|PMID:28966033|PMID:29356064|PMID:29493581|PMID:29693080|PMID:29763623|PMID:30417923|PMID:30732632|PMID:31219622|PMID:31370276|PMID:32561839|PMID:32746448|PMID:33318624|PMID:34008892|PMID:35697228|PMID:35979676|PMID:36567979|PMID:39669259|PMID:40225944 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0081284 rosette-forming glioneuronal tumor ISO RGD:731746 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Rosette-forming glioneuronal tumor PMID:12717436|PMID:14644997|PMID:15385933|PMID:15710330|PMID:15928039|PMID:16358218|PMID:17972951|PMID:19047918|PMID:19179468|PMID:23817572|PMID:24033266|PMID:25097206|PMID:25395418|PMID:25741868|PMID:27069254|PMID:27626068|PMID:27993330|PMID:28098151|PMID:28912153|PMID:30868567|PMID:31250151|PMID:32164789|PMID:32859279|PMID:36349709 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0090131 complex cortical dysplasia with other brain malformations ISO RGD:731746 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Cortical dysplasia PMID:11992261|PMID:14644997|PMID:15121796|PMID:15385933|PMID:15710330|PMID:15928039|PMID:16369799|PMID:16523510|PMID:16987887|PMID:17339163|PMID:17875892|PMID:17972951|PMID:18241070|PMID:18505544|PMID:19047918|PMID:19179468|PMID:19768645|PMID:20301557|PMID:21533187|PMID:22190897|PMID:24033266|PMID:24451042|PMID:24803665|PMID:24891296|PMID:24935154|PMID:25097206|PMID:25395418|PMID:25544017|PMID:25741868|PMID:26918529|PMID:27069254|PMID:27276561|PMID:27562378|PMID:27993330|PMID:28492532|PMID:28912153|PMID:28966033|PMID:29356064|PMID:29493581|PMID:29693080|PMID:29763623|PMID:30417923|PMID:30732632|PMID:31219622|PMID:31370276|PMID:32561839|PMID:32746448|PMID:33318624|PMID:34008892|PMID:35697228|PMID:35979676|PMID:36567979|PMID:39669259|PMID:40225944 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 20260616 ClinVar ClinVar Annotator: match by term: METACHONDROMATOSIS | ClinVar Annotator: match by term: Metachondromatosis PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12960218|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14982869|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15240615|PMID:15248152|PMID:15385933|PMID:15520399|PMID:15539800|PMID:15604238|PMID:15689434|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15928039|PMID:15948193|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16053901|PMID:16115145|PMID:16124853|PMID:16166557|PMID:16263833|PMID:16338218|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16498234|PMID:16523510|PMID:16557282|PMID:16638574|PMID:16643459|PMID:16804314|PMID:16892325|PMID:16987887|PMID:16990350|PMID:17020470|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17497712|PMID:17546245|PMID:17576681|PMID:17641779|PMID:17661820|PMID:17875892|PMID:17910045|PMID:17927788|PMID:17935252|PMID:17972951|PMID:18080325|PMID:18241070|PMID:18331608|PMID:18372317|PMID:18373317|PMID:18454468|PMID:18470943|PMID:18505544|PMID:18562489|PMID:18678287|PMID:18701506|PMID:18759865|PMID:18849586|PMID:18854871|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19063751|PMID:19077116|PMID:19120036|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19260062|PMID:19621452|PMID:19651601|PMID:19706403|PMID:19768645|PMID:19795160|PMID:19825837|PMID:19864201|PMID:20030748|PMID:20186801|PMID:20237506|PMID:20301303|PMID:20301557|PMID:20301772|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:20543023|PMID:20577567|PMID:20718194|PMID:20883402|PMID:20954246|PMID:21106241|PMID:21204800|PMID:21321969|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21396583|PMID:21407260|PMID:21533187|PMID:21590266|PMID:21784453|PMID:21901340|PMID:21910245|PMID:21934682|PMID:22190897|PMID:22411627|PMID:22420426|PMID:22465605|PMID:22551697|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22848035|PMID:22923420|PMID:23317994|PMID:23321623|PMID:23446178|PMID:23457302|PMID:23584145|PMID:23624134|PMID:23726368|PMID:23756559|PMID:23771920|PMID:23813970|PMID:23817572|PMID:23825065|PMID:23832011|PMID:23957426|PMID:23996481|PMID:24033266|PMID:24037001|PMID:24039098|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24767283|PMID:24775816|PMID:24803665|PMID:24891296|PMID:24935154|PMID:25097206|PMID:25156961|PMID:25231023|PMID:25337068|PMID:25395418|PMID:25425531|PMID:25500235|PMID:25544017|PMID:25595571|PMID:25612910|PMID:25695693|PMID:25741868|PMID:25741869|PMID:25862627|PMID:25884655|PMID:25914815|PMID:25917897|PMID:26084119|PMID:26242988|PMID:26286251|PMID:26337637|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26633542|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26918529|PMID:27030275|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27153395|PMID:27168466|PMID:27238887|PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27659786|PMID:27876779|PMID:27993330|PMID:28051113|PMID:28074573|PMID:28328117|PMID:28483241|PMID:28492532|PMID:28650561|PMID:28681392|PMID:28748642|PMID:28911804|PMID:28912153|PMID:28921562|PMID:28966033|PMID:28991257|PMID:29057136|PMID:29212898|PMID:29300386|PMID:29346770|PMID:29356064|PMID:29493581|PMID:29625052|PMID:29693080|PMID:29758562|PMID:29763623|PMID:29907801|PMID:29988639|PMID:30025578|PMID:30050098|PMID:30055033|PMID:30311386|PMID:30325180|PMID:30417923|PMID:30455982|PMID:30515541|PMID:30541462|PMID:30544257|PMID:30577886|PMID:30602027|PMID:30692697|PMID:30732632|PMID:30784236|PMID:30896080|PMID:31219622|PMID:31324109|PMID:31370276|PMID:31560489|PMID:31827275|PMID:31941532|PMID:32164556|PMID:32233106|PMID:32368696|PMID:32371413|PMID:32561839|PMID:32565546|PMID:32668031|PMID:32719394|PMID:32737134|PMID:32746448|PMID:32901917|PMID:33300679|PMID:33318624|PMID:33568805|PMID:33726816|PMID:33811550|PMID:33850299|PMID:34006472|PMID:34008892|PMID:34143244 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0111512 metachondromatosis ISO RGD:731746 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: METACHONDROMATOSIS | ClinVar Annotator: match by term: Metachondromatosis PMID:34303558|PMID:34308104|PMID:34346503|PMID:34358384|PMID:34782754|PMID:34850017|PMID:34988410|PMID:35101336|PMID:35325944|PMID:35396703|PMID:35697228|PMID:35858754|PMID:35979676|PMID:36304179|PMID:36349709|PMID:36496429|PMID:36567979|PMID:37923938|PMID:38374194|PMID:38413718|PMID:38540404|PMID:39392019|PMID:39596579|PMID:39669259|PMID:40225944|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 20260519 ClinVar ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation PMID:11992261|PMID:12634870|PMID:15001945|PMID:15956085|PMID:16358218|PMID:16804314|PMID:18678287|PMID:19077116|PMID:19125092|PMID:19260062|PMID:20030748|PMID:20301303|PMID:21204800|PMID:21533187|PMID:21590266|PMID:22465605|PMID:22551697|PMID:24033266|PMID:24935154|PMID:25741868|PMID:26918529|PMID:28492532|PMID:29493581|PMID:9751050 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:10175 optic papillitis ISO RGD:731746 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Optic papillitis PMID:11704759|PMID:11992261|PMID:12717436|PMID:12960218|PMID:15001945|PMID:15248152|PMID:15723289|PMID:15761018|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16124853|PMID:16358218|PMID:16377799|PMID:16804314|PMID:17020470|PMID:17661820|PMID:18678287|PMID:18854871|PMID:19020799|PMID:19077116|PMID:20718194|PMID:21340158|PMID:21533187|PMID:22190897|PMID:22465605|PMID:22781091|PMID:23726368|PMID:24033266|PMID:24451042|PMID:24628801|PMID:24935154|PMID:25595571|PMID:25741868|PMID:25741869|PMID:26467025|PMID:26817465|PMID:26822237|PMID:28492532|PMID:34850017|PMID:34988410|PMID:35101336|PMID:38540404|PMID:39596579 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:10376 amblyopia ISO RGD:731746 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Amblyopia PMID:11992261|PMID:12717436|PMID:15689434|PMID:15996221|PMID:16124853|PMID:16358218|PMID:16377799|PMID:17020470|PMID:17339163|PMID:18470943|PMID:18678287|PMID:18854871|PMID:19120036|PMID:20301303|PMID:23771920|PMID:24033266|PMID:24183200|PMID:25741868|PMID:26918529|PMID:27521173|PMID:28492532|PMID:30417923|PMID:31560489|PMID:32164556|PMID:32565546|PMID:33300679|PMID:36304179 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:10534 stomach cancer ISO RGD:731746 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 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 20260519 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability PMID:11992261|PMID:12161469|PMID:12634870|PMID:12717436|PMID:12960218|PMID:14644997|PMID:14676626|PMID:15001945|PMID:15009076|PMID:15240615|PMID:15385933|PMID:15520399|PMID:15539800|PMID:15690106|PMID:15723289|PMID:15725481|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15948193|PMID:15956085|PMID:15987685|PMID:16115145|PMID:16358218|PMID:16377799|PMID:16518851|PMID:16804314|PMID:17020470|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17546245|PMID:17910045|PMID:17972951|PMID:18331608|PMID:18454468|PMID:18470943|PMID:18678287|PMID:18758896|PMID:19063751|PMID:19077116|PMID:19125092|PMID:19260062|PMID:19582499|PMID:19681119|PMID:20030748|PMID:20237506|PMID:20301303|PMID:20383758|PMID:21204800|PMID:21407260|PMID:21533187|PMID:21590266|PMID:21803945|PMID:21910226|PMID:22058153|PMID:22142829|PMID:22465605|PMID:22551697|PMID:23312806|PMID:23334668|PMID:23446178|PMID:23513489|PMID:23756559|PMID:23832011|PMID:24033266|PMID:24150203|PMID:24436047|PMID:24451042|PMID:24718990|PMID:24754368|PMID:24775816|PMID:24935154|PMID:24939587|PMID:25097206|PMID:25741868|PMID:26138366|PMID:26286251|PMID:26785492|PMID:26817465|PMID:26833328|PMID:26918529|PMID:27993330|PMID:28125078|PMID:28492532|PMID:28628100|PMID:29493581|PMID:29703613|PMID:29907801|PMID:30311386|PMID:30732632|PMID:30919686|PMID:31560489|PMID:32164556|PMID:33318624|PMID:34136434|PMID:34166060|PMID:35248088|PMID:35979676|PMID:9491886|PMID:9751050 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:1059 intellectual disability ISO RGD:731746 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild | ClinVar Annotator: match by term: Severe intellectual disability PMID:11992261|PMID:12161469|PMID:12634870|PMID:12717436|PMID:14644997|PMID:14676626|PMID:15001945|PMID:15009076|PMID:15240615|PMID:15385933|PMID:15520399|PMID:15539800|PMID:15690106|PMID:15723289|PMID:15725481|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15948193|PMID:15956085|PMID:15987685|PMID:16115145|PMID:16358218|PMID:16377799|PMID:16518851|PMID:16804314|PMID:17020470|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17546245|PMID:17910045|PMID:17972951|PMID:18331608|PMID:18454468|PMID:18678287|PMID:19063751|PMID:19077116|PMID:19125092|PMID:19260062|PMID:19582499|PMID:19681119|PMID:20030748|PMID:20237506|PMID:20301303|PMID:20383758|PMID:21204800|PMID:21533187|PMID:21590266|PMID:21803945|PMID:21910226|PMID:22058153|PMID:22142829|PMID:22465605|PMID:22551697|PMID:23312806|PMID:23446178|PMID:23832011|PMID:24033266|PMID:24150203|PMID:24436047|PMID:24451042|PMID:24718990|PMID:24775816|PMID:24935154|PMID:24939587|PMID:25097206|PMID:25741868|PMID:26138366|PMID:26286251|PMID:26817465|PMID:26833328|PMID:26918529|PMID:27993330|PMID:28125078|PMID:28492532|PMID:29493581|PMID:30311386|PMID:30732632|PMID:30919686|PMID:31560489|PMID:32164556|PMID:33318624|PMID:33726816|PMID:34136434|PMID:34166060|PMID:34704406|PMID:35248088|PMID:35979676|PMID:37302266|PMID:38515811|PMID:40127276|PMID:9751050 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:1074 kidney failure ISO RGD:731746 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Renal insufficiency PMID:11704759|PMID:11992261|PMID:12161469|PMID:12325025|PMID:12634870|PMID:12960218|PMID:14644997|PMID:15001945|PMID:15834506|PMID:15928039|PMID:16498234|PMID:17497712|PMID:19077116|PMID:19621452|PMID:20301303|PMID:21407260|PMID:21533187|PMID:22420426|PMID:22465605|PMID:22711529|PMID:23624134|PMID:23771920|PMID:23817572|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:27993330|PMID:28328117|PMID:28492532|PMID:28912153|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:10907 microcephaly ISO RGD:731746 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:11704759|PMID:11992261|PMID:12717436|PMID:14644997|PMID:15121796|PMID:15385933|PMID:15689434|PMID:15710330|PMID:15928039|PMID:15996221|PMID:16124853|PMID:16263833|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16523510|PMID:16987887|PMID:17020470|PMID:17339163|PMID:17875892|PMID:17972951|PMID:18241070|PMID:18470943|PMID:18505544|PMID:18562489|PMID:18678287|PMID:18854871|PMID:19047918|PMID:19120036|PMID:19179468|PMID:19768645|PMID:19795160|PMID:20301303|PMID:20301557|PMID:21533187|PMID:22190897|PMID:23771920|PMID:24033266|PMID:24183200|PMID:24451042|PMID:24803665|PMID:24891296|PMID:24935154|PMID:25097206|PMID:25395418|PMID:25544017|PMID:25741868|PMID:26918529|PMID:27069254|PMID:27276561|PMID:27521173|PMID:27562378|PMID:27993330|PMID:28492532|PMID:28912153|PMID:28966033|PMID:29356064|PMID:29493581|PMID:29693080|PMID:29763623|PMID:30325180|PMID:30417923|PMID:30732632|PMID:31219622|PMID:31370276|PMID:31560489|PMID:32164556|PMID:32561839|PMID:32565546|PMID:32746448|PMID:33300679|PMID:33318624|PMID:33726816|PMID:34008892|PMID:34308104|PMID:35325944|PMID:35697228|PMID:35979676|PMID:36304179|PMID:36567979|PMID:39669259|PMID:40225944 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:10908 hydrocephalus ISO RGD:731746 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Aqueductal stenosis 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:1094 attention deficit hyperactivity disorder ISO RGD:731746 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Attention deficit hyperactivity disorder PMID:11992261|PMID:14644997|PMID:15121796|PMID:15385933|PMID:15710330|PMID:15928039|PMID:16369799|PMID:16523510|PMID:16987887|PMID:17339163|PMID:17875892|PMID:17972951|PMID:18241070|PMID:18505544|PMID:19047918|PMID:19179468|PMID:19768645|PMID:20301557|PMID:21533187|PMID:22190897|PMID:24033266|PMID:24451042|PMID:24803665|PMID:24891296|PMID:24935154|PMID:25097206|PMID:25395418|PMID:25544017|PMID:25741868|PMID:26918529|PMID:27069254|PMID:27276561|PMID:27562378|PMID:27993330|PMID:28492532|PMID:28912153|PMID:28966033|PMID:29356064|PMID:29493581|PMID:29693080|PMID:29763623|PMID:30417923|PMID:30732632|PMID:31219622|PMID:31370276|PMID:32561839|PMID:32746448|PMID:33318624|PMID:34008892|PMID:35697228|PMID:35979676|PMID:36567979|PMID:39669259|PMID:40225944 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:10965 spastic diplegia ISO RGD:731746 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Spastic diplegia PMID:11704759|PMID:11992261|PMID:12717436|PMID:12960218|PMID:15001945|PMID:15248152|PMID:15723289|PMID:15761018|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16124853|PMID:16358218|PMID:16377799|PMID:16804314|PMID:17020470|PMID:17661820|PMID:18678287|PMID:18854871|PMID:19020799|PMID:19077116|PMID:20718194|PMID:21340158|PMID:21533187|PMID:22190897|PMID:22465605|PMID:22781091|PMID:23726368|PMID:24033266|PMID:24451042|PMID:24628801|PMID:24935154|PMID:25595571|PMID:25741868|PMID:25741869|PMID:26467025|PMID:26817465|PMID:26822237|PMID:28492532|PMID:34850017|PMID:34988410|PMID:35101336|PMID:38540404|PMID:39596579 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:11111 hydronephrosis ISO RGD:731746 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Hydronephrosis PMID:11704759|PMID:11992261|PMID:12717436|PMID:12960218|PMID:14644997|PMID:15001945|PMID:15385933|PMID:15389709|PMID:15470362|PMID:15710330|PMID:15834506|PMID:15987685|PMID:16358218|PMID:16377799|PMID:16518851|PMID:16892325|PMID:16990350|PMID:17661820|PMID:17972951|PMID:18372317|PMID:19047918|PMID:19077116|PMID:19659470|PMID:19681119|PMID:20301557|PMID:20493809|PMID:20852937|PMID:21407260|PMID:21533187|PMID:21590266|PMID:21784453|PMID:22142829|PMID:22190897|PMID:22465605|PMID:22781091|PMID:22959829|PMID:23321623|PMID:23584145|PMID:23799168|PMID:23917401|PMID:24033266|PMID:24436047|PMID:24718990|PMID:24790373|PMID:24935154|PMID:25097206|PMID:25395418|PMID:25425531|PMID:25741868|PMID:25862627|PMID:26138366|PMID:26817465|PMID:26918529|PMID:27069254|PMID:27276561|PMID:27993330|PMID:28483241|PMID:28492532|PMID:28748642|PMID:28912153|PMID:28966033|PMID:29300386|PMID:29763623|PMID:29907801|PMID:29988639|PMID:30050098|PMID:30417923|PMID:31560489|PMID:31573083|PMID:32573669|PMID:34006472|PMID:34166060|PMID:35697228|PMID:35885957|PMID:36304179 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:1115 sarcoma ISO RGD:731746 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:11155 hypohidrosis ISO RGD:731746 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hypohidrosis PMID:11992261|PMID:21365683|PMID:21533187|PMID:24033266|PMID:24935154|PMID:25741868|PMID:25862627|PMID:27353043|PMID:28074573|PMID:28492532|PMID:29493581|PMID:29758562|PMID:30602027|PMID:32233106|PMID:32719394|PMID:34006472|PMID:35396703|PMID:9491886 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:11383 cryptorchidism ISO RGD:731746 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Cryptorchidism PMID:11704759|PMID:11992261|PMID:12161469|PMID:12325025|PMID:12634870|PMID:12717436|PMID:12960218|PMID:14644997|PMID:15001945|PMID:15240615|PMID:15248152|PMID:15723289|PMID:15761018|PMID:15834506|PMID:15928039|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16124853|PMID:16358218|PMID:16377799|PMID:16498234|PMID:16804314|PMID:16892325|PMID:16990350|PMID:17020470|PMID:17497712|PMID:17661820|PMID:18372317|PMID:18470943|PMID:18678287|PMID:18854871|PMID:19020799|PMID:19077116|PMID:19621452|PMID:20301303|PMID:20718194|PMID:21106241|PMID:21340158|PMID:21407260|PMID:21533187|PMID:21590266|PMID:21784453|PMID:21901340|PMID:22190897|PMID:22420426|PMID:22465605|PMID:22681964|PMID:22711529|PMID:22781091|PMID:23321623|PMID:23584145|PMID:23624134|PMID:23726368|PMID:23771920|PMID:23817572|PMID:24033266|PMID:24037001|PMID:24183200|PMID:24219368|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24803665|PMID:24935154|PMID:25156961|PMID:25337068|PMID:25425531|PMID:25595571|PMID:25741868|PMID:25741869|PMID:25862627|PMID:26084119|PMID:26242988|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26817465|PMID:26822237|PMID:27030275|PMID:27038324|PMID:27104176|PMID:27993330|PMID:28328117|PMID:28483241|PMID:28492532|PMID:28912153|PMID:28966033|PMID:29300386|PMID:29493581|PMID:29763623|PMID:29907801|PMID:29988639|PMID:30050098|PMID:30055033|PMID:30311386|PMID:30417923|PMID:30692697|PMID:30732632|PMID:31219622|PMID:31560489|PMID:32164556|PMID:32371413|PMID:32668031|PMID:32901917|PMID:34008892|PMID:34303558|PMID:34850017|PMID:34988410|PMID:35101336|PMID:35697228|PMID:38540404|PMID:39596579 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:11476 osteoporosis ISO RGD:731746 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Osteoporosis PMID:11992261|PMID:12717436|PMID:12960218|PMID:15001945|PMID:15987685|PMID:16358218|PMID:16892325|PMID:16990350|PMID:17661820|PMID:18372317|PMID:21590266|PMID:22190897|PMID:22781091|PMID:23584145|PMID:24033266|PMID:25425531|PMID:25741868|PMID:25862627|PMID:27993330|PMID:28483241|PMID:28492532|PMID:28912153|PMID:28966033|PMID:29300386|PMID:29763623|PMID:29988639|PMID:30050098|PMID:30417923|PMID:31560489|PMID:35697228 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:11914 gastroparesis ISO RGD:731746 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastroparesis PMID:25741868 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:731746 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy | 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:15690106|PMID:15710330|PMID:15712196|PMID:15889278|PMID:16338218|PMID:16358218|PMID:16377799|PMID:16638574|PMID:16733669|PMID:17576681|PMID:17927788|PMID:17935252|PMID:17972951|PMID:18241070|PMID:18372317|PMID:18373317|PMID:18505544|PMID:18759865|PMID:18849586|PMID:19047918|PMID:19054014|PMID:19077116|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19273734|PMID:19582499|PMID:19825837|PMID:19864201|PMID:20301303|PMID:20301557|PMID:20301772|PMID:20308328|PMID:20493809|PMID:20535210|PMID:2057894|PMID:20883402|PMID:20954246|PMID:21365175|PMID:21533187|PMID:21677813|PMID:21803945|PMID:21910226|PMID:21910245|PMID:22058153|PMID:22190897|PMID:22411627|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22781091|PMID:23317994|PMID:23457302|PMID:23673659|PMID:23813970|PMID:24033266|PMID:24037001|PMID:24451042|PMID:24767283|PMID:24775816|PMID:24935154|PMID:25097206|PMID:25359717|PMID:25395418|PMID:25544017|PMID:25708222|PMID:25724491|PMID:25741868|PMID:25884655|PMID:25917897|PMID:26337637|PMID:26742426|PMID:27069254|PMID:27238887|PMID:27276561|PMID:27484170|PMID:27659786|PMID:28492532|PMID:28681392|PMID:28973083|PMID:29346770|PMID:29493581|PMID:30025578|PMID:30732632|PMID:32164556|PMID:35050212|PMID:9536098 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:12128 pica disease ISO RGD:731746 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Pica PMID:24451042|PMID:25741868|PMID:28492532|PMID:33726816|PMID:34136434|PMID:40127276 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:12270 coloboma ISO RGD:731746 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Congenital ocular coloboma PMID:11992261|PMID:12161469|PMID:12717436|PMID:14644997|PMID:14676626|PMID:15009076|PMID:15240615|PMID:15385933|PMID:15539800|PMID:15723289|PMID:15725481|PMID:15834506|PMID:15842656|PMID:15928039|PMID:15948193|PMID:15987685|PMID:16115145|PMID:16358218|PMID:16377799|PMID:17020470|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17546245|PMID:17910045|PMID:17972951|PMID:18331608|PMID:18454468|PMID:19063751|PMID:20237506|PMID:20383758|PMID:22465605|PMID:23446178|PMID:23832011|PMID:24033266|PMID:24718990|PMID:25097206|PMID:25741868|PMID:26286251|PMID:28492532|PMID:29493581|PMID:32164556 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:1240 leukemia ISO RGD:731746 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Leukemia PMID:11992261|PMID:12161469|PMID:12717436|PMID:14644997|PMID:14676626|PMID:15009076|PMID:15240615|PMID:15385933|PMID:15539800|PMID:15723289|PMID:15725481|PMID:15834506|PMID:15842656|PMID:15928039|PMID:15948193|PMID:15987685|PMID:16115145|PMID:16358218|PMID:16377799|PMID:17020470|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17546245|PMID:17910045|PMID:17972951|PMID:18331608|PMID:18454468|PMID:19063751|PMID:20237506|PMID:20383758|PMID:22465605|PMID:23446178|PMID:23832011|PMID:24033266|PMID:24718990|PMID:25097206|PMID:25741868|PMID:26286251|PMID:28492532|PMID:29493581|PMID:32164556 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:1247 blood coagulation disease ISO RGD:731746 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Abnormality of coagulation PMID:11704759|PMID:11992261|PMID:12161469|PMID:12717436|PMID:12960218|PMID:14644997|PMID:14676626|PMID:15001945|PMID:15009076|PMID:15240615|PMID:15248152|PMID:15385933|PMID:15539800|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15928039|PMID:15948193|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16115145|PMID:16124853|PMID:16358218|PMID:16377799|PMID:16804314|PMID:17020470|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17546245|PMID:17661820|PMID:17910045|PMID:17972951|PMID:18331608|PMID:18454468|PMID:18678287|PMID:18854871|PMID:19020799|PMID:19063751|PMID:19077116|PMID:20237506|PMID:20383758|PMID:20718194|PMID:21340158|PMID:21533187|PMID:22190897|PMID:22465605|PMID:22781091|PMID:23446178|PMID:23726368|PMID:23832011|PMID:24033266|PMID:24451042|PMID:24628801|PMID:24718990|PMID:24935154|PMID:25097206|PMID:25595571|PMID:25741868|PMID:25741869|PMID:26286251|PMID:26467025|PMID:26817465|PMID:26822237|PMID:28492532|PMID:29493581|PMID:32164556|PMID:34850017|PMID:34988410|PMID:35101336|PMID:38540404|PMID:39596579 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:12557 Duane retraction syndrome ISO RGD:731746 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Duane retraction syndrome PMID:25741868|PMID:28492532 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:12716 newborn respiratory distress syndrome ISO RGD:731746 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Neonatal respiratory distress PMID:11704759|PMID:15834506|PMID:19077116|PMID:20852937|PMID:21407260|PMID:22959829|PMID:23917401|PMID:24033266|PMID:25741868|PMID:26817465|PMID:28492532|PMID:28748642|PMID:31560489|PMID:31573083|PMID:34006472 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:1287 cardiovascular system disease ISO RGD:731746 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Abnormality of the cardiovascular system PMID:11704759|PMID:11992261|PMID:12161469|PMID:12529711|PMID:12634870|PMID:12960218|PMID:15001945|PMID:15240615|PMID:15834506|PMID:16166557|PMID:16358218|PMID:17020470|PMID:17641779|PMID:18470943|PMID:19017799|PMID:19020799|PMID:19621452|PMID:19706403|PMID:21106241|PMID:21533187|PMID:21784453|PMID:21901340|PMID:22465605|PMID:22681964|PMID:22848035|PMID:23321623|PMID:23771920|PMID:23817572|PMID:24033266|PMID:24150203|PMID:24183200|PMID:24451042|PMID:25741868|PMID:26817465|PMID:27030275|PMID:27993330|PMID:28328117|PMID:28492532|PMID:28912153|PMID:29493581|PMID:29907801|PMID:30732632|PMID:31219622|PMID:31560489|PMID:32164556|PMID:32668031|PMID:34008892|PMID:34303558|PMID:35769956|PMID:35979676 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:12930 dilated cardiomyopathy ISO RGD:731746 D RGD:8554872 20260616 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:1324 lung cancer ISO RGD:731746 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:13620 patent foramen ovale ISO RGD:731746 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Patent foramen ovale PMID:11992261|PMID:12634870|PMID:15001945|PMID:15956085|PMID:16358218|PMID:16804314|PMID:18678287|PMID:19077116|PMID:19125092|PMID:19260062|PMID:20030748|PMID:20301303|PMID:21204800|PMID:21533187|PMID:21590266|PMID:22465605|PMID:22551697|PMID:24033266|PMID:24935154|PMID:25741868|PMID:26918529|PMID:28492532|PMID:29493581|PMID:9751050 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:13832 patent ductus arteriosus ISO RGD:731746 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Patent ductus arteriosus PMID:11704759|PMID:11992261|PMID:12161469|PMID:12325025|PMID:12634870|PMID:12960218|PMID:14644997|PMID:15001945|PMID:15834506|PMID:15928039|PMID:16498234|PMID:17497712|PMID:19077116|PMID:19621452|PMID:20301303|PMID:21407260|PMID:21533187|PMID:22420426|PMID:22465605|PMID:22711529|PMID:23624134|PMID:23771920|PMID:23817572|PMID:24033266|PMID:24037001|PMID:24219368|PMID:24451042|PMID:24458522|PMID:24803665|PMID:24935154|PMID:25156961|PMID:25337068|PMID:25741868|PMID:25741869|PMID:25804457|PMID:25862627|PMID:26084119|PMID:26242988|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26817465|PMID:27038324|PMID:27104176|PMID:27993330|PMID:28328117|PMID:28492532|PMID:28912153|PMID:29493581|PMID:29907801|PMID:30055033|PMID:30311386|PMID:30417923|PMID:30692697|PMID:31219622|PMID:31560489|PMID:32164556|PMID:32371413|PMID:32901917|PMID:34008892|PMID:37600658 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:14291 Noonan syndrome with multiple lentigines ISO RGD:731746 D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: LENTIGINOSIS, CARDIOMYOPATHIC | 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:10616841|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:15024725|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:21628937|PMID:21677813|PMID:21747628|PMID:21757836|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:22427542|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:23001123|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:24938718|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 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:14291 Noonan syndrome with multiple lentigines ISO RGD:731746 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: LENTIGINOSIS, CARDIOMYOPATHIC | 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:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12960218|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14982869|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15240615|PMID:15248152|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:15948193|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16053901|PMID:16115145|PMID:16124853|PMID:16166557|PMID:16263833|PMID:16338218|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16498234|PMID:16518851|PMID:16523510|PMID:16557282|PMID:16638574|PMID:16643459|PMID:1672296|PMID:16733669|PMID:16804314|PMID:16892325|PMID:16987887|PMID:16990350|PMID:17020470|PMID:17177198|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17453145|PMID:17497712|PMID:17546245|PMID:17641779|PMID:17661820|PMID:17697839|PMID:17875892|PMID:17910045|PMID:17927788|PMID:17935252|PMID:17972951|PMID:18080325|PMID:18241070|PMID:18331608|PMID:18372317|PMID:18373317|PMID:18454468|PMID:18470943|PMID:18505544|PMID:18562489|PMID:18678287|PMID:18701506|PMID:18759865|PMID:18849586|PMID:18854871|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19063751|PMID:19077116|PMID:19120036|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19260062|PMID:19273734|PMID:19582499|PMID:19621452|PMID:19651601|PMID:19659470|PMID:19681119|PMID:19706403|PMID:19768645|PMID:19795160|PMID:19825837|PMID:19864201|PMID:20030748|PMID:20186801|PMID:20237506|PMID:20301303|PMID:20301557|PMID:20301772|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:20543023|PMID:2057894|PMID:20718194|PMID:20883402|PMID:20954246|PMID:21106241|PMID:21204800|PMID:21321969|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21396583|PMID:21407260|PMID:21533187|PMID:21590266|PMID:21677813|PMID:21784453|PMID:21803945|PMID:21901340|PMID:21910226|PMID:21910245|PMID:21934682|PMID:22058153|PMID:22097954|PMID:22142829|PMID:22190897|PMID:22411627|PMID:22420426|PMID:22465605|PMID:22528600|PMID:22551697|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22848035|PMID:22923420|PMID:23312806|PMID:23317994|PMID:23321623|PMID:23446178|PMID:23457302|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23726368|PMID:23756559|PMID:23771920|PMID:23799168|PMID:23813970|PMID:23817572|PMID:23825065|PMID:23832011|PMID:23957426|PMID:23996481|PMID:24033266|PMID:24037001|PMID:24039098|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24436047|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24767283|PMID:24775816|PMID:24790373|PMID:24803665|PMID:24891296|PMID:24935154|PMID:24939587|PMID:25097206|PMID:25156961|PMID:25231023|PMID:25337068|PMID:25359717|PMID:25395418|PMID:25425531|PMID:25500235|PMID:25544017|PMID:25595571|PMID:25612910|PMID:2564168|PMID:25695693|PMID:25708222|PMID:25724491|PMID:2572450|PMID:25741868|PMID:25741869|PMID:25862627|PMID:25884655|PMID:25914815|PMID:25917897|PMID:25937001|PMID:26084119|PMID:26138366|PMID:26242988|PMID:26286251|PMID:26337637|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26633542|PMID:26742426|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26918529|PMID:27030275|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27153395|PMID:27168466|PMID:27238887|PMID:27259537|PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27659786|PMID:27876779|PMID:27959697|PMID:27993330|PMID:28051113|PMID:28074573|PMID:28098151|PMID:28125078|PMID:28328117|PMID:28483241|PMID:28492532|PMID:28650561|PMID:28681392|PMID:28748642|PMID:28911804|PMID:28912153|PMID:28921562|PMID:28966033|PMID:28973083|PMID:28991257|PMID:29057136|PMID:29212898|PMID:29263817|PMID:29300386|PMID:29346770|PMID:29356064|PMID:29493581|PMID:29602897|PMID:29625052|PMID:29693080|PMID:29758562|PMID:29763623|PMID:29907801|PMID:29988639|PMID:30025578|PMID:30050098 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:14291 Noonan syndrome with multiple lentigines ISO RGD:731746 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: LENTIGINOSIS, CARDIOMYOPATHIC | 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:30055033|PMID:30105547|PMID:30311386|PMID:30325180|PMID:30375388|PMID:30417923|PMID:30455982|PMID:30515541|PMID:30541462|PMID:30577886|PMID:30602027|PMID:30692697|PMID:30732632|PMID:30784236|PMID:30868567|PMID:30896080|PMID:30919686|PMID:31040167|PMID:31219622|PMID:31259454|PMID:31324109|PMID:31370276|PMID:31560489|PMID:31827275|PMID:31941532|PMID:32164556|PMID:32233106|PMID:32368696|PMID:32371413|PMID:32561839|PMID:32565546|PMID:32573669|PMID:32668031|PMID:32719394|PMID:32737134|PMID:3274644|PMID:32746448|PMID:32901917|PMID:33300679|PMID:33318624|PMID:33568805|PMID:33726816|PMID:33794220|PMID:33811550|PMID:33850299|PMID:34006472|PMID:34008892|PMID:34143244|PMID:34166060|PMID:34303558|PMID:34346503|PMID:34358384|PMID:34411415|PMID:34704406|PMID:34782754|PMID:34850017|PMID:34988410|PMID:35050212|PMID:35101336|PMID:35248088|PMID:35325944|PMID:35396703|PMID:35697228|PMID:35858754|PMID:35885957|PMID:35979676|PMID:36304179|PMID:36349709|PMID:36496429|PMID:36567979|PMID:37302266|PMID:37923938|PMID:38374194|PMID:38413718|PMID:38515811|PMID:38540404|PMID:39392019|PMID:39596579|PMID:39669259|PMID:40225944|PMID:9491886|PMID:9751050 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:1432 blindness ISO RGD:731746 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Blindness PMID:11704759|PMID:11992261|PMID:12717436|PMID:15928039|PMID:16263833|PMID:16377799|PMID:18470943|PMID:18562489|PMID:19795160|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30325180|PMID:33726816|PMID:35325944 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:14566 disease of cellular proliferation ISO RGD:731746 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Neoplasm PMID:11704759|PMID:11992261|PMID:12717436|PMID:12960218|PMID:15001945|PMID:15248152|PMID:15723289|PMID:15761018|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16124853|PMID:16358218|PMID:16377799|PMID:16804314|PMID:17020470|PMID:17661820|PMID:18678287|PMID:18854871|PMID:19020799|PMID:19077116|PMID:20718194|PMID:21340158|PMID:21533187|PMID:22190897|PMID:22465605|PMID:22781091|PMID:23726368|PMID:24033266|PMID:24451042|PMID:24628801|PMID:24935154|PMID:25595571|PMID:25741868|PMID:25741869|PMID:26467025|PMID:26817465|PMID:26822237|PMID:28492532|PMID:34850017|PMID:34988410|PMID:35101336|PMID:38540404|PMID:39596579 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:1459 hypothyroidism ISO RGD:731746 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Hypothyroidism PMID:11992261|PMID:12717436|PMID:15121796|PMID:15389709|PMID:15689434|PMID:15996221|PMID:16124853|PMID:16358218|PMID:16377799|PMID:16804314|PMID:17020470|PMID:17339163|PMID:17453145|PMID:18241070|PMID:18470943|PMID:18678287|PMID:18854871|PMID:19020799|PMID:19120036|PMID:20301303|PMID:20301557|PMID:23771920|PMID:24033266|PMID:24183200|PMID:24718990|PMID:24935154|PMID:25741868|PMID:25937001|PMID:26918529|PMID:27521173|PMID:28492532|PMID:29263817|PMID:29602897|PMID:30105547|PMID:30417923|PMID:30732632|PMID:30896080|PMID:31259454|PMID:31560489|PMID:32164556|PMID:32565546|PMID:3274644|PMID:32746448|PMID:33300679|PMID:33318624|PMID:35325944|PMID:36304179|PMID:38540404 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:1588 thrombocytopenia ISO RGD:731746 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:11992261|PMID:12161469|PMID:12717436|PMID:14644997|PMID:14676626|PMID:15009076|PMID:15240615|PMID:15385933|PMID:15520399|PMID:15539800|PMID:15690106|PMID:15723289|PMID:15725481|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15948193|PMID:15987685|PMID:16115145|PMID:16358218|PMID:16377799|PMID:16733669|PMID:17020470|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17546245|PMID:17910045|PMID:17972951|PMID:18241070|PMID:18331608|PMID:18454468|PMID:18505544|PMID:19063751|PMID:19077116|PMID:19273734|PMID:19582499|PMID:20237506|PMID:20301557|PMID:20383758|PMID:2057894|PMID:20954246|PMID:21677813|PMID:21803945|PMID:21910226|PMID:22058153|PMID:22190897|PMID:22465605|PMID:22781091|PMID:23446178|PMID:23673659|PMID:23832011|PMID:24033266|PMID:24718990|PMID:24935154|PMID:25097206|PMID:25359717|PMID:25708222|PMID:25724491|PMID:25741868|PMID:26286251|PMID:26742426|PMID:28492532|PMID:28973083|PMID:29493581|PMID:30732632|PMID:32164556|PMID:35050212 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:1657 ventricular septal defect ISO RGD:731746 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Ventricular septal defect PMID:11704759|PMID:11992261|PMID:12161469|PMID:12325025|PMID:12634870|PMID:12717436|PMID:12960218|PMID:14644997|PMID:15001945|PMID:15121796|PMID:15248152|PMID:15389709|PMID:15723289|PMID:15761018|PMID:15834506|PMID:15928039|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16124853|PMID:16358218|PMID:16377799|PMID:16498234|PMID:16804314|PMID:17020470|PMID:17453145|PMID:17497712|PMID:17661820|PMID:18241070|PMID:18678287|PMID:18854871|PMID:19020799|PMID:19077116|PMID:19125092|PMID:19260062|PMID:19621452|PMID:20030748|PMID:20301303|PMID:20301557|PMID:20718194|PMID:21204800|PMID:21340158|PMID:21407260|PMID:21533187|PMID:21590266|PMID:22190897|PMID:22420426|PMID:22465605|PMID:22551697|PMID:22711529|PMID:22781091|PMID:23624134|PMID:23726368|PMID:23771920|PMID:23817572|PMID:24033266|PMID:24037001|PMID:24219368|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24803665|PMID:24935154|PMID:25156961|PMID:25337068|PMID:25595571|PMID:25741868|PMID:25741869|PMID:25862627|PMID:25937001|PMID:26084119|PMID:26242988|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26817465|PMID:26822237|PMID:26918529|PMID:27038324|PMID:27104176|PMID:27993330|PMID:28328117|PMID:28492532|PMID:28912153|PMID:29263817|PMID:29493581|PMID:29602897|PMID:29907801|PMID:30055033|PMID:30105547|PMID:30311386|PMID:30417923|PMID:30692697|PMID:30732632|PMID:30896080|PMID:31219622|PMID:31259454|PMID:31560489|PMID:32164556|PMID:32371413|PMID:3274644|PMID:32746448|PMID:32901917|PMID:33318624|PMID:34008892|PMID:34850017|PMID:34988410|PMID:35101336|PMID:35325944|PMID:38540404|PMID:39596579|PMID:9751050 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:1682 congenital heart disease ISO RGD:731746 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:11704759|PMID:11992261|PMID:12161469|PMID:12325025|PMID:12634870|PMID:12717436|PMID:12960218|PMID:14644997|PMID:15001945|PMID:15248152|PMID:15723289|PMID:15761018|PMID:15834506|PMID:15928039|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16124853|PMID:16358218|PMID:16377799|PMID:16498234|PMID:16804314|PMID:17020470|PMID:17497712|PMID:17661820|PMID:18678287|PMID:18759865|PMID:18854871|PMID:19020799|PMID:19077116|PMID:19621452|PMID:20301303|PMID:20718194|PMID:21340158|PMID:21407260|PMID:21533187|PMID:22190897|PMID:22420426|PMID:22465605|PMID:22711529|PMID:22781091|PMID:23624134|PMID:23726368|PMID:23771920|PMID:23817572|PMID:24033266|PMID:24037001|PMID:24219368|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24803665|PMID:24935154|PMID:25156961|PMID:25337068|PMID:25595571|PMID:25741868|PMID:25741869|PMID:25862627|PMID:26084119|PMID:26242988|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26817465|PMID:26822237|PMID:27038324|PMID:27104176|PMID:27993330|PMID:28328117|PMID:28492532|PMID:28912153|PMID:28921562|PMID:28991257|PMID:29057136|PMID:29493581|PMID:29907801|PMID:30055033|PMID:30311386|PMID:30417923|PMID:30692697|PMID:31219622|PMID:31560489|PMID:32164556|PMID:32371413|PMID:32901917|PMID:33318624|PMID:34008892|PMID:34850017|PMID:34988410|PMID:35101336|PMID:38540404|PMID:39596579 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:178 vascular disease ISO RGD:731746 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Vascular disorder PMID:11992261|PMID:12161469|PMID:12717436|PMID:14644997|PMID:14676626|PMID:15009076|PMID:15240615|PMID:15385933|PMID:15539800|PMID:15723289|PMID:15725481|PMID:15834506|PMID:15842656|PMID:15928039|PMID:15948193|PMID:15987685|PMID:16115145|PMID:16358218|PMID:16377799|PMID:17020470|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17546245|PMID:17910045|PMID:17972951|PMID:18331608|PMID:18454468|PMID:19063751|PMID:20237506|PMID:20383758|PMID:22465605|PMID:23446178|PMID:23832011|PMID:24033266|PMID:24718990|PMID:25097206|PMID:25741868|PMID:26286251|PMID:28492532|PMID:29493581|PMID:32164556 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:1826 epilepsy ISO RGD:731746 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Seizure PMID:11992261|PMID:21365683|PMID:21533187|PMID:24033266|PMID:24935154|PMID:25741868|PMID:25862627|PMID:27353043|PMID:28074573|PMID:28492532|PMID:29493581|PMID:29758562|PMID:30602027|PMID:32233106|PMID:32719394|PMID:34006472|PMID:35396703|PMID:9491886 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:1882 atrial heart septal defect ISO RGD:731746 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:11992261|PMID:12634870|PMID:15001945|PMID:15956085|PMID:16358218|PMID:16804314|PMID:18678287|PMID:19077116|PMID:19125092|PMID:19260062|PMID:20030748|PMID:20301303|PMID:21204800|PMID:21533187|PMID:21590266|PMID:22465605|PMID:22551697|PMID:24033266|PMID:24935154|PMID:25741868|PMID:26918529|PMID:28492532|PMID:29493581|PMID:9751050 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:1891 optic nerve disease ISO RGD:731746 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Abnormal optic nerve morphology PMID:24451042|PMID:25741868|PMID:28492532|PMID:34308104 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:1909 melanoma ISO RGD:731746 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Melanoma PMID:25741868|PMID:28492532 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:1929 supravalvular aortic stenosis ISO RGD:731746 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Supravalvar aortic stenosis PMID:11704759|PMID:11992261|PMID:12717436|PMID:12960218|PMID:15001945|PMID:15248152|PMID:15723289|PMID:15761018|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16124853|PMID:16358218|PMID:16377799|PMID:16804314|PMID:17020470|PMID:17661820|PMID:18678287|PMID:18854871|PMID:19020799|PMID:19077116|PMID:20718194|PMID:21340158|PMID:21533187|PMID:22190897|PMID:22465605|PMID:22781091|PMID:23726368|PMID:24033266|PMID:24451042|PMID:24628801|PMID:24935154|PMID:25595571|PMID:25741868|PMID:25741869|PMID:26467025|PMID:26817465|PMID:26822237|PMID:28492532|PMID:34850017|PMID:34988410|PMID:35101336|PMID:38540404|PMID:39596579 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:1969 cerebral palsy ISO RGD:731746 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:11704759|PMID:11992261|PMID:12717436|PMID:12960218|PMID:15001945|PMID:15248152|PMID:15723289|PMID:15761018|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16124853|PMID:16358218|PMID:16377799|PMID:16804314|PMID:17020470|PMID:17661820|PMID:18678287|PMID:18854871|PMID:19020799|PMID:19077116|PMID:20718194|PMID:21340158|PMID:21533187|PMID:22190897|PMID:22465605|PMID:22781091|PMID:23726368|PMID:24033266|PMID:24451042|PMID:24628801|PMID:24935154|PMID:25595571|PMID:25741868|PMID:25741869|PMID:26467025|PMID:26817465|PMID:26822237|PMID:28492532|PMID:34850017|PMID:34988410|PMID:35101336|PMID:38540404|PMID:39596579 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:2030 anxiety disorder ISO RGD:731746 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Anxiety PMID:24033266|PMID:24451042|PMID:25741868|PMID:28492532|PMID:29696744|PMID:33726816|PMID:34136434|PMID:40127276 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:2121 ectodermal dysplasia ISO RGD:731746 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia PMID:11992261|PMID:21365683|PMID:21533187|PMID:24033266|PMID:24935154|PMID:25741868|PMID:25862627|PMID:27353043|PMID:28074573|PMID:28492532|PMID:29493581|PMID:29758562|PMID:30602027|PMID:32233106|PMID:32719394|PMID:34006472|PMID:35396703|PMID:9491886 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:2355 anemia ISO RGD:731746 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Anemia PMID:25741868|PMID:28492532|PMID:37847107 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:2725 capillary hemangioma ISO RGD:731746 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Capillary hemangioma PMID:11704759|PMID:11992261|PMID:12161469|PMID:12325025|PMID:12634870|PMID:12960218|PMID:14644997|PMID:15001945|PMID:15834506|PMID:15928039|PMID:16498234|PMID:17497712|PMID:19077116|PMID:19621452|PMID:20301303|PMID:21407260|PMID:21533187|PMID:22420426|PMID:22465605|PMID:22711529|PMID:23624134|PMID:23771920|PMID:23817572|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:27993330|PMID:28328117|PMID:28492532|PMID:28912153|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:2843 long QT syndrome ISO RGD:731746 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Congenital 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:3081 cystic lymphangioma ISO RGD:731746 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Cystic hygroma PMID:11992261|PMID:12634870|PMID:16358218|PMID:23321623|PMID:25331952|PMID:25741868|PMID:30266093|PMID:32627857|PMID:34358384 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:3138 acanthosis nigricans ISO RGD:731746 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Acanthosis nigricans PMID:24451042|PMID:25741868|PMID:28492532|PMID:33726816|PMID:34136434|PMID:40127276 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:3246 embryonal rhabdomyosarcoma ISO RGD:731746 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma | ClinVar Annotator: match by term: RHABDOMYOSARCOMA, EMBRYONAL PMID:11992261|PMID:14644997|PMID:15385933|PMID:15389709|PMID:15470362|PMID:15520399|PMID:15690106|PMID:15710330|PMID:15834506|PMID:15889278|PMID:15948193|PMID:16377799|PMID:16518851|PMID:17972951|PMID:18223690|PMID:18470943|PMID:18759865|PMID:19047918|PMID:19582499|PMID:19659470|PMID:19681119|PMID:20301557|PMID:20493809|PMID:21465649|PMID:21533187|PMID:21784453|PMID:21803945|PMID:21910226|PMID:22058153|PMID:22142829|PMID:22190897|PMID:22465605|PMID:22781091|PMID:23312806|PMID:23321623|PMID:23799168|PMID:23817572|PMID:24033266|PMID:24150203|PMID:24436047|PMID:24718990|PMID:24775816|PMID:24790373|PMID:24935154|PMID:24939587|PMID:25097206|PMID:25395418|PMID:25741868|PMID:26138366|PMID:26817465|PMID:26918529|PMID:27030275|PMID:27069254|PMID:27276561|PMID:27993330|PMID:28125078|PMID:28483241|PMID:28492532|PMID:28912153|PMID:28966033|PMID:29763623|PMID:29907801|PMID:30018082|PMID:30097824|PMID:30311386|PMID:30732632|PMID:30919686|PMID:31560489|PMID:32164789|PMID:32188694|PMID:32573669|PMID:32806529|PMID:33318624|PMID:34166060|PMID:34704406|PMID:35248088|PMID:35697228|PMID:35885957|PMID:35979676|PMID:36304179|PMID:37302266|PMID:38515811|PMID:39484914 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:3275 thymoma ISO RGD:731746 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:3362 coronary aneurysm ISO RGD:731746 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Coronary aneurysm PMID:11704759|PMID:11992261|PMID:12717436|PMID:12960218|PMID:15001945|PMID:15248152|PMID:15723289|PMID:15761018|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16124853|PMID:16358218|PMID:16377799|PMID:16804314|PMID:17020470|PMID:17661820|PMID:18678287|PMID:18854871|PMID:19020799|PMID:19077116|PMID:20718194|PMID:21340158|PMID:21533187|PMID:22190897|PMID:22465605|PMID:22781091|PMID:23726368|PMID:24033266|PMID:24451042|PMID:24628801|PMID:24935154|PMID:25595571|PMID:25741868|PMID:25741869|PMID:26467025|PMID:26817465|PMID:26822237|PMID:28492532|PMID:34850017|PMID:34988410|PMID:35101336|PMID:38540404|PMID:39596579 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:3369 Ewing sarcoma ISO RGD:731746 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ewing sarcoma PMID:25741868 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:3490 Noonan syndrome ISO RGD:731746 D RGD:8554872 20250506 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: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:25804457|PMID:25862627|PMID:25884655|PMID:25912702|PMID:25914815|PMID:25917897|PMID:25937001|PMID:26041598|PMID:26084119|PMID:26206283|PMID:26242988|PMID:26286251|PMID:26337637|PMID:26372199|PMID:26377839|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26527198|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:27479907|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:28117207|PMID:28125078|PMID:28135719|PMID:28191889|PMID:28295036|PMID:28363362|PMID:28483241|PMID:28492532|PMID:28561207|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:29222009|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:30459321|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:31836589|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:33258285|PMID:33258288|PMID:33289110|PMID:33300679|PMID:33318624|PMID:33473208|PMID:33568805|PMID:33619735|PMID:33726816|PMID:33794220|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: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:39434542|PMID:39596579|PMID:4746100|PMID:9295268|PMID:9326927|PMID:9491886|PMID:9536098|PMID:9751050 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:3490 Noonan syndrome ISO RGD:731746 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: NOONAN 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:000037664|PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12960218|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14974085|PMID:14982869|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15211660|PMID:15240615|PMID:15248152|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:15948193|PMID:15951301|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16053901|PMID:16115145|PMID:16124853|PMID:16166557|PMID:16263833|PMID:16338218|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16467864|PMID:16498234|PMID:16518851|PMID:16523510|PMID:16557282|PMID:16631468|PMID:16638574|PMID:16643459|PMID:1672296|PMID:16733669|PMID:16804314|PMID:16830086|PMID:16892325|PMID:16987887|PMID:16990350|PMID:17020470|PMID:17053061|PMID:17177198|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17453145|PMID:17497712|PMID:17546245|PMID:17576681|PMID:17641779|PMID:17661820|PMID:17875892|PMID:17910045|PMID:17927788|PMID:17935252|PMID:17942397|PMID:17972951|PMID:18080325|PMID:18223690|PMID:18241070|PMID:18286234|PMID:18328949|PMID:18331608|PMID:18372317|PMID:18373317|PMID:18454468|PMID:18470943|PMID:18505544|PMID:18562489|PMID:18678287|PMID:18701506|PMID:18759865|PMID:18849586|PMID:18854871|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19063751|PMID:19077116|PMID:19120036|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19260062|PMID:19273734|PMID:19506109|PMID:19509418|PMID:19582499|PMID:19621452|PMID:19651601|PMID:19659470|PMID:19681119|PMID:19706403|PMID:19737548|PMID:19768645|PMID:19795160|PMID:19825837|PMID:19864201|PMID:20030748|PMID:20112233|PMID:20186801|PMID:20237506|PMID:20301303|PMID:20301557|PMID:20301772|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:20543023|PMID:2057894|PMID:20578946|PMID:20718194|PMID:20852937|PMID:20883402|PMID:20954246|PMID:21106241|PMID:21204800|PMID:21248739|PMID:21321969|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21396583|PMID:21407260|PMID:21465649|PMID:21533187|PMID:21590266|PMID:21677813|PMID:21680795|PMID:21784453|PMID:21803945|PMID:21901340|PMID:21910226|PMID:21910245|PMID:21930766|PMID:21934682|PMID:22058153|PMID:22097954|PMID:22131879|PMID:22142829|PMID:22190897|PMID:22253195|PMID:22411627|PMID:22420426|PMID:22465605|PMID:22528600|PMID:22551697|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22848035|PMID:22923420|PMID:22959829|PMID:23312806|PMID:23317994|PMID:23321623|PMID:23446178|PMID:23457302|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:24150203|PMID:24183200|PMID:24219368|PMID:24436047|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24767283|PMID:24775816|PMID:24790373|PMID:24803665|PMID:24821303|PMID:24891296|PMID:24896146|PMID:24931631|PMID:24935154|PMID:24939587|PMID:25039348|PMID:25097206|PMID:25156961|PMID:25231023|PMID:25253770|PMID:25337068|PMID:25359717|PMID:25395418|PMID:25425531|PMID:25500235|PMID:25544017|PMID:25595571|PMID:25612910|PMID:2564168|PMID:25695693|PMID:25708222|PMID:25724491|PMID:2572450|PMID:25741868|PMID:25741869|PMID:25804457|PMID:25862627|PMID:25884655|PMID:25914815|PMID:25917897|PMID:25937001|PMID:26084119|PMID:26138366|PMID:26242988|PMID:26286251|PMID:26337637|PMID:26424407|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26619011|PMID:26633542|PMID:26742426|PMID:26755576|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26918529|PMID:27030275|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27153395|PMID:27168466|PMID:27238887|PMID:27259537|PMID:27276561|PMID:27353043|PMID:27460089|PMID:27484170|PMID:27521173 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:3490 Noonan syndrome ISO RGD:731746 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: NOONAN 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:27562378|PMID:27626068|PMID:27659786|PMID:27683039|PMID:27783593|PMID:27876779|PMID:27884971|PMID:27959697|PMID:27993330|PMID:28051113|PMID:28074573|PMID:28098151|PMID:28125078|PMID:28191889|PMID:28328117|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561|PMID:28681392|PMID:28748642|PMID:28911804|PMID:28912153|PMID:28921562|PMID:28966033|PMID:28973083|PMID:28991257|PMID:29057136|PMID:29212898|PMID:29263817|PMID:29300386|PMID:29346770|PMID:29356064|PMID:29493581|PMID:29568093|PMID:29602897|PMID:29625052|PMID:29693080|PMID:29758562|PMID:29763623|PMID:29907801|PMID:29988639|PMID:30025578|PMID:30050098|PMID:30055033|PMID:30097824|PMID:30105547|PMID:30311386|PMID:30325180|PMID:30375388|PMID:30417923|PMID:30455982|PMID:30515541|PMID:30541462|PMID:30577886|PMID:30602027|PMID:30692697|PMID:30732632|PMID:30784236|PMID:30868567|PMID:30896080|PMID:30919686|PMID:31040167|PMID:31057598|PMID:31219622|PMID:31250151|PMID:31259454|PMID:31263281|PMID:31324109|PMID:31370276|PMID:31560489|PMID:31573083|PMID:31807022|PMID:31827275|PMID:31941532|PMID:32164556|PMID:32164789|PMID:32188694|PMID:32233106|PMID:32368696|PMID:32371413|PMID:32410215|PMID:32561839|PMID:32565546|PMID:32573669|PMID:32668031|PMID:32719394|PMID:32737134|PMID:3274644|PMID:32746448|PMID:32794475|PMID:32806529|PMID:32859279|PMID:32901917|PMID:33128510|PMID:33167018|PMID:33300679|PMID:33318624|PMID:33568805|PMID:33619735|PMID:33726816|PMID:33794220|PMID:33811550|PMID:33850299|PMID:34006472|PMID:34008892|PMID:34136434|PMID:34143244|PMID:34166060|PMID:34184824|PMID:34303558|PMID:34346503|PMID:34358384|PMID:34411415|PMID:34555844|PMID:34589056|PMID:34643321|PMID:34704406|PMID:34782754|PMID:34850017|PMID:34906519|PMID:34988410|PMID:35050212|PMID:35101336|PMID:35248088|PMID:35278234|PMID:35325944|PMID:35396703|PMID:35616356|PMID:35697228|PMID:35769956|PMID:35858754|PMID:35885957|PMID:35979676|PMID:36304179|PMID:36349709|PMID:36373817|PMID:36496429|PMID:36544606|PMID:36567979|PMID:36714562|PMID:37302266|PMID:37600658|PMID:37923938|PMID:38374194|PMID:38413718|PMID:38515811|PMID:38540404|PMID:38572385|PMID:38862387|PMID:39392019|PMID:39484914|PMID:39596579|PMID:39669259|PMID:40127276|PMID:40225944|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 20260616 ClinVar ClinVar Annotator: match by term: Tricuspid regurgitation PMID:11992261|PMID:16263833|PMID:16643459|PMID:1672296|PMID:17020470|PMID:18470943|PMID:18701506|PMID:21407260|PMID:22097954|PMID:22465605|PMID:24039098|PMID:2564168|PMID:2572450|PMID:25741868|PMID:26817465|PMID:27959697|PMID:28492532|PMID:29907801|PMID:30375388 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:4362 cervical cancer ISO RGD:731746 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:731746 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney PMID:25741868|PMID:28492532 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:4851 pilocytic astrocytoma ISO RGD:731746 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Pilocytic astrocytoma PMID:11704759|PMID:11992261|PMID:12161469|PMID:12325025|PMID:12634870|PMID:12717436|PMID:12960218|PMID:14644997|PMID:15001945|PMID:15240615|PMID:15385933|PMID:15710330|PMID:15834506|PMID:15928039|PMID:16358218|PMID:16498234|PMID:16518851|PMID:17020470|PMID:17497712|PMID:17972951|PMID:18223690|PMID:18470943|PMID:18759865|PMID:19020799|PMID:19047918|PMID:19077116|PMID:19179468|PMID:19621452|PMID:19681119|PMID:20301303|PMID:21106241|PMID:21407260|PMID:21465649|PMID:21533187|PMID:21784453|PMID:21901340|PMID:22142829|PMID:22420426|PMID:22465605|PMID:22681964|PMID:22711529|PMID:23321623|PMID:23624134|PMID:23771920|PMID:23817572|PMID:24033266|PMID:24037001|PMID:24183200|PMID:24219368|PMID:24436047|PMID:24451042|PMID:24458522|PMID:24803665|PMID:24935154|PMID:25097206|PMID:25156961|PMID:25337068|PMID:25395418|PMID:25741868|PMID:25741869|PMID:25862627|PMID:26084119|PMID:26138366|PMID:26242988|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26817465|PMID:27030275|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27626068|PMID:27993330|PMID:28098151|PMID:28328117|PMID:28492532|PMID:28912153|PMID:29493581|PMID:29907801|PMID:30055033|PMID:30097824|PMID:30311386|PMID:30417923|PMID:30692697|PMID:30732632|PMID:30868567|PMID:31219622|PMID:31250151|PMID:31560489|PMID:32164556|PMID:32164789|PMID:32188694|PMID:32371413|PMID:32668031|PMID:32806529|PMID:32859279|PMID:32901917|PMID:34008892|PMID:34166060|PMID:34303558|PMID:36349709 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:4947 cholangiocarcinoma ISO RGD:731746 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:5041 esophageal cancer ISO RGD:731746 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 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:5557 testicular germ cell cancer ISO RGD:731746 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Germ cell tumor of testis 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:731746 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Early T cell progenitor acute lymphoblastic leukemia PMID:11992261|PMID:12161469|PMID:15240615|PMID:16358218|PMID:17020470|PMID:18470943|PMID:19020799|PMID:19621452|PMID:21106241|PMID:21784453|PMID:21901340|PMID:22681964|PMID:23321623|PMID:23771920|PMID:23817572|PMID:24183200|PMID:25741868|PMID:27030275|PMID:27993330|PMID:28328117|PMID:28492532|PMID:28912153|PMID:29907801|PMID:30732632|PMID:31219622|PMID:31560489|PMID:32164556|PMID:32668031|PMID:34303558 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:5688 Werner syndrome ISO RGD:731746 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Werner syndrome PMID:25741868|PMID:28074573|PMID:28492532|PMID:28819267|PMID:35396703 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:731746 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:5805 subvalvular aortic stenosis ISO RGD:731746 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Subvalvular aortic stenosis PMID:11992261|PMID:14644997|PMID:15121796|PMID:15385933|PMID:15389709|PMID:15470362|PMID:15710330|PMID:16358218|PMID:16377799|PMID:16518851|PMID:16804314|PMID:17453145|PMID:17972951|PMID:18241070|PMID:18678287|PMID:19020799|PMID:19047918|PMID:19659470|PMID:19681119|PMID:20301557|PMID:20493809|PMID:21533187|PMID:21784453|PMID:22142829|PMID:22190897|PMID:22465605|PMID:22781091|PMID:23321623|PMID:23799168|PMID:24033266|PMID:24436047|PMID:24718990|PMID:24790373|PMID:24935154|PMID:25097206|PMID:25395418|PMID:25741868|PMID:25937001|PMID:26138366|PMID:26918529|PMID:27069254|PMID:27276561|PMID:27993330|PMID:28483241|PMID:28492532|PMID:28912153|PMID:28966033|PMID:29263817|PMID:29602897|PMID:29763623|PMID:29907801|PMID:30105547|PMID:30732632|PMID:30896080|PMID:31259454|PMID:32573669|PMID:3274644|PMID:32746448|PMID:33318624|PMID:34166060|PMID:35325944|PMID:35697228|PMID:35885957|PMID:36304179|PMID:38540404 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:6171 uterine carcinosarcoma ISO RGD:731746 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:630 genetic disease ISO RGD:731746 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:28492532|PMID:29696744 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:6419 tetralogy of Fallot ISO RGD:731746 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Tetralogy of Fallot PMID:11992261|PMID:12717436|PMID:12960218|PMID:15001945|PMID:15987685|PMID:16358218|PMID:16892325|PMID:16990350|PMID:17661820|PMID:18372317|PMID:21590266|PMID:22190897|PMID:22781091|PMID:23584145|PMID:24033266|PMID:25425531|PMID:25741868|PMID:25862627|PMID:27993330|PMID:28483241|PMID:28492532|PMID:28912153|PMID:28966033|PMID:29300386|PMID:29763623|PMID:29988639|PMID:30050098|PMID:30417923|PMID:31560489|PMID:35697228 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:6420 pulmonary valve stenosis ISO RGD:731746 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Pulmonic stenosis PMID:11704759|PMID:11992261|PMID:12161469|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12960218|PMID:14644997|PMID:14676626|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15240615|PMID:15248152|PMID:15385933|PMID:15389709|PMID:15539800|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15928039|PMID:15948193|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16115145|PMID:16124853|PMID:16166557|PMID:16358218|PMID:16377799|PMID:16498234|PMID:16643459|PMID:16804314|PMID:16830086|PMID:16892325|PMID:16990350|PMID:17020470|PMID:17177198|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17453145|PMID:17497712|PMID:17546245|PMID:17641779|PMID:17661820|PMID:17910045|PMID:17972951|PMID:18241070|PMID:18331608|PMID:18372317|PMID:18454468|PMID:18470943|PMID:18678287|PMID:18854871|PMID:19017799|PMID:19020799|PMID:19063751|PMID:19077116|PMID:19125092|PMID:19260062|PMID:19621452|PMID:19706403|PMID:20030748|PMID:20237506|PMID:20301303|PMID:20301557|PMID:20308328|PMID:20383758|PMID:20718194|PMID:21106241|PMID:21204800|PMID:21340158|PMID:21407260|PMID:21533187|PMID:21590266|PMID:21784453|PMID:21901340|PMID:22190897|PMID:22420426|PMID:22465605|PMID:22551697|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22848035|PMID:23321623|PMID:23446178|PMID:23584145|PMID:23624134|PMID:23726368|PMID:23771920|PMID:23817572|PMID:23832011|PMID:24033266|PMID:24037001|PMID:24039098|PMID:24183200|PMID:24219368|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24803665|PMID:24935154|PMID:25097206|PMID:25156961|PMID:25337068|PMID:25425531|PMID:25595571|PMID:25741868|PMID:25741869|PMID:25862627|PMID:25937001|PMID:26084119|PMID:26242988|PMID:26286251|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26817465|PMID:26822237|PMID:26918529|PMID:27030275|PMID:27038324|PMID:27104176|PMID:27993330|PMID:28328117|PMID:28483241|PMID:28492532|PMID:28912153|PMID:28966033|PMID:29263817|PMID:29300386|PMID:29493581|PMID:29602897|PMID:29763623|PMID:29907801|PMID:29988639|PMID:30050098|PMID:30055033|PMID:30105547|PMID:30311386|PMID:30417923|PMID:30692697|PMID:30732632|PMID:30896080|PMID:31219622|PMID:31259454|PMID:31560489|PMID:32164556|PMID:32371413|PMID:32668031|PMID:3274644|PMID:32746448|PMID:32901917|PMID:33318624|PMID:34008892|PMID:34303558|PMID:34643321|PMID:34850017|PMID:34988410|PMID:35101336|PMID:35325944|PMID:35697228|PMID:36349709|PMID:36496429|PMID:38374194|PMID:38540404|PMID:39392019|PMID:39596579|PMID:9751050 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:684 hepatocellular carcinoma ISO RGD:731746 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 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 20260609 ClinVar ClinVar Annotator: match by term: Specific learning disability PMID:11992261|PMID:12717436|PMID:15689434|PMID:15996221|PMID:16124853|PMID:16358218|PMID:16377799|PMID:17020470|PMID:17339163|PMID:18470943|PMID:18678287|PMID:18854871|PMID:19120036|PMID:20301303|PMID:23771920|PMID:24033266|PMID:24183200|PMID:25741868|PMID:26918529|PMID:27521173|PMID:28492532|PMID:30417923|PMID:31560489|PMID:32164556|PMID:32565546|PMID:33300679|PMID:36304179 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:9000006 Supraventricular Tachycardia ISO RGD:731746 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Supraventricular tachycardia PMID:11992261|PMID:16263833|PMID:16643459|PMID:1672296|PMID:17020470|PMID:18470943|PMID:18701506|PMID:21407260|PMID:22097954|PMID:22465605|PMID:24039098|PMID:2564168|PMID:2572450|PMID:25741868|PMID:26817465|PMID:27959697|PMID:28492532|PMID:29907801|PMID:30375388 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9000053 Headache ISO RGD:731746 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Headache PMID:11704759|PMID:11992261|PMID:12717436|PMID:12960218|PMID:15001945|PMID:15248152|PMID:15723289|PMID:15761018|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16124853|PMID:16358218|PMID:16377799|PMID:16804314|PMID:17020470|PMID:17661820|PMID:18678287|PMID:18854871|PMID:19020799|PMID:19077116|PMID:20718194|PMID:21340158|PMID:21533187|PMID:22190897|PMID:22465605|PMID:22781091|PMID:23726368|PMID:24033266|PMID:24451042|PMID:24628801|PMID:24935154|PMID:25595571|PMID:25741868|PMID:25741869|PMID:26467025|PMID:26817465|PMID:26822237|PMID:28492532|PMID:34850017|PMID:34988410|PMID:35101336|PMID:38540404|PMID:39596579 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:731746 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:15520399|PMID:15690106|PMID:15889278|PMID:16358218|PMID:16733669|PMID:18241070|PMID:18505544|PMID:19077116|PMID:19273734|PMID:19582499|PMID:20301557|PMID:2057894|PMID:20954246|PMID:21677813|PMID:21803945|PMID:21910226|PMID:22058153|PMID:22190897|PMID:22781091|PMID:23673659|PMID:24033266|PMID:24935154|PMID:25359717|PMID:25708222|PMID:25724491|PMID:25741868|PMID:26742426|PMID:28492532|PMID:28973083|PMID:30732632|PMID:35050212 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9000197 Edema ISO RGD:731746 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Edema PMID:11992261|PMID:12161469|PMID:12717436|PMID:14644997|PMID:14676626|PMID:15009076|PMID:15240615|PMID:15385933|PMID:15539800|PMID:15723289|PMID:15725481|PMID:15834506|PMID:15842656|PMID:15928039|PMID:15948193|PMID:15987685|PMID:16115145|PMID:16358218|PMID:16377799|PMID:17020470|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17546245|PMID:17910045|PMID:17972951|PMID:18331608|PMID:18454468|PMID:19063751|PMID:20237506|PMID:20383758|PMID:22465605|PMID:23446178|PMID:23832011|PMID:24033266|PMID:24718990|PMID:25097206|PMID:25741868|PMID:26286251|PMID:28492532|PMID:29493581|PMID:32164556 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9000323 Biventricular Hypertrophy ISO RGD:731746 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Biventricular hypertrophy PMID:15121796|PMID:15389709|PMID:16358218|PMID:16377799|PMID:16804314|PMID:17453145|PMID:18241070|PMID:18678287|PMID:19020799|PMID:20301557|PMID:24033266|PMID:24718990|PMID:24935154|PMID:25741868|PMID:25937001|PMID:28492532|PMID:29263817|PMID:29602897|PMID:30105547|PMID:30732632|PMID:30896080|PMID:31259454|PMID:3274644|PMID:32746448|PMID:33318624|PMID:35325944|PMID:38540404 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9000343 Vision Disorders ISO RGD:731746 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Visual impairment PMID:24451042|PMID:25741868|PMID:28492532|PMID:33726816|PMID:34136434|PMID:40127276 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9000414 Horner Syndrome, Congenital ISO RGD:731746 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Congenital Horner syndrome PMID:11992261|PMID:14644997|PMID:15121796|PMID:15385933|PMID:15710330|PMID:15928039|PMID:16369799|PMID:16523510|PMID:16987887|PMID:17339163|PMID:17875892|PMID:17972951|PMID:18241070|PMID:18505544|PMID:19047918|PMID:19179468|PMID:19768645|PMID:20301557|PMID:21533187|PMID:22190897|PMID:24033266|PMID:24451042|PMID:24803665|PMID:24891296|PMID:24935154|PMID:25097206|PMID:25395418|PMID:25544017|PMID:25741868|PMID:26918529|PMID:27069254|PMID:27276561|PMID:27562378|PMID:27993330|PMID:28492532|PMID:28912153|PMID:28966033|PMID:29356064|PMID:29493581|PMID:29693080|PMID:29763623|PMID:30417923|PMID:30732632|PMID:31219622|PMID:31370276|PMID:32561839|PMID:32746448|PMID:33318624|PMID:34008892|PMID:35697228|PMID:35979676|PMID:36567979|PMID:39669259|PMID:40225944 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9000590 Dyspnea ISO RGD:731746 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Dyspnea PMID:11704759|PMID:11992261|PMID:12161469|PMID:12325025|PMID:12634870|PMID:12960218|PMID:14644997|PMID:15001945|PMID:15834506|PMID:15928039|PMID:16498234|PMID:17497712|PMID:19077116|PMID:19621452|PMID:20301303|PMID:21407260|PMID:21533187|PMID:22420426|PMID:22465605|PMID:22711529|PMID:23624134|PMID:23771920|PMID:23817572|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:27993330|PMID:28328117|PMID:28492532|PMID:28912153|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:9001031 Retrognathia ISO RGD:731746 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Retrognathia PMID:24033266|PMID:28492532|PMID:29696744 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:9001239 Delayed Puberty ISO RGD:731746 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Delayed puberty PMID:11704759|PMID:11992261|PMID:12161469|PMID:12325025|PMID:12634870|PMID:12960218|PMID:14644997|PMID:15001945|PMID:15834506|PMID:15928039|PMID:16498234|PMID:17497712|PMID:19077116|PMID:19621452|PMID:20301303|PMID:21407260|PMID:21533187|PMID:22420426|PMID:22465605|PMID:22711529|PMID:23624134|PMID:23771920|PMID:23817572|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:27993330|PMID:28328117|PMID:28492532|PMID:28912153|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:9001276 Failure to Thrive ISO RGD:731746 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:11704759|PMID:11992261|PMID:12161469|PMID:12325025|PMID:12634870|PMID:12717436|PMID:12960218|PMID:14644997|PMID:14676626|PMID:15001945|PMID:15009076|PMID:15240615|PMID:15248152|PMID:15385933|PMID:15539800|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15928039|PMID:15948193|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16115145|PMID:16124853|PMID:16358218|PMID:16377799|PMID:16498234|PMID:16804314|PMID:17020470|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17497712|PMID:17546245|PMID:17661820|PMID:17910045|PMID:17972951|PMID:18331608|PMID:18454468|PMID:18678287|PMID:18854871|PMID:19020799|PMID:19063751|PMID:19077116|PMID:19621452|PMID:20237506|PMID:20301303|PMID:20383758|PMID:20718194|PMID:21340158|PMID:21407260|PMID:21533187|PMID:22190897|PMID:22420426|PMID:22465605|PMID:22711529|PMID:22781091|PMID:23446178|PMID:23624134|PMID:23726368|PMID:23771920|PMID:23817572|PMID:23832011|PMID:24033266|PMID:24037001|PMID:24219368|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24803665|PMID:24935154|PMID:25097206|PMID:25156961|PMID:25337068|PMID:25595571|PMID:25741868|PMID:25741869|PMID:25862627|PMID:26084119|PMID:26242988|PMID:26286251|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26817465|PMID:26822237|PMID:27038324|PMID:27104176|PMID:27993330|PMID:28328117|PMID:28492532|PMID:28912153|PMID:29493581|PMID:29907801|PMID:30055033|PMID:30311386|PMID:30417923|PMID:30692697|PMID:31219622|PMID:31560489|PMID:32164556|PMID:32371413|PMID:32901917|PMID:34008892|PMID:34850017|PMID:34988410|PMID:35101336|PMID:38540404|PMID:39596579 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9001510 Funnel Chest ISO RGD:731746 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Pectus excavatum PMID:24033266|PMID:25741868|PMID:28492532|PMID:29696744 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:731746 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Corpus callosum, agenesis of PMID:11992261|PMID:12717436|PMID:12960218|PMID:15001945|PMID:15987685|PMID:16358218|PMID:16892325|PMID:16990350|PMID:17661820|PMID:18372317|PMID:21590266|PMID:22190897|PMID:22781091|PMID:23584145|PMID:24033266|PMID:25425531|PMID:25741868|PMID:25862627|PMID:27993330|PMID:28483241|PMID:28492532|PMID:28912153|PMID:28966033|PMID:29300386|PMID:29763623|PMID:29988639|PMID:30050098|PMID:30417923|PMID:31560489|PMID:35697228 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9002134 Heart Murmurs ISO RGD:731746 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Heart murmur PMID:11704759|PMID:11992261|PMID:12717436|PMID:12960218|PMID:15001945|PMID:15248152|PMID:15723289|PMID:15761018|PMID:15834506|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16124853|PMID:16358218|PMID:16377799|PMID:16804314|PMID:17020470|PMID:17661820|PMID:18678287|PMID:18854871|PMID:19020799|PMID:19077116|PMID:20718194|PMID:20852937|PMID:21340158|PMID:21407260|PMID:21533187|PMID:22190897|PMID:22465605|PMID:22781091|PMID:22959829|PMID:23726368|PMID:23917401|PMID:24033266|PMID:24451042|PMID:24628801|PMID:24935154|PMID:25595571|PMID:25741868|PMID:25741869|PMID:26467025|PMID:26817465|PMID:26822237|PMID:28492532|PMID:28748642|PMID:31560489|PMID:31573083|PMID:34006472|PMID:34850017|PMID:34988410|PMID:35101336|PMID:38540404|PMID:39596579 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:9002278 Metabolic Bone Diseases ISO RGD:731746 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Osteopenia PMID:11704759|PMID:11992261|PMID:12161469|PMID:12325025|PMID:12634870|PMID:12960218|PMID:14644997|PMID:15001945|PMID:15834506|PMID:15928039|PMID:16498234|PMID:17497712|PMID:19077116|PMID:19621452|PMID:20301303|PMID:21407260|PMID:21533187|PMID:22420426|PMID:22465605|PMID:22711529|PMID:23624134|PMID:23771920|PMID:23817572|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:27993330|PMID:28328117|PMID:28492532|PMID:28912153|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:9002453 Cafe-au-Lait Spots ISO RGD:731746 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Cafe-au-lait spot PMID:11992261|PMID:12058348|PMID:12960218|PMID:14644997|PMID:14961557|PMID:15001945|PMID:15121796|PMID:15385933|PMID:15520399|PMID:15710330|PMID:15712196|PMID:16338218|PMID:16358218|PMID:16377799|PMID:16638574|PMID:17927788|PMID:17935252|PMID:17972951|PMID:18372317|PMID:18373317|PMID:18759865|PMID:18849586|PMID:19047918|PMID:19054014|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19825837|PMID:19864201|PMID:20301303|PMID:20301557|PMID:20301772|PMID:20308328|PMID:20493809|PMID:20535210|PMID:20883402|PMID:21365175|PMID:21533187|PMID:21910245|PMID:22190897|PMID:22411627|PMID:22555271|PMID:22585553|PMID:22681964|PMID:23317994|PMID:23457302|PMID:23813970|PMID:24037001|PMID:24451042|PMID:24767283|PMID:24775816|PMID:24935154|PMID:25097206|PMID:25395418|PMID:25544017|PMID:25741868|PMID:25884655|PMID:25917897|PMID:26337637|PMID:27069254|PMID:27238887|PMID:27276561|PMID:27484170|PMID:27659786|PMID:28492532|PMID:28681392|PMID:29346770|PMID:29493581|PMID:30025578|PMID:32164556 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:731746 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology PMID:11704759|PMID:11992261|PMID:12717436|PMID:15928039|PMID:16263833|PMID:16377799|PMID:18470943|PMID:18562489|PMID:19795160|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30325180|PMID:33726816|PMID:35325944 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 20250506 ClinVar ClinVar Annotator: match by term: CBL SYNDROME 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:27479907|PMID:28135719|PMID:28483241|PMID:28492532|PMID:29222009|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:9002916 Hyperphagia ISO RGD:731746 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Polyphagia PMID:24451042|PMID:25741868|PMID:28492532|PMID:33726816|PMID:34136434|PMID:40127276 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9002969 Nevus ISO RGD:731746 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nevus PMID:25741868 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:9003133 Hypertelorism ISO RGD:731746 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:11704759|PMID:11992261|PMID:12161469|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12960218|PMID:14644997|PMID:15001945|PMID:15121796|PMID:15240615|PMID:15248152|PMID:15385933|PMID:15389709|PMID:15470362|PMID:15520399|PMID:15690106|PMID:15710330|PMID:15723289|PMID:15761018|PMID:15834506|PMID:15889278|PMID:15928039|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16124853|PMID:16166557|PMID:16358218|PMID:16377799|PMID:16498234|PMID:16518851|PMID:16643459|PMID:16733669|PMID:16804314|PMID:17020470|PMID:17453145|PMID:17497712|PMID:17641779|PMID:17661820|PMID:17972951|PMID:18241070|PMID:18505544|PMID:18678287|PMID:18854871|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19077116|PMID:19273734|PMID:19582499|PMID:19621452|PMID:19659470|PMID:19681119|PMID:19706403|PMID:20301303|PMID:20301557|PMID:20493809|PMID:2057894|PMID:20718194|PMID:20954246|PMID:21340158|PMID:21407260|PMID:21533187|PMID:21677813|PMID:21784453|PMID:21803945|PMID:21910226|PMID:22058153|PMID:22142829|PMID:22190897|PMID:22420426|PMID:22465605|PMID:22711529|PMID:22781091|PMID:22848035|PMID:23321623|PMID:23624134|PMID:23673659|PMID:23726368|PMID:23771920|PMID:23799168|PMID:23817572|PMID:24033266|PMID:24037001|PMID:24039098|PMID:24219368|PMID:24436047|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24790373|PMID:24803665|PMID:24935154|PMID:25097206|PMID:25156961|PMID:25337068|PMID:25359717|PMID:25395418|PMID:25595571|PMID:25708222|PMID:25724491|PMID:25741868|PMID:25741869|PMID:25862627|PMID:25937001|PMID:26084119|PMID:26138366|PMID:26242988|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26742426|PMID:26817465|PMID:26822237|PMID:26918529|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27276561|PMID:27993330|PMID:28328117|PMID:28483241|PMID:28492532|PMID:28912153|PMID:28966033|PMID:28973083|PMID:29263817|PMID:29493581|PMID:29602897|PMID:29763623|PMID:29907801|PMID:30055033|PMID:30105547|PMID:30311386|PMID:30417923|PMID:30692697|PMID:30732632|PMID:30896080|PMID:31219622|PMID:31259454|PMID:31560489|PMID:32164556|PMID:32371413|PMID:32573669|PMID:3274644|PMID:32746448|PMID:32901917|PMID:33318624|PMID:34008892|PMID:34166060|PMID:34850017|PMID:34988410|PMID:35050212|PMID:35101336|PMID:35325944|PMID:35697228|PMID:35885957|PMID:36304179|PMID:36349709|PMID:36496429|PMID:38374194|PMID:38540404|PMID:39392019|PMID:39596579 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9003145 Nuchal Bleb, Familial ISO RGD:731746 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Fetal cystic hygroma PMID:11704759|PMID:11992261|PMID:12529711|PMID:12634870|PMID:12960218|PMID:14644997|PMID:14961557|PMID:15001945|PMID:15121796|PMID:15240615|PMID:15723289|PMID:15834506|PMID:15928039|PMID:15987685|PMID:16166557|PMID:16358218|PMID:17020470|PMID:17641779|PMID:18470943|PMID:18759865|PMID:19017799|PMID:19020799|PMID:19077116|PMID:19706403|PMID:20301557|PMID:20954246|PMID:21340158|PMID:22528600|PMID:22848035|PMID:23321623|PMID:24033266|PMID:24628801|PMID:24935154|PMID:25331952|PMID:25741868|PMID:25937001|PMID:26742426|PMID:26817465|PMID:28492532|PMID:28921562|PMID:28991257|PMID:29057136|PMID:29493581|PMID:30266093|PMID:31219622|PMID:32164556|PMID:32627857|PMID:33318624|PMID:34008892|PMID:34358384 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9003417 Menorrhagia ISO RGD:731746 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Menorrhagia PMID:11704759|PMID:11992261|PMID:12161469|PMID:12325025|PMID:12634870|PMID:12960218|PMID:14644997|PMID:15001945|PMID:15834506|PMID:15928039|PMID:16498234|PMID:17497712|PMID:19077116|PMID:19621452|PMID:20301303|PMID:21407260|PMID:21533187|PMID:22420426|PMID:22465605|PMID:22711529|PMID:23624134|PMID:23771920|PMID:23817572|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:27993330|PMID:28328117|PMID:28492532|PMID:28912153|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:9003507 Premature Birth ISO RGD:731746 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Premature birth PMID:11704759|PMID:11992261|PMID:12717436|PMID:12960218|PMID:15001945|PMID:15248152|PMID:15723289|PMID:15761018|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16124853|PMID:16358218|PMID:16377799|PMID:16804314|PMID:17020470|PMID:17661820|PMID:18678287|PMID:18854871|PMID:19020799|PMID:19077116|PMID:20718194|PMID:21340158|PMID:21365683|PMID:21533187|PMID:22190897|PMID:22465605|PMID:22781091|PMID:23726368|PMID:24033266|PMID:24451042|PMID:24628801|PMID:24935154|PMID:25595571|PMID:25741868|PMID:25741869|PMID:25862627|PMID:26467025|PMID:26817465|PMID:26822237|PMID:27353043|PMID:28074573|PMID:28492532|PMID:29493581|PMID:29758562|PMID:30602027|PMID:32233106|PMID:32719394|PMID:34006472|PMID:34850017|PMID:34988410|PMID:35101336|PMID:35396703|PMID:38540404|PMID:39596579|PMID:9491886 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9003591 Telecanthus ISO RGD:731746 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Telecanthus PMID:11704759|PMID:11992261|PMID:12161469|PMID:12325025|PMID:12634870|PMID:12960218|PMID:14644997|PMID:15001945|PMID:15834506|PMID:15928039|PMID:16498234|PMID:17497712|PMID:19077116|PMID:19621452|PMID:20301303|PMID:21407260|PMID:21533187|PMID:22420426|PMID:22465605|PMID:22711529|PMID:23624134|PMID:23771920|PMID:23817572|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:27993330|PMID:28328117|PMID:28492532|PMID:28912153|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:9003654 Testicular Germ Cell Tumor ISO RGD:731746 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Germ cell tumor of testis 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9003748 Thumb Deformity ISO RGD:731746 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Thumb deformity PMID:11992261|PMID:12161469|PMID:12717436|PMID:14644997|PMID:14676626|PMID:15009076|PMID:15240615|PMID:15385933|PMID:15539800|PMID:15689434|PMID:15723289|PMID:15725481|PMID:15834506|PMID:15842656|PMID:15928039|PMID:15948193|PMID:15987685|PMID:15996221|PMID:16115145|PMID:16124853|PMID:16358218|PMID:16377799|PMID:17020470|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17546245|PMID:17910045|PMID:17972951|PMID:18331608|PMID:18454468|PMID:18470943|PMID:18678287|PMID:18854871|PMID:19063751|PMID:19120036|PMID:20237506|PMID:20301303|PMID:20383758|PMID:22465605|PMID:23446178|PMID:23771920|PMID:23832011|PMID:24033266|PMID:24183200|PMID:24718990|PMID:25097206|PMID:25741868|PMID:26286251|PMID:26918529|PMID:27521173|PMID:28492532|PMID:29493581|PMID:30417923|PMID:31560489|PMID:32164556|PMID:32565546|PMID:33300679|PMID:36304179 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9003760 Myalgia ISO RGD:731746 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Myalgia PMID:11704759|PMID:11992261|PMID:12161469|PMID:12325025|PMID:12634870|PMID:12960218|PMID:14644997|PMID:15001945|PMID:15834506|PMID:15928039|PMID:16498234|PMID:17497712|PMID:19077116|PMID:19621452|PMID:20301303|PMID:21407260|PMID:21533187|PMID:22420426|PMID:22465605|PMID:22711529|PMID:23624134|PMID:23771920|PMID:23817572|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:27993330|PMID:28328117|PMID:28492532|PMID:28912153|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:9004014 Adducted Thumbs Syndrome ISO RGD:731746 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thumbs, congenital Clasped PMID:11992261|PMID:12717436|PMID:12960218|PMID:15001945|PMID:15987685|PMID:16358218|PMID:16892325|PMID:16990350|PMID:17661820|PMID:18372317|PMID:21590266|PMID:22190897|PMID:22781091|PMID:23584145|PMID:24033266|PMID:25425531|PMID:25741868|PMID:25862627|PMID:27993330|PMID:28483241|PMID:28492532|PMID:28912153|PMID:28966033|PMID:29300386|PMID:29763623|PMID:29988639|PMID:30050098|PMID:30417923|PMID:31560489|PMID:35697228 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731746 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:11992261|PMID:12717436|PMID:12960218|PMID:15001945|PMID:15928039|PMID:16358218|PMID:16377799|PMID:18470943|PMID:18678287|PMID:18758896|PMID:19077116|PMID:19568997|PMID:19737548|PMID:20186801|PMID:21533187|PMID:22465605|PMID:22681964|PMID:23334668|PMID:24033266|PMID:24754368|PMID:24935154|PMID:25097206|PMID:25741868|PMID:25742478|PMID:26918529|PMID:28492532|PMID:29146883|PMID:29907801|PMID:30417923|PMID:31560489|PMID:34008892|PMID:9491886 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:9004538 Hearing Loss ISO RGD:731746 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss PMID:11704759|PMID:11992261|PMID:12161469|PMID:12325025|PMID:12634870|PMID:12717436|PMID:12960218|PMID:14644997|PMID:14982869|PMID:15001945|PMID:15121796|PMID:15385933|PMID:15389709|PMID:15520399|PMID:15690106|PMID:15710330|PMID:15834506|PMID:15889278|PMID:15928039|PMID:15948193|PMID:15985475|PMID:16263833|PMID:16358218|PMID:16377799|PMID:16498234|PMID:16518851|PMID:16643459|PMID:16804314|PMID:17020470|PMID:17053061|PMID:17453145|PMID:17497712|PMID:17546245|PMID:17972951|PMID:18080325|PMID:18241070|PMID:18328949|PMID:18470943|PMID:18562489|PMID:18678287|PMID:19020799|PMID:19047918|PMID:19077116|PMID:19179468|PMID:19582499|PMID:19621452|PMID:19681119|PMID:20186801|PMID:20301303|PMID:20301557|PMID:20543023|PMID:21407260|PMID:21533187|PMID:21803945|PMID:21910226|PMID:22058153|PMID:22142829|PMID:22420426|PMID:22465605|PMID:22711529|PMID:22781091|PMID:23312806|PMID:23624134|PMID:23771920|PMID:23817572|PMID:23996481|PMID:24033266|PMID:24037001|PMID:24039098|PMID:24150203|PMID:24219368|PMID:24436047|PMID:24451042|PMID:24458522|PMID:24718990|PMID:24775816|PMID:24803665|PMID:24891296|PMID:24935154|PMID:24939587|PMID:25039348|PMID:25097206|PMID:25156961|PMID:25337068|PMID:25395418|PMID:25741868|PMID:25741869|PMID:25862627|PMID:25937001|PMID:26084119|PMID:26138366|PMID:26242988|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26817465|PMID:27038324|PMID:27104176|PMID:27276561|PMID:27521173|PMID:27993330|PMID:28125078|PMID:28328117|PMID:28492532|PMID:28650561|PMID:28748642|PMID:28912153|PMID:29263817|PMID:29493581|PMID:29602897|PMID:29758562|PMID:29907801|PMID:30055033|PMID:30105547|PMID:30311386|PMID:30417923|PMID:30541462|PMID:30692697|PMID:30732632|PMID:30784236|PMID:30896080|PMID:30919686|PMID:31219622|PMID:31259454|PMID:31560489|PMID:32164556|PMID:32371413|PMID:32561839|PMID:32737134|PMID:3274644|PMID:32746448|PMID:32901917|PMID:33318624|PMID:33568805|PMID:34008892|PMID:34143244|PMID:34166060|PMID:34704406|PMID:35248088|PMID:35325944|PMID:35979676|PMID:37302266|PMID:38515811|PMID:38540404 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9004665 Pectus Carinatum ISO RGD:731746 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Pectus carinatum PMID:11992261|PMID:12634870|PMID:15001945|PMID:15956085|PMID:16358218|PMID:16804314|PMID:18678287|PMID:19077116|PMID:19125092|PMID:19260062|PMID:20030748|PMID:20301303|PMID:21204800|PMID:21533187|PMID:21590266|PMID:22465605|PMID:22551697|PMID:24033266|PMID:24935154|PMID:25741868|PMID:26918529|PMID:28492532|PMID:29493581|PMID:9751050 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:9005077 Joint Instability ISO RGD:731746 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Joint hypermobility | ClinVar Annotator: match by term: Joint laxity PMID:11704759|PMID:11992261|PMID:12161469|PMID:12325025|PMID:12634870|PMID:12960218|PMID:14644997|PMID:15001945|PMID:15834506|PMID:15928039|PMID:15985475|PMID:16498234|PMID:17020470|PMID:17497712|PMID:17546245|PMID:18470943|PMID:19077116|PMID:19621452|PMID:20186801|PMID:20301303|PMID:21407260|PMID:21533187|PMID:21590266|PMID:22420426|PMID:22465605|PMID:22711529|PMID:22781091|PMID:23624134|PMID:23771920|PMID:23817572|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:27993330|PMID:28328117|PMID:28492532|PMID:28912153|PMID:29493581|PMID:29696744|PMID:29907801|PMID:30055033|PMID:30311386|PMID:30417923|PMID:30692697|PMID:31219622|PMID:31560489|PMID:32164556|PMID:32371413|PMID:32901917|PMID:34008892|PMID:37923938 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:9005369 Hepatomegaly ISO RGD:731746 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Hepatomegaly PMID:15520399|PMID:15690106|PMID:15889278|PMID:16358218|PMID:16733669|PMID:18241070|PMID:18505544|PMID:19077116|PMID:19273734|PMID:19582499|PMID:20301557|PMID:2057894|PMID:20954246|PMID:21677813|PMID:21803945|PMID:21910226|PMID:22058153|PMID:22190897|PMID:22781091|PMID:23673659|PMID:24033266|PMID:24935154|PMID:25359717|PMID:25708222|PMID:25724491|PMID:25741868|PMID:26742426|PMID:28492532|PMID:28973083|PMID:30732632|PMID:35050212 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9005532 Muscle Weakness ISO RGD:731746 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Muscle weakness PMID:11704759|PMID:11992261|PMID:12161469|PMID:12325025|PMID:12634870|PMID:12960218|PMID:14644997|PMID:15001945|PMID:15834506|PMID:15928039|PMID:16498234|PMID:17497712|PMID:19077116|PMID:19621452|PMID:20301303|PMID:21407260|PMID:21533187|PMID:22420426|PMID:22465605|PMID:22711529|PMID:23624134|PMID:23771920|PMID:23817572|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:27993330|PMID:28328117|PMID:28492532|PMID:28912153|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:9005603 Muscle Hypotonia ISO RGD:731746 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia PMID:11992261|PMID:12717436|PMID:12960218|PMID:14644997|PMID:15385933|PMID:15520399|PMID:15690106|PMID:15710330|PMID:15889278|PMID:15948193|PMID:15987685|PMID:16358218|PMID:16518851|PMID:16638574|PMID:16990350|PMID:17020470|PMID:17339163|PMID:17972951|PMID:18286234|PMID:18470943|PMID:19047918|PMID:19077116|PMID:19179468|PMID:19582499|PMID:19681119|PMID:19835954|PMID:20308328|PMID:20578946|PMID:21204800|PMID:21533187|PMID:21677813|PMID:21803945|PMID:21910226|PMID:22058153|PMID:22142829|PMID:22465605|PMID:22488759|PMID:23312806|PMID:24033266|PMID:24150203|PMID:24436047|PMID:24775816|PMID:24935154|PMID:24939587|PMID:25097206|PMID:25395418|PMID:25708222|PMID:25741868|PMID:26138366|PMID:26817465|PMID:27193571|PMID:27276561|PMID:27993330|PMID:28125078|PMID:28492532|PMID:29907801|PMID:30311386|PMID:30410095|PMID:30732632|PMID:30919686|PMID:31560489|PMID:32164556|PMID:32561839|PMID:33318624|PMID:34166060|PMID:35248088|PMID:35979676 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9005603 Muscle Hypotonia ISO RGD:731746 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:11992261|PMID:15520399|PMID:15690106|PMID:15889278|PMID:15948193|PMID:16518851|PMID:19582499|PMID:19681119|PMID:21533187|PMID:21803945|PMID:21910226|PMID:22058153|PMID:22142829|PMID:22465605|PMID:23312806|PMID:24150203|PMID:24436047|PMID:24451042|PMID:24775816|PMID:24935154|PMID:24939587|PMID:25741868|PMID:26138366|PMID:26817465|PMID:27993330|PMID:28125078|PMID:28492532|PMID:30311386|PMID:30732632|PMID:30919686|PMID:31560489|PMID:33318624|PMID:33726816|PMID:34136434|PMID:34166060|PMID:34704406|PMID:35248088|PMID:35979676|PMID:37302266|PMID:38515811|PMID:40127276 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9006009 Neonatal Hypoglycemia, Simulating Foetopathia Diabetica ISO RGD:731746 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Neonatal hypoglycemia PMID:11704759|PMID:15834506|PMID:19077116|PMID:20852937|PMID:21407260|PMID:22959829|PMID:23917401|PMID:24033266|PMID:25741868|PMID:26817465|PMID:28492532|PMID:28748642|PMID:31560489|PMID:31573083|PMID:34006472 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:9006534 Nervous System Malformations ISO RGD:731746 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:11704759|PMID:11992261|PMID:12161469|PMID:12325025|PMID:12634870|PMID:12960218|PMID:14644997|PMID:14961557|PMID:15001945|PMID:15121796|PMID:15723289|PMID:15834506|PMID:15928039|PMID:15987685|PMID:16358218|PMID:16498234|PMID:17497712|PMID:18470943|PMID:19077116|PMID:19621452|PMID:20301303|PMID:20301557|PMID:20954246|PMID:21407260|PMID:21533187|PMID:22420426|PMID:22465605|PMID:22528600|PMID:22711529|PMID:23624134|PMID:23771920|PMID:23817572|PMID:24033266|PMID:24037001|PMID:24219368|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24803665|PMID:24935154|PMID:25156961|PMID:25337068|PMID:25741868|PMID:25741869|PMID:25862627|PMID:25937001|PMID:26084119|PMID:26242988|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26742426|PMID:26817465|PMID:27038324|PMID:27104176|PMID:27993330|PMID:28328117|PMID:28492532|PMID:28912153|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:9006617 Fatigue ISO RGD:731746 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Fatigue PMID:11704759|PMID:11992261|PMID:12161469|PMID:12325025|PMID:12634870|PMID:12960218|PMID:14644997|PMID:15001945|PMID:15834506|PMID:15928039|PMID:16498234|PMID:17497712|PMID:19077116|PMID:19621452|PMID:20301303|PMID:21407260|PMID:21533187|PMID:22420426|PMID:22465605|PMID:22711529|PMID:23624134|PMID:23771920|PMID:23817572|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:27993330|PMID:28328117|PMID:28492532|PMID:28912153|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:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:731746 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9007033 Ventricular Premature Complexes ISO RGD:731746 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Premature ventricular contraction PMID:25741868|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 20250506 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:11704759|PMID:11992261|PMID:12161469|PMID:12325025|PMID:12634870|PMID:12717436|PMID:12960218|PMID:13908956|PMID:14644997|PMID:14974085|PMID:15001945|PMID:15539800|PMID:15723289|PMID:15834506|PMID:15928039|PMID:15929108|PMID:15987685|PMID:16078230|PMID:16124853|PMID:16358218|PMID:16399795|PMID:16498234|PMID:17497712|PMID:17515436|PMID:17661820|PMID:18253957|PMID:18331608|PMID:19061217|PMID:19077116|PMID:19352411|PMID:19509418|PMID:20301303|PMID:20308328|PMID:20979190|PMID:21340158|PMID:21407260|PMID:21533187|PMID:21567923|PMID:21590266|PMID:22190897|PMID:22420426|PMID:22427542|PMID:22465605|PMID:22711529|PMID:23297836|PMID:23624134|PMID:23726368|PMID:23771920|PMID:24033266|PMID:24037001|PMID:24072241|PMID:24219368|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24803665|PMID:24935154|PMID:25156961|PMID:25326637|PMID:25337068|PMID:25741868|PMID:25741869|PMID:25862627|PMID:25912702|PMID:26084119|PMID:26242988|PMID:26372199|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26527198|PMID:26607044|PMID:26645620|PMID:26785492|PMID:26817465|PMID:26918529|PMID:27038324|PMID:27104176|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:30055033|PMID:30287924|PMID:30294303|PMID:30311386|PMID:30355600|PMID:30417923|PMID:30604644|PMID:30692697|PMID:31219622|PMID:31292302|PMID:31560489|PMID:31637070|PMID:32164556|PMID:32371413|PMID:32581362|PMID:32860008|PMID:32901917|PMID:33091040|PMID:33258285|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:9295268 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731746 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome PMID:11704759|PMID:11992261|PMID:12161469|PMID:12325025|PMID:12634870|PMID:12960218|PMID:14644997|PMID:15001945|PMID:15834506|PMID:15928039|PMID:16498234|PMID:17497712|PMID:19077116|PMID:19621452|PMID:20301303|PMID:21407260|PMID:21533187|PMID:22420426|PMID:22465605|PMID:22711529|PMID:23624134|PMID:23771920|PMID:23817572|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:27993330|PMID:28328117|PMID:28492532|PMID:28912153|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:9007462 Partial Agenesis of Corpus Callosum ISO RGD:731746 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Partial agenesis of the corpus callosum PMID:11992261|PMID:14644997|PMID:15385933|PMID:15389709|PMID:15470362|PMID:15710330|PMID:16377799|PMID:16518851|PMID:17972951|PMID:19047918|PMID:19659470|PMID:19681119|PMID:20301557|PMID:20493809|PMID:21533187|PMID:21784453|PMID:22142829|PMID:22190897|PMID:22465605|PMID:22781091|PMID:23321623|PMID:23799168|PMID:24033266|PMID:24436047|PMID:24718990|PMID:24790373|PMID:24935154|PMID:25097206|PMID:25395418|PMID:25741868|PMID:26138366|PMID:26918529|PMID:27069254|PMID:27276561|PMID:27993330|PMID:28483241|PMID:28492532|PMID:28912153|PMID:28966033|PMID:29763623|PMID:29907801|PMID:32573669|PMID:34166060|PMID:35697228|PMID:35885957|PMID:36304179 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9007573 Flatfoot ISO RGD:731746 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Calcaneovalgus deformity PMID:11704759|PMID:11992261|PMID:12717436|PMID:12960218|PMID:15001945|PMID:15248152|PMID:15723289|PMID:15761018|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16124853|PMID:16358218|PMID:16377799|PMID:16804314|PMID:17020470|PMID:17661820|PMID:18678287|PMID:18854871|PMID:19020799|PMID:19077116|PMID:20718194|PMID:21340158|PMID:21533187|PMID:22190897|PMID:22465605|PMID:22781091|PMID:23726368|PMID:24033266|PMID:24451042|PMID:24628801|PMID:24935154|PMID:25595571|PMID:25741868|PMID:25741869|PMID:26467025|PMID:26817465|PMID:26822237|PMID:28492532|PMID:34850017|PMID:34988410|PMID:35101336|PMID:38540404|PMID:39596579 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9007661 Dwarfism ISO RGD:731746 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Short stature PMID:11704759|PMID:11992261|PMID:12161469|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12960218|PMID:14644997|PMID:15001945|PMID:15240615|PMID:15248152|PMID:15385933|PMID:15689434|PMID:15710330|PMID:15723289|PMID:15761018|PMID:15834506|PMID:15928039|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16124853|PMID:16166557|PMID:16263833|PMID:16358218|PMID:16377799|PMID:16498234|PMID:16643459|PMID:16804314|PMID:16830086|PMID:16892325|PMID:16990350|PMID:17020470|PMID:17053061|PMID:17177198|PMID:17339163|PMID:17497712|PMID:17546245|PMID:17641779|PMID:17661820|PMID:17972951|PMID:18328949|PMID:18372317|PMID:18470943|PMID:18562489|PMID:18678287|PMID:18854871|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19077116|PMID:19120036|PMID:19125092|PMID:19179468|PMID:19260062|PMID:19621452|PMID:19706403|PMID:19795160|PMID:20030748|PMID:20186801|PMID:20301303|PMID:20308328|PMID:20718194|PMID:21204800|PMID:21340158|PMID:21365683|PMID:21407260|PMID:21533187|PMID:21590266|PMID:22190897|PMID:22420426|PMID:22465605|PMID:22551697|PMID:22711529|PMID:22781091|PMID:22848035|PMID:23584145|PMID:23624134|PMID:23726368|PMID:23771920|PMID:23817572|PMID:24033266|PMID:24037001|PMID:24039098|PMID:24183200|PMID:24219368|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24803665|PMID:24935154|PMID:25039348|PMID:25097206|PMID:25156961|PMID:25337068|PMID:25395418|PMID:25425531|PMID:25595571|PMID:25741868|PMID:25741869|PMID:25804457|PMID:25862627|PMID:26084119|PMID:26242988|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26817465|PMID:26822237|PMID:26918529|PMID:27038324|PMID:27104176|PMID:27276561|PMID:27353043|PMID:27521173|PMID:27993330|PMID:28074573|PMID:28328117|PMID:28483241|PMID:28492532|PMID:28912153|PMID:28966033|PMID:29300386|PMID:29493581|PMID:29758562|PMID:29763623|PMID:29907801|PMID:29988639|PMID:30050098|PMID:30055033|PMID:30311386|PMID:30325180|PMID:30417923|PMID:30602027|PMID:30692697|PMID:31219622|PMID:31560489|PMID:32164556|PMID:32233106|PMID:32371413|PMID:32561839|PMID:32565546|PMID:32719394|PMID:32901917|PMID:33300679|PMID:33726816|PMID:34006472|PMID:34008892|PMID:34643321|PMID:34850017|PMID:34988410|PMID:35101336|PMID:35325944|PMID:35396703|PMID:35697228|PMID:36304179|PMID:36349709|PMID:36496429|PMID:37600658|PMID:37923938|PMID:38374194|PMID:38540404|PMID:39392019|PMID:39596579|PMID:9491886|PMID:9751050 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9007956 Febrile Seizures ISO RGD:731746 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Simple febrile seizure PMID:11992261|PMID:15520399|PMID:15690106|PMID:15889278|PMID:15948193|PMID:16518851|PMID:19582499|PMID:19681119|PMID:21533187|PMID:21803945|PMID:21910226|PMID:22058153|PMID:22142829|PMID:22465605|PMID:23312806|PMID:24150203|PMID:24436047|PMID:24775816|PMID:24935154|PMID:24939587|PMID:25741868|PMID:26138366|PMID:26817465|PMID:27993330|PMID:28125078|PMID:28492532|PMID:30311386|PMID:30732632|PMID:30919686|PMID:31560489|PMID:33318624|PMID:34166060|PMID:34704406|PMID:35248088|PMID:35979676|PMID:37302266|PMID:38515811 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9008023 Memory Disorders ISO RGD:731746 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Memory impairment PMID:24451042|PMID:25741868|PMID:28492532|PMID:33726816|PMID:34136434|PMID:40127276 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9008086 Developmental Disabilities ISO RGD:731746 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Global developmental delay | ClinVar Annotator: match by term: global developmental delay PMID:11704759|PMID:11992261|PMID:12161469|PMID:12717436|PMID:12960218|PMID:14644997|PMID:14676626|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15240615|PMID:15248152|PMID:15385933|PMID:15520399|PMID:15539800|PMID:15690106|PMID:15710330|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15948193|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16115145|PMID:16124853|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16518851|PMID:16523510|PMID:16804314|PMID:16987887|PMID:17020470|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17546245|PMID:17661820|PMID:17875892|PMID:17910045|PMID:17972951|PMID:18241070|PMID:18331608|PMID:18454468|PMID:18470943|PMID:18505544|PMID:18678287|PMID:18759865|PMID:18854871|PMID:19020799|PMID:19047918|PMID:19063751|PMID:19077116|PMID:19179468|PMID:19582499|PMID:19621452|PMID:19681119|PMID:19768645|PMID:20237506|PMID:20301557|PMID:20383758|PMID:20718194|PMID:21106241|PMID:21340158|PMID:21533187|PMID:21784453|PMID:21803945|PMID:21901340|PMID:21910226|PMID:21934682|PMID:22058153|PMID:22142829|PMID:22190897|PMID:22465605|PMID:22681964|PMID:22781091|PMID:22923420|PMID:23312806|PMID:23321623|PMID:23446178|PMID:23726368|PMID:23771920|PMID:23817572|PMID:23832011|PMID:24033266|PMID:24150203|PMID:24183200|PMID:24436047|PMID:24451042|PMID:24628801|PMID:24718990|PMID:24775816|PMID:24803665|PMID:24891296|PMID:24935154|PMID:24939587|PMID:25097206|PMID:25395418|PMID:25500235|PMID:25544017|PMID:25595571|PMID:25612910|PMID:25741868|PMID:25741869|PMID:25804457|PMID:26138366|PMID:26286251|PMID:26467025|PMID:26817465|PMID:26822237|PMID:26918529|PMID:27030275|PMID:27069254|PMID:27153395|PMID:27276561|PMID:27562378|PMID:27993330|PMID:28051113|PMID:28125078|PMID:28328117|PMID:28492532|PMID:28912153|PMID:28966033|PMID:29356064|PMID:29493581|PMID:29693080|PMID:29763623|PMID:29907801|PMID:30311386|PMID:30417923|PMID:30732632|PMID:30919686|PMID:31219622|PMID:31370276|PMID:31560489|PMID:32164556|PMID:32561839|PMID:32668031|PMID:32746448|PMID:33318624|PMID:34008892|PMID:34166060|PMID:34303558|PMID:34308104|PMID:34704406|PMID:34850017|PMID:34988410|PMID:35101336|PMID:35248088|PMID:35697228|PMID:35979676|PMID:36567979|PMID:37302266|PMID:37600658|PMID:38515811|PMID:38540404|PMID:39596579|PMID:39669259|PMID:40225944 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:9008296 Eye Abnormalities ISO RGD:731746 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:11992261|PMID:12161469|PMID:12717436|PMID:14644997|PMID:14676626|PMID:15009076|PMID:15240615|PMID:15385933|PMID:15539800|PMID:15723289|PMID:15725481|PMID:15834506|PMID:15842656|PMID:15928039|PMID:15948193|PMID:15987685|PMID:16115145|PMID:16358218|PMID:16377799|PMID:17020470|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17546245|PMID:17910045|PMID:17972951|PMID:18331608|PMID:18454468|PMID:19063751|PMID:20237506|PMID:20383758|PMID:22465605|PMID:23446178|PMID:23832011|PMID:24033266|PMID:24718990|PMID:25097206|PMID:25741868|PMID:26286251|PMID:28492532|PMID:29493581|PMID:32164556 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9008386 Hydrops Fetalis ISO RGD:731746 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Fetal edema | ClinVar Annotator: match by term: Hydrops fetalis | ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:11992261|PMID:12161469|PMID:15001945|PMID:15240615|PMID:15834506|PMID:15842656|PMID:16263833|PMID:16358218|PMID:16518851|PMID:16643459|PMID:1672296|PMID:17020470|PMID:18223690|PMID:18470943|PMID:18701506|PMID:18759865|PMID:19020799|PMID:19077116|PMID:19621452|PMID:19681119|PMID:20112233|PMID:21106241|PMID:21340158|PMID:21407260|PMID:21465649|PMID:21784453|PMID:21901340|PMID:22097954|PMID:22142829|PMID:22465605|PMID:22681964|PMID:23321623|PMID:23771920|PMID:23817572|PMID:24033266|PMID:24039098|PMID:24150203|PMID:24183200|PMID:24436047|PMID:25097206|PMID:25253770|PMID:2564168|PMID:2572450|PMID:25741868|PMID:26138366|PMID:26242988|PMID:26817465|PMID:27030275|PMID:27521173|PMID:27959697|PMID:27993330|PMID:28328117|PMID:28492532|PMID:28912153|PMID:28921562|PMID:28991257|PMID:29057136|PMID:29907801|PMID:30097824|PMID:30375388|PMID:30732632|PMID:31219622|PMID:31560489|PMID:32164556|PMID:32164789|PMID:32188694|PMID:32668031|PMID:32806529|PMID:33318624|PMID:34166060|PMID:34303558 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9008952 Breast Cancer, Familial ISO RGD:731746 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9009050 Hypocalcemia ISO RGD:731746 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hypocalcemia PMID:11704759|PMID:11992261|PMID:12161469|PMID:12325025|PMID:12634870|PMID:12960218|PMID:14644997|PMID:15001945|PMID:15834506|PMID:15928039|PMID:16498234|PMID:17497712|PMID:19077116|PMID:19621452|PMID:20301303|PMID:21407260|PMID:21533187|PMID:22420426|PMID:22465605|PMID:22711529|PMID:23624134|PMID:23771920|PMID:23817572|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:27993330|PMID:28328117|PMID:28492532|PMID:28912153|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: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:9834 hyperopia ISO RGD:731746 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Hypermetropia PMID:11992261|PMID:12717436|PMID:15689434|PMID:15996221|PMID:16124853|PMID:16358218|PMID:16377799|PMID:17020470|PMID:17339163|PMID:18470943|PMID:18678287|PMID:18854871|PMID:19120036|PMID:20301303|PMID:23771920|PMID:24033266|PMID:24183200|PMID:25741868|PMID:26918529|PMID:27521173|PMID:28492532|PMID:30417923|PMID:31560489|PMID:32164556|PMID:32565546|PMID:33300679|PMID:36304179 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9970 obesity ISO RGD:731746 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Obesity PMID:24451042|PMID:25741868|PMID:28492532|PMID:33726816|PMID:34136434|PMID:40127276 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9993 hypoglycemia ISO RGD:731746 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Hypoglycemia PMID:15520399|PMID:15690106|PMID:15889278|PMID:16358218|PMID:16733669|PMID:18241070|PMID:18505544|PMID:19077116|PMID:19273734|PMID:19582499|PMID:20301557|PMID:2057894|PMID:20954246|PMID:21677813|PMID:21803945|PMID:21910226|PMID:22058153|PMID:22190897|PMID:22781091|PMID:23673659|PMID:24033266|PMID:24935154|PMID:25359717|PMID:25708222|PMID:25724491|PMID:25741868|PMID:26742426|PMID:28492532|PMID:28973083|PMID:30732632|PMID:35050212 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:0050387 nonpapillary renal cell carcinoma ISO RGD:1315209 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8703728 Rrbp1 ribosome binding protein 1 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1315209 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8703728 Rrbp1 ribosome binding protein 1 gene DOID:10534 stomach cancer ISO RGD:1315209 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8703728 Rrbp1 ribosome binding protein 1 gene DOID:11054 urinary bladder cancer ISO RGD:1315209 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8703728 Rrbp1 ribosome binding protein 1 gene DOID:1115 sarcoma ISO RGD:1315209 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8703728 Rrbp1 ribosome binding protein 1 gene DOID:1324 lung cancer ISO RGD:1315209 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8703728 Rrbp1 ribosome binding protein 1 gene DOID:1909 melanoma ISO RGD:1315209 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8703728 Rrbp1 ribosome binding protein 1 gene DOID:234 colon adenocarcinoma ISO RGD:1315209 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8703728 Rrbp1 ribosome binding protein 1 gene DOID:3275 thymoma ISO RGD:1315209 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8703728 Rrbp1 ribosome binding protein 1 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1315209 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma 8703728 Rrbp1 ribosome binding protein 1 gene DOID:4362 cervical cancer ISO RGD:1315209 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8703728 Rrbp1 ribosome binding protein 1 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1315209 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 8703728 Rrbp1 ribosome binding protein 1 gene DOID:5041 esophageal cancer ISO RGD:1315209 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8703728 Rrbp1 ribosome binding protein 1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1315209 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8703728 Rrbp1 ribosome binding protein 1 gene DOID:6171 uterine carcinosarcoma ISO RGD:1315209 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8703728 Rrbp1 ribosome binding protein 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1315209 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8703728 Rrbp1 ribosome binding protein 1 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1315209 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8703728 Rrbp1 ribosome binding protein 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1315209 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8703728 Rrbp1 ribosome binding protein 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1315209 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 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:0050939 uterine corpus endometrial carcinoma ISO RGD:732174 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8703756 Bche butyrylcholinesterase gene DOID:0051061 stroke ISO RGD:732174 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20464061|REF_RGD_ID:5688131 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:10534 stomach cancer ISO RGD:732174 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 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:11832 visual epilepsy ISO RGD:732174 D RGD:9068941 20260108 CTD CTD Direct Evidence: therapeutic PMID:18597747|PMID:20971807|PMID:8667461 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:1324 lung cancer ISO RGD:732174 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 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:3907 lung squamous cell carcinoma ISO RGD:732174 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma 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:5746 ovarian serous cystadenocarcinoma ISO RGD:732174 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8703756 Bche butyrylcholinesterase gene DOID:630 genetic disease ISO RGD:732174 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 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 20260616 ClinVar ClinVar Annotator: match by term: APNEA, POSTANESTHETIC | ClinVar Annotator: match by term: BCHE, H variant | ClinVar Annotator: match by term: BCHE, J VARIANT | ClinVar Annotator: match by term: BCHE-related disorder | ClinVar Annotator: match by term: BUTYRYLCHOLINESTERASE DEFICIENCY | ClinVar Annotator: match by term: Butyrylcholinesterase deficiency | ClinVar Annotator: match by term: Deficiency of butyrylcholine esterase | ClinVar Annotator: match by term: Pseudocholinesterase deficiency | ClinVar Annotator: match by term: butyrylcholinesterase deficiency PMID:10404729|PMID:11575530|PMID:12417112|PMID:1271425|PMID:12724618|PMID:12881446|PMID:1306123|PMID:1349196|PMID:1415224|PMID:15563885|PMID:16434405|PMID:16788378|PMID:18075469|PMID:18165570|PMID:18300943|PMID:18555211|PMID:2013061|PMID:21228368|PMID:22378569|PMID:2253336|PMID:23123771|PMID:2339692|PMID:24033266|PMID:25448037|PMID:25741868|PMID:27017361|PMID:27109752|PMID:28492532|PMID:31589614|PMID:31980526|PMID:33010031|PMID:33024248|PMID:33774263|PMID:3557462|PMID:38523675|PMID:39465744|PMID:7618741|PMID:7760318|PMID:8314794|PMID:8554068|PMID:8680411|PMID:9110359|PMID:9191541|PMID:9388484 8703756 Bche butyrylcholinesterase gene DOID:9000441 Butyrylcholinesterase Deficiency susceptibility ISO RGD:732174 D RGD:7240710 20260701 OMIM 8703756 Bche butyrylcholinesterase gene DOID:9000459 Acholinesterasemia ISO RGD:732174 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Acholinesterasemia PMID:18300943|PMID:21228368|PMID:25741868|PMID:27109752|PMID:28492532|PMID:8554068 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: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: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:5746 ovarian serous cystadenocarcinoma ISO RGD:1345156 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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 | 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:4362 cervical cancer ISO RGD:734227 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8703803 Arl3 ARF like GTPase 3 gene DOID:4947 cholangiocarcinoma ISO RGD:734227 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 8703803 Arl3 ARF like GTPase 3 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:734227 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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 20260519 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532 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 20260519 ClinVar ClinVar Annotator: match by term: ARL3-related condition | ClinVar Annotator: match by term: JOUBERT SYNDROME 35 | ClinVar Annotator: match by term: Joubert syndrome 35 PMID:25741868|PMID:28492532|PMID:30269812 8703803 Arl3 ARF like GTPase 3 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:734227 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8703803 Arl3 ARF like GTPase 3 gene DOID:9008952 Breast Cancer, Familial ISO RGD:734227 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8703813 Bmpr1b bone morphogenetic protein receptor type 1B gene DOID:0050117 disease by infectious agent ISO RGD:1354405 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Recurrent infections PMID:25741868|PMID:28492532 8703813 Bmpr1b bone morphogenetic protein receptor type 1B gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1354405 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 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:0050790 fibular hypoplasia and complex brachydactyly ISO RGD:1354405 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 2B 8703813 Bmpr1b bone morphogenetic protein receptor type 1B gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1354405 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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 20260602 ClinVar ClinVar Annotator: match by term: acromesomelic dysplasia Hunter-Thompson type 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 20260602 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:14523231|PMID:15805157|PMID:16199547|PMID:17576681|PMID:22374147|PMID:24129431|PMID:25741868|PMID:25758993|PMID:28418932|PMID:28492532|PMID:31769494|PMID:33057194|PMID:33486847|PMID:35034853|PMID:35982159|PMID:9536098 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 20260602 ClinVar ClinVar Annotator: match by term: MOHR-WRIEDT TYPE BRACHYDACTYLY | ClinVar Annotator: match by term: Mohr-Wriedt type brachydactyly | ClinVar Annotator: match by term: Type A2 brachydactyly PMID:14523231|PMID:22374147|PMID:25741868|PMID:25758993|PMID:28492532|PMID:33486847|PMID:35034853 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 20260602 ClinVar ClinVar Annotator: match by term: BRACHYDACTYLY, TYPE A1, D | ClinVar Annotator: match by term: Brachydactyly type A1D | ClinVar Annotator: match by term: Brachydactyly, type a1, d PMID:25741868|PMID:28492532 8703813 Bmpr1b bone morphogenetic protein receptor type 1B gene DOID:1115 sarcoma ISO RGD:1354405 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8703813 Bmpr1b bone morphogenetic protein receptor type 1B gene DOID:12849 autistic disorder ISO RGD:1354405 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:28492532 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:1909 melanoma ISO RGD:1354405 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8703813 Bmpr1b bone morphogenetic protein receptor type 1B gene DOID:2256 osteochondrodysplasia ISO RGD:1354405 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:25741868 8703813 Bmpr1b bone morphogenetic protein receptor type 1B gene DOID:2303 stereotypic movement disorder ISO RGD:1354405 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Stereotypic movement disorder PMID:25741868|PMID:28492532 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:480 movement disease ISO RGD:1354405 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Movement disorder PMID:25741868|PMID:28492532 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:5746 ovarian serous cystadenocarcinoma ISO RGD:1354405 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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:9001276 Failure to Thrive ISO RGD:1354405 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:25741868|PMID:28492532 8703813 Bmpr1b bone morphogenetic protein receptor type 1B gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1354405 D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease | ClinVar Annotator: match by term: pulmonary arterial hypertension PMID:25741868|PMID:28492532|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:9002775 Cognitive Dysfunction ISO RGD:1354405 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cognitive impairment PMID:25741868|PMID:28492532 8703813 Bmpr1b bone morphogenetic protein receptor type 1B gene DOID:9005603 Muscle Hypotonia ISO RGD:1354405 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:25741868|PMID:28492532 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:9006534 Nervous System Malformations ISO RGD:1354405 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:28492532 8703813 Bmpr1b bone morphogenetic protein receptor type 1B gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1354405 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8703813 Bmpr1b bone morphogenetic protein receptor type 1B gene DOID:9007661 Dwarfism ISO RGD:1354405 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868|PMID:28492532 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 8703813 Bmpr1b bone morphogenetic protein receptor type 1B gene DOID:9008952 Breast Cancer, Familial ISO RGD:1354405 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8703813 Bmpr1b bone morphogenetic protein receptor type 1B gene DOID:9834 hyperopia ISO RGD:1354405 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hypermetropia PMID:28492532 8703873 Dlc1 DLC1 Rho GTPase activating protein gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:68616 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8703873 Dlc1 DLC1 Rho GTPase activating protein gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:68616 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma PMID:25741868 8703873 Dlc1 DLC1 Rho GTPase activating protein gene DOID:0060326 myelomeningocele ISO RGD:68616 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Myelomeningocele PMID:25741868 8703873 Dlc1 DLC1 Rho GTPase activating protein gene DOID:0080073 spina bifida occulta ISO RGD:68616 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Spina bifida occulta PMID:25741868 8703873 Dlc1 DLC1 Rho GTPase activating protein gene DOID:10534 stomach cancer ISO RGD:68616 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:25741868 8703873 Dlc1 DLC1 Rho GTPase activating protein gene DOID:1115 sarcoma ISO RGD:68616 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma PMID:25741868 8703873 Dlc1 DLC1 Rho GTPase activating protein gene DOID:1324 lung cancer ISO RGD:68616 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 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:3275 thymoma ISO RGD:68616 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma PMID:25741868 8703873 Dlc1 DLC1 Rho GTPase activating protein gene DOID:4362 cervical cancer ISO RGD:68616 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer PMID:25741868 8703873 Dlc1 DLC1 Rho GTPase activating protein gene DOID:5041 esophageal cancer ISO RGD:68616 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus PMID:25741868 8703873 Dlc1 DLC1 Rho GTPase activating protein gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:68616 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma PMID:25741868 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:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:68616 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 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:9119 acute myeloid leukemia ISO RGD:68616 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 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, 12 | ClinVar Annotator: match by term: DLC1-related condition | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:17576681|PMID:24587289|PMID:25741868|PMID:28106320|PMID:28492532|PMID:9536098 8703873 Dlc1 DLC1 Rho GTPase activating protein gene DOID:9256 colorectal cancer ISO RGD:68616 D RGD:8554872 20260519 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:10649492|PMID:17576681|PMID:24587289|PMID:25741868|PMID:28106320|PMID:28492532|PMID:9536098 8703913 Col20a1 collagen type XX alpha 1 chain gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1602872 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8703913 Col20a1 collagen type XX alpha 1 chain gene DOID:10534 stomach cancer ISO RGD:1602872 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer 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 8703913 Col20a1 collagen type XX alpha 1 chain gene DOID:3070 high grade glioma ISO RGD:1602872 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Glioma susceptibility 1 8703913 Col20a1 collagen type XX alpha 1 chain gene DOID:4362 cervical cancer ISO RGD:1602872 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8703913 Col20a1 collagen type XX alpha 1 chain gene DOID:6171 uterine carcinosarcoma ISO RGD:1602872 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8703913 Col20a1 collagen type XX alpha 1 chain gene DOID:9008952 Breast Cancer, Familial ISO RGD:1602872 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8703970 Sdf2l1 stromal cell derived factor 2 like 1 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1320780 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8703970 Sdf2l1 stromal cell derived factor 2 like 1 gene DOID:11054 urinary bladder cancer ISO RGD:1320780 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8703970 Sdf2l1 stromal cell derived factor 2 like 1 gene DOID:3275 thymoma ISO RGD:1320780 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 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:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1320780 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 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 8703978 Znf658 zinc finger protein 658 gene DOID:4362 cervical cancer ISO RGD:1345425 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8703978 Znf658 zinc finger protein 658 gene DOID:4947 cholangiocarcinoma ISO RGD:1345425 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 8703978 Znf658 zinc finger protein 658 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1345425 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8703978 Znf658 zinc finger protein 658 gene DOID:684 hepatocellular carcinoma ISO RGD:1345425 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 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:0050939 uterine corpus endometrial carcinoma ISO RGD:1321254 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8703988 Rangap1 Ran GTPase activating protein 1 gene DOID:0111117 nephronophthisis-like nephropathy 1 ISO RGD:1321254 D RGD:8554872 20250729 ClinVar ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1 8703988 Rangap1 Ran GTPase activating protein 1 gene DOID:10534 stomach cancer ISO RGD:1321254 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 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:234 colon adenocarcinoma ISO RGD:1321254 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8703988 Rangap1 Ran GTPase activating protein 1 gene DOID:3275 thymoma ISO RGD:1321254 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8703988 Rangap1 Ran GTPase activating protein 1 gene DOID:5041 esophageal cancer ISO RGD:1321254 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8703988 Rangap1 Ran GTPase activating protein 1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1321254 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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 8703988 Rangap1 Ran GTPase activating protein 1 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1321254 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8703988 Rangap1 Ran GTPase activating protein 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1321254 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8703988 Rangap1 Ran GTPase activating protein 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1321254 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8704012 Celf3 CUGBP Elav-like family member 3 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1319873 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8704012 Celf3 CUGBP Elav-like family member 3 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1319873 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8704012 Celf3 CUGBP Elav-like family member 3 gene DOID:10534 stomach cancer ISO RGD:1319873 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8704012 Celf3 CUGBP Elav-like family member 3 gene DOID:1324 lung cancer ISO RGD:1319873 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8704012 Celf3 CUGBP Elav-like family member 3 gene DOID:1909 melanoma ISO RGD:1319873 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8704012 Celf3 CUGBP Elav-like family member 3 gene DOID:4362 cervical cancer ISO RGD:1319873 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 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:5746 ovarian serous cystadenocarcinoma ISO RGD:1319873 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8704012 Celf3 CUGBP Elav-like family member 3 gene DOID:6171 uterine carcinosarcoma ISO RGD:1319873 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 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:769 neuroblastoma ISO RGD:730841 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17762496 8704063 Maged1 MAGE family member D1 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:736331 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8704063 Maged1 MAGE family member D1 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:736331 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8704063 Maged1 MAGE family member D1 gene DOID:1909 melanoma ISO RGD:736331 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8704063 Maged1 MAGE family member D1 gene DOID:3907 lung squamous cell carcinoma ISO RGD:736331 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma 8704063 Maged1 MAGE family member D1 gene DOID:4362 cervical cancer ISO RGD:736331 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8704063 Maged1 MAGE family member D1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:736331 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8704063 Maged1 MAGE family member D1 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:736331 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8704063 Maged1 MAGE family member D1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:736331 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 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 20260602 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 | ClinVar Annotator: match by term: DNAJC19-related condition | ClinVar Annotator: match by term: MGA, TYPE V PMID:16055927|PMID:16199547|PMID:17576681|PMID:22797137|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:11054 urinary bladder cancer ISO RGD:1603908 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8704094 Dnajc19 DnaJ heat shock protein family (Hsp40) member C19 gene DOID:1115 sarcoma ISO RGD:1603908 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8704094 Dnajc19 DnaJ heat shock protein family (Hsp40) member C19 gene DOID:1324 lung cancer ISO RGD:1603908 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8704094 Dnajc19 DnaJ heat shock protein family (Hsp40) member C19 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1603908 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma 8704094 Dnajc19 DnaJ heat shock protein family (Hsp40) member C19 gene DOID:4362 cervical cancer ISO RGD:1603908 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8704094 Dnajc19 DnaJ heat shock protein family (Hsp40) member C19 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1603908 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8704094 Dnajc19 DnaJ heat shock protein family (Hsp40) member C19 gene DOID:6171 uterine carcinosarcoma ISO RGD:1603908 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8704094 Dnajc19 DnaJ heat shock protein family (Hsp40) member C19 gene DOID:630 genetic disease ISO RGD:1603908 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8704094 Dnajc19 DnaJ heat shock protein family (Hsp40) member C19 gene DOID:684 hepatocellular carcinoma ISO RGD:1603908 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8704109 Gorasp2 golgi reassembly stacking protein 2 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:736034 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8704109 Gorasp2 golgi reassembly stacking protein 2 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:736034 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8704109 Gorasp2 golgi reassembly stacking protein 2 gene DOID:1324 lung cancer ISO RGD:736034 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8704109 Gorasp2 golgi reassembly stacking protein 2 gene DOID:1909 melanoma ISO RGD:736034 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8704109 Gorasp2 golgi reassembly stacking protein 2 gene DOID:234 colon adenocarcinoma ISO RGD:736034 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8704109 Gorasp2 golgi reassembly stacking protein 2 gene DOID:3907 lung squamous cell carcinoma ISO RGD:736034 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma 8704109 Gorasp2 golgi reassembly stacking protein 2 gene DOID:5041 esophageal cancer ISO RGD:736034 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8704109 Gorasp2 golgi reassembly stacking protein 2 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:736034 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8704109 Gorasp2 golgi reassembly stacking protein 2 gene DOID:684 hepatocellular carcinoma ISO RGD:736034 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8704109 Gorasp2 golgi reassembly stacking protein 2 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:736034 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8704144 Nkapd1 NKAP domain containing 1 gene DOID:1115 sarcoma ISO RGD:1605379 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8704144 Nkapd1 NKAP domain containing 1 gene DOID:1324 lung cancer ISO RGD:1605379 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8704144 Nkapd1 NKAP domain containing 1 gene DOID:234 colon adenocarcinoma ISO RGD:1605379 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8704144 Nkapd1 NKAP domain containing 1 gene DOID:3275 thymoma ISO RGD:1605379 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8704144 Nkapd1 NKAP domain containing 1 gene DOID:5041 esophageal cancer ISO RGD:1605379 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8704144 Nkapd1 NKAP domain containing 1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1605379 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8704144 Nkapd1 NKAP domain containing 1 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1605379 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial prostate cancer 8704144 Nkapd1 NKAP domain containing 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1605379 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8704161 Mamdc4 MAM domain containing 4 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1604980 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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:10534 stomach cancer ISO RGD:1604980 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8704161 Mamdc4 MAM domain containing 4 gene DOID:11054 urinary bladder cancer ISO RGD:1604980 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8704161 Mamdc4 MAM domain containing 4 gene DOID:1115 sarcoma ISO RGD:1604980 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8704161 Mamdc4 MAM domain containing 4 gene DOID:3275 thymoma ISO RGD:1604980 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8704161 Mamdc4 MAM domain containing 4 gene DOID:4362 cervical cancer ISO RGD:1604980 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8704161 Mamdc4 MAM domain containing 4 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1604980 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 8704161 Mamdc4 MAM domain containing 4 gene DOID:5041 esophageal cancer ISO RGD:1604980 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8704161 Mamdc4 MAM domain containing 4 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1604980 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8704161 Mamdc4 MAM domain containing 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1604980 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8704161 Mamdc4 MAM domain containing 4 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1604980 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8704161 Mamdc4 MAM domain containing 4 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1604980 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast 8704161 Mamdc4 MAM domain containing 4 gene DOID:9119 acute myeloid leukemia ISO RGD:1604980 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8704161 Mamdc4 MAM domain containing 4 gene DOID:9256 colorectal cancer ISO RGD:1604980 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colorectal cancer 8704192 Ca12 carbonic anhydrase 12 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1315327 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 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: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 20260602 ClinVar ClinVar Annotator: match by term: CA12-related condition | ClinVar Annotator: match by term: HYPERCHLORHIDROSIS, ISOLATED | ClinVar Annotator: match by term: Isolated hyperchlorhidrosis PMID:25741868|PMID:26911677 8704192 Ca12 carbonic anhydrase 12 gene DOID:10534 stomach cancer ISO RGD:1315327 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:25741868 8704192 Ca12 carbonic anhydrase 12 gene DOID:1115 sarcoma ISO RGD:1315327 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 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:1909 melanoma ISO RGD:1315327 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma PMID:25741868|PMID:26911677 8704192 Ca12 carbonic anhydrase 12 gene DOID:234 colon adenocarcinoma ISO RGD:1315327 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma PMID:25741868|PMID:26911677 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:3275 thymoma ISO RGD:1315327 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 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:5041 esophageal cancer ISO RGD:1315327 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus PMID:25741868 8704192 Ca12 carbonic anhydrase 12 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1315327 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 8704192 Ca12 carbonic anhydrase 12 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1315327 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1315327 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 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:9008952 Breast Cancer, Familial ISO RGD:1315327 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 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 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 20260602 ClinVar ClinVar Annotator: match by term: HYPOTRICHOSIS 12 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:4947 cholangiocarcinoma ISO RGD:1604710 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 8704246 Siglec5 sialic acid binding Ig like lectin 5 gene DOID:10534 stomach cancer ISO RGD:1313458 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8704246 Siglec5 sialic acid binding Ig like lectin 5 gene DOID:1324 lung cancer ISO RGD:1313458 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8704246 Siglec5 sialic acid binding Ig like lectin 5 gene DOID:234 colon adenocarcinoma ISO RGD:1313458 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8704246 Siglec5 sialic acid binding Ig like lectin 5 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1313458 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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 8704246 Siglec5 sialic acid binding Ig like lectin 5 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1313458 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8704246 Siglec5 sialic acid binding Ig like lectin 5 gene DOID:9119 acute myeloid leukemia ISO RGD:1313458 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8704248 Ssbp2 single stranded DNA binding protein 2 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1344325 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8704248 Ssbp2 single stranded DNA binding protein 2 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1344325 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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: Prostate cancer PMID:23265383 8704248 Ssbp2 single stranded DNA binding protein 2 gene DOID:10283 prostate cancer ISO RGD:1344325 D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 8704248 Ssbp2 single stranded DNA binding protein 2 gene DOID:10534 stomach cancer ISO RGD:1344325 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8704248 Ssbp2 single stranded DNA binding protein 2 gene DOID:1115 sarcoma ISO RGD:1344325 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8704248 Ssbp2 single stranded DNA binding protein 2 gene DOID:1324 lung cancer ISO RGD:1344325 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8704248 Ssbp2 single stranded DNA binding protein 2 gene DOID:1909 melanoma ISO RGD:1344325 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 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:4362 cervical cancer ISO RGD:1344325 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8704248 Ssbp2 single stranded DNA binding protein 2 gene DOID:5041 esophageal cancer ISO RGD:1344325 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8704248 Ssbp2 single stranded DNA binding protein 2 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1344325 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 8704248 Ssbp2 single stranded DNA binding protein 2 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1344325 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8704248 Ssbp2 single stranded DNA binding protein 2 gene DOID:6171 uterine carcinosarcoma ISO RGD:1344325 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8704248 Ssbp2 single stranded DNA binding protein 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1344325 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 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:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1344325 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8704248 Ssbp2 single stranded DNA binding protein 2 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1344325 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8704248 Ssbp2 single stranded DNA binding protein 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1344325 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8704283 Clk2 CDC like kinase 2 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1343354 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8704283 Clk2 CDC like kinase 2 gene DOID:10534 stomach cancer ISO RGD:1343354 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8704283 Clk2 CDC like kinase 2 gene DOID:11054 urinary bladder cancer ISO RGD:1343354 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8704283 Clk2 CDC like kinase 2 gene DOID:1115 sarcoma ISO RGD:1343354 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8704283 Clk2 CDC like kinase 2 gene DOID:1324 lung cancer ISO RGD:1343354 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8704283 Clk2 CDC like kinase 2 gene DOID:2394 ovarian cancer ISO RGD:1343354 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian cancer 8704283 Clk2 CDC like kinase 2 gene DOID:4074 pancreatic adenocarcinoma ISO RGD:1343354 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma 8704283 Clk2 CDC like kinase 2 gene DOID:4362 cervical cancer ISO RGD:1343354 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8704283 Clk2 CDC like kinase 2 gene DOID:4947 cholangiocarcinoma ISO RGD:1343354 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 8704283 Clk2 CDC like kinase 2 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1343354 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 8704283 Clk2 CDC like kinase 2 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1343354 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8704283 Clk2 CDC like kinase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1343354 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8704283 Clk2 CDC like kinase 2 gene DOID:9004083 Familial Pancreatic Carcinoma ISO RGD:1343354 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial pancreatic carcinoma 8704307 Ptpn6 protein tyrosine phosphatase non-receptor type 6 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:734188 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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:10534 stomach cancer ISO RGD:734188 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 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:14566 disease of cellular proliferation ISO RGD:734188 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Neoplasm PMID:35101336 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:3907 lung squamous cell carcinoma ISO RGD:734188 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma 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:4467 clear cell renal cell carcinoma ISO RGD:734188 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 8704307 Ptpn6 protein tyrosine phosphatase non-receptor type 6 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:734188 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8704307 Ptpn6 protein tyrosine phosphatase non-receptor type 6 gene DOID:684 hepatocellular carcinoma ISO RGD:734188 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 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:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:734188 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8704307 Ptpn6 protein tyrosine phosphatase non-receptor type 6 gene DOID:9008952 Breast Cancer, Familial ISO RGD:734188 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8704337 Gipc2 GIPC PDZ domain containing family member 2 gene DOID:4074 pancreatic adenocarcinoma ISO RGD:1603220 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma 8704337 Gipc2 GIPC PDZ domain containing family member 2 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1603220 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8704337 Gipc2 GIPC PDZ domain containing family member 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1603220 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 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 8704406 Hoxb9 homeobox B9 gene DOID:10534 stomach cancer ISO RGD:1314613 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Stomach cancer 8704406 Hoxb9 homeobox B9 gene DOID:3275 thymoma ISO RGD:1314613 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8704406 Hoxb9 homeobox B9 gene DOID:5041 esophageal cancer ISO RGD:1314613 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8704406 Hoxb9 homeobox B9 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1314613 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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:0050387 nonpapillary renal cell carcinoma ISO RGD:1322684 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:0050848 obstructive sleep apnea ISO RGD:1322684 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Obstructive sleep apnea syndrome PMID:25741868 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1322684 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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: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 20260616 ClinVar ClinVar Annotator: match by term: CHD4-Related Disorder | ClinVar Annotator: match by term: CHD4-related disorder | ClinVar Annotator: match by term: SIFRIM-HITZ-WEISS MULTIPLE CONGENITAL ANOMALIES-MENTAL RETARDATION SYNDROME | ClinVar Annotator: match by term: SIFRIM-HITZ-WEISS SYNDROME | 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:39824190|PMID:9536098 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:0080204 renal hypoplasia ISO RGD:1322684 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Renal hypoplasia PMID:25741868 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:0080833 laryngomalacia ISO RGD:1322684 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Congenital laryngomalacia PMID:25741868 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:10488 imperforate anus ISO RGD:1322684 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Imperforate anus 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:10534 stomach cancer ISO RGD:1322684 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 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:10908 hydrocephalus ISO RGD:1322684 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Hydrocephalus PMID:25741868 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:11054 urinary bladder cancer ISO RGD:1322684 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:1115 sarcoma ISO RGD:1322684 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:11383 cryptorchidism ISO RGD:1322684 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Bilateral cryptorchidism PMID:25741868 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:12270 coloboma ISO RGD:1322684 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Congenital ocular coloboma 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:12397 entropion ISO RGD:1322684 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Entropion PMID:25741868 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:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 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:13832 patent ductus arteriosus ISO RGD:1322684 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Patent ductus arteriosus PMID:25741868 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:1909 melanoma ISO RGD:1322684 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 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:2340 craniosynostosis ISO RGD:1322684 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Brachycephaly PMID:25741868 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:327 syringomyelia ISO RGD:1322684 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Syringomyelia PMID:25741868 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:4074 pancreatic adenocarcinoma ISO RGD:1322684 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:4362 cervical cancer ISO RGD:1322684 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 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:4702 mongolian spot ISO RGD:1322684 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Mongolian blue spot PMID:25741868 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:4947 cholangiocarcinoma ISO RGD:1322684 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:5041 esophageal cancer ISO RGD:1322684 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 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:5723 optic atrophy ISO RGD:1322684 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:25741868 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1322684 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:6171 uterine carcinosarcoma ISO RGD:1322684 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:630 genetic disease ISO RGD:1322684 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:27616479|PMID:28492532|PMID:31388190|PMID:32543371|PMID:9536098 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:674 cleft palate ISO RGD:1322684 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cleft palate PMID:25741868 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:8534 gastroesophageal reflux disease ISO RGD:1322684 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Gastroesophageal reflux PMID:25741868 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:9000123 Deglutition Disorders ISO RGD:1322684 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Dysphagia PMID:25741868 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:9000586 Vocal Cord Paralysis ISO RGD:1322684 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Unilateral vocal cord paralysis PMID:25741868 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:9001581 Constipation ISO RGD:1322684 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Constipation PMID:25741868 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:9002453 Cafe-au-Lait Spots ISO RGD:1322684 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cafe-au-lait spot 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:9002554 Tachycardia ISO RGD:1322684 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Tachycardia PMID:25741868 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:9003133 Hypertelorism ISO RGD:1322684 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:25741868 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:9003507 Premature Birth ISO RGD:1322684 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Premature birth PMID:25741868 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:9003591 Telecanthus ISO RGD:1322684 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Telecanthus PMID:25741868 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:9003816 Macrocephaly ISO RGD:1322684 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Macrocephaly PMID:25741868 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:9004538 Hearing Loss ISO RGD:1322684 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:25741868 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:9005539 Familial Prostate Cancer ISO RGD:1322684 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial prostate cancer 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:9005616 Micrognathism ISO RGD:1322684 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Micrognathia PMID:25741868 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:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1322684 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:9007661 Dwarfism ISO RGD:1322684 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 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:9008086 Developmental Disabilities ISO RGD:1322684 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:9008214 Genu Valgum ISO RGD:1322684 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Genu valgum 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:1322684 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:25741868 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:9008811 Tachypnea ISO RGD:1322684 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Tachypnea PMID:25741868 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1322684 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:9008965 Bronchomalacia ISO RGD:1322684 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Bronchomalacia PMID:25741868 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:9119 acute myeloid leukemia ISO RGD:1322684 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 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:930 orbital disease ISO RGD:1322684 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Proptosis PMID:25741868 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:936 brain disease ISO RGD:1322684 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Encephalopathy | ClinVar Annotator: match by term: Neonatal encephalopathy PMID:25741868 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:9840 esotropia ISO RGD:1322684 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Esotropia 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:9970 obesity ISO RGD:1322684 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Obesity PMID:25741868 8704464 Son SON DNA and RNA binding protein gene DOID:0050117 disease by infectious agent ISO RGD:1319118 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Recurrent infections 8704464 Son SON DNA and RNA binding protein gene DOID:0050758 metabolic acidosis ISO RGD:1319118 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Metabolic acidosis 8704464 Son SON DNA and RNA binding protein gene DOID:0060163 body dysmorphic disorder ISO RGD:1319118 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:25741868 8704464 Son SON DNA and RNA binding protein gene DOID:0060930 developmental dysplasia of the hip ISO RGD:1319118 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Developmental dysplasia of the hip 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 20260602 ClinVar ClinVar Annotator: match by term: SON-related condition | ClinVar Annotator: match by term: ZHU-TOKITA-TAKENOUCHI-KIM SYNDROME | ClinVar Annotator: match by term: ZTTK SYNDROME | ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868|PMID:27545676|PMID:27545680|PMID:28135719|PMID:28492532|PMID:32368696|PMID:34521999 8704464 Son SON DNA and RNA binding protein gene DOID:0070297 primary microcephaly ISO RGD:1319118 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Primary microcephaly PMID:25741868|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: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:10907 microcephaly ISO RGD:1319118 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 8704464 Son SON DNA and RNA binding protein gene DOID:11054 urinary bladder cancer ISO RGD:1319118 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8704464 Son SON DNA and RNA binding protein gene DOID:1115 sarcoma ISO RGD:1319118 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8704464 Son SON DNA and RNA binding protein gene DOID:12215 oligohydramnios ISO RGD:1319118 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Oligohydramnios PMID:25741868 8704464 Son SON DNA and RNA binding protein gene DOID:12849 autistic disorder ISO RGD:1319118 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior PMID:25741868 8704464 Son SON DNA and RNA binding protein gene DOID:1324 lung cancer ISO RGD:1319118 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8704464 Son SON DNA and RNA binding protein gene DOID:13620 patent foramen ovale ISO RGD:1319118 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Patent foramen ovale PMID:25741868 8704464 Son SON DNA and RNA binding protein gene DOID:1657 ventricular septal defect ISO RGD:1319118 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ventricular septal defect PMID:25741868 8704464 Son SON DNA and RNA binding protein gene DOID:1826 epilepsy ISO RGD:1319118 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Seizure 8704464 Son SON DNA and RNA binding protein gene DOID:1909 melanoma ISO RGD:1319118 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8704464 Son SON DNA and RNA binding protein gene DOID:1969 cerebral palsy ISO RGD:1319118 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cerebral palsy 8704464 Son SON DNA and RNA binding protein gene DOID:3275 thymoma ISO RGD:1319118 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8704464 Son SON DNA and RNA binding protein gene DOID:3650 lactic acidosis ISO RGD:1319118 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lactic acidosis 8704464 Son SON DNA and RNA binding protein gene DOID:4362 cervical cancer ISO RGD:1319118 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8704464 Son SON DNA and RNA binding protein gene DOID:5041 esophageal cancer ISO RGD:1319118 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8704464 Son SON DNA and RNA binding protein gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1319118 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma PMID:28492532 8704464 Son SON DNA and RNA binding protein gene DOID:630 genetic disease ISO RGD:1319118 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|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:9000064 Cardiac Arrhythmias ISO RGD:1319118 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Arrhythmia 8704464 Son SON DNA and RNA binding protein gene DOID:9000343 Vision Disorders ISO RGD:1319118 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Visual impairment PMID:25741868 8704464 Son SON DNA and RNA binding protein gene DOID:9001276 Failure to Thrive ISO RGD:1319118 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:25741868|PMID:27545676|PMID:27545680|PMID:28135719|PMID:28492532 8704464 Son SON DNA and RNA binding protein gene DOID:9001510 Funnel Chest ISO RGD:1319118 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Pectus excavatum 8704464 Son SON DNA and RNA binding protein gene DOID:9001733 Tinnitus ISO RGD:1319118 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Tinnitus 8704464 Son SON DNA and RNA binding protein gene DOID:9002231 Fetal Growth Retardation ISO RGD:1319118 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Intrauterine growth retardation 8704464 Son SON DNA and RNA binding protein gene DOID:9002554 Tachycardia ISO RGD:1319118 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Tachycardia 8704464 Son SON DNA and RNA binding protein gene DOID:9002775 Cognitive Dysfunction ISO RGD:1319118 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cognitive impairment 8704464 Son SON DNA and RNA binding protein gene DOID:9003133 Hypertelorism ISO RGD:1319118 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:25741868 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:9003507 Premature Birth ISO RGD:1319118 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Premature birth PMID:25741868|PMID:34521999 8704464 Son SON DNA and RNA binding protein gene DOID:9003539 Hyperacusis ISO RGD:1319118 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hyperacusis 8704464 Son SON DNA and RNA binding protein gene DOID:9003816 Macrocephaly ISO RGD:1319118 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Macrocephaly 8704464 Son SON DNA and RNA binding protein gene DOID:9004062 Hyperhidrosis ISO RGD:1319118 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hyperhidrosis 8704464 Son SON DNA and RNA binding protein gene DOID:9004538 Hearing Loss ISO RGD:1319118 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hearing loss PMID:25741868|PMID:28492532 8704464 Son SON DNA and RNA binding protein gene DOID:9004992 Apnea ISO RGD:1319118 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Apnea 8704464 Son SON DNA and RNA binding protein gene DOID:9005077 Joint Instability ISO RGD:1319118 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Joint hypermobility 8704464 Son SON DNA and RNA binding protein gene DOID:9005603 Muscle Hypotonia ISO RGD:1319118 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Hypotonia PMID:25741868|PMID:28492532 8704464 Son SON DNA and RNA binding protein gene DOID:9006534 Nervous System Malformations ISO RGD:1319118 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system 8704464 Son SON DNA and RNA binding protein gene DOID:9007661 Dwarfism ISO RGD:1319118 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 8704464 Son SON DNA and RNA binding protein gene DOID:9008086 Developmental Disabilities ISO RGD:1319118 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:27545676|PMID:27545680|PMID:28135719|PMID:28492532 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 8704464 Son SON DNA and RNA binding protein gene DOID:9008680 Respiratory Tract Infections ISO RGD:1319118 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Respiratory tract infection PMID:25741868 8704464 Son SON DNA and RNA binding protein gene DOID:9008952 Breast Cancer, Familial ISO RGD:1319118 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8704464 Son SON DNA and RNA binding protein gene DOID:9009021 Plagiocephaly ISO RGD:1319118 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Plagiocephaly 8704464 Son SON DNA and RNA binding protein gene DOID:9119 acute myeloid leukemia ISO RGD:1319118 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8704464 Son SON DNA and RNA binding protein gene DOID:9256 colorectal cancer ISO RGD:1319118 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colorectal cancer 8704464 Son SON DNA and RNA binding protein gene DOID:9834 hyperopia ISO RGD:1319118 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hypermetropia 8704481 Znf81 zinc finger protein 81 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1349324 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 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:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1349324 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8704490 Lcat lecithin-cholesterol acyltransferase gene DOID:10534 stomach cancer ISO RGD:737383 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:25741868 8704490 Lcat lecithin-cholesterol acyltransferase gene DOID:11054 urinary bladder cancer ISO RGD:737383 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8704490 Lcat lecithin-cholesterol acyltransferase gene DOID:1115 sarcoma ISO RGD:737383 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 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:1324 lung cancer ISO RGD:737383 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 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 20260602 ClinVar ClinVar Annotator: match by term: FISH-EYE DISEASE | ClinVar Annotator: match by term: Fish-eye disease | ClinVar Annotator: match by term: LCAT DEFICIENCY | 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:15297675|PMID:1588268|PMID:15994445|PMID:17526537|PMID:19687369|PMID:2052566|PMID:21901787|PMID:22090275|PMID:22629316|PMID:22701329|PMID:22923420|PMID:23023370|PMID:23236364|PMID:23412821|PMID:24503134|PMID:24507774|PMID:25741868|PMID:25948084|PMID:28492532|PMID:28983876|PMID:29083407|PMID:30201532|PMID:30333156|PMID:31164121|PMID:32041611|PMID:34604605|PMID:34789074|PMID:36644204|PMID:7658165|PMID:8432868|PMID:8620346|PMID:8807342|PMID:9101439|PMID:9180249|PMID:9261271 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:4362 cervical cancer ISO RGD:737383 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer PMID:25741868 8704490 Lcat lecithin-cholesterol acyltransferase gene DOID:5041 esophageal cancer ISO RGD:737383 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus PMID:25741868 8704490 Lcat lecithin-cholesterol acyltransferase gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:737383 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma PMID:25741868 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:6171 uterine carcinosarcoma ISO RGD:737383 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma PMID:25741868 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:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:737383 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 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:9351 diabetes mellitus ISO RGD:737383 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Diabetes mellitus PMID:25741868 8704505 Ube2l6 ubiquitin conjugating enzyme E2 L6 gene DOID:11054 urinary bladder cancer ISO RGD:1317456 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8704505 Ube2l6 ubiquitin conjugating enzyme E2 L6 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1317456 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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 8704505 Ube2l6 ubiquitin conjugating enzyme E2 L6 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1317456 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8704505 Ube2l6 ubiquitin conjugating enzyme E2 L6 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1317456 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 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:11054 urinary bladder cancer ISO RGD:734133 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8704512 Ncdn neurochondrin gene DOID:1909 melanoma ISO RGD:734133 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8704512 Ncdn neurochondrin gene DOID:3070 high grade glioma ISO RGD:734133 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Glioma susceptibility 1 8704512 Ncdn neurochondrin gene DOID:5041 esophageal cancer ISO RGD:734133 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8704512 Ncdn neurochondrin gene DOID:5419 schizophrenia ISO RGD:621734 D RGD:9068941 20250501 RGD protein:decreased expression:dorsolateral prefrontal cortex PMID:25778620|REF_RGD_ID:11054158 8704512 Ncdn neurochondrin gene DOID:5419 schizophrenia ISO RGD:734133 D RGD:9068941 20250501 RGD protein:increased expression:CA1 field of hippocampus PMID:26048293|REF_RGD_ID:11075927 8704512 Ncdn neurochondrin gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:734133 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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: NCDN-related disorder | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS | ClinVar Annotator: match by term: Neurodevelopmental disorder with infantile epileptic spasms PMID:25741868|PMID:33711248 8704512 Ncdn neurochondrin gene DOID:9006534 Nervous System Malformations ISO RGD:734133 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 8704538 Pxylp1 2-phosphoxylose phosphatase 1 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1342803 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8704538 Pxylp1 2-phosphoxylose phosphatase 1 gene DOID:10534 stomach cancer ISO RGD:1342803 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8704538 Pxylp1 2-phosphoxylose phosphatase 1 gene DOID:1115 sarcoma ISO RGD:1342803 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8704538 Pxylp1 2-phosphoxylose phosphatase 1 gene DOID:3070 high grade glioma ISO RGD:1342803 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Glioma susceptibility 1 8704538 Pxylp1 2-phosphoxylose phosphatase 1 gene DOID:5041 esophageal cancer ISO RGD:1342803 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8704538 Pxylp1 2-phosphoxylose phosphatase 1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1342803 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8704538 Pxylp1 2-phosphoxylose phosphatase 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1342803 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8704578 Fancb FA complementation group B gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1351449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma PMID:28492532 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:0050939 uterine corpus endometrial carcinoma ISO RGD:1351449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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 20260602 ClinVar ClinVar Annotator: match by term: FANCONI ANEMIA, COMPLEMENTATION GROUP B | ClinVar Annotator: match by term: FANCONI PANCYTOPENIA, TYPE 2 | ClinVar Annotator: match by term: Fanconi anemia complementation group B PMID:15502827|PMID:16679491|PMID:17924555|PMID:21910217|PMID:23613520|PMID:24033266|PMID:25168418|PMID:25741868|PMID:28492532|PMID:32106311|PMID:32546565 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: Hypothyroidism, central, and testicular enlargement | 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 association, X-linked, with or without hydrocephalus | ClinVar Annotator: match by term: VACTERL-H, X-LINKED PMID:24033266|PMID:25741868|PMID:28492532|PMID:32546565 8704578 Fancb FA complementation group B gene DOID:10534 stomach cancer ISO RGD:1351449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8704578 Fancb FA complementation group B gene DOID:11054 urinary bladder cancer ISO RGD:1351449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 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 20260519 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:36622392|PMID:9536098 8704578 Fancb FA complementation group B gene DOID:1612 breast cancer ISO RGD:1351449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Breast Cancer PMID:28492532|PMID:33558524 8704578 Fancb FA complementation group B gene DOID:1909 melanoma ISO RGD:1351449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8704578 Fancb FA complementation group B gene DOID:4362 cervical cancer ISO RGD:1351449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8704578 Fancb FA complementation group B gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1351449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 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:5746 ovarian serous cystadenocarcinoma ISO RGD:1351449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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:9001276 Failure to Thrive ISO RGD:1351449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:25741868|PMID:28492532 8704578 Fancb FA complementation group B gene DOID:9002532 Neonatal Hyperbilirubinemia ISO RGD:1351449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Neonatal hyperbilirubinemia PMID:28492532 8704578 Fancb FA complementation group B gene DOID:9003703 Coxa Valga ISO RGD:1351449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Coxa valga PMID:25741868|PMID:28492532 8704578 Fancb FA complementation group B gene DOID:9004083 Familial Pancreatic Carcinoma ISO RGD:1351449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial pancreatic carcinoma PMID:28492532 8704578 Fancb FA complementation group B gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1351449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8704578 Fancb FA complementation group B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1351449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:28492532 8704578 Fancb FA complementation group B gene DOID:9007661 Dwarfism ISO RGD:1351449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868|PMID:28492532 8704578 Fancb FA complementation group B gene DOID:9008952 Breast Cancer, Familial ISO RGD:1351449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:28492532 8704578 Fancb FA complementation group B gene DOID:9256 colorectal cancer ISO RGD:1351449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:28492532 8704588 Apcdd1l APC down-regulated 1 like gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1605849 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8704588 Apcdd1l APC down-regulated 1 like gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1605849 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:0050424 familial adenomatous polyposis ISO RGD:736238 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL 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:0050939 uterine corpus endometrial carcinoma ISO RGD:736238 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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: MUTYH-related attenuated familial adenomatous polyposis 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:10003 sensorineural hearing loss ISO RGD:736238 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868|PMID:28492532 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:10534 stomach cancer ISO RGD:736238 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer PMID:20077502|PMID:21344236|PMID:23334666|PMID:25741868|PMID:26010302|PMID:26467025|PMID:26483394|PMID:27009842|PMID:28050010|PMID:28174632|PMID:28492532|PMID:28724667|PMID:32566746|PMID:32832836|PMID:33471991|PMID:33498765|PMID:34326862|PMID:35892882|PMID:36988593|PMID:37688579|PMID:37762649 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:1115 sarcoma ISO RGD:736238 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:11830 myopia ISO RGD:736238 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Myopia PMID:25741868|PMID:28492532|PMID:31371347 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:1287 cardiovascular system disease ISO RGD:736238 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Abnormality of the cardiovascular system PMID:21344236|PMID:24033266|PMID:25741868|PMID:25994375|PMID:26329992|PMID:26467025|PMID:26787654|PMID:28492532|PMID:28821472|PMID:30374176|PMID:34824355 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:1324 lung cancer ISO RGD:736238 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:14566 disease of cellular proliferation ISO RGD:736238 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Neoplasm | ClinVar Annotator: match by term: tumor PMID:20077502|PMID:21344236|PMID:25452441|PMID:25741868|PMID:26845104|PMID:28492532|PMID:29478780|PMID:29758562|PMID:30925164|PMID:31371347|PMID:35101336|PMID:37149759|PMID:39684258 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:1520 colon carcinoma ISO RGD:736238 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon carcinoma PMID:25741868|PMID:26350354|PMID:28492532|PMID:31371347 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:1596 depressive disorder ISO RGD:736238 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Depression PMID:25741868|PMID:28492532 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 20250408 ClinVar 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: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:33099839|PMID:33118316|PMID:33309985|PMID:33471991|PMID:33498765|PMID:33598691|PMID:34196900|PMID:34326862|PMID:34371384|PMID:34754157|PMID:34824355|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 ISO RGD:736238 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: BARD1-related cancer predisposition | ClinVar Annotator: match by term: Breast cancer | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant tumor of breast PMID:12832489|PMID:15342711|PMID:16061562|PMID:16333312|PMID:16741161|PMID:17550235|PMID:17576681|PMID:17848578|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:21344236|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24454733|PMID:25085752|PMID:25186627|PMID:25318351|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|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:27009842|PMID:27153395|PMID:27443514|PMID:27498913|PMID:27720647|PMID:27878467|PMID:27978560|PMID:28050010|PMID:28135145|PMID:28174632|PMID:28492532|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28821472|PMID:28873162|PMID:28888541|PMID:29292755|PMID:29368341|PMID:29596542|PMID:29790872|PMID:29922827|PMID:30093976|PMID:30374176|PMID:30925164|PMID:31036035|PMID:31173646|PMID:31371347|PMID:31871109|PMID:32268276|PMID:32338768|PMID:32566746|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32986223|PMID:33099839|PMID:33118316|PMID:33309985|PMID:33471991|PMID:33498765|PMID:33598691|PMID:33606978|PMID:33804961|PMID:34102105|PMID:34196900|PMID:34326862|PMID:34824355|PMID:35402282|PMID:35626031|PMID:35892882|PMID:36187937|PMID:36845387|PMID:36988593|PMID:37688579|PMID:37762649|PMID:38990952|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:1826 epilepsy ISO RGD:736238 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Seizure PMID:21344236|PMID:24033266|PMID:25741868|PMID:25994375|PMID:26329992|PMID:26467025|PMID:26787654|PMID:28492532|PMID:28821472|PMID:30374176|PMID:34824355 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:1909 melanoma ISO RGD:736238 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:2030 anxiety disorder ISO RGD:736238 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Anxiety PMID:25741868|PMID:28492532 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:234 colon adenocarcinoma ISO RGD:736238 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:2394 ovarian cancer ISO RGD:736238 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:3275 thymoma ISO RGD:736238 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:3459 breast carcinoma ISO RGD:736238 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Breast carcinoma PMID:16199547|PMID:17550235|PMID:17848578|PMID:20077502|PMID:21344236|PMID:25452441|PMID:25741868|PMID:26315354|PMID:26350354|PMID:26467025|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26738429|PMID:28492532|PMID:28888541|PMID:29790872|PMID:30613976|PMID:30925164|PMID:31036035|PMID:31173646|PMID:31371347|PMID:33099839|PMID:33471991|PMID:33598691|PMID:35626031 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:4362 cervical cancer ISO RGD:736238 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:5041 esophageal cancer ISO RGD:736238 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 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: 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, 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: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:5683 hereditary breast ovarian cancer syndrome ISO RGD:736238 D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: BRCA1-related cancer predisposition | 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: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:31142030|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:32994724|PMID:33099839|PMID:33309985|PMID:33471991|PMID:33479248|PMID:33498765|PMID:33552952|PMID:33598691|PMID:33606809|PMID:33809641|PMID:34034685|PMID:34196900|PMID:34204722|PMID:34250417|PMID:34326862|PMID:34646395|PMID:34680878|PMID:34754157|PMID:34824355|PMID:34887416|PMID:34906988|PMID:35264596|PMID:35534704|PMID:35595798|PMID:35734982|PMID:35768576|PMID:35957908|PMID:36187937|PMID:36243179|PMID:36409970|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 20250506 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:24487277|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: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:30541756|PMID:30781715|PMID:30925164|PMID:30927264|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31142030|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:32994724|PMID:33099839|PMID:33309985|PMID:33471991|PMID:33479248|PMID:33498765|PMID:33552952|PMID:33598691|PMID:33606809|PMID:33809641|PMID:34034685|PMID:34196900|PMID:34204722|PMID:34250417|PMID:34326862|PMID:34646395|PMID:34680878|PMID:34754157|PMID:34824355|PMID:34887416|PMID:34906988|PMID:35264596|PMID:35534704|PMID:35595798|PMID:35734982|PMID:35768576|PMID:35884425|PMID:35957908|PMID:36187937|PMID:36243179|PMID:36409970|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 20250701 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: 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: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:24487277|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:30541756|PMID:30781715|PMID:30925164|PMID:30927264|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31142030|PMID:31159747|PMID:31275557|PMID:31317629|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:32994724|PMID:33099839|PMID:33309985|PMID:33471991|PMID:33479248|PMID:33498765|PMID:33552952|PMID:33598691|PMID:33606809|PMID:33809641|PMID:34034685|PMID:34196900|PMID:34204722|PMID:34250417|PMID:34326862|PMID:34646395|PMID:34680878|PMID:34754157|PMID:34824355|PMID:34887416|PMID:34906988|PMID:35264596|PMID:35534704|PMID:35595798|PMID:35734982|PMID:35768576|PMID:35884425|PMID:35957908|PMID:36187937|PMID:36243179|PMID:36315097|PMID:36409970|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 20260519 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: 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 | ClinVar Annotator: match by term: RAD51D-related cancer predisposition PMID:11807980|PMID:14550946|PMID:15342711|PMID:15855157|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16741161|PMID:17550235|PMID:17848578|PMID:17972171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:20842729|PMID:21344236|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24454733|PMID:24487277|PMID:25085752|PMID:25186627|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26738429|PMID:26787654|PMID:26976419|PMID:26979419|PMID:27009842|PMID:27153395|PMID:27720647|PMID:27878467|PMID:27978560|PMID:28050010|PMID:28135145|PMID:28174632|PMID:28492532|PMID:28724667|PMID:28821472|PMID:28888541|PMID:29292755|PMID:29338689|PMID:29367421|PMID:29752822|PMID:29790872|PMID:29905759|PMID:30374176|PMID:30441849|PMID:30925164|PMID:30982232|PMID:31036035|PMID:31159747|PMID:31173646|PMID:31275557|PMID:31317629|PMID:31371347|PMID:31666926|PMID:31843900|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32295079|PMID:32566746|PMID:32832836|PMID:32885271|PMID:32980694|PMID:33099839|PMID:33309985|PMID:33471991|PMID:33498765|PMID:33552952|PMID:33598691|PMID:33606809|PMID:33809641|PMID:34034685|PMID:34250417|PMID:34326862|PMID:34754157|PMID:34824355|PMID:35264596|PMID:35534704|PMID:35595798|PMID:35626031|PMID:35892882|PMID:36135357|PMID:36988593|PMID:37688579|PMID:37762649|PMID:38060977|PMID:38136308|PMID:38355628|PMID:39226054|PMID:9425226 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736238 D RGD:8554872 20260602 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: 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:14550946|PMID:15342711|PMID:15855157|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16741161|PMID:17550235|PMID:17848578|PMID:17972171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:20842729|PMID:21344236|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24454733|PMID:24487277|PMID:25085752|PMID:25186627|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26738429|PMID:26787654|PMID:26976419|PMID:26979419|PMID:27009842|PMID:27153395|PMID:27720647|PMID:27878467|PMID:27978560|PMID:28050010|PMID:28135145|PMID:28174632|PMID:28492532|PMID:28724667|PMID:28821472|PMID:28888541|PMID:29292755|PMID:29338689|PMID:29367421|PMID:29752822|PMID:29790872|PMID:29905759|PMID:30374176|PMID:30441849|PMID:30925164|PMID:30982232|PMID:31036035|PMID:31159747|PMID:31173646|PMID:31275557|PMID:31317629|PMID:31371347|PMID:31666926|PMID:31843900|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32566746|PMID:32832836|PMID:32885271|PMID:32980694|PMID:33099839|PMID:33309985|PMID:33471991|PMID:33498765|PMID:33552952|PMID:33598691|PMID:33606809|PMID:33809641|PMID:34034685|PMID:34250417|PMID:34326862|PMID:34754157|PMID:34824355|PMID:35264596|PMID:35534704|PMID:35595798|PMID:35626031|PMID:35892882|PMID:36135357|PMID:36988593|PMID:37688579|PMID:37762649|PMID:38060977|PMID:38136308|PMID:38355628|PMID:39226054|PMID:9425226 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:736238 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma PMID:28492532 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:684 hepatocellular carcinoma ISO RGD:736238 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 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:9001733 Tinnitus ISO RGD:736238 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Tinnitus PMID:21344236|PMID:24033266|PMID:25741868|PMID:25994375|PMID:26329992|PMID:26467025|PMID:26787654|PMID:28492532|PMID:28821472|PMID:30374176|PMID:34824355 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:9002265 Kidney Neoplasms ISO RGD:736238 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Renal neoplasm PMID:25085752|PMID:25741868|PMID:28492532 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:736238 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian neoplasm PMID:20077502|PMID:21344236|PMID:23334666|PMID:25741868|PMID:26010302|PMID:26467025|PMID:26483394|PMID:27009842|PMID:28050010|PMID:28174632|PMID:28492532|PMID:28724667|PMID:32566746|PMID:32832836|PMID:33471991|PMID:33498765|PMID:34326862|PMID:35892882|PMID:36988593|PMID:37688579|PMID:37762649 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:9004083 Familial Pancreatic Carcinoma ISO RGD:736238 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial pancreatic carcinoma PMID:25085752|PMID:25741868|PMID:26315354|PMID:26467025|PMID:28492532|PMID:30925164 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:9006534 Nervous System Malformations ISO RGD:736238 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:21344236|PMID:24033266|PMID:25741868|PMID:25994375|PMID:26329992|PMID:26467025|PMID:26787654|PMID:28492532|PMID:28821472|PMID:30374176|PMID:31371347|PMID:34824355 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:736238 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 PMID:25085752|PMID:25741868|PMID:26467025|PMID:26787654|PMID:26976419|PMID:27720647|PMID:28492532|PMID:30925164|PMID:31159747|PMID:31275557|PMID:32039725|PMID:33471991|PMID:35264596|PMID:35534704|PMID:35595798|PMID:39226054 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 20260519 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:1|PMID:11807980|PMID:14550946|PMID:15342711|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16651405|PMID:16741161|PMID:16825437|PMID:17550235|PMID:17576681|PMID:17848578|PMID:17972171|PMID:18842000|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:20379136|PMID:20842729|PMID:21344236|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24454733|PMID:25085752|PMID:25186627|PMID:25318351|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26022179|PMID:26083025|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26546047|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26738429|PMID:26757417|PMID:26787654|PMID:26898890|PMID:26976419|PMID:26979419|PMID:27009842|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27720647|PMID:27878467|PMID:27978560|PMID:28030839|PMID:28050010|PMID:28135145|PMID:28152038|PMID:28174632|PMID:28486781|PMID:28492532|PMID:28569743|PMID:28709830|PMID:28715532|PMID:28724667|PMID:28726808|PMID:28821472|PMID:28828701|PMID:28873162|PMID:28888541|PMID:28912018|PMID:28976962|PMID:29025590|PMID:29292755|PMID:29367421|PMID:29596542|PMID:29667044|PMID:29752822|PMID:29790872|PMID:29868112|PMID:29915797|PMID:30093976|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30833958|PMID:30925164|PMID:31036035|PMID:31159747|PMID:31173646|PMID:31275557|PMID:31317629|PMID:31371347|PMID:31465090|PMID:31512090|PMID:31742824|PMID:31803232|PMID:31843900|PMID:31871109|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32268276|PMID:32283892|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32658311|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32980694|PMID:33099839|PMID:33118316|PMID:33309985|PMID:33471991|PMID:33498765|PMID:33552952|PMID:33598691|PMID:33606809|PMID:33606978|PMID:33621668|PMID:33646313|PMID:33804961|PMID:33809641|PMID:34034685|PMID:34102105|PMID:34250417|PMID:34321665|PMID:34326862|PMID:34824355|PMID:34906988|PMID:35264596|PMID:35402282|PMID:35534704|PMID:35595798|PMID:35626031|PMID:35884425|PMID:35892882|PMID:35980532|PMID:36187937|PMID:36243179|PMID:36551643|PMID:36980780|PMID:36988593|PMID:37688579|PMID:37762649|PMID:38060977|PMID:38136308|PMID:39226054|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:9007736 Vertigo ISO RGD:736238 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Vertigo PMID:21344236|PMID:24033266|PMID:25741868|PMID:25994375|PMID:26329992|PMID:26467025|PMID:26787654|PMID:28492532|PMID:28821472|PMID:30374176|PMID:34824355 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:9008939 Breast Neoplasms ISO RGD:736238 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Breast neoplasm PMID:25741868|PMID:28492532 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: 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: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:9536098 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:736238 D RGD:8554872 20250506 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:1|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:25326637|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:26083025|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:31142030|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:32994724|PMID:33099839|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:34204722|PMID:34250417|PMID:34321665|PMID:34326862|PMID:34359559|PMID:34371384|PMID:34646395|PMID:34680878|PMID:34754157|PMID:34789768|PMID:34824355|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:36409970|PMID:36551643|PMID:36672847|PMID:36833268|PMID:36896836|PMID:36922933|PMID:36980780|PMID:36988593|PMID:37149759|PMID:37239058 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:736238 D RGD:8554872 20250506 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: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 20260602 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:14550946|PMID:14560035|PMID:14578343|PMID:15342711|PMID:15782130|PMID:15855157|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16651405|PMID:16741161|PMID:16825437|PMID:17550235|PMID:17576681|PMID:17848578|PMID:17972171|PMID:18842000|PMID:19197335|PMID:19412175|PMID:19584272|PMID:19763152|PMID:20077502|PMID:20307669|PMID:20379136|PMID:20842729|PMID:21344236|PMID:22006311|PMID:22406018|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24454733|PMID:25058500|PMID:25085752|PMID:25186627|PMID:25318351|PMID:25452441|PMID:25640679|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26022179|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26546047|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26738429|PMID:26757417|PMID:26787654|PMID:26898890|PMID:26976419|PMID:26979419|PMID:27009842|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27720647|PMID:27878467|PMID:27978560|PMID:28030839|PMID:28050010|PMID:28135145|PMID:28152038|PMID:28174632|PMID:28486781|PMID:28492532|PMID:28569743|PMID:28709830|PMID:28715532|PMID:28724667|PMID:28726808|PMID:28821472|PMID:28828701|PMID:28873162|PMID:28888541|PMID:29180619|PMID:29292755|PMID:29367421|PMID:29596542|PMID:29752822|PMID:29790872|PMID:29915797|PMID:29922827|PMID:29978187|PMID:30093976|PMID:30130155|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30925164|PMID:30982232|PMID:31036035|PMID:31159747|PMID:31173646|PMID:31275557|PMID:31317629|PMID:31371347|PMID:31465090|PMID:31512090|PMID:31803232|PMID:31843900|PMID:31871109|PMID:32039725|PMID:32068069|PMID:32268276|PMID:32283892|PMID:32318955|PMID:32338768|PMID:32427313|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32720237|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32957588|PMID:33099839|PMID:33118316|PMID:33309985|PMID:33471991|PMID:33498765|PMID:33552952|PMID:33598691|PMID:33606809|PMID:33606978|PMID:33646313|PMID:33804961|PMID:33809641|PMID:33933153|PMID:34034685|PMID:34102105|PMID:34250417|PMID:34321665|PMID:34326862|PMID:34789768|PMID:34824355|PMID:35101336|PMID:35264596|PMID:35273153|PMID:35402282|PMID:35534704|PMID:35595798|PMID:35626031|PMID:35884425|PMID:35892882|PMID:35957908|PMID:35980532|PMID:36113475|PMID:36187937|PMID:36243179|PMID:36980780|PMID:36988593|PMID:37688579|PMID:37762649|PMID:38060977|PMID:38355628|PMID:39226054|PMID:9425226|PMID:9536098 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:9119 acute myeloid leukemia ISO RGD:736238 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:28492532 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:9256 colorectal cancer ISO RGD:736238 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:25741868|PMID:26350354|PMID:28492532|PMID:31371347 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:4362 cervical cancer ISO RGD:1605966 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8704622 Cenpk centromere protein K gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1605966 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8704622 Cenpk centromere protein K gene DOID:9008952 Breast Cancer, Familial ISO RGD:1605966 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8704622 Cenpk centromere protein K gene DOID:9256 colorectal cancer ISO RGD:1605966 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colorectal cancer 8704636 Shf Src homology 2 domain containing F gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1602197 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8704636 Shf Src homology 2 domain containing F gene DOID:10534 stomach cancer ISO RGD:1602197 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8704636 Shf Src homology 2 domain containing F gene DOID:1115 sarcoma ISO RGD:1602197 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8704636 Shf Src homology 2 domain containing F gene DOID:1324 lung cancer ISO RGD:1602197 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8704636 Shf Src homology 2 domain containing F gene DOID:5041 esophageal cancer ISO RGD:1602197 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8704636 Shf Src homology 2 domain containing F gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1602197 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8704659 Mif4gd MIF4G domain containing gene DOID:11054 urinary bladder cancer ISO RGD:1606529 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8704659 Mif4gd MIF4G domain containing gene DOID:1324 lung cancer ISO RGD:1606529 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8704659 Mif4gd MIF4G domain containing gene DOID:4362 cervical cancer ISO RGD:1606529 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8704659 Mif4gd MIF4G domain containing gene DOID:5557 testicular germ cell cancer ISO RGD:1606529 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Germ cell tumor of testis 8704659 Mif4gd MIF4G domain containing gene DOID:9003654 Testicular Germ Cell Tumor ISO RGD:1606529 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Germ cell tumor of testis 8704659 Mif4gd MIF4G domain containing gene DOID:9008952 Breast Cancer, Familial ISO RGD:1606529 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8704678 Llph LLP homolog, long-term synaptic facilitation factor gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1604260 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8704678 Llph LLP homolog, long-term synaptic facilitation factor gene DOID:10534 stomach cancer ISO RGD:1604260 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8704678 Llph LLP homolog, long-term synaptic facilitation factor gene DOID:11054 urinary bladder cancer ISO RGD:1604260 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8704678 Llph LLP homolog, long-term synaptic facilitation factor gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1604260 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8704678 Llph LLP homolog, long-term synaptic facilitation factor gene DOID:6039 uveal melanoma ISO RGD:1604260 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uveal melanoma 8704678 Llph LLP homolog, long-term synaptic facilitation factor gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1604260 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8704678 Llph LLP homolog, long-term synaptic facilitation factor gene DOID:9119 acute myeloid leukemia ISO RGD:1604260 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 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 syndrome 8704693 Ssh3 slingshot protein phosphatase 3 gene DOID:11054 urinary bladder cancer ISO RGD:1318592 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8704693 Ssh3 slingshot protein phosphatase 3 gene DOID:1115 sarcoma ISO RGD:1318592 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8704693 Ssh3 slingshot protein phosphatase 3 gene DOID:1324 lung cancer ISO RGD:1318592 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8704693 Ssh3 slingshot protein phosphatase 3 gene DOID:1909 melanoma ISO RGD:1318592 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8704693 Ssh3 slingshot protein phosphatase 3 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1318592 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma 8704693 Ssh3 slingshot protein phosphatase 3 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1318592 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 8704693 Ssh3 slingshot protein phosphatase 3 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1318592 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 8704693 Ssh3 slingshot protein phosphatase 3 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1318592 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8704693 Ssh3 slingshot protein phosphatase 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1318592 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8704693 Ssh3 slingshot protein phosphatase 3 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1318592 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8704693 Ssh3 slingshot protein phosphatase 3 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1318592 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8704724 Tsnaxip1 translin associated factor X interacting protein 1 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1348366 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8704724 Tsnaxip1 translin associated factor X interacting protein 1 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1348366 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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: Prostate cancer PMID:23265383 8704724 Tsnaxip1 translin associated factor X interacting protein 1 gene DOID:10283 prostate cancer ISO RGD:1348366 D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 8704724 Tsnaxip1 translin associated factor X interacting protein 1 gene DOID:11054 urinary bladder cancer ISO RGD:1348366 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8704724 Tsnaxip1 translin associated factor X interacting protein 1 gene DOID:1909 melanoma ISO RGD:1348366 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8704724 Tsnaxip1 translin associated factor X interacting protein 1 gene DOID:234 colon adenocarcinoma ISO RGD:1348366 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8704724 Tsnaxip1 translin associated factor X interacting protein 1 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1348366 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 8704724 Tsnaxip1 translin associated factor X interacting protein 1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1348366 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8704724 Tsnaxip1 translin associated factor X interacting protein 1 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1348366 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8704724 Tsnaxip1 translin associated factor X interacting protein 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1348366 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8704777 Myo1b myosin IB gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:735320 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8704777 Myo1b myosin IB gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:735320 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8704777 Myo1b myosin IB gene DOID:11054 urinary bladder cancer ISO RGD:735320 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8704777 Myo1b myosin IB gene DOID:1115 sarcoma ISO RGD:735320 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8704777 Myo1b myosin IB gene DOID:234 colon adenocarcinoma ISO RGD:735320 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8704777 Myo1b myosin IB gene DOID:3907 lung squamous cell carcinoma ISO RGD:735320 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma 8704777 Myo1b myosin IB gene DOID:4362 cervical cancer ISO RGD:735320 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8704777 Myo1b myosin IB gene DOID:4467 clear cell renal cell carcinoma ISO RGD:735320 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 8704777 Myo1b myosin IB gene DOID:5041 esophageal cancer ISO RGD:735320 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8704777 Myo1b myosin IB gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:735320 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8704777 Myo1b myosin IB gene DOID:684 hepatocellular carcinoma ISO RGD:735320 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 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:9005024 Hereditary Adrenocortical Carcinoma ISO RGD:735320 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary 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:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:735320 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8704777 Myo1b myosin IB gene DOID:9008952 Breast Cancer, Familial ISO RGD:735320 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 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:0050939 uterine corpus endometrial carcinoma ISO RGD:1606566 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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:1909 melanoma ISO RGD:1606566 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 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:3275 thymoma ISO RGD:1606566 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 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:5746 ovarian serous cystadenocarcinoma ISO RGD:1606566 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8704832 Bace1 beta-secretase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1606566 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 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: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:9008952 Breast Cancer, Familial ISO RGD:1606566 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8704832 Bace1 beta-secretase 1 gene DOID:9009105 HIV Encephalitis ISO RGD:1606566 D RGD:9068941 20200609 RGD PMID:29632166|REF_RGD_ID:13782045 8704832 Bace1 beta-secretase 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1606566 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 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: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: 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:10534 stomach cancer ISO RGD:1320387 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8704858 Serpinb8 serpin family B member 8 gene DOID:4362 cervical cancer ISO RGD:1320387 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8704858 Serpinb8 serpin family B member 8 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1320387 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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 8704858 Serpinb8 serpin family B member 8 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1320387 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8704877 LOC102028532 cytochrome b561 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1322199 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8704877 LOC102028532 cytochrome b561 gene DOID:3275 thymoma ISO RGD:1322199 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8704877 LOC102028532 cytochrome b561 gene DOID:4362 cervical cancer ISO RGD:1322199 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8704877 LOC102028532 cytochrome b561 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1322199 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 8704877 LOC102028532 cytochrome b561 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1322199 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 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 20260602 ClinVar ClinVar Annotator: match by term: ORTHOSTATIC HYPOTENSION 2 8704965 Cfap95 cilia and flagella associated protein 95 gene DOID:1324 lung cancer ISO RGD:1605872 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8704965 Cfap95 cilia and flagella associated protein 95 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1605872 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8704965 Cfap95 cilia and flagella associated protein 95 gene DOID:9004083 Familial Pancreatic Carcinoma ISO RGD:1605872 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial pancreatic carcinoma 8704975 Raph1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1318125 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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:10283 prostate cancer ISO RGD:1318125 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prostate cancer PMID:23265383 8704975 Raph1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 gene DOID:10283 prostate cancer ISO RGD:1318125 D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 8704975 Raph1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 gene DOID:10534 stomach cancer ISO RGD:1318125 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8704975 Raph1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 gene DOID:11054 urinary bladder cancer ISO RGD:1318125 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8704975 Raph1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 gene DOID:1470 major depressive disorder ISO RGD:1318125 D RGD:9068941 20260305 RGD mRNA:decreased expression:blood PMID:25226551|REF_RGD_ID:634888054 8704975 Raph1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 gene DOID:1909 melanoma ISO RGD:1318125 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8704975 Raph1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 gene DOID:3275 thymoma ISO RGD:1318125 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8704975 Raph1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 gene DOID:5041 esophageal cancer ISO RGD:1318125 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8704975 Raph1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1318125 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8704975 Raph1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1318125 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8704975 Raph1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1318125 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8704996 Tmem108 transmembrane protein 108 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1604309 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8704996 Tmem108 transmembrane protein 108 gene DOID:1909 melanoma ISO RGD:1604309 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8704996 Tmem108 transmembrane protein 108 gene DOID:3070 high grade glioma ISO RGD:1604309 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Glioma susceptibility 1 8704996 Tmem108 transmembrane protein 108 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1604309 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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 20260602 ClinVar ClinVar Annotator: match by term: FSCN2-related condition | ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 30 | ClinVar Annotator: match by term: Retinitis pigmentosa 30 PMID:25741868|PMID:28492532 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:11830 myopia ISO RGD:1319003 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Myopia 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:5041 esophageal cancer ISO RGD:1319003 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 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 20260519 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532|PMID:33946315 8705018 Fscn2 fascin actin-bundling protein 2, retinal gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1319003 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8705018 Fscn2 fascin actin-bundling protein 2, retinal gene DOID:9849 Meniere's disease ISO RGD:1319003 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Meniere disease 8705018 Fscn2 fascin actin-bundling protein 2, retinal gene DOID:9970 obesity ISO RGD:1319003 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Obesity PMID:28492532 8705041 Tomm5 translocase of outer mitochondrial membrane 5 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1347873 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8705041 Tomm5 translocase of outer mitochondrial membrane 5 gene DOID:684 hepatocellular carcinoma ISO RGD:1347873 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8705041 Tomm5 translocase of outer mitochondrial membrane 5 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1347873 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 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:0050387 nonpapillary renal cell carcinoma ISO RGD:735722 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8705067 Rab10 RAB10, member RAS oncogene family gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:735722 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8705067 Rab10 RAB10, member RAS oncogene family gene DOID:0081250 CIC-rearranged sarcoma ISO RGD:735722 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: CIC-DUX Sarcoma 8705067 Rab10 RAB10, member RAS oncogene family gene DOID:234 colon adenocarcinoma ISO RGD:735722 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8705067 Rab10 RAB10, member RAS oncogene family gene DOID:3907 lung squamous cell carcinoma ISO RGD:735722 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma 8705067 Rab10 RAB10, member RAS oncogene family gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:735722 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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 8705067 Rab10 RAB10, member RAS oncogene family gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:735722 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8705067 Rab10 RAB10, member RAS oncogene family gene DOID:9008952 Breast Cancer, Familial ISO RGD:735722 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8705077 Scara5 scavenger receptor class A member 5 gene DOID:1324 lung cancer ISO RGD:1606661 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8705077 Scara5 scavenger receptor class A member 5 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1606661 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8705090 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:0050451 Brugada syndrome ISO RGD:1350483 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:19522081|PMID:25741868|PMID:28488083|PMID:28492532|PMID:31440721|PMID:39616287 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:0050939 uterine corpus endometrial carcinoma ISO RGD:1350483 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma PMID:28492532 8705090 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:0060170 generalized epilepsy with febrile seizures plus ISO RGD:737154 D RGD:9068941 20260521 MouseDO OMIM:604233 | OMIM:604403 | OMIM:609800 | OMIM:611277 | OMIM:612279 | OMIM:613828 | OMIM:613863 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: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 20260616 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 52 | 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:12644745|PMID:14504340|PMID:14690046|PMID:15021241|PMID:15857929|PMID:16199547|PMID:16205844|PMID:16302872|PMID:16932562|PMID:17020904|PMID:17629415|PMID:17928445|PMID:18052691|PMID:18175077|PMID:18941776|PMID:19522081|PMID:19710327|PMID:19808477|PMID:20437590|PMID:20628201|PMID:21040232|PMID:21703448|PMID:21994374|PMID:22292491|PMID:22425777|PMID:23527921|PMID:23584539|PMID:24065921|PMID:24567321|PMID:24605816|PMID:24623842|PMID:24747835|PMID:2486163|PMID:25253298|PMID:25421039|PMID:25741868|PMID:25827112|PMID:26467025|PMID:27207958|PMID:27216889|PMID:27277800|PMID:28218389|PMID:28331474|PMID:28492532|PMID:28681755|PMID:28717674|PMID:29056246|PMID:29655203|PMID:29758173|PMID:30660056|PMID:31069529|PMID:31440721|PMID:31980526|PMID:32192759|PMID:32466254|PMID:32931854|PMID:34628405|PMID:36011376|PMID:36288729|PMID:36291443|PMID:38174099|PMID:38880818|PMID:39363051|PMID:39787995|PMID:9461582|PMID:9539778|PMID:9697698 8705090 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1350483 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:28492532 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 20260616 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:11254444|PMID:11263970|PMID:11866477|PMID:12011299|PMID:12486163|PMID:12644745|PMID:14504340|PMID:14690046|PMID:15021241|PMID:15857929|PMID:16199547|PMID:16205844|PMID:16302872|PMID:16932562|PMID:17020904|PMID:17576681|PMID:17629415|PMID:17928445|PMID:18052691|PMID:18175077|PMID:18464934|PMID:18941776|PMID:19522081|PMID:19710327|PMID:19808477|PMID:20437590|PMID:20628201|PMID:21040232|PMID:21703448|PMID:21994374|PMID:22247482|PMID:22292491|PMID:22425777|PMID:23148524|PMID:23527921|PMID:23584539|PMID:24065921|PMID:24529773|PMID:24567321|PMID:24605816|PMID:24623842|PMID:24747835|PMID:24848745|PMID:2486163|PMID:24981977|PMID:25253298|PMID:25421039|PMID:25741868|PMID:25827112|PMID:25998140|PMID:26129877|PMID:26467025|PMID:26704558|PMID:27207958|PMID:27216889|PMID:27277800|PMID:27707468|PMID:28074886|PMID:28218389|PMID:28331474|PMID:28449774|PMID:28492532|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:31440721|PMID:31729702|PMID:31980526|PMID:32192759|PMID:32466254|PMID:32593896|PMID:32613771|PMID:32651551|PMID:33049752|PMID:33552729|PMID:33901312|PMID:34034907|PMID:34628405|PMID:35886038|PMID:36011376|PMID:36288729|PMID:36291443|PMID:36413997|PMID:37845033|PMID:38174099|PMID:38539105|PMID:38880818|PMID:39363051|PMID:39787995|PMID:9461582|PMID:9536098|PMID:9539778|PMID:9697698 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 20260616 ClinVar ClinVar Annotator: match by term: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1 | ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 1 PMID:11254444|PMID:11263970|PMID:11866477|PMID:12011299|PMID:12486163|PMID:12644745|PMID:14504340|PMID:14690046|PMID:15021241|PMID:15857929|PMID:16199547|PMID:16205844|PMID:16302872|PMID:16932562|PMID:17020904|PMID:17629415|PMID:17928445|PMID:18052691|PMID:18175077|PMID:18941776|PMID:19710327|PMID:19808477|PMID:20437590|PMID:20628201|PMID:21040232|PMID:21703448|PMID:21994374|PMID:22292491|PMID:22425777|PMID:23527921|PMID:23584539|PMID:24065921|PMID:24567321|PMID:24605816|PMID:24623842|PMID:24747835|PMID:24848745|PMID:2486163|PMID:25421039|PMID:25741868|PMID:25827112|PMID:26467025|PMID:26704558|PMID:27216889|PMID:27277800|PMID:28218389|PMID:28331474|PMID:28492532|PMID:28681755|PMID:28717674|PMID:29056246|PMID:29655203|PMID:29758173|PMID:30660056|PMID:31069529|PMID:31440721|PMID:31980526|PMID:32192759|PMID:32466254|PMID:32651551|PMID:33901312|PMID:34628405|PMID:36011376|PMID:36288729|PMID:36291443|PMID:38174099|PMID:38539105|PMID:38880818|PMID:39363051|PMID:39787995|PMID:9461582|PMID:9539778|PMID:9697698 8705090 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:10273 heart conduction disease ISO RGD:1350483 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Conduction system disorder PMID:25741868 8705090 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:10907 microcephaly ISO RGD:1350483 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:19710327|PMID:25741868|PMID:28492532|PMID:28681755|PMID:39787995 8705090 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1350483 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Attention deficit hyperactivity disorder PMID:11254444|PMID:11263970|PMID:11866477|PMID:12011299|PMID:12486163|PMID:12644745|PMID:14504340|PMID:14690046|PMID:15021241|PMID:15857929|PMID:16205844|PMID:16302872|PMID:16932562|PMID:17020904|PMID:17629415|PMID:17928445|PMID:18052691|PMID:18175077|PMID:18941776|PMID:19710327|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:2486163|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 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:12849 autistic disorder ISO RGD:1350483 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior PMID:11254444|PMID:11263970|PMID:11866477|PMID:12011299|PMID:12486163|PMID:12644745|PMID:14504340|PMID:14690046|PMID:15021241|PMID:15857929|PMID:16205844|PMID:16302872|PMID:16932562|PMID:17020904|PMID:17629415|PMID:17928445|PMID:18052691|PMID:18175077|PMID:18941776|PMID:19710327|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:2486163|PMID:25421039|PMID:25741868|PMID:25827112|PMID:26467025|PMID:27216889|PMID:27277800|PMID:28331474|PMID:28492532|PMID:28717674|PMID:29056246|PMID:29358611|PMID:29758173|PMID:32466254|PMID:33901312|PMID:36288729|PMID:36291443|PMID:9461582|PMID:9539778|PMID:9697698 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 20260519 ClinVar ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:19710327|PMID:25741868|PMID:28492532|PMID:28681755|PMID:39787995 8705090 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:1827 generalized epilepsy ISO RGD:1350483 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Generalized-onset seizure PMID:11254444|PMID:11263970|PMID:11866477|PMID:12011299|PMID:12486163|PMID:12644745|PMID:14504340|PMID:14690046|PMID:15021241|PMID:15857929|PMID:16205844|PMID:16302872|PMID:16932562|PMID:17020904|PMID:17629415|PMID:17928445|PMID:18052691|PMID:18175077|PMID:18941776|PMID:19710327|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:2486163|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 8705090 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:1909 melanoma ISO RGD:1350483 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma PMID:17576681|PMID:26467025|PMID:28492532|PMID:9536098 8705090 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:2843 long QT syndrome ISO RGD:1350483 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868 8705090 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:4362 cervical cancer ISO RGD:1350483 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8705090 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1350483 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8705090 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:6039 uveal melanoma ISO RGD:1350483 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uveal melanoma PMID:17576681|PMID:26467025|PMID:28492532|PMID:9536098 8705090 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:7998 hyperthyroidism ISO RGD:1350483 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hyperthyroidism PMID:28492532 8705090 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:9000060 Cardiac Conduction Defect, Nonspecific ISO RGD:1350483 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: CARDIAC CONDUCTION DEFECT, NONSPECIFIC 8705090 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1350483 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Arrhythmia PMID:24033266|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:9001276 Failure to Thrive ISO RGD:1350483 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:11254444|PMID:11263970|PMID:11866477|PMID:12011299|PMID:12486163|PMID:12644745|PMID:14504340|PMID:14690046|PMID:15021241|PMID:15857929|PMID:16205844|PMID:16302872|PMID:16932562|PMID:17020904|PMID:17629415|PMID:17928445|PMID:18052691|PMID:18175077|PMID:18941776|PMID:19710327|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:2486163|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 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 20260616 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 13 PMID:11254444|PMID:11263970|PMID:11866477|PMID:12011299|PMID:12486163|PMID:12644745|PMID:14504340|PMID:14690046|PMID:15021241|PMID:15857929|PMID:16205844|PMID:16302872|PMID:16932562|PMID:17020904|PMID:17629415|PMID:17928445|PMID:18052691|PMID:18175077|PMID:18464934|PMID:18941776|PMID:19710327|PMID:19808477|PMID:20437590|PMID:20628201|PMID:21040232|PMID:21703448|PMID:21994374|PMID:22247482|PMID:22292491|PMID:22425777|PMID:23527921|PMID:23584539|PMID:24065921|PMID:24567321|PMID:24605816|PMID:24623842|PMID:24747835|PMID:2486163|PMID:25421039|PMID:25741868|PMID:25827112|PMID:26467025|PMID:27216889|PMID:27277800|PMID:28331474|PMID:28449774|PMID:28492532|PMID:28681755|PMID:28717674|PMID:29056246|PMID:29655203|PMID:29758173|PMID:31069529|PMID:31440721|PMID:31980526|PMID:32192759|PMID:32466254|PMID:34628405|PMID:36011376|PMID:36288729|PMID:36291443|PMID:38174099|PMID:38880818|PMID:39363051|PMID:39787995|PMID:9461582|PMID:9539778|PMID:9697698 8705090 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:9005162 Familial Atrial Fibrillation 1 ISO RGD:1350483 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 1 PMID:28492532 8705090 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:1350483 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:25741868|PMID:28492532|PMID:29358611|PMID:29758173|PMID:33901312 8705090 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1350483 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 PMID:28492532 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:9008086 Developmental Disabilities ISO RGD:1350483 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:19710327|PMID:25741868|PMID:28492532|PMID:28681755|PMID:39787995 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:0050939 uterine corpus endometrial carcinoma ISO RGD:1316849 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8705109 Mrpl48 mitochondrial ribosomal protein L48 gene DOID:1115 sarcoma ISO RGD:1316849 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8705109 Mrpl48 mitochondrial ribosomal protein L48 gene DOID:1909 melanoma ISO RGD:1316849 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8705109 Mrpl48 mitochondrial ribosomal protein L48 gene DOID:4074 pancreatic adenocarcinoma ISO RGD:1316849 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma 8705109 Mrpl48 mitochondrial ribosomal protein L48 gene DOID:4362 cervical cancer ISO RGD:1316849 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8705109 Mrpl48 mitochondrial ribosomal protein L48 gene DOID:4947 cholangiocarcinoma ISO RGD:1316849 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 8705109 Mrpl48 mitochondrial ribosomal protein L48 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1316849 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8705109 Mrpl48 mitochondrial ribosomal protein L48 gene DOID:6171 uterine carcinosarcoma ISO RGD:1316849 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8705109 Mrpl48 mitochondrial ribosomal protein L48 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1316849 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8705109 Mrpl48 mitochondrial ribosomal protein L48 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1316849 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 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 20260519 ClinVar ClinVar Annotator: match by term: ABHD5-related condition | ClinVar Annotator: match by term: CHANARIN-DORFMAN SYNDROME | ClinVar Annotator: match by term: Chanarin-Dorfman Syndrome | ClinVar Annotator: match by term: Chanarin-Dorfman syndrome | ClinVar Annotator: match by term: Dorfman-Chanarin disease | 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:22373837|PMID:25741868|PMID:26547112|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:0050729 Chanarin-Dorfman syndrome ISO RGD:1342875 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: ABHD5-related condition | ClinVar Annotator: match by term: CHANARIN-DORFMAN SYNDROME | ClinVar Annotator: match by term: Chanarin-Dorfman Syndrome | ClinVar Annotator: match by term: Chanarin-Dorfman syndrome | ClinVar Annotator: match by term: Dorfman-Chanarin disease | ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis PMID:11590543|PMID:14708602|PMID:16199547|PMID:18339307|PMID:18682927|PMID:22373837|PMID:25741868|PMID:26547112|PMID:27025581|PMID:28492532|PMID:29130490|PMID:31883530|PMID:6181472 8705126 Abhd5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1342875 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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:1697 ichthyosis ISO RGD:1342875 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ichthyosis PMID:22373837|PMID:25741868|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:3275 thymoma ISO RGD:1342875 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8705126 Abhd5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase gene DOID:4074 pancreatic adenocarcinoma ISO RGD:1342875 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma 8705126 Abhd5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase gene DOID:4362 cervical cancer ISO RGD:1342875 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8705126 Abhd5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1342875 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8705126 Abhd5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase gene DOID:630 genetic disease ISO RGD:1342875 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8705126 Abhd5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase gene DOID:9006215 Exfoliative Dermatitis ISO RGD:1342875 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Erythroderma PMID:22373837|PMID:25741868|PMID:28492532 8705149 Rps6kl1 ribosomal protein S6 kinase like 1 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1319861 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8705149 Rps6kl1 ribosomal protein S6 kinase like 1 gene DOID:1115 sarcoma ISO RGD:1319861 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8705149 Rps6kl1 ribosomal protein S6 kinase like 1 gene DOID:1324 lung cancer ISO RGD:1319861 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8705149 Rps6kl1 ribosomal protein S6 kinase like 1 gene DOID:1909 melanoma ISO RGD:1319861 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8705149 Rps6kl1 ribosomal protein S6 kinase like 1 gene DOID:3275 thymoma ISO RGD:1319861 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8705149 Rps6kl1 ribosomal protein S6 kinase like 1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1319861 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8705149 Rps6kl1 ribosomal protein S6 kinase like 1 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1319861 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8705149 Rps6kl1 ribosomal protein S6 kinase like 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1319861 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8705185 Pot1 protection of telomeres 1 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1557758 D RGD:9068941 20260625 MouseDO 8705185 Pot1 protection of telomeres 1 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1344340 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma PMID:16199547|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32155570 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:0080212 polycystic kidney disease 4 ISO RGD:1344340 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease 4 PMID:25741868|PMID:28492532|PMID:32155570|PMID:34193977|PMID:37466057|PMID:38254993|PMID:41564438 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 20260519 ClinVar ClinVar Annotator: match by term: B-K MOLE SYNDROME PMID:28492532 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 ISO RGD:1344340 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 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:11054 urinary bladder cancer ISO RGD:1344340 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8705185 Pot1 protection of telomeres 1 gene DOID:1115 sarcoma ISO RGD:1344340 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Sarcoma PMID:25741868|PMID:27528712|PMID:28492532|PMID:29625052|PMID:32155570 8705185 Pot1 protection of telomeres 1 gene DOID:1324 lung cancer ISO RGD:1344340 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8705185 Pot1 protection of telomeres 1 gene DOID:14566 disease of cellular proliferation ISO RGD:1344340 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Neoplasm PMID:24686849|PMID:35101336 8705185 Pot1 protection of telomeres 1 gene DOID:1826 epilepsy ISO RGD:1344340 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: epilepsy PMID:24686849|PMID:25482530|PMID:25741868|PMID:27329137|PMID:28492532|PMID:29036293|PMID:29522175|PMID:29550946|PMID:29625052|PMID:32155570|PMID:33054084|PMID:41564438 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 20260519 ClinVar ClinVar Annotator: match by term: MELANOMA, MALIGNANT PMID:28492532 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:3070 high grade glioma ISO RGD:1344340 D RGD:8554872 20250408 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 | ClinVar Annotator: match by term: Pediatric high-grade 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:31685617|PMID:31937561|PMID:32033110|PMID:32155570|PMID:32191290|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32976206|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:3070 high grade glioma ISO RGD:1344340 D RGD:8554872 20250506 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 | 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:31685617|PMID:31937561|PMID:32033110|PMID:32155570|PMID:32191290|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32976206|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:39315505|PMID:9536098 8705185 Pot1 protection of telomeres 1 gene DOID:3070 high grade glioma ISO RGD:1344340 D RGD:8554872 20250701 ClinVar 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: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:32976206|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:39315505|PMID:40015989|PMID:9536098 8705185 Pot1 protection of telomeres 1 gene DOID:3070 high grade glioma ISO RGD:1344340 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 9 PMID:17576681|PMID:24686846|PMID:24686849|PMID:25482530|PMID:25741868|PMID:25877891|PMID:26467025|PMID:27528712|PMID:28492532|PMID:29523635|PMID:29693246|PMID:30414346|PMID:30523342|PMID:32155570|PMID:32325837|PMID:32907878|PMID:33216348|PMID:34193977|PMID:34769003|PMID:35456397|PMID:36539277|PMID:37466057|PMID:38254993|PMID:41564438|PMID:9536098 8705185 Pot1 protection of telomeres 1 gene DOID:3275 thymoma ISO RGD:1344340 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma PMID:25741868|PMID:26467025|PMID:28492532 8705185 Pot1 protection of telomeres 1 gene DOID:3459 breast carcinoma ISO RGD:1344340 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Breast carcinoma PMID:28492532 8705185 Pot1 protection of telomeres 1 gene DOID:3512 neurofibrosarcoma ISO RGD:1344340 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Neurofibrosarcoma PMID:25741868|PMID:28492532|PMID:28853721|PMID:32720348|PMID:33050356 8705185 Pot1 protection of telomeres 1 gene DOID:3770 pulmonary fibrosis ISO RGD:1344340 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis PMID:25741868 8705185 Pot1 protection of telomeres 1 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1344340 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma 8705185 Pot1 protection of telomeres 1 gene DOID:3963 thyroid gland carcinoma ISO RGD:1344340 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid gland carcinoma PMID:25741868|PMID:28492532|PMID:28853721|PMID:32720348|PMID:33050356 8705185 Pot1 protection of telomeres 1 gene DOID:4074 pancreatic adenocarcinoma ISO RGD:1344340 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma PMID:28492532 8705185 Pot1 protection of telomeres 1 gene DOID:4362 cervical cancer ISO RGD:1344340 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer PMID:25741868|PMID:26467025|PMID:28492532 8705185 Pot1 protection of telomeres 1 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1344340 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 8705185 Pot1 protection of telomeres 1 gene DOID:4961 bone marrow disease ISO RGD:1344340 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Bone marrow hypocellularity PMID:25741868|PMID:28492532|PMID:30523342 8705185 Pot1 protection of telomeres 1 gene DOID:5082 liver cirrhosis ISO RGD:1344340 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cirrhosis PMID:25741868 8705185 Pot1 protection of telomeres 1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1344340 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma PMID:25741868|PMID:26467025|PMID:28492532 8705185 Pot1 protection of telomeres 1 gene DOID:6171 uterine carcinosarcoma ISO RGD:1344340 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma PMID:25741868|PMID:26467025|PMID:28492532 8705185 Pot1 protection of telomeres 1 gene DOID:6354 chronic lymphocytic leukemia/small lymphocytic lymphoma ISO RGD:1344340 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma 8705185 Pot1 protection of telomeres 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1344340 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:25741868 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: Familial melanoma | 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 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:6846 familial melanoma ISO RGD:1344340 D RGD:8554872 20250408 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, 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:32976206|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:6846 familial melanoma ISO RGD:1344340 D RGD:8554872 20250506 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, 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: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:32976206|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:39315505|PMID:9536098 8705185 Pot1 protection of telomeres 1 gene DOID:6846 familial melanoma ISO RGD:1344340 D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous 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 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 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:32976206|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:39315505|PMID:40015989|PMID:9536098 8705185 Pot1 protection of telomeres 1 gene DOID:6846 familial melanoma ISO RGD:1344340 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cutaneous malignant melanoma 9 | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 9 PMID:17576681|PMID:24686846|PMID:24686849|PMID:25482530|PMID:25741868|PMID:25877891|PMID:26467025|PMID:27528712|PMID:28492532|PMID:29523635|PMID:29693246|PMID:30414346|PMID:30523342|PMID:32155570|PMID:32325837|PMID:32907878|PMID:33216348|PMID:34193977|PMID:34769003|PMID:35456397|PMID:36539277|PMID:37466057|PMID:38254993|PMID:41564438|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 20260519 ClinVar ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY PMID:28492532 8705185 Pot1 protection of telomeres 1 gene DOID:9000123 Deglutition Disorders ISO RGD:1344340 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Dysphagia PMID:24686849|PMID:25252913|PMID:25741868|PMID:28492532|PMID:29625052|PMID:32155570|PMID:36113475|PMID:41564438 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 20260616 ClinVar ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 3 PMID:17576681|PMID:24686849|PMID:25482530|PMID:25741868|PMID:26467025|PMID:27329137|PMID:28492532|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29550946|PMID:29625052|PMID:32155570|PMID:33054084|PMID:34193977|PMID:41564438|PMID:9536098 8705185 Pot1 protection of telomeres 1 gene DOID:9001272 Hoyeraal-Hreidarsson Syndrome ISO RGD:1344340 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cerebellar hypoplasia with pancytopenia PMID:24686849|PMID:25252913|PMID:25741868|PMID:28492532|PMID:29625052|PMID:32155570|PMID:36113475|PMID:41564438 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 20260602 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8 PMID:17576681|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29523635|PMID:34193977|PMID:41564438|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-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: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:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344340 D RGD:8554872 20250506 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: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:32976206|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:39315505|PMID:9536098 8705185 Pot1 protection of telomeres 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344340 D RGD:8554872 20250701 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:31685617|PMID:31937561|PMID:32033110|PMID:32155570|PMID:32191290|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32976206|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:39315505|PMID:40015989|PMID:9536098 8705185 Pot1 protection of telomeres 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344340 D RGD:8554872 20260616 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:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25252913|PMID:25482530|PMID:25741868|PMID:25877891|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:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29550946|PMID:29625052|PMID:29693246|PMID:30414346|PMID:30523342|PMID:30556179|PMID:31685617|PMID:31937561|PMID:32033110|PMID:32155570|PMID:32191290|PMID:32325837|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33054084|PMID:33119245|PMID:33122293|PMID:33216348|PMID:33525650|PMID:33782098|PMID:34193977|PMID:34769003|PMID:35456397|PMID:35727838|PMID:36113475|PMID:36387164|PMID:36539277|PMID:36876055|PMID:37140166|PMID:37466057|PMID:38254993|PMID:38688277|PMID:38724174|PMID:38839987|PMID:39315505|PMID:40015989|PMID:41136327|PMID:41564438|PMID:9536098 8705185 Pot1 protection of telomeres 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1344340 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:28492532 8705185 Pot1 protection of telomeres 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1344340 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:25741868|PMID:26467025|PMID:28492532 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 8705185 Pot1 protection of telomeres 1 gene DOID:9655 oral mucosa leukoplakia ISO RGD:1344340 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Oral mucosa leukoplakia PMID:25741868|PMID:28492532|PMID:30523342 8705224 Alk ALK receptor tyrosine kinase gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1353820 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 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: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:0090070 hypogonadotropic hypogonadism ISO RGD:1553242 D RGD:9068941 20260319 MouseDO 8705224 Alk ALK receptor tyrosine kinase gene DOID:10534 stomach cancer ISO RGD:1353820 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8705224 Alk ALK receptor tyrosine kinase gene DOID:11054 urinary bladder cancer ISO RGD:1353820 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder PMID:25741868|PMID:28492532 8705224 Alk ALK receptor tyrosine kinase gene DOID:11830 myopia ISO RGD:1353820 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Myopia 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:14566 disease of cellular proliferation ISO RGD:1353820 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Neoplasm PMID:21838707|PMID:22034911|PMID:22585002|PMID:25517749|PMID:25741868|PMID:26554404|PMID:26775591|PMID:27986745|PMID:28183697|PMID:28492532|PMID:30867766|PMID:31961053|PMID:33627640|PMID:34646012|PMID:35101336 8705224 Alk ALK receptor tyrosine kinase gene DOID:1909 melanoma ISO RGD:1353820 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8705224 Alk ALK receptor tyrosine kinase gene DOID:2030 anxiety disorder ISO RGD:1353820 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Anxiety PMID:28492532 8705224 Alk ALK receptor tyrosine kinase gene DOID:2394 ovarian cancer ISO RGD:1353820 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:18923524|PMID:23104988|PMID:25741868|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:3275 thymoma ISO RGD:1353820 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8705224 Alk ALK receptor tyrosine kinase gene DOID:3459 breast carcinoma ISO RGD:1353820 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Breast carcinoma PMID:25741868|PMID:28492532 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 20260519 ClinVar ClinVar Annotator: match by term: Squamous Cell Lung Carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of lung | ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:24033266|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:4362 cervical cancer ISO RGD:1353820 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 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:4947 cholangiocarcinoma ISO RGD:1353820 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 8705224 Alk ALK receptor tyrosine kinase gene DOID:5041 esophageal cancer ISO RGD:1353820 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8705224 Alk ALK receptor tyrosine kinase gene DOID:5193 nodular ganglioneuroblastoma ISO RGD:1353820 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nodular ganglioneuroblastoma PMID:18923523|PMID:18923524|PMID:21632861|PMID:23334666|PMID:25517749|PMID:27993330|PMID:30523111|PMID:33056981|PMID:34250410 8705224 Alk ALK receptor tyrosine kinase gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1353820 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8705224 Alk ALK receptor tyrosine kinase gene DOID:6354 chronic lymphocytic leukemia/small lymphocytic lymphoma ISO RGD:1353820 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma 8705224 Alk ALK receptor tyrosine kinase gene DOID:769 neuroblastoma ISO RGD:1353820 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:18923523|PMID:18923524|PMID:21632861|PMID:23334666|PMID:25517749|PMID:27993330|PMID:29084134|PMID:30523111|PMID:33056981|PMID:34250410|PMID:40036726 8705224 Alk ALK receptor tyrosine kinase gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1353820 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: RYR2-related condition 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:9001733 Tinnitus ISO RGD:1353820 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Tinnitus PMID:25741868|PMID:28492532 8705224 Alk ALK receptor tyrosine kinase gene DOID:9004794 Plasma Cell Granuloma 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 20260519 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:16199547|PMID:16880530|PMID:17576681|PMID:18724359|PMID:18923523|PMID:18923524|PMID:18923525|PMID:22086496|PMID:23104988|PMID:23202128|PMID:23334666|PMID:24033266|PMID:24129244|PMID:24728327|PMID:25054154|PMID:25344691|PMID:25517749|PMID:25714698|PMID:25741868|PMID:25801821|PMID:25874976|PMID:25979929|PMID:26032424|PMID:26374070|PMID:26580448|PMID:26669280|PMID:26696773|PMID:27149842|PMID:27153395|PMID:27179218|PMID:27285993|PMID:27930734|PMID:28177947|PMID:28185914|PMID:28202063|PMID:28492532|PMID:28756644|PMID:28873162|PMID:28975465|PMID:29625052|PMID:29641532|PMID:29654263|PMID:29684080|PMID:30006516|PMID:30410351|PMID:30716324|PMID:30982079|PMID:31340200|PMID:32984025|PMID:32984537|PMID:33486679|PMID:33606809|PMID:33674381|PMID:34646012|PMID:35101336|PMID:35534704|PMID:35980532|PMID:35982322|PMID:36451132|PMID:37522200|PMID:38662984|PMID:38874686|PMID:39315505|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 20260519 ClinVar ClinVar Annotator: match by term: Familial isolated pituitary adenoma PMID:25741868|PMID:28492532|PMID:32984025 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 20260602 ClinVar ClinVar Annotator: match by term: ALK-related condition | ClinVar Annotator: match by term: NEUROBLASTOMA, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3 | ClinVar Annotator: match by term: neuroblastoma, susceptibility to, 3 PMID:16199547|PMID:16880530|PMID:17576681|PMID:18724359|PMID:18923523|PMID:18923524|PMID:18923525|PMID:18990089|PMID:19763152|PMID:20307669|PMID:2086496|PMID:21030459|PMID:21242967|PMID:21632861|PMID:21637378|PMID:21804922|PMID:21838707|PMID:21972109|PMID:22034911|PMID:22086496|PMID:22406018|PMID:22810114|PMID:23104988|PMID:23202128|PMID:23334666|PMID:24033266|PMID:24129244|PMID:24205241|PMID:24675991|PMID:24728327|PMID:25054154|PMID:25344691|PMID:25435121|PMID:2551774|PMID:25517749|PMID:25640679|PMID:25714698|PMID:25741868|PMID:25801821|PMID:25874976|PMID:25979929|PMID:26032424|PMID:26374070|PMID:26554404|PMID:26580448|PMID:26669280|PMID:26689913|PMID:26696773|PMID:27132509|PMID:27149842|PMID:27153395|PMID:27179218|PMID:27285993|PMID:27930734|PMID:27993330|PMID:28177947|PMID:28185914|PMID:28202063|PMID:28492532|PMID:28756644|PMID:28873162|PMID:28975465|PMID:29374774|PMID:29533785|PMID:29625052|PMID:29641532|PMID:29654263|PMID:29684080|PMID:29907598|PMID:30410351|PMID:30523111|PMID:30716324|PMID:30982079|PMID:30989433|PMID:31263571|PMID:31340200|PMID:31452835|PMID:32371905|PMID:32830346|PMID:32984025|PMID:32984537|PMID:32989326|PMID:33056981|PMID:33372952|PMID:33486679|PMID:33606809|PMID:33674381|PMID:33898318|PMID:34250410|PMID:34646012|PMID:35101336|PMID:35534704|PMID:35957908|PMID:35980532|PMID:35982322|PMID:36451132|PMID:37522200|PMID:38662984|PMID:38874686|PMID:39315505|PMID:9536098 8705224 Alk ALK receptor tyrosine kinase gene DOID:9009095 Neuroblastoma 3 susceptibility ISO RGD:1353820 D RGD:7240710 20190502 OMIM 8705224 Alk ALK receptor tyrosine kinase gene DOID:9834 hyperopia ISO RGD:1353820 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hypermetropia PMID:25741868|PMID:28492532 8705257 Nfrkb nuclear factor related to kappaB binding protein gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1321531 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8705257 Nfrkb nuclear factor related to kappaB binding protein gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1321531 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8705257 Nfrkb nuclear factor related to kappaB binding protein gene DOID:10534 stomach cancer ISO RGD:1321531 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8705257 Nfrkb nuclear factor related to kappaB binding protein gene DOID:11054 urinary bladder cancer ISO RGD:1321531 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8705257 Nfrkb nuclear factor related to kappaB binding protein gene DOID:1324 lung cancer ISO RGD:1321531 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8705257 Nfrkb nuclear factor related to kappaB binding protein gene DOID:1909 melanoma ISO RGD:1321531 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8705257 Nfrkb nuclear factor related to kappaB binding protein gene DOID:234 colon adenocarcinoma ISO RGD:1321531 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8705257 Nfrkb nuclear factor related to kappaB binding protein gene DOID:3275 thymoma ISO RGD:1321531 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8705257 Nfrkb nuclear factor related to kappaB binding protein gene DOID:4362 cervical cancer ISO RGD:1321531 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8705257 Nfrkb nuclear factor related to kappaB binding protein gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1321531 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 8705257 Nfrkb nuclear factor related to kappaB binding protein gene DOID:5041 esophageal cancer ISO RGD:1321531 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8705257 Nfrkb nuclear factor related to kappaB binding protein gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1321531 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8705257 Nfrkb nuclear factor related to kappaB binding protein gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1321531 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8705257 Nfrkb nuclear factor related to kappaB binding protein gene DOID:9008952 Breast Cancer, Familial ISO RGD:1321531 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8705257 Nfrkb nuclear factor related to kappaB binding protein gene DOID:9119 acute myeloid leukemia ISO RGD:1321531 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8705295 Rnf216 ring finger protein 216 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1604006 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8705295 Rnf216 ring finger protein 216 gene DOID:0081284 rosette-forming glioneuronal tumor ISO RGD:1604006 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Rosette-forming glioneuronal tumor PMID:26822237 8705295 Rnf216 ring finger protein 216 gene DOID:0090070 hypogonadotropic hypogonadism ISO RGD:1604006 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 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 20260602 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia and hypogonadotropic hypogonadism | ClinVar Annotator: match by term: Cerebellar ataxia-hypogonadism syndrome | ClinVar Annotator: match by term: GORDON HOLMES SYNDROME | ClinVar Annotator: match by term: Gordon Holmes syndrome | ClinVar Annotator: match by term: RNF216-related condition PMID:23656588|PMID:25741868|PMID:28492532 8705295 Rnf216 ring finger protein 216 gene DOID:10534 stomach cancer ISO RGD:1604006 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8705295 Rnf216 ring finger protein 216 gene DOID:1115 sarcoma ISO RGD:1604006 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8705295 Rnf216 ring finger protein 216 gene DOID:1909 melanoma ISO RGD:1604006 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8705295 Rnf216 ring finger protein 216 gene DOID:1921 Klinefelter syndrome ISO RGD:1604006 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 8705295 Rnf216 ring finger protein 216 gene DOID:3070 high grade glioma ISO RGD:1604006 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Glioma susceptibility 1 8705295 Rnf216 ring finger protein 216 gene DOID:3275 thymoma ISO RGD:1604006 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8705295 Rnf216 ring finger protein 216 gene DOID:5041 esophageal cancer ISO RGD:1604006 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8705295 Rnf216 ring finger protein 216 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1604006 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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 8705295 Rnf216 ring finger protein 216 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1604006 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8705295 Rnf216 ring finger protein 216 gene DOID:9119 acute myeloid leukemia ISO RGD:1604006 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8705314 Samm50 SAMM50 sorting and assembly machinery component gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1604035 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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:10534 stomach cancer ISO RGD:1604035 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8705314 Samm50 SAMM50 sorting and assembly machinery component gene DOID:11054 urinary bladder cancer ISO RGD:1604035 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8705314 Samm50 SAMM50 sorting and assembly machinery component gene DOID:1115 sarcoma ISO RGD:1604035 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8705314 Samm50 SAMM50 sorting and assembly machinery component gene DOID:1324 lung cancer ISO RGD:1604035 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8705314 Samm50 SAMM50 sorting and assembly machinery component gene DOID:234 colon adenocarcinoma ISO RGD:1604035 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8705314 Samm50 SAMM50 sorting and assembly machinery component gene DOID:4074 pancreatic adenocarcinoma ISO RGD:1604035 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma 8705314 Samm50 SAMM50 sorting and assembly machinery component gene DOID:4362 cervical cancer ISO RGD:1604035 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8705314 Samm50 SAMM50 sorting and assembly machinery component gene DOID:5041 esophageal cancer ISO RGD:1604035 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8705314 Samm50 SAMM50 sorting and assembly machinery component gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1604035 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8705314 Samm50 SAMM50 sorting and assembly machinery component gene DOID:6171 uterine carcinosarcoma ISO RGD:1604035 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8705314 Samm50 SAMM50 sorting and assembly machinery component gene DOID:9008952 Breast Cancer, Familial ISO RGD:1604035 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8705338 Ctc1 CST telomere replication complex component 1 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1604790 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8705338 Ctc1 CST telomere replication complex component 1 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1604790 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma PMID:25741868|PMID:28492532 8705338 Ctc1 CST telomere replication complex component 1 gene DOID:0060282 persistent hyperplastic primary vitreous ISO RGD:1604790 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Persistent hyperplastic primary vitreous PMID:22899577|PMID:25741868|PMID:25843205|PMID:28492532|PMID:29146883 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:1094 attention deficit hyperactivity disorder ISO RGD:1604790 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Attention deficit hyperactivity disorder PMID:22267198|PMID:22387016|PMID:25741868|PMID:28492532 8705338 Ctc1 CST telomere replication complex component 1 gene DOID:11054 urinary bladder cancer ISO RGD:1604790 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8705338 Ctc1 CST telomere replication complex component 1 gene DOID:1115 sarcoma ISO RGD:1604790 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma PMID:25741868|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:1826 epilepsy ISO RGD:1604790 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Seizure PMID:22267198|PMID:22387016|PMID:25741868|PMID:28492532 8705338 Ctc1 CST telomere replication complex component 1 gene DOID:234 colon adenocarcinoma ISO RGD:1604790 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 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 20260602 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita | ClinVar Annotator: match by term: dyskeratosis congenita PMID:16199547|PMID:17576681|PMID:22267198|PMID:22387016|PMID:22532422|PMID:22899577|PMID:23869908|PMID:24033266|PMID:2411576|PMID:24115768|PMID:25182133|PMID:25197929|PMID:25741868|PMID:25843205|PMID:26344056|PMID:28135719|PMID:28492532|PMID:28864049|PMID:29111009|PMID:29146883|PMID:29228254|PMID:29481669|PMID:30393977|PMID:30523342|PMID:3057194|PMID:30891747|PMID:31785789|PMID:33510405|PMID:33528536|PMID:34706368|PMID:35982159|PMID:37216690|PMID:9536098 8705338 Ctc1 CST telomere replication complex component 1 gene DOID:3275 thymoma ISO RGD:1604790 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma PMID:25741868|PMID:28492532 8705338 Ctc1 CST telomere replication complex component 1 gene DOID:5041 esophageal cancer ISO RGD:1604790 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8705338 Ctc1 CST telomere replication complex component 1 gene DOID:5679 retinal disease ISO RGD:1604790 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Retinal disorders PMID:22267198|PMID:22387016|PMID:23869908|PMID:25741868|PMID:28492532 8705338 Ctc1 CST telomere replication complex component 1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1604790 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8705338 Ctc1 CST telomere replication complex component 1 gene DOID:630 genetic disease ISO RGD:1604790 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:22267198|PMID:22387016|PMID:22532422|PMID:22899577|PMID:23869908|PMID:25741868|PMID:28492532|PMID:30891747|PMID:34706368|PMID:37216690 8705338 Ctc1 CST telomere replication complex component 1 gene DOID:6364 migraine ISO RGD:1604790 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Migraine PMID:22267198|PMID:22387016|PMID:25741868|PMID:28492532 8705338 Ctc1 CST telomere replication complex component 1 gene DOID:674 cleft palate ISO RGD:1604790 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cleft palate PMID:22899577|PMID:25741868|PMID:25843205|PMID:28492532|PMID:29146883 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:9001276 Failure to Thrive ISO RGD:1604790 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:22899577|PMID:25741868|PMID:25843205|PMID:28492532|PMID:29146883 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: Cerebroretinal microangiopathy with calcifications and cysts | 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 20260602 ClinVar ClinVar Annotator: match by term: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1 | ClinVar Annotator: match by term: CTC1-related condition | ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 PMID:16199547|PMID:17576681|PMID:22267198|PMID:22387016|PMID:22532422|PMID:22899577|PMID:23869908|PMID:24033266|PMID:2411576|PMID:24115768|PMID:25182133|PMID:25741868|PMID:25843205|PMID:26344056|PMID:28492532|PMID:28864049|PMID:29111009|PMID:29146883|PMID:29228254|PMID:29481669|PMID:3057194|PMID:30891747|PMID:31069529|PMID:33510405|PMID:33528536|PMID:34573280|PMID:34706368|PMID:35982159|PMID:37216690|PMID:9536098 8705338 Ctc1 CST telomere replication complex component 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1604790 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8705338 Ctc1 CST telomere replication complex component 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1604790 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 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 8705375 Vmac vimentin type intermediate filament associated coiled-coil protein gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1606370 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8705375 Vmac vimentin type intermediate filament associated coiled-coil protein gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1606370 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 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 ISO RGD:735591 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease PMID:17576681|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:0050939 uterine corpus endometrial carcinoma ISO RGD:735591 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8705394 Il10 interleukin 10 gene DOID:0051061 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:0051061 stroke no_association ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:16323614|REF_RGD_ID:1598623 8705394 Il10 interleukin 10 gene DOID:0051061 stroke severity ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:15894335|REF_RGD_ID:1598629 8705394 Il10 interleukin 10 gene DOID:0051061 stroke treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:23786953|REF_RGD_ID:7365015 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:0080547 metabolic dysfunction-associated steatohepatitis treatment ISO RGD:2886 D RGD:9068941 20250410 RGD PMID:31861497|REF_RGD_ID:598130071 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:0081267 graft-versus-host disease ISO RGD:735591 D RGD:7240710 20260624 OMIM 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: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: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:9068941 20250724 CTD CTD Direct Evidence: marker/mechanism PMID:16360218 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:13891 bird fancier's lung ISO RGD:10785 D RGD:9068941 20260207 RGD protein:increased expression:respiratory system fluid/secretion PMID:31830693|REF_RGD_ID:632518366 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:1443 cerebral degeneration ISO RGD:2886 D RGD:9068941 20260514 RGD protein:increased expression:brain PMID:19287312|REF_RGD_ID:713441781 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: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: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 20260624 OMIM 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:5746 ovarian serous cystadenocarcinoma ISO RGD:735591 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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 20260624 OMIM 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: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:9005228 Musculoskeletal Pain ISO RGD:2886 D RGD:9068941 20260625 RGD PMID:28628078|REF_RGD_ID:736686880 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 20260702 RGD PMID:25078297|PMID:29084866|REF_RGD_ID:11049468|REF_RGD_ID:736705808 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: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:9008952 Breast Cancer, Familial ISO RGD:735591 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 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: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:1324 lung cancer ISO RGD:1602679 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8705403 Rpap2 RNA polymerase II associated protein 2 gene DOID:5041 esophageal cancer ISO RGD:1602679 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8705403 Rpap2 RNA polymerase II associated protein 2 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1602679 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8705437 Cdca2 cell division cycle associated 2 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1322226 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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:10534 stomach cancer ISO RGD:1322226 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8705437 Cdca2 cell division cycle associated 2 gene DOID:1115 sarcoma ISO RGD:1322226 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8705437 Cdca2 cell division cycle associated 2 gene DOID:1324 lung cancer ISO RGD:1322226 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8705437 Cdca2 cell division cycle associated 2 gene DOID:1909 melanoma ISO RGD:1322226 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8705437 Cdca2 cell division cycle associated 2 gene DOID:234 colon adenocarcinoma ISO RGD:1322226 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 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:4362 cervical cancer ISO RGD:1322226 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8705437 Cdca2 cell division cycle associated 2 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1322226 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 8705437 Cdca2 cell division cycle associated 2 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1322226 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8705437 Cdca2 cell division cycle associated 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1322226 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8705437 Cdca2 cell division cycle associated 2 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1322226 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8705437 Cdca2 cell division cycle associated 2 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1322226 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast 8705437 Cdca2 cell division cycle associated 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1322226 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8705467 Alkbh3 alkB homolog 3, alpha-ketoglutarate dependent dioxygenase gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1606677 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8705467 Alkbh3 alkB homolog 3, alpha-ketoglutarate dependent dioxygenase gene DOID:10534 stomach cancer ISO RGD:1606677 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8705467 Alkbh3 alkB homolog 3, alpha-ketoglutarate dependent dioxygenase gene DOID:1115 sarcoma ISO RGD:1606677 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8705467 Alkbh3 alkB homolog 3, alpha-ketoglutarate dependent dioxygenase gene DOID:1909 melanoma ISO RGD:1606677 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8705467 Alkbh3 alkB homolog 3, alpha-ketoglutarate dependent dioxygenase gene DOID:4362 cervical cancer ISO RGD:1606677 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8705467 Alkbh3 alkB homolog 3, alpha-ketoglutarate dependent dioxygenase gene DOID:6039 uveal melanoma ISO RGD:1606677 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uveal melanoma 8705467 Alkbh3 alkB homolog 3, alpha-ketoglutarate dependent dioxygenase gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1606677 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8705467 Alkbh3 alkB homolog 3, alpha-ketoglutarate dependent dioxygenase gene DOID:9008952 Breast Cancer, Familial ISO RGD:1606677 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8705499 Znf180 zinc finger protein 180 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1348239 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8705499 Znf180 zinc finger protein 180 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1348239 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8705499 Znf180 zinc finger protein 180 gene DOID:684 hepatocellular carcinoma ISO RGD:1348239 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8705508 Pcdh10 protocadherin 10 gene DOID:10534 stomach cancer ISO RGD:1348202 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8705508 Pcdh10 protocadherin 10 gene DOID:12849 autistic disorder ISO RGD:1348202 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18621663 8705508 Pcdh10 protocadherin 10 gene DOID:1324 lung cancer ISO RGD:1348202 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8705508 Pcdh10 protocadherin 10 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1348202 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma 8705508 Pcdh10 protocadherin 10 gene DOID:6171 uterine carcinosarcoma ISO RGD:1348202 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8705508 Pcdh10 protocadherin 10 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1348202 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8705529 Tmem139 transmembrane protein 139 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1602298 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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: Ciliary dyskinesia, primary, 6 | ClinVar Annotator: match by term: NME8-related condition | 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:10534 stomach cancer ISO RGD:1344206 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8705540 Nme8 NME/NM23 family member 8 gene DOID:1115 sarcoma ISO RGD:1344206 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8705540 Nme8 NME/NM23 family member 8 gene DOID:1909 melanoma ISO RGD:1344206 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8705540 Nme8 NME/NM23 family member 8 gene DOID:5041 esophageal cancer ISO RGD:1344206 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8705540 Nme8 NME/NM23 family member 8 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1344206 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:24033266|PMID:25741868|PMID:28492532 8705540 Nme8 NME/NM23 family member 8 gene DOID:9119 acute myeloid leukemia ISO RGD:1344206 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8705540 Nme8 NME/NM23 family member 8 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1344206 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:16199547|PMID:17360648|PMID:20301301|PMID:24033266|PMID:25741868|PMID:28492532|PMID:35804324 8705561 Jph3 junctophilin 3 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1318170 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 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:1115 sarcoma ISO RGD:1318170 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8705561 Jph3 junctophilin 3 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1318170 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8705561 Jph3 junctophilin 3 gene DOID:630 genetic disease ISO RGD:1318170 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8705561 Jph3 junctophilin 3 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1318170 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 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 8705561 Jph3 junctophilin 3 gene DOID:9119 acute myeloid leukemia ISO RGD:1318170 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8705570 Armcx4 armadillo repeat containing X-linked 4 gene DOID:1115 sarcoma ISO RGD:1347581 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8705570 Armcx4 armadillo repeat containing X-linked 4 gene DOID:1324 lung cancer ISO RGD:1347581 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8705570 Armcx4 armadillo repeat containing X-linked 4 gene DOID:3275 thymoma ISO RGD:1347581 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8705570 Armcx4 armadillo repeat containing X-linked 4 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1347581 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8705570 Armcx4 armadillo repeat containing X-linked 4 gene DOID:6171 uterine carcinosarcoma ISO RGD:1347581 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8705570 Armcx4 armadillo repeat containing X-linked 4 gene DOID:6354 chronic lymphocytic leukemia/small lymphocytic lymphoma ISO RGD:1347581 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma 8705570 Armcx4 armadillo repeat containing X-linked 4 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1347581 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8705570 Armcx4 armadillo repeat containing X-linked 4 gene DOID:9119 acute myeloid leukemia ISO RGD:1347581 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8705583 Caskin2 CASK interacting protein 2 gene DOID:11054 urinary bladder cancer ISO RGD:1320238 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8705583 Caskin2 CASK interacting protein 2 gene DOID:1324 lung cancer ISO RGD:1320238 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8705583 Caskin2 CASK interacting protein 2 gene DOID:1909 melanoma ISO RGD:1320238 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8705583 Caskin2 CASK interacting protein 2 gene DOID:4362 cervical cancer ISO RGD:1320238 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8705583 Caskin2 CASK interacting protein 2 gene DOID:5041 esophageal cancer ISO RGD:1320238 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8705583 Caskin2 CASK interacting protein 2 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1320238 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8705583 Caskin2 CASK interacting protein 2 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1320238 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8705583 Caskin2 CASK interacting protein 2 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1320238 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8705583 Caskin2 CASK interacting protein 2 gene DOID:9256 colorectal cancer ISO RGD:1320238 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colorectal cancer 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:0050939 uterine corpus endometrial carcinoma ISO RGD:1322626 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8705649 Trappc10 trafficking protein particle complex subunit 10 gene DOID:0060058 lymphoma ISO RGD:1322626 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lymphoma 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:10534 stomach cancer ISO RGD:1322626 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8705649 Trappc10 trafficking protein particle complex subunit 10 gene DOID:11054 urinary bladder cancer ISO RGD:1322626 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 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:1909 melanoma ISO RGD:1322626 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 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:4362 cervical cancer ISO RGD:1322626 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8705649 Trappc10 trafficking protein particle complex subunit 10 gene DOID:5041 esophageal cancer ISO RGD:1322626 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8705649 Trappc10 trafficking protein particle complex subunit 10 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1322626 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 8705649 Trappc10 trafficking protein particle complex subunit 10 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1322626 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8705649 Trappc10 trafficking protein particle complex subunit 10 gene DOID:6039 uveal melanoma ISO RGD:1322626 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uveal melanoma 8705649 Trappc10 trafficking protein particle complex subunit 10 gene DOID:6171 uterine carcinosarcoma ISO RGD:1322626 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8705649 Trappc10 trafficking protein particle complex subunit 10 gene DOID:684 hepatocellular carcinoma ISO RGD:1322626 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 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:9008952 Breast Cancer, Familial ISO RGD:1322626 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial 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 20260602 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SHORT STATURE, AND SPEECH DELAY | ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, short stature, and speech delay PMID:25741868 8705676 Slc71a1 solute carrier family 71 member 1 gene DOID:1115 sarcoma ISO RGD:1313218 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8705676 Slc71a1 solute carrier family 71 member 1 gene DOID:1324 lung cancer ISO RGD:1313218 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8705676 Slc71a1 solute carrier family 71 member 1 gene DOID:1909 melanoma ISO RGD:1313218 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8705676 Slc71a1 solute carrier family 71 member 1 gene DOID:234 colon adenocarcinoma ISO RGD:1313218 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8705676 Slc71a1 solute carrier family 71 member 1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1313218 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8705676 Slc71a1 solute carrier family 71 member 1 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1313218 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8705676 Slc71a1 solute carrier family 71 member 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1313218 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8705676 Slc71a1 solute carrier family 71 member 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1313218 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8705676 Slc71a1 solute carrier family 71 member 1 gene DOID:9256 colorectal cancer ISO RGD:1313218 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colorectal cancer 8705713 Chka choline kinase alpha gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1604072 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 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:0050939 uterine corpus endometrial carcinoma ISO RGD:1604072 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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:11054 urinary bladder cancer ISO RGD:1604072 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8705713 Chka choline kinase alpha gene DOID:1909 melanoma ISO RGD:1604072 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 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:234 colon adenocarcinoma ISO RGD:1604072 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8705713 Chka choline kinase alpha gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1604072 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8705713 Chka choline kinase alpha gene DOID:684 hepatocellular carcinoma ISO RGD:1604072 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8705713 Chka choline kinase alpha gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1604072 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8705713 Chka choline kinase alpha gene DOID:9008781 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, MOVEMENT ABNORMALITIES, AND SEIZURES ISO RGD:1604072 D RGD:7240710 20250529 OMIM 8705713 Chka choline kinase alpha gene DOID:9008781 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, MOVEMENT ABNORMALITIES, AND SEIZURES ISO RGD:1604072 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, MOVEMENT ABNORMALITIES, AND SEIZURES | ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures PMID:25741868 8705713 Chka choline kinase alpha gene DOID:9008952 Breast Cancer, Familial ISO RGD:1604072 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8705741 St3gal4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1353529 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8705741 St3gal4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 gene DOID:0060058 lymphoma ISO RGD:1353529 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lymphoma 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:11054 urinary bladder cancer ISO RGD:1353529 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8705741 St3gal4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 gene DOID:1324 lung cancer ISO RGD:1353529 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8705741 St3gal4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 gene DOID:4362 cervical cancer ISO RGD:1353529 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8705741 St3gal4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 gene DOID:5041 esophageal cancer ISO RGD:1353529 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8705741 St3gal4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1353529 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8705741 St3gal4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 gene DOID:6039 uveal melanoma ISO RGD:1353529 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uveal melanoma 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:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1353529 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8705741 St3gal4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 gene DOID:9119 acute myeloid leukemia ISO RGD:1353529 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8705787 CUNH16orf96 chromosome unknown C16orf96 homolog gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:5487050 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8705787 CUNH16orf96 chromosome unknown C16orf96 homolog gene DOID:5041 esophageal cancer ISO RGD:5487050 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8705787 CUNH16orf96 chromosome unknown C16orf96 homolog gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:5487050 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8705787 CUNH16orf96 chromosome unknown C16orf96 homolog gene DOID:6171 uterine carcinosarcoma ISO RGD:5487050 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 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:0050939 uterine corpus endometrial carcinoma ISO RGD:731415 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8705816 Kcnh5 potassium voltage-gated channel subfamily H member 5 gene DOID:0051084 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:0051084 developmental and epileptic encephalopathy 112 ISO RGD:731415 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 112 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 112 | ClinVar Annotator: match by term: KCNH5-related disorder PMID:24133262|PMID:25741868|PMID:26467025|PMID:28492532|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 20260519 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8705816 Kcnh5 potassium voltage-gated channel subfamily H member 5 gene DOID:10534 stomach cancer ISO RGD:731415 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8705816 Kcnh5 potassium voltage-gated channel subfamily H member 5 gene DOID:1324 lung cancer ISO RGD:731415 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 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 20260519 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:36307226 8705816 Kcnh5 potassium voltage-gated channel subfamily H member 5 gene DOID:684 hepatocellular carcinoma ISO RGD:731415 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8705816 Kcnh5 potassium voltage-gated channel subfamily H member 5 gene DOID:9007390 Recurrent Metabolic Crises with Variable Encephalomyopathic Features and Neurologic Regression ISO RGD:731415 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression PMID:25741868 8705816 Kcnh5 potassium voltage-gated channel subfamily H member 5 gene DOID:9119 acute myeloid leukemia ISO RGD:731415 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8705831 Ccnf cyclin F gene DOID:10534 stomach cancer ISO RGD:736837 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:25741868|PMID:28492532 8705831 Ccnf cyclin F gene DOID:11054 urinary bladder cancer ISO RGD:736837 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8705831 Ccnf cyclin F gene DOID:1115 sarcoma ISO RGD:736837 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma PMID:25741868|PMID:28492532 8705831 Ccnf cyclin F gene DOID:1324 lung cancer ISO RGD:736837 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 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:1909 melanoma ISO RGD:736837 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma PMID:25741868|PMID:28492532 8705831 Ccnf cyclin F gene DOID:234 colon adenocarcinoma ISO RGD:736837 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma PMID:25741868|PMID:28492532 8705831 Ccnf cyclin F gene DOID:3275 thymoma ISO RGD:736837 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 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 | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 8705831 Ccnf cyclin F gene DOID:4362 cervical cancer ISO RGD:736837 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer PMID:25741868|PMID:28492532 8705831 Ccnf cyclin F gene DOID:5041 esophageal cancer ISO RGD:736837 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8705831 Ccnf cyclin F gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:736837 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 8705831 Ccnf cyclin F gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:736837 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8705831 Ccnf cyclin F gene DOID:6171 uterine carcinosarcoma ISO RGD:736837 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma PMID:25741868 8705831 Ccnf cyclin F gene DOID:684 hepatocellular carcinoma ISO RGD:736837 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:25741868|PMID:28492532 8705831 Ccnf cyclin F gene DOID:9005024 Hereditary Adrenocortical Carcinoma ISO RGD:736837 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary 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 20260519 ClinVar ClinVar Annotator: match by term: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 5 | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 5 PMID:25741868|PMID:27080313|PMID:28281833|PMID:31577344 8705831 Ccnf cyclin F gene DOID:9008952 Breast Cancer, Familial ISO RGD:736837 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 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:0050387 nonpapillary renal cell carcinoma ISO RGD:1312078 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8705851 Igsf9 immunoglobulin superfamily member 9 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1312078 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8705851 Igsf9 immunoglobulin superfamily member 9 gene DOID:10534 stomach cancer ISO RGD:1312078 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8705851 Igsf9 immunoglobulin superfamily member 9 gene DOID:1115 sarcoma ISO RGD:1312078 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8705851 Igsf9 immunoglobulin superfamily member 9 gene DOID:2394 ovarian cancer ISO RGD:1312078 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian cancer 8705851 Igsf9 immunoglobulin superfamily member 9 gene DOID:3275 thymoma ISO RGD:1312078 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8705851 Igsf9 immunoglobulin superfamily member 9 gene DOID:4362 cervical cancer ISO RGD:1312078 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8705851 Igsf9 immunoglobulin superfamily member 9 gene DOID:5041 esophageal cancer ISO RGD:1312078 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8705851 Igsf9 immunoglobulin superfamily member 9 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1312078 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8705851 Igsf9 immunoglobulin superfamily member 9 gene DOID:6171 uterine carcinosarcoma ISO RGD:1312078 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8705851 Igsf9 immunoglobulin superfamily member 9 gene DOID:684 hepatocellular carcinoma ISO RGD:1312078 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8705851 Igsf9 immunoglobulin superfamily member 9 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1312078 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8705851 Igsf9 immunoglobulin superfamily member 9 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1312078 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8705892 Magi1 membrane associated guanylate kinase, WW and PDZ domain containing 1 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1322871 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8705892 Magi1 membrane associated guanylate kinase, WW and PDZ domain containing 1 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1322871 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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:10534 stomach cancer ISO RGD:1322871 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8705892 Magi1 membrane associated guanylate kinase, WW and PDZ domain containing 1 gene DOID:11054 urinary bladder cancer ISO RGD:1322871 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8705892 Magi1 membrane associated guanylate kinase, WW and PDZ domain containing 1 gene DOID:1115 sarcoma ISO RGD:1322871 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8705892 Magi1 membrane associated guanylate kinase, WW and PDZ domain containing 1 gene DOID:1324 lung cancer ISO RGD:1322871 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8705892 Magi1 membrane associated guanylate kinase, WW and PDZ domain containing 1 gene DOID:1909 melanoma ISO RGD:1322871 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8705892 Magi1 membrane associated guanylate kinase, WW and PDZ domain containing 1 gene DOID:234 colon adenocarcinoma ISO RGD:1322871 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8705892 Magi1 membrane associated guanylate kinase, WW and PDZ domain containing 1 gene DOID:4074 pancreatic adenocarcinoma ISO RGD:1322871 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma 8705892 Magi1 membrane associated guanylate kinase, WW and PDZ domain containing 1 gene DOID:4362 cervical cancer ISO RGD:1322871 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 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 8705892 Magi1 membrane associated guanylate kinase, WW and PDZ domain containing 1 gene DOID:4947 cholangiocarcinoma ISO RGD:1322871 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 8705892 Magi1 membrane associated guanylate kinase, WW and PDZ domain containing 1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1322871 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 8705892 Magi1 membrane associated guanylate kinase, WW and PDZ domain containing 1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1322871 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8705892 Magi1 membrane associated guanylate kinase, WW and PDZ domain containing 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1322871 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8705892 Magi1 membrane associated guanylate kinase, WW and PDZ domain containing 1 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1322871 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8705892 Magi1 membrane associated guanylate kinase, WW and PDZ domain containing 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1322871 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8705892 Magi1 membrane associated guanylate kinase, WW and PDZ domain containing 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1322871 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8705951 Nup42 nucleoporin 42 gene DOID:10534 stomach cancer ISO RGD:1344412 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8705951 Nup42 nucleoporin 42 gene DOID:1324 lung cancer ISO RGD:1344412 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8705951 Nup42 nucleoporin 42 gene DOID:4362 cervical cancer ISO RGD:1344412 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8705951 Nup42 nucleoporin 42 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1344412 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 8705951 Nup42 nucleoporin 42 gene DOID:5041 esophageal cancer ISO RGD:1344412 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8705951 Nup42 nucleoporin 42 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1344412 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8705951 Nup42 nucleoporin 42 gene DOID:6039 uveal melanoma ISO RGD:1344412 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uveal melanoma 8705951 Nup42 nucleoporin 42 gene DOID:6171 uterine carcinosarcoma ISO RGD:1344412 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8705951 Nup42 nucleoporin 42 gene DOID:684 hepatocellular carcinoma ISO RGD:1344412 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8705951 Nup42 nucleoporin 42 gene DOID:9005024 Hereditary Adrenocortical Carcinoma ISO RGD:1344412 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary 8705951 Nup42 nucleoporin 42 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1344412 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8705962 Sec11c SEC11 homolog C, signal peptidase complex subunit gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1348413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8705962 Sec11c SEC11 homolog C, signal peptidase complex subunit gene DOID:1324 lung cancer ISO RGD:1348413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8705962 Sec11c SEC11 homolog C, signal peptidase complex subunit gene DOID:3275 thymoma ISO RGD:1348413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8705962 Sec11c SEC11 homolog C, signal peptidase complex subunit gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1348413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8705978 Pkia cAMP-dependent protein kinase inhibitor alpha gene DOID:11054 urinary bladder cancer ISO RGD:731267 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8705978 Pkia cAMP-dependent protein kinase inhibitor alpha gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:731267 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8705978 Pkia cAMP-dependent protein kinase inhibitor alpha gene DOID:6171 uterine carcinosarcoma ISO RGD:731267 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8705999 Znf74 zinc finger protein 74 gene DOID:1115 sarcoma ISO RGD:1353341 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8705999 Znf74 zinc finger protein 74 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1353341 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma 8705999 Znf74 zinc finger protein 74 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1353341 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 8705999 Znf74 zinc finger protein 74 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1353341 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8706008 Gsap gamma-secretase activating protein gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1604809 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8706008 Gsap gamma-secretase activating protein gene DOID:0060058 lymphoma ISO RGD:1604809 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lymphoma 8706008 Gsap gamma-secretase activating protein gene DOID:10534 stomach cancer ISO RGD:1604809 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8706008 Gsap gamma-secretase activating protein gene DOID:11054 urinary bladder cancer ISO RGD:1604809 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8706008 Gsap gamma-secretase activating protein gene DOID:1324 lung cancer ISO RGD:1604809 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8706008 Gsap gamma-secretase activating protein gene DOID:1909 melanoma ISO RGD:1604809 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8706008 Gsap gamma-secretase activating protein gene DOID:4362 cervical cancer ISO RGD:1604809 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8706008 Gsap gamma-secretase activating protein gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1604809 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 8706008 Gsap gamma-secretase activating protein gene DOID:4947 cholangiocarcinoma ISO RGD:1604809 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 8706008 Gsap gamma-secretase activating protein gene DOID:5041 esophageal cancer ISO RGD:1604809 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8706008 Gsap gamma-secretase activating protein gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1604809 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 8706008 Gsap gamma-secretase activating protein gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1604809 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8706008 Gsap gamma-secretase activating protein gene DOID:684 hepatocellular carcinoma ISO RGD:1604809 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8706008 Gsap gamma-secretase activating protein gene DOID:9004083 Familial Pancreatic Carcinoma ISO RGD:1604809 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial pancreatic carcinoma 8706008 Gsap gamma-secretase activating protein gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1604809 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8706008 Gsap gamma-secretase activating protein gene DOID:9008952 Breast Cancer, Familial ISO RGD:1604809 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8706008 Gsap gamma-secretase activating protein gene DOID:9119 acute myeloid leukemia ISO RGD:1604809 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8706043 Ndufa3 NADH:ubiquinone oxidoreductase subunit A3 gene DOID:3275 thymoma ISO RGD:1323447 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8706043 Ndufa3 NADH:ubiquinone oxidoreductase subunit A3 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1323447 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8706064 Nalf2 NALCN channel auxiliary factor 2 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1350785 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8706064 Nalf2 NALCN channel auxiliary factor 2 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1350785 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8706071 Cdca5 cell division cycle associated 5 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1350338 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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:10534 stomach cancer ISO RGD:1350338 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8706071 Cdca5 cell division cycle associated 5 gene DOID:1909 melanoma ISO RGD:1350338 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8706071 Cdca5 cell division cycle associated 5 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1350338 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 8706071 Cdca5 cell division cycle associated 5 gene DOID:6171 uterine carcinosarcoma ISO RGD:1350338 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 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 8706098 Ccdc18 coiled-coil domain containing 18 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1601798 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8706098 Ccdc18 coiled-coil domain containing 18 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1601798 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8706098 Ccdc18 coiled-coil domain containing 18 gene DOID:10534 stomach cancer ISO RGD:1601798 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8706098 Ccdc18 coiled-coil domain containing 18 gene DOID:11054 urinary bladder cancer ISO RGD:1601798 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8706098 Ccdc18 coiled-coil domain containing 18 gene DOID:1115 sarcoma ISO RGD:1601798 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8706098 Ccdc18 coiled-coil domain containing 18 gene DOID:1324 lung cancer ISO RGD:1601798 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8706098 Ccdc18 coiled-coil domain containing 18 gene DOID:234 colon adenocarcinoma ISO RGD:1601798 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8706098 Ccdc18 coiled-coil domain containing 18 gene DOID:2394 ovarian cancer ISO RGD:1601798 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian cancer 8706098 Ccdc18 coiled-coil domain containing 18 gene DOID:3070 high grade glioma ISO RGD:1601798 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Glioma susceptibility 1 8706098 Ccdc18 coiled-coil domain containing 18 gene DOID:3275 thymoma ISO RGD:1601798 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8706098 Ccdc18 coiled-coil domain containing 18 gene DOID:4362 cervical cancer ISO RGD:1601798 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8706098 Ccdc18 coiled-coil domain containing 18 gene DOID:4947 cholangiocarcinoma ISO RGD:1601798 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 8706098 Ccdc18 coiled-coil domain containing 18 gene DOID:5041 esophageal cancer ISO RGD:1601798 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8706098 Ccdc18 coiled-coil domain containing 18 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1601798 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 8706098 Ccdc18 coiled-coil domain containing 18 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1601798 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8706098 Ccdc18 coiled-coil domain containing 18 gene DOID:6039 uveal melanoma ISO RGD:1601798 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uveal melanoma 8706098 Ccdc18 coiled-coil domain containing 18 gene DOID:6171 uterine carcinosarcoma ISO RGD:1601798 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8706098 Ccdc18 coiled-coil domain containing 18 gene DOID:684 hepatocellular carcinoma ISO RGD:1601798 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8706098 Ccdc18 coiled-coil domain containing 18 gene DOID:9004083 Familial Pancreatic Carcinoma ISO RGD:1601798 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial pancreatic carcinoma 8706098 Ccdc18 coiled-coil domain containing 18 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1601798 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8706098 Ccdc18 coiled-coil domain containing 18 gene DOID:9119 acute myeloid leukemia ISO RGD:1601798 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8706098 Ccdc18 coiled-coil domain containing 18 gene DOID:9256 colorectal cancer ISO RGD:1601798 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colorectal cancer 8706130 Abca12 ATP binding cassette subfamily A member 12 gene DOID:0060058 lymphoma ISO RGD:1312110 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lymphoma 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 20260519 ClinVar ClinVar Annotator: match by term: Congenital ichthyosis of skin | ClinVar Annotator: match by term: Lamellar ichthyosis PMID:16007253|PMID:19262603|PMID:20672373|PMID:20849526|PMID:22992804|PMID:25741868|PMID:26740202|PMID:28492532|PMID:36262015|PMID:36980989 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 20260602 ClinVar ClinVar Annotator: match by term: ABCA12-related condition | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 4A | ClinVar Annotator: match by term: ICHTHYOSIS CONGENITA IIB | ClinVar Annotator: match by term: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A | ClinVar Annotator: match by term: Ichthyosis congenita IIB PMID:12915478|PMID:16007253|PMID:16199547|PMID:16902423|PMID:19664001|PMID:20672373|PMID:21729033|PMID:22257947|PMID:22992804|PMID:23528209|PMID:25741868|PMID:27025581|PMID:28295493|PMID:28492532|PMID:29722424|PMID:29880184|PMID:29887490|PMID:30600594|PMID:30916489|PMID:31168818|PMID:32707200|PMID:32851342|PMID:34908195|PMID:36980989 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 20260602 ClinVar ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 4B | ClinVar Annotator: match by term: Harlequin fetus | ClinVar Annotator: match by term: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4B | ClinVar Annotator: match by term: Ichthyosis, congenital, autosomal recessive 4B (harlequin) | ClinVar Annotator: match by term: autosomal recessive congenital ichthyosis 4B PMID:16007253|PMID:16902423|PMID:19664001|PMID:20672373|PMID:22257947|PMID:25741868|PMID:28492532|PMID:29880184|PMID:31168818|PMID:36980989 8706130 Abca12 ATP binding cassette subfamily A member 12 gene DOID:10534 stomach cancer ISO RGD:1312110 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8706130 Abca12 ATP binding cassette subfamily A member 12 gene DOID:1570 ectropion ISO RGD:1312110 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ectropion PMID:19664001|PMID:20672373|PMID:25741868|PMID:28492532|PMID:29880184 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:1909 melanoma ISO RGD:1312110 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8706130 Abca12 ATP binding cassette subfamily A member 12 gene DOID:234 colon adenocarcinoma ISO RGD:1312110 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8706130 Abca12 ATP binding cassette subfamily A member 12 gene DOID:3275 thymoma ISO RGD:1312110 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8706130 Abca12 ATP binding cassette subfamily A member 12 gene DOID:4362 cervical cancer ISO RGD:1312110 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8706130 Abca12 ATP binding cassette subfamily A member 12 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1312110 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 8706130 Abca12 ATP binding cassette subfamily A member 12 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1312110 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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:9002395 Hypothermia ISO RGD:1312110 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hypothermia PMID:19664001|PMID:20672373|PMID:25741868|PMID:28492532|PMID:29880184 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: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:9005603 Muscle Hypotonia ISO RGD:1312110 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:25741868|PMID:28492532 8706130 Abca12 ATP binding cassette subfamily A member 12 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1312110 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 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 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8706190 Kmt2b lysine methyltransferase 2B gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1605411 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8706190 Kmt2b lysine methyltransferase 2B gene DOID:0050753 cerebellar ataxia ISO RGD:1605411 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Dysmetria 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:0050939 uterine corpus endometrial carcinoma ISO RGD:1605411 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma PMID:25741868|PMID:28492532 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 20260602 ClinVar ClinVar Annotator: match by term: DYSTONIA 28, CHILDHOOD-ONSET | ClinVar Annotator: match by term: Dystonia 28, childhood-onset | ClinVar Annotator: match by term: KMT2B-related condition | ClinVar Annotator: match by term: KMT2B-related disorder PMID:25741868|PMID:25741878|PMID:27839873|PMID:27992417|PMID:28492532|PMID:28520167|PMID:31216378|PMID:32581362|PMID:33098801|PMID:33150406|PMID:33619735|PMID:34747823 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 20250708 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 68 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 68 PMID:25741868|PMID:27839873|PMID:27992417|PMID:28492532|PMID:33150406 8706190 Kmt2b lysine methyltransferase 2B gene DOID:0080833 laryngomalacia ISO RGD:1605411 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Congenital laryngomalacia 8706190 Kmt2b lysine methyltransferase 2B gene DOID:0110764 hereditary spastic paraplegia 11 ISO RGD:1605411 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gait disturbance 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:10534 stomach cancer ISO RGD:1605411 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8706190 Kmt2b lysine methyltransferase 2B gene DOID:1059 intellectual disability ISO RGD:1605411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 8706190 Kmt2b lysine methyltransferase 2B gene DOID:10907 microcephaly ISO RGD:1605411 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 8706190 Kmt2b lysine methyltransferase 2B gene DOID:10908 hydrocephalus ISO RGD:1605411 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ventriculomegaly PMID:25741868 8706190 Kmt2b lysine methyltransferase 2B gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1605411 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Attention deficit hyperactivity disorder 8706190 Kmt2b lysine methyltransferase 2B gene DOID:10965 spastic diplegia ISO RGD:1605411 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Spastic diplegia PMID:25741868 8706190 Kmt2b lysine methyltransferase 2B gene DOID:11054 urinary bladder cancer ISO RGD:1605411 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder PMID:25741868|PMID:28492532 8706190 Kmt2b lysine methyltransferase 2B gene DOID:1115 sarcoma ISO RGD:1605411 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8706190 Kmt2b lysine methyltransferase 2B gene DOID:11830 myopia ISO RGD:1605411 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Myopia PMID:25741868 8706190 Kmt2b lysine methyltransferase 2B gene DOID:11836 clubfoot ISO RGD:1605411 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clubfoot 8706190 Kmt2b lysine methyltransferase 2B gene DOID:12849 autistic disorder ISO RGD:1605411 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior | ClinVar Annotator: match by term: autistic behavior PMID:25741868|PMID:28492532 8706190 Kmt2b lysine methyltransferase 2B gene DOID:13088 periventricular leukomalacia ISO RGD:1605411 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Periventricular leukomalacia PMID:25741868 8706190 Kmt2b lysine methyltransferase 2B gene DOID:1324 lung cancer ISO RGD:1605411 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 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:14566 disease of cellular proliferation ISO RGD:1605411 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Neoplasm PMID:35101336 8706190 Kmt2b lysine methyltransferase 2B gene DOID:1459 hypothyroidism ISO RGD:1605411 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hypothyroidism PMID:25741868 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:1826 epilepsy ISO RGD:1605411 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Seizure 8706190 Kmt2b lysine methyltransferase 2B gene DOID:1909 melanoma ISO RGD:1605411 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8706190 Kmt2b lysine methyltransferase 2B gene DOID:234 colon adenocarcinoma ISO RGD:1605411 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8706190 Kmt2b lysine methyltransferase 2B gene DOID:4362 cervical cancer ISO RGD:1605411 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8706190 Kmt2b lysine methyltransferase 2B gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1605411 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney PMID:25741868|PMID:28492532 8706190 Kmt2b lysine methyltransferase 2B gene DOID:5041 esophageal cancer ISO RGD:1605411 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus PMID:25741868|PMID:28492532 8706190 Kmt2b lysine methyltransferase 2B gene DOID:543 dystonia ISO RGD:1605411 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Dystonic disorder | ClinVar Annotator: match by term: dystonia PMID:25741868|PMID:32581362 8706190 Kmt2b lysine methyltransferase 2B gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1605411 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8706190 Kmt2b lysine methyltransferase 2B gene DOID:630 genetic disease ISO RGD:1605411 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases PMID:25405613|PMID:25741868|PMID:27839873|PMID:27992417|PMID:28492532 8706190 Kmt2b lysine methyltransferase 2B gene DOID:684 hepatocellular carcinoma ISO RGD:1605411 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8706190 Kmt2b lysine methyltransferase 2B gene DOID:8927 learning disability ISO RGD:1605411 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Specific learning disability PMID:32581362 8706190 Kmt2b lysine methyltransferase 2B gene DOID:9000831 Hypokinesia ISO RGD:1605411 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Bradykinesia PMID:25741868 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:9001276 Failure to Thrive ISO RGD:1605411 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:25741868 8706190 Kmt2b lysine methyltransferase 2B gene DOID:9001722 Dysarthria ISO RGD:1605411 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Dysarthria PMID:25741868|PMID:32581362 8706190 Kmt2b lysine methyltransferase 2B gene DOID:9002207 Renal Aminoacidurias ISO RGD:1605411 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Aminoaciduria PMID:25741868|PMID:33150406 8706190 Kmt2b lysine methyltransferase 2B gene DOID:9002589 Bone Fractures ISO RGD:1605411 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Recurrent fractures 8706190 Kmt2b lysine methyltransferase 2B gene DOID:9002775 Cognitive Dysfunction ISO RGD:1605411 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cognitive impairment 8706190 Kmt2b lysine methyltransferase 2B gene DOID:9003133 Hypertelorism ISO RGD:1605411 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hypertelorism 8706190 Kmt2b lysine methyltransferase 2B gene DOID:9003279 Joint Dislocations ISO RGD:1605411 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Joint dislocation 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:9005539 Familial Prostate Cancer ISO RGD:1605411 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial prostate cancer PMID:25741868|PMID:28492532 8706190 Kmt2b lysine methyltransferase 2B gene DOID:9005603 Muscle Hypotonia ISO RGD:1605411 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: muscular hypotonia PMID:25741868|PMID:27992417 8706190 Kmt2b lysine methyltransferase 2B gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1605411 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8706190 Kmt2b lysine methyltransferase 2B gene DOID:9007284 Precocious Puberty ISO RGD:1605411 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Precocious puberty PMID:25741868 8706190 Kmt2b lysine methyltransferase 2B gene DOID:9007428 Muscle Spasticity ISO RGD:1605411 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Spasticity 8706190 Kmt2b lysine methyltransferase 2B gene DOID:9007722 Myoclonus ISO RGD:1605411 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Myoclonus PMID:32581362 8706190 Kmt2b lysine methyltransferase 2B gene DOID:9008086 Developmental Disabilities ISO RGD:1605411 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:27839873|PMID:27992417|PMID:28492532|PMID:33150406 8706190 Kmt2b lysine methyltransferase 2B gene DOID:9009131 Ventriculomegaly ISO RGD:1605411 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ventriculomegaly PMID:25741868 8706190 Kmt2b lysine methyltransferase 2B gene DOID:9009311 Idiopathic Generalized Epilepsy 5 ISO RGD:1605411 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 5 PMID:25741868 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 8706190 Kmt2b lysine methyltransferase 2B gene DOID:9452 steatotic liver disease ISO RGD:1605411 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatic steatosis 8706237 Tsc22d2 TSC22 domain family member 2 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1602336 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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 8706237 Tsc22d2 TSC22 domain family member 2 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1602336 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 8706237 Tsc22d2 TSC22 domain family member 2 gene DOID:5041 esophageal cancer ISO RGD:1602336 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8706237 Tsc22d2 TSC22 domain family member 2 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1602336 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8706237 Tsc22d2 TSC22 domain family member 2 gene DOID:9005024 Hereditary Adrenocortical Carcinoma ISO RGD:1602336 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary 8706237 Tsc22d2 TSC22 domain family member 2 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1602336 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8706237 Tsc22d2 TSC22 domain family member 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1602336 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8706244 Dsg2 desmoglein 2 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1322446 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma PMID:25741868 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 ISO RGD:1322446 D RGD:8554872 20250506 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: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:33996946|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:38417843|PMID:38691546|PMID:38757491|PMID:39227800|PMID:39253717|PMID:40115818|PMID:9536098 8706244 Dsg2 desmoglein 2 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1322446 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: arrhythmogenic right ventricular cardiomyopathy PMID:12586364|PMID:16199547|PMID:16505173|PMID:16773573|PMID:17105751|PMID:17576681|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19151369|PMID:19358943|PMID:19569224|PMID:19863551|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20400443|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21859740|PMID:22000064|PMID:22214898|PMID:23071725|PMID:23137101|PMID:23178689|PMID:23299917|PMID:23381804|PMID:23671136|PMID:23810883|PMID:23861362|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24070718|PMID:24704780|PMID:24967631|PMID:25209314|PMID:25351510|PMID:25616645|PMID:25741868|PMID:25820315|PMID:26138720|PMID:26585103|PMID:26688388|PMID:26850880|PMID:27532257|PMID:28087566|PMID:28254188|PMID:28254189|PMID:28283360|PMID:28471438|PMID:28472724|PMID:28492532|PMID:28588093|PMID:28600387|PMID:29016939|PMID:29038103|PMID:29178656|PMID:29343803|PMID:29456632|PMID:29750433|PMID:29759408|PMID:30165862|PMID:30177324|PMID:30391969|PMID:30454721|PMID:30731207|PMID:30790397|PMID:30830208|PMID:30847666|PMID:31156706|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31542937|PMID:31568572|PMID:31638835|PMID:31737537|PMID:31845994|PMID:31983221|PMID:32268277|PMID:32665702|PMID:32746448|PMID:32877757|PMID:32880476|PMID:33238575|PMID:33821670|PMID:33968641|PMID:34012299|PMID:34400560|PMID:34998950|PMID:35087879|PMID:35352813|PMID:35653365|PMID:35819174|PMID:36138163|PMID:36264615|PMID:36357925|PMID:37328711|PMID:37477868|PMID:37745463|PMID:38417843|PMID:38435382|PMID:38691546|PMID:38895864|PMID:39155900|PMID:39706847|PMID:40115818|PMID:40123482|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: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 20250408 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: TXNRD2-associated 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:38417843|PMID:38691546|PMID:39227800|PMID:39253717|PMID:9536098 8706244 Dsg2 desmoglein 2 gene DOID:0050700 cardiomyopathy ISO RGD:1322446 D RGD:8554872 20250506 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: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:33996946|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:38417843|PMID:38691546|PMID:38757491|PMID:39227800|PMID:39253717|PMID:40115818|PMID:9536098 8706244 Dsg2 desmoglein 2 gene DOID:0050700 cardiomyopathy ISO RGD:1322446 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:12586364|PMID:16199547|PMID:16505173|PMID:16773573|PMID:17105751|PMID:17576681|PMID:18632414|PMID:19151369|PMID:19863551|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20400443|PMID:20716751|PMID:20829228|PMID:20857253|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21859740|PMID:22000064|PMID:22214898|PMID:23071725|PMID:23137101|PMID:23178689|PMID:23299917|PMID:23381804|PMID:23514727|PMID:23671136|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24238504|PMID:24618965|PMID:24704780|PMID:24967631|PMID:25059832|PMID:25209314|PMID:25213555|PMID:25637381|PMID:25741868|PMID:25765472|PMID:25820315|PMID:26138720|PMID:26220970|PMID:26585103|PMID:26688388|PMID:26850880|PMID:27532257|PMID:28087566|PMID:28254188|PMID:28254189|PMID:28288337|PMID:28323875|PMID:28471438|PMID:28492532|PMID:28578331|PMID:28588093|PMID:28600387|PMID:28878402|PMID:29016939|PMID:29178656|PMID:29343803|PMID:29750433|PMID:29759408|PMID:29802319|PMID:30129429|PMID:30165862|PMID:30177324|PMID:30391969|PMID:30454721|PMID:30615648|PMID:30699244|PMID:30731207|PMID:30790397|PMID:30830208|PMID:30847666|PMID:30885746|PMID:30993396|PMID:31156706|PMID:31183845|PMID:31386562|PMID:31402444|PMID:31542937|PMID:31638835|PMID:31645976|PMID:31737537|PMID:31845994|PMID:31983221|PMID:32268277|PMID:32522011|PMID:32569162|PMID:32665702|PMID:32877757|PMID:32880476|PMID:33087929|PMID:33238575|PMID:33500567|PMID:33821670|PMID:33968641|PMID:34012299|PMID:34137518|PMID:34400560|PMID:34998950|PMID:35087879|PMID:35352813|PMID:35653365|PMID:35819174|PMID:35941102|PMID:36136372|PMID:36138163|PMID:36264615|PMID:37288269|PMID:37418234|PMID:37745463|PMID:37937776|PMID:38375917|PMID:38417843|PMID:38435382|PMID:38691546|PMID:38895864|PMID:39155900|PMID:39227800|PMID:39253717|PMID:39706847|PMID:40115818|PMID:40123482|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 20260519 ClinVar ClinVar Annotator: match by term: Cardiac arrest PMID:23861362|PMID:25741868|PMID:28492532 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:0080326 familial hypertrophic cardiomyopathy ISO RGD:1322446 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:25741868 8706244 Dsg2 desmoglein 2 gene DOID:0110077 arrhythmogenic right ventricular dysplasia 9 ISO RGD:1322446 D RGD:8554872 20250701 ClinVar 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: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 20260602 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:16199547|PMID:16505173|PMID:16773573|PMID:17105751|PMID:17576681|PMID:18632414|PMID:19151369|PMID:19635863|PMID:19863551|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20400443|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21859740|PMID:22000064|PMID:22036071|PMID:22214898|PMID:23071725|PMID:23137101|PMID:23178689|PMID:23299917|PMID:23381804|PMID:23514727|PMID:23671136|PMID:23861362|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24070718|PMID:24086444|PMID:24585727|PMID:24704780|PMID:24967631|PMID:25059832|PMID:25209314|PMID:25616645|PMID:25741868|PMID:25819062|PMID:25820315|PMID:26138720|PMID:26585103|PMID:26688388|PMID:26850880|PMID:27532257|PMID:28087566|PMID:28254188|PMID:28254189|PMID:28283360|PMID:28288337|PMID:28416588|PMID:28471438|PMID:28472724|PMID:28492532|PMID:28588093|PMID:28600387|PMID:28611029|PMID:29016939|PMID:29062102|PMID:29178656|PMID:29343803|PMID:29606362|PMID:29750433|PMID:29759408|PMID:29802319|PMID:30165862|PMID:30177324|PMID:30391969|PMID:30454721|PMID:30524916|PMID:30615648|PMID:30731207|PMID:30765282|PMID:30790397|PMID:30830208|PMID:30847666|PMID:30885746|PMID:30975432|PMID:30993396|PMID:30996762|PMID:31156706|PMID:31376648|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31542937|PMID:31638835|PMID:31737537|PMID:31845994|PMID:31983221|PMID:32102357|PMID:32268277|PMID:32569162|PMID:32665702|PMID:32877757|PMID:32880476|PMID:33087929|PMID:33238575|PMID:33500567|PMID:33789662|PMID:33821670|PMID:33874732|PMID:33968641|PMID:34012299|PMID:34137518|PMID:34400560|PMID:34984526|PMID:34998950|PMID:35087879|PMID:35352813|PMID:35653365|PMID:35819174|PMID:35947370|PMID:36136372|PMID:36138163|PMID:36264615|PMID:36360260|PMID:37745463|PMID:37937776|PMID:38375917|PMID:38417843|PMID:38435382|PMID:38691546|PMID:38895864|PMID:39071538|PMID:39155900|PMID:39706847|PMID:40115818|PMID:40123482|PMID:9536098 8706244 Dsg2 desmoglein 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1322446 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | 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: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation PMID:25741868|PMID:28492532 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 20260616 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, 1BB | 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:16199547|PMID:16773573|PMID:17105751|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20400443|PMID:20857253|PMID:21606390|PMID:21606396|PMID:21636032|PMID:22000064|PMID:22214898|PMID:23071725|PMID:23137101|PMID:23381804|PMID:23671136|PMID:23861362|PMID:23871885|PMID:24033266|PMID:24704780|PMID:24967631|PMID:25209314|PMID:25741868|PMID:25820315|PMID:26585103|PMID:26688388|PMID:26850880|PMID:27532257|PMID:28254188|PMID:28254189|PMID:28471438|PMID:28492532|PMID:28588093|PMID:29178656|PMID:29343803|PMID:29759408|PMID:30177324|PMID:30391969|PMID:30454721|PMID:30790397|PMID:30847666|PMID:30885746|PMID:31156706|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31542937|PMID:31737537|PMID:31845994|PMID:32268277|PMID:32569162|PMID:32665702|PMID:32686758|PMID:32877757|PMID:33500567|PMID:33821670|PMID:33949662|PMID:34500006|PMID:35352813|PMID:35819174|PMID:36138163|PMID:36264615|PMID:38375917|PMID:38417843|PMID:39155900|PMID:39706847|PMID:40115818|PMID:40123482|PMID:41652012 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:11830 myopia ISO RGD:1322446 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Myopia PMID:23861362|PMID:25741868|PMID:28492532 8706244 Dsg2 desmoglein 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1322446 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 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: 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:12930 dilated cardiomyopathy ISO RGD:1322446 D RGD:8554872 20250722 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:17105751|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19569224|PMID:20031616|PMID:20603720|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:24704780|PMID:25059832|PMID:25332820|PMID:25445213|PMID:25637381|PMID:25741868|PMID:25820315|PMID:26220970|PMID:26230511|PMID:28074886|PMID:28087566|PMID:28323875|PMID:28492532|PMID:29016939|PMID:29802319|PMID:30615648|PMID:30885746|PMID:31983221|PMID:34137518|PMID:34998950 8706244 Dsg2 desmoglein 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1322446 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:21606390|PMID:21606396|PMID:21636032|PMID:23178689|PMID:23299917|PMID:23889974|PMID:24033266|PMID:25059832|PMID:25741868|PMID:25820315|PMID:28087566|PMID:28492532|PMID:29016939|PMID:29802319|PMID:30615648|PMID:30885746|PMID:34137518|PMID:34998950 8706244 Dsg2 desmoglein 2 gene DOID:1324 lung cancer ISO RGD:1322446 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 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: 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: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:2843 long QT syndrome ISO RGD:1322446 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 8706244 Dsg2 desmoglein 2 gene DOID:3275 thymoma ISO RGD:1322446 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8706244 Dsg2 desmoglein 2 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1322446 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma 8706244 Dsg2 desmoglein 2 gene DOID:4362 cervical cancer ISO RGD:1322446 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8706244 Dsg2 desmoglein 2 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1322446 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 8706244 Dsg2 desmoglein 2 gene DOID:7998 hyperthyroidism ISO RGD:1322446 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hyperthyroidism PMID:23861362|PMID:25741868|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:9001733 Tinnitus ISO RGD:1322446 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Tinnitus PMID:23861362|PMID:25741868|PMID:28492532 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:9003936 Cardiomegaly ISO RGD:1322446 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cardiomegaly PMID:16199547|PMID:17105751|PMID:20400443|PMID:20716751|PMID:20857253|PMID:21859740|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28600387|PMID:30731207|PMID:30790397|PMID:31386562|PMID:31402444|PMID:33238575|PMID:35087879|PMID:35653365 8706244 Dsg2 desmoglein 2 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1322446 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 PMID:25741868 8706244 Dsg2 desmoglein 2 gene DOID:9008023 Memory Disorders ISO RGD:1322446 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Memory impairment PMID:23861362|PMID:25741868|PMID:28492532 8706244 Dsg2 desmoglein 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1322446 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:12586364|PMID:16773573|PMID:20031616|PMID:20031617|PMID:20400443|PMID:20857253|PMID:21606390|PMID:21606396|PMID:23071725|PMID:23137101|PMID:23381804|PMID:24033266|PMID:24704780|PMID:24967631|PMID:25741868|PMID:26688388|PMID:28492532|PMID:29178656|PMID:29343803|PMID:30790397|PMID:31386562|PMID:31542937|PMID:31845994|PMID:32268277|PMID:33821670 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 8706244 Dsg2 desmoglein 2 gene DOID:9651 systolic heart failure ISO RGD:1322446 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Systolic heart failure PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 8706244 Dsg2 desmoglein 2 gene DOID:9970 obesity ISO RGD:1322446 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Obesity PMID:23861362|PMID:25741868|PMID:28492532 8706263 Ube2j2 ubiquitin conjugating enzyme E2 J2 gene DOID:10534 stomach cancer ISO RGD:1343973 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8706263 Ube2j2 ubiquitin conjugating enzyme E2 J2 gene DOID:11054 urinary bladder cancer ISO RGD:1343973 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8706263 Ube2j2 ubiquitin conjugating enzyme E2 J2 gene DOID:1115 sarcoma ISO RGD:1343973 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8706263 Ube2j2 ubiquitin conjugating enzyme E2 J2 gene DOID:1909 melanoma ISO RGD:1343973 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8706263 Ube2j2 ubiquitin conjugating enzyme E2 J2 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1343973 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8706263 Ube2j2 ubiquitin conjugating enzyme E2 J2 gene DOID:6171 uterine carcinosarcoma ISO RGD:1343973 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8706263 Ube2j2 ubiquitin conjugating enzyme E2 J2 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1343973 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8706263 Ube2j2 ubiquitin conjugating enzyme E2 J2 gene DOID:9119 acute myeloid leukemia ISO RGD:1343973 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8706302 Emd emerin gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:735605 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8706302 Emd emerin gene DOID:0050700 cardiomyopathy ISO RGD:735605 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 8706302 Emd emerin gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:735605 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8706302 Emd emerin gene DOID:0051073 dilated cardiomyopathy 3C ISO RGD:735605 D RGD:7240710 20260311 OMIM 8706302 Emd emerin gene DOID:0051073 dilated cardiomyopathy 3C ISO RGD:735605 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, 3C PMID:28492532 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 20260616 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:10382909|PMID:10382910|PMID:10480214|PMID:11385714|PMID:15009215|PMID:16199547|PMID:17576681|PMID:17620497|PMID:21697856|PMID:24033266|PMID:24365856|PMID:24375709|PMID:25210889|PMID:25741868|PMID:26415001|PMID:26467025|PMID:28492532|PMID:30086531|PMID:30847666|PMID:31645980|PMID:32549231|PMID:32600061|PMID:32860008|PMID:32880476|PMID:34026875|PMID:37198425|PMID:8595433|PMID:9384614|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: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation PMID:25741868 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 20260602 ClinVar ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY, X-LINKED | 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:10382910|PMID:10393813|PMID:10480214|PMID:10677860|PMID:11587540|PMID:12490172|PMID:12736087|PMID:15328537|PMID:15967842|PMID:16199547|PMID:17067998|PMID:17355552|PMID:17576681|PMID:17620497|PMID:18646565|PMID:19997654|PMID:21520333|PMID:21697856|PMID:21993399|PMID:23395478|PMID:24033266|PMID:24365856|PMID:24375709|PMID:25210889|PMID:25741868|PMID:26247046|PMID:26415001|PMID:26467025|PMID:26675233|PMID:26899768|PMID:28492532|PMID:29349559|PMID:30079154|PMID:30086531|PMID:30763825|PMID:30847666|PMID:31024910|PMID:31185657|PMID:31474437|PMID:31475473|PMID:31645980|PMID:31690835|PMID:31718017|PMID:31977013|PMID:32600061|PMID:32860008|PMID:32880476|PMID:33124102|PMID:34524739|PMID:34906502|PMID:37198425|PMID:38337354|PMID:39634247|PMID:7894480|PMID:8589715|PMID:8595406|PMID:8595407|PMID:8595433|PMID:9195226|PMID:9266737|PMID:9384614|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:12930 dilated cardiomyopathy ISO RGD:735605 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial dilated cardiomyopathy PMID:25741868 8706302 Emd emerin gene DOID:1324 lung cancer ISO RGD:735605 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8706302 Emd emerin gene DOID:440 neuromuscular disease ISO RGD:735605 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Neuromuscular disease PMID:16199547|PMID:18646565|PMID:24033266|PMID:24365856|PMID:28492532|PMID:8595407 8706302 Emd emerin gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:735605 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8706302 Emd emerin gene DOID:9001276 Failure to Thrive ISO RGD:735605 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:25741868 8706302 Emd emerin gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:735605 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 PMID:25741868|PMID:28492532 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: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 20260602 ClinVar ClinVar Annotator: match by term: Adrenal unresponsiveness to acth | ClinVar Annotator: match by term: GLUCOCORTICOID DEFICIENCY 1 | 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: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:10763 hypertension ISO RGD:1348934 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11082157 8706344 Mc2r melanocortin 2 receptor gene DOID:13580 cholestasis ISO RGD:1348934 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholestasis PMID:25741868 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:5041 esophageal cancer ISO RGD:1348934 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8706344 Mc2r melanocortin 2 receptor gene DOID:630 genetic disease ISO RGD:1348934 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8706344 Mc2r melanocortin 2 receptor gene DOID:9001276 Failure to Thrive ISO RGD:1348934 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:25741868 8706344 Mc2r melanocortin 2 receptor gene DOID:9001878 Disorders of Environmental Origin ISO RGD:628649 D RGD:9068941 20250717 RGD associated with BBOP exposure; mRNA, protein:increased expression:adrenal cortex PMID:35762508|REF_RGD_ID:617212669 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 8706344 Mc2r melanocortin 2 receptor gene DOID:9119 acute myeloid leukemia ISO RGD:1348934 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:736556 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma PMID:21914562|PMID:25741868|PMID:28492532 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:0050758 metabolic acidosis ISO RGD:736556 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Metabolic acidosis PMID:25741868|PMID:38177409 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:736556 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:0060058 lymphoma ISO RGD:736556 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lymphoma PMID:25741868|PMID:28492532 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:0060249 scoliosis ISO RGD:736556 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Scoliosis PMID:25741868|PMID:38177409 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:0060641 endocrine-cerebro-osteodysplasia syndrome ISO RGD:736556 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Dysplastic corpus callosum PMID:12651851|PMID:19517265 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:0070297 primary microcephaly ISO RGD:736556 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Primary microcephaly PMID:23021068|PMID:25741868|PMID:28918066|PMID:34490615|PMID:37688338|PMID:8598634 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:0070338 cerebellar hypoplasia ISO RGD:736556 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cerebellar hypoplasia PMID:21914562|PMID:23021068|PMID:25741868|PMID:28918066|PMID:35943828 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:0080918 polymicrogyria ISO RGD:736556 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Polymicrogyria 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:0090131 complex cortical dysplasia with other brain malformations ISO RGD:736556 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cortical dysplasia PMID:21914562|PMID:23021068|PMID:25741868|PMID:28918066|PMID:35943828 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:0110764 hereditary spastic paraplegia 11 ISO RGD:736556 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gait disturbance PMID:20958858|PMID:21914562|PMID:23021068|PMID:25741868|PMID:28918066 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:10534 stomach cancer ISO RGD:736556 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:25741868 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:1059 intellectual disability ISO RGD:736556 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:20958858|PMID:21914562|PMID:23021068|PMID:25741868|PMID:28918066|PMID:35943828 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:10907 microcephaly ISO RGD:736556 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:10679936|PMID:1293379|PMID:15384102|PMID:17043409|PMID:20002461|PMID:21846590|PMID:21914562|PMID:22079328|PMID:22142326|PMID:23021068|PMID:23112753|PMID:25356417|PMID:25495354|PMID:25741868|PMID:26865159|PMID:28492532|PMID:28918066|PMID:33629572|PMID:33958329|PMID:34490615|PMID:37688338|PMID:38177409|PMID:8352855|PMID:8598634|PMID:8664900|PMID:8962591|PMID:9671272 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:10908 hydrocephalus ISO RGD:736556 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hydrocephalus PMID:21914562|PMID:23021068|PMID:25741868|PMID:28918066|PMID:35943828 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:1143 exotropia ISO RGD:736556 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Exotropia PMID:10679936|PMID:1293379|PMID:15384102|PMID:20002461|PMID:21846590|PMID:21914562|PMID:22079328|PMID:22142326|PMID:23112753|PMID:25356417|PMID:25495354|PMID:25741868|PMID:26865159|PMID:28492532|PMID:28918066|PMID:33629572|PMID:33958329|PMID:8352855|PMID:8664900|PMID:8962591|PMID:9671272 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:1324 lung cancer ISO RGD:736556 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer PMID:25741868 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:13620 patent foramen ovale ISO RGD:736556 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Patent foramen ovale PMID:25741868|PMID:28492532 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:1459 hypothyroidism ISO RGD:736556 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hypothyroidism PMID:25741868 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:1657 ventricular septal defect ISO RGD:736556 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ventricular septal defect PMID:25741868|PMID:28492532|PMID:38177409 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:1826 epilepsy ISO RGD:736556 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:38177409 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:1827 generalized epilepsy ISO RGD:736556 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868|PMID:28492532|PMID:29286531 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:2394 ovarian cancer ISO RGD:736556 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:3275 thymoma ISO RGD:736556 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma PMID:25741868|PMID:28492532 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 20260602 ClinVar ClinVar Annotator: match by term: Ataxia, intermittent, with pyruvate dehydrogenase, or decarboxylase, deficiency | ClinVar Annotator: match by term: Pyruvate decarboxylase deficiency | ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency | ClinVar Annotator: match by term: Pyruvate dehydrogenase deficiency PMID:10679936|PMID:10767328|PMID:1293379|PMID:15384102|PMID:16199547|PMID:16552546|PMID:16967364|PMID:18197404|PMID:19332025|PMID:20002461|PMID:20691944|PMID:20958858|PMID:21846590|PMID:21914562|PMID:23021068|PMID:23871722|PMID:24718837|PMID:25741868|PMID:26014431|PMID:26865159|PMID:26987331|PMID:27144126|PMID:27290639|PMID:28252636|PMID:28492532|PMID:28918066|PMID:29756269|PMID:29882371|PMID:30634555|PMID:32348839|PMID:33092611|PMID:33204598|PMID:35132535|PMID:35943828|PMID:36693417|PMID:38497591|PMID:38549004|PMID:38703036|PMID:38759022|PMID:7887409|PMID:7981697|PMID:8032855|PMID:8598634|PMID:8844217|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:4362 cervical cancer ISO RGD:736556 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:5041 esophageal cancer ISO RGD:736556 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus PMID:25741868|PMID:28492532 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:540 strabismus ISO RGD:736556 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Strabismus PMID:25741868|PMID:38177409 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:543 dystonia ISO RGD:736556 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:17043409|PMID:20958858|PMID:21914562|PMID:23021068|PMID:25741868|PMID:28918066 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:5723 optic atrophy ISO RGD:736556 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:21914562|PMID:23021068|PMID:25741868|PMID:28918066|PMID:35943828 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:736556 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma PMID:25741868 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:6171 uterine carcinosarcoma ISO RGD:736556 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma PMID:25741868|PMID:28492532 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:630 genetic disease ISO RGD:736556 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10375397|PMID:10679936|PMID:10767328|PMID:10872106|PMID:1293379|PMID:1301207|PMID:15384102|PMID:15473177|PMID:16713755|PMID:1909401|PMID:20002125|PMID:20002461|PMID:20958858|PMID:21470495|PMID:21846590|PMID:21914562|PMID:22079328|PMID:22142326|PMID:23021068|PMID:23112753|PMID:23871722|PMID:24718837|PMID:25356417|PMID:25495354|PMID:25741868|PMID:26865159|PMID:27144126|PMID:28492532|PMID:28639102|PMID:28918066|PMID:29756269|PMID:29970614|PMID:32348839|PMID:33092611|PMID:33629572|PMID:33958329|PMID:34490615|PMID:35132535|PMID:35620925|PMID:37688338|PMID:38497591|PMID:39118480|PMID:7757088|PMID:7759088|PMID:7887409|PMID:7981697|PMID:8032855|PMID:8352855|PMID:8504306|PMID:8598634|PMID:8664900|PMID:8962591|PMID:9409363|PMID:9671272 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:6354 chronic lymphocytic leukemia/small lymphocytic lymphoma ISO RGD:736556 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma PMID:25741868|PMID:28492532 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:8927 learning disability ISO RGD:736556 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Specific learning disability PMID:21914562|PMID:23021068|PMID:25741868|PMID:28918066|PMID:35943828 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 20260602 ClinVar ClinVar Annotator: match by term: PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY | ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency PMID:10375397|PMID:10486093|PMID:10567050|PMID:10679936|PMID:10767328|PMID:10775534|PMID:11102541|PMID:11241048|PMID:11757583|PMID:11870584|PMID:12163191|PMID:12227466|PMID:12379317|PMID:12551913|PMID:1293379|PMID:1301207|PMID:14635113|PMID:1508605|PMID:15384102|PMID:15473177|PMID:1551669|PMID:15558317|PMID:16199547|PMID:16256390|PMID:16412675|PMID:16552546|PMID:16713755|PMID:16967364|PMID:16981164|PMID:17043409|PMID:17576681|PMID:1770778|PMID:18023225|PMID:18197404|PMID:18273899|PMID:18398624|PMID:18504677|PMID:18559466|PMID:18692904|PMID:18709504|PMID:1907799|PMID:1909401|PMID:19517265|PMID:19639391|PMID:19852779|PMID:2000212|PMID:20002125|PMID:20002461|PMID:20462777|PMID:20691944|PMID:20958858|PMID:21454027|PMID:21470495|PMID:21723463|PMID:21812000|PMID:21846590|PMID:21914562|PMID:22079328|PMID:22142326|PMID:23021068|PMID:23112753|PMID:23572181|PMID:23871722|PMID:24718837|PMID:25356417|PMID:2537010|PMID:25495354|PMID:25582476|PMID:25590979|PMID:25741868|PMID:26008863|PMID:26014431|PMID:26402642|PMID:26633542|PMID:26865159|PMID:26944031|PMID:26987331|PMID:27144126|PMID:27290639|PMID:27894792|PMID:27896082|PMID:27896109|PMID:28252636|PMID:28492532|PMID:28495245|PMID:28584645|PMID:28639102|PMID:28918066|PMID:29204204|PMID:29756269|PMID:29758562|PMID:29882371|PMID:29970614|PMID:30634555|PMID:30799092|PMID:31618753|PMID:31658717|PMID:31673819|PMID:32348839|PMID:33092611|PMID:33204598|PMID:33504798|PMID:33592356|PMID:33629572|PMID:33958329|PMID:34138529|PMID:34156167|PMID:34490615|PMID:34732400|PMID:34863613|PMID:35038180|PMID:35094435|PMID:35132535|PMID:35620925|PMID:35943828|PMID:36225105|PMID:36675121|PMID:36693417|PMID:36805432|PMID:36943625|PMID:37160702|PMID:37479690|PMID:37688338|PMID:37787965|PMID:38177409|PMID:38268232|PMID:38286917|PMID:38374194|PMID:38497591|PMID:38549004|PMID:38703036|PMID:38759022|PMID:7545958|PMID:7573035|PMID:7692352|PMID:7757088|PMID:7759088|PMID:7808831|PMID:7887409|PMID:7898978|PMID:7937579|PMID:7967473|PMID:7981697|PMID:8023225|PMID:8032855|PMID:8199595|PMID:8281161|PMID:8352855|PMID:8353499|PMID:8504306|PMID:8535453|PMID:8598634|PMID:8598635|PMID:8664900|PMID:8771169|PMID:8844217|PMID:8962591|PMID:9187674|PMID:9266390|PMID:9409363|PMID:9430319|PMID:9536098|PMID:9671272|PMID:9686362 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:9001276 Failure to Thrive ISO RGD:736556 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:25741868|PMID:28492532 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:736556 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Corpus callosum, agenesis of PMID:21914562|PMID:23021068|PMID:25741868|PMID:28918066|PMID:35943828|PMID:38177409 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:9004083 Familial Pancreatic Carcinoma ISO RGD:736556 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial pancreatic carcinoma PMID:25741868|PMID:28492532 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736556 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:10679936|PMID:15473177|PMID:16713755|PMID:1909401|PMID:20002125|PMID:20002461|PMID:21914562|PMID:22142326|PMID:23021068|PMID:24718837|PMID:25741868|PMID:28492532|PMID:28639102|PMID:28918066|PMID:33092611|PMID:35620925|PMID:7887409|PMID:8032855|PMID:8962591|PMID:9409363 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:9004538 Hearing Loss ISO RGD:736556 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:21914562|PMID:23021068|PMID:25741868|PMID:28918066|PMID:34490615|PMID:35943828|PMID:37688338|PMID:8598634 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:9005532 Muscle Weakness ISO RGD:736556 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Muscle weakness PMID:25741868|PMID:28492532|PMID:38703036 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:736556 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia PMID:10679936|PMID:1293379|PMID:15384102|PMID:15473177|PMID:16713755|PMID:1909401|PMID:20002125|PMID:20002461|PMID:21846590|PMID:21914562|PMID:22079328|PMID:22142326|PMID:23021068|PMID:23112753|PMID:24718837|PMID:25356417|PMID:25495354|PMID:25741868|PMID:26865159|PMID:28492532|PMID:28639102|PMID:28918066|PMID:33092611|PMID:33629572|PMID:33958329|PMID:34490615|PMID:35620925|PMID:35943828|PMID:37688338|PMID:38703036|PMID:7887409|PMID:8032855|PMID:8352855|PMID:8598634|PMID:8664900|PMID:8962591|PMID:9409363|PMID:9671272 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:9005926 Leigh Syndrome, X-Linked ISO RGD:736556 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: X-linked Leigh syndrome PMID:10679936|PMID:10767328|PMID:15384102|PMID:16199547|PMID:16552546|PMID:16967364|PMID:20002461|PMID:20958858|PMID:21846590|PMID:21914562|PMID:23021068|PMID:24718837|PMID:25741868|PMID:27144126|PMID:27290639|PMID:28252636|PMID:28492532|PMID:28918066|PMID:29756269|PMID:32348839|PMID:35132535|PMID:36693417|PMID:38497591|PMID:38703036|PMID:7887409|PMID:7981697|PMID:8844217 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:9006202 Pruritus ISO RGD:736556 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Pruritus PMID:25741868|PMID:28492532|PMID:38703036 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:9006534 Nervous System Malformations ISO RGD:736556 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:736556 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 PMID:21914562|PMID:28918066|PMID:38600369 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:9007 sudden infant death syndrome ISO RGD:736556 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sudden infant death syndrome PMID:10679936|PMID:16713755|PMID:1909401|PMID:20002125|PMID:20002461|PMID:21908116|PMID:21914562|PMID:24718837|PMID:25741868|PMID:27629047|PMID:28492532|PMID:28639102|PMID:28918066|PMID:33092611|PMID:35027292|PMID:36675121|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 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:9007114 Mobility Limitation ISO RGD:736556 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Difficulty walking PMID:20958858|PMID:21914562|PMID:23021068|PMID:25741868|PMID:28918066 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:9007428 Muscle Spasticity ISO RGD:736556 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Spasticity PMID:25741868 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:9007661 Dwarfism ISO RGD:736556 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868|PMID:38177409 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:9008086 Developmental Disabilities ISO RGD:736556 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:10679936|PMID:15473177|PMID:16713755|PMID:1909401|PMID:20002125|PMID:20002461|PMID:20958858|PMID:21914562|PMID:22142326|PMID:23021068|PMID:24718837|PMID:25741868|PMID:28492532|PMID:28639102|PMID:28918066|PMID:33092611|PMID:34490615|PMID:35620925|PMID:37688338|PMID:7887409|PMID:8032855|PMID:8598634|PMID:8962591|PMID:9409363 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:736556 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868|PMID:28492532 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:9009021 Plagiocephaly ISO RGD:736556 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Plagiocephaly PMID:10679936|PMID:1293379|PMID:15384102|PMID:20002461|PMID:21846590|PMID:21914562|PMID:22079328|PMID:22142326|PMID:23112753|PMID:25356417|PMID:25495354|PMID:25741868|PMID:26865159|PMID:28492532|PMID:28918066|PMID:33629572|PMID:33958329|PMID:8352855|PMID:8664900|PMID:8962591|PMID:9671272 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:9119 acute myeloid leukemia ISO RGD:736556 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:25741868|PMID:28492532 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:936 brain disease ISO RGD:736556 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Encephalopathy PMID:17043409|PMID:25741868 8706379 Pnpt1 polyribonucleotide nucleotidyltransferase 1 gene DOID:0050117 disease by infectious agent ISO RGD:1317494 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Recurrent infections PMID:25741868 8706379 Pnpt1 polyribonucleotide nucleotidyltransferase 1 gene DOID:0050753 cerebellar ataxia ISO RGD:1317494 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia 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:0050939 uterine corpus endometrial carcinoma ISO RGD:1317494 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8706379 Pnpt1 polyribonucleotide nucleotidyltransferase 1 gene DOID:0050951 hereditary ataxia ISO RGD:1317494 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hereditary ataxia PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 8706379 Pnpt1 polyribonucleotide nucleotidyltransferase 1 gene DOID:0050974 spinocerebellar ataxia 25 ISO RGD:1317494 D RGD:7240710 20220720 OMIM 8706379 Pnpt1 polyribonucleotide nucleotidyltransferase 1 gene DOID:0050974 spinocerebellar ataxia 25 ISO RGD:1317494 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA 25 | ClinVar Annotator: match by term: Spinocerebellar ataxia type 25 PMID:11080643|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:35411967 8706379 Pnpt1 polyribonucleotide nucleotidyltransferase 1 gene DOID:0070338 cerebellar hypoplasia ISO RGD:1317494 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cerebellar hypoplasia PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 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 20260602 ClinVar ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 70 | ClinVar Annotator: match by term: Deafness, autosomal recessive 70 PMID:11080643|PMID:24088041|PMID:25326635|PMID:25457163|PMID:25741868|PMID:26633545|PMID:28492532|PMID:30046113|PMID:30831263|PMID:31752325|PMID:32020600|PMID:32313153|PMID:33199448 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 20260616 ClinVar ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13 | ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 13 PMID:11080643|PMID:17576681|PMID:25326635|PMID:25457163|PMID:25741868|PMID:26633542|PMID:27759031|PMID:28492532|PMID:30046113|PMID:30831263|PMID:31752325|PMID:32020600|PMID:32313153|PMID:33812062|PMID:9536098 8706379 Pnpt1 polyribonucleotide nucleotidyltransferase 1 gene DOID:10534 stomach cancer ISO RGD:1317494 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8706379 Pnpt1 polyribonucleotide nucleotidyltransferase 1 gene DOID:1059 intellectual disability ISO RGD:1317494 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Intellectual disability 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:10907 microcephaly ISO RGD:1317494 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Microcephaly 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:11054 urinary bladder cancer ISO RGD:1317494 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8706379 Pnpt1 polyribonucleotide nucleotidyltransferase 1 gene DOID:11830 myopia ISO RGD:1317494 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Myopia PMID:24088041|PMID:25741868|PMID:26633545|PMID:28492532|PMID:33199448 8706379 Pnpt1 polyribonucleotide nucleotidyltransferase 1 gene DOID:1279 ocular motility disease ISO RGD:1317494 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Opsoclonus 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:1324 lung cancer ISO RGD:1317494 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8706379 Pnpt1 polyribonucleotide nucleotidyltransferase 1 gene DOID:1389 polyneuropathy ISO RGD:1317494 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Polyneuropathy 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:1596 depressive disorder ISO RGD:1317494 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Depression PMID:24088041|PMID:25741868|PMID:26633545|PMID:28492532|PMID:33199448 8706379 Pnpt1 polyribonucleotide nucleotidyltransferase 1 gene DOID:1826 epilepsy ISO RGD:1317494 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Seizure PMID:11080643|PMID:24088041|PMID:25326635|PMID:25457163|PMID:25741868|PMID:26633545|PMID:28492532|PMID:30046113|PMID:30831263|PMID:31752325|PMID:32020600|PMID:32313153|PMID:33199448 8706379 Pnpt1 polyribonucleotide nucleotidyltransferase 1 gene DOID:2030 anxiety disorder ISO RGD:1317494 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Anxiety PMID:24088041|PMID:25741868|PMID:26633545|PMID:28492532|PMID:33199448 8706379 Pnpt1 polyribonucleotide nucleotidyltransferase 1 gene DOID:2394 ovarian cancer ISO RGD:1317494 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian cancer 8706379 Pnpt1 polyribonucleotide nucleotidyltransferase 1 gene DOID:3275 thymoma ISO RGD:1317494 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8706379 Pnpt1 polyribonucleotide nucleotidyltransferase 1 gene DOID:3650 lactic acidosis ISO RGD:1317494 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lactic acidosis PMID:25741868 8706379 Pnpt1 polyribonucleotide nucleotidyltransferase 1 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1317494 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma 8706379 Pnpt1 polyribonucleotide nucleotidyltransferase 1 gene DOID:4074 pancreatic adenocarcinoma ISO RGD:1317494 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma 8706379 Pnpt1 polyribonucleotide nucleotidyltransferase 1 gene DOID:4362 cervical cancer ISO RGD:1317494 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8706379 Pnpt1 polyribonucleotide nucleotidyltransferase 1 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1317494 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 8706379 Pnpt1 polyribonucleotide nucleotidyltransferase 1 gene DOID:4947 cholangiocarcinoma ISO RGD:1317494 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 8706379 Pnpt1 polyribonucleotide nucleotidyltransferase 1 gene DOID:5041 esophageal cancer ISO RGD:1317494 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 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:5746 ovarian serous cystadenocarcinoma ISO RGD:1317494 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma PMID:25741868 8706379 Pnpt1 polyribonucleotide nucleotidyltransferase 1 gene DOID:6039 uveal melanoma ISO RGD:1317494 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uveal melanoma 8706379 Pnpt1 polyribonucleotide nucleotidyltransferase 1 gene DOID:6171 uterine carcinosarcoma ISO RGD:1317494 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 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 20260519 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11080643|PMID:24088041|PMID:25326635|PMID:25457163|PMID:25741868|PMID:26633545|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:684 hepatocellular carcinoma ISO RGD:1317494 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8706379 Pnpt1 polyribonucleotide nucleotidyltransferase 1 gene DOID:9001276 Failure to Thrive ISO RGD:1317494 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Failure to thrive 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:9002775 Cognitive Dysfunction ISO RGD:1317494 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cognitive impairment PMID:24088041|PMID:25741868|PMID:26633545|PMID:28492532|PMID:33199448 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:9004538 Hearing Loss ISO RGD:1317494 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:25741868|PMID:28492532|PMID:28594066|PMID:30244537|PMID:32020600 8706379 Pnpt1 polyribonucleotide nucleotidyltransferase 1 gene DOID:9004866 Ataxia ISO RGD:1317494 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ataxia PMID:11080643|PMID:17576681|PMID:25326635|PMID:25457163|PMID:25741868|PMID:28492532|PMID:30046113|PMID:30831263|PMID:31752325|PMID:32020600|PMID:32313153|PMID:9536098 8706379 Pnpt1 polyribonucleotide nucleotidyltransferase 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:1317494 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia PMID:11080643|PMID:24088041|PMID:25326635|PMID:25457163|PMID:25741868|PMID:26633545|PMID:28492532|PMID:30046113|PMID:30831263|PMID:31752325|PMID:32020600|PMID:32313153|PMID:33199448 8706379 Pnpt1 polyribonucleotide nucleotidyltransferase 1 gene DOID:9007661 Dwarfism ISO RGD:1317494 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Short stature 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:9008023 Memory Disorders ISO RGD:1317494 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Memory impairment PMID:24088041|PMID:25741868|PMID:26633545|PMID:28492532|PMID:33199448 8706379 Pnpt1 polyribonucleotide nucleotidyltransferase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1317494 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Global developmental delay 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:9008385 Vomiting ISO RGD:1317494 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Vomiting 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:9008952 Breast Cancer, Familial ISO RGD:1317494 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868|PMID:28492532 8706379 Pnpt1 polyribonucleotide nucleotidyltransferase 1 gene DOID:9650 pathologic nystagmus ISO RGD:1317494 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nystagmus PMID:11080643|PMID:25326635|PMID:25457163|PMID:25741868|PMID:28492532|PMID:28594066|PMID:30046113|PMID:30244537|PMID:30831263|PMID:31752325|PMID:32020600|PMID:32313153 8706379 Pnpt1 polyribonucleotide nucleotidyltransferase 1 gene DOID:9834 hyperopia ISO RGD:1317494 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hypermetropia PMID:11080643|PMID:24088041|PMID:25326635|PMID:25457163|PMID:25741868|PMID:26633545|PMID:28492532|PMID:30046113|PMID:30831263|PMID:31752325|PMID:32020600|PMID:32313153|PMID:33199448 8706379 Pnpt1 polyribonucleotide nucleotidyltransferase 1 gene DOID:9840 esotropia ISO RGD:1317494 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Esotropia PMID:11080643|PMID:25326635|PMID:25457163|PMID:25741868|PMID:28492532|PMID:30046113|PMID:30831263|PMID:31752325|PMID:32020600|PMID:32313153 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 8706442 Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1316107 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 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:0050939 uterine corpus endometrial carcinoma ISO RGD:1316107 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8706442 Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1316107 D RGD:8554872 20260616 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: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: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 20260616 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6 | ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 6 PMID:11220739|PMID:17576681|PMID:20818383|PMID:20819849|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 20260616 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:17576681|PMID:25741868|PMID:28031252|PMID:28492532|PMID:29573043|PMID:9536098 8706442 Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:10534 stomach cancer ISO RGD:1316107 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:20818383|PMID:28492532|PMID:31411514 8706442 Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:11054 urinary bladder cancer ISO RGD:1316107 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder PMID:17576681|PMID:25741868|PMID:28492532|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:1324 lung cancer ISO RGD:1316107 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Lung cancer PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 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:3275 thymoma ISO RGD:1316107 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 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:5041 esophageal cancer ISO RGD:1316107 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8706442 Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:5723 optic atrophy ISO RGD:1316107 D RGD:8554872 20260616 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:5746 ovarian serous cystadenocarcinoma ISO RGD:1316107 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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 20260616 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|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:684 hepatocellular carcinoma ISO RGD:1316107 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 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 20260519 ClinVar ClinVar Annotator: match by term: Leber hereditary optic neuropathy, autosomal recessive 2 | ClinVar Annotator: match by term: NDUFS2-related condition PMID:20818383|PMID:25741868|PMID:28031252|PMID:28050010|PMID:28492532 8706442 Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1316107 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial prostate cancer 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:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1316107 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8706460 Asap1 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1354069 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8706460 Asap1 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1354069 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8706460 Asap1 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 gene DOID:10534 stomach cancer ISO RGD:1354069 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8706460 Asap1 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 gene DOID:11054 urinary bladder cancer ISO RGD:1354069 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8706460 Asap1 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 gene DOID:1115 sarcoma ISO RGD:1354069 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8706460 Asap1 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 gene DOID:1324 lung cancer ISO RGD:1354069 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8706460 Asap1 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 gene DOID:2394 ovarian cancer ISO RGD:1354069 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian cancer 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:3070 high grade glioma ISO RGD:1354069 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Glioma susceptibility 1 8706460 Asap1 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 gene DOID:3275 thymoma ISO RGD:1354069 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8706460 Asap1 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1354069 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma 8706460 Asap1 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 gene DOID:4074 pancreatic adenocarcinoma ISO RGD:1354069 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma 8706460 Asap1 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 gene DOID:5041 esophageal cancer ISO RGD:1354069 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8706460 Asap1 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1354069 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8706460 Asap1 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 gene DOID:6354 chronic lymphocytic leukemia/small lymphocytic lymphoma ISO RGD:1354069 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma 8706460 Asap1 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 gene DOID:676 systemic juvenile rheumatoid arthritis ISO RGD:1354069 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8706460 Asap1 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1354069 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8706460 Asap1 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 gene DOID:9004083 Familial Pancreatic Carcinoma ISO RGD:1354069 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial pancreatic carcinoma 8706460 Asap1 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1354069 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8706460 Asap1 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1354069 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8706460 Asap1 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1354069 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8706504 Tmem248 transmembrane protein 248 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1602880 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8706504 Tmem248 transmembrane protein 248 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1602880 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8706504 Tmem248 transmembrane protein 248 gene DOID:1909 melanoma ISO RGD:1602880 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8706504 Tmem248 transmembrane protein 248 gene DOID:4362 cervical cancer ISO RGD:1602880 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8706504 Tmem248 transmembrane protein 248 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1602880 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8706504 Tmem248 transmembrane protein 248 gene DOID:9004083 Familial Pancreatic Carcinoma ISO RGD:1602880 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial pancreatic carcinoma 8706504 Tmem248 transmembrane protein 248 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1602880 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8706521 Lrrc14 leucine rich repeat containing 14 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1348401 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8706521 Lrrc14 leucine rich repeat containing 14 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1348401 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8706553 Tial1 TIA1 cytotoxic granule associated RNA binding protein like 1 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1345557 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8706553 Tial1 TIA1 cytotoxic granule associated RNA binding protein like 1 gene DOID:10534 stomach cancer ISO RGD:1345557 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8706553 Tial1 TIA1 cytotoxic granule associated RNA binding protein like 1 gene DOID:11054 urinary bladder cancer ISO RGD:1345557 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8706553 Tial1 TIA1 cytotoxic granule associated RNA binding protein like 1 gene DOID:1115 sarcoma ISO RGD:1345557 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8706553 Tial1 TIA1 cytotoxic granule associated RNA binding protein like 1 gene DOID:1909 melanoma ISO RGD:1345557 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 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:234 colon adenocarcinoma ISO RGD:1345557 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 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:3275 thymoma ISO RGD:1345557 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8706553 Tial1 TIA1 cytotoxic granule associated RNA binding protein like 1 gene DOID:4074 pancreatic adenocarcinoma ISO RGD:1345557 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma 8706553 Tial1 TIA1 cytotoxic granule associated RNA binding protein like 1 gene DOID:4362 cervical cancer ISO RGD:1345557 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8706553 Tial1 TIA1 cytotoxic granule associated RNA binding protein like 1 gene DOID:4947 cholangiocarcinoma ISO RGD:1345557 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 8706553 Tial1 TIA1 cytotoxic granule associated RNA binding protein like 1 gene DOID:5041 esophageal cancer ISO RGD:1345557 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8706553 Tial1 TIA1 cytotoxic granule associated RNA binding protein like 1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1345557 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8706553 Tial1 TIA1 cytotoxic granule associated RNA binding protein like 1 gene DOID:6039 uveal melanoma ISO RGD:1345557 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uveal melanoma 8706553 Tial1 TIA1 cytotoxic granule associated RNA binding protein like 1 gene DOID:6171 uterine carcinosarcoma ISO RGD:1345557 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 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 8706553 Tial1 TIA1 cytotoxic granule associated RNA binding protein like 1 gene DOID:9005024 Hereditary Adrenocortical Carcinoma ISO RGD:1345557 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary 8706553 Tial1 TIA1 cytotoxic granule associated RNA binding protein like 1 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1345557 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8706553 Tial1 TIA1 cytotoxic granule associated RNA binding protein like 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1345557 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8706553 Tial1 TIA1 cytotoxic granule associated RNA binding protein like 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1345557 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8706553 Tial1 TIA1 cytotoxic granule associated RNA binding protein like 1 gene DOID:9256 colorectal cancer ISO RGD:1345557 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colorectal cancer 8706591 Klf17 KLF transcription factor 17 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1344784 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8706603 Pkn1 protein kinase N1 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1352784 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8706603 Pkn1 protein kinase N1 gene DOID:10534 stomach cancer ISO RGD:1352784 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8706603 Pkn1 protein kinase N1 gene DOID:1115 sarcoma ISO RGD:1352784 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8706603 Pkn1 protein kinase N1 gene DOID:1324 lung cancer ISO RGD:1352784 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8706603 Pkn1 protein kinase N1 gene DOID:1909 melanoma ISO RGD:1352784 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8706603 Pkn1 protein kinase N1 gene DOID:4362 cervical cancer ISO RGD:1352784 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8706603 Pkn1 protein kinase N1 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1352784 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 8706603 Pkn1 protein kinase N1 gene DOID:4947 cholangiocarcinoma ISO RGD:1352784 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 8706603 Pkn1 protein kinase N1 gene DOID:5041 esophageal cancer ISO RGD:1352784 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8706603 Pkn1 protein kinase N1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1352784 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8706603 Pkn1 protein kinase N1 gene DOID:684 hepatocellular carcinoma ISO RGD:1352784 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8706603 Pkn1 protein kinase N1 gene DOID:9002514 Neointima ameliorates ISO RGD:69308 D RGD:9068941 20230413 RGD PMID:22893700|REF_RGD_ID:243065233 8706603 Pkn1 protein kinase N1 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1352784 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8706603 Pkn1 protein kinase N1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1352784 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8706603 Pkn1 protein kinase N1 gene DOID:9119 acute myeloid leukemia ISO RGD:1352784 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8706603 Pkn1 protein kinase N1 gene DOID:9256 colorectal cancer ISO RGD:1352784 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colorectal cancer 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:1909 melanoma ISO RGD:1346012 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8706640 Hao2 hydroxyacid oxidase 2 gene DOID:4074 pancreatic adenocarcinoma ISO RGD:1346012 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma 8706640 Hao2 hydroxyacid oxidase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1346012 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 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:1324 lung cancer ISO RGD:1352165 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8706654 Ndel1 nudE neurodevelopment protein 1 like 1 gene DOID:234 colon adenocarcinoma ISO RGD:1352165 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8706654 Ndel1 nudE neurodevelopment protein 1 like 1 gene DOID:4074 pancreatic adenocarcinoma ISO RGD:1352165 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma 8706654 Ndel1 nudE neurodevelopment protein 1 like 1 gene DOID:4362 cervical cancer ISO RGD:1352165 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 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:5746 ovarian serous cystadenocarcinoma ISO RGD:1352165 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8706654 Ndel1 nudE neurodevelopment protein 1 like 1 gene DOID:676 systemic juvenile rheumatoid arthritis ISO RGD:1352165 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8706654 Ndel1 nudE neurodevelopment protein 1 like 1 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1352165 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 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 syndrome 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:0050939 uterine corpus endometrial carcinoma ISO RGD:1349104 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8706715 Tmem243 transmembrane protein 243 gene DOID:0060058 lymphoma ISO RGD:1349104 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lymphoma 8706715 Tmem243 transmembrane protein 243 gene DOID:10534 stomach cancer ISO RGD:1349104 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8706715 Tmem243 transmembrane protein 243 gene DOID:1115 sarcoma ISO RGD:1349104 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8706715 Tmem243 transmembrane protein 243 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1349104 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8706723 Gmps guanosine monophosphate synthase gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1320749 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8706723 Gmps guanosine 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 guanosine monophosphate synthase gene DOID:10534 stomach cancer ISO RGD:1320749 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8706723 Gmps guanosine monophosphate synthase gene DOID:1115 sarcoma ISO RGD:1320749 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8706723 Gmps guanosine monophosphate synthase gene DOID:3275 thymoma ISO RGD:1320749 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8706723 Gmps guanosine monophosphate synthase gene DOID:4362 cervical cancer ISO RGD:1320749 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8706723 Gmps guanosine monophosphate synthase gene DOID:4947 cholangiocarcinoma ISO RGD:1320749 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 8706723 Gmps guanosine monophosphate synthase gene DOID:5041 esophageal cancer ISO RGD:1320749 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8706723 Gmps guanosine monophosphate synthase gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1320749 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8706723 Gmps guanosine monophosphate synthase gene DOID:6171 uterine carcinosarcoma ISO RGD:1320749 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8706723 Gmps guanosine monophosphate synthase gene DOID:684 hepatocellular carcinoma ISO RGD:1320749 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8706723 Gmps guanosine monophosphate synthase gene DOID:9003566 Mesothelioma ISO RGD:1320749 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Mesothelioma 8706723 Gmps guanosine 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 guanosine 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 8706723 Gmps guanosine monophosphate synthase gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1320749 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8706723 Gmps guanosine monophosphate synthase gene DOID:9008952 Breast Cancer, Familial ISO RGD:1320749 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8706723 Gmps guanosine monophosphate synthase gene DOID:9256 colorectal cancer ISO RGD:1320749 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colorectal cancer 8706749 Prpf8 pre-mRNA processing factor 8 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1313510 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8706749 Prpf8 pre-mRNA processing factor 8 gene DOID:0051061 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: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 20260602 ClinVar ClinVar Annotator: match by term: PRPF8-related condition | ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 13 | ClinVar Annotator: match by term: Retinitis pigmentosa 13 PMID:11468273|PMID:11910553|PMID:12714658|PMID:16799052|PMID:17061239|PMID:18695108|PMID:20232351|PMID:22277662|PMID:23950152|PMID:25741868|PMID:28492532|PMID:28515276|PMID:30360737|PMID:33691693|PMID:36819107|PMID:37734845 8706749 Prpf8 pre-mRNA processing factor 8 gene DOID:10534 stomach cancer ISO RGD:1313510 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 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 20260519 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:11468273|PMID:12714658|PMID:16799052|PMID:17576681|PMID:21378395|PMID:25741868|PMID:28041643|PMID:28492532|PMID:28515276|PMID:29847639|PMID:30718709|PMID:31213501|PMID:31725702|PMID:32581362|PMID:33090715|PMID:34758253|PMID:34906470|PMID:36909829|PMID:9536098 8706749 Prpf8 pre-mRNA processing factor 8 gene DOID:11054 urinary bladder cancer ISO RGD:1313510 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8706749 Prpf8 pre-mRNA processing factor 8 gene DOID:1909 melanoma ISO RGD:1313510 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8706749 Prpf8 pre-mRNA processing factor 8 gene DOID:3070 high grade glioma ISO RGD:1313510 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Glioma susceptibility 1 8706749 Prpf8 pre-mRNA processing factor 8 gene DOID:3275 thymoma ISO RGD:1313510 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8706749 Prpf8 pre-mRNA processing factor 8 gene DOID:4362 cervical cancer ISO RGD:1313510 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 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:5746 ovarian serous cystadenocarcinoma ISO RGD:1313510 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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 20260519 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19344873|PMID:27535533|PMID:28492532 8706749 Prpf8 pre-mRNA processing factor 8 gene DOID:8501 fundus dystrophy ISO RGD:1313510 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11468273|PMID:16799052|PMID:17061239|PMID:18695108|PMID:20232351|PMID:21378395|PMID:23950152|PMID:24938718|PMID:25741868|PMID:28076437|PMID:28492532|PMID:28515276|PMID:28559085|PMID:28707069|PMID:28761320|PMID:28798898|PMID:30029497|PMID:31087526|PMID:32531858|PMID:33157387|PMID:33576794|PMID:33598457|PMID:33781268|PMID:34321860|PMID:34906470|PMID:3646071|PMID:36819107 8706749 Prpf8 pre-mRNA processing factor 8 gene DOID:9002569 Overweight ISO RGD:1313510 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Overweight PMID:25741868 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:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1313510 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 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 8706749 Prpf8 pre-mRNA processing factor 8 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1313510 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8706749 Prpf8 pre-mRNA processing factor 8 gene DOID:9119 acute myeloid leukemia ISO RGD:1313510 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8706812 Mest mesoderm specific transcript gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1345318 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 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:0050939 uterine corpus endometrial carcinoma ISO RGD:1345318 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8706812 Mest mesoderm specific transcript gene DOID:1324 lung cancer ISO RGD:1345318 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8706812 Mest mesoderm specific transcript gene DOID:3070 high grade glioma ISO RGD:1345318 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Glioma susceptibility 1 8706812 Mest mesoderm specific transcript gene DOID:3275 thymoma ISO RGD:1345318 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8706812 Mest mesoderm specific transcript gene DOID:4362 cervical cancer ISO RGD:1345318 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8706812 Mest mesoderm specific transcript gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1345318 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 8706812 Mest mesoderm specific transcript gene DOID:4947 cholangiocarcinoma ISO RGD:1345318 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 8706812 Mest mesoderm specific transcript gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1345318 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1345318 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 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 8706812 Mest mesoderm specific transcript gene DOID:9008952 Breast Cancer, Familial ISO RGD:1345318 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8706848 Cct4 chaperonin containing TCP1 subunit 4 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1345648 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8706848 Cct4 chaperonin containing TCP1 subunit 4 gene DOID:0050548 hereditary sensory and autonomic neuropathy ISO RGD:727937 D RGD:9068941 20200609 RGD PMID:12874111|REF_RGD_ID:1299607 8706848 Cct4 chaperonin containing TCP1 subunit 4 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1345648 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8706848 Cct4 chaperonin containing TCP1 subunit 4 gene DOID:10534 stomach cancer ISO RGD:1345648 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8706848 Cct4 chaperonin containing TCP1 subunit 4 gene DOID:11054 urinary bladder cancer ISO RGD:1345648 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8706848 Cct4 chaperonin containing TCP1 subunit 4 gene DOID:1115 sarcoma ISO RGD:1345648 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8706848 Cct4 chaperonin containing TCP1 subunit 4 gene DOID:234 colon adenocarcinoma ISO RGD:1345648 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8706848 Cct4 chaperonin containing TCP1 subunit 4 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1345648 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma 8706848 Cct4 chaperonin containing TCP1 subunit 4 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1345648 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8706848 Cct4 chaperonin containing TCP1 subunit 4 gene DOID:6171 uterine carcinosarcoma ISO RGD:1345648 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8706848 Cct4 chaperonin containing TCP1 subunit 4 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1345648 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8706848 Cct4 chaperonin containing TCP1 subunit 4 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1345648 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8706876 Tmem278 transmembrane protein 278 gene DOID:10534 stomach cancer ISO RGD:2802463 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8706876 Tmem278 transmembrane protein 278 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:2802463 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8706882 Mospd1 motile sperm domain containing 1 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1347086 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8706882 Mospd1 motile sperm domain containing 1 gene DOID:11054 urinary bladder cancer ISO RGD:1347086 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8706882 Mospd1 motile sperm domain containing 1 gene DOID:1909 melanoma ISO RGD:1347086 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8706882 Mospd1 motile sperm domain containing 1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1347086 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8706882 Mospd1 motile sperm domain containing 1 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1347086 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8706896 Pycr1 pyrroline-5-carboxylate reductase 1 gene DOID:0050700 cardiomyopathy ISO RGD:1317303 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 8706896 Pycr1 pyrroline-5-carboxylate reductase 1 gene DOID:0060249 scoliosis ISO RGD:1317303 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Scoliosis PMID:19576563|PMID:19648921|PMID:24035636|PMID:25741868|PMID:25741869|PMID:26516448|PMID:28294978|PMID:28492532|PMID:33125268 8706896 Pycr1 pyrroline-5-carboxylate reductase 1 gene DOID:0060930 developmental dysplasia of the hip ISO RGD:1317303 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Developmental dysplasia of the hip PMID:19648921|PMID:24035636|PMID:25741868 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 20260602 ClinVar ClinVar Annotator: match by term: Autosomal recessive cutis laxa type 2B | ClinVar Annotator: match by term: CUTIS LAXA WITH PROGEROID FEATURES | ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB | ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type IIB PMID:19648921|PMID:21834030|PMID:23963297|PMID:24035636|PMID:25741868|PMID:25741869|PMID:25865492|PMID:28194412|PMID:28294978|PMID:28454995|PMID:28492532|PMID:28499588|PMID:30450527|PMID:31108370|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 20260602 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:19648921|PMID:21567914|PMID:21834030|PMID:23406396|PMID:23963297|PMID:24035636|PMID:25741868|PMID:25865492|PMID:28194412|PMID:28294978|PMID:28454995|PMID:28492532|PMID:30138938|PMID:30450527|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 20260602 ClinVar ClinVar Annotator: match by term: Wiedemann-Rautenstrauch-like progeroid syndrome PMID:19648921|PMID:21834030|PMID:23963297|PMID:24035636|PMID:25741868|PMID:25865492|PMID:28194412|PMID:28492532|PMID:30450527 8706896 Pycr1 pyrroline-5-carboxylate reductase 1 gene DOID:10907 microcephaly ISO RGD:1317303 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:19648921|PMID:21739576|PMID:21834030|PMID:23963297|PMID:24035636|PMID:24913064|PMID:25741868|PMID:25865492|PMID:28194412|PMID:28492532|PMID:30450527 8706896 Pycr1 pyrroline-5-carboxylate reductase 1 gene DOID:11830 myopia ISO RGD:1317303 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Myopia PMID:25741868|PMID:28492532 8706896 Pycr1 pyrroline-5-carboxylate reductase 1 gene DOID:14766 renal agenesis ISO RGD:1317303 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Renal agenesis PMID:19648921|PMID:25741868 8706896 Pycr1 pyrroline-5-carboxylate reductase 1 gene DOID:1596 depressive disorder ISO RGD:1317303 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Depression PMID:25741868|PMID:28492532 8706896 Pycr1 pyrroline-5-carboxylate reductase 1 gene DOID:2030 anxiety disorder ISO RGD:1317303 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Anxiety PMID:25741868|PMID:28492532 8706896 Pycr1 pyrroline-5-carboxylate reductase 1 gene DOID:3144 cutis laxa ISO RGD:1317303 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Cutis laxa PMID:19648921|PMID:21739576|PMID:21834030|PMID:23963297|PMID:24035636|PMID:24913064|PMID:25741868|PMID:25865492|PMID:28194412|PMID:28294978|PMID:28492532|PMID:30450527 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:540 strabismus ISO RGD:1317303 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Strabismus PMID:19648921|PMID:21834030|PMID:23963297|PMID:24035636|PMID:25741868|PMID:28492532|PMID:30450527 8706896 Pycr1 pyrroline-5-carboxylate reductase 1 gene DOID:630 genetic disease ISO RGD:1317303 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16233902|PMID:19648921|PMID:24035636|PMID:25741868|PMID:28492532|PMID:30138938 8706896 Pycr1 pyrroline-5-carboxylate reductase 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1317303 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868|PMID:28492532 8706896 Pycr1 pyrroline-5-carboxylate reductase 1 gene DOID:9000808 Hypercholesterolemia ISO RGD:1317303 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia PMID:25741868|PMID:28492532 8706896 Pycr1 pyrroline-5-carboxylate reductase 1 gene DOID:9001276 Failure to Thrive ISO RGD:1317303 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:19648921|PMID:24035636|PMID:25741868 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:9002231 Fetal Growth Retardation ISO RGD:1317303 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Intrauterine growth retardation PMID:23531708|PMID:24035636|PMID:25741868 8706896 Pycr1 pyrroline-5-carboxylate reductase 1 gene DOID:9002278 Metabolic Bone Diseases ISO RGD:1317303 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Osteopenia PMID:19648921|PMID:21834030|PMID:23963297|PMID:24035636|PMID:25741868|PMID:28492532|PMID:30450527 8706896 Pycr1 pyrroline-5-carboxylate reductase 1 gene DOID:9003507 Premature Birth ISO RGD:1317303 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Premature birth PMID:25741868|PMID:28492532 8706896 Pycr1 pyrroline-5-carboxylate reductase 1 gene DOID:9004014 Adducted Thumbs Syndrome ISO RGD:1317303 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thumbs, congenital Clasped PMID:19648921|PMID:21834030|PMID:23963297|PMID:24035636|PMID:25741868|PMID:28492532|PMID:30450527 8706896 Pycr1 pyrroline-5-carboxylate reductase 1 gene DOID:9005077 Joint Instability ISO RGD:1317303 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Joint hypermobility PMID:25741868|PMID:28492532 8706896 Pycr1 pyrroline-5-carboxylate reductase 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:1317303 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hypotonia PMID:19648921|PMID:21834030|PMID:23963297|PMID:24035636|PMID:25741868|PMID:28492532|PMID:30450527 8706896 Pycr1 pyrroline-5-carboxylate reductase 1 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1317303 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8706896 Pycr1 pyrroline-5-carboxylate reductase 1 gene DOID:9007078 Hip Dislocation ISO RGD:1317303 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hip dislocation PMID:19648921|PMID:21834030|PMID:23963297|PMID:24035636|PMID:25741868|PMID:28492532|PMID:30450527 8706896 Pycr1 pyrroline-5-carboxylate reductase 1 gene DOID:9007661 Dwarfism ISO RGD:1317303 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868|PMID:28492532 8706896 Pycr1 pyrroline-5-carboxylate reductase 1 gene DOID:9008023 Memory Disorders ISO RGD:1317303 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Memory impairment PMID:25741868|PMID:28492532 8706896 Pycr1 pyrroline-5-carboxylate reductase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1317303 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:19648921|PMID:23963297|PMID:24035636|PMID:25741868|PMID:25865492|PMID:28194412|PMID:28492532|PMID:30450527 8706896 Pycr1 pyrroline-5-carboxylate reductase 1 gene DOID:9009021 Plagiocephaly ISO RGD:1317303 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Plagiocephaly PMID:19648921|PMID:24035636|PMID:25741868 8706896 Pycr1 pyrroline-5-carboxylate reductase 1 gene DOID:9834 hyperopia ISO RGD:1317303 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hypermetropia PMID:25741868|PMID:28492532 8706896 Pycr1 pyrroline-5-carboxylate reductase 1 gene DOID:9970 obesity ISO RGD:1317303 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Obesity PMID:25741868|PMID:28492532 8706913 Ube2v2 ubiquitin conjugating enzyme E2 V2 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1318163 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8706913 Ube2v2 ubiquitin conjugating enzyme E2 V2 gene DOID:3275 thymoma ISO RGD:1318163 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8706913 Ube2v2 ubiquitin conjugating enzyme E2 V2 gene DOID:4362 cervical cancer ISO RGD:1318163 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8706913 Ube2v2 ubiquitin conjugating enzyme E2 V2 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1318163 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 8706913 Ube2v2 ubiquitin conjugating enzyme E2 V2 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1318163 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8706913 Ube2v2 ubiquitin conjugating enzyme E2 V2 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1318163 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 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:1115 sarcoma ISO RGD:1348156 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8706926 Creg1 cellular repressor of E1A stimulated genes 1 gene DOID:1324 lung cancer ISO RGD:1348156 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8706926 Creg1 cellular repressor of E1A stimulated genes 1 gene DOID:5041 esophageal cancer ISO RGD:1348156 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8706926 Creg1 cellular repressor of E1A stimulated genes 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1348156 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 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: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:0050387 nonpapillary renal cell carcinoma ISO RGD:737460 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8706936 Apod apolipoprotein D gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:737460 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8706936 Apod apolipoprotein D gene DOID:0051061 stroke ISO RGD:2137 D RGD:9068941 20200609 RGD PMID:17851453|REF_RGD_ID:2311182 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:8554872 20260519 ClinVar ClinVar Annotator: match by term: Glioma susceptibility 1 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:684 hepatocellular carcinoma ISO RGD:737460 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 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:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:737460 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 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:0050387 nonpapillary renal cell carcinoma ISO RGD:1605037 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma PMID:25741868|PMID:28492532 8706948 Pgap1 post-GPI attachment to proteins inositol deacylase 1 gene DOID:10534 stomach cancer ISO RGD:1605037 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:24784135|PMID:25741868|PMID:28492532 8706948 Pgap1 post-GPI attachment to proteins inositol deacylase 1 gene DOID:1059 intellectual disability ISO RGD:1605037 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability PMID:25741868 8706948 Pgap1 post-GPI attachment to proteins inositol deacylase 1 gene DOID:1324 lung cancer ISO RGD:1605037 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer PMID:24784135|PMID:25741868|PMID:28492532 8706948 Pgap1 post-GPI attachment to proteins inositol deacylase 1 gene DOID:1909 melanoma ISO RGD:1605037 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8706948 Pgap1 post-GPI attachment to proteins inositol deacylase 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1605037 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:24784135|PMID:25741868|PMID:28492532 8706948 Pgap1 post-GPI attachment to proteins inositol deacylase 1 gene DOID:3275 thymoma ISO RGD:1605037 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma PMID:25741868|PMID:28492532 8706948 Pgap1 post-GPI attachment to proteins inositol deacylase 1 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1605037 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma 8706948 Pgap1 post-GPI attachment to proteins inositol deacylase 1 gene DOID:4362 cervical cancer ISO RGD:1605037 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer PMID:24784135|PMID:25741868|PMID:28492532 8706948 Pgap1 post-GPI attachment to proteins inositol deacylase 1 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1605037 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 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:4947 cholangiocarcinoma ISO RGD:1605037 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma PMID:25741868|PMID:28492532 8706948 Pgap1 post-GPI attachment to proteins inositol deacylase 1 gene DOID:5041 esophageal cancer ISO RGD:1605037 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus PMID:25741868|PMID:28492532 8706948 Pgap1 post-GPI attachment to proteins inositol deacylase 1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1605037 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma PMID:25741868|PMID:28492532 8706948 Pgap1 post-GPI attachment to proteins inositol deacylase 1 gene DOID:6171 uterine carcinosarcoma ISO RGD:1605037 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8706948 Pgap1 post-GPI attachment to proteins inositol deacylase 1 gene DOID:630 genetic disease ISO RGD:1605037 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17711852|PMID:25741868|PMID:26050939|PMID:27848944|PMID:28492532|PMID:39655768 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: Severe 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:9005024 Hereditary Adrenocortical Carcinoma ISO RGD:1605037 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary 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:9005603 Muscle Hypotonia ISO RGD:1605037 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hypotonia PMID:25741868 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 20260602 ClinVar ClinVar Annotator: match by term: Mental retardation, autosomal recessive 42 | 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 | ClinVar Annotator: match by term: PGAP1-related condition PMID:17711852|PMID:24784135|PMID:25741868|PMID:25804403|PMID:25823418|PMID:26350515|PMID:28492532 8706948 Pgap1 post-GPI attachment to proteins inositol deacylase 1 gene DOID:9006534 Nervous System Malformations ISO RGD:1605037 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 8706948 Pgap1 post-GPI attachment to proteins inositol deacylase 1 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1605037 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 PMID:24784135|PMID:25741868|PMID:28492532 8706948 Pgap1 post-GPI attachment to proteins inositol deacylase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1605037 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 8706948 Pgap1 post-GPI attachment to proteins inositol deacylase 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1605037 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868|PMID:28492532 8706948 Pgap1 post-GPI attachment to proteins inositol deacylase 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1605037 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:24784135|PMID:25741868|PMID:28492532 8706948 Pgap1 post-GPI attachment to proteins inositol deacylase 1 gene DOID:9993 hypoglycemia ISO RGD:1605037 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hypoglycemia PMID:25741868 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 DISEASE | ClinVar Annotator: match by term: Pyle metaphyseal dysplasia | 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:1115 sarcoma ISO RGD:1350997 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8706978 Sfrp4 secreted frizzled related protein 4 gene DOID:2256 osteochondrodysplasia ISO RGD:1350997 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:25741868|PMID:33193738 8706978 Sfrp4 secreted frizzled related protein 4 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1350997 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 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:5746 ovarian serous cystadenocarcinoma ISO RGD:1350997 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8706978 Sfrp4 secreted frizzled related protein 4 gene DOID:6171 uterine carcinosarcoma ISO RGD:1350997 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8706978 Sfrp4 secreted frizzled related protein 4 gene DOID:630 genetic disease ISO RGD:1350997 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 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:9008214 Genu Valgum ISO RGD:1350997 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Genu valgum PMID:25741868|PMID:33193738 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:0050387 nonpapillary renal cell carcinoma ISO RGD:69119 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma PMID:17873119|PMID:23335809|PMID:26681312|PMID:28492532|PMID:28677221|PMID:35101336|PMID:9259288 8706988 Pten phosphatase and tensin homolog gene DOID:0050489 multinodular goiter ISO RGD:69119 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Multinodular goiter PMID:14711368|PMID:17213812|PMID:23335809|PMID:25263454|PMID:25429968|PMID:25741868|PMID:25875300|PMID:28492532|PMID:29706350|PMID:29785012|PMID:31130284|PMID:33208383|PMID:35101336 8706988 Pten phosphatase and tensin homolog gene DOID:0050567 orofacial cleft ISO RGD:69119 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Orofacial cleft PMID:10866302|PMID:17942903|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24766807|PMID:25741868|PMID:26138366|PMID:27477328|PMID:27993330|PMID:28492532|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:39694930|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:0050581 brachydactyly ISO RGD:69119 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Brachydactyly PMID:25741868 8706988 Pten phosphatase and tensin homolog gene DOID:0050657 Cowden syndrome 1 ISO RGD:69119 D RGD:7240710 20251022 OMIM 8706988 Pten phosphatase and tensin homolog gene DOID:0050657 Cowden syndrome 1 ISO RGD:69119 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Bannayan-Riley-Ruvalcaba syndrome | ClinVar Annotator: match by term: COWDEN SYNDROME 1 | ClinVar Annotator: match by term: Cowden syndrome 1 | ClinVar Annotator: match by term: Hamartomatous polyposis | ClinVar Annotator: match by term: LHERMITTE-DUCLOS DISEASE | ClinVar Annotator: match by term: Lhermitte-Duclos disease | ClinVar Annotator: match by term: PTEN Hamartoma Tumor Syndrome | 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:10698513|PMID:10698713|PMID:10749983|PMID:10772390|PMID:10772829|PMID:10807691|PMID:10848731|PMID:10866302|PMID:10866658|PMID:10920277|PMID:10923032|PMID:10959096|PMID:1097835|PMID:11035045|PMID:11051241|PMID:11052475|PMID:11071384|PMID:11156408|PMID:11238682|PMID:11332402|PMID:11395408|PMID:1147684|PMID:11476841|PMID:11494117|PMID:11685670|PMID:11748304|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:14566704|PMID:14569134|PMID:14675182|PMID:14711368|PMID:15069681|PMID:15120218|PMID:15211648|PMID:15355975|PMID:15372512|PMID:15492994|PMID:15659546|PMID:15805158|PMID:15896465|PMID:15987703|PMID:16007494|PMID:16014636|PMID:16199547|PMID:16287957|PMID:16506206|PMID:16619501|PMID:16704655|PMID:16752378|PMID:16773562|PMID:16829519|PMID:16894538|PMID:16952599|PMID:17088437|PMID:17213812|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17427195|PMID:17444818|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17847000|PMID:17873119|PMID:17873882|PMID:17898811|PMID:17928923|PMID:17942903|PMID:17954274|PMID:18025323|PMID:18080326|PMID:18456716|PMID:18558293|PMID:18594467|PMID:18626099|PMID:18669439|PMID:18757403|PMID:18759867|PMID:18781191|PMID:18781614|PMID:18794875|PMID:18986487|PMID:19190598|PMID:19265751|PMID:19329485|PMID:19340001|PMID:1945792|PMID:19457929|PMID:19458356|PMID:19604110|PMID:19719509|PMID:19763152|PMID:19829307|PMID:19956187|PMID:19968660|PMID:20186503|PMID:20194734|PMID:20223021|PMID:20301661|PMID:20307669|PMID:20533527|PMID:20538496|PMID:20600018|PMID:20685300|PMID:20712882|PMID:20718038|PMID:20848651|PMID:20926450|PMID:20962022|PMID:21103832|PMID:21190448|PMID:21194675|PMID:21291452|PMID:21333374|PMID:21343951|PMID:21406108|PMID:21417916|PMID:21454687|PMID:21536651|PMID:21659347|PMID:21822720|PMID:21828076|PMID:21878536|PMID:21956414|PMID:22005521|PMID:22076652|PMID:22252256|PMID:22261759|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22371648|PMID:22381246|PMID:22382802|PMID:22406018|PMID:22413754|PMID:22469695|PMID:22491738|PMID:22492711|PMID:22503188|PMID:22505997|PMID:22520842|PMID:22536362|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22713753|PMID:22911484|PMID:22962422|PMID:22970944|PMID:23066114|PMID:23117110|PMID:23124040|PMID:23160955|PMID:23161105|PMID:23315997|PMID:2333580|PMID:23335809|PMID:23349303|PMID:23361946|PMID:23399955|PMID:23419777|PMID:23423780|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23633456|PMID:23695273|PMID:23744781|PMID:23764071|PMID:23825907|PMID:23886400|PMID:23888040|PMID:23930209|PMID:23934111|PMID:23934601|PMID:23949151|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24123798|PMID:24136893|PMID:24292679|PMID:24345843|PMID:24375884|PMID:24379037|PMID:24404930|PMID:24436047|PMID:24468202|PMID:24483290|PMID:24498881|PMID:24500884|PMID:24641667|PMID:24647592|PMID:24705250|PMID:24705252|PMID:24705254|PMID:24721394|PMID:24763289|PMID:24766807|PMID:24768297|PMID:24778394|PMID:24809327|PMID:24830819|PMID:24905788|PMID:25157968|PMID:25219808|PMID:25246819|PMID:25263454|PMID:25288137|PMID:25336918|PMID:25363760|PMID:25418537|PMID:25428789|PMID:25429968|PMID:25448478|PMID:25448479|PMID:25448482|PMID:25504433|PMID:25525159|PMID:25527629|PMID:25549896|PMID:25616216|PMID:25637381|PMID:25640679|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25873899|PMID:25875300|PMID:25910213|PMID:25937288|PMID:25946202|PMID:25980754|PMID:26076150|PMID:26082588|PMID:26099045|PMID:26138366|PMID:26246517|PMID:26279303|PMID:26302789|PMID:26350204|PMID:26415504|PMID:26418532|PMID:26467025|PMID:26468640|PMID:26504226|PMID:26517354|PMID:26534844|PMID:26579216|PMID:26612463|PMID:26633542|PMID:26681312|PMID:26773036|PMID:26787237|PMID:26795104 8706988 Pten phosphatase and tensin homolog gene DOID:0050657 Cowden syndrome 1 ISO RGD:69119 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Bannayan-Riley-Ruvalcaba syndrome | ClinVar Annotator: match by term: COWDEN SYNDROME 1 | ClinVar Annotator: match by term: Cowden syndrome 1 | ClinVar Annotator: match by term: Hamartomatous polyposis | ClinVar Annotator: match by term: LHERMITTE-DUCLOS DISEASE | ClinVar Annotator: match by term: Lhermitte-Duclos disease | ClinVar Annotator: match by term: PTEN Hamartoma Tumor Syndrome | ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:26800850|PMID:26845104|PMID:26919320|PMID:27087592|PMID:27147599|PMID:27157322|PMID:27221918|PMID:27226612|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:27993330|PMID:28013114|PMID:28086757|PMID:28152038|PMID:28188106|PMID:28191890|PMID:28195393|PMID:28251007|PMID:28263967|PMID:28286253|PMID:28289760|PMID:28340209|PMID:28475857|PMID:28492532|PMID:28497778|PMID:28513612|PMID:28526761|PMID:28600779|PMID:28620008|PMID:28655553|PMID:28677221|PMID:28724667|PMID:28726821|PMID:28741261|PMID:28755079|PMID:28758351|PMID:28774669|PMID:28792659|PMID:28821194|PMID:28912153|PMID:28966033|PMID:29043291|PMID:29095814|PMID:29108454|PMID:29117568|PMID:29152901|PMID:29263802|PMID:29273943|PMID:29282348|PMID:29296277|PMID:29371908|PMID:29373119|PMID:29496690|PMID:29510612|PMID:29533785|PMID:29594054|PMID:29608813|PMID:29617666|PMID:29625052|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29720545|PMID:29752200|PMID:29763623|PMID:29785012|PMID:29805648|PMID:29806868|PMID:29874181|PMID:29927861|PMID:29931205|PMID:29970488|PMID:29987362|PMID:30039884|PMID:30181857|PMID:30212483|PMID:30212499|PMID:30287823|PMID:30311369|PMID:30311380|PMID:30327747|PMID:30374176|PMID:30482242|PMID:30528446|PMID:30544257|PMID:30614812|PMID:30617281|PMID:30659124|PMID:30680046|PMID:30763456|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:31232187|PMID:31332282|PMID:31336731|PMID:31427284|PMID:31433956|PMID:31594918|PMID:31636093|PMID:31664961|PMID:31674007|PMID:31694722|PMID:31970404|PMID:32003824|PMID:32037394|PMID:32123317|PMID:32150788|PMID:32157856|PMID:32162695|PMID:32190315|PMID:32196895|PMID:32234455|PMID:32249768|PMID:32350270|PMID:32366478|PMID:32442409|PMID:32461083|PMID:32461654|PMID:32471850|PMID:32506314|PMID:32555164|PMID:32610572|PMID:32664367|PMID:32670512|PMID:32832836|PMID:32854451|PMID:32885271|PMID:32959437|PMID:33057194|PMID:33077954|PMID:33083010|PMID:33088792|PMID:33208383|PMID:33471991|PMID:33723755|PMID:33767182|PMID:33801456|PMID:33876391|PMID:33887726|PMID:33911214|PMID:34026625|PMID:34184188|PMID:34268892|PMID:34386506|PMID:34492006|PMID:34625746|PMID:34649609|PMID:34793697|PMID:34906515|PMID:34937768|PMID:34958143|PMID:35101336|PMID:35102303|PMID:35106660|PMID:35172517|PMID:35227301|PMID:35241692|PMID:35264596|PMID:35305867|PMID:35603900|PMID:35640862|PMID:35723418|PMID:35888045|PMID:35931053|PMID:35971940|PMID:35982159|PMID:36066546|PMID:36175890|PMID:36270489|PMID:36413997|PMID:36451132|PMID:36453251|PMID:36619507|PMID:36681873|PMID:36833222|PMID:36959127|PMID:36988593|PMID:37035742|PMID:37093598|PMID:37307869|PMID:37398799|PMID:37527256|PMID:37692099|PMID:37819013|PMID:38311565|PMID:38335860|PMID:38546160|PMID:38645101|PMID:39301391|PMID:39358013|PMID:39434542|PMID:39694930|PMID:39825153|PMID:40282429|PMID:8071972|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9356475|PMID:9399897|PMID:9425889|PMID:9467011|PMID:9536098|PMID:9600246|PMID:9619835|PMID:9685848|PMID:9735393|PMID:9785012|PMID:9811831|PMID:9823298|PMID:9832031|PMID:9832032|PMID:9856571|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:0050657 Cowden syndrome 1 susceptibility ISO RGD:69119 D RGD:9068941 20251023 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: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:0050700 cardiomyopathy ISO RGD:69119 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:10866302|PMID:17526800|PMID:18626099|PMID:18986487|PMID:19265751|PMID:20533527|PMID:21828076|PMID:23335809|PMID:23633456|PMID:24033266|PMID:24721394|PMID:25669429|PMID:25741868|PMID:28475857|PMID:28492532|PMID:28526761|PMID:29706350|PMID:32350270|PMID:35101336|PMID:37307869|PMID:9619835 8706988 Pten phosphatase and tensin homolog gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:69119 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Diffuse large B cell lymphoma PMID:10866302|PMID:17526800|PMID:17526801|PMID:21194675|PMID:21956414|PMID:22628360|PMID:24778394|PMID:25157968|PMID:25219808|PMID:25669429|PMID:25741868|PMID:26467025|PMID:27993330|PMID:28475857|PMID:28492532|PMID:28526761|PMID:28912153|PMID:28966033|PMID:29533785|PMID:29706350|PMID:29763623|PMID:29874181|PMID:35101336|PMID:35931053|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 20260616 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:10866302|PMID:11886535|PMID:17526800|PMID:18626099|PMID:18986487|PMID:19265751|PMID:20533527|PMID:21828076|PMID:23335809|PMID:23633456|PMID:24033266|PMID:24721394|PMID:25669429|PMID:25741868|PMID:28475857|PMID:28492532|PMID:28526761|PMID:29706350|PMID:30763456|PMID:32350270|PMID:35101336|PMID:37307869|PMID:9619835 8706988 Pten phosphatase and tensin homolog gene DOID:0060058 lymphoma ISO RGD:69119 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lymphoma PMID:26845104 8706988 Pten phosphatase and tensin homolog gene DOID:0060163 body dysmorphic disorder ISO RGD:69119 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:25741868 8706988 Pten phosphatase and tensin homolog gene DOID:0060249 scoliosis ISO RGD:69119 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Scoliosis PMID:28526761 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 20251022 OMIM 8706988 Pten phosphatase and tensin homolog gene DOID:0060867 macrocephaly-autism syndrome ISO RGD:69119 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: MACROCEPHALY/AUTISM SYNDROME | ClinVar Annotator: match by term: Macrocephaly-autism syndrome | ClinVar Annotator: match by term: Macrocephaly/autism syndrome PMID:10234502|PMID:10400993|PMID:10468583|PMID:10555148|PMID:10606430|PMID:10698513|PMID:10866302|PMID:10866658|PMID:11035045|PMID:11051241|PMID:11071384|PMID:11156408|PMID:11332402|PMID:11918710|PMID:12085208|PMID:12297295|PMID:12372056|PMID:12844284|PMID:15372512|PMID:15492994|PMID:15805158|PMID:16014636|PMID:16199547|PMID:17088437|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17847000|PMID:17873119|PMID:17873882|PMID:17954274|PMID:18080326|PMID:18498243|PMID:19340001|PMID:19457929|PMID:19458356|PMID:19604110|PMID:19829307|PMID:20600018|PMID:20712882|PMID:20926450|PMID:21194675|PMID:21291452|PMID:21659347|PMID:21798997|PMID:21828076|PMID:21878536|PMID:21956414|PMID:22252256|PMID:22491738|PMID:22492711|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22748663|PMID:22970944|PMID:23160955|PMID:23315997|PMID:23335809|PMID:23349303|PMID:23423780|PMID:23442912|PMID:23555315|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24292679|PMID:24375884|PMID:24468202|PMID:24561254|PMID:24656806|PMID:24763289|PMID:24778394|PMID:24809327|PMID:25157968|PMID:25219808|PMID:25288137|PMID:25326637|PMID:25525159|PMID:25527629|PMID:25637381|PMID:25642631|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26246517|PMID:26467025|PMID:26579216|PMID:26612463|PMID:26633542|PMID:26633545|PMID:26681312|PMID:26773036|PMID:26800850|PMID:27221918|PMID:27405757|PMID:27428751|PMID:27477328|PMID:27531073|PMID:27535533|PMID:27993330|PMID:28086757|PMID:28152038|PMID:28250423|PMID:28251007|PMID:28475857|PMID:28481359|PMID:28492532|PMID:28526761|PMID:28677221|PMID:28724667|PMID:28726821|PMID:28755079|PMID:28912153|PMID:28966033|PMID:29273943|PMID:29371908|PMID:29373119|PMID:29389947|PMID:29533785|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29752200|PMID:29758562|PMID:29763623|PMID:29785012|PMID:29874181|PMID:29927861|PMID:29970488|PMID:30287823|PMID:30311380|PMID:30544257|PMID:30763456|PMID:30872465|PMID:30978501|PMID:31006514|PMID:31144778|PMID:31159747|PMID:31209962|PMID:31332282|PMID:31336731|PMID:32150788|PMID:32350270|PMID:32376656|PMID:32442409|PMID:32885271|PMID:33077954|PMID:33471991|PMID:33681822|PMID:33887726|PMID:34268892|PMID:34793697|PMID:35101336|PMID:35227301|PMID:35640862|PMID:35931053|PMID:36270489|PMID:36453251|PMID:38645101|PMID:39301391|PMID:39434542|PMID:9259288|PMID:9467011|PMID:9536098|PMID:9600246|PMID:9832032 8706988 Pten phosphatase and tensin homolog gene DOID:0060930 developmental dysplasia of the hip ISO RGD:69119 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Developmental dysplasia of the hip PMID:10866302|PMID:17942903|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24766807|PMID:25741868|PMID:26138366|PMID:27477328|PMID:27993330|PMID:28492532|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:39694930|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:0070678 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: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: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:0080684 diffuse midline glioma, H3 K27-altered ISO RGD:69119 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Diffuse midline glioma, H3 K27M-mutant PMID:24705250|PMID:24705252|PMID:24705254|PMID:27993330|PMID:28792659|PMID:28966033|PMID:29706350|PMID:29763623|PMID:32150788|PMID:32555164 8706988 Pten phosphatase and tensin homolog gene DOID:0080708 medulloblastoma non-WNT/non-SHH group 4 ISO RGD:69119 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Medulloblastoma non-WNT/non-SHH group 4 PMID:10866302|PMID:11156408|PMID:19457929|PMID:20926450|PMID:21956414|PMID:24778394|PMID:25288137|PMID:25669429|PMID:25722288|PMID:25741868|PMID:26246517|PMID:27993330|PMID:28492532|PMID:28726821|PMID:29663862|PMID:29706350|PMID:29785012|PMID:29970488|PMID:31006514|PMID:9467011|PMID:9600246 8706988 Pten phosphatase and tensin homolog gene DOID:0080855 Parkinsonism ISO RGD:69119 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Parkinsonian disorder PMID:10866302|PMID:17942903|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24766807|PMID:25741868|PMID:26138366|PMID:27477328|PMID:27993330|PMID:28492532|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:39694930|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:0081000 Cowden syndrome 4 ISO RGD:69119 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cowden syndrome 4 PMID:10555148|PMID:21828076|PMID:26418532|PMID:28492532|PMID:29706350|PMID:37398799 8706988 Pten phosphatase and tensin homolog gene DOID:0081277 diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype ISO RGD:69119 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype PMID:10866302|PMID:17213812|PMID:17526800|PMID:17526801|PMID:21194675|PMID:22628360|PMID:24778394|PMID:25157968|PMID:25219808|PMID:25669429|PMID:25741868|PMID:26467025|PMID:27993330|PMID:28475857|PMID:28492532|PMID:28526761|PMID:28912153|PMID:28966033|PMID:29533785|PMID:29706350|PMID:29763623|PMID:29785012|PMID:29874181|PMID:34649609|PMID:35101336|PMID:35931053 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:0111099 maturity-onset diabetes of the young type 1 ISO RGD:69119 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10866302|PMID:17942903|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24766807|PMID:25741868|PMID:26138366|PMID:27477328|PMID:27993330|PMID:28492532|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:39694930|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:0111766 X-linked VACTERL association ISO RGD:69119 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: VACTERL-H PMID:10866302|PMID:11071384|PMID:12844284|PMID:15492994|PMID:17526800|PMID:17526801|PMID:17847000|PMID:17873119|PMID:21194675|PMID:22628360|PMID:23315997|PMID:24033266|PMID:24055113|PMID:24468202|PMID:24778394|PMID:25157968|PMID:25219808|PMID:25637381|PMID:25669429|PMID:25741868|PMID:25910213|PMID:25980754|PMID:26467025|PMID:26681312|PMID:27535533|PMID:27993330|PMID:28475857|PMID:28492532|PMID:28526761|PMID:28912153|PMID:28966033|PMID:29533785|PMID:29706350|PMID:29763623|PMID:29785012|PMID:29874181|PMID:30311380|PMID:31006514|PMID:32350270|PMID:32885271|PMID:33077954|PMID:33471991|PMID:34793697|PMID:35101336|PMID:35931053|PMID:38645101|PMID:9259288 8706988 Pten phosphatase and tensin homolog gene DOID:10003 sensorineural hearing loss ISO RGD:69119 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:21194675|PMID:21659347|PMID:24375884|PMID:25669429|PMID:25741868|PMID:26633542|PMID:27531073|PMID:28492532|PMID:29273943|PMID:29608813|PMID:29706350|PMID:32350270|PMID:35227301 8706988 Pten phosphatase and tensin homolog gene DOID:10041 dysplastic nevus syndrome ISO RGD:69119 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: B-K MOLE SYNDROME PMID:24033266|PMID:24055113|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26467025|PMID:28492532|PMID:29706350|PMID:29785012|PMID:30311380|PMID:31006514|PMID:32350270|PMID:32885271|PMID:33471991|PMID:34793697|PMID:35931053|PMID:38645101 8706988 Pten phosphatase and tensin homolog gene DOID:10175 optic papillitis ISO RGD:69119 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Optic papillitis PMID:10866302|PMID:11156408|PMID:19457929|PMID:20926450|PMID:21956414|PMID:24778394|PMID:25288137|PMID:25669429|PMID:25722288|PMID:25741868|PMID:26246517|PMID:27993330|PMID:28492532|PMID:28726821|PMID:29663862|PMID:29706350|PMID:29785012|PMID:29970488|PMID:31006514|PMID:9467011|PMID:9600246 8706988 Pten phosphatase and tensin homolog gene DOID:10283 prostate cancer ISO RGD:69119 D RGD:7240710 20251022 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 20260616 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate | ClinVar Annotator: match by term: Prostate cancer PMID:10234502|PMID:10400993|PMID:10555148|PMID:10866302|PMID:11071384|PMID:11156408|PMID:11332402|PMID:12372056|PMID:12844284|PMID:15372512|PMID:15492994|PMID:16014636|PMID:17088437|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17847000|PMID:17873119|PMID:18080326|PMID:19457929|PMID:20926450|PMID:21194675|PMID:21291452|PMID:21659347|PMID:21878536|PMID:21956414|PMID:22492711|PMID:22628360|PMID:22703879|PMID:23315997|PMID:23335809|PMID:23423780|PMID:23442912|PMID:23555315|PMID:24033266|PMID:24055113|PMID:24468202|PMID:24763289|PMID:24778394|PMID:25157968|PMID:25219808|PMID:25288137|PMID:25637381|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25910213|PMID:25980754|PMID:26246517|PMID:26467025|PMID:26681312|PMID:26800850|PMID:27428751|PMID:27477328|PMID:27535533|PMID:27993330|PMID:28152038|PMID:28475857|PMID:28492532|PMID:28526761|PMID:28726821|PMID:28912153|PMID:28966033|PMID:29371908|PMID:29533785|PMID:29663862|PMID:29706350|PMID:29763623|PMID:29785012|PMID:29874181|PMID:29927861|PMID:29970488|PMID:30311380|PMID:31006514|PMID:31144778|PMID:31159747|PMID:31209962|PMID:31336731|PMID:32350270|PMID:32885271|PMID:33077954|PMID:33471991|PMID:34268892|PMID:34793697|PMID:35101336|PMID:35931053|PMID:36453251|PMID:38645101|PMID:9259288|PMID:9467011|PMID:9536098|PMID:9600246 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 20260616 ClinVar ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer PMID:10555148|PMID:10866302|PMID:16199547|PMID:17324556|PMID:17526801|PMID:20194734|PMID:20685300|PMID:21194675|PMID:21828076|PMID:22962422|PMID:25363760|PMID:25647146|PMID:25669429|PMID:27535533|PMID:27824329|PMID:28191890|PMID:28492532|PMID:28677221|PMID:29706350|PMID:31332282|PMID:36988593|PMID:9259288|PMID:9467011|PMID:9832031 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 20260616 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild | ClinVar Annotator: match by term: Mild intellectual disability PMID:10555148|PMID:10866302|PMID:11332402|PMID:12372056|PMID:17526800|PMID:17526801|PMID:17576681|PMID:18080326|PMID:18626099|PMID:18986487|PMID:19265751|PMID:20533527|PMID:21194675|PMID:21291452|PMID:21659347|PMID:21828076|PMID:21956414|PMID:22628360|PMID:22703879|PMID:23335809|PMID:23442912|PMID:23555315|PMID:23633456|PMID:24033266|PMID:24721394|PMID:24763289|PMID:24778394|PMID:25157968|PMID:25219808|PMID:25263454|PMID:25448479|PMID:25669429|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26800850|PMID:27428751|PMID:27477328|PMID:27993330|PMID:28475857|PMID:28492532|PMID:28526761|PMID:28912153|PMID:28966033|PMID:29371908|PMID:29533785|PMID:29706350|PMID:29720545|PMID:29763623|PMID:29874181|PMID:31144778|PMID:31159747|PMID:31209962|PMID:32350270|PMID:33471991|PMID:33911214|PMID:34268892|PMID:35101336|PMID:35305867|PMID:35931053|PMID:37307869|PMID:9536098|PMID:9619835 8706988 Pten phosphatase and tensin homolog gene DOID:10608 celiac disease ISO RGD:69119 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Celiac disease PMID:11886535|PMID:23335809|PMID:28492532|PMID:28526761 8706988 Pten phosphatase and tensin homolog gene DOID:10629 microphthalmia ISO RGD:69119 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Microphthalmia PMID:25741868 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 20260616 ClinVar ClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: Progressive microcephaly 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:10937 impulse control disorder ISO RGD:69119 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Impulse control disorder 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:1094 attention deficit hyperactivity disorder ISO RGD:69119 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Attention deficit hyperactivity disorder PMID:10866302|PMID:11886535|PMID:17526800|PMID:17526801|PMID:17873119|PMID:21194675|PMID:22628360|PMID:23335809|PMID:24778394|PMID:25157968|PMID:25219808|PMID:25669429|PMID:25741868|PMID:26467025|PMID:26681312|PMID:27993330|PMID:28475857|PMID:28492532|PMID:28526761|PMID:28677221|PMID:28912153|PMID:28966033|PMID:29533785|PMID:29706350|PMID:29763623|PMID:29874181|PMID:35101336|PMID:35931053|PMID:9259288 8706988 Pten phosphatase and tensin homolog gene DOID:11054 urinary bladder cancer ISO RGD:69119 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Bladder cancer | ClinVar Annotator: match by term: Malignant tumor of urinary bladder PMID:10866302|PMID:17576681|PMID:20712882|PMID:21194675|PMID:21659347|PMID:21828076|PMID:23335809|PMID:25741868|PMID:27477328|PMID:27535533|PMID:28492532|PMID:29706350|PMID:31079897|PMID:32442409|PMID:35227301|PMID:9256433|PMID:9536098|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:1115 sarcoma ISO RGD:69119 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma PMID:17576681|PMID:28492532|PMID:9536098 8706988 Pten phosphatase and tensin homolog gene DOID:11155 hypohidrosis ISO RGD:69119 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Hypohidrosis PMID:10866302|PMID:17942903|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24766807|PMID:25741868|PMID:26138366|PMID:27477328|PMID:27993330|PMID:28492532|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:39694930|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:11162 respiratory failure ISO RGD:69119 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Respiratory insufficiency PMID:10866302|PMID:17942903|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24766807|PMID:25741868|PMID:26138366|PMID:27477328|PMID:27993330|PMID:28492532|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:39694930|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:11166 Human 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 Human 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:11758 iron deficiency anemia ISO RGD:69119 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Iron deficiency anemia PMID:21194675|PMID:21659347|PMID:24375884|PMID:25669429|PMID:25741868|PMID:26633542|PMID:27531073|PMID:28492532|PMID:29273943|PMID:29608813|PMID:29706350|PMID:32350270|PMID:35227301 8706988 Pten phosphatase and tensin homolog gene DOID:11830 myopia ISO RGD:69119 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Myopia PMID:25741868|PMID:35227301 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:12176 goiter ISO RGD:69119 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Goiter PMID:10866302|PMID:17942903|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24766807|PMID:25741868|PMID:26138366|PMID:27477328|PMID:27993330|PMID:28492532|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:39694930|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:12270 coloboma ISO RGD:69119 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Congenital ocular coloboma PMID:25741868 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: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:12849 autistic disorder ISO RGD:69119 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autism, susceptibility to, X-linked 3 | ClinVar Annotator: match by term: Autistic behavior | ClinVar Annotator: match by term: Autistic disorder of childhood onset PMID:10848731|PMID:10866302|PMID:10923032|PMID:11332402|PMID:11875759|PMID:11918710|PMID:16506206|PMID:16773562|PMID:17286265|PMID:17526800|PMID:17873119|PMID:17873882|PMID:17942903|PMID:18626099|PMID:18986487|PMID:19265751|PMID:19340001|PMID:19457929|PMID:19458356|PMID:20300775|PMID:20301661|PMID:20533527|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21828076|PMID:21956414|PMID:22252256|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22381246|PMID:22491738|PMID:22595938|PMID:23335809|PMID:23399955|PMID:23470840|PMID:23633456|PMID:23764071|PMID:23934601|PMID:24033266|PMID:24345843|PMID:24375884|PMID:24436047|PMID:24721394|PMID:24766807|PMID:25669429|PMID:25741868|PMID:26138366|PMID:26467025|PMID:26504226|PMID:26534844|PMID:26633542|PMID:26681312|PMID:26773036|PMID:26798346|PMID:27477328|PMID:27531073|PMID:27993330|PMID:28195393|PMID:28475857|PMID:28492532|PMID:28526761|PMID:28655553|PMID:28677221|PMID:29273943|PMID:29359449|PMID:29533785|PMID:29594054|PMID:29608813|PMID:29706350|PMID:29785012|PMID:30311380|PMID:30614812|PMID:30617281|PMID:30659124|PMID:32350270|PMID:32442409|PMID:32610572|PMID:33077954|PMID:33083010|PMID:33372952|PMID:34793697|PMID:35101336|PMID:35227301|PMID:35982159|PMID:36270489|PMID:36988593|PMID:37035742|PMID:37307869|PMID:38335860|PMID:38645101|PMID:39694930|PMID:9259288|PMID:9467011|PMID:9619835|PMID:9856571|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:12849 autistic disorder ISO RGD:69119 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior | ClinVar Annotator: match by term: Autistic disorder of childhood onset PMID:10866302|PMID:16506206|PMID:17526800|PMID:17873119|PMID:17873882|PMID:17942903|PMID:18626099|PMID:18986487|PMID:19265751|PMID:19340001|PMID:19457929|PMID:19458356|PMID:20301661|PMID:20533527|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21828076|PMID:22252256|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22491738|PMID:22595938|PMID:23335809|PMID:23399955|PMID:23470840|PMID:23633456|PMID:24033266|PMID:24375884|PMID:24436047|PMID:24721394|PMID:24766807|PMID:25669429|PMID:25741868|PMID:26138366|PMID:26467025|PMID:26504226|PMID:26534844|PMID:26633542|PMID:26681312|PMID:26773036|PMID:27477328|PMID:27531073|PMID:27993330|PMID:28195393|PMID:28475857|PMID:28492532|PMID:28526761|PMID:28677221|PMID:29273943|PMID:29608813|PMID:29706350|PMID:29785012|PMID:30311380|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:34793697|PMID:35101336|PMID:35227301|PMID:35982159|PMID:36270489|PMID:37035742|PMID:37307869|PMID:38335860|PMID:38645101|PMID:39694930|PMID:9259288|PMID:9467011|PMID:9619835|PMID:9915974 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 20260602 ClinVar ClinVar Annotator: match by term: Proteus syndrome | ClinVar Annotator: match by term: Proteus-like syndrome PMID:12471211|PMID:21828076|PMID:22266152|PMID:22595938|PMID:25741868|PMID:26504226|PMID:27535533|PMID:28195393|PMID:28492532|PMID:29706350 8706988 Pten phosphatase and tensin homolog gene DOID:13580 cholestasis ISO RGD:69119 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholestasis PMID:25741868 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:14447 gonadal dysgenesis ISO RGD:69119 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gonadal dysgenesis PMID:25741868 8706988 Pten phosphatase and tensin homolog gene DOID:14566 disease of cellular proliferation ISO RGD:69119 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Neoplasm PMID:10234502|PMID:10400703|PMID:10400993|PMID:10468583|PMID:10555148|PMID:10772829|PMID:10866302|PMID:10923032|PMID:11051241|PMID:11156408|PMID:1147684|PMID:11476841|PMID:11948419|PMID:12938083|PMID:14711368|PMID:16199547|PMID:16619501|PMID:17213812|PMID:17427195|PMID:17526800|PMID:17526801|PMID:17873119|PMID:17942903|PMID:18594467|PMID:18626099|PMID:18781614|PMID:18986487|PMID:19265751|PMID:1945792|PMID:19457929|PMID:20533527|PMID:20600018|PMID:20712882|PMID:20926450|PMID:20962022|PMID:21194675|PMID:21822720|PMID:21828076|PMID:21956414|PMID:22327138|PMID:22595938|PMID:22628360|PMID:22970944|PMID:23161105|PMID:23335809|PMID:23399955|PMID:23470840|PMID:23633456|PMID:24033266|PMID:24123798|PMID:24136893|PMID:24292679|PMID:24721394|PMID:24766807|PMID:24778394|PMID:25003235|PMID:25157968|PMID:25219808|PMID:25263454|PMID:25429968|PMID:25448479|PMID:25527629|PMID:25669429|PMID:25741868|PMID:25875300|PMID:26418532|PMID:26467025|PMID:26681312|PMID:26800850|PMID:27226612|PMID:27514801|PMID:27535533|PMID:27993330|PMID:28475857|PMID:28492532|PMID:28526761|PMID:28677221|PMID:28912153|PMID:28966033|PMID:29108454|PMID:29533785|PMID:29663862|PMID:29706350|PMID:29720545|PMID:29763623|PMID:29785012|PMID:29874181|PMID:29931205|PMID:30311380|PMID:31130284|PMID:31199785|PMID:31336731|PMID:31636093|PMID:32350270|PMID:32366478|PMID:32442409|PMID:32461083|PMID:32461654|PMID:32610572|PMID:33208383|PMID:33471991|PMID:33723755|PMID:33911214|PMID:34386506|PMID:35101336|PMID:35102303|PMID:35227301|PMID:35305867|PMID:35931053|PMID:37307869|PMID:39358013|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9467011|PMID:9619835|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:1459 hypothyroidism ISO RGD:69119 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hypothyroidism PMID:16199547|PMID:19265751|PMID:21194675|PMID:21659347|PMID:24379037|PMID:28492532|PMID:28526761|PMID:9467011 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 20260616 ClinVar 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:1596 depressive disorder ISO RGD:69119 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Depression PMID:10866302|PMID:17942903|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24766807|PMID:25741868|PMID:26138366|PMID:27477328|PMID:27993330|PMID:28492532|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:39694930|PMID:9915974 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 20260519 ClinVar ClinVar Annotator: match by term: Breast cancer | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10866302|PMID:17526801|PMID:17928923|PMID:20712882|PMID:21659347|PMID:22469695|PMID:23399955|PMID:24766807|PMID:25527629|PMID:25669429|PMID:25741868|PMID:26845104|PMID:27405757|PMID:28492532|PMID:29043291|PMID:29152901|PMID:29706350|PMID:29706633|PMID:29785012|PMID:30327747|PMID:35101336|PMID:9140396|PMID:9256433 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: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 20260602 ClinVar ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:10866302|PMID:17167516|PMID:17942903|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:23613428|PMID:24436047|PMID:24766807|PMID:25741868|PMID:26138366|PMID:27477328|PMID:27993330|PMID:28492532|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:39694930|PMID:9467011|PMID:9915974 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 20260519 ClinVar ClinVar Annotator: match by term: MALIGNANT MELANOMA, SOMATIC | ClinVar Annotator: match by term: Melanoma PMID:10866302|PMID:10978354|PMID:11875759|PMID:16773562|PMID:17942903|PMID:19457929|PMID:20300775|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24033266|PMID:24055113|PMID:24436047|PMID:24766807|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26138366|PMID:26467025|PMID:26798346|PMID:27477328|PMID:27993330|PMID:28475857|PMID:28492532|PMID:29359449|PMID:29706350|PMID:29785012|PMID:30311380|PMID:30617281|PMID:31006514|PMID:31653154|PMID:32350270|PMID:32442409|PMID:32885271|PMID:33077954|PMID:33471991|PMID:34793697|PMID:35931053|PMID:38645101|PMID:39694930|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:1909 melanoma ISO RGD:69119 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: MALIGNANT MELANOMA, SOMATIC | ClinVar Annotator: match by term: MELANOMA, MALIGNANT | ClinVar Annotator: match by term: Melanoma PMID:10866302|PMID:10978354|PMID:17942903|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24033266|PMID:24055113|PMID:24436047|PMID:24766807|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26138366|PMID:26467025|PMID:27477328|PMID:27993330|PMID:28492532|PMID:29706350|PMID:29785012|PMID:30311380|PMID:30617281|PMID:31006514|PMID:31653154|PMID:32350270|PMID:32442409|PMID:32885271|PMID:33077954|PMID:33471991|PMID:34793697|PMID:35931053|PMID:38645101|PMID:39694930|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:1924 hypogonadism ISO RGD:69119 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Hypogonadism PMID:10866302|PMID:17942903|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24766807|PMID:25741868|PMID:26138366|PMID:27477328|PMID:27993330|PMID:28492532|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:39694930|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:1969 cerebral palsy ISO RGD:69119 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:10866302|PMID:17942903|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24766807|PMID:25741868|PMID:26138366|PMID:27477328|PMID:27993330|PMID:28492532|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:39694930|PMID:9915974 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:2030 anxiety disorder ISO RGD:69119 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Anxiety PMID:10555148|PMID:10866302|PMID:12372056|PMID:17526800|PMID:17942903|PMID:18626099|PMID:18986487|PMID:19265751|PMID:19457929|PMID:20301661|PMID:20533527|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21828076|PMID:21956414|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:22703879|PMID:23335809|PMID:23399955|PMID:23442912|PMID:23470840|PMID:23555315|PMID:23633456|PMID:24033266|PMID:24436047|PMID:24721394|PMID:24763289|PMID:24766807|PMID:25669429|PMID:25741868|PMID:25980754|PMID:26138366|PMID:26467025|PMID:26800850|PMID:27428751|PMID:27477328|PMID:27993330|PMID:28475857|PMID:28492532|PMID:28526761|PMID:29371908|PMID:29706350|PMID:30617281|PMID:31144778|PMID:31159747|PMID:31209962|PMID:32350270|PMID:32442409|PMID:33077954|PMID:33471991|PMID:34268892|PMID:35101336|PMID:37307869|PMID:39694930|PMID:9619835|PMID:9915974 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:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon cancer | ClinVar Annotator: match by term: colon cancer PMID:10866302|PMID:11875759|PMID:16773562|PMID:17942903|PMID:19457929|PMID:20300775|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24766807|PMID:25741868|PMID:26138366|PMID:26798346|PMID:26845104|PMID:27477328|PMID:27993330|PMID:28475857|PMID:28492532|PMID:29359449|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:39694930|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:219 colon cancer ISO RGD:69119 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Colon cancer | ClinVar Annotator: match by term: colon cancer PMID:10866302|PMID:17942903|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24766807|PMID:25741868|PMID:26138366|PMID:26845104|PMID:27477328|PMID:27993330|PMID:28492532|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:39694930|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:2234 focal epilepsy ISO RGD:69119 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:10555148|PMID:12938083|PMID:15211648|PMID:17324556|PMID:20685300|PMID:21194675|PMID:21828076|PMID:24766807|PMID:25647146|PMID:25741868|PMID:28492532|PMID:29706350|PMID:29785012|PMID:30311380|PMID:31970404 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:69119 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:10866302|PMID:17942903|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24766807|PMID:25741868|PMID:26138366|PMID:27477328|PMID:27993330|PMID:28492532|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:39694930|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:2394 ovarian cancer ISO RGD:69119 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Ovarian cancer PMID:24033266|PMID:24055113|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26467025|PMID:28492532|PMID:29706350|PMID:29785012|PMID:30311380|PMID:31006514|PMID:32350270|PMID:32885271|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:2468 psychotic disorder ISO RGD:69119 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Psychotic disorder PMID:10555148|PMID:10866302|PMID:12372056|PMID:17942903|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21956414|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:22703879|PMID:23399955|PMID:23442912|PMID:23470840|PMID:23555315|PMID:24436047|PMID:24763289|PMID:24766807|PMID:25669429|PMID:25741868|PMID:25980754|PMID:26138366|PMID:26467025|PMID:26800850|PMID:27428751|PMID:27477328|PMID:27993330|PMID:28492532|PMID:29371908|PMID:30617281|PMID:31144778|PMID:31159747|PMID:31209962|PMID:32350270|PMID:32442409|PMID:33077954|PMID:33471991|PMID:34268892|PMID:39694930|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:255 hemangioma ISO RGD:69119 D RGD:8554872 20260616 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:8554872 20260602 ClinVar ClinVar Annotator: match by term: Asthma PMID:10866302|PMID:17942903|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24766807|PMID:25741868|PMID:26138366|PMID:27477328|PMID:27993330|PMID:28492532|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:39694930|PMID:9915974 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 20260602 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:22595938|PMID:23399955|PMID:23470840|PMID:24033266|PMID:24055113|PMID:24292679|PMID:24766807|PMID:24778394|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26418532|PMID:26467025|PMID:26795104|PMID:27535533|PMID:28492532|PMID:28677221|PMID:29152901|PMID:29533785|PMID:29706350|PMID:29785012|PMID:29931205|PMID:30311380|PMID:31006514|PMID:31636093|PMID:32350270|PMID:32885271|PMID:33471991|PMID:33723755|PMID:34386506|PMID:34793697|PMID:35101336|PMID:35931053|PMID:36453251|PMID:38645101|PMID:9259288|PMID:9467011|PMID:9536098|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 20251022 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 20250408 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: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:3070 high grade glioma ISO RGD:69119 D RGD:8554872 20250722 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: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: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: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: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:35101336|PMID:35227301|PMID:35264596|PMID:35931053|PMID:35971940|PMID:35982159|PMID:36959127|PMID:36988593|PMID:38311546|PMID:38645101|PMID:7728760|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 20250729 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:35101336|PMID:35172517|PMID:35227301|PMID:35264596|PMID:35931053|PMID:35971940|PMID:35982159|PMID:36959127|PMID:36988593|PMID:38311546|PMID:38645101|PMID:7728760|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 20260616 ClinVar ClinVar Annotator: match by term: Glioma | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 2 PMID:10234502|PMID:10400993|PMID:10555148|PMID:10866302|PMID:11051241|PMID:11071384|PMID:11156408|PMID:11332402|PMID:11494117|PMID:12085208|PMID:12372056|PMID:12844284|PMID:15120218|PMID:15372512|PMID:15492994|PMID:15805158|PMID:16014636|PMID:16199547|PMID:16752378|PMID:16773562|PMID:17088437|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17847000|PMID:17873119|PMID:17873882|PMID:18080326|PMID:18759867|PMID:19340001|PMID:19457929|PMID:19458356|PMID:19829307|PMID:20538496|PMID:20600018|PMID:20712882|PMID:20926450|PMID:21194675|PMID:21291452|PMID:21659347|PMID:21828076|PMID:21878536|PMID:21956414|PMID:22266152|PMID:22381246|PMID:22491738|PMID:22492711|PMID:22503188|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22970944|PMID:23315997|PMID:23335809|PMID:23349303|PMID:23423780|PMID:23442912|PMID:23470840|PMID:23555315|PMID:23764071|PMID:24033266|PMID:24055113|PMID:24345843|PMID:24375884|PMID:24468202|PMID:24763289|PMID:24766807|PMID:24778394|PMID:24809327|PMID:25157968|PMID:25219808|PMID:25288137|PMID:25429968|PMID:25527629|PMID:25637381|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26246517|PMID:26350204|PMID:26467025|PMID:26504226|PMID:26579216|PMID:26633542|PMID:26681312|PMID:26773036|PMID:26800850|PMID:27221918|PMID:27405757|PMID:27428751|PMID:27477328|PMID:27531073|PMID:27535533|PMID:27993330|PMID:28152038|PMID:28195393|PMID:28235761|PMID:28289760|PMID:28475857|PMID:28492532|PMID:28526761|PMID:28677221|PMID:28724667|PMID:28726821|PMID:28755079|PMID:28873162|PMID:28912153|PMID:28966033|PMID:29273943|PMID:29371908|PMID:29373119|PMID:29533785|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29763623|PMID:29785012|PMID:29874181|PMID:29927861|PMID:29931205|PMID:29970488|PMID:30287823|PMID:30311380|PMID:30374176|PMID:30626916|PMID:31006514|PMID:31079897|PMID:31144778|PMID:31159747|PMID:31209962|PMID:31336731|PMID:32150788|PMID:32157856|PMID:32196895|PMID:32234455|PMID:32350270|PMID:32442409|PMID:32885271|PMID:33077954|PMID:33471991|PMID:33723755|PMID:33876391|PMID:33887726|PMID:34268892|PMID:34308366|PMID:34374989|PMID:34386506|PMID:34793697|PMID:34906515|PMID:35101336|PMID:35227301|PMID:35931053|PMID:35982159|PMID:36453251|PMID:36959127|PMID:38645101|PMID:9256433|PMID:9259288|PMID:9467011|PMID:9536098|PMID:9600246|PMID:9811831 8706988 Pten phosphatase and tensin homolog gene DOID:3144 cutis laxa ISO RGD:69119 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Cutis laxa PMID:10866302|PMID:17942903|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24766807|PMID:25741868|PMID:26138366|PMID:27477328|PMID:27993330|PMID:28492532|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:39694930|PMID:9915974 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:3246 embryonal rhabdomyosarcoma ISO RGD:69119 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma PMID:10866302|PMID:17942903|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24766807|PMID:25741868|PMID:26138366|PMID:27477328|PMID:27993330|PMID:28492532|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:39694930|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:3275 thymoma ISO RGD:69119 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8706988 Pten phosphatase and tensin homolog gene DOID:3312 bipolar disorder ISO RGD:69119 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Bipolar affective disorder PMID:10866302|PMID:17942903|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24766807|PMID:25741868|PMID:26138366|PMID:27477328|PMID:27993330|PMID:28492532|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:39694930|PMID:9915974 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:3347 osteosarcoma ISO RGD:69119 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Osteosarcoma PMID:25512523|PMID:26632267|PMID:27499911|PMID:27993330|PMID:28643781 8706988 Pten phosphatase and tensin homolog gene DOID:3459 breast carcinoma ISO RGD:69119 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Breast carcinoma PMID:10866302|PMID:16773562|PMID:17942903|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24766807|PMID:25741868|PMID:26138366|PMID:27477328|PMID:27993330|PMID:28492532|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:39694930|PMID:9467011|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:3565 meningioma ISO RGD:69119 D RGD:8554872 20250701 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:29785012|PMID:30287823 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 | 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 20260519 ClinVar ClinVar Annotator: match by term: THYROID CARCINOMA, FOLLICULAR PMID:24033266|PMID:24055113|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26467025|PMID:28492532|PMID:29706350|PMID:29785012|PMID:30311380|PMID:31006514|PMID:32350270|PMID:32885271|PMID:33471991|PMID:34793697|PMID:35931053|PMID:38645101 8706988 Pten phosphatase and tensin homolog gene DOID:4001 ovarian carcinoma ISO RGD:69119 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian carcinoma PMID:25741868 8706988 Pten phosphatase and tensin homolog gene DOID:4074 pancreatic adenocarcinoma ISO RGD:69119 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma 8706988 Pten phosphatase and tensin homolog gene DOID:4362 cervical cancer ISO RGD:69119 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Cervical cancer PMID:10866302|PMID:16199547|PMID:17873119|PMID:17942903|PMID:19265751|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23335809|PMID:23399955|PMID:23470840|PMID:24379037|PMID:24436047|PMID:24766807|PMID:25741868|PMID:26138366|PMID:26681312|PMID:27477328|PMID:27993330|PMID:28492532|PMID:28526761|PMID:28677221|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:35101336|PMID:39694930|PMID:9259288|PMID:9467011|PMID:9915974 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:4467 clear cell renal cell carcinoma ISO RGD:69119 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney PMID:16199547|PMID:17576681|PMID:21194675|PMID:23470840|PMID:27477328|PMID:27535533|PMID:28492532|PMID:9467011|PMID:9536098 8706988 Pten phosphatase and tensin homolog gene DOID:4586 familial meningioma ISO RGD:69119 D RGD:7240710 20251022 OMIM 8706988 Pten phosphatase and tensin homolog gene DOID:4586 familial meningioma ISO RGD:69119 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Familial meningioma | ClinVar Annotator: match by term: Meningioma, familial, susceptibility to PMID:10234502|PMID:10400993|PMID:10555148|PMID:10866302|PMID:11051241|PMID:11071384|PMID:11156408|PMID:11332402|PMID:12372056|PMID:12844284|PMID:15372512|PMID:15492994|PMID:16014636|PMID:17088437|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17847000|PMID:17873119|PMID:18080326|PMID:19457929|PMID:20926450|PMID:21194675|PMID:21291452|PMID:21659347|PMID:21878536|PMID:21956414|PMID:22492711|PMID:22628360|PMID:22703879|PMID:22970944|PMID:23315997|PMID:23335809|PMID:23423780|PMID:23442912|PMID:23555315|PMID:24033266|PMID:24055113|PMID:24345843|PMID:24375884|PMID:24468202|PMID:24763289|PMID:24778394|PMID:25157968|PMID:25219808|PMID:25288137|PMID:25637381|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25910213|PMID:25980754|PMID:26246517|PMID:26467025|PMID:26633542|PMID:26681312|PMID:26800850|PMID:27428751|PMID:27477328|PMID:27531073|PMID:27535533|PMID:27993330|PMID:28152038|PMID:28475857|PMID:28492532|PMID:28526761|PMID:28677221|PMID:28724667|PMID:28726821|PMID:28912153|PMID:28966033|PMID:29273943|PMID:29371908|PMID:29533785|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29763623|PMID:29785012|PMID:29874181|PMID:29927861|PMID:29970488|PMID:30311380|PMID:31006514|PMID:31144778|PMID:31159747|PMID:31209962|PMID:31336731|PMID:32196895|PMID:32350270|PMID:32366478|PMID:32885271|PMID:33077954|PMID:33471991|PMID:33876391|PMID:33887726|PMID:34268892|PMID:34793697|PMID:34906515|PMID:35101336|PMID:35227301|PMID:35931053|PMID:36453251|PMID:38645101|PMID:9259288|PMID:9467011|PMID:9536098|PMID:9600246 8706988 Pten phosphatase and tensin homolog gene DOID:480 movement disease ISO RGD:69119 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Movement disorder PMID:10866302|PMID:17942903|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24766807|PMID:25741868|PMID:26138366|PMID:27477328|PMID:27993330|PMID:28492532|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:39694930|PMID:9915974 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 20260602 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:10866302|PMID:17942903|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24766807|PMID:25741868|PMID:26138366|PMID:27477328|PMID:27993330|PMID:28492532|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:39694930|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:69119 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma PMID:24033266|PMID:24055113|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26467025|PMID:28492532|PMID:29706350|PMID:29785012|PMID:30311380|PMID:31006514|PMID:32350270|PMID:32885271|PMID:33471991|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: Breast-ovarian cancer, familial, susceptibility to, 5 | 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:5683 hereditary breast ovarian cancer syndrome ISO RGD:69119 D RGD:8554872 20260519 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 syndrome PMID:25741868|PMID:28492532|PMID:29706350|PMID:29785012|PMID:30287823|PMID:30311380|PMID:30374176|PMID:32566746|PMID:34793697|PMID:38645101 8706988 Pten phosphatase and tensin homolog gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69119 D RGD:8554872 20260602 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 and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532|PMID:29706350|PMID:29785012|PMID:30287823|PMID:30311380|PMID:30374176|PMID:34793697|PMID:38645101 8706988 Pten phosphatase and tensin homolog gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69119 D RGD:8554872 20260616 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 and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome 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:29706350|PMID:29785012|PMID:30287823|PMID:30311380|PMID:30374176|PMID:31144778|PMID:31159747|PMID:31209962|PMID:33471991|PMID:34268892|PMID:34793697|PMID:38645101 8706988 Pten phosphatase and tensin homolog gene DOID:6067 ovarian mucinous neoplasm ISO RGD:69119 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Borderline Ovarian Mucinous Tumor PMID:21720365|PMID:25527629|PMID:25741868|PMID:27993330|PMID:29785012|PMID:29793804|PMID:31477716|PMID:32616873 8706988 Pten phosphatase and tensin homolog gene DOID:630 genetic disease ISO RGD:69119 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 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 20260616 ClinVar ClinVar Annotator: match by term: Cowden Syndrome | ClinVar Annotator: match by term: Cowden disease | ClinVar Annotator: match by term: Cowden syndrome PMID:10468583|PMID:10555148|PMID:10848731|PMID:10866302|PMID:14711368|PMID:17213812|PMID:17526801|PMID:17942903|PMID:19457929|PMID:20301661|PMID:20600018|PMID:20712882|PMID:20962022|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21828076|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22520842|PMID:22595938|PMID:23335809|PMID:23399955|PMID:23470840|PMID:23475934|PMID:23886400|PMID:23917401|PMID:24033266|PMID:24055113|PMID:24436047|PMID:24766807|PMID:24778394|PMID:25263454|PMID:25429968|PMID:25549896|PMID:25637381|PMID:25741868|PMID:25875300|PMID:25980754|PMID:26138366|PMID:26418532|PMID:26467025|PMID:26492180|PMID:26612463|PMID:26845104|PMID:27324988|PMID:27477328|PMID:27993330|PMID:28086757|PMID:28263967|PMID:28492532|PMID:29273943|PMID:29706350|PMID:29752200|PMID:29785012|PMID:30311380|PMID:30374176|PMID:30617281|PMID:30793491|PMID:30978501|PMID:31006514|PMID:31130284|PMID:31220904|PMID:31336731|PMID:31594918|PMID:32123317|PMID:32196895|PMID:32350270|PMID:32351019|PMID:32442409|PMID:32885271|PMID:33077954|PMID:33208383|PMID:33471991|PMID:34625746|PMID:34793697|PMID:35052351|PMID:35101336|PMID:35227301|PMID:35931053|PMID:36543932|PMID:38645101|PMID:39694930|PMID:9467011|PMID:9735393|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:684 hepatocellular carcinoma ISO RGD:69119 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:16014636|PMID:18080326|PMID:21194675|PMID:23470840|PMID:26467025|PMID:28492532|PMID:28677221 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 20260519 ClinVar ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1 PMID:24033266|PMID:24055113|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26467025|PMID:28492532|PMID:29706350|PMID:29785012|PMID:30311380|PMID:31006514|PMID:32350270|PMID:32885271|PMID:33471991|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:7998 hyperthyroidism ISO RGD:69119 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Hyperthyroidism PMID:10866302|PMID:17942903|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24766807|PMID:25741868|PMID:26138366|PMID:27477328|PMID:27993330|PMID:28492532|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:39694930|PMID:9915974 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: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 20260602 ClinVar ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY | ClinVar Annotator: match by term: Malignant melanoma of skin PMID:1097835|PMID:11476841|PMID:16007494|PMID:16773562|PMID:21194675|PMID:21659347|PMID:21956414|PMID:22371648|PMID:24033266|PMID:24055113|PMID:24778394|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26467025|PMID:28492532|PMID:29706350|PMID:29785012|PMID:30311380|PMID:31006514|PMID:32350270|PMID:32885271|PMID:33471991|PMID:34793697|PMID:35931053|PMID:38645101|PMID:9467011 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 20260602 ClinVar ClinVar Annotator: match by term: PROSTATE CANCER, SOMATIC PMID:10468583|PMID:21194675|PMID:25946202|PMID:28492532|PMID:35101336|PMID:9467011 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:9001239 Delayed Puberty ISO RGD:69119 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Delayed puberty PMID:10866302|PMID:17942903|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24766807|PMID:25741868|PMID:26138366|PMID:27477328|PMID:27993330|PMID:28492532|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:39694930|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:9001276 Failure to Thrive ISO RGD:69119 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:10866302|PMID:17942903|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21828076|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24766807|PMID:25741868|PMID:26138366|PMID:26504226|PMID:27477328|PMID:27993330|PMID:28195393|PMID:28492532|PMID:29706350|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:39694930|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:9001510 Funnel Chest ISO RGD:69119 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Pectus excavatum PMID:10866302|PMID:17942903|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24766807|PMID:25741868|PMID:26138366|PMID:27477328|PMID:27993330|PMID:28492532|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:39694930|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:9001900 Arnold-Chiari Malformation ISO RGD:69119 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Chiari type I malformation PMID:25263454|PMID:25448479|PMID:25741868|PMID:28492532|PMID:29720545|PMID:33911214|PMID:35101336|PMID:35305867 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:9002182 Cafe au lait Spots, Multiple ISO RGD:69119 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Cafe au lait spots, multiple PMID:10866302|PMID:17942903|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24766807|PMID:25741868|PMID:26138366|PMID:27477328|PMID:27993330|PMID:28492532|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:39694930|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:9002265 Kidney Neoplasms ISO RGD:69119 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Renal neoplasm PMID:10866302|PMID:17942903|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24766807|PMID:25741868|PMID:26138366|PMID:27477328|PMID:27993330|PMID:28492532|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:39694930|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:9002304 Prostatic Neoplasms ISO RGD:69119 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Prostate neoplasm PMID:10866302|PMID:17942903|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24766807|PMID:25741868|PMID:26138366|PMID:27477328|PMID:27993330|PMID:28492532|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:39694930|PMID:9915974 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:9002453 Cafe-au-Lait Spots ISO RGD:69119 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cafe-au-lait spot PMID:17526800|PMID:17873119|PMID:21194675|PMID:21659347|PMID:23335809|PMID:24766807|PMID:25741868|PMID:26467025|PMID:26681312|PMID:28492532|PMID:28677221|PMID:30311380|PMID:35101336|PMID:37035742|PMID:9259288|PMID:9467011 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 20260616 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms | ClinVar Annotator: match by term: Ovarian neoplasm PMID:10400993|PMID:10866302|PMID:10920277|PMID:16014636|PMID:17576681|PMID:17942903|PMID:19457929|PMID:20301661|PMID:20712882|PMID:21103832|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23117110|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24766807|PMID:24778394|PMID:25669429|PMID:25741868|PMID:26138366|PMID:26795104|PMID:27477328|PMID:27535533|PMID:27993330|PMID:28492532|PMID:28677221|PMID:29152901|PMID:29296277|PMID:29706350|PMID:30528446|PMID:30617281|PMID:31336731|PMID:32350270|PMID:32442409|PMID:33077954|PMID:36453251|PMID:39694930|PMID:9241266|PMID:9536098|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:9002775 Cognitive Dysfunction ISO RGD:69119 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Cognitive impairment PMID:10866302|PMID:17942903|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24766807|PMID:25741868|PMID:26138366|PMID:27477328|PMID:27993330|PMID:28492532|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:39694930|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:9002969 Nevus ISO RGD:69119 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nevus PMID:10866302|PMID:17526800|PMID:18626099|PMID:18986487|PMID:19265751|PMID:20533527|PMID:21828076|PMID:23335809|PMID:23633456|PMID:24033266|PMID:24721394|PMID:25669429|PMID:25741868|PMID:28475857|PMID:28492532|PMID:28526761|PMID:29706350|PMID:32350270|PMID:35101336|PMID:37307869|PMID:9619835 8706988 Pten phosphatase and tensin homolog gene DOID:9003126 Hallucinations ISO RGD:69119 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Hallucinations PMID:10866302|PMID:17942903|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24766807|PMID:25741868|PMID:26138366|PMID:27477328|PMID:27993330|PMID:28492532|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:39694930|PMID:9915974 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:9003700 Tracheobronchomalacia ISO RGD:69119 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Tracheobronchomalacia PMID:21828076|PMID:22266152|PMID:22595938|PMID:25741868|PMID:26504226|PMID:28195393|PMID:28492532|PMID:29706350 8706988 Pten phosphatase and tensin homolog gene DOID:9003760 Myalgia ISO RGD:69119 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Myalgia PMID:21828076|PMID:22266152|PMID:22595938|PMID:25741868|PMID:26504226|PMID:28195393|PMID:28492532|PMID:29706350 8706988 Pten phosphatase and tensin homolog gene DOID:9003816 Macrocephaly ISO RGD:69119 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Macrocephaly | ClinVar Annotator: match by term: Megalencephaly | ClinVar Annotator: match by term: macrocephaly PMID:10555148|PMID:10772390|PMID:10866302|PMID:11156408|PMID:11886535|PMID:12938083|PMID:14711368|PMID:15211648|PMID:15372512|PMID:16199547|PMID:16506206|PMID:17088437|PMID:17213812|PMID:17324556|PMID:17526800|PMID:17526801|PMID:17873119|PMID:17873882|PMID:18626099|PMID:18781614|PMID:18986487|PMID:19265751|PMID:19340001|PMID:19457929|PMID:19458356|PMID:20301661|PMID:20533527|PMID:20685300|PMID:20926450|PMID:21194675|PMID:21659347|PMID:21828076|PMID:21878536|PMID:21956414|PMID:22252256|PMID:22266152|PMID:22491738|PMID:22492711|PMID:22595938|PMID:22628360|PMID:23335809|PMID:23423780|PMID:23633456|PMID:24033266|PMID:24375884|PMID:24379037|PMID:24721394|PMID:24766807|PMID:24778394|PMID:25157968|PMID:25219808|PMID:25263454|PMID:25288137|PMID:25429968|PMID:25448479|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25875300|PMID:26246517|PMID:26467025|PMID:26504226|PMID:26534844|PMID:26633542|PMID:26681312|PMID:26773036|PMID:26845104|PMID:27531073|PMID:27993330|PMID:28152038|PMID:28195393|PMID:28475857|PMID:28492532|PMID:28526761|PMID:28677221|PMID:28726821|PMID:28912153|PMID:28966033|PMID:29108454|PMID:29273943|PMID:29533785|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29720545|PMID:29763623|PMID:29785012|PMID:29874181|PMID:29927861|PMID:29970488|PMID:30311380|PMID:30680046|PMID:31006514|PMID:31130284|PMID:31336731|PMID:31970404|PMID:32350270|PMID:33208383|PMID:33911214|PMID:34793697|PMID:35101336|PMID:35227301|PMID:35305867|PMID:35931053|PMID:35982159|PMID:36270489|PMID:36453251|PMID:36833222|PMID:37035742|PMID:37307869|PMID:38335860|PMID:38645101|PMID:9259288|PMID:9467011|PMID:9600246|PMID:9619835 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:9004062 Hyperhidrosis ISO RGD:69119 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Hyperhidrosis PMID:10866302|PMID:17942903|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24766807|PMID:25741868|PMID:26138366|PMID:27477328|PMID:27993330|PMID:28492532|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:39694930|PMID:9915974 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:9004268 Uterine Neoplasms ISO RGD:69119 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Neoplasm of uterus PMID:10866302|PMID:17942903|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24766807|PMID:25741868|PMID:26138366|PMID:27477328|PMID:27993330|PMID:28492532|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:39694930|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:69119 D RGD:9068941 20260521 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 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:9004538 Hearing Loss ISO RGD:69119 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:25741868 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:9004665 Pectus Carinatum ISO RGD:69119 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Pectus carinatum PMID:10866302|PMID:17942903|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24766807|PMID:25741868|PMID:26138366|PMID:27477328|PMID:27993330|PMID:28492532|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:39694930|PMID:9915974 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 20260519 ClinVar ClinVar Annotator: match by term: Prostate cancer, hereditary, 1 PMID:17942903|PMID:21194675|PMID:21828076|PMID:22832581|PMID:24721394|PMID:25527629|PMID:27993330|PMID:28492532|PMID:28726821|PMID:29533785|PMID:29706350|PMID:29785012|PMID:30886105|PMID:31594918|PMID:32350270|PMID:32610572|PMID:34184188|PMID:35101336|PMID:9467011 8706988 Pten phosphatase and tensin homolog gene DOID:9005077 Joint Instability ISO RGD:69119 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Joint hypermobility PMID:10866302|PMID:17942903|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24766807|PMID:25741868|PMID:26138366|PMID:27477328|PMID:27993330|PMID:28492532|PMID:29706350|PMID:30617281|PMID:30680046|PMID:32350270|PMID:32442409|PMID:33077954|PMID:36833222|PMID:39694930|PMID:9915974 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:69119 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Hepatomegaly PMID:10555148|PMID:12372056|PMID:21194675|PMID:21659347|PMID:21956414|PMID:22703879|PMID:23442912|PMID:23555315|PMID:24375884|PMID:24763289|PMID:25669429|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26633542|PMID:26800850|PMID:27428751|PMID:27477328|PMID:27531073|PMID:28492532|PMID:29273943|PMID:29371908|PMID:29608813|PMID:29706350|PMID:31144778|PMID:31159747|PMID:31209962|PMID:32350270|PMID:33471991|PMID:34268892|PMID:35227301 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:8554872 20260616 ClinVar ClinVar Annotator: match by term: Speech delay PMID:28526761 8706988 Pten phosphatase and tensin homolog gene DOID:9005532 Muscle Weakness ISO RGD:69119 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Muscle weakness PMID:21828076|PMID:22266152|PMID:22595938|PMID:25741868|PMID:26504226|PMID:28195393|PMID:28492532|PMID:29706350 8706988 Pten phosphatase and tensin homolog gene DOID:9005539 Familial Prostate Cancer ISO RGD:69119 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Familial prostate cancer | ClinVar Annotator: match by term: Hereditary Prostate Cancer | ClinVar Annotator: match by term: Hereditary prostate cancer PMID:10234502|PMID:10400993|PMID:10555148|PMID:10866302|PMID:11051241|PMID:11071384|PMID:11156408|PMID:11332402|PMID:12372056|PMID:12844284|PMID:15372512|PMID:15492994|PMID:16014636|PMID:17088437|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17847000|PMID:17873119|PMID:18080326|PMID:19457929|PMID:20600018|PMID:20926450|PMID:21194675|PMID:21291452|PMID:21659347|PMID:21878536|PMID:21956414|PMID:22381246|PMID:22492711|PMID:22628360|PMID:22703879|PMID:22970944|PMID:23066114|PMID:23315997|PMID:23335809|PMID:23423780|PMID:23442912|PMID:23555315|PMID:24033266|PMID:24055113|PMID:24375884|PMID:24468202|PMID:24763289|PMID:24778394|PMID:25157968|PMID:25219808|PMID:25288137|PMID:25637381|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25910213|PMID:25980754|PMID:26246517|PMID:26467025|PMID:26633542|PMID:26681312|PMID:26800850|PMID:27428751|PMID:27477328|PMID:27531073|PMID:27535533|PMID:27993330|PMID:28152038|PMID:28475857|PMID:28492532|PMID:28526761|PMID:28677221|PMID:28724667|PMID:28726821|PMID:28912153|PMID:28966033|PMID:29273943|PMID:29371908|PMID:29533785|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29763623|PMID:29785012|PMID:29874181|PMID:29927861|PMID:29970488|PMID:30311380|PMID:31006514|PMID:31144778|PMID:31159747|PMID:31209962|PMID:31336731|PMID:32162695|PMID:32350270|PMID:32885271|PMID:33077954|PMID:33471991|PMID:34268892|PMID:34793697|PMID:35101336|PMID:35227301|PMID:35241692|PMID:35931053|PMID:36453251|PMID:38645101|PMID:9259288|PMID:9467011|PMID:9536098|PMID:9600246 8706988 Pten phosphatase and tensin homolog gene DOID:9005603 Muscle Hypotonia ISO RGD:69119 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia PMID:10555148|PMID:10866302|PMID:12372056|PMID:17526800|PMID:17942903|PMID:18626099|PMID:18986487|PMID:19265751|PMID:19457929|PMID:20301661|PMID:20533527|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21828076|PMID:21956414|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:22703879|PMID:23335809|PMID:23399955|PMID:23442912|PMID:23470840|PMID:23555315|PMID:23633456|PMID:24033266|PMID:24375884|PMID:24436047|PMID:24721394|PMID:24763289|PMID:24766807|PMID:25669429|PMID:25741868|PMID:25980754|PMID:26138366|PMID:26467025|PMID:26504226|PMID:26633542|PMID:26800850|PMID:27428751|PMID:27477328|PMID:27531073|PMID:27993330|PMID:28195393|PMID:28475857|PMID:28492532|PMID:28526761|PMID:29273943|PMID:29371908|PMID:29608813|PMID:29706350|PMID:30617281|PMID:31144778|PMID:31159747|PMID:31209962|PMID:32350270|PMID:32442409|PMID:33077954|PMID:33471991|PMID:34268892|PMID:35101336|PMID:35227301|PMID:37307869|PMID:39694930|PMID:9619835|PMID:9915974 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 20260519 ClinVar ClinVar Annotator: match by term: THYROID CANCER, NONMEDULLARY, 2 | ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 2 PMID:24033266|PMID:24055113|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26467025|PMID:28492532|PMID:29706350|PMID:29785012|PMID:30311380|PMID:31006514|PMID:32350270|PMID:32885271|PMID:33471991|PMID:34793697|PMID:35931053|PMID:38645101 8706988 Pten phosphatase and tensin homolog gene DOID:9006534 Nervous System Malformations ISO RGD:69119 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:10866302|PMID:12085208|PMID:17873882|PMID:17942903|PMID:19340001|PMID:19457929|PMID:19458356|PMID:19829307|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22491738|PMID:22595938|PMID:23349303|PMID:23399955|PMID:23442912|PMID:23470840|PMID:24436047|PMID:24766807|PMID:24809327|PMID:25741868|PMID:26138366|PMID:26773036|PMID:27221918|PMID:27477328|PMID:27993330|PMID:28492532|PMID:28755079|PMID:29373119|PMID:29785012|PMID:30287823|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:39694930|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:9006617 Fatigue ISO RGD:69119 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Fatigue PMID:21828076|PMID:22266152|PMID:22595938|PMID:25741868|PMID:26504226|PMID:28195393|PMID:28492532|PMID:29706350 8706988 Pten phosphatase and tensin homolog gene DOID:9006743 Spasm ISO RGD:69119 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Muscle spasm PMID:25741868 8706988 Pten phosphatase and tensin homolog gene DOID:9006878 Exercise Intolerance ISO RGD:69119 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Exercise intolerance PMID:21828076|PMID:22266152|PMID:22595938|PMID:25741868|PMID:26504226|PMID:28195393|PMID:28492532|PMID:29706350 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 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 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 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 20250722 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: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:11058880|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:14711368|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: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:20926450|PMID:20940307|PMID:20962022|PMID:21103832|PMID:21138868|PMID:21190448|PMID:21194675|PMID:21291452|PMID:21333374|PMID:21343951|PMID:21417916|PMID:21536651|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:22375056|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:23085752|PMID:23117110|PMID:23124040|PMID:23160955|PMID:23161105|PMID:23315997|PMID:23319441|PMID:23335809|PMID:23349303|PMID:23361946|PMID:23382303|PMID:23399955|PMID:23423780|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23633456|PMID:23695273|PMID:23757202|PMID:23764071|PMID:23860656|PMID:23886400|PMID:23888040|PMID:23930209|PMID:23934111|PMID:23934601|PMID:23949151|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|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 20250722 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:26124082|PMID:26157835|PMID:26166433|PMID:26185318|PMID:26216063|PMID:26246517|PMID:26279303|PMID:26302980|PMID:26350204|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: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:29805648|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:31130284|PMID:31144778|PMID:31149344|PMID:31159747|PMID:31185301|PMID:31209962|PMID:31220904|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: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:33879063|PMID:33887726|PMID:34184188|PMID:34268892|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:35106660|PMID:35227301|PMID:35241692|PMID:35264596|PMID:35278038|PMID:35338148|PMID:35352876|PMID:35399540|PMID:35534676|PMID:35640862|PMID:35723418|PMID:35780606|PMID:35888045|PMID:35931053|PMID:35971940|PMID:35982159|PMID:36175890|PMID:36270489|PMID:36413997|PMID:36451132|PMID:36453251|PMID:36619507|PMID:36681873|PMID:36833222|PMID:36959127|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:39301391|PMID:39825153|PMID:7728760|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:947011|PMID:9536098|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 20250729 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:11058880|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:14711368|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: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:20926450|PMID:20940307|PMID:20962022|PMID:21103832|PMID:21138868|PMID:21190448|PMID:21194675|PMID:21291452|PMID:21333374|PMID:21343951|PMID:21417916|PMID:21536651|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:22375056|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:23085752|PMID:23117110|PMID:23124040|PMID:23160955|PMID:23161105|PMID:23315997|PMID:23319441|PMID:23335809|PMID:23349303|PMID:23361946|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:23949151|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|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 20250729 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:26099045|PMID:26124082|PMID:26157835|PMID:26166433|PMID:26185318|PMID:26216063|PMID:26229595|PMID:26246517|PMID:26279303|PMID:26302980|PMID:26350204|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: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:29805648|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:31130284|PMID:31144778|PMID:31149344|PMID:31159747|PMID:31185301|PMID:31209962|PMID:31220904|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: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:33879063|PMID:33887726|PMID:34184188|PMID:34268892|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:35106660|PMID:35172517|PMID:35227301|PMID:35241692|PMID:35264596|PMID:35278038|PMID:35338148|PMID:35352876|PMID:35399540|PMID:35534676|PMID:35640862|PMID:35723418|PMID:35780606|PMID:35888045|PMID:35931053|PMID:35971940|PMID:35982159|PMID:36175890|PMID:36270489|PMID:36413997|PMID:36451132|PMID:36453251|PMID:36619507|PMID:36681873|PMID:36833222|PMID:36959127|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:39301391|PMID:39825153|PMID:7728760|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:947011|PMID:9536098|PMID:9600246|PMID:9616126|PMID:9619835|PMID:9685848|PMID:9735393|PMID:9740666|PMID:9788441|PMID:9794233 8706988 Pten phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20250729 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: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 20260616 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:10076877|PMID:10232405|PMID:10234502|PMID:10400703|PMID:10400993|PMID:10468583|PMID:10554022|PMID:10555148|PMID:10606430|PMID:10657643|PMID:10666371|PMID:10698513|PMID:10772829|PMID:10807691|PMID:10848731|PMID:10866302|PMID:10866658|PMID:10920277|PMID:1097835|PMID:11035045|PMID:11051241|PMID:11071384|PMID:11156408|PMID:11234884|PMID:11237521|PMID:11238682|PMID:11332402|PMID:11395408|PMID:1147684|PMID:11476841|PMID:11494117|PMID:11668501|PMID:11875759|PMID:11886535|PMID:11906179|PMID:11918710|PMID:11948419|PMID:12085208|PMID:12297295|PMID:12372056|PMID:12414663|PMID:12808147|PMID:12844284|PMID:12938083|PMID:14675182|PMID:14711368|PMID:15069681|PMID:15120218|PMID:15211648|PMID:15372512|PMID:15492994|PMID:15659546|PMID:15805158|PMID:15920539|PMID:15951562|PMID:16007494|PMID:16014636|PMID:16088943|PMID:16199547|PMID:16506206|PMID:16619501|PMID:16704655|PMID:16752378|PMID:16773562|PMID:16829519|PMID:16894538|PMID:17013611|PMID:17088437|PMID:17213812|PMID:17218260|PMID:17218261|PMID:17218262|PMID:17324556|PMID:17392703|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17847000|PMID:17873119|PMID:17873882|PMID:17942903|PMID:17954274|PMID:18080326|PMID:18626099|PMID:18716620|PMID:18759867|PMID:18781191|PMID:18781614|PMID:18794875|PMID:18794879|PMID:18986487|PMID:19000654|PMID:19265751|PMID:19329485|PMID:19340001|PMID:1945792|PMID:19457929|PMID:19458356|PMID:19604110|PMID:19622968|PMID:19719509|PMID:19829307|PMID:19956187|PMID:20100827|PMID:20186503|PMID:20194734|PMID:20223021|PMID:20301661|PMID:20533527|PMID:20538496|PMID:20600018|PMID:20685300|PMID:20712882|PMID:20718038|PMID:20785012|PMID:20926450|PMID:20962022|PMID:21103832|PMID:21138868|PMID:21190448|PMID:21194675|PMID:21291452|PMID:21417916|PMID:21536651|PMID:21659347|PMID:21822720|PMID:21828076|PMID:21869887|PMID:21878536|PMID:21956414|PMID:22261759|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22371648|PMID:22375056|PMID:22381246|PMID:22479427|PMID:22491738|PMID:22492711|PMID:22503188|PMID:22505997|PMID:22520842|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22911484|PMID:22962422|PMID:23066114|PMID:23085752|PMID:23117110|PMID:23160955|PMID:23161105|PMID:23315997|PMID:23319441|PMID:23335809|PMID:23349303|PMID:23382303|PMID:23399955|PMID:23423780|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23633456|PMID:23695273|PMID:23860656|PMID:23886400|PMID:23888040|PMID:23934111|PMID:23934601|PMID:24022303|PMID:24033266|PMID:24055113|PMID:24099866|PMID:24120142|PMID:24123798|PMID:24136893|PMID:24292679|PMID:24345843|PMID:24375884|PMID:24379037|PMID:24436047|PMID:24468202|PMID:24498881|PMID:24500884|PMID:24561254|PMID:24647592|PMID:24656806|PMID:24721394|PMID:24744697|PMID:24763289|PMID:24766807|PMID:24778394|PMID:24809327|PMID:24905788|PMID:25157968|PMID:25219808|PMID:25246819|PMID:25263454|PMID:25288137|PMID:25336918|PMID:25363760|PMID:25429968|PMID:25448481|PMID:25448482|PMID:25495427|PMID:25525159|PMID:25527629|PMID:25549896|PMID:25554686|PMID:25637381|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25851949|PMID:25875300|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26082588|PMID:26138366|PMID:26166433|PMID:26216063|PMID:26246517|PMID:26279303|PMID:26302980|PMID:26350204|PMID:26418532|PMID:26443480|PMID:26450531|PMID:26467025|PMID:26468640|PMID:26504226|PMID:26517354|PMID:26534844|PMID:26579216|PMID:26633542|PMID:26637798|PMID:26681312|PMID:26773036|PMID:26787237|PMID:26795104|PMID:26800850|PMID:26845104|PMID:26848951|PMID:26919320|PMID:27087592|PMID:27147599|PMID:27157322|PMID:27168869|PMID:27221918|PMID:27226612|PMID:27405757|PMID:27428751|PMID:27477328|PMID:27531073|PMID:27535533|PMID:27568332|PMID:27720647|PMID:27824329|PMID:27993330|PMID:28013114|PMID:28086757|PMID:28152038|PMID:28191890|PMID:28195393|PMID:28251007|PMID:28263302|PMID:28263967|PMID:28289760|PMID:28454995|PMID:28475857|PMID:28492532|PMID:28513612|PMID:28526761|PMID:28600779|PMID:28677221|PMID:28724667|PMID:28726821|PMID:28755079|PMID:28758351|PMID:28774669 8706988 Pten phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20260616 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:28912153|PMID:28966033|PMID:29033429|PMID:29043291|PMID:29048666|PMID:29108454|PMID:29152901|PMID:29273943|PMID:29282348|PMID:29296277|PMID:29359340|PMID:29371908|PMID:29373119|PMID:29496690|PMID:29533785|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29735527|PMID:29752200|PMID:29763623|PMID:29785012|PMID:29802247|PMID:29874181|PMID:29927861|PMID:29931205|PMID:29970488|PMID:30039884|PMID:30181857|PMID:30212483|PMID:30287823|PMID:30311380|PMID:30374176|PMID:30528446|PMID:30617281|PMID:30680046|PMID:30861589|PMID:30993208|PMID:31006514|PMID:31079897|PMID:31130284|PMID:31144778|PMID:31149344|PMID:31159747|PMID:31185301|PMID:31209962|PMID:31332282|PMID:31336731|PMID:31433956|PMID:31548229|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:32157856|PMID:32162695|PMID:32190315|PMID:32196895|PMID:32234455|PMID:32350270|PMID:32366478|PMID:32442409|PMID:32461654|PMID:32471850|PMID:32506314|PMID:32610572|PMID:32642724|PMID:32670512|PMID:32832836|PMID:32885271|PMID:32923864|PMID:32959437|PMID:33077954|PMID:33083717|PMID:33152507|PMID:33208383|PMID:33471991|PMID:33532886|PMID:33624935|PMID:33723755|PMID:33767182|PMID:33801456|PMID:33876327|PMID:33876391|PMID:33887726|PMID:34026625|PMID:34063168|PMID:34131647|PMID:34184188|PMID:34185076|PMID:34268892|PMID:34386506|PMID:34492006|PMID:34625746|PMID:34661323|PMID:34793697|PMID:34906515|PMID:34952640|PMID:35101336|PMID:35102303|PMID:35195909|PMID:35227301|PMID:35241692|PMID:35264596|PMID:35352876|PMID:35399540|PMID:35534676|PMID:35640862|PMID:35780606|PMID:35888045|PMID:35931053|PMID:35982159|PMID:36066546|PMID:36270489|PMID:36350923|PMID:36413997|PMID:36453251|PMID:36619507|PMID:36833222|PMID:36959127|PMID:36988593|PMID:37035742|PMID:37307869|PMID:37336910|PMID:37398799|PMID:37596007|PMID:38028594|PMID:38311565|PMID:38335860|PMID:38645101|PMID:39301391|PMID:39358013|PMID:39434542|PMID:39694930|PMID:39825153|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9288766|PMID:9399897|PMID:9425889|PMID:9467011|PMID:9536098|PMID:9600246|PMID:9616126|PMID:9619835|PMID:9685848|PMID:9735393|PMID:9797362|PMID:9811831|PMID:9823298|PMID:9832031|PMID:9832032|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:9007209 Somatic Meningioma ISO RGD:69119 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Meningioma, somatic 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:29785012|PMID:30287823 8706988 Pten phosphatase and tensin homolog gene DOID:9007284 Precocious Puberty ISO RGD:69119 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Precocious puberty PMID:10866302|PMID:17942903|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24766807|PMID:25741868|PMID:26138366|PMID:27477328|PMID:27993330|PMID:28492532|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:39694930|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:9007402 Gliosis ISO RGD:69119 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gliosis PMID:20301661|PMID:25741868|PMID:28492532|PMID:29706350|PMID:30680046|PMID:36833222 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:9007650 Unconsciousness ISO RGD:69119 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Loss of consciousness PMID:25741868 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:9007661 Dwarfism ISO RGD:69119 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Short stature PMID:10866302|PMID:17942903|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24766807|PMID:25741868|PMID:26138366|PMID:27477328|PMID:27993330|PMID:28492532|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:39694930|PMID:9915974 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:9007701 Central Nervous System Neoplasms ISO RGD:69119 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Neoplasm of the central nervous system PMID:10866302|PMID:17942903|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24766807|PMID:25741868|PMID:26138366|PMID:27477328|PMID:27993330|PMID:28492532|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:39694930|PMID:9915974 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:9008023 Memory Disorders ISO RGD:69119 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Memory impairment PMID:10866302|PMID:17942903|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24766807|PMID:25741868|PMID:26138366|PMID:27477328|PMID:27993330|PMID:28492532|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:39694930|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:9008086 Developmental Disabilities ISO RGD:69119 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay PMID:10555148|PMID:10866302|PMID:12372056|PMID:17526800|PMID:17526801|PMID:17873119|PMID:18626099|PMID:18986487|PMID:19265751|PMID:20533527|PMID:21194675|PMID:21659347|PMID:21828076|PMID:21956414|PMID:22628360|PMID:22703879|PMID:23335809|PMID:23442912|PMID:23555315|PMID:23633456|PMID:24033266|PMID:24375884|PMID:24721394|PMID:24763289|PMID:24766807|PMID:24778394|PMID:25157968|PMID:25219808|PMID:25669429|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26633542|PMID:26681312|PMID:26800850|PMID:27428751|PMID:27477328|PMID:27531073|PMID:27993330|PMID:28475857|PMID:28492532|PMID:28526761|PMID:28677221|PMID:28912153|PMID:28966033|PMID:29273943|PMID:29371908|PMID:29533785|PMID:29608813|PMID:29706350|PMID:29763623|PMID:29874181|PMID:30311380|PMID:31144778|PMID:31159747|PMID:31209962|PMID:32350270|PMID:33471991|PMID:34268892|PMID:35101336|PMID:35227301|PMID:35931053|PMID:37035742|PMID:37307869|PMID:9259288|PMID:9467011|PMID:9619835 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 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:24033266|PMID:24055113|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26467025|PMID:28492532|PMID:29706350|PMID:29785012|PMID:30311380|PMID:31006514|PMID:32350270|PMID:32885271|PMID:33471991|PMID:34184188|PMID:34793697|PMID:35931053|PMID:38645101 8706988 Pten phosphatase and tensin homolog gene DOID:9009116 Urinary Bladder Neoplasm ISO RGD:69119 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Bladder neoplasm | ClinVar Annotator: match by term: Urinary Bladder Neoplasms PMID:10866302|PMID:17942903|PMID:19457929|PMID:20301661|PMID:20712882|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21828076|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23335809|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24766807|PMID:25741868|PMID:26138366|PMID:27477328|PMID:27535533|PMID:27993330|PMID:28492532|PMID:29706350|PMID:30617281|PMID:31079897|PMID:32350270|PMID:32442409|PMID:33077954|PMID:35227301|PMID:39694930|PMID:9256433|PMID:9811831|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:9119 acute myeloid leukemia ISO RGD:69119 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8706988 Pten phosphatase and tensin homolog gene DOID:9256 colorectal cancer ISO RGD:69119 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:10866302|PMID:11051241|PMID:15355975|PMID:16199547|PMID:17526801|PMID:21194675|PMID:21473780|PMID:22810696|PMID:25363760|PMID:25741868|PMID:25875300|PMID:26302789|PMID:27824329|PMID:27993330|PMID:28191890|PMID:28492532|PMID:28677221|PMID:29706350|PMID:31332282|PMID:36988593|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:9352 type 2 diabetes mellitus ISO RGD:69119 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10866302|PMID:17942903|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24766807|PMID:25741868|PMID:26138366|PMID:27477328|PMID:27993330|PMID:28492532|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:39694930|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:936 brain disease ISO RGD:69119 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Encephalopathy PMID:10866302|PMID:17942903|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24766807|PMID:25741868|PMID:26138366|PMID:27477328|PMID:27993330|PMID:28492532|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:39694930|PMID:9915974 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:9409 diabetes insipidus ISO RGD:69119 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Diabetes insipidus PMID:10866302|PMID:17942903|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24766807|PMID:25741868|PMID:26138366|PMID:27477328|PMID:27993330|PMID:28492532|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:39694930|PMID:9915974 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:9622 kidney hypertrophy ISO RGD:69119 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Kidney hypertrophy 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:9744 type 1 diabetes mellitus ISO RGD:69119 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Diabetes mellitus type 1 PMID:10866302|PMID:17942903|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24766807|PMID:25741868|PMID:26138366|PMID:27477328|PMID:27993330|PMID:28492532|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:39694930|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:9834 hyperopia ISO RGD:69119 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hypermetropia 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 8706988 Pten phosphatase and tensin homolog gene DOID:9970 obesity ISO RGD:69119 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Obesity PMID:10866302|PMID:17942903|PMID:19457929|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23399955|PMID:23470840|PMID:24436047|PMID:24766807|PMID:25741868|PMID:26138366|PMID:27477328|PMID:27993330|PMID:28492532|PMID:30617281|PMID:32350270|PMID:32442409|PMID:33077954|PMID:39694930|PMID:9915974 8707008 Nfix nuclear factor I X gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:69161 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 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 20260602 ClinVar ClinVar Annotator: match by term: MARSHALL-SMITH SYNDROME | ClinVar Annotator: match by term: Marshall-Smith syndrome | ClinVar Annotator: match by term: NFIX-related condition PMID:17576681|PMID:20673863|PMID:20949508|PMID:24924640|PMID:25118028|PMID:25741868|PMID:26193383|PMID:26200704|PMID:28475857|PMID:28492532|PMID:29142766|PMID:29897170|PMID:31036916|PMID:33767182|PMID:37336770|PMID:9536098 8707008 Nfix nuclear factor I X gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:69161 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8707008 Nfix nuclear factor I X gene DOID:0060163 body dysmorphic disorder ISO RGD:69161 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:25741868 8707008 Nfix nuclear factor I X gene DOID:0060305 megalocornea ISO RGD:69161 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Megalocornea PMID:25741868 8707008 Nfix nuclear factor I X gene DOID:0080833 laryngomalacia ISO RGD:69161 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Congenital laryngomalacia PMID:25741868 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 20260609 ClinVar ClinVar Annotator: match by term: MALAN SYNDROME | ClinVar Annotator: match by term: Malan overgrowth syndrome | ClinVar Annotator: match by term: Sotos syndrome 2 PMID:16199547|PMID:17576681|PMID:20673863|PMID:20949508|PMID:22982744|PMID:24088041|PMID:24375697|PMID:24924640|PMID:25118028|PMID:25590979|PMID:25640679|PMID:25741868|PMID:26193383|PMID:26633545|PMID:26927468|PMID:28333917|PMID:28475857|PMID:28492532|PMID:29142766|PMID:29897170|PMID:31369202|PMID:31751304|PMID:32277047|PMID:33288889|PMID:33767182|PMID:35717370|PMID:36114283|PMID:37336770|PMID:38177409|PMID:9536098 8707008 Nfix nuclear factor I X gene DOID:10534 stomach cancer ISO RGD:69161 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8707008 Nfix nuclear factor I X gene DOID:1059 intellectual disability ISO RGD:69161 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe PMID:20673863|PMID:25741868|PMID:26193383|PMID:26200704|PMID:28475857 8707008 Nfix nuclear factor I X gene DOID:1059 intellectual disability ISO RGD:69161 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:26193383|PMID:28475857 8707008 Nfix nuclear factor I X gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:69161 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Attention deficit hyperactivity disorder PMID:25741868 8707008 Nfix nuclear factor I X gene DOID:1115 sarcoma ISO RGD:69161 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma PMID:25741868 8707008 Nfix nuclear factor I X gene DOID:11383 cryptorchidism ISO RGD:69161 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cryptorchidism 8707008 Nfix nuclear factor I X gene DOID:11782 astigmatism ISO RGD:69161 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Astigmatism 8707008 Nfix nuclear factor I X gene DOID:12716 newborn respiratory distress syndrome ISO RGD:69161 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Neonatal respiratory distress PMID:25741868 8707008 Nfix nuclear factor I X gene DOID:1283 enterocele ISO RGD:69161 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hernia 8707008 Nfix nuclear factor I X gene DOID:12835 quadriplegia ISO RGD:69161 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Spastic tetraplegia PMID:25741868 8707008 Nfix nuclear factor I X gene DOID:1324 lung cancer ISO RGD:69161 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 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:1923 disorder of sexual development ISO RGD:69161 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Ambiguous genitalia PMID:25741868 8707008 Nfix nuclear factor I X gene DOID:2340 craniosynostosis ISO RGD:69161 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: Trigonocephaly PMID:25741868|PMID:28492532|PMID:29897170|PMID:33057194|PMID:33288889|PMID:35717370|PMID:35982159|PMID:35997807 8707008 Nfix nuclear factor I X gene DOID:3907 lung squamous cell carcinoma ISO RGD:69161 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma 8707008 Nfix nuclear factor I X gene DOID:4362 cervical cancer ISO RGD:69161 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer PMID:25741868 8707008 Nfix nuclear factor I X gene DOID:540 strabismus ISO RGD:69161 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Strabismus PMID:25741868 8707008 Nfix nuclear factor I X gene DOID:543 dystonia ISO RGD:69161 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25741868|PMID:26193383|PMID:28475857 8707008 Nfix nuclear factor I X gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:69161 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 8707008 Nfix nuclear factor I X gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:69161 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma PMID:25741868 8707008 Nfix nuclear factor I X gene DOID:630 genetic disease ISO RGD:69161 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20673863|PMID:22301465|PMID:25356970|PMID:25741868|PMID:26193383|PMID:28492532|PMID:29897170|PMID:33767182|PMID:35997807|PMID:8910820 8707008 Nfix nuclear factor I X gene DOID:9003816 Macrocephaly ISO RGD:69161 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Macrocephaly PMID:25741868 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:9004507 Hirsutism ISO RGD:69161 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hirsutism 8707008 Nfix nuclear factor I X gene DOID:9005077 Joint Instability ISO RGD:69161 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Joint hypermobility | ClinVar Annotator: match by term: Joint laxity PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 8707008 Nfix nuclear factor I X gene DOID:9005603 Muscle Hypotonia ISO RGD:69161 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:25741868 8707008 Nfix nuclear factor I X gene DOID:9005616 Micrognathism ISO RGD:69161 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Micrognathia 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 8707008 Nfix nuclear factor I X gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:69161 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8707008 Nfix nuclear factor I X gene DOID:9007284 Precocious Puberty ISO RGD:69161 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Precocious puberty PMID:25741868 8707008 Nfix nuclear factor I X gene DOID:9007428 Muscle Spasticity ISO RGD:69161 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Spasticity PMID:25741868 8707008 Nfix nuclear factor I X gene DOID:9008086 Developmental Disabilities ISO RGD:69161 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 8707008 Nfix nuclear factor I X gene DOID:9008606 Corneal Opacity ISO RGD:69161 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Corneal opacity PMID:25741868 8707008 Nfix nuclear factor I X gene DOID:9008952 Breast Cancer, Familial ISO RGD:69161 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8707008 Nfix nuclear factor I X gene DOID:930 orbital disease ISO RGD:69161 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Proptosis PMID:25741868 8707008 Nfix nuclear factor I X gene DOID:9834 hyperopia ISO RGD:69161 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hypermetropia 8707038 Dyrk2 dual specificity tyrosine phosphorylation regulated kinase 2 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1323814 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8707038 Dyrk2 dual specificity tyrosine phosphorylation regulated kinase 2 gene DOID:1324 lung cancer ISO RGD:1323814 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8707038 Dyrk2 dual specificity tyrosine phosphorylation regulated kinase 2 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1323814 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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 20260602 ClinVar ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:23664117|PMID:24766538|PMID:25149931|PMID:25741868|PMID:28229453|PMID:28492532|PMID:28649518|PMID:29230159|PMID:29443383|PMID:29931299|PMID:31614862|PMID:32381727|PMID:32761602|PMID:33631843|PMID:35726512|PMID:35734427|PMID:35903967|PMID:35918752|PMID:37657630 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:0112197 spondyloepimetaphyseal dysplasia with joint laxity ISO RGD:1319963 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity PMID:23664117|PMID:25741868|PMID:28492532|PMID:29443383|PMID:29931299|PMID:31614862|PMID:32381727|PMID:32761602|PMID:33631843|PMID:35726512|PMID:35734427|PMID:35903967|PMID:35918752 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 20260602 ClinVar ClinVar Annotator: match by term: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1 | 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:24766538|PMID:25741868|PMID:28492532|PMID:29443383|PMID:32761602|PMID:33631843|PMID:35726512 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 20260519 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|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 20260602 ClinVar ClinVar Annotator: match by term: AL-GAZALI SYNDROME | ClinVar Annotator: match by term: Al-Gazali syndrome PMID:23664117|PMID:25741868|PMID:28492532 8707070 Nop14 NOP14 nucleolar protein gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1313732 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8707070 Nop14 NOP14 nucleolar protein gene DOID:10534 stomach cancer ISO RGD:1313732 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8707070 Nop14 NOP14 nucleolar protein gene DOID:1115 sarcoma ISO RGD:1313732 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8707070 Nop14 NOP14 nucleolar protein gene DOID:4362 cervical cancer ISO RGD:1313732 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8707070 Nop14 NOP14 nucleolar protein gene DOID:5041 esophageal cancer ISO RGD:1313732 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8707070 Nop14 NOP14 nucleolar protein gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1313732 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8707070 Nop14 NOP14 nucleolar protein gene DOID:9008952 Breast Cancer, Familial ISO RGD:1313732 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8707099 Znf512 zinc finger protein 512 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1349628 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8707099 Znf512 zinc finger protein 512 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1349628 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8707099 Znf512 zinc finger protein 512 gene DOID:0060058 lymphoma ISO RGD:1349628 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lymphoma 8707099 Znf512 zinc finger protein 512 gene DOID:10534 stomach cancer ISO RGD:1349628 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8707099 Znf512 zinc finger protein 512 gene DOID:1115 sarcoma ISO RGD:1349628 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8707099 Znf512 zinc finger protein 512 gene DOID:1324 lung cancer ISO RGD:1349628 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8707099 Znf512 zinc finger protein 512 gene DOID:4362 cervical cancer ISO RGD:1349628 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8707099 Znf512 zinc finger protein 512 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1349628 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 8707099 Znf512 zinc finger protein 512 gene DOID:4947 cholangiocarcinoma ISO RGD:1349628 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 8707099 Znf512 zinc finger protein 512 gene DOID:5041 esophageal cancer ISO RGD:1349628 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8707099 Znf512 zinc finger protein 512 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1349628 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8707099 Znf512 zinc finger protein 512 gene DOID:684 hepatocellular carcinoma ISO RGD:1349628 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8707099 Znf512 zinc finger protein 512 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1349628 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8707099 Znf512 zinc finger protein 512 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1349628 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8707099 Znf512 zinc finger protein 512 gene DOID:9119 acute myeloid leukemia ISO RGD:1349628 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8707116 Bpifb6 BPI fold containing family B member 6 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1323145 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8707134 Clic4 chloride intracellular channel 4 gene DOID:11054 urinary bladder cancer ISO RGD:737114 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8707134 Clic4 chloride intracellular channel 4 gene DOID:1115 sarcoma ISO RGD:737114 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8707134 Clic4 chloride intracellular channel 4 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:737114 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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:9004083 Familial Pancreatic Carcinoma ISO RGD:737114 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial pancreatic carcinoma 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:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:737114 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 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 8707134 Clic4 chloride intracellular channel 4 gene DOID:9008952 Breast Cancer, Familial ISO RGD:737114 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 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 20260519 ClinVar ClinVar Annotator: match by term: Trichotillomania PMID:25741868 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 20260602 ClinVar ClinVar Annotator: match by term: GILLES DE LA TOURETTE SYNDROME | ClinVar Annotator: match by term: Tourette syndrome PMID:17003809|PMID:19018236|PMID:20301778|PMID:22942103|PMID:23528612|PMID:23835198|PMID:25741868|PMID:27812321 8707162 Thap4 THAP domain containing 4 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1342863 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8707162 Thap4 THAP domain containing 4 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1342863 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8707162 Thap4 THAP domain containing 4 gene DOID:10534 stomach cancer ISO RGD:1342863 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8707162 Thap4 THAP domain containing 4 gene DOID:1324 lung cancer ISO RGD:1342863 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8707162 Thap4 THAP domain containing 4 gene DOID:1909 melanoma ISO RGD:1342863 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8707162 Thap4 THAP domain containing 4 gene DOID:3070 high grade glioma ISO RGD:1342863 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Glioma susceptibility 1 8707162 Thap4 THAP domain containing 4 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1342863 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8707162 Thap4 THAP domain containing 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1342863 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8707178 Slc16a1 solute carrier family 16 member 1 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:737474 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8707178 Slc16a1 solute carrier family 16 member 1 gene DOID:0050758 metabolic acidosis ISO RGD:737474 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Metabolic acidosis 8707178 Slc16a1 solute carrier family 16 member 1 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:737474 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma PMID:25741868 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 20260602 ClinVar ClinVar Annotator: match by term: Exercise-induced hyperinsulinism | ClinVar Annotator: match by term: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7 | ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 7 PMID:25741868|PMID:25741869|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:10534 stomach cancer ISO RGD:737474 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8707178 Slc16a1 solute carrier family 16 member 1 gene DOID:11054 urinary bladder cancer ISO RGD:737474 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder PMID:25741868|PMID:28492532 8707178 Slc16a1 solute carrier family 16 member 1 gene DOID:1324 lung cancer ISO RGD:737474 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 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:4362 cervical cancer ISO RGD:737474 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8707178 Slc16a1 solute carrier family 16 member 1 gene DOID:4947 cholangiocarcinoma ISO RGD:737474 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma PMID:25741868 8707178 Slc16a1 solute carrier family 16 member 1 gene DOID:630 genetic disease ISO RGD:737474 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|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 20260602 ClinVar ClinVar Annotator: match by term: ERYTHROCYTE LACTATE TRANSPORTER DEFECT | ClinVar Annotator: match by term: LACTATE TRANSPORTER DEFECT, MYOPATHY DUE TO PMID:10590411|PMID:25741868|PMID:28492532 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:9003816 Macrocephaly ISO RGD:737474 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Macrocephaly 8707178 Slc16a1 solute carrier family 16 member 1 gene DOID:9006253 Ketosis ISO RGD:737474 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ketonuria 8707178 Slc16a1 solute carrier family 16 member 1 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:737474 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 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 20260519 ClinVar ClinVar Annotator: match by term: MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Monocarboxylate transporter 1 deficiency | ClinVar Annotator: match by term: Monocarboxylate transporter 1 deficiency, autosomal dominant 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 8707178 Slc16a1 solute carrier family 16 member 1 gene DOID:9008385 Vomiting ISO RGD:737474 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Vomiting 8707178 Slc16a1 solute carrier family 16 member 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:737474 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868 8707198 Alcam activated leukocyte cell adhesion molecule gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:733283 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 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:11054 urinary bladder cancer ISO RGD:733283 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8707198 Alcam activated leukocyte cell adhesion molecule gene DOID:1324 lung cancer ISO RGD:733283 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8707198 Alcam activated leukocyte cell adhesion molecule gene DOID:234 colon adenocarcinoma ISO RGD:733283 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8707198 Alcam activated leukocyte cell adhesion molecule gene DOID:2394 ovarian cancer ISO RGD:733283 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian cancer 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:3275 thymoma ISO RGD:733283 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8707198 Alcam activated leukocyte cell adhesion molecule gene DOID:4362 cervical cancer ISO RGD:733283 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8707198 Alcam activated leukocyte cell adhesion molecule gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:733283 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 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 8707198 Alcam activated leukocyte cell adhesion molecule gene DOID:9005539 Familial Prostate Cancer ISO RGD:733283 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial prostate cancer 8707198 Alcam activated leukocyte cell adhesion molecule gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:733283 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8707198 Alcam activated leukocyte cell adhesion molecule gene DOID:9119 acute myeloid leukemia ISO RGD:733283 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8707198 Alcam activated leukocyte cell adhesion molecule gene DOID:9256 colorectal cancer ISO RGD:733283 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colorectal cancer 8707232 Asic5 acid sensing ion channel subunit family member 5 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:736018 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8707232 Asic5 acid sensing ion channel subunit family member 5 gene DOID:3275 thymoma ISO RGD:736018 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 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 8707232 Asic5 acid sensing ion channel subunit family member 5 gene DOID:9008952 Breast Cancer, Familial ISO RGD:736018 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8707244 Gigyf1 GRB10 interacting GYF protein 1 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1320542 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8707244 Gigyf1 GRB10 interacting GYF protein 1 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1320542 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8707244 Gigyf1 GRB10 interacting GYF protein 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1320542 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545|PMID:28191890|PMID:33057194|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:1059 intellectual disability ISO RGD:1320542 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Intellectual disability 8707244 Gigyf1 GRB10 interacting GYF protein 1 gene DOID:11054 urinary bladder cancer ISO RGD:1320542 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8707244 Gigyf1 GRB10 interacting GYF protein 1 gene DOID:12849 autistic disorder ISO RGD:1320542 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior PMID:25741868|PMID:35917186 8707244 Gigyf1 GRB10 interacting GYF protein 1 gene DOID:1826 epilepsy ISO RGD:1320542 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:35917186 8707244 Gigyf1 GRB10 interacting GYF protein 1 gene DOID:3275 thymoma ISO RGD:1320542 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8707244 Gigyf1 GRB10 interacting GYF protein 1 gene DOID:3401 inappropriate ADH syndrome ISO RGD:1320542 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Inappropriate antidiuretic hormone secretion PMID:25741868|PMID:35917186 8707244 Gigyf1 GRB10 interacting GYF protein 1 gene DOID:4362 cervical cancer ISO RGD:1320542 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cancer of cervix | ClinVar Annotator: match by term: Cervical cancer 8707244 Gigyf1 GRB10 interacting GYF protein 1 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1320542 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 8707244 Gigyf1 GRB10 interacting GYF protein 1 gene DOID:4947 cholangiocarcinoma ISO RGD:1320542 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 8707244 Gigyf1 GRB10 interacting GYF protein 1 gene DOID:5041 esophageal cancer ISO RGD:1320542 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8707244 Gigyf1 GRB10 interacting GYF protein 1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1320542 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8707244 Gigyf1 GRB10 interacting GYF protein 1 gene DOID:9004083 Familial Pancreatic Carcinoma ISO RGD:1320542 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial pancreatic carcinoma 8707244 Gigyf1 GRB10 interacting GYF protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320542 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:33057194|PMID:34234147|PMID:34732801|PMID:35917186 8707244 Gigyf1 GRB10 interacting GYF protein 1 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1320542 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial prostate cancer 8707244 Gigyf1 GRB10 interacting GYF protein 1 gene DOID:9006635 Hyponatremia ISO RGD:1320542 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hyponatremia PMID:25741868|PMID:35917186 8707244 Gigyf1 GRB10 interacting GYF protein 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1320542 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:35917186 8707244 Gigyf1 GRB10 interacting GYF protein 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1320542 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8707244 Gigyf1 GRB10 interacting GYF protein 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1320542 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8707244 Gigyf1 GRB10 interacting GYF protein 1 gene DOID:9256 colorectal cancer ISO RGD:1320542 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colorectal cancer 8707244 Gigyf1 GRB10 interacting GYF protein 1 gene DOID:9993 hypoglycemia ISO RGD:1320542 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hypoglycemia PMID:25741868|PMID:35917186 8707316 Apom apolipoprotein M gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1351807 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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:5746 ovarian serous cystadenocarcinoma ISO RGD:1351807 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8707316 Apom apolipoprotein M gene DOID:6171 uterine carcinosarcoma ISO RGD:1351807 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8707316 Apom apolipoprotein M gene DOID:684 hepatocellular carcinoma ISO RGD:1351807 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 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:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1351807 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 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:0050939 uterine corpus endometrial carcinoma ISO RGD:1351231 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8707331 Bcas1 brain enriched myelin associated protein 1 gene DOID:10534 stomach cancer ISO RGD:1351231 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8707331 Bcas1 brain enriched myelin associated protein 1 gene DOID:1115 sarcoma ISO RGD:1351231 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8707331 Bcas1 brain enriched myelin associated protein 1 gene DOID:5041 esophageal cancer ISO RGD:1351231 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8707331 Bcas1 brain enriched myelin associated protein 1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1351231 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 8707331 Bcas1 brain enriched myelin associated protein 1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1351231 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8707331 Bcas1 brain enriched myelin associated protein 1 gene DOID:6171 uterine carcinosarcoma ISO RGD:1351231 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8707331 Bcas1 brain enriched myelin associated protein 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1351231 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 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 8707331 Bcas1 brain enriched myelin associated protein 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1351231 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Familial cancer of breast 8707357 Tmem39a transmembrane protein 39A gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1353039 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8707357 Tmem39a transmembrane protein 39A gene DOID:10534 stomach cancer ISO RGD:1353039 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8707357 Tmem39a transmembrane protein 39A gene DOID:1115 sarcoma ISO RGD:1353039 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8707357 Tmem39a transmembrane protein 39A gene DOID:1324 lung cancer ISO RGD:1353039 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8707357 Tmem39a transmembrane protein 39A gene DOID:1909 melanoma ISO RGD:1353039 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8707357 Tmem39a transmembrane protein 39A gene DOID:4074 pancreatic adenocarcinoma ISO RGD:1353039 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma 8707357 Tmem39a transmembrane protein 39A gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1353039 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8707357 Tmem39a transmembrane protein 39A gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1353039 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8707357 Tmem39a transmembrane protein 39A gene DOID:9008952 Breast Cancer, Familial ISO RGD:1353039 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Breast cancer, familial 8707357 Tmem39a transmembrane protein 39A gene DOID:9119 acute myeloid leukemia ISO RGD:1353039 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8707374 Gss glutathione synthetase gene DOID:0080699 glutathione synthetase deficiency ISO RGD:735330 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: GLUTATHIONE SYNTHETASE DEFICIENCY | 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:17479648|PMID:17576681|PMID:25741868|PMID:25851806|PMID:28492532|PMID:28822442|PMID:30581542|PMID:31198081|PMID:33587123|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 20260519 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:17479648|PMID:17576681|PMID:25741868|PMID:25851806|PMID:28492532|PMID:28822442|PMID:33587123|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 20260602 ClinVar ClinVar Annotator: match by term: ANEMIA, CONGENITAL, NONSPHEROCYTIC HEMOLYTIC, 6 | ClinVar Annotator: match by term: Glutathione synthetase deficiency without 5-oxoprolinuria PMID:10369661|PMID:11167850|PMID:12638941|PMID:15056072|PMID:15717202|PMID:25741868|PMID:25851806|PMID:28492532|PMID:8896573|PMID:9215686 8707374 Gss glutathione synthetase gene DOID:10534 stomach cancer ISO RGD:735330 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 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:11054 urinary bladder cancer ISO RGD:735330 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8707374 Gss glutathione synthetase gene DOID:1909 melanoma ISO RGD:735330 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 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: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:5041 esophageal cancer ISO RGD:735330 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 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:5746 ovarian serous cystadenocarcinoma ISO RGD:735330 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:735330 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8707374 Gss glutathione synthetase gene DOID:9007558 Acute Experimental Pancreatitis ISO RGD:2752 D RGD:9068941 20200609 RGD PMID:17897920|REF_RGD_ID:11353819 8707374 Gss glutathione synthetase gene DOID:9256 colorectal cancer ISO RGD:735330 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colorectal cancer 8707395 Metrn meteorin, glial cell differentiation regulator gene DOID:4947 cholangiocarcinoma ISO RGD:1353878 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 8707395 Metrn meteorin, glial cell differentiation regulator gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1353878 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8707395 Metrn meteorin, glial cell differentiation regulator gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1353878 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8707395 Metrn meteorin, glial cell differentiation regulator gene DOID:9008952 Breast Cancer, Familial ISO RGD:1353878 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8707427 Ep400 E1A binding protein p400 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1312347 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8707427 Ep400 E1A binding protein p400 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1312347 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8707427 Ep400 E1A binding protein p400 gene DOID:0070309 absence epilepsy ISO RGD:1312347 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Generalized non-motor (absence) seizure PMID:25741868|PMID:39708813 8707427 Ep400 E1A binding protein p400 gene DOID:10534 stomach cancer ISO RGD:1312347 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8707427 Ep400 E1A binding protein p400 gene DOID:10907 microcephaly ISO RGD:1312347 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:39708813 8707427 Ep400 E1A binding protein p400 gene DOID:11054 urinary bladder cancer ISO RGD:1312347 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8707427 Ep400 E1A binding protein p400 gene DOID:1115 sarcoma ISO RGD:1312347 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8707427 Ep400 E1A binding protein p400 gene DOID:1324 lung cancer ISO RGD:1312347 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8707427 Ep400 E1A binding protein p400 gene DOID:234 colon adenocarcinoma ISO RGD:1312347 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8707427 Ep400 E1A binding protein p400 gene DOID:3275 thymoma ISO RGD:1312347 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8707427 Ep400 E1A binding protein p400 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1312347 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma 8707427 Ep400 E1A binding protein p400 gene DOID:4362 cervical cancer ISO RGD:1312347 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8707427 Ep400 E1A binding protein p400 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1312347 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 8707427 Ep400 E1A binding protein p400 gene DOID:4947 cholangiocarcinoma ISO RGD:1312347 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 8707427 Ep400 E1A binding protein p400 gene DOID:5041 esophageal cancer ISO RGD:1312347 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8707427 Ep400 E1A binding protein p400 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1312347 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 8707427 Ep400 E1A binding protein p400 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1312347 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8707427 Ep400 E1A binding protein p400 gene DOID:684 hepatocellular carcinoma ISO RGD:1312347 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 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:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1312347 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8707427 Ep400 E1A binding protein p400 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1312347 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8707427 Ep400 E1A binding protein p400 gene DOID:9119 acute myeloid leukemia ISO RGD:1312347 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 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 20260519 ClinVar ClinVar Annotator: match by term: C8 ALPHA-GAMMA DEFICIENCY | ClinVar Annotator: match by term: C8A-related condition | ClinVar Annotator: match by term: C8AG DEFICIENCY | ClinVar Annotator: match by term: Type I complement component 8 deficiency PMID:16199547|PMID:25741868|PMID:28492532|PMID:29148534|PMID:31681265|PMID:35511137|PMID:37771589|PMID:975502|PMID:9759902 8707504 C8a complement C8 alpha chain gene DOID:10534 stomach cancer ISO RGD:1318077 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:25741868|PMID:28492532 8707504 C8a complement C8 alpha chain gene DOID:4947 cholangiocarcinoma ISO RGD:1318077 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 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:684 hepatocellular carcinoma ISO RGD:1318077 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:16199547|PMID:25741868|PMID:28492532|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:9119 acute myeloid leukemia ISO RGD:1318077 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:28492532 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 8707537 Bspry B-box and SPRY domain containing gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1347567 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8707537 Bspry B-box and SPRY domain containing gene DOID:10534 stomach cancer ISO RGD:1347567 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8707537 Bspry B-box and SPRY domain containing gene DOID:3907 lung squamous cell carcinoma ISO RGD:1347567 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma 8707537 Bspry B-box and SPRY domain containing gene DOID:4362 cervical cancer ISO RGD:1347567 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8707537 Bspry B-box and SPRY domain containing gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1347567 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8707549 Timm17b translocase of inner mitochondrial membrane 17B gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1350623 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8707549 Timm17b translocase of inner mitochondrial membrane 17B gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1350623 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8707549 Timm17b translocase of inner mitochondrial membrane 17B gene DOID:684 hepatocellular carcinoma ISO RGD:1350623 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8707549 Timm17b translocase of inner mitochondrial membrane 17B gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1350623 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8707558 Rimoc1 RAB7A interacting MON1-CCZ1 complex subunit 1 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1604481 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8707558 Rimoc1 RAB7A interacting MON1-CCZ1 complex subunit 1 gene DOID:0060058 lymphoma ISO RGD:1604481 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lymphoma 8707558 Rimoc1 RAB7A interacting MON1-CCZ1 complex subunit 1 gene DOID:10534 stomach cancer ISO RGD:1604481 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8707558 Rimoc1 RAB7A interacting MON1-CCZ1 complex subunit 1 gene DOID:11054 urinary bladder cancer ISO RGD:1604481 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8707558 Rimoc1 RAB7A interacting MON1-CCZ1 complex subunit 1 gene DOID:1115 sarcoma ISO RGD:1604481 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8707558 Rimoc1 RAB7A interacting MON1-CCZ1 complex subunit 1 gene DOID:1324 lung cancer ISO RGD:1604481 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8707558 Rimoc1 RAB7A interacting MON1-CCZ1 complex subunit 1 gene DOID:4947 cholangiocarcinoma ISO RGD:1604481 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 8707558 Rimoc1 RAB7A interacting MON1-CCZ1 complex subunit 1 gene DOID:5041 esophageal cancer ISO RGD:1604481 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8707558 Rimoc1 RAB7A interacting MON1-CCZ1 complex subunit 1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1604481 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8707558 Rimoc1 RAB7A interacting MON1-CCZ1 complex subunit 1 gene DOID:6354 chronic lymphocytic leukemia/small lymphocytic lymphoma ISO RGD:1604481 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma 8707558 Rimoc1 RAB7A interacting MON1-CCZ1 complex subunit 1 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1604481 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8707558 Rimoc1 RAB7A interacting MON1-CCZ1 complex subunit 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1604481 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8707558 Rimoc1 RAB7A interacting MON1-CCZ1 complex subunit 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1604481 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8707577 Ddx18 DEAD-box helicase 18 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1348568 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8707577 Ddx18 DEAD-box helicase 18 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1348568 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8707577 Ddx18 DEAD-box helicase 18 gene DOID:1324 lung cancer ISO RGD:1348568 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8707577 Ddx18 DEAD-box helicase 18 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1348568 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma 8707577 Ddx18 DEAD-box helicase 18 gene DOID:4362 cervical cancer ISO RGD:1348568 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8707577 Ddx18 DEAD-box helicase 18 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1348568 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 8707577 Ddx18 DEAD-box helicase 18 gene DOID:4947 cholangiocarcinoma ISO RGD:1348568 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 8707577 Ddx18 DEAD-box helicase 18 gene DOID:5041 esophageal cancer ISO RGD:1348568 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8707577 Ddx18 DEAD-box helicase 18 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1348568 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 8707577 Ddx18 DEAD-box helicase 18 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1348568 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8707577 Ddx18 DEAD-box helicase 18 gene DOID:6039 uveal melanoma ISO RGD:1348568 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uveal melanoma 8707577 Ddx18 DEAD-box helicase 18 gene DOID:684 hepatocellular carcinoma ISO RGD:1348568 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8707577 Ddx18 DEAD-box helicase 18 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1348568 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8707577 Ddx18 DEAD-box helicase 18 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1348568 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8707577 Ddx18 DEAD-box helicase 18 gene DOID:9119 acute myeloid leukemia ISO RGD:1348568 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8707596 Map4k2 mitogen-activated protein kinase kinase kinase kinase 2 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1317839 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8707596 Map4k2 mitogen-activated protein kinase kinase kinase kinase 2 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1317839 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8707596 Map4k2 mitogen-activated protein kinase kinase kinase kinase 2 gene DOID:10534 stomach cancer ISO RGD:1317839 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer 8707596 Map4k2 mitogen-activated protein kinase kinase kinase kinase 2 gene DOID:1324 lung cancer ISO RGD:1317839 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8707596 Map4k2 mitogen-activated protein kinase kinase kinase kinase 2 gene DOID:1909 melanoma ISO RGD:1317839 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8707596 Map4k2 mitogen-activated protein kinase kinase kinase kinase 2 gene DOID:3275 thymoma ISO RGD:1317839 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8707596 Map4k2 mitogen-activated protein kinase kinase kinase kinase 2 gene DOID:4362 cervical cancer ISO RGD:1317839 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8707596 Map4k2 mitogen-activated protein kinase kinase kinase kinase 2 gene DOID:5041 esophageal cancer ISO RGD:1317839 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8707596 Map4k2 mitogen-activated protein kinase kinase kinase kinase 2 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1317839 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8707596 Map4k2 mitogen-activated protein kinase kinase kinase kinase 2 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1317839 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial prostate cancer 8707596 Map4k2 mitogen-activated protein kinase kinase kinase kinase 2 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1317839 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8707596 Map4k2 mitogen-activated protein kinase kinase kinase kinase 2 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1317839 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8707656 Mcrs1 microspherule protein 1 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1323153 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8707656 Mcrs1 microspherule protein 1 gene DOID:10534 stomach cancer ISO RGD:1323153 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8707656 Mcrs1 microspherule protein 1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1323153 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8707656 Mcrs1 microspherule protein 1 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1323153 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8707681 Hdgfl3 HDGF like 3 gene DOID:11054 urinary bladder cancer ISO RGD:1606795 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8707681 Hdgfl3 HDGF like 3 gene DOID:1324 lung cancer ISO RGD:1606795 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8707681 Hdgfl3 HDGF like 3 gene DOID:5041 esophageal cancer ISO RGD:1606795 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8707681 Hdgfl3 HDGF like 3 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1606795 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8707681 Hdgfl3 HDGF like 3 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1606795 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8707694 Kat2b lysine acetyltransferase 2B gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1314209 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8707694 Kat2b lysine acetyltransferase 2B gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1314209 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8707694 Kat2b lysine acetyltransferase 2B gene DOID:1115 sarcoma ISO RGD:1314209 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 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:1909 melanoma ISO RGD:1314209 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8707694 Kat2b lysine acetyltransferase 2B gene DOID:3275 thymoma ISO RGD:1314209 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 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:4074 pancreatic adenocarcinoma ISO RGD:1314209 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma 8707694 Kat2b lysine acetyltransferase 2B gene DOID:4362 cervical cancer ISO RGD:1314209 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8707694 Kat2b lysine acetyltransferase 2B gene DOID:4947 cholangiocarcinoma ISO RGD:1314209 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma PMID:25741868 8707694 Kat2b lysine acetyltransferase 2B gene DOID:5041 esophageal cancer ISO RGD:1314209 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8707694 Kat2b lysine acetyltransferase 2B gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1314209 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8707694 Kat2b lysine acetyltransferase 2B gene DOID:684 hepatocellular carcinoma ISO RGD:1314209 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:25741868 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 8707694 Kat2b lysine acetyltransferase 2B gene DOID:9004083 Familial Pancreatic Carcinoma ISO RGD:1314209 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial pancreatic carcinoma 8707694 Kat2b lysine acetyltransferase 2B gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1314209 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8707694 Kat2b lysine acetyltransferase 2B gene DOID:9008952 Breast Cancer, Familial ISO RGD:1314209 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8707694 Kat2b lysine acetyltransferase 2B gene DOID:9119 acute myeloid leukemia ISO RGD:1314209 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8707726 Rnf175 ring finger protein 175 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1348737 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8707726 Rnf175 ring finger protein 175 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1348737 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8707726 Rnf175 ring finger protein 175 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1348737 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8707726 Rnf175 ring finger protein 175 gene DOID:9119 acute myeloid leukemia ISO RGD:1348737 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8707748 Chd1 chromodomain helicase DNA binding protein 1 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1315610 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8707748 Chd1 chromodomain helicase DNA binding protein 1 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1315610 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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:0070757 Pilarowski-Bjornsson syndrome ISO RGD:1315610 D RGD:7240710 20190315 OMIM 8707748 Chd1 chromodomain helicase DNA binding protein 1 gene DOID:0070757 Pilarowski-Bjornsson syndrome ISO RGD:1315610 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: CHD1-related condition | ClinVar Annotator: match by term: DEVELOPMENTAL DELAY AND SPEECH APRAXIA WITH OR WITHOUT SEIZURES | ClinVar Annotator: match by term: PILAROWSKI-BJORNSSON SYNDROME | ClinVar Annotator: match by term: Pilarowski-Bjornsson syndrome PMID:25418537|PMID:25741868|PMID:28866611|PMID:40385454 8707748 Chd1 chromodomain helicase DNA binding protein 1 gene DOID:0080421 developmental and epileptic encephalopathy 11 ISO RGD:1315610 D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: complex neurodevelopmental disorder PMID:25741868 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:0112202 developmental and epileptic encephalopathy ISO RGD:1315610 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:25741868 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:11054 urinary bladder cancer ISO RGD:1315610 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8707748 Chd1 chromodomain helicase DNA binding protein 1 gene DOID:1115 sarcoma ISO RGD:1315610 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8707748 Chd1 chromodomain helicase DNA binding protein 1 gene DOID:11830 myopia ISO RGD:1315610 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Myopia 8707748 Chd1 chromodomain helicase DNA binding protein 1 gene DOID:12849 autistic disorder ISO RGD:1315610 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:25741868 8707748 Chd1 chromodomain helicase DNA binding protein 1 gene DOID:1324 lung cancer ISO RGD:1315610 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8707748 Chd1 chromodomain helicase DNA binding protein 1 gene DOID:1826 epilepsy ISO RGD:1315610 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Seizure 8707748 Chd1 chromodomain helicase DNA binding protein 1 gene DOID:1909 melanoma ISO RGD:1315610 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8707748 Chd1 chromodomain helicase DNA binding protein 1 gene DOID:234 colon adenocarcinoma ISO RGD:1315610 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8707748 Chd1 chromodomain helicase DNA binding protein 1 gene DOID:3070 high grade glioma ISO RGD:1315610 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Glioma susceptibility 1 8707748 Chd1 chromodomain helicase DNA binding protein 1 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1315610 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma 8707748 Chd1 chromodomain helicase DNA binding protein 1 gene DOID:4362 cervical cancer ISO RGD:1315610 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8707748 Chd1 chromodomain helicase DNA binding protein 1 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1315610 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 8707748 Chd1 chromodomain helicase DNA binding protein 1 gene DOID:5041 esophageal cancer ISO RGD:1315610 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8707748 Chd1 chromodomain helicase DNA binding protein 1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1315610 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 8707748 Chd1 chromodomain helicase DNA binding protein 1 gene DOID:5557 testicular germ cell cancer ISO RGD:1315610 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Germ cell tumor of testis 8707748 Chd1 chromodomain helicase DNA binding protein 1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1315610 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8707748 Chd1 chromodomain helicase DNA binding protein 1 gene DOID:6039 uveal melanoma ISO RGD:1315610 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uveal melanoma 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:9003654 Testicular Germ Cell Tumor ISO RGD:1315610 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Germ cell tumor of testis 8707748 Chd1 chromodomain helicase DNA binding protein 1 gene DOID:9003816 Macrocephaly ISO RGD:1315610 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Macrocephaly PMID:25741868 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:9005024 Hereditary Adrenocortical Carcinoma ISO RGD:1315610 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary 8707748 Chd1 chromodomain helicase DNA binding protein 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:1315610 D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Hypotonia PMID:25741868 8707748 Chd1 chromodomain helicase DNA binding protein 1 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1315610 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 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:9008086 Developmental Disabilities ISO RGD:1315610 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Global developmental delay 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 8707748 Chd1 chromodomain helicase DNA binding protein 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1315610 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8707790 Hax1 HCLS1 associated protein X-1 gene DOID:0050117 disease by infectious agent ISO RGD:1607073 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Recurrent infections PMID:17187068|PMID:25741868 8707790 Hax1 HCLS1 associated protein X-1 gene DOID:0050590 severe congenital neutropenia ISO RGD:1607073 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Severe congenital neutropenia 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 20260602 ClinVar ClinVar Annotator: match by term: KOSTMANN DISEASE | ClinVar Annotator: match by term: Kostmann syndrome | ClinVar Annotator: match by term: NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Severe congenital neutropenia 3, autosomal recessive PMID:16199547|PMID:17187068|PMID:17576681|PMID:18055975|PMID:18330843|PMID:18337561|PMID:18611981|PMID:19036076|PMID:20065084|PMID:20177699|PMID:20220065|PMID:21108402|PMID:21344642|PMID:22102707|PMID:24482108|PMID:25741868|PMID:28102861|PMID:28492532|PMID:31321910|PMID:31980526|PMID:32005694|PMID:32581362|PMID:33381479|PMID:33560082|PMID:34134972|PMID:34826056|PMID:37193639|PMID:37474001|PMID:9536098 8707790 Hax1 HCLS1 associated protein X-1 gene DOID:1324 lung cancer ISO RGD:1607073 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8707790 Hax1 HCLS1 associated protein X-1 gene DOID:1909 melanoma ISO RGD:1607073 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8707790 Hax1 HCLS1 associated protein X-1 gene DOID:2394 ovarian cancer ISO RGD:1607073 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian cancer 8707790 Hax1 HCLS1 associated protein X-1 gene DOID:4362 cervical cancer ISO RGD:1607073 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8707790 Hax1 HCLS1 associated protein X-1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1607073 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8707790 Hax1 HCLS1 associated protein X-1 gene DOID:630 genetic disease ISO RGD:1607073 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17187068|PMID:18337561|PMID:20065084|PMID:20177699|PMID:20220065|PMID:22102707|PMID:24482108|PMID:25741868|PMID:28492532|PMID:32005694|PMID:33381479|PMID:34134972|PMID:34826056|PMID:37474001 8707790 Hax1 HCLS1 associated protein X-1 gene DOID:9001276 Failure to Thrive ISO RGD:1607073 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:17187068|PMID:25741868 8707790 Hax1 HCLS1 associated protein X-1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1607073 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:16199547|PMID:17187068|PMID:25741868|PMID:28492532 8707790 Hax1 HCLS1 associated protein X-1 gene DOID:9119 acute myeloid leukemia ISO RGD:1607073 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:16199547|PMID:17187068|PMID:25741868|PMID:28492532 8707822 Asmt acetylserotonin O-methyltransferase gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1353638 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8707822 Asmt acetylserotonin O-methyltransferase gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1353638 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8707822 Asmt acetylserotonin O-methyltransferase gene DOID:10534 stomach cancer ISO RGD:1353638 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8707822 Asmt acetylserotonin O-methyltransferase gene DOID:1115 sarcoma ISO RGD:1353638 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8707822 Asmt acetylserotonin O-methyltransferase gene DOID:12849 autistic disorder ISO RGD:1353638 D RGD:9068941 20250724 CTD CTD Direct Evidence: marker/mechanism PMID:17505466 8707822 Asmt acetylserotonin O-methyltransferase gene DOID:4362 cervical cancer ISO RGD:1353638 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8707822 Asmt acetylserotonin O-methyltransferase gene DOID:4947 cholangiocarcinoma ISO RGD:1353638 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 8707822 Asmt acetylserotonin O-methyltransferase gene DOID:5041 esophageal cancer ISO RGD:1353638 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8707822 Asmt acetylserotonin O-methyltransferase gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1353638 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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 8707822 Asmt acetylserotonin O-methyltransferase gene DOID:9004083 Familial Pancreatic Carcinoma ISO RGD:1353638 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial pancreatic carcinoma 8707822 Asmt acetylserotonin O-methyltransferase gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1353638 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8707822 Asmt acetylserotonin O-methyltransferase gene DOID:9008952 Breast Cancer, Familial ISO RGD:1353638 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8707836 Slc51a solute carrier family 51 member A gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1604974 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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: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:5746 ovarian serous cystadenocarcinoma ISO RGD:1604974 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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 | ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 6 | ClinVar Annotator: match by term: SLC51A-related disorder 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 8707836 Slc51a solute carrier family 51 member A gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1604974 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 PMID:25741868 8707836 Slc51a solute carrier family 51 member A gene DOID:9008952 Breast Cancer, Familial ISO RGD:1604974 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8707854 Fkbp9 FKBP prolyl isomerase 9 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1354428 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8707854 Fkbp9 FKBP prolyl isomerase 9 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1354428 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8707854 Fkbp9 FKBP prolyl isomerase 9 gene DOID:0060058 lymphoma ISO RGD:1354428 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lymphoma 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:10534 stomach cancer ISO RGD:1354428 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8707854 Fkbp9 FKBP prolyl isomerase 9 gene DOID:11054 urinary bladder cancer ISO RGD:1354428 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8707854 Fkbp9 FKBP prolyl isomerase 9 gene DOID:1324 lung cancer ISO RGD:1354428 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8707854 Fkbp9 FKBP prolyl isomerase 9 gene DOID:234 colon adenocarcinoma ISO RGD:1354428 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8707854 Fkbp9 FKBP prolyl isomerase 9 gene DOID:4362 cervical cancer ISO RGD:1354428 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8707854 Fkbp9 FKBP prolyl isomerase 9 gene DOID:5041 esophageal cancer ISO RGD:1354428 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8707854 Fkbp9 FKBP prolyl isomerase 9 gene DOID:6171 uterine carcinosarcoma ISO RGD:1354428 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8707854 Fkbp9 FKBP prolyl isomerase 9 gene DOID:9004083 Familial Pancreatic Carcinoma ISO RGD:1354428 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial pancreatic carcinoma 8707854 Fkbp9 FKBP prolyl isomerase 9 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1354428 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8707854 Fkbp9 FKBP prolyl isomerase 9 gene DOID:9119 acute myeloid leukemia ISO RGD:1354428 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8707885 Syt16 synaptotagmin 16 gene DOID:1909 melanoma ISO RGD:1346455 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8707885 Syt16 synaptotagmin 16 gene DOID:4947 cholangiocarcinoma ISO RGD:1346455 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 8707896 R3hcc1l R3H domain and coiled-coil containing 1 like gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1317417 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8707896 R3hcc1l R3H domain and coiled-coil containing 1 like gene DOID:1115 sarcoma ISO RGD:1317417 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8707896 R3hcc1l R3H domain and coiled-coil containing 1 like gene DOID:1324 lung cancer ISO RGD:1317417 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8707896 R3hcc1l R3H domain and coiled-coil containing 1 like gene DOID:234 colon adenocarcinoma ISO RGD:1317417 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8707896 R3hcc1l R3H domain and coiled-coil containing 1 like gene DOID:4947 cholangiocarcinoma ISO RGD:1317417 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 8707896 R3hcc1l R3H domain and coiled-coil containing 1 like gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1317417 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 8707896 R3hcc1l R3H domain and coiled-coil containing 1 like gene DOID:5557 testicular germ cell cancer ISO RGD:1317417 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Germ cell tumor of testis 8707896 R3hcc1l R3H domain and coiled-coil containing 1 like gene DOID:6171 uterine carcinosarcoma ISO RGD:1317417 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8707896 R3hcc1l R3H domain and coiled-coil containing 1 like gene DOID:684 hepatocellular carcinoma ISO RGD:1317417 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8707896 R3hcc1l R3H domain and coiled-coil containing 1 like gene DOID:9003654 Testicular Germ Cell Tumor ISO RGD:1317417 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Germ cell tumor of testis 8707896 R3hcc1l R3H domain and coiled-coil containing 1 like gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1317417 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8707931 Med22 mediator complex subunit 22 gene DOID:10534 stomach cancer ISO RGD:1606332 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8707931 Med22 mediator complex subunit 22 gene DOID:11054 urinary bladder cancer ISO RGD:1606332 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8707931 Med22 mediator complex subunit 22 gene DOID:1115 sarcoma ISO RGD:1606332 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8707931 Med22 mediator complex subunit 22 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1606332 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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:2394 ovarian cancer ISO RGD:1606911 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian cancer 8707944 Lingo4 leucine rich repeat and Ig domain containing 4 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1606911 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 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 20260602 ClinVar ClinVar Annotator: match by term: Immunodeficiency 125 8707955 Flt3lg fms related receptor tyrosine kinase 3 ligand gene DOID:10534 stomach cancer ISO RGD:1353824 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 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:1324 lung cancer ISO RGD:1353824 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 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:5746 ovarian serous cystadenocarcinoma ISO RGD:1353824 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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:684 hepatocellular carcinoma ISO RGD:1353824 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 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:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1353824 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 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:11054 urinary bladder cancer ISO RGD:1344349 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 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:5746 ovarian serous cystadenocarcinoma ISO RGD:1344349 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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 20260609 ClinVar ClinVar Annotator: match by term: CASQ1-related condition | ClinVar Annotator: match by term: MYOPATHY, VACUOLAR, WITH CASQ1 AGGREGATES | ClinVar Annotator: match by term: Myopathy, vacuolar, with casq1 aggregates PMID:25116801|PMID:25741868|PMID:26136523|PMID:26416891|PMID:27196359|PMID:28492532|PMID:30258016|PMID:33786938|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:9008952 Breast Cancer, Familial ISO RGD:1344349 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 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:4947 cholangiocarcinoma ISO RGD:1313423 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 8708010 Foxk2 forkhead box K2 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1313423 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8708010 Foxk2 forkhead box K2 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1313423 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8708010 Foxk2 forkhead box K2 gene DOID:9119 acute myeloid leukemia ISO RGD:1313423 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8708022 Parvg parvin gamma gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1322037 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8708022 Parvg parvin gamma gene DOID:10534 stomach cancer ISO RGD:1322037 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8708022 Parvg parvin gamma gene DOID:1324 lung cancer ISO RGD:1322037 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8708022 Parvg parvin gamma gene DOID:1909 melanoma ISO RGD:1322037 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8708022 Parvg parvin gamma gene DOID:4362 cervical cancer ISO RGD:1322037 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8708022 Parvg parvin gamma gene DOID:5041 esophageal cancer ISO RGD:1322037 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8708022 Parvg parvin gamma gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1322037 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8708022 Parvg parvin gamma gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1322037 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8708022 Parvg parvin gamma gene DOID:9119 acute myeloid leukemia ISO RGD:1322037 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 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: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: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: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: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: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:10534 stomach cancer ISO RGD:1323634 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8708063 Paqr6 progestin and adipoQ receptor family member 6 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1323634 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8708063 Paqr6 progestin and adipoQ receptor family member 6 gene DOID:684 hepatocellular carcinoma ISO RGD:1323634 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8708063 Paqr6 progestin and adipoQ receptor family member 6 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1323634 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8708085 Nr5a1 nuclear receptor subfamily 5 group A member 1 gene DOID:0070168 spermatogenic failure 3 ISO RGD:68493 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868|PMID:33296094 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 20260602 ClinVar ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 8 | ClinVar Annotator: match by term: Spermatogenic failure 8 PMID:25741868 8708085 Nr5a1 nuclear receptor subfamily 5 group A member 1 gene DOID:0070188 spermatogenic failure 1 ISO RGD:68493 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: OLIGOCHIASMATIC INFERTILITY | ClinVar Annotator: match by term: Oligosynaptic infertility PMID:10369247|PMID:12907682|PMID:17656604|PMID:17694559|PMID:19246354|PMID:22028768|PMID:22907560|PMID:23543655|PMID:24434652|PMID:25122490|PMID:25741868|PMID:27169744|PMID:27378692|PMID:27490115|PMID:27899157|PMID:28033660|PMID:28492532|PMID:30103258|PMID:30425642|PMID:31513305|PMID:32008008 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 20260602 ClinVar ClinVar Annotator: match by term: ADRENAL INSUFFICIENCY, NR5A1-RELATED | ClinVar Annotator: match by term: Premature ovarian failure 7 PMID:25099250|PMID:25741868|PMID:27378692|PMID:34008892 8708085 Nr5a1 nuclear receptor subfamily 5 group A member 1 gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:68493 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:17656604|PMID:17694559|PMID:22028768|PMID:22907560|PMID:24434652|PMID:25122490|PMID:25741868|PMID:27169744|PMID:27899157|PMID:28492532|PMID:30103258|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 20260602 ClinVar ClinVar Annotator: match by term: 46, XX sex reversal 4 | ClinVar Annotator: match by term: 46,XX sex reversal 4 PMID:22549935|PMID:25741868|PMID:27378692|PMID:27490115|PMID:28033660|PMID:28492532|PMID:30350900|PMID:30425642|PMID:38128121|PMID:38168586|PMID:40645834 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 20260602 ClinVar ClinVar Annotator: match by term: 46,XY SEX REVERSAL 3 | ClinVar Annotator: match by term: 46,XY sex reversal 3 | ClinVar Annotator: match by term: DISORDER OF SEX DEVELOPMENT, 46,XY, NR5A1-RELATED PMID:10369247|PMID:17656604|PMID:17694559|PMID:18414213|PMID:20887963|PMID:21691958|PMID:22028768|PMID:22474171|PMID:22549935|PMID:24434652|PMID:25122490|PMID:25326637|PMID:25741868|PMID:27169744|PMID:27378692|PMID:27490115|PMID:27899157|PMID:28032338|PMID:28033660|PMID:28326187|PMID:28492532|PMID:29095814|PMID:29582157|PMID:29935645|PMID:30103258|PMID:30425642|PMID:31513305|PMID:31745530|PMID:31831369|PMID:32738419|PMID:33202802|PMID:33351340 8708085 Nr5a1 nuclear receptor subfamily 5 group A member 1 gene DOID:0112177 Mayer-Rokitansky-Kuster-Hauser syndrome ISO RGD:68493 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Aplasia of the uterus PMID:17656604|PMID:17694559|PMID:24434652|PMID:25741868|PMID:27899157|PMID:28492532|PMID:30103258 8708085 Nr5a1 nuclear receptor subfamily 5 group A member 1 gene DOID:0112338 spermatogenic failure 57 ISO RGD:68493 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation PMID:25741868 8708085 Nr5a1 nuclear receptor subfamily 5 group A member 1 gene DOID:10534 stomach cancer ISO RGD:68493 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:25741868 8708085 Nr5a1 nuclear receptor subfamily 5 group A member 1 gene DOID:10892 hypospadias ISO RGD:68493 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hypospadias PMID:25741868 8708085 Nr5a1 nuclear receptor subfamily 5 group A member 1 gene DOID:11383 cryptorchidism ISO RGD:68493 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Bilateral cryptorchidism | ClinVar Annotator: match by term: Cryptorchidism PMID:17656604|PMID:17694559|PMID:24434652|PMID:25741868|PMID:27899157|PMID:28492532|PMID:30103258|PMID:33296094 8708085 Nr5a1 nuclear receptor subfamily 5 group A member 1 gene DOID:12336 male infertility ISO RGD:68493 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Male infertility PMID:25741868 8708085 Nr5a1 nuclear receptor subfamily 5 group A member 1 gene DOID:13938 amenorrhea ISO RGD:68493 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:17656604|PMID:17694559|PMID:24434652|PMID:25741868|PMID:27899157|PMID:28492532|PMID:30103258 8708085 Nr5a1 nuclear receptor subfamily 5 group A member 1 gene DOID:14227 azoospermia ISO RGD:68493 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Azoospermia PMID:25741868|PMID:27378692|PMID:27490115|PMID:28033660|PMID:28492532 8708085 Nr5a1 nuclear receptor subfamily 5 group A member 1 gene DOID:14447 gonadal dysgenesis ISO RGD:68493 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gonadal dysgenesis PMID:25741868|PMID:33296094 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:1909 melanoma ISO RGD:68493 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8708085 Nr5a1 nuclear receptor subfamily 5 group A member 1 gene DOID:1923 disorder of sexual development ISO RGD:68493 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ambiguous genitalia | ClinVar Annotator: match by term: Disorder of sexual differentiation PMID:25741868|PMID:28492532|PMID:30425642|PMID:31513305|PMID:31852928|PMID:35432193|PMID:35935368 8708085 Nr5a1 nuclear receptor subfamily 5 group A member 1 gene DOID:1924 hypogonadism ISO RGD:68493 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hypergonadotropic hypogonadism PMID:25741868|PMID:28492532 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:4362 cervical cancer ISO RGD:68493 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer PMID:25741868 8708085 Nr5a1 nuclear receptor subfamily 5 group A member 1 gene DOID:5003 eunuchism ISO RGD:68493 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Male hypogonadism PMID:25741868|PMID:27378692|PMID:27490115|PMID:28033660|PMID:28492532 8708085 Nr5a1 nuclear receptor subfamily 5 group A member 1 gene DOID:5041 esophageal cancer ISO RGD:68493 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 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-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:5683 hereditary breast ovarian cancer syndrome ISO RGD:68493 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:17656604|PMID:17694559|PMID:22028768|PMID:22907560|PMID:24434652|PMID:25122490|PMID:25741868|PMID:27169744|PMID:27899157|PMID:28492532|PMID:30103258|PMID:30425642 8708085 Nr5a1 nuclear receptor subfamily 5 group A member 1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:68493 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8708085 Nr5a1 nuclear receptor subfamily 5 group A member 1 gene DOID:630 genetic disease ISO RGD:68493 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8708085 Nr5a1 nuclear receptor subfamily 5 group A member 1 gene DOID:9001239 Delayed Puberty ISO RGD:68493 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Delayed puberty PMID:25741868 8708085 Nr5a1 nuclear receptor subfamily 5 group A member 1 gene DOID:9001878 Disorders of Environmental Origin ISO RGD:68350 D RGD:9068941 20250717 RGD associated with BBOP exposure; mRNA, protein:decreased expression:adrenal cortex PMID:35762508|REF_RGD_ID:617212669 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:9003133 Hypertelorism ISO RGD:68493 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:25741868 8708085 Nr5a1 nuclear receptor subfamily 5 group A member 1 gene DOID:9003503 Penis Agenesis ISO RGD:68493 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Micropenis PMID:25741868|PMID:28492532|PMID:30425642|PMID:31513305 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 20260602 ClinVar ClinVar Annotator: match by term: 46,XY disorder of sex development | ClinVar Annotator: match by term: DISORDER OF SEX DEVELOPMENT, 46,XY PMID:10369247|PMID:11038323|PMID:12907682|PMID:16199547|PMID:17200175|PMID:17576681|PMID:17656604|PMID:17694559|PMID:17940071|PMID:19246354|PMID:19269353|PMID:19439508|PMID:20887963|PMID:22028768|PMID:22474171|PMID:22907560|PMID:23543655|PMID:23729601|PMID:24434652|PMID:25122490|PMID:25741868|PMID:25989977|PMID:26139438|PMID:26260161|PMID:27169744|PMID:27378692|PMID:27490115|PMID:27899157|PMID:28032338|PMID:28033660|PMID:28130116|PMID:28326187|PMID:28492532|PMID:28938747|PMID:29027299|PMID:29190620|PMID:29582157|PMID:29935645|PMID:30067310|PMID:30103258|PMID:30406445|PMID:30425642|PMID:31513305|PMID:32008008|PMID:32655042|PMID:32738419|PMID:32985417|PMID:33351340|PMID:34095689|PMID:34461970|PMID:34803902|PMID:36745277|PMID:38168586|PMID:9536098 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 8708085 Nr5a1 nuclear receptor subfamily 5 group A member 1 gene DOID:9970 obesity ISO RGD:68493 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Obesity PMID:25741868|PMID:27378692|PMID:27490115|PMID:28033660|PMID:28492532 8708100 Aldh3a2 aldehyde dehydrogenase 3 family member A2 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:737085 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma PMID:25741868 8708100 Aldh3a2 aldehyde dehydrogenase 3 family member A2 gene DOID:0050486 exanthem ISO RGD:737085 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Skin rash PMID:10577908|PMID:10854114|PMID:25741868|PMID:28492532 8708100 Aldh3a2 aldehyde dehydrogenase 3 family member A2 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:737085 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma PMID:25741868 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:10534 stomach cancer ISO RGD:737085 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:25741868 8708100 Aldh3a2 aldehyde dehydrogenase 3 family member A2 gene DOID:1115 sarcoma ISO RGD:737085 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma PMID:25741868 8708100 Aldh3a2 aldehyde dehydrogenase 3 family member A2 gene DOID:1324 lung cancer ISO RGD:737085 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 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 20260609 ClinVar ClinVar Annotator: match by term: ALDH3A2-related condition | ClinVar Annotator: match by term: FALDH DEFICIENCY | ClinVar Annotator: match by term: SJOGREN-LARSSON SYNDROME | ClinVar Annotator: match by term: Sjogren-Larsson syndrome | ClinVar Annotator: match by term: Sjögren-Larsson syndrome PMID:10384396|PMID:10577908|PMID:10792573|PMID:10854114|PMID:11408337|PMID:15241804|PMID:15931689|PMID:16199547|PMID:16476818|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:21713441|PMID:21872273|PMID:21968182|PMID:22397046|PMID:23034980|PMID:23450279|PMID:24033266|PMID:24101836|PMID:25047030|PMID:25532748|PMID:25741868|PMID:25855245|PMID:27717089|PMID:28025403|PMID:28257279|PMID:28471629|PMID:28492532|PMID:29071827|PMID:29159939|PMID:29183715|PMID:29375833|PMID:29704247|PMID:30157790|PMID:30372562|PMID:30925032|PMID:31273323|PMID:31475473|PMID:31642606|PMID:31953843|PMID:32005694|PMID:32180488|PMID:32395410|PMID:32506993|PMID:34082469|PMID:35973883|PMID:9204959|PMID:9250352|PMID:9254849|PMID:9441870|PMID:9467812|PMID:9536098|PMID:9829906 8708100 Aldh3a2 aldehyde dehydrogenase 3 family member A2 gene DOID:1826 epilepsy ISO RGD:737085 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Seizure PMID:10577908|PMID:10854114|PMID:25741868|PMID:28492532 8708100 Aldh3a2 aldehyde dehydrogenase 3 family member A2 gene DOID:4074 pancreatic adenocarcinoma ISO RGD:737085 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma 8708100 Aldh3a2 aldehyde dehydrogenase 3 family member A2 gene DOID:4362 cervical cancer ISO RGD:737085 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer PMID:25741868 8708100 Aldh3a2 aldehyde dehydrogenase 3 family member A2 gene DOID:5041 esophageal cancer ISO RGD:737085 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus PMID:25741868 8708100 Aldh3a2 aldehyde dehydrogenase 3 family member A2 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:737085 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma PMID:25741868 8708100 Aldh3a2 aldehyde dehydrogenase 3 family member A2 gene DOID:630 genetic disease ISO RGD:737085 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8708100 Aldh3a2 aldehyde dehydrogenase 3 family member A2 gene DOID:9005024 Hereditary Adrenocortical Carcinoma ISO RGD:737085 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary 8708100 Aldh3a2 aldehyde dehydrogenase 3 family member A2 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:737085 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8708122 Efna1 ephrin A1 gene DOID:10534 stomach cancer ISO RGD:730990 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8708122 Efna1 ephrin A1 gene DOID:4362 cervical cancer ISO RGD:730990 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8708122 Efna1 ephrin A1 gene DOID:5041 esophageal cancer ISO RGD:730990 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8708122 Efna1 ephrin A1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:730990 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 8708122 Efna1 ephrin A1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:730990 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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:9008952 Breast Cancer, Familial ISO RGD:730990 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 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 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:735686 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia PMID:25741868|PMID:28492532 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 20250708 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome PMID:23824657|PMID:25741868|PMID:25835445|PMID:26188975|PMID:28492532|PMID:39653386 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:0050939 uterine corpus endometrial carcinoma ISO RGD:735686 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma PMID:25741868 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:0060249 scoliosis ISO RGD:735686 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Scoliosis PMID:25741868 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:735686 D RGD:8554872 20250729 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 20260519 ClinVar ClinVar Annotator: match by term: LOEYS-DIETZ SYNDROME 5 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 5 | ClinVar Annotator: match by term: Rienhoff syndrome PMID:16199547|PMID:1631557|PMID:17576681|PMID:19763152|PMID:20307669|PMID:22406018|PMID:22943793|PMID:23824657|PMID:23861362|PMID:24125834|PMID:24798638|PMID:25351510|PMID:25447171|PMID:25741868|PMID:25835445|PMID:2618446|PMID:26184463|PMID:26188975|PMID:28166282|PMID:28425089|PMID:28492532|PMID:29109152|PMID:29247119|PMID:29392890|PMID:29551499|PMID:29907982|PMID:30675029|PMID:31898322|PMID:32746448|PMID:32897753|PMID:34659991|PMID:35819174|PMID:35903967|PMID:35918752|PMID:36973604|PMID:37813462|PMID:38041506|PMID:38958168|PMID:39653386|PMID:9536098|PMID:9683588 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:0080169 tricuspid atresia ISO RGD:735686 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Tricuspid atresia PMID:25741868 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:0080332 bicuspid aortic valve disease ISO RGD:735686 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Bicuspid aortic valve PMID:28492532|PMID:31898322 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 20260616 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 1 | ClinVar Annotator: match by term: TGFB3-related condition PMID:15639475|PMID:23824657|PMID:23861362|PMID:25741868|PMID:25835445|PMID:26188975|PMID:28166282|PMID:28492532|PMID:29109152|PMID:29247119|PMID:29392890|PMID:29551499|PMID:29907982|PMID:30675029|PMID:31898322|PMID:32746448|PMID:32897753|PMID:35819174|PMID:35903967|PMID:35918752|PMID:36973604|PMID:39653386 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:10534 stomach cancer ISO RGD:735686 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:1059 intellectual disability ISO RGD:735686 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 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:1115 sarcoma ISO RGD:735686 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma PMID:25741868 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:11502 mitral valve insufficiency ISO RGD:735686 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Mitral regurgitation PMID:28492532|PMID:31898322 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: 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 20250408 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: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:28341588|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:14004 thoracic aortic aneurysm ISO RGD:735686 D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:16199547|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:28341588|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:14004 thoracic aortic aneurysm ISO RGD:735686 D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:16199547|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:28341588|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:39653386|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 20260616 ClinVar ClinVar Annotator: match by term: Dilatation of the sinus of Valsalva | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:17576681|PMID:23824657|PMID:23861362|PMID:24125834|PMID:25351510|PMID:25447171|PMID:25741868|PMID:25835445|PMID:26188975|PMID:28166282|PMID:28492532|PMID:29109152|PMID:29247119|PMID:29392890|PMID:29551499|PMID:29907982|PMID:30675029|PMID:31898322|PMID:32897753|PMID:34659991|PMID:35819174|PMID:35903967|PMID:35918752|PMID:36973604|PMID:38041506|PMID:38958168|PMID:39653386|PMID:9536098 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:1657 ventricular septal defect ISO RGD:735686 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ventricular septal defect PMID:25741868 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:2340 craniosynostosis ISO RGD:735686 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Brachycephaly PMID:25741868 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:2843 long QT syndrome ISO RGD:735686 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 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:5041 esophageal cancer ISO RGD:735686 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus PMID:25741868 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:540 strabismus ISO RGD:735686 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Strabismus PMID:25741868 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:57 aortic valve insufficiency ISO RGD:735686 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Aortic regurgitation PMID:25741868|PMID:28492532 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:735686 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma PMID:25741868 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:6420 pulmonary valve stenosis ISO RGD:735686 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Pulmonic stenosis PMID:25741868 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:865 vasculitis ISO RGD:735686 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Vasculitis PMID:25741868 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:735686 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868|PMID:28492532 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:9001224 Striae Distensae ISO RGD:735686 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Striae distensae PMID:25741868|PMID:28492532 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:9002189 High Myopia ISO RGD:735686 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: High myopia PMID:25741868 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:9003133 Hypertelorism ISO RGD:735686 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:25741868 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:9004665 Pectus Carinatum ISO RGD:735686 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Pectus carinatum PMID:25741868 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:9005077 Joint Instability ISO RGD:735686 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Joint hypermobility PMID:25741868 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:9005890 Disproportionate Tall Stature ISO RGD:735686 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Disproportionate tall stature PMID:25741868 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:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:735686 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 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:9007573 Flatfoot ISO RGD:735686 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Pes planus PMID:25741868|PMID:28492532|PMID:31898322 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 20260616 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:23824657|PMID:25741868|PMID:25835445|PMID:26188975|PMID:28492532 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:0050387 nonpapillary renal cell carcinoma ISO RGD:1343212 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8708155 Rragb Ras related GTP binding B gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1343212 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8708155 Rragb Ras related GTP binding B gene DOID:10534 stomach cancer ISO RGD:1343212 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8708155 Rragb Ras related GTP binding B gene DOID:1115 sarcoma ISO RGD:1343212 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8708155 Rragb Ras related GTP binding B gene DOID:12849 autistic disorder ISO RGD:1343212 D RGD:8554872 20250722 ClinVar ClinVar Annotator: match by term: Autism 8708155 Rragb Ras related GTP binding B gene DOID:4074 pancreatic adenocarcinoma ISO RGD:1343212 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma 8708155 Rragb Ras related GTP binding B gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1343212 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8708155 Rragb Ras related GTP binding B gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1343212 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8708176 Mpv17 mitochondrial inner membrane protein MPV17 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1353525 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma PMID:16199547|PMID:20074988|PMID:23714749|PMID:25741868|PMID:28492532 8708176 Mpv17 mitochondrial inner membrane protein MPV17 gene DOID:0070329 mitochondrial DNA depletion syndrome ISO RGD:1353525 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome PMID:17576681|PMID:18329934|PMID:20074988|PMID:20614188|PMID:22508010|PMID:23714749|PMID:23829229|PMID:24190800|PMID:25129007|PMID:25741868|PMID:25861990|PMID:26741492|PMID:27536553|PMID:28492532|PMID:28776642|PMID:29282788|PMID:32827528|PMID:34979697|PMID:37184518|PMID:38180987|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 20250506 ClinVar 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:31674169|PMID:32703289|PMID:33258288|PMID:33486010|PMID:34476298|PMID:34979697|PMID:36753038|PMID:37712079|PMID:38703036|PMID:9536098 8708176 Mpv17 mitochondrial inner membrane protein MPV17 gene DOID:0080125 mitochondrial DNA depletion syndrome 6 ISO RGD:1353525 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 6 | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | ClinVar Annotator: match by term: Navajo neurohepatopathy PMID:16199547|PMID:18695062|PMID:19520594|PMID:20074988|PMID:22508010|PMID:23714749|PMID:23829229|PMID:24190800|PMID:25129007|PMID:25741868|PMID:25861990|PMID:26741492|PMID:27536553|PMID:28207748|PMID:28492532|PMID:28776642|PMID:29282788|PMID:29318572|PMID:30782936|PMID:31319225|PMID:32827528|PMID:34979697|PMID:36753038|PMID:37184518|PMID:37712079|PMID:38180987 8708176 Mpv17 mitochondrial inner membrane protein MPV17 gene DOID:0110033 Alport syndrome 2 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 20260616 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:17576681|PMID:19520594|PMID:20074988|PMID:22508010|PMID:23714749|PMID:23829229|PMID:24190800|PMID:25129007|PMID:25741868|PMID:25861990|PMID:26741492|PMID:27536553|PMID:28492532|PMID:28776642|PMID:29282788|PMID:31664948|PMID:32827528|PMID:34979697|PMID:37184518|PMID:38180987|PMID:9536098 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:10534 stomach cancer ISO RGD:1353525 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8708176 Mpv17 mitochondrial inner membrane protein MPV17 gene DOID:11830 myopia ISO RGD:1353525 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Myopia PMID:23714749|PMID:23829229|PMID:25741868|PMID:28492532|PMID:32827528|PMID:37184518|PMID:38180987 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:12679 nephrocalcinosis ISO RGD:1353525 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nephrocalcinosis PMID:23714749|PMID:25741868 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:13580 cholestasis ISO RGD:1353525 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholestasis PMID:25741868 8708176 Mpv17 mitochondrial inner membrane protein MPV17 gene DOID:1596 depressive disorder ISO RGD:1353525 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Depression PMID:23714749|PMID:23829229|PMID:25741868|PMID:28492532|PMID:32827528|PMID:37184518|PMID:38180987 8708176 Mpv17 mitochondrial inner membrane protein MPV17 gene DOID:1826 epilepsy ISO RGD:1353525 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Seizure PMID:23714749|PMID:25741868 8708176 Mpv17 mitochondrial inner membrane protein MPV17 gene DOID:1909 melanoma ISO RGD:1353525 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8708176 Mpv17 mitochondrial inner membrane protein MPV17 gene DOID:2030 anxiety disorder ISO RGD:1353525 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Anxiety PMID:23714749|PMID:23829229|PMID:25741868|PMID:28492532|PMID:32827528|PMID:37184518|PMID:38180987 8708176 Mpv17 mitochondrial inner membrane protein MPV17 gene DOID:3087 gingivitis ISO RGD:1353525 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Gingivitis PMID:23714749|PMID:23829229|PMID:25741868|PMID:28492532|PMID:32827528|PMID:37184518|PMID:38180987 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:5746 ovarian serous cystadenocarcinoma ISO RGD:1353525 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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:6171 uterine carcinosarcoma ISO RGD:1353525 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8708176 Mpv17 mitochondrial inner membrane protein MPV17 gene DOID:630 genetic disease ISO RGD:1353525 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8708176 Mpv17 mitochondrial inner membrane protein MPV17 gene DOID:700 mitochondrial metabolism disease ISO RGD:1353525 D RGD:9068941 20260521 CTD CTD Direct Evidence: marker/mechanism PMID:18818194 8708176 Mpv17 mitochondrial inner membrane protein MPV17 gene DOID:824 periodontitis ISO RGD:1353525 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Periodontitis PMID:23714749|PMID:23829229|PMID:25741868|PMID:28492532|PMID:32827528|PMID:37184518|PMID:38180987 8708176 Mpv17 mitochondrial inner membrane protein MPV17 gene DOID:9000761 Deoxyguanosine Kinase Deficiency ISO RGD:1353525 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Hepatocerebral Mitochondrial DNA Depletion Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome, hepatocerebral form PMID:16199547|PMID:16582910|PMID:16909392|PMID:17694548|PMID:18261905|PMID:18695062|PMID:19012992|PMID:19520594|PMID:19748572|PMID:20074988|PMID:22508010|PMID:22964873|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:28776642|PMID:29282788|PMID:30273399|PMID:30298599|PMID:30833296|PMID:31319225|PMID:32703289|PMID:32827528|PMID:33242146|PMID:33486010|PMID:34476298|PMID:34624274|PMID:34979697|PMID:36753038|PMID:37184518|PMID:38180987 8708176 Mpv17 mitochondrial inner membrane protein MPV17 gene DOID:9001276 Failure to Thrive ISO RGD:1353525 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:23714749|PMID:25741868 8708176 Mpv17 mitochondrial inner membrane protein MPV17 gene DOID:9005603 Muscle Hypotonia ISO RGD:1353525 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:23714749|PMID:23829229|PMID:25741868|PMID:28492532|PMID:32827528|PMID:37184518|PMID:38180987 8708176 Mpv17 mitochondrial inner membrane protein MPV17 gene DOID:9006030 Infant Death ISO RGD:1353525 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Death in infancy PMID:23714749|PMID:25741868 8708176 Mpv17 mitochondrial inner membrane protein MPV17 gene DOID:9452 steatotic liver disease ISO RGD:1353525 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatic steatosis PMID:23714749|PMID:25741868 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1352855 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma PMID:28492532 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:0050534 congenital stationary night blindness ISO RGD:1352855 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:0050572 cone-rod dystrophy ISO RGD:1352855 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy PMID:11992260|PMID:14564670|PMID:16055928|PMID:16969763|PMID:22264887|PMID:23372056|PMID:25741868|PMID:26093275|PMID:28492532|PMID:28863407|PMID:30718709|PMID:31953110|PMID:32702353|PMID:33090715|PMID:34906470|PMID:34985506 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:0050795 cone dystrophy ISO RGD:1352855 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:11875055|PMID:22264887|PMID:25741868|PMID:28492532|PMID:29785639 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1352855 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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 20260602 ClinVar ClinVar Annotator: match by term: CHOROIDORETINAL DEGENERATION WITH RETINAL REFLEX IN HETEROZYGOUS WOMEN | ClinVar Annotator: match by term: Choroidoretinal degeneration with retinal reflex in heterozygous women | ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 3 | ClinVar Annotator: match by term: Retinitis pigmentosa 3 PMID:10932196|PMID:10937588|PMID:11754050|PMID:11992260|PMID:12657579|PMID:14564670|PMID:16055928|PMID:16969763|PMID:17195164|PMID:17405150|PMID:17576681|PMID:17923551|PMID:19429592|PMID:19815619|PMID:20631154|PMID:21857984|PMID:22264887|PMID:23150612|PMID:23213406|PMID:23372056|PMID:24033266|PMID:25356976|PMID:25741868|PMID:25741869|PMID:26093275|PMID:26143542|PMID:27620828|PMID:28322733|PMID:28492532|PMID:28863407|PMID:30543658|PMID:31645972|PMID:31953110|PMID:31960602|PMID:32036094|PMID:32679846|PMID:32702353|PMID:33090715|PMID:33355362|PMID:33546218|PMID:33620278|PMID:34745198|PMID:34828430|PMID:34906470|PMID:34985506|PMID:35166581|PMID:35432464|PMID:36259723|PMID:36276946|PMID:36284670|PMID:3646071|PMID:36460718|PMID:36996441|PMID:37107692|PMID:38117582|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 20260616 ClinVar ClinVar Annotator: match by term: CONE-ROD DYSTROPHY, X-LINKED, 1 | ClinVar Annotator: match by term: X-LINKED ROD CONE DYSTROPHY | ClinVar Annotator: match by term: X-linked cone-rod dystrophy 1 PMID:10932196|PMID:11754050|PMID:16055928|PMID:16199547|PMID:16969763|PMID:17195164|PMID:22264887|PMID:23150612|PMID:23372056|PMID:24033266|PMID:25741868|PMID:26093275|PMID:27620828|PMID:28492532|PMID:31953110|PMID:32036094|PMID:32856788|PMID:33090715|PMID:33355362|PMID:33620278|PMID:34745198|PMID:34985506|PMID:35432464|PMID:36276946|PMID:36460718|PMID:36882936|PMID:36996441 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 20260616 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness PMID:10932196|PMID:11754050|PMID:17195164|PMID:22264887|PMID:23150612|PMID:23372056|PMID:25741868|PMID:27620828|PMID:28492532|PMID:31953110|PMID:32036094|PMID:33090715|PMID:33355362|PMID:33620278|PMID:34745198|PMID:34985506|PMID:35432464|PMID:36276946|PMID:36460718|PMID:36996441|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 20260616 ClinVar ClinVar Annotator: match by term: MACULAR DEGENERATION, ATROPHIC, X-LINKED | ClinVar Annotator: match by term: Macular degeneration, X-linked atrophic PMID:10932196|PMID:11754050|PMID:12160730|PMID:17195164|PMID:22264887|PMID:23150612|PMID:23372056|PMID:24033266|PMID:25741868|PMID:27620828|PMID:28492532|PMID:31953110|PMID:32036094|PMID:33090715|PMID:33355362|PMID:33620278|PMID:34745198|PMID:34985506|PMID:35432464|PMID:36276946|PMID:36460718|PMID:36996441 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:10584 retinitis pigmentosa ISO RGD:1352855 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10482958|PMID:10932196|PMID:11754050|PMID:11992260|PMID:12402343|PMID:16055928|PMID:16199547|PMID:16969763|PMID:17195164|PMID:17576681|PMID:17724181|PMID:18552978|PMID:20861475|PMID:22264887|PMID:23150612|PMID:23213406|PMID:23372056|PMID:23443027|PMID:25741868|PMID:26261414|PMID:27620828|PMID:28322733|PMID:28492532|PMID:28863407|PMID:29276052|PMID:30622176|PMID:30718709|PMID:31456290|PMID:31953110|PMID:32036094|PMID:32531858|PMID:32679846|PMID:32702353|PMID:33090715|PMID:33355362|PMID:33620278|PMID:34745198|PMID:34906470|PMID:34985506|PMID:35432464|PMID:36276946|PMID:36460718|PMID:36909829|PMID:36996441|PMID:8673101|PMID:8817343|PMID:9536098 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:11054 urinary bladder cancer ISO RGD:1352855 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 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:14791 Leber congenital amaurosis ISO RGD:1352855 D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:25741868 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:3275 thymoma ISO RGD:1352855 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:3907 lung squamous cell carcinoma ISO RGD:1352855 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:4362 cervical cancer ISO RGD:1352855 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:4448 macular degeneration ISO RGD:1352855 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Macular degeneration | ClinVar Annotator: match by term: Macular dystrophy PMID:10932196|PMID:11754050|PMID:17195164|PMID:22264887|PMID:23150612|PMID:23372056|PMID:25741868|PMID:27620828|PMID:28492532|PMID:31953110|PMID:32036094|PMID:33090715|PMID:33355362|PMID:33620278|PMID:34745198|PMID:34985506|PMID:35432464|PMID:36276946|PMID:36460718|PMID:36996441 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:5041 esophageal cancer ISO RGD:1352855 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:5679 retinal disease ISO RGD:1352855 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Retinal disorders 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:5746 ovarian serous cystadenocarcinoma ISO RGD:1352855 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:684 hepatocellular carcinoma ISO RGD:1352855 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:28492532 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:8466 retinal degeneration ISO RGD:1352855 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Retinal degeneration PMID:10932196|PMID:11754050|PMID:17195164|PMID:22264887|PMID:23150612|PMID:23372056|PMID:25741868|PMID:27620828|PMID:28492532|PMID:31953110|PMID:32036094|PMID:33090715|PMID:33355362|PMID:33620278|PMID:34745198|PMID:34985506|PMID:35432464|PMID:36276946|PMID:36460718|PMID:36996441 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:8501 fundus dystrophy ISO RGD:1352855 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10480356|PMID:10482958|PMID:10737996|PMID:10932196|PMID:10937588|PMID:11754050|PMID:11992260|PMID:12402343|PMID:12657579|PMID:14564670|PMID:14691151|PMID:16055928|PMID:16199547|PMID:16387007|PMID:16969763|PMID:17195164|PMID:17576681|PMID:17724181|PMID:18332319|PMID:18552978|PMID:19815619|PMID:20631154|PMID:21857984|PMID:22264887|PMID:22888088|PMID:23150612|PMID:23213406|PMID:23372056|PMID:23681342|PMID:24033266|PMID:25283059|PMID:25352739|PMID:25356976|PMID:2552515|PMID:25741868|PMID:26747767|PMID:26766544|PMID:26872967|PMID:27620828|PMID:27995965|PMID:28322733|PMID:28492532|PMID:288634|PMID:28863407|PMID:28912962|PMID:29528978|PMID:29721948|PMID:30193314|PMID:30313097|PMID:30543658|PMID:30622176|PMID:30718709|PMID:30917587|PMID:31054281|PMID:31087526|PMID:31456290|PMID:31630094|PMID:31645972|PMID:31804667|PMID:31816670|PMID:31953110|PMID:32000842|PMID:32036094|PMID:32037395|PMID:32100970|PMID:3214136|PMID:3253185|PMID:32531858|PMID:32702353|PMID:32788070|PMID:32795431|PMID:33090715|PMID:33355362|PMID:33467000|PMID:33576794|PMID:33620278|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:36882936|PMID:36996441|PMID:38219857|PMID:38576124|PMID:8673101|PMID:8817343|PMID:9399904|PMID:9536098|PMID:9855162 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:9000343 Vision Disorders ISO RGD:1352855 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Visual impairment PMID:10932196|PMID:11754050|PMID:17195164|PMID:22264887|PMID:23150612|PMID:23372056|PMID:25741868|PMID:27620828|PMID:28492532|PMID:31953110|PMID:32036094|PMID:33090715|PMID:33355362|PMID:33620278|PMID:34745198|PMID:34985506|PMID:35432464|PMID:36276946|PMID:36460718|PMID:36996441 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: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:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1352855 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 PMID:28492532 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:9008952 Breast Cancer, Familial ISO RGD:1352855 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Breast cancer, familial 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:9562 primary ciliary dyskinesia ISO RGD:1352855 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:10482958|PMID:10932196|PMID:10937588|PMID:10980543|PMID:11754050|PMID:11857109|PMID:11968081|PMID:11992260|PMID:12402343|PMID:12657579|PMID:12859409|PMID:14564670|PMID:14691151|PMID:16055928|PMID:16199547|PMID:16969763|PMID:17195164|PMID:17576681|PMID:17724181|PMID:17898302|PMID:18552978|PMID:19218993|PMID:19815619|PMID:20591486|PMID:20631154|PMID:20861475|PMID:21857984|PMID:22264887|PMID:23150612|PMID:23213406|PMID:23372056|PMID:23443027|PMID:23591405|PMID:23681342|PMID:23847139|PMID:23950152|PMID:24033266|PMID:25283059|PMID:25356976|PMID:25640679|PMID:25741868|PMID:26093275|PMID:26747767|PMID:26766544|PMID:27620828|PMID:27768226|PMID:27995965|PMID:28041643|PMID:28127548|PMID:28157192|PMID:28322733|PMID:28492532|PMID:28559085|PMID:28863407|PMID:29555955|PMID:29641573|PMID:30067075|PMID:30105367|PMID:30193314|PMID:30337596|PMID:30543658|PMID:30622176|PMID:30902645|PMID:31054281|PMID:31456290|PMID:31645972|PMID:31652454|PMID:31953110|PMID:31960602|PMID:32000842|PMID:32036094|PMID:32037395|PMID:32326409|PMID:32531858|PMID:32679846|PMID:32702353|PMID:33090715|PMID:33247286|PMID:33355362|PMID:33467000|PMID:33546218|PMID:33576794|PMID:33620278|PMID:34745198|PMID:34828430|PMID:34906470|PMID:34946927|PMID:34985506|PMID:35119454|PMID:35432464|PMID:35806195|PMID:35836572|PMID:35892439|PMID:36276946|PMID:3646071|PMID:36460718|PMID:36464167|PMID:36819107|PMID:36996441|PMID:37217489|PMID:37854381|PMID:38219857|PMID:8673101|PMID:8817343|PMID:9399904|PMID:9536098|PMID:9855162 8708231 Psph phosphoserine phosphatase gene DOID:0050721 serine deficiency ISO RGD:1318726 D RGD:8554872 20250527 ClinVar ClinVar Annotator: match by term: neurometabolic disorder due to serine deficiency PMID:24033266|PMID:25741868 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 20260602 ClinVar ClinVar Annotator: match by term: PHOSPHOSERINE PHOSPHATASE DEFICIENCY | ClinVar Annotator: match by term: PSPH deficiency | ClinVar Annotator: match by term: PSPH-related condition PMID:25741868|PMID:28492532 8708231 Psph phosphoserine phosphatase gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1318726 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8708231 Psph phosphoserine phosphatase gene DOID:10534 stomach cancer ISO RGD:1318726 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8708231 Psph phosphoserine phosphatase gene DOID:1059 intellectual disability ISO RGD:1318726 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:14673469|PMID:25741868 8708231 Psph phosphoserine phosphatase gene DOID:10907 microcephaly ISO RGD:1318726 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:14673469|PMID:25741868 8708231 Psph phosphoserine phosphatase gene DOID:1115 sarcoma ISO RGD:1318726 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8708231 Psph phosphoserine phosphatase gene DOID:12849 autistic disorder ISO RGD:1318726 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Autism PMID:14673469|PMID:25741868 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:1826 epilepsy ISO RGD:1318726 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Seizure PMID:14673469|PMID:25741868 8708231 Psph phosphoserine phosphatase gene DOID:1909 melanoma ISO RGD:1318726 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8708231 Psph phosphoserine phosphatase gene DOID:2187 amelogenesis imperfecta ISO RGD:1318726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta PMID:28492532 8708231 Psph phosphoserine phosphatase gene DOID:3275 thymoma ISO RGD:1318726 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8708231 Psph phosphoserine phosphatase gene DOID:4362 cervical cancer ISO RGD:1318726 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8708231 Psph phosphoserine phosphatase gene DOID:4947 cholangiocarcinoma ISO RGD:1318726 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 8708231 Psph phosphoserine phosphatase gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1318726 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 8708231 Psph phosphoserine phosphatase gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1318726 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8708231 Psph phosphoserine phosphatase gene DOID:6171 uterine carcinosarcoma ISO RGD:1318726 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 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:684 hepatocellular carcinoma ISO RGD:1318726 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8708231 Psph phosphoserine phosphatase gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1318726 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 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:9008952 Breast Cancer, Familial ISO RGD:1318726 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 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:0050387 nonpapillary renal cell carcinoma ISO RGD:1320262 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8708247 Rgl3 ral guanine nucleotide dissociation stimulator like 3 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1320262 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8708247 Rgl3 ral guanine nucleotide dissociation stimulator like 3 gene DOID:11054 urinary bladder cancer ISO RGD:1320262 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8708247 Rgl3 ral guanine nucleotide dissociation stimulator like 3 gene DOID:234 colon adenocarcinoma ISO RGD:1320262 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8708247 Rgl3 ral guanine nucleotide dissociation stimulator like 3 gene DOID:4362 cervical cancer ISO RGD:1320262 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8708247 Rgl3 ral guanine nucleotide dissociation stimulator like 3 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1320262 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 8708247 Rgl3 ral guanine nucleotide dissociation stimulator like 3 gene DOID:5041 esophageal cancer ISO RGD:1320262 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8708247 Rgl3 ral guanine nucleotide dissociation stimulator like 3 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1320262 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8708247 Rgl3 ral guanine nucleotide dissociation stimulator like 3 gene DOID:6171 uterine carcinosarcoma ISO RGD:1320262 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8708247 Rgl3 ral guanine nucleotide dissociation stimulator like 3 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1320262 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8708247 Rgl3 ral guanine nucleotide dissociation stimulator like 3 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1320262 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8708247 Rgl3 ral guanine nucleotide dissociation stimulator like 3 gene DOID:9256 colorectal cancer ISO RGD:1320262 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colorectal cancer 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: Mild intellectual disability 8708275 Ubr7 ubiquitin protein ligase E3 component n-recognin 7 gene DOID:11054 urinary bladder cancer ISO RGD:1344986 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8708275 Ubr7 ubiquitin protein ligase E3 component n-recognin 7 gene DOID:234 colon adenocarcinoma ISO RGD:1344986 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8708275 Ubr7 ubiquitin protein ligase E3 component n-recognin 7 gene DOID:2843 long QT syndrome ISO RGD:1344986 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Long QT syndrome 8708275 Ubr7 ubiquitin protein ligase E3 component n-recognin 7 gene DOID:4947 cholangiocarcinoma ISO RGD:1344986 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 8708275 Ubr7 ubiquitin protein ligase E3 component n-recognin 7 gene DOID:5041 esophageal cancer ISO RGD:1344986 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8708275 Ubr7 ubiquitin protein ligase E3 component n-recognin 7 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1344986 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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 | ClinVar Annotator: match by term: Li-Campeau syndrome PMID:25741868|PMID:33340455 8708275 Ubr7 ubiquitin protein ligase E3 component n-recognin 7 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1344986 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 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 8708275 Ubr7 ubiquitin protein ligase E3 component n-recognin 7 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1344986 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8708275 Ubr7 ubiquitin protein ligase E3 component n-recognin 7 gene DOID:9119 acute myeloid leukemia ISO RGD:1344986 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8708291 Dpp7 dipeptidyl peptidase 7 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:733882 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8708291 Dpp7 dipeptidyl peptidase 7 gene DOID:0060058 lymphoma ISO RGD:733882 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lymphoma 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:10534 stomach cancer ISO RGD:733882 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8708291 Dpp7 dipeptidyl peptidase 7 gene DOID:11054 urinary bladder cancer ISO RGD:733882 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8708291 Dpp7 dipeptidyl peptidase 7 gene DOID:1115 sarcoma ISO RGD:733882 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8708291 Dpp7 dipeptidyl peptidase 7 gene DOID:1324 lung cancer ISO RGD:733882 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8708291 Dpp7 dipeptidyl peptidase 7 gene DOID:1909 melanoma ISO RGD:733882 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8708291 Dpp7 dipeptidyl peptidase 7 gene DOID:234 colon adenocarcinoma ISO RGD:733882 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8708291 Dpp7 dipeptidyl peptidase 7 gene DOID:3275 thymoma ISO RGD:733882 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8708291 Dpp7 dipeptidyl peptidase 7 gene DOID:3907 lung squamous cell carcinoma ISO RGD:733882 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma 8708291 Dpp7 dipeptidyl peptidase 7 gene DOID:4362 cervical cancer ISO RGD:733882 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8708291 Dpp7 dipeptidyl peptidase 7 gene DOID:4947 cholangiocarcinoma ISO RGD:733882 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 8708291 Dpp7 dipeptidyl peptidase 7 gene DOID:5041 esophageal cancer ISO RGD:733882 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8708291 Dpp7 dipeptidyl peptidase 7 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:733882 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8708291 Dpp7 dipeptidyl peptidase 7 gene DOID:6171 uterine carcinosarcoma ISO RGD:733882 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8708291 Dpp7 dipeptidyl peptidase 7 gene DOID:684 hepatocellular carcinoma ISO RGD:733882 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 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:9004083 Familial Pancreatic Carcinoma ISO RGD:733882 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial pancreatic carcinoma 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:9008952 Breast Cancer, Familial ISO RGD:733882 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8708291 Dpp7 dipeptidyl peptidase 7 gene DOID:9119 acute myeloid leukemia ISO RGD:733882 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 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:0050939 uterine corpus endometrial carcinoma ISO RGD:1320569 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8708318 Hnrnpdl heterogeneous nuclear ribonucleoprotein D like gene DOID:0060058 lymphoma ISO RGD:1320569 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lymphoma 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 20260602 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:17576681|PMID:24647604|PMID:25741868|PMID:28492532|PMID:30604053|PMID:31267206|PMID:32528171|PMID:33131168|PMID:36575883|PMID:9536098 8708318 Hnrnpdl heterogeneous nuclear ribonucleoprotein D like gene DOID:0110764 hereditary spastic paraplegia 11 ISO RGD:1320569 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gait disturbance PMID:24647604|PMID:25741868|PMID:28492532|PMID:31267206 8708318 Hnrnpdl heterogeneous nuclear ribonucleoprotein D like gene DOID:10534 stomach cancer ISO RGD:1320569 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8708318 Hnrnpdl heterogeneous nuclear ribonucleoprotein D like gene DOID:1115 sarcoma ISO RGD:1320569 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8708318 Hnrnpdl heterogeneous nuclear ribonucleoprotein D like gene DOID:1324 lung cancer ISO RGD:1320569 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8708318 Hnrnpdl heterogeneous nuclear ribonucleoprotein D like gene DOID:1909 melanoma ISO RGD:1320569 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8708318 Hnrnpdl heterogeneous nuclear ribonucleoprotein D like gene DOID:3275 thymoma ISO RGD:1320569 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8708318 Hnrnpdl heterogeneous nuclear ribonucleoprotein D like gene DOID:4362 cervical cancer ISO RGD:1320569 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8708318 Hnrnpdl heterogeneous nuclear ribonucleoprotein D like gene DOID:4947 cholangiocarcinoma ISO RGD:1320569 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 8708318 Hnrnpdl heterogeneous nuclear ribonucleoprotein D like gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1320569 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8708318 Hnrnpdl heterogeneous nuclear ribonucleoprotein D like gene DOID:6039 uveal melanoma ISO RGD:1320569 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uveal melanoma 8708318 Hnrnpdl heterogeneous nuclear ribonucleoprotein D like gene DOID:6171 uterine carcinosarcoma ISO RGD:1320569 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8708318 Hnrnpdl heterogeneous nuclear ribonucleoprotein D like gene DOID:684 hepatocellular carcinoma ISO RGD:1320569 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8708318 Hnrnpdl heterogeneous nuclear ribonucleoprotein D like gene DOID:870 neuropathy ISO RGD:1320569 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868 8708318 Hnrnpdl heterogeneous nuclear ribonucleoprotein D like gene DOID:9005603 Muscle Hypotonia ISO RGD:1320569 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hypotonia PMID:24647604|PMID:25741868|PMID:28492532|PMID:31267206 8708318 Hnrnpdl heterogeneous nuclear ribonucleoprotein D like gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1320569 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8708318 Hnrnpdl heterogeneous nuclear ribonucleoprotein D like gene DOID:9119 acute myeloid leukemia ISO RGD:1320569 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8708318 Hnrnpdl heterogeneous nuclear ribonucleoprotein D like gene DOID:9277 primary cerebellar degeneration ISO RGD:1320569 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sensorimotor neuropathy PMID:25741868 8708340 Pcca propionyl-CoA carboxylase subunit alpha gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:736733 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma PMID:12559849|PMID:22593918|PMID:25741868|PMID:28492532 8708340 Pcca propionyl-CoA carboxylase subunit alpha gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:736733 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma PMID:15464417|PMID:24464666|PMID:25741868|PMID:28492532 8708340 Pcca propionyl-CoA carboxylase subunit alpha gene DOID:10534 stomach cancer ISO RGD:736733 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:12559849|PMID:22593918|PMID:25741868|PMID:28492532 8708340 Pcca propionyl-CoA carboxylase subunit alpha gene DOID:11054 urinary bladder cancer ISO RGD:736733 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8708340 Pcca propionyl-CoA carboxylase subunit alpha gene DOID:1115 sarcoma ISO RGD:736733 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8708340 Pcca propionyl-CoA carboxylase subunit alpha gene DOID:1324 lung cancer ISO RGD:736733 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer PMID:12559849|PMID:22593918|PMID:25741868|PMID:28492532 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 20260602 ClinVar ClinVar Annotator: match by term: Ketotic hyperglycinemia | ClinVar Annotator: match by term: PROPIONIC ACIDEMIA | ClinVar Annotator: match by term: Propionic Acidemia | ClinVar Annotator: match by term: Propionic acidemia | ClinVar Annotator: match by term: Propionyl-CoA carboxylase deficiency 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:18414145|PMID:18790721|PMID:19099776|PMID:19157943|PMID:2037281|PMID:20493181|PMID:2054936|PMID:20549364|PMID:20725044|PMID:21094621|PMID:22033733|PMID:22156789|PMID:22334403|PMID:22593918|PMID:23053474|PMID:23348723|PMID:23430860|PMID:23648696|PMID:24033266|PMID:24059531|PMID:24464666|PMID:24863100|PMID:25047749|PMID:25636094|PMID:25640679|PMID:25741868|PMID:25954003|PMID:27227689|PMID:27489777|PMID:27618451|PMID:27776753|PMID:27825584|PMID:27900673|PMID:27959697|PMID:28490743|PMID:28492532|PMID:28712602|PMID:28726123|PMID:28853722|PMID:29033250|PMID:29084941|PMID:29978829|PMID:30159853|PMID:30186825|PMID:30209273|PMID:30274917|PMID:30705822|PMID:31063319|PMID:31249402|PMID:31319225|PMID:31392117|PMID:31462756|PMID:31757659|PMID:31828787|PMID:31893529|PMID:31916709|PMID:32005694|PMID:32231837|PMID:32252659|PMID:32619257|PMID:32778825|PMID:33028371|PMID:33183246|PMID:33473339|PMID:33552909|PMID:33726816|PMID:33923806|PMID:34734058|PMID:35095998|PMID:35296328|PMID:35331292|PMID:36211601|PMID:36274442|PMID:36662638|PMID:37482098|PMID:37688338|PMID:37689673|PMID:38200289|PMID:38702429|PMID:38722054|PMID:38772378|PMID:38863445|PMID:40026238|PMID:40727219|PMID:7915138|PMID:8083196|PMID:9385377|PMID:9536098|PMID:9887338 8708340 Pcca propionyl-CoA carboxylase subunit alpha gene DOID:1909 melanoma ISO RGD:736733 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma PMID:12559849|PMID:22593918|PMID:25741868|PMID:28492532 8708340 Pcca propionyl-CoA carboxylase subunit alpha gene DOID:3275 thymoma ISO RGD:736733 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma PMID:12559849|PMID:22593918|PMID:25741868|PMID:28492532 8708340 Pcca propionyl-CoA carboxylase subunit alpha gene DOID:4362 cervical cancer ISO RGD:736733 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer PMID:12559849|PMID:22593918|PMID:25741868|PMID:28492532 8708340 Pcca propionyl-CoA carboxylase subunit alpha gene DOID:4467 clear cell renal cell carcinoma ISO RGD:736733 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney PMID:12559849|PMID:22593918|PMID:25741868|PMID:28492532 8708340 Pcca propionyl-CoA carboxylase subunit alpha gene DOID:5041 esophageal cancer ISO RGD:736733 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus PMID:12559849|PMID:22593918|PMID:25741868|PMID:28492532 8708340 Pcca propionyl-CoA carboxylase subunit alpha gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:736733 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma PMID:12559849|PMID:22593918|PMID:25741868|PMID:28492532 8708340 Pcca propionyl-CoA carboxylase subunit alpha gene DOID:6039 uveal melanoma ISO RGD:736733 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uveal melanoma PMID:12559849|PMID:22593918|PMID:25741868|PMID:28492532 8708340 Pcca propionyl-CoA carboxylase subunit alpha gene DOID:6171 uterine carcinosarcoma ISO RGD:736733 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma PMID:12559849|PMID:22593918|PMID:25741868|PMID:28492532 8708340 Pcca propionyl-CoA carboxylase subunit alpha gene DOID:630 genetic disease ISO RGD:736733 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8708340 Pcca propionyl-CoA carboxylase subunit alpha gene DOID:684 hepatocellular carcinoma ISO RGD:736733 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:12559849|PMID:22593918|PMID:25741868|PMID:28492532 8708340 Pcca propionyl-CoA carboxylase subunit alpha gene DOID:9005024 Hereditary Adrenocortical Carcinoma ISO RGD:736733 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary PMID:12559849|PMID:22593918|PMID:25741868|PMID:28492532 8708340 Pcca propionyl-CoA carboxylase subunit alpha gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:736733 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 PMID:12559849|PMID:22593918|PMID:25741868|PMID:28492532 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 8708340 Pcca propionyl-CoA carboxylase subunit alpha gene DOID:9256 colorectal cancer ISO RGD:736733 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:12559849|PMID:22593918|PMID:25741868|PMID:28492532 8708382 Thap1 THAP domain containing 1 gene DOID:0050835 generalized dystonia ISO RGD:1316870 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Generalized dystonia PMID:25741868 8708382 Thap1 THAP domain containing 1 gene DOID:0050840 cervical dystonia ISO RGD:1316870 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Spasmodic torticollis PMID:25741868 8708382 Thap1 THAP domain containing 1 gene DOID:0050844 spasmodic dystonia ISO RGD:1316870 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Laryngeal dystonia PMID:25741868 8708382 Thap1 THAP domain containing 1 gene DOID:0070736 multiple mitochondrial dysfunctions syndrome 9B ISO RGD:1316870 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 9b PMID:25741868|PMID:26467025|PMID:28492532 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 20260602 ClinVar ClinVar Annotator: match by term: DYSTONIA 6, TORSION | ClinVar Annotator: match by term: Dystonia 6, torsion | ClinVar Annotator: match by term: Torsion dystonia 6 PMID:17576681|PMID:18073205|PMID:19182804|PMID:19345147|PMID:19763152|PMID:19908320|PMID:20083799|PMID:20144952|PMID:20211909|PMID:20307669|PMID:20669277|PMID:20687193|PMID:20865765|PMID:20925076|PMID:21495072|PMID:21520283|PMID:21752024|PMID:21782490|PMID:21847143|PMID:22377579|PMID:22406018|PMID:22844099|PMID:22903657|PMID:23036512|PMID:23180184|PMID:24500857|PMID:24976531|PMID:25088175|PMID:25741868|PMID:26467025|PMID:26486352|PMID:26506956|PMID:26610312|PMID:26944167|PMID:27123488|PMID:28492532|PMID:28697333|PMID:29520331|PMID:31153764|PMID:31817799|PMID:32112337|PMID:33175450|PMID:33369735|PMID:33949708|PMID:34686877|PMID:35531120|PMID:36854336|PMID:38094642|PMID:9536098 8708382 Thap1 THAP domain containing 1 gene DOID:0110764 hereditary spastic paraplegia 11 ISO RGD:1316870 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gait disturbance PMID:25741868 8708382 Thap1 THAP domain containing 1 gene DOID:4362 cervical cancer ISO RGD:1316870 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8708382 Thap1 THAP domain containing 1 gene DOID:5041 esophageal cancer ISO RGD:1316870 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 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 20260519 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 8708382 Thap1 THAP domain containing 1 gene DOID:9001722 Dysarthria ISO RGD:1316870 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Dysarthria PMID:25741868 8708382 Thap1 THAP domain containing 1 gene DOID:9002775 Cognitive Dysfunction ISO RGD:1316870 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cognitive impairment PMID:25741868 8708397 Coil coilin gene DOID:11054 urinary bladder cancer ISO RGD:735624 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8708397 Coil coilin gene DOID:1115 sarcoma ISO RGD:735624 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8708397 Coil coilin gene DOID:5041 esophageal cancer ISO RGD:735624 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 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, 5 PMID:38922859 8708397 Coil coilin gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:735624 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8708397 Coil coilin gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:735624 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8708397 Coil coilin gene DOID:9008952 Breast Cancer, Familial ISO RGD:735624 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8708415 Pmvk phosphomevalonate kinase gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1321931 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8708415 Pmvk phosphomevalonate kinase gene DOID:3805 porokeratosis ISO RGD:1321931 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Linear porokeratosis PMID:30942823 8708415 Pmvk phosphomevalonate kinase gene DOID:4362 cervical cancer ISO RGD:1321931 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8708415 Pmvk phosphomevalonate kinase gene DOID:5041 esophageal cancer ISO RGD:1321931 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8708415 Pmvk phosphomevalonate kinase gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1321931 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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:684 hepatocellular carcinoma ISO RGD:1321931 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 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 20260616 ClinVar ClinVar Annotator: match by term: PMVK-related condition | ClinVar Annotator: match by term: POROKERATOSIS 1, MULTIPLE TYPES PMID:25741868|PMID:27052676|PMID:30942823 8708424 Wdr76 WD repeat domain 76 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1605336 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8708424 Wdr76 WD repeat domain 76 gene DOID:10534 stomach cancer ISO RGD:1605336 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8708424 Wdr76 WD repeat domain 76 gene DOID:11054 urinary bladder cancer ISO RGD:1605336 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8708424 Wdr76 WD repeat domain 76 gene DOID:1909 melanoma ISO RGD:1605336 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8708424 Wdr76 WD repeat domain 76 gene DOID:234 colon adenocarcinoma ISO RGD:1605336 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8708424 Wdr76 WD repeat domain 76 gene DOID:3275 thymoma ISO RGD:1605336 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8708424 Wdr76 WD repeat domain 76 gene DOID:5041 esophageal cancer ISO RGD:1605336 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8708424 Wdr76 WD repeat domain 76 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1605336 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8708424 Wdr76 WD repeat domain 76 gene DOID:684 hepatocellular carcinoma ISO RGD:1605336 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8708424 Wdr76 WD repeat domain 76 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1605336 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial prostate cancer 8708424 Wdr76 WD repeat domain 76 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1605336 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8708424 Wdr76 WD repeat domain 76 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1605336 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8708441 Ccdc33 coiled-coil domain containing 33 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1602211 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8708441 Ccdc33 coiled-coil domain containing 33 gene DOID:10534 stomach cancer ISO RGD:1602211 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8708441 Ccdc33 coiled-coil domain containing 33 gene DOID:4362 cervical cancer ISO RGD:1602211 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8708441 Ccdc33 coiled-coil domain containing 33 gene DOID:4947 cholangiocarcinoma ISO RGD:1602211 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 8708441 Ccdc33 coiled-coil domain containing 33 gene DOID:5041 esophageal cancer ISO RGD:1602211 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8708441 Ccdc33 coiled-coil domain containing 33 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1602211 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8708441 Ccdc33 coiled-coil domain containing 33 gene DOID:9256 colorectal cancer ISO RGD:1602211 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colorectal cancer 8708520 Slain1 SLAIN family member 1 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1603921 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8708520 Slain1 SLAIN family member 1 gene DOID:11054 urinary bladder cancer ISO RGD:1603921 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8708520 Slain1 SLAIN family member 1 gene DOID:1115 sarcoma ISO RGD:1603921 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8708520 Slain1 SLAIN family member 1 gene DOID:1324 lung cancer ISO RGD:1603921 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8708520 Slain1 SLAIN family member 1 gene DOID:234 colon adenocarcinoma ISO RGD:1603921 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8708520 Slain1 SLAIN family member 1 gene DOID:3275 thymoma ISO RGD:1603921 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8708520 Slain1 SLAIN family member 1 gene DOID:4362 cervical cancer ISO RGD:1603921 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8708520 Slain1 SLAIN family member 1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1603921 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8708520 Slain1 SLAIN family member 1 gene DOID:6171 uterine carcinosarcoma ISO RGD:1603921 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8708539 Tex13b testis expressed 13B gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1347068 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8708546 Catsperg cation channel sperm associated auxiliary subunit gamma gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1322128 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8708546 Catsperg cation channel sperm associated auxiliary subunit gamma gene DOID:10534 stomach cancer ISO RGD:1322128 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8708546 Catsperg cation channel sperm associated auxiliary subunit gamma gene DOID:11054 urinary bladder cancer ISO RGD:1322128 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8708546 Catsperg cation channel sperm associated auxiliary subunit gamma gene DOID:1115 sarcoma ISO RGD:1322128 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8708546 Catsperg cation channel sperm associated auxiliary subunit gamma gene DOID:3275 thymoma ISO RGD:1322128 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8708546 Catsperg cation channel sperm associated auxiliary subunit gamma gene DOID:4362 cervical cancer ISO RGD:1322128 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8708546 Catsperg cation channel sperm associated auxiliary subunit gamma gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1322128 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8708546 Catsperg cation channel sperm associated auxiliary subunit gamma gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1322128 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8708577 Triqk triple QxxK/R motif containing gene DOID:1115 sarcoma ISO RGD:2299991 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8708577 Triqk triple QxxK/R motif containing gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:2299991 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8708577 Triqk triple QxxK/R motif containing gene DOID:9004083 Familial Pancreatic Carcinoma ISO RGD:2299991 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial pancreatic carcinoma 8708577 Triqk triple QxxK/R motif containing gene DOID:9119 acute myeloid leukemia ISO RGD:2299991 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8708601 Jade2 jade family PHD finger 2 gene DOID:12849 autistic disorder ISO RGD:1319333 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Autistic behavior 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:9008086 Developmental Disabilities ISO RGD:1319333 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Global developmental delay 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:0050939 uterine corpus endometrial carcinoma ISO RGD:1345439 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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 20260519 ClinVar ClinVar Annotator: match by term: Autosomal dominant macrothrombocytopenia TUBB1-related | ClinVar Annotator: match by term: MACROTHROMBOCYTOPENIA, ISOLATED, 1, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Macrothrombocytopenia, isolated, 1, autosomal dominant | ClinVar Annotator: match by term: TUBB1-related condition | ClinVar Annotator: match by term: macrothrombocytopenia, isolated, 1, autosomal dominant PMID:18849486|PMID:24344610|PMID:25741868|PMID:27479822|PMID:27905099|PMID:28492532|PMID:28983057|PMID:30446499|PMID:30854628|PMID:31064749|PMID:31565851|PMID:31642429|PMID:32757236|PMID:32892537|PMID:33400601|PMID:34355501|PMID:34516618|PMID:34662886|PMID:36218086|PMID:37792884|PMID:38735735|PMID:40071799|PMID:4516618 8708639 Tubb1 tubulin beta 1 class VI gene DOID:10534 stomach cancer ISO RGD:1345439 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8708639 Tubb1 tubulin beta 1 class VI gene DOID:12531 von Willebrand's disease ISO RGD:1345439 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: von Willebrand disease PMID:25741868 8708639 Tubb1 tubulin beta 1 class VI gene DOID:1588 thrombocytopenia ISO RGD:1345439 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thrombocytopenia | ClinVar Annotator: match by term: thrombocytopenia PMID:24777453|PMID:25741868|PMID:27346686|PMID:28054583|PMID:28492532|PMID:31064749|PMID:31249973|PMID:32757236|PMID:34355501|PMID:34516618 8708639 Tubb1 tubulin beta 1 class VI gene DOID:2213 hemorrhagic disease ISO RGD:1345439 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:32935436 8708639 Tubb1 tubulin beta 1 class VI gene DOID:3275 thymoma ISO RGD:1345439 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8708639 Tubb1 tubulin beta 1 class VI gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1345439 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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 8708639 Tubb1 tubulin beta 1 class VI gene DOID:9008952 Breast Cancer, Familial ISO RGD:1345439 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Breast cancer, familial 8708647 Gda guanine deaminase gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:734048 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8708647 Gda guanine deaminase gene DOID:10534 stomach cancer ISO RGD:734048 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8708647 Gda guanine deaminase gene DOID:1115 sarcoma ISO RGD:734048 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8708647 Gda guanine deaminase gene DOID:1324 lung cancer ISO RGD:734048 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8708647 Gda guanine deaminase gene DOID:1909 melanoma ISO RGD:734048 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8708647 Gda guanine deaminase gene DOID:234 colon adenocarcinoma ISO RGD:734048 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 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:3070 high grade glioma ISO RGD:734048 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Glioma susceptibility 1 8708647 Gda guanine deaminase gene DOID:4074 pancreatic adenocarcinoma ISO RGD:734048 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma 8708647 Gda guanine deaminase gene DOID:4362 cervical cancer ISO RGD:734048 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8708647 Gda guanine deaminase gene DOID:4467 clear cell renal cell carcinoma ISO RGD:734048 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 8708647 Gda guanine deaminase gene DOID:6171 uterine carcinosarcoma ISO RGD:734048 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 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 8708647 Gda guanine deaminase gene DOID:9119 acute myeloid leukemia ISO RGD:734048 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 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 8708707 Ears2 glutamyl-tRNA synthetase 2, mitochondrial gene DOID:0050117 disease by infectious agent ISO RGD:1604541 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Recurrent infections PMID:22492562|PMID:27290639|PMID:28492532|PMID:33962821 8708707 Ears2 glutamyl-tRNA synthetase 2, mitochondrial gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1604541 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8708707 Ears2 glutamyl-tRNA synthetase 2, mitochondrial gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1604541 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8708707 Ears2 glutamyl-tRNA synthetase 2, mitochondrial gene DOID:0060046 aphasia ISO RGD:1604541 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Aphasia PMID:22492562|PMID:23427196|PMID:25741868|PMID:28492532|PMID:28973083|PMID:32887222|PMID:33128823|PMID:33962821|PMID:33972171 8708707 Ears2 glutamyl-tRNA synthetase 2, mitochondrial gene DOID:0110784 hereditary spastic paraplegia 33 ISO RGD:1604541 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Spastic tetraparesis PMID:22492562|PMID:23427196|PMID:25741868|PMID:28492532|PMID:28973083|PMID:32887222|PMID:33128823|PMID:33962821|PMID:33972171 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 sequence 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 20260616 ClinVar ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12 | ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 12 | ClinVar Annotator: match by term: EARS2-related condition | ClinVar Annotator: match by term: Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome PMID:22492562|PMID:23427196|PMID:24706556|PMID:25476837|PMID:25741868|PMID:26741492|PMID:26780086|PMID:27117034|PMID:27290639|PMID:28492532|PMID:28748214|PMID:28973083|PMID:30831263|PMID:31520968|PMID:31665838|PMID:31980526|PMID:32887222|PMID:33128823|PMID:33258288|PMID:33962821|PMID:33972171|PMID:34018027|PMID:34440436|PMID:37377599|PMID:37597066|PMID:38129218|PMID:38465286|PMID:39173847 8708707 Ears2 glutamyl-tRNA synthetase 2, mitochondrial gene DOID:10534 stomach cancer ISO RGD:1604541 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8708707 Ears2 glutamyl-tRNA synthetase 2, mitochondrial gene DOID:10907 microcephaly ISO RGD:1604541 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:22492562|PMID:23427196|PMID:25741868|PMID:28492532|PMID:28973083|PMID:32887222|PMID:33128823|PMID:33962821|PMID:33972171 8708707 Ears2 glutamyl-tRNA synthetase 2, mitochondrial gene DOID:1115 sarcoma ISO RGD:1604541 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8708707 Ears2 glutamyl-tRNA synthetase 2, mitochondrial gene DOID:11830 myopia ISO RGD:1604541 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Myopia PMID:22492562|PMID:27290639|PMID:28492532|PMID:33962821 8708707 Ears2 glutamyl-tRNA synthetase 2, mitochondrial gene DOID:1596 depressive disorder ISO RGD:1604541 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Depression PMID:22492562|PMID:27290639|PMID:28492532|PMID:33962821 8708707 Ears2 glutamyl-tRNA synthetase 2, mitochondrial gene DOID:2303 stereotypic movement disorder ISO RGD:1604541 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Stereotypic movement disorder PMID:22492562|PMID:27290639|PMID:28492532|PMID:33962821 8708707 Ears2 glutamyl-tRNA synthetase 2, mitochondrial gene DOID:2468 psychotic disorder ISO RGD:1604541 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Psychotic disorder PMID:22492562|PMID:27290639|PMID:28492532|PMID:33962821 8708707 Ears2 glutamyl-tRNA synthetase 2, mitochondrial gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1604541 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8708707 Ears2 glutamyl-tRNA synthetase 2, mitochondrial gene DOID:630 genetic disease ISO RGD:1604541 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8708707 Ears2 glutamyl-tRNA synthetase 2, mitochondrial gene DOID:700 mitochondrial metabolism disease ISO RGD:1604541 D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: mitochondrial disease PMID:25741868|PMID:28492532|PMID:28748214|PMID:28748215|PMID:31680123 8708707 Ears2 glutamyl-tRNA synthetase 2, mitochondrial gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1604541 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:22492562|PMID:27290639|PMID:28492532|PMID:33962821 8708707 Ears2 glutamyl-tRNA synthetase 2, mitochondrial gene DOID:9000808 Hypercholesterolemia ISO RGD:1604541 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia PMID:22492562|PMID:27290639|PMID:28492532|PMID:33962821 8708707 Ears2 glutamyl-tRNA synthetase 2, mitochondrial gene DOID:9001733 Tinnitus ISO RGD:1604541 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Tinnitus PMID:22492562|PMID:27290639|PMID:28492532|PMID:33962821 8708707 Ears2 glutamyl-tRNA synthetase 2, mitochondrial gene DOID:9002775 Cognitive Dysfunction ISO RGD:1604541 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cognitive impairment PMID:22492562|PMID:27290639|PMID:28492532|PMID:33962821 8708707 Ears2 glutamyl-tRNA synthetase 2, mitochondrial gene DOID:9003126 Hallucinations ISO RGD:1604541 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hallucinations PMID:22492562|PMID:27290639|PMID:28492532|PMID:33962821 8708707 Ears2 glutamyl-tRNA synthetase 2, mitochondrial gene DOID:9003539 Hyperacusis ISO RGD:1604541 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hyperacusis PMID:22492562|PMID:27290639|PMID:28492532|PMID:33962821 8708707 Ears2 glutamyl-tRNA synthetase 2, mitochondrial gene DOID:9004062 Hyperhidrosis ISO RGD:1604541 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hyperhidrosis PMID:22492562|PMID:27290639|PMID:28492532|PMID:33962821 8708707 Ears2 glutamyl-tRNA synthetase 2, mitochondrial gene DOID:9004665 Pectus Carinatum ISO RGD:1604541 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Pectus carinatum PMID:22492562|PMID:27290639|PMID:28492532|PMID:33962821 8708707 Ears2 glutamyl-tRNA synthetase 2, mitochondrial gene DOID:9005077 Joint Instability ISO RGD:1604541 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Joint hypermobility PMID:22492562|PMID:27290639|PMID:28492532|PMID:33962821 8708707 Ears2 glutamyl-tRNA synthetase 2, mitochondrial gene DOID:9005603 Muscle Hypotonia ISO RGD:1604541 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Generalized hypotonia 8708707 Ears2 glutamyl-tRNA synthetase 2, mitochondrial gene DOID:9008023 Memory Disorders ISO RGD:1604541 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Memory impairment PMID:22492562|PMID:27290639|PMID:28492532|PMID:33962821 8708735 Cep63 centrosomal protein 63 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1602096 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 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:0050939 uterine corpus endometrial carcinoma ISO RGD:1602096 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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:10907 microcephaly ISO RGD:1602096 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Microcephaly 8708735 Cep63 centrosomal protein 63 gene DOID:11054 urinary bladder cancer ISO RGD:1602096 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8708735 Cep63 centrosomal protein 63 gene DOID:2340 craniosynostosis ISO RGD:1602096 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Trigonocephaly 8708735 Cep63 centrosomal protein 63 gene DOID:4362 cervical cancer ISO RGD:1602096 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8708735 Cep63 centrosomal protein 63 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1602096 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 8708735 Cep63 centrosomal protein 63 gene DOID:4947 cholangiocarcinoma ISO RGD:1602096 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 8708735 Cep63 centrosomal protein 63 gene DOID:5041 esophageal cancer ISO RGD:1602096 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8708735 Cep63 centrosomal protein 63 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1602096 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8708735 Cep63 centrosomal protein 63 gene DOID:6171 uterine carcinosarcoma ISO RGD:1602096 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8708735 Cep63 centrosomal protein 63 gene DOID:630 genetic disease ISO RGD:1602096 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8708735 Cep63 centrosomal protein 63 gene DOID:9000123 Deglutition Disorders ISO RGD:1602096 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Dysphagia PMID:25741868|PMID:28492532 8708735 Cep63 centrosomal protein 63 gene DOID:9005367 Arachnodactyly ISO RGD:1602096 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Arachnodactyly PMID:21983783|PMID:23936128|PMID:26158450|PMID:28492532 8708735 Cep63 centrosomal protein 63 gene DOID:9005616 Micrognathism ISO RGD:1602096 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Micrognathia 8708735 Cep63 centrosomal protein 63 gene DOID:9008675 Dyskinesias ISO RGD:1602096 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Dyskinesia 8708735 Cep63 centrosomal protein 63 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1602096 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8708772 Amotl1 angiomotin like 1 gene DOID:10534 stomach cancer ISO RGD:1313196 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8708772 Amotl1 angiomotin like 1 gene DOID:11054 urinary bladder cancer ISO RGD:1313196 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8708772 Amotl1 angiomotin like 1 gene DOID:1882 atrial heart septal defect ISO RGD:1313196 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Atrial septal defect 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:5041 esophageal cancer ISO RGD:1313196 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8708772 Amotl1 angiomotin like 1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1313196 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8708772 Amotl1 angiomotin like 1 gene DOID:6171 uterine carcinosarcoma ISO RGD:1313196 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8708772 Amotl1 angiomotin like 1 gene DOID:6419 tetralogy of Fallot ISO RGD:1313196 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Tetralogy of Fallot 8708772 Amotl1 angiomotin like 1 gene DOID:674 cleft palate ISO RGD:1313196 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cleft palate PMID:36751037 8708772 Amotl1 angiomotin like 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1313196 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 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 8708772 Amotl1 angiomotin like 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:1313196 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hypotonia PMID:36751037 8708772 Amotl1 angiomotin like 1 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1313196 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8708772 Amotl1 angiomotin like 1 gene DOID:9009355 Craniofaciocardiohepatic syndrome ISO RGD:1313196 D RGD:7240710 20250730 OMIM 8708772 Amotl1 angiomotin like 1 gene DOID:9009355 Craniofaciocardiohepatic syndrome ISO RGD:1313196 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: CRANIOFACIOCARDIOHEPATIC SYNDROME | ClinVar Annotator: match by term: Craniofaciocardiohepatic syndrome PMID:25741868|PMID:28492532|PMID:30375152|PMID:36116699|PMID:36751037 8708772 Amotl1 angiomotin like 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1313196 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8708824 Itm2c integral membrane protein 2C gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1319877 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8708824 Itm2c integral membrane protein 2C gene DOID:10534 stomach cancer ISO RGD:1319877 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8708824 Itm2c integral membrane protein 2C gene DOID:11054 urinary bladder cancer ISO RGD:1319877 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8708824 Itm2c integral membrane protein 2C gene DOID:1115 sarcoma ISO RGD:1319877 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8708824 Itm2c integral membrane protein 2C gene DOID:1324 lung cancer ISO RGD:1319877 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8708824 Itm2c integral membrane protein 2C gene DOID:1909 melanoma ISO RGD:1319877 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8708824 Itm2c integral membrane protein 2C gene DOID:4362 cervical cancer ISO RGD:1319877 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8708824 Itm2c integral membrane protein 2C gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1319877 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8708824 Itm2c integral membrane protein 2C gene DOID:684 hepatocellular carcinoma ISO RGD:1319877 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8708824 Itm2c integral membrane protein 2C gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1319877 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8708824 Itm2c integral membrane protein 2C gene DOID:9008952 Breast Cancer, Familial ISO RGD:1319877 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8708824 Itm2c integral membrane protein 2C gene DOID:9119 acute myeloid leukemia ISO RGD:1319877 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8708842 Pecr peroxisomal trans-2-enoyl-CoA reductase gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1603637 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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:4074 pancreatic adenocarcinoma ISO RGD:1603637 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma 8708842 Pecr peroxisomal trans-2-enoyl-CoA reductase gene DOID:684 hepatocellular carcinoma ISO RGD:1603637 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8708842 Pecr peroxisomal trans-2-enoyl-CoA reductase gene DOID:9005024 Hereditary Adrenocortical Carcinoma ISO RGD:1603637 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary 8708842 Pecr peroxisomal trans-2-enoyl-CoA reductase gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1603637 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8708859 Emid1 EMI domain containing 1 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1349411 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8708859 Emid1 EMI domain containing 1 gene DOID:1115 sarcoma ISO RGD:1349411 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8708859 Emid1 EMI domain containing 1 gene DOID:1324 lung cancer ISO RGD:1349411 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8708859 Emid1 EMI domain containing 1 gene DOID:1909 melanoma ISO RGD:1349411 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8708859 Emid1 EMI domain containing 1 gene DOID:3275 thymoma ISO RGD:1349411 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8708859 Emid1 EMI domain containing 1 gene DOID:4362 cervical cancer ISO RGD:1349411 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8708859 Emid1 EMI domain containing 1 gene DOID:5041 esophageal cancer ISO RGD:1349411 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8708859 Emid1 EMI domain containing 1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1349411 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8708859 Emid1 EMI domain containing 1 gene DOID:6171 uterine carcinosarcoma ISO RGD:1349411 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8708859 Emid1 EMI domain containing 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1349411 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8708859 Emid1 EMI domain containing 1 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1349411 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8708859 Emid1 EMI domain containing 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1349411 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8708859 Emid1 EMI domain containing 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1349411 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8708903 Ndst4 N-deacetylase and N-sulfotransferase 4 gene DOID:1909 melanoma ISO RGD:1315201 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8708903 Ndst4 N-deacetylase and N-sulfotransferase 4 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1315201 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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:0050387 nonpapillary renal cell carcinoma ISO RGD:1320324 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 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:10534 stomach cancer ISO RGD:1320324 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8708921 Polq DNA polymerase theta gene DOID:11054 urinary bladder cancer ISO RGD:1320324 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8708921 Polq DNA polymerase theta gene DOID:1115 sarcoma ISO RGD:1320324 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8708921 Polq DNA polymerase theta gene DOID:1324 lung cancer ISO RGD:1320324 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8708921 Polq DNA polymerase theta gene DOID:1612 breast cancer ISO RGD:1320324 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:25741868 8708921 Polq DNA polymerase theta gene DOID:1909 melanoma ISO RGD:1320324 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8708921 Polq DNA polymerase theta gene DOID:234 colon adenocarcinoma ISO RGD:1320324 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8708921 Polq DNA polymerase theta gene DOID:3275 thymoma ISO RGD:1320324 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 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:4362 cervical cancer ISO RGD:1320324 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8708921 Polq DNA polymerase theta gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1320324 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 8708921 Polq DNA polymerase theta gene DOID:4947 cholangiocarcinoma ISO RGD:1320324 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 8708921 Polq DNA polymerase theta gene DOID:5041 esophageal cancer ISO RGD:1320324 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8708921 Polq DNA polymerase theta gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1320324 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 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 ovarian cancer syndrome PMID:25741868 8708921 Polq DNA polymerase theta gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1320324 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8708921 Polq DNA polymerase theta gene DOID:6171 uterine carcinosarcoma ISO RGD:1320324 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8708921 Polq DNA polymerase theta gene DOID:684 hepatocellular carcinoma ISO RGD:1320324 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8708921 Polq DNA polymerase theta gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1320324 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8708921 Polq DNA polymerase theta gene DOID:9008952 Breast Cancer, Familial ISO RGD:1320324 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8708921 Polq DNA polymerase theta gene DOID:9119 acute myeloid leukemia ISO RGD:1320324 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 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:0050117 disease by infectious agent ISO RGD:1606040 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Recurrent infections PMID:25741868 8708960 Atm ATM serine/threonine kinase gene DOID:0050581 brachydactyly ISO RGD:1606040 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Brachydactyly PMID:10425038|PMID:14754616|PMID:15101044|PMID:15280931|PMID:16574953|PMID:16652348|PMID:17000706|PMID:17341484|PMID:17351744|PMID:17502119|PMID:20826828|PMID:21833744|PMID:22529920|PMID:23585524|PMID:24728327|PMID:25085752|PMID:25741868|PMID:26467025|PMID:27146902|PMID:27224988|PMID:27365426|PMID:28492532|PMID:33191115|PMID:37091313|PMID:9792409 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 20260602 ClinVar ClinVar Annotator: match by term: MANTLE CELL LYMPHOMA, SOMATIC 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 20260519 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia | ClinVar Annotator: match by term: Dysmetria PMID:11889466|PMID:12810666|PMID:12815592|PMID:14695534|PMID:19773425|PMID:22213089|PMID:23807571|PMID:25614872|PMID:25741868|PMID:28488180|PMID:28492532|PMID:31050087|PMID:31611883|PMID:33547824|PMID:34628594|PMID:9887333 8708960 Atm ATM serine/threonine kinase gene DOID:0050835 generalized dystonia ISO RGD:1606040 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Generalized dystonia PMID:23807571|PMID:25614872|PMID:25741868|PMID:28492532|PMID:30262796|PMID:8659541|PMID:9150358 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:0050939 uterine corpus endometrial carcinoma ISO RGD:1606040 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8708960 Atm ATM serine/threonine kinase gene DOID:0051064 left ventricular failure ISO RGD:1606040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24358288 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:0060249 scoliosis ISO RGD:1606040 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Scoliosis PMID:11889466|PMID:12815592|PMID:14695534|PMID:19773425|PMID:22213089|PMID:25741868|PMID:28492532|PMID:31611883|PMID:9887333 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: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:0080410 familial adenomatous polyposis 2 ISO RGD:1606040 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 2 PMID:10397742|PMID:10425038|PMID:10817650|PMID:11298136|PMID:11443540|PMID:11606401|PMID:11996792|PMID:12473594|PMID:12815592|PMID:15042666|PMID:15280931|PMID:15756685|PMID:16631465|PMID:17124347|PMID:17351744|PMID:17393301|PMID:18701470|PMID:19404735|PMID:19638463|PMID:19781682|PMID:21933854|PMID:23322442|PMID:23585524|PMID:24416720|PMID:24728327|PMID:25741868|PMID:26467025|PMID:26898890|PMID:27153395|PMID:27782108|PMID:28202063|PMID:28492532|PMID:28779002|PMID:29478780|PMID:31050087|PMID:31382929|PMID:32522261|PMID:33280026|PMID:33471991|PMID:34009545|PMID:34204722|PMID:34262154|PMID:34308104|PMID:34686943|PMID:36315919|PMID:8845835|PMID:9872980|PMID:9887333 8708960 Atm ATM serine/threonine kinase gene DOID:0080684 diffuse midline glioma, H3 K27-altered ISO RGD:1606040 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Diffuse midline glioma, H3 K27-altered PMID:25741868|PMID:28492532|PMID:28652578|PMID:30279689|PMID:30287823|PMID:31214711|PMID:33436325|PMID:33471991|PMID:34262154|PMID:34326862|PMID:36243179 8708960 Atm ATM serine/threonine kinase gene DOID:0080855 Parkinsonism ISO RGD:1606040 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Parkinsonian disorder PMID:23807571|PMID:25614872|PMID:25741868|PMID:28492532|PMID:30262796|PMID:8659541|PMID:9150358 8708960 Atm ATM serine/threonine kinase gene DOID:0081042 T-cell prolymphocytic leukemia ISO RGD:1606040 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: T-CELL PROLYMPHOCYTIC LEUKEMIA, SOMATIC PMID:23807571|PMID:25614872|PMID:25741868|PMID:28492532 8708960 Atm ATM serine/threonine kinase gene DOID:0110636 congenital merosin-deficient muscular dystrophy 1A ISO RGD:9833910 D RGD:9068941 20250724 ClinVar ClinVar Annotator: match by term: Laminin alpha 2-related dystrophy 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:34326862|PMID:35264596|PMID:35534704|PMID:35957908|PMID:37436117 8708960 Atm ATM serine/threonine kinase gene DOID:10155 intestinal cancer ISO RGD:1606040 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Intestinal cancer PMID:11606401|PMID:12149228|PMID:12473594|PMID:12697903|PMID:12810666|PMID:14735203|PMID:17490827|PMID:20305132|PMID:21787400|PMID:21792198|PMID:22213089|PMID:22529920|PMID:22995991|PMID:23114601|PMID:23555315|PMID:23810757|PMID:24142997|PMID:24695838|PMID:24728327|PMID:24834793|PMID:25085752|PMID:25318351|PMID:25479140|PMID:25587027|PMID:25625042|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26123645|PMID:26467025|PMID:26787654|PMID:26917275|PMID:27150160|PMID:27375234|PMID:27568332|PMID:28492532|PMID:32986223|PMID:33134171|PMID:33181636|PMID:33280026|PMID:38002934 8708960 Atm ATM serine/threonine kinase gene DOID:10283 prostate cancer ISO RGD:1606040 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate | ClinVar Annotator: match by term: Prostate cancer | ClinVar Annotator: match by term: cancer prostate PMID:10397742|PMID:10817650|PMID:11443540|PMID:11606401|PMID:11996792|PMID:12149228|PMID:12473594|PMID:12697903|PMID:12810666|PMID:14735203|PMID:15042666|PMID:15280931|PMID:15756685|PMID:16631465|PMID:17124347|PMID:17351744|PMID:17393301|PMID:17490827|PMID:18701470|PMID:19404735|PMID:19638463|PMID:19781682|PMID:20305132|PMID:21787400|PMID:21792198|PMID:22213089|PMID:22529920|PMID:22995991|PMID:23114601|PMID:23555315|PMID:23585524|PMID:23807571|PMID:23810757|PMID:24142997|PMID:24416720|PMID:24695838|PMID:24728327|PMID:24834793|PMID:25085752|PMID:25318351|PMID:25479140|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26123645|PMID:26467025|PMID:26787654|PMID:26898890|PMID:26917275|PMID:27150160|PMID:27153395|PMID:27375234|PMID:27568332|PMID:27782108|PMID:28202063|PMID:28492532|PMID:31382929|PMID:32522261|PMID:32986223|PMID:33134171|PMID:33181636|PMID:33280026|PMID:34009545|PMID:38002934|PMID:9872980|PMID:9887333 8708960 Atm ATM serine/threonine kinase gene DOID:10534 stomach cancer ISO RGD:1606040 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer PMID:10330348|PMID:12552559|PMID:20840352|PMID:21665257|PMID:21778326|PMID:22006793|PMID:23807571|PMID:25614872|PMID:25741868|PMID:26896183|PMID:27989354|PMID:28492532|PMID:28724667|PMID:28779002|PMID:29368341|PMID:29478780|PMID:29522266|PMID:29641532|PMID:29909963|PMID:30287823|PMID:30607632|PMID:30697212|PMID:30816533|PMID:31050087|PMID:31472684|PMID:31611883|PMID:31794323|PMID:32091409|PMID:32427313|PMID:32521533|PMID:32962506|PMID:33471991|PMID:36988593 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 20260519 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:11889466|PMID:12815592|PMID:14695534|PMID:19773425|PMID:22213089|PMID:25741868|PMID:28492532|PMID:31611883|PMID:9887333 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 20260602 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:19781682|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30287823|PMID:31871109|PMID:32068069|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 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder PMID:23807571|PMID:25614872|PMID:25741868|PMID:28492532|PMID:30607632 8708960 Atm ATM serine/threonine kinase gene DOID:1115 sarcoma ISO RGD:1606040 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma PMID:25741868|PMID:26467025|PMID:28054583|PMID:28492532|PMID:33280026 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:11830 myopia ISO RGD:1606040 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Myopia PMID:19781682|PMID:20305132|PMID:25741868|PMID:26898890|PMID:28492532|PMID:33436325|PMID:33471991|PMID:34008015 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 20260520 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: 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: 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:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20250408 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: 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: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: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 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20250408 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: Louis-Bar syndrome 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: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 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20250408 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: Louis-Bar syndrome 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|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:32366930|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:33758026|PMID:33779842|PMID:33785725|PMID:33804961|PMID:33840814|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 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20250408 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: Louis-Bar syndrome PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|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:35076389|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:35982159|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:36161273|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:37201465|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:38496821|PMID:38509102|PMID:38520597|PMID:38570878|PMID:38697030|PMID:38854973|PMID:38874686|PMID:39077936|PMID:39085400|PMID:39138584|PMID:39226054|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:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20250506 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:12610666|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:17670065|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:20054297|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:21732128|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 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20250506 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:22250480|PMID:22345219|PMID:22354567|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|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:24120057|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:24726177|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 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20250506 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:27621404|PMID:27659017|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|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:28590052|PMID:28591191|PMID:28608266|PMID:28625278|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:31159474|PMID:31159747 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20250506 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: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|PMID:31470354|PMID:31472684|PMID:31497750|PMID:3149931|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31626222|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:32366930|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:33758026|PMID:33779842|PMID:33785725|PMID:33804961|PMID:33840814|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:34387910|PMID:34399810|PMID:34401606|PMID:34426522|PMID:34433815|PMID:34445196 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20250506 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: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: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:35076389|PMID:35078243|PMID:35078817|PMID:35085662|PMID:35095854|PMID:35098669|PMID:35127508|PMID:35145272|PMID:35145552|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35171529|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:35982159|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:36161273|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:37201465|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:37930190|PMID:38003901|PMID:38017116|PMID:38028594|PMID:38136308|PMID:38147532|PMID:38153744|PMID:38156855|PMID:38201484|PMID:38313678|PMID:38355628|PMID:38489015|PMID:38496821|PMID:38509102|PMID:38520597|PMID:38570878|PMID:38697030|PMID:38854973|PMID:38874686|PMID:39077936|PMID:39085400|PMID:39138584|PMID:39226054|PMID:39256447|PMID:39272813|PMID:39636577|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:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20250701 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:12610666|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:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17632790|PMID:17640065|PMID:17670065|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:20054297|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:21732128|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 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20250708 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: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|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: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 20250708 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: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:27959900|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:28625278|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:30885352|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:31131953|PMID:31139954|PMID:31159474|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20250708 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: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|PMID:31470354|PMID:31472684|PMID:31497750|PMID:3149931|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31626222|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:31745173|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:32366930|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:32802943|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:33083949|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:33296026|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:33649982|PMID:33742106|PMID:33747920|PMID:33750258|PMID:33758026|PMID:33779842|PMID:33785725|PMID:33804961|PMID:33840814|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:34282249|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:34404412|PMID:34426522 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20250708 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: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:34653365|PMID:34653963|PMID:34654685|PMID:34659905|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34718612|PMID:34754157|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:35076389|PMID:35078243|PMID:35078817|PMID:35085662|PMID:35095854|PMID:35098669|PMID:35127508|PMID:35145272|PMID:35145552|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35171529|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:35358259|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:35729272|PMID:35734982|PMID:35763645|PMID:35777164|PMID:35806449|PMID:35884425|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:35982159|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:36161273|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:36563937|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:37201465|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:37540892|PMID:37581139|PMID:37591896|PMID:37628581|PMID:37656691|PMID:37712079|PMID:37762649|PMID:37833309|PMID:37930190|PMID:38003901|PMID:38017116|PMID:38028594|PMID:38049230|PMID:38118367|PMID:38136308|PMID:38147532|PMID:38153744|PMID:38156855|PMID:38201484|PMID:38313678|PMID:38327652|PMID:38354330|PMID:38355628|PMID:38404774|PMID:38415270|PMID:38439815|PMID:38489015|PMID:38496821|PMID:38509102|PMID:38520597|PMID:38522067|PMID:38570878|PMID:38673061|PMID:38697030|PMID:38734904|PMID:38843839|PMID:38854136|PMID:38854973|PMID:38874686|PMID:38896321|PMID:38917355|PMID:39021548|PMID:39077936|PMID:39085400|PMID:39122510|PMID:39138584|PMID:39226054|PMID:39256447|PMID:39272813|PMID:39636577|PMID:39825153|PMID:40105422|PMID:4012663|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 20250722 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11821961|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12105990|PMID:12149228|PMID:12362033|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12552559|PMID:12552566|PMID:12610666|PMID:12637545|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:1300551|PMID:133608|PMID:14562025|PMID:14634505|PMID:14643952|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15196260|PMID:15217508|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|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:16167060|PMID:16189143|PMID:16199547|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001642|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17576681|PMID:17623063|PMID:17632790|PMID:17640065|PMID:17670065|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:18497957|PMID:18502988|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:1953577|PMID:19535770|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:19781682|PMID:19823873|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21164480|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21593342|PMID:21665257|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|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:22520355|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22763152|PMID:22869595|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23143971|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:23585524|PMID:23612382|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23726790|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23960188|PMID:24033266|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 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20250722 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:24568663|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24831771|PMID:24834793|PMID:24886963|PMID:2491181|PMID:24935205|PMID:24951259|PMID:24954719|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25122203|PMID:25148578|PMID:25159481|PMID:25186627|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25326635|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|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:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26207792|PMID:26214590|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26388441|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26619011|PMID:26628246|PMID:26635394|PMID:26658419|PMID:26662178|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|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: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:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27803004|PMID:27844328|PMID:27854218|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27980538|PMID:27989354|PMID:27994516|PMID:27997549|PMID:28008555|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28087566|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28182994|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|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:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28775315|PMID:28779002|PMID:28825054|PMID:28830922|PMID:28843361|PMID:28849312|PMID:28873162|PMID:28878254|PMID:28888541|PMID:28894253|PMID:28916186|PMID:28956312|PMID:28975465|PMID:29053726|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29144541|PMID:29271107|PMID:29308099|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|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:29596542|PMID:29600275|PMID:29615459|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29684080|PMID:29731985|PMID:29753700|PMID:29754934|PMID:29769598|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29895855|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29967250 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20250722 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:30062048|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30104763|PMID:30124550|PMID:30128536|PMID:30159786|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30262796|PMID:30274973|PMID:30279689|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30340782|PMID:30363071|PMID:30370249|PMID:30374176|PMID:30389154|PMID:30402232|PMID:30420857|PMID:30425284|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30537493|PMID:30541756|PMID:30543347|PMID:30549301|PMID:30550363|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30630526|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30824826|PMID:30833958|PMID:30883245|PMID:30888062|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31118792|PMID:31159474|PMID:31159747|PMID:31169336|PMID:31173964|PMID:31206626|PMID:31214711|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31300551|PMID:31317629|PMID:31341520|PMID:31350202|PMID:31360874|PMID:31382929|PMID:31403082|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:31626222|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31721094|PMID:31729406|PMID:31731261|PMID:31741144|PMID:31742824|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|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:31942411|PMID:31948886|PMID:31970404|PMID:32005694|PMID:32012241|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32125938|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:32368696|PMID:32371905|PMID:32383162|PMID:32427313|PMID:32461654|PMID:32488064|PMID:32508039|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32581083|PMID:32606146|PMID:32624572|PMID:32658311|PMID:32659497|PMID:32694154|PMID:32710489|PMID:32720237|PMID:32748564|PMID:32756499|PMID:32761968|PMID:32775531|PMID:32802943|PMID:3280694|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32866190|PMID:32866655|PMID:32868316|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32962506|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33003326|PMID:33047316|PMID:33050356|PMID:33083949|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33168809|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33203166|PMID:33206719|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33359728|PMID:33365035|PMID:33376610|PMID:33383211|PMID:33395407|PMID:33415580|PMID:33421217|PMID:33429865|PMID:33436325|PMID:33462019|PMID:33471191|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33525650|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33598286|PMID:33606809|PMID:33624863|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33758026|PMID:33779842|PMID:33785725|PMID:33804961|PMID:33840814|PMID:33850299|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33940787|PMID:33980423|PMID:34008015|PMID:34009545|PMID:34107524|PMID:34196900|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34283047|PMID:34284872|PMID:34299313|PMID:34301788|PMID:34308104|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34371384 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20250722 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:34377931|PMID:34399810|PMID:34401606|PMID:34404412|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34477817|PMID:34489640|PMID:34539671|PMID:34573280|PMID:34582042|PMID:34628594|PMID:34646395|PMID:34653365|PMID:34654685|PMID:34659905|PMID:34754157|PMID:34791078|PMID:34820595|PMID:34824606|PMID:34884835|PMID:34994613|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35078817|PMID:35085662|PMID:35098669|PMID:35127508|PMID:35145272|PMID:35145552|PMID:35154108|PMID:35171259|PMID:35171529|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: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:35716007|PMID:35717579|PMID:35729272|PMID:35777164|PMID:35806449|PMID:35884425|PMID:35886069|PMID:35957908|PMID:35980532|PMID:35982159|PMID:36000185|PMID:36003761|PMID:36008414|PMID:36029002|PMID:36035419|PMID:36099812|PMID:36117189|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:36551643|PMID:36555667|PMID:36563937|PMID:36568162|PMID:36627197|PMID:36672847|PMID:36674612|PMID:36685941|PMID:36704080|PMID:36717774|PMID:36744932|PMID:36790564|PMID:36853301|PMID:36896836|PMID:36898365|PMID:36979741|PMID:36980780|PMID:36988593|PMID:37013556|PMID:37075885|PMID:37088804|PMID:37091313|PMID:37097610|PMID:37149759|PMID:37232349|PMID:37239058|PMID:37306523|PMID:37323311|PMID:37345735|PMID:37349538|PMID:37436117|PMID:37438524|PMID:37450374|PMID:37453313|PMID:37529773|PMID:37536918|PMID:37591896|PMID:37712079|PMID:37762649|PMID:37833309|PMID:38003901|PMID:38136308|PMID:38153744|PMID:38156855|PMID:38201484|PMID:38355628|PMID:38415270|PMID:38439815|PMID:38489015|PMID:38520597|PMID:38697030|PMID:38854136|PMID:38874686|PMID:39021548|PMID:39077936|PMID:39138584|PMID:39226054|PMID:39256447|PMID:39272813|PMID:39825153|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8968760|PMID:9043869|PMID:9121450|PMID:9150358|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450906|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: AT, COMPLEMENTATION GROUP C | ClinVar Annotator: match by term: ATAXIA-TELANGIECTASIA | ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia PMID:10234507|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10677309|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11298136|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11526498|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11849780|PMID:11889466|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12105990|PMID:12149228|PMID:12362033|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12552559|PMID:12552566|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:1300551|PMID:133608|PMID:14634505|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15196260|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15503472|PMID:15643608|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16029571|PMID:16112413|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:17000706|PMID:17001642|PMID:17124347|PMID:17203191|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17576681|PMID:17632790|PMID:17640065|PMID:17670065|PMID:17726045|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18164969|PMID:18174244|PMID:18321536|PMID:18384426|PMID:18431795|PMID:18497957|PMID:18502988|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:19018867|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:1953577|PMID:19535770|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19773425|PMID:19781682|PMID:19823873|PMID:20051774|PMID:20077034|PMID:20153123|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20981092|PMID:21164480|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21593342|PMID:21665257|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22006793|PMID:22071889|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22354567|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22520355|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22763152|PMID:22869595|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23055520|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23376243|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585524|PMID:23612382|PMID:23640770|PMID:23652012|PMID:23726790|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23960188|PMID:24033266|PMID:24090759|PMID:24142997|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24568663|PMID:24695838|PMID:24705252|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24831771|PMID:24834793|PMID:2491181|PMID:24951259|PMID:25037873|PMID:25040471|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25115387|PMID:25122203|PMID:25159481|PMID:25186627|PMID:25303977|PMID:25318351|PMID:25326635|PMID:25428789|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25525159|PMID:25587027|PMID:25589003|PMID:25589618|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25793145|PMID:25877891|PMID:25892863|PMID:25914063|PMID:25980754|PMID:26010451|PMID:26023681|PMID:26094658|PMID:26098866|PMID:26123645|PMID:26181193|PMID:26182300|PMID:26247737|PMID:26270727|PMID:26296701|PMID:26320869|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26635394|PMID:26658419|PMID:26667234|PMID:26681312|PMID:26689913 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: AT, COMPLEMENTATION GROUP C | ClinVar Annotator: match by term: ATAXIA-TELANGIECTASIA | ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia PMID:26718692|PMID:26771497|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26911350|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27097373|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27224988|PMID:27276934|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27871447|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27989354|PMID:27993330|PMID:28008555|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28182994|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28423363|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28843361|PMID:28849312|PMID:28873162|PMID:28888541|PMID:28894253|PMID:28912153|PMID:28916186|PMID:28966033|PMID:28975465|PMID:29053726|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29144541|PMID:29308099|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29470806|PMID:29478780|PMID:29486991|PMID:29489040|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29615459|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29684080|PMID:29753700|PMID:29758562|PMID:29763623|PMID:29769598|PMID:29895855|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29926184|PMID:29945567|PMID:29961768|PMID:29978950|PMID:30062048|PMID:30067863|PMID:30093976|PMID:30104763|PMID:30128536|PMID:30159786|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30256826|PMID:30262796|PMID:30279689|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30340782|PMID:30363071|PMID:30370249|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30420857|PMID:30426508|PMID:30441849|PMID:30482293|PMID:30549301|PMID:30563988|PMID:30579816|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30630526|PMID:30639167|PMID:30651582|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30716324|PMID:30772474|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30883245|PMID:30888062|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31069529|PMID:31159474|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31300551|PMID:31341520|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31470354|PMID:31472684|PMID:31497750|PMID:3149931|PMID:31589614|PMID:31611883|PMID:31626222|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31691010|PMID:31719806|PMID:31721094|PMID:31729406|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31788995|PMID:31794323|PMID:31815095|PMID:31843900|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31920950|PMID:31921190|PMID:31948886|PMID:31970404|PMID:32012241|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32125938|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32300177|PMID:32315455|PMID:32318955|PMID:32321774|PMID:32325837|PMID:32338768|PMID:32383162|PMID:32427313|PMID:32461654|PMID:32462469|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32581083|PMID:32624572|PMID:32658311|PMID:32694154|PMID:32726432|PMID:32748564|PMID:32756499|PMID:32761968|PMID:32775531|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32866655|PMID:32868316 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: AT, COMPLEMENTATION GROUP C | ClinVar Annotator: match by term: ATAXIA-TELANGIECTASIA | ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32957588|PMID:32959997|PMID:32962506|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33003326|PMID:33012025|PMID:33047316|PMID:33083949|PMID:33084218|PMID:33098801|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33359728|PMID:33376610|PMID:33395407|PMID:33429865|PMID:33436325|PMID:33462019|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33547824|PMID:33552952|PMID:33588785|PMID:33598286|PMID:33606809|PMID:33624863|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33758026|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33940787|PMID:34008015|PMID:34009545|PMID:34107524|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34337741|PMID:34371384|PMID:34401606|PMID:34404412|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34477998|PMID:34539671|PMID:34573280|PMID:34582042|PMID:34646395|PMID:34659905|PMID:34686943|PMID:34754157|PMID:34791078|PMID:34824606|PMID:35008949|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35076389|PMID:35078243|PMID:35101336|PMID:35127508|PMID:35145552|PMID:35154108|PMID:35155181|PMID:35171259|PMID:35171529|PMID:35218119|PMID:35220195|PMID:35245693|PMID:35257272|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35284771|PMID:35365198|PMID:35402282|PMID:35418818|PMID:35441217|PMID:35451682|PMID:35467778|PMID:35483985|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35585550|PMID:35586824|PMID:35626031|PMID:35652560|PMID:35716007|PMID:35717579|PMID:35719373|PMID:35729272|PMID:35734982|PMID:3574400|PMID:35884425|PMID:35886069|PMID:35980532|PMID:36000185|PMID:36003761|PMID:36029002|PMID:36035419|PMID:36099812|PMID:36117189|PMID:36132150|PMID:36135357|PMID:36139606|PMID:36179682|PMID:36243179|PMID:36290365|PMID:36315513|PMID:36315919|PMID:36329109|PMID:36346689|PMID:36387226|PMID:36446039|PMID:36547062|PMID:36627197|PMID:36674612|PMID:36704080|PMID:36744932|PMID:36765721|PMID:36790564|PMID:36853301|PMID:36896836|PMID:36898365|PMID:36988593|PMID:37075885|PMID:37091313|PMID:37097610|PMID:37149759|PMID:37232349|PMID:37323311|PMID:37345735|PMID:37436117|PMID:37438524|PMID:37450374|PMID:37802069|PMID:37833309|PMID:38002934|PMID:38003901|PMID:38091153|PMID:38136308|PMID:38153744|PMID:38156855|PMID:38201484|PMID:38355628|PMID:38439815|PMID:38489015|PMID:38520597|PMID:38854136|PMID:38874686|PMID:38917355|PMID:39021548|PMID:39052144|PMID:39077936|PMID:39272813|PMID:39427061|PMID:39521281|PMID:39590369|PMID:39825153|PMID:40115062|PMID:40161544|PMID:40403485|PMID:40446793|PMID:40565533|PMID:40580951|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8968760|PMID:9043869|PMID:9121450|PMID:9150358|PMID:9259193|PMID:9288106|PMID:9443866|PMID:9450906|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: AT, COMPLEMENTATION GROUP C | ClinVar Annotator: match by term: ATAXIA-TELANGIECTASIA | ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10464642|PMID:10677309|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11298136|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11526498|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11849780|PMID:11889466|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12105990|PMID:12149228|PMID:12362033|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12552559|PMID:12552566|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:1300551|PMID:133608|PMID:14634505|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15196260|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15503472|PMID:15643608|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16029571|PMID:16112413|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:17000706|PMID:17001642|PMID:17124347|PMID:17203191|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17576681|PMID:17632790|PMID:17640065|PMID:17670065|PMID:17726045|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18164969|PMID:18174244|PMID:18321536|PMID:18431795|PMID:18497957|PMID:18502988|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:19018867|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:1953577|PMID:19535770|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19773425|PMID:19781682|PMID:19823873|PMID:20051774|PMID:20077034|PMID:20153123|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20981092|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21593342|PMID:21665257|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22006793|PMID:22071889|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22354567|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22520355|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22763152|PMID:22869595|PMID:22927201|PMID:22927308|PMID:22995991|PMID:23055520|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23125224|PMID:23143971|PMID:23242139|PMID:23264026|PMID:23272087|PMID:23322442|PMID:23360865|PMID:23376243|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585524|PMID:23612382|PMID:23640770|PMID:23652012|PMID:23726790|PMID:23774824|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24090759|PMID:24142997|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24568663|PMID:24695838|PMID:24705252|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24831771|PMID:24834793|PMID:2491181|PMID:24951259|PMID:25037873|PMID:25040471|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25115387|PMID:25122203|PMID:25159481|PMID:25186627|PMID:25303977|PMID:25318351|PMID:25428789|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25525159|PMID:25587027|PMID:25589003|PMID:25589618|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25793145|PMID:25877891|PMID:25892863|PMID:25914063|PMID:25980754|PMID:26010451|PMID:26023681|PMID:26094658|PMID:26098866|PMID:26123645|PMID:26181193|PMID:26247737|PMID:26270727|PMID:26296701|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26635394|PMID:26658419|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26718692|PMID:26771497|PMID:26787654 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: AT, COMPLEMENTATION GROUP C | ClinVar Annotator: match by term: ATAXIA-TELANGIECTASIA | ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia PMID:26822949|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26911350|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27097373|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27224988|PMID:27276934|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468087|PMID:27479817|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27602502|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27871447|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27989354|PMID:27993330|PMID:28008555|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28182994|PMID:28202063|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28423363|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28598434|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28843361|PMID:28849312|PMID:28873162|PMID:28888541|PMID:28894253|PMID:28912153|PMID:28916186|PMID:28966033|PMID:28975465|PMID:29053726|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29144541|PMID:29308099|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29470806|PMID:29478780|PMID:29486991|PMID:29489040|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29615459|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29684080|PMID:29753700|PMID:29758562|PMID:29763623|PMID:29769598|PMID:29895855|PMID:29906526|PMID:29909963|PMID:29922827|PMID:29926184|PMID:29945567|PMID:29978950|PMID:30062048|PMID:30067863|PMID:30093976|PMID:30104763|PMID:30128536|PMID:30159786|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30256826|PMID:30262796|PMID:30279689|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30338439|PMID:30340782|PMID:30363071|PMID:30370249|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30420857|PMID:30426508|PMID:30441849|PMID:30482293|PMID:30549301|PMID:30563988|PMID:30579816|PMID:30607632|PMID:30613976|PMID:30625039|PMID:30630526|PMID:30639167|PMID:30651582|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30716324|PMID:30772474|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30883245|PMID:30888062|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31069529|PMID:31159474|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31300551|PMID:31341520|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31470354|PMID:31472684|PMID:31497750|PMID:3149931|PMID:31589614|PMID:31611883|PMID:31626222|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31691010|PMID:31719806|PMID:31721094|PMID:31729406|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31788995|PMID:31794323|PMID:31815095|PMID:31843900|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31920950|PMID:31921190|PMID:31948886|PMID:31970404|PMID:32012241|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32125938|PMID:32183364|PMID:32255556|PMID:32300177|PMID:32315455|PMID:32318955|PMID:32321774|PMID:32325837|PMID:32383162|PMID:32427313|PMID:32461654|PMID:32462469|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32581083|PMID:32624572|PMID:32658311|PMID:32694154|PMID:32726432|PMID:32748564|PMID:32756499|PMID:32761968|PMID:32775531|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32866655|PMID:32868316|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32957588|PMID:32959997|PMID:32962506|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33012025|PMID:33047316 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: AT, COMPLEMENTATION GROUP C | ClinVar Annotator: match by term: ATAXIA-TELANGIECTASIA | ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia PMID:33083949|PMID:33084218|PMID:33098801|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33359728|PMID:33376610|PMID:33395407|PMID:33429865|PMID:33436325|PMID:33462019|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33588785|PMID:33598286|PMID:33606809|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33940787|PMID:34008015|PMID:34009545|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34337741|PMID:34371384|PMID:34401606|PMID:34404412|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34477998|PMID:34539671|PMID:34573280|PMID:34582042|PMID:34646395|PMID:34659905|PMID:34686943|PMID:34754157|PMID:34791078|PMID:34824606|PMID:35008949|PMID:35039564|PMID:35047863|PMID:35076389|PMID:35078243|PMID:35101336|PMID:35127508|PMID:35145552|PMID:35154108|PMID:35155181|PMID:35171259|PMID:35171529|PMID:35218119|PMID:35220195|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35284771|PMID:35402282|PMID:35418818|PMID:35441217|PMID:35451682|PMID:35467778|PMID:35483985|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35585550|PMID:35586824|PMID:35626031|PMID:35652560|PMID:35716007|PMID:35717579|PMID:35719373|PMID:35729272|PMID:35734982|PMID:3574400|PMID:35884425|PMID:35886069|PMID:35980532|PMID:36000185|PMID:36003761|PMID:36008414|PMID:36029002|PMID:36035419|PMID:36099812|PMID:36117189|PMID:36132150|PMID:36135357|PMID:36139606|PMID:36179682|PMID:36243179|PMID:36290365|PMID:36315513|PMID:36315919|PMID:36329109|PMID:36346689|PMID:36387226|PMID:36446039|PMID:36547062|PMID:36627197|PMID:36674612|PMID:36704080|PMID:36744932|PMID:36765721|PMID:36790564|PMID:36853301|PMID:36896836|PMID:36898365|PMID:36988593|PMID:37075885|PMID:37091313|PMID:37097610|PMID:37149759|PMID:37232349|PMID:37323311|PMID:37345735|PMID:37436117|PMID:37438524|PMID:37450374|PMID:37453313|PMID:37802069|PMID:37833309|PMID:38002934|PMID:38003901|PMID:38091153|PMID:38136308|PMID:38153744|PMID:38156855|PMID:38201484|PMID:38355628|PMID:38416404|PMID:38439815|PMID:38489015|PMID:38520597|PMID:38854136|PMID:38874686|PMID:38917355|PMID:39021548|PMID:39052144|PMID:39077936|PMID:39272813|PMID:39427061|PMID:39521281|PMID:39590369|PMID:40115062|PMID:40161544|PMID:40403485|PMID:40446793|PMID:40565533|PMID:40580951|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8968760|PMID:9043869|PMID:9121450|PMID:9150358|PMID:9259193|PMID:9288106|PMID:9443866|PMID:9450906|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333 8708960 Atm ATM serine/threonine kinase gene DOID:1272 telangiectasis ISO RGD:1606040 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Telangiectasia PMID:10330348|PMID:23807571|PMID:25614872|PMID:25741868|PMID:28492532|PMID:30262796|PMID:8659541|PMID:9150358|PMID:9887333 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:1324 lung cancer ISO RGD:1606040 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer PMID:11606401|PMID:12149228|PMID:12473594|PMID:12697903|PMID:12810666|PMID:14735203|PMID:17490827|PMID:20305132|PMID:21787400|PMID:21792198|PMID:22213089|PMID:22529920|PMID:22995991|PMID:23114601|PMID:23555315|PMID:23810757|PMID:24142997|PMID:24695838|PMID:24728327|PMID:24834793|PMID:25085752|PMID:25318351|PMID:25479140|PMID:25587027|PMID:25625042|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26123645|PMID:26467025|PMID:26787654|PMID:26917275|PMID:27150160|PMID:27375234|PMID:27568332|PMID:28492532|PMID:32986223|PMID:33134171|PMID:33181636|PMID:33280026|PMID:38002934 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:1389 polyneuropathy ISO RGD:1606040 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Polyneuropathy PMID:11889466|PMID:12815592|PMID:14695534|PMID:19773425|PMID:22213089|PMID:25741868|PMID:28492532|PMID:31611883|PMID:9887333 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 20260519 ClinVar ClinVar Annotator: match by term: Neoplasm PMID:10330348|PMID:16266405|PMID:16603769|PMID:21665257|PMID:21778326|PMID:22006793|PMID:23585524|PMID:23807571|PMID:25614872|PMID:25741868|PMID:25980754|PMID:28492532|PMID:29665859|PMID:31447099|PMID:32885271|PMID:35101336|PMID:37149759|PMID:9443866|PMID:9887333 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 20260616 ClinVar ClinVar Annotator: match by term: Colonic carcinoma PMID:10023947|PMID:10425038|PMID:10464642|PMID:11996792|PMID:12362033|PMID:12673804|PMID:12935933|PMID:14754616|PMID:15101044|PMID:15280931|PMID:15880721|PMID:16167060|PMID:16574953|PMID:16652348|PMID:17000706|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17393301|PMID:17502119|PMID:17517479|PMID:18502988|PMID:18573109|PMID:18701470|PMID:19404735|PMID:19431188|PMID:20826828|PMID:21833744|PMID:22438227|PMID:22529920|PMID:23125224|PMID:23272087|PMID:23585524|PMID:24416720|PMID:24728327|PMID:25085752|PMID:25318351|PMID:25741868|PMID:25980754|PMID:26467025|PMID:27146902|PMID:27153395|PMID:27224988|PMID:27365426|PMID:27664052|PMID:28202063|PMID:28492532|PMID:28497333|PMID:28598434|PMID:31415627|PMID:33191115|PMID:37091313|PMID:8665503|PMID:8797579|PMID:9043869|PMID:9792409|PMID:9887333 8708960 Atm ATM serine/threonine kinase gene DOID:1596 depressive disorder ISO RGD:1606040 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Depression PMID:15054841|PMID:16832357|PMID:17576681|PMID:19781682|PMID:20305132|PMID:20346647|PMID:25085752|PMID:25741868|PMID:26467025|PMID:28259476|PMID:28492532|PMID:28779002|PMID:29522266|PMID:29945567|PMID:33436325|PMID:33471991|PMID:33479248|PMID:34326862|PMID:35047863|PMID:35467778|PMID:35716007|PMID:40403485|PMID:9536098 8708960 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:7240710 20260520 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 20250506 ClinVar ClinVar Annotator: match by term: BARD1-related cancer predisposition | 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:26247737|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 8708960 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: BARD1-related cancer predisposition | 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: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|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:28590052|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:31054420|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:32133419|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 8708960 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: BARD1-related cancer predisposition | 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:34271781|PMID:34299313|PMID:34301788|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:35078817|PMID:35085662|PMID:35095854|PMID:35145552|PMID:35154108|PMID:35171259|PMID:35245693|PMID:35264596|PMID:35284771|PMID:35354106|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:36627197|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:38697030|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:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20250527 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 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 20250527 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 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:28590052|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:32133419|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 8708960 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20250527 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 tumor of breast PMID:34301788|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:35078817|PMID:35085662|PMID:35095854|PMID:35145552|PMID:35154108|PMID:35171259|PMID:35245693|PMID:35264596|PMID:35284771|PMID:35354106|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:38697030|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:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20250701 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:10767628|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: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:23566627|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 8708960 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20250708 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: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|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:27854218|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:28497333|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:32133419|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 8708960 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20250708 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:34271781|PMID:34299313|PMID:34301788|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:35078243|PMID:35078817|PMID:35085662|PMID:35095854|PMID:35145552|PMID:35154108|PMID:35171259|PMID:35245693|PMID:35264596|PMID:35284771|PMID:35354106|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:37450374|PMID:37536918|PMID:37540892|PMID:37762649|PMID:38118367|PMID:38136308|PMID:38147532|PMID:38156855|PMID:38327652|PMID:38404774|PMID:38489015|PMID:38697030|PMID:38734904|PMID:38854973|PMID:38874686|PMID:39122510|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 20260519 ClinVar ClinVar Annotator: match by term: Breast Cancer | ClinVar Annotator: match by term: Breast cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant tumor of breast | ClinVar Annotator: match by term: breast cancer PMID:10330348|PMID:10397742|PMID:10425038|PMID:10817650|PMID:11298136|PMID:11443540|PMID:11505391|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11849780|PMID:11996792|PMID:12149228|PMID:12362033|PMID:12473594|PMID:12552559|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14735203|PMID:15039971|PMID:15042666|PMID:15280931|PMID:15756685|PMID:16199547|PMID:16266405|PMID:16631465|PMID:16832357|PMID:16941484|PMID:17124347|PMID:17333338|PMID:17351744|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17876757|PMID:18502988|PMID:18573109|PMID:18701470|PMID:19404735|PMID:19638463|PMID:19781682|PMID:20153123|PMID:20305132|PMID:20346647|PMID:20840352|PMID:20981092|PMID:21445571|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:22006793|PMID:22213089|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23114601|PMID:23242139|PMID:23322442|PMID:23376243|PMID:23555315|PMID:23561644|PMID:23585524|PMID:23807571|PMID:23810757|PMID:24142997|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24695838|PMID:24728327|PMID:24834793|PMID:25037873|PMID:25085752|PMID:25186627|PMID:25318351|PMID:25326635|PMID:25428789|PMID:25479140|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26098866|PMID:26123645|PMID:26320869|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26787654|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27150160|PMID:27153395|PMID:27375234|PMID:27468087|PMID:27535334|PMID:27568332|PMID:27616075|PMID:27621404|PMID:27782108|PMID:27878467|PMID:27913932|PMID:28135145|PMID:28202063|PMID:28259476|PMID:28492530|PMID:28492532|PMID:28503720|PMID:28652578|PMID:28724667|PMID:28779002|PMID:28843361|PMID:29053726|PMID:29356034|PMID:29470806|PMID:29478780|PMID:29522266|PMID:29641532|PMID:29659569|PMID:29665859|PMID:29909963|PMID:29945567|PMID:30086788|PMID:30159786|PMID:30256826|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30579816|PMID:30607632|PMID:30697212|PMID:30816533|PMID:30883245|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31285527|PMID:31382929|PMID:31422574|PMID:31428572|PMID:31472684|PMID:31611883|PMID:31658756|PMID:31780696|PMID:31794323|PMID:31920950|PMID:32039725|PMID:32183364|PMID:32325837|PMID:32427313|PMID:32521533|PMID:32522261|PMID:32854451|PMID:32885271|PMID:32906206|PMID:32980694|PMID:32986223|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33359728|PMID:33395407|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33547824|PMID:33804961|PMID:34009545|PMID:34204722|PMID:34262154|PMID:34271781|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34628594|PMID:34646395|PMID:34686943|PMID:35029067|PMID:35047863|PMID:35264596|PMID:35467778|PMID:35495172|PMID:35534704|PMID:35626031|PMID:35716007|PMID:35717579|PMID:35980532|PMID:36243179|PMID:36315513|PMID:36898365|PMID:36988593|PMID:37239058|PMID:37436117|PMID:37438524|PMID:38002934|PMID:38156855|PMID:39590369|PMID:40403485|PMID:40580951|PMID:8808599|PMID:8845835|PMID:9443866|PMID:9711876|PMID:9792409|PMID:9872980|PMID:9887333 8708960 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Breast Cancer | ClinVar Annotator: match by term: Breast cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant tumor of breast | ClinVar Annotator: match by term: breast cancer PMID:10330348|PMID:10397742|PMID:10425038|PMID:10817650|PMID:11298136|PMID:11443540|PMID:11505391|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11849780|PMID:11996792|PMID:12149228|PMID:12362033|PMID:12473594|PMID:12552559|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14735203|PMID:15039971|PMID:15042666|PMID:15280931|PMID:15756685|PMID:16199547|PMID:16266405|PMID:16631465|PMID:16832357|PMID:16941484|PMID:17124347|PMID:17333338|PMID:17351744|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17876757|PMID:18502988|PMID:18573109|PMID:18701470|PMID:19404735|PMID:19638463|PMID:19781682|PMID:20153123|PMID:20305132|PMID:20346647|PMID:20840352|PMID:20981092|PMID:21445571|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:22006793|PMID:22213089|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23114601|PMID:23242139|PMID:23322442|PMID:23376243|PMID:23555315|PMID:23561644|PMID:23585524|PMID:23807571|PMID:23810757|PMID:24142997|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24695838|PMID:24728327|PMID:24834793|PMID:25037873|PMID:25085752|PMID:25186627|PMID:25318351|PMID:25428789|PMID:25479140|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26098866|PMID:26123645|PMID:26320869|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26787654|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27150160|PMID:27153395|PMID:27375234|PMID:27468087|PMID:27535334|PMID:27568332|PMID:27616075|PMID:27621404|PMID:27782108|PMID:27878467|PMID:27913932|PMID:28135145|PMID:28202063|PMID:28259476|PMID:28492530|PMID:28492532|PMID:28503720|PMID:28652578|PMID:28724667|PMID:28779002|PMID:28843361|PMID:29053726|PMID:29356034|PMID:29470806|PMID:29478780|PMID:29522266|PMID:29641532|PMID:29659569|PMID:29665859|PMID:29909963|PMID:29945567|PMID:30086788|PMID:30159786|PMID:30256826|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30579816|PMID:30607632|PMID:30697212|PMID:30816533|PMID:30883245|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31285527|PMID:31382929|PMID:31422574|PMID:31428572|PMID:31472684|PMID:31611883|PMID:31658756|PMID:31780696|PMID:31794323|PMID:31920950|PMID:32039725|PMID:32183364|PMID:32325837|PMID:32427313|PMID:32521533|PMID:32522261|PMID:32854451|PMID:32885271|PMID:32906206|PMID:32980694|PMID:32986223|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33359728|PMID:33395407|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33547824|PMID:33804961|PMID:34009545|PMID:34204722|PMID:34262154|PMID:34271781|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34628594|PMID:34646395|PMID:34686943|PMID:35047863|PMID:35264596|PMID:35467778|PMID:35495172|PMID:35534704|PMID:35626031|PMID:35716007|PMID:35717579|PMID:35980532|PMID:36243179|PMID:36315513|PMID:36898365|PMID:36988593|PMID:37239058|PMID:37436117|PMID:37438524|PMID:38002934|PMID:38156855|PMID:39590369|PMID:40403485|PMID:40580951|PMID:8808599|PMID:8845835|PMID:9443866|PMID:9711876|PMID:9792409|PMID:9872980|PMID:9887333 8708960 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Breast Cancer | ClinVar Annotator: match by term: Breast cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant tumor of breast | ClinVar Annotator: match by term: breast cancer PMID:10330348|PMID:10397742|PMID:10425038|PMID:10817650|PMID:11298136|PMID:11443540|PMID:11505391|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11849780|PMID:11996792|PMID:12149228|PMID:12362033|PMID:12473594|PMID:12552559|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14735203|PMID:15039971|PMID:15042666|PMID:15280931|PMID:15756685|PMID:16199547|PMID:16266405|PMID:16631465|PMID:16832357|PMID:16941484|PMID:17124347|PMID:17333338|PMID:17351744|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17876757|PMID:18502988|PMID:18573109|PMID:18701470|PMID:19404735|PMID:19638463|PMID:19781682|PMID:20153123|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20840352|PMID:20981092|PMID:21445571|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:22006793|PMID:22213089|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23114601|PMID:23242139|PMID:23322442|PMID:23376243|PMID:23555315|PMID:23561644|PMID:23585524|PMID:23807571|PMID:23810757|PMID:24142997|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24695838|PMID:24728327|PMID:24834793|PMID:25037873|PMID:25085752|PMID:25186627|PMID:25318351|PMID:25428789|PMID:25479140|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26098866|PMID:26123645|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26787654|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27150160|PMID:27153395|PMID:27375234|PMID:27468087|PMID:27535334|PMID:27568332|PMID:27621404|PMID:27782108|PMID:27878467|PMID:27913932|PMID:28135145|PMID:28202063|PMID:28259476|PMID:28492530|PMID:28492532|PMID:28503720|PMID:28652578|PMID:28724667|PMID:28779002|PMID:28843361|PMID:29053726|PMID:29356034|PMID:29470806|PMID:29478780|PMID:29522266|PMID:29641532|PMID:29659569|PMID:29665859|PMID:29909963|PMID:29945567|PMID:30086788|PMID:30159786|PMID:30256826|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30579816|PMID:30607632|PMID:30697212|PMID:30816533|PMID:30883245|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31285527|PMID:31382929|PMID:31422574|PMID:31428572|PMID:31472684|PMID:31611883|PMID:31658756|PMID:31780696|PMID:31794323|PMID:31920950|PMID:32039725|PMID:32183364|PMID:32325837|PMID:32427313|PMID:32521533|PMID:32522261|PMID:32854451|PMID:32885271|PMID:32906206|PMID:32980694|PMID:32986223|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33359728|PMID:33395407|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33547824|PMID:33804961|PMID:34009545|PMID:34204722|PMID:34262154|PMID:34271781|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34628594|PMID:34646395|PMID:34686943|PMID:35047863|PMID:35145552|PMID:35264596|PMID:35467778|PMID:35495172|PMID:35534704|PMID:35626031|PMID:35716007|PMID:35717579|PMID:35980532|PMID:36243179|PMID:36898365|PMID:36988593|PMID:37239058|PMID:37436117|PMID:37438524|PMID:38002934|PMID:38156855|PMID:39590369|PMID:40403485|PMID:40580951|PMID:8808599|PMID:8845835|PMID:9443866|PMID:9711876|PMID:9792409|PMID:9872980|PMID:9887333 8708960 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer susceptibility ISO RGD:1606040 D RGD:9068941 20260521 RGD PMID:11200774|REF_RGD_ID:1643350 8708960 Atm ATM serine/threonine kinase gene DOID:162 cancer ISO RGD:1606040 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: ATM-related cancer predisposition PMID:10234507|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10677309|PMID:10817650|PMID:10980530|PMID:11443540|PMID:11505391|PMID:11606401|PMID:11849780|PMID:11889466|PMID:11996792|PMID:12149228|PMID:12473594|PMID:12552559|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12935933|PMID:14695534|PMID:14735203|PMID:15280931|PMID:15756685|PMID:15843990|PMID:16199547|PMID:16266405|PMID:16631465|PMID:16941484|PMID:17124347|PMID:17333338|PMID:17351744|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17640065|PMID:17876757|PMID:17910737|PMID:18497957|PMID:18573109|PMID:18701470|PMID:18846412|PMID:19224889|PMID:19431188|PMID:19691550|PMID:19773425|PMID:19781682|PMID:20077034|PMID:20305132|PMID:20308662|PMID:20840352|PMID:21445571|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21965147|PMID:22006793|PMID:22071889|PMID:22213089|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23555315|PMID:23640770|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24142997|PMID:24549055|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24834793|PMID:25037873|PMID:25085752|PMID:25318351|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26123645|PMID:26467025|PMID:26635394|PMID:26681312|PMID:26757417|PMID:26787654|PMID:26822949|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26917275|PMID:27150160|PMID:27153395|PMID:27375234|PMID:27568332|PMID:27599564|PMID:28087566|PMID:28281021|PMID:28492532|PMID:28503720|PMID:28652578|PMID:28724667|PMID:28779002|PMID:28873162|PMID:29053726|PMID:29470806|PMID:29506128|PMID:29522266|PMID:29625052|PMID:29641532|PMID:29665859|PMID:29909963|PMID:29922827|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30661751|PMID:30697212|PMID:30772474|PMID:30816533|PMID:30819809|PMID:31050087|PMID:31159747|PMID:31214711|PMID:31285527|PMID:31350202|PMID:31428572|PMID:31472684|PMID:31611883|PMID:31741144|PMID:31794323|PMID:31843900|PMID:32068069|PMID:32183364|PMID:32255556|PMID:32325837|PMID:32427313|PMID:32521533|PMID:32566746|PMID:32658311|PMID:32748564|PMID:32756499|PMID:32802943|PMID:32853339|PMID:32885271|PMID:32906206|PMID:32986223|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33395407|PMID:33436325|PMID:33471991|PMID:33509806|PMID:33624863|PMID:34107524|PMID:34271781|PMID:34489640|PMID:35008949|PMID:35047863|PMID:35095854|PMID:35257272|PMID:35304488|PMID:35441217|PMID:35475445|PMID:35717579|PMID:3574400|PMID:36293153|PMID:36315513|PMID:36547062|PMID:36988593|PMID:37232349|PMID:37438524|PMID:38002934|PMID:38091153|PMID:39138584|PMID:40580951|PMID:8698354|PMID:8808599|PMID:8845835|PMID:9043869|PMID:9288106|PMID:9443866|PMID:9497252|PMID:9536098|PMID:9622061|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:1793 pancreatic cancer ISO RGD:1606040 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Pancreatic cancer PMID:15843990|PMID:19404735|PMID:21665257|PMID:23807571|PMID:25614872|PMID:25741868|PMID:28492532|PMID:29596542|PMID:29731985|PMID:31050087|PMID:31118792|PMID:32338768|PMID:33280026|PMID:34196900|PMID:36933202|PMID:36988593|PMID:38374498|PMID:9872980 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:1984 rectal benign neoplasm ISO RGD:1606040 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Rectal neoplasm PMID:11606401|PMID:12149228|PMID:12473594|PMID:12697903|PMID:12810666|PMID:14735203|PMID:17490827|PMID:20305132|PMID:21787400|PMID:21792198|PMID:22213089|PMID:22529920|PMID:22995991|PMID:23114601|PMID:23555315|PMID:23810757|PMID:24142997|PMID:24695838|PMID:24728327|PMID:24834793|PMID:25085752|PMID:25318351|PMID:25479140|PMID:25587027|PMID:25625042|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26123645|PMID:26467025|PMID:26787654|PMID:26917275|PMID:27150160|PMID:27375234|PMID:27568332|PMID:28492532|PMID:32986223|PMID:33134171|PMID:33181636|PMID:33280026|PMID:38002934 8708960 Atm ATM serine/threonine kinase gene DOID:2030 anxiety disorder ISO RGD:1606040 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Anxiety PMID:15054841|PMID:16832357|PMID:17576681|PMID:19781682|PMID:20305132|PMID:20346647|PMID:25085752|PMID:25741868|PMID:26467025|PMID:28259476|PMID:28492532|PMID:28779002|PMID:29522266|PMID:29945567|PMID:33436325|PMID:33471991|PMID:33479248|PMID:34326862|PMID:35047863|PMID:35467778|PMID:35716007|PMID:40403485|PMID:9536098 8708960 Atm ATM serine/threonine kinase gene DOID:219 colon cancer ISO RGD:1606040 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon cancer PMID:25741868|PMID:28492532|PMID:28779002|PMID:29522266|PMID:29641532|PMID:33471991 8708960 Atm ATM serine/threonine kinase gene DOID:2303 stereotypic movement disorder ISO RGD:1606040 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Stereotypic movement disorder PMID:15054841|PMID:17576681|PMID:25741868|PMID:28492532|PMID:33479248|PMID:9536098 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 20260616 ClinVar ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Ovarian cancer PMID:10397742|PMID:10817650|PMID:11443540|PMID:11606401|PMID:11996792|PMID:12149228|PMID:12473594|PMID:12697903|PMID:12810666|PMID:14735203|PMID:15042666|PMID:15280931|PMID:15756685|PMID:16631465|PMID:17124347|PMID:17351744|PMID:17393301|PMID:17490827|PMID:18701470|PMID:19404735|PMID:19638463|PMID:19781682|PMID:20305132|PMID:21787400|PMID:21792198|PMID:21933854|PMID:22213089|PMID:22529920|PMID:22995991|PMID:23114601|PMID:23555315|PMID:23585524|PMID:23810757|PMID:24142997|PMID:24416720|PMID:24695838|PMID:24728327|PMID:24834793|PMID:25085752|PMID:25318351|PMID:25479140|PMID:25587027|PMID:25625042|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26123645|PMID:26467025|PMID:26787654|PMID:26898890|PMID:26917275|PMID:27150160|PMID:27153395|PMID:27375234|PMID:27568332|PMID:27782108|PMID:28135048|PMID:28202063|PMID:28492532|PMID:28580595|PMID:28779002|PMID:30287823|PMID:31382929|PMID:32522261|PMID:32986223|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33471991|PMID:34009545|PMID:34262154|PMID:36315919|PMID:38002934|PMID:9872980|PMID:9887333 8708960 Atm ATM serine/threonine kinase gene DOID:2671 transitional cell carcinoma ISO RGD:1606040 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Urothelial carcinoma PMID:10397742|PMID:10817650|PMID:11443540|PMID:11606401|PMID:11996792|PMID:12473594|PMID:15042666|PMID:15280931|PMID:15756685|PMID:16631465|PMID:17124347|PMID:17351744|PMID:17393301|PMID:18701470|PMID:19404735|PMID:19638463|PMID:19781682|PMID:23585524|PMID:24416720|PMID:24728327|PMID:25741868|PMID:26467025|PMID:26898890|PMID:27153395|PMID:27782108|PMID:28202063|PMID:28492532|PMID:31382929|PMID:32522261|PMID:33280026|PMID:34009545|PMID:9872980|PMID:9887333 8708960 Atm ATM serine/threonine kinase gene DOID:2871 endometrial carcinoma ISO RGD:1606040 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma | ClinVar Annotator: match by term: endometrium carcinoma PMID:10397742|PMID:10817650|PMID:11443540|PMID:11606401|PMID:11996792|PMID:12149228|PMID:12473594|PMID:12697903|PMID:12810666|PMID:133608|PMID:14735203|PMID:15042666|PMID:15280931|PMID:15756685|PMID:16631465|PMID:17124347|PMID:17351744|PMID:17393301|PMID:17490827|PMID:18701470|PMID:19404735|PMID:19638463|PMID:19781682|PMID:20305132|PMID:21787400|PMID:21792198|PMID:22213089|PMID:22529920|PMID:22995991|PMID:23114601|PMID:23555315|PMID:23585524|PMID:23810757|PMID:24142997|PMID:24416720|PMID:24695838|PMID:24728327|PMID:24834793|PMID:25085752|PMID:25186627|PMID:25318351|PMID:25479140|PMID:25587027|PMID:25625042|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26123645|PMID:26467025|PMID:26787654|PMID:26898890|PMID:26917275|PMID:27150160|PMID:27153395|PMID:27375234|PMID:27443514|PMID:27568332|PMID:27782108|PMID:28202063|PMID:28492532|PMID:31206626|PMID:31382929|PMID:32522261|PMID:32986223|PMID:33134171|PMID:33181636|PMID:33280026|PMID:34009545|PMID:38002934|PMID:9872980|PMID:9887333 8708960 Atm ATM serine/threonine kinase gene DOID:3008 invasive ductal carcinoma ISO RGD:1606040 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Infiltrating duct carcinoma of breast PMID:11606401|PMID:12149228|PMID:12473594|PMID:12697903|PMID:12810666|PMID:14735203|PMID:17490827|PMID:20305132|PMID:21787400|PMID:21792198|PMID:22213089|PMID:22529920|PMID:22995991|PMID:23114601|PMID:23555315|PMID:23810757|PMID:24142997|PMID:24695838|PMID:24728327|PMID:24834793|PMID:25085752|PMID:25318351|PMID:25479140|PMID:25587027|PMID:25625042|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26123645|PMID:26467025|PMID:26787654|PMID:26917275|PMID:27150160|PMID:27375234|PMID:27568332|PMID:28492532|PMID:32986223|PMID:33134171|PMID:33181636|PMID:33280026|PMID:38002934 8708960 Atm ATM serine/threonine kinase gene DOID:3275 thymoma ISO RGD:1606040 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8708960 Atm ATM serine/threonine kinase gene DOID:3277 thymus cancer ISO RGD:1606040 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymus cancer PMID:11606401|PMID:12149228|PMID:12473594|PMID:12697903|PMID:12810666|PMID:14735203|PMID:17490827|PMID:20305132|PMID:21787400|PMID:21792198|PMID:22213089|PMID:22529920|PMID:22995991|PMID:23114601|PMID:23555315|PMID:23810757|PMID:24142997|PMID:24695838|PMID:24728327|PMID:24834793|PMID:25085752|PMID:25318351|PMID:25479140|PMID:25587027|PMID:25625042|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26123645|PMID:26467025|PMID:26787654|PMID:26917275|PMID:27150160|PMID:27375234|PMID:27568332|PMID:28492532|PMID:32986223|PMID:33134171|PMID:33181636|PMID:33280026|PMID:38002934 8708960 Atm ATM serine/threonine kinase gene DOID:3312 bipolar disorder ISO RGD:1606040 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Bipolar affective disorder PMID:15054841|PMID:17576681|PMID:25741868|PMID:28492532|PMID:33479248|PMID:9536098 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 20260519 ClinVar ClinVar Annotator: match by term: Breast carcinoma PMID:10330348|PMID:10397742|PMID:10817650|PMID:10873394|PMID:11443540|PMID:11606401|PMID:11996792|PMID:12149228|PMID:12473594|PMID:12552559|PMID:12697903|PMID:12810666|PMID:14735203|PMID:15042666|PMID:15280931|PMID:15756685|PMID:16631465|PMID:16941484|PMID:17124347|PMID:17351744|PMID:17393301|PMID:17490827|PMID:18701470|PMID:19404735|PMID:19638463|PMID:19781682|PMID:20305132|PMID:20678261|PMID:20840352|PMID:21778326|PMID:21787400|PMID:21792198|PMID:22006793|PMID:22213089|PMID:22529920|PMID:22995991|PMID:23114601|PMID:23555315|PMID:23585524|PMID:23807571|PMID:23810757|PMID:24142997|PMID:24416720|PMID:24695838|PMID:24728327|PMID:24834793|PMID:25085752|PMID:25186627|PMID:25318351|PMID:25479140|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26123645|PMID:26467025|PMID:26689913|PMID:26787654|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26917275|PMID:26976419|PMID:27150160|PMID:27153395|PMID:27375234|PMID:27568332|PMID:27782108|PMID:27913932|PMID:27978560|PMID:28202063|PMID:28492532|PMID:28652578|PMID:28724667|PMID:28779002|PMID:29522266|PMID:29641532|PMID:29909963|PMID:30262796|PMID:30303537|PMID:30607632|PMID:30697212|PMID:30816533|PMID:30883245|PMID:31050087|PMID:31159747|PMID:31206626|PMID:31382929|PMID:31422574|PMID:31472684|PMID:31611883|PMID:31658756|PMID:31794323|PMID:31920950|PMID:32427313|PMID:32521533|PMID:32522261|PMID:32854451|PMID:32986223|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33395407|PMID:33436325|PMID:33471991|PMID:34009545|PMID:34299313|PMID:34326862|PMID:35047863|PMID:35171259|PMID:35264596|PMID:35467778|PMID:36029002|PMID:36555667|PMID:36988593|PMID:38002934|PMID:9872980|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:3462 hamartoma ISO RGD:1606040 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hamartoma PMID:11606401|PMID:12149228|PMID:12473594|PMID:12697903|PMID:12810666|PMID:14735203|PMID:17490827|PMID:20305132|PMID:21787400|PMID:21792198|PMID:22213089|PMID:22529920|PMID:22995991|PMID:23114601|PMID:23555315|PMID:23810757|PMID:24142997|PMID:24695838|PMID:24728327|PMID:24834793|PMID:25085752|PMID:25318351|PMID:25479140|PMID:25587027|PMID:25625042|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26123645|PMID:26467025|PMID:26787654|PMID:26917275|PMID:27150160|PMID:27375234|PMID:27568332|PMID:28492532|PMID:32986223|PMID:33134171|PMID:33181636|PMID:33280026|PMID:38002934 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:3948 adrenocortical carcinoma ISO RGD:1606040 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Adrenal cortex carcinoma 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 20260519 ClinVar ClinVar Annotator: match by term: Ovarian carcinoma PMID:10330348|PMID:10817650|PMID:16461462|PMID:17124347|PMID:23807571|PMID:25614872|PMID:25741868|PMID:28492532|PMID:39521281 8708960 Atm ATM serine/threonine kinase gene DOID:4007 bladder carcinoma ISO RGD:1606040 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Urinary bladder carcinoma PMID:25741868|PMID:28492532|PMID:28779002|PMID:29522266|PMID:29641532|PMID:33471991 8708960 Atm ATM serine/threonine kinase gene DOID:4362 cervical cancer ISO RGD:1606040 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer PMID:11606401|PMID:12149228|PMID:12473594|PMID:12697903|PMID:12810666|PMID:14735203|PMID:17490827|PMID:20305132|PMID:21787400|PMID:21792198|PMID:22213089|PMID:22529920|PMID:22995991|PMID:23114601|PMID:23555315|PMID:23810757|PMID:24142997|PMID:24695838|PMID:24728327|PMID:24834793|PMID:25085752|PMID:25318351|PMID:25479140|PMID:25587027|PMID:25625042|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26123645|PMID:26467025|PMID:26787654|PMID:26917275|PMID:27150160|PMID:27375234|PMID:27568332|PMID:28492532|PMID:32986223|PMID:33134171|PMID:33181636|PMID:33280026|PMID:38002934 8708960 Atm ATM serine/threonine kinase gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1606040 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney PMID:11849780|PMID:17124347|PMID:17517479|PMID:20077034|PMID:25741868|PMID:26467025|PMID:26635394|PMID:28492532|PMID:36315513|PMID:36547062|PMID:40580951|PMID:9887333 8708960 Atm ATM serine/threonine kinase gene DOID:4606 bile duct cancer ISO RGD:1606040 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Bile duct cancer PMID:11849780|PMID:17124347|PMID:17517479|PMID:20077034|PMID:25741868|PMID:26467025|PMID:26635394|PMID:28492532|PMID:36315513|PMID:36547062|PMID:40580951|PMID:9887333 8708960 Atm ATM serine/threonine kinase gene DOID:5041 esophageal cancer ISO RGD:1606040 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 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:5517 stomach carcinoma ISO RGD:1606040 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric carcinoma PMID:10397742|PMID:10817650|PMID:11443540|PMID:11606401|PMID:11996792|PMID:12473594|PMID:15042666|PMID:15280931|PMID:15756685|PMID:16631465|PMID:17124347|PMID:17351744|PMID:17393301|PMID:18701470|PMID:19404735|PMID:19638463|PMID:19781682|PMID:23585524|PMID:24416720|PMID:24728327|PMID:25741868|PMID:26467025|PMID:26898890|PMID:27153395|PMID:27782108|PMID:28202063|PMID:28492532|PMID:31382929|PMID:32522261|PMID:33280026|PMID:34009545|PMID:9872980|PMID:9887333 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: BRCA2-related cancer predisposition | 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 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: 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 | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer 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: 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: 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: 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: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: 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: 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: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:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | 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 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: 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 | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer 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:27732944|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:28724667|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:29667044|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:30607632|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:31691010|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 8708960 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | 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 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: 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 | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer 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:33525650|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33624863|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33758026|PMID:33804961|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:38496821|PMID:38854973|PMID:39077936|PMID:39085400|PMID:39226054|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 20250506 ClinVar ClinVar Annotator: match by term: BRCA2-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, 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 | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer 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:12883528|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:20153123|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:24970356|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|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 8708960 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: BRCA2-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, 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 | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer PMID:26155992|PMID:26164066|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|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:26786923|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:27039262|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:27732944|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:28087566|PMID:28093192|PMID:28093616|PMID:28125075|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:28590052|PMID:28591191|PMID:28608266|PMID:28625278|PMID:28640387|PMID:28652578|PMID:28717660|PMID:28724667|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:29555025|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29665859|PMID:29667044|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:30607632|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:31159474|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:31691010|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 8708960 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: BRCA2-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, 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 | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer 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:33203166|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:33525650|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33624863|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33758026|PMID:33779842|PMID:33804961|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:35186721|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:36744932|PMID:36853301|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:38313678|PMID:38355628|PMID:38489015|PMID:38496821|PMID:38854973|PMID:39077936|PMID:39085400|PMID:39226054|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:9259193|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 20250701 ClinVar ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-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: 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 | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer 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:12883528|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:20153123|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:24970356|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|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 8708960 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-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: 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 | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer PMID:26164066|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|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:26786923|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:27039262|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:27732944|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27959900|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27994516|PMID:28007021|PMID:28008555|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28125075|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:28625278|PMID:28640387|PMID:28652578|PMID:28717660|PMID:28724667|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:29555025|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29665859|PMID:29667044|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:30607632|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:31159474|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:31691010|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:32802943|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32906206 8708960 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-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: 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 | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer 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:33203166|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:33525650|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33624863|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33758026|PMID:33779842|PMID:33804961|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:35186721|PMID:35218119|PMID:35245693|PMID:35257272|PMID:35264596|PMID:35273153|PMID:35312250|PMID:35354106|PMID:35358259|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:36744932|PMID:36853301|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:37438524|PMID:37529773|PMID:37762649|PMID:38017116|PMID:38028594|PMID:38118367|PMID:38136308|PMID:38153744|PMID:38156855|PMID:38313678|PMID:38355628|PMID:38489015|PMID:38496821|PMID:38673061|PMID:38734904|PMID:38854973|PMID:38896321|PMID:38917355|PMID:39077936|PMID:39085400|PMID:39122510|PMID:39226054|PMID:39256447|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:9259193|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 20250722 ClinVar ClinVar Annotator: match by term: BRCA2-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: 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 | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer | ClinVar Annotator: match by term: RAD51D-related disorder PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11078475|PMID:11173867|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12362033|PMID:12473594|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:12935933|PMID:12969974|PMID:12970738|PMID:14562025|PMID:14643952|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15217508|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16167060|PMID:16199547|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:18164969|PMID:18261794|PMID:18384426|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18634022|PMID:18701470|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:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20927582|PMID:20981092|PMID:21396839|PMID:21445571|PMID:21447618|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:22369572|PMID:22420423|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23322442|PMID:23369113|PMID:23555315|PMID:23585524|PMID:23726790|PMID:23807571|PMID:23810757|PMID:24033266|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:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24886963|PMID:24951259|PMID:24954719|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25122203|PMID:25148578|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25862857|PMID:25882375|PMID:25892863|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26182300|PMID:26207792|PMID:26250988|PMID:26467025|PMID:26506520|PMID:26580448|PMID:26635394|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26896183|PMID:26898890|PMID:26911350|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27224988|PMID:27365426|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27568332|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27782108|PMID:27803004|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27994516|PMID:28087566|PMID:28126470|PMID:28135145|PMID:28152038|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28423360|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28640387|PMID:28652578|PMID:28717660 8708960 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20250722 ClinVar ClinVar Annotator: match by term: BRCA2-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: 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 | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer | ClinVar Annotator: match by term: RAD51D-related disorder PMID:28726808|PMID:28743247|PMID:28767289|PMID:28779002|PMID:28830922|PMID:28843361|PMID:28873162|PMID:29059438|PMID:29360550|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29665859|PMID:29684080|PMID:29778231|PMID:29906526|PMID:29915322|PMID:29922827|PMID:29961768|PMID:30093976|PMID:30128536|PMID:30181556|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30425284|PMID:30426508|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30613976|PMID:30620386|PMID:30639167|PMID:30666157|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31159474|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31350202|PMID:31360874|PMID:31382929|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31589614|PMID:31638252|PMID:31666926|PMID:31691010|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:31942411|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32068069|PMID:32125938|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32283892|PMID:32295079|PMID:32300177|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32371905|PMID:32522261|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32720237|PMID:32748564|PMID:32802943|PMID:32832836|PMID:32853339|PMID:32866190|PMID:32866655|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33003326|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33168809|PMID:33181636|PMID:33191115|PMID:33203166|PMID:33206719|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33359728|PMID:33395407|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33471191|PMID:33471991|PMID:33525650|PMID:33544757|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33624863|PMID:33646313|PMID:33747920|PMID:33758026|PMID:33779842|PMID:33850299|PMID:33875564|PMID:33939675|PMID:33980423|PMID:34009545|PMID:34107524|PMID:34204722|PMID:34250389|PMID:34262154|PMID:34271781|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34489640|PMID:34646395|PMID:34994613|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35078817|PMID:35085662|PMID:35098669|PMID:35218119|PMID:35257272|PMID:35264596|PMID:35273153|PMID:35365198|PMID:35451682|PMID:35467778|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35666082|PMID:35716007|PMID:35717579|PMID:35980532|PMID:36029002|PMID:36135357|PMID:36155879|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36555667|PMID:36568162|PMID:36674612|PMID:36685941|PMID:36744932|PMID:36853301|PMID:36898365|PMID:36988593|PMID:37013556|PMID:37088804|PMID:37091313|PMID:37097610|PMID:37306523|PMID:37349538|PMID:37436117|PMID:37438524|PMID:37529773|PMID:37762649|PMID:38153744|PMID:38156855|PMID:38355628|PMID:39077936|PMID:39226054|PMID:39256447|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8845835|PMID:9043869|PMID:9288106|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 20260519 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: Hereditary Breast and Ovarian Cancer Syndrome | 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 | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer PMID:10330348|PMID:10397742|PMID:10425038|PMID:10677309|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11443540|PMID:11505391|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11849780|PMID:11889466|PMID:11996792|PMID:12149228|PMID:12473594|PMID:12552559|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12935933|PMID:12969974|PMID:14695186|PMID:14735203|PMID:14754616|PMID:15042666|PMID:15101044|PMID:15280931|PMID:15756685|PMID:16199547|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16941484|PMID:17000706|PMID:17124347|PMID:17333338|PMID:17341484|PMID:17351744|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17576681|PMID:17640065|PMID:17876757|PMID:18321536|PMID:18502988|PMID:18573109|PMID:18634022|PMID:18701470|PMID:19147735|PMID:19404735|PMID:19431188|PMID:19638463|PMID:19691550|PMID:19770270|PMID:19781682|PMID:20077034|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20826828|PMID:20981092|PMID:21445571|PMID:21447618|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:22213089|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23114601|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24120321|PMID:24142997|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24695838|PMID:24728327|PMID:24834793|PMID:24954719|PMID:25037873|PMID:25077176|PMID:25085752|PMID:25186627|PMID:25318351|PMID:25374739|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26123645|PMID:26270727|PMID:26467025|PMID:26506520|PMID:26580448|PMID:26635394|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26771497|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27067391|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27224988|PMID:27365426|PMID:27375234|PMID:27468087|PMID:27568332|PMID:27595995|PMID:27613453|PMID:27671921|PMID:27782108|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27980538|PMID:28135145|PMID:28202063|PMID:28492532|PMID:28503720|PMID:28640387|PMID:28652578|PMID:28724667|PMID:28726808|PMID:28779002|PMID:28843361|PMID:29059438|PMID:29482223|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29785153|PMID:30128536|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30549301|PMID:30666157|PMID:30883245|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31159474|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31382929|PMID:31428572|PMID:31432501|PMID:31780696|PMID:31843900|PMID:31871109|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32325837|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32832836|PMID:32885271|PMID:32980694|PMID:32986223|PMID:33003326|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33191115|PMID:33203166|PMID:33280026|PMID:33309985|PMID:33359728|PMID:33395407|PMID:33436325|PMID:33471991|PMID:33509806|PMID:33779842|PMID:33850299|PMID:34009545|PMID:34262154|PMID:34271781|PMID:34326862|PMID:34646395|PMID:35029067|PMID:35047863|PMID:35145552|PMID:35171259|PMID:35218119|PMID:35264596|PMID:35365198|PMID:35467778|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35716007|PMID:35717579|PMID:35980532|PMID:36029002|PMID:36135357|PMID:36243179|PMID:36315513|PMID:36547062|PMID:36898365|PMID:36988593|PMID:37091313|PMID:37436117|PMID:37438524|PMID:37529773|PMID:38002934|PMID:38156855|PMID:39256447|PMID:40580951|PMID:8789452|PMID:9288106|PMID:9450906|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9792409|PMID:9872980|PMID:9887333 8708960 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20260602 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: Hereditary Breast and Ovarian Cancer Syndrome | 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 | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer PMID:10330348|PMID:10397742|PMID:10425038|PMID:10677309|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11443540|PMID:11505391|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11849780|PMID:11889466|PMID:11996792|PMID:12149228|PMID:12473594|PMID:12552559|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12935933|PMID:12969974|PMID:14695186|PMID:14735203|PMID:14754616|PMID:15042666|PMID:15101044|PMID:15280931|PMID:15756685|PMID:16199547|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16941484|PMID:17000706|PMID:17124347|PMID:17333338|PMID:17341484|PMID:17351744|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17576681|PMID:17640065|PMID:17876757|PMID:18321536|PMID:18502988|PMID:18573109|PMID:18634022|PMID:18701470|PMID:19147735|PMID:19404735|PMID:19431188|PMID:19638463|PMID:19691550|PMID:19770270|PMID:19781682|PMID:20077034|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20826828|PMID:20981092|PMID:21445571|PMID:21447618|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:22213089|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23114601|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24120321|PMID:24142997|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24695838|PMID:24728327|PMID:24834793|PMID:24954719|PMID:25037873|PMID:25077176|PMID:25085752|PMID:25186627|PMID:25318351|PMID:25374739|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26123645|PMID:26270727|PMID:26467025|PMID:26506520|PMID:26580448|PMID:26635394|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26771497|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27067391|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27224988|PMID:27365426|PMID:27375234|PMID:27468087|PMID:27568332|PMID:27595995|PMID:27613453|PMID:27671921|PMID:27782108|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27980538|PMID:28135145|PMID:28202063|PMID:28492532|PMID:28503720|PMID:28640387|PMID:28652578|PMID:28724667|PMID:28726808|PMID:28779002|PMID:28843361|PMID:29059438|PMID:29482223|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29785153|PMID:30128536|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30549301|PMID:30666157|PMID:30883245|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31159474|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31382929|PMID:31428572|PMID:31432501|PMID:31780696|PMID:31843900|PMID:31871109|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32183364|PMID:32255556|PMID:32325837|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32832836|PMID:32885271|PMID:32980694|PMID:32986223|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33191115|PMID:33280026|PMID:33309985|PMID:33359728|PMID:33395407|PMID:33436325|PMID:33471991|PMID:33509806|PMID:33779842|PMID:33850299|PMID:34009545|PMID:34262154|PMID:34271781|PMID:34326862|PMID:34646395|PMID:35047863|PMID:35145552|PMID:35171259|PMID:35264596|PMID:35365198|PMID:35467778|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35716007|PMID:35717579|PMID:35980532|PMID:36029002|PMID:36135357|PMID:36243179|PMID:36315513|PMID:36547062|PMID:36898365|PMID:36988593|PMID:37091313|PMID:37436117|PMID:37438524|PMID:37529773|PMID:38002934|PMID:38156855|PMID:39256447|PMID:40580951|PMID:8789452|PMID:9288106|PMID:9450906|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9792409|PMID:9872980|PMID:9887333 8708960 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20260616 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 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 Syndrome | 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 | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10464642|PMID:10677309|PMID:10817650|PMID:10864201|PMID:10873394|PMID:11443540|PMID:11505391|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11849780|PMID:11996792|PMID:12149228|PMID:12362033|PMID:12473594|PMID:12552559|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12935933|PMID:12969974|PMID:14695186|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15101044|PMID:15280931|PMID:15756685|PMID:15880721|PMID:16167060|PMID:16199547|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16832357|PMID:17000706|PMID:17124347|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17640065|PMID:17876757|PMID:18384426|PMID:18502988|PMID:18573109|PMID:18701470|PMID:19147735|PMID:19404735|PMID:19431188|PMID:19638463|PMID:19691550|PMID:19770270|PMID:19781682|PMID:20077034|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20826828|PMID:20981092|PMID:21445571|PMID:21447618|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21965147|PMID:22213089|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23114601|PMID:23125224|PMID:23272087|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24120321|PMID:24142997|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24695838|PMID:24728327|PMID:24834793|PMID:24954719|PMID:25077176|PMID:25085752|PMID:25186627|PMID:25318351|PMID:25374739|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26123645|PMID:26182300|PMID:26467025|PMID:26506520|PMID:26580448|PMID:26635394|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26771497|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27067391|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27224988|PMID:27365426|PMID:27375234|PMID:27433846|PMID:27468087|PMID:27484032|PMID:27568332|PMID:27595995|PMID:27664052|PMID:27782108|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27980538|PMID:28135145|PMID:28202063|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28598434|PMID:28652578|PMID:28724667|PMID:28779002|PMID:28843361|PMID:29059438|PMID:29478780|PMID:29522266|PMID:29625052|PMID:29659569|PMID:29915322|PMID:29922827|PMID:29961768|PMID:30128536|PMID:30256826|PMID:30257646|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30549301|PMID:30666157|PMID:30772474|PMID:30883245|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31159474|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31382929|PMID:31415627|PMID:31428572|PMID:31432501|PMID:31589614|PMID:31780696|PMID:31871109|PMID:32039725|PMID:32068069|PMID:32183364|PMID:32255556|PMID:32325837|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32832836|PMID:32853339|PMID:32885271|PMID:32980694|PMID:32986223|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33191115|PMID:33280026|PMID:33309985|PMID:33359728|PMID:33395407|PMID:33436325|PMID:33471991|PMID:33509806|PMID:33758026|PMID:33850299|PMID:34009545|PMID:34262154|PMID:34271781|PMID:34326862|PMID:34337741|PMID:34646395|PMID:35078243|PMID:35171259|PMID:35264596|PMID:35365198|PMID:35467778|PMID:35495172|PMID:35534218|PMID:35716007|PMID:35717579|PMID:35980532|PMID:36029002|PMID:36135357|PMID:36243179|PMID:36315513|PMID:36547062|PMID:36898365|PMID:36988593|PMID:37091313|PMID:37436117|PMID:37438524|PMID:38002934|PMID:38156855|PMID:40580951|PMID:8665503|PMID:8755918|PMID:8797579|PMID:9043869|PMID:9288106|PMID:9450906|PMID:9463314|PMID:9497252|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9792409|PMID:9872980|PMID:9887333 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:6171 uterine carcinosarcoma ISO RGD:1606040 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8708960 Atm ATM serine/threonine kinase gene DOID:6741 bilateral breast cancer ISO RGD:1606040 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Bilateral breast cancer | ClinVar Annotator: match by term: bilateral breast cancer PMID:10397742|PMID:10817650|PMID:11443540|PMID:11606401|PMID:11746755|PMID:11849780|PMID:11996792|PMID:12149228|PMID:12473594|PMID:12697903|PMID:12810666|PMID:14735203|PMID:15042666|PMID:15280931|PMID:15756685|PMID:16199547|PMID:16631465|PMID:17124347|PMID:17351744|PMID:17393301|PMID:17490827|PMID:17517479|PMID:18701470|PMID:19404735|PMID:19638463|PMID:19781682|PMID:20305132|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21965147|PMID:22213089|PMID:22529920|PMID:22995991|PMID:23114601|PMID:23555315|PMID:23585524|PMID:23807571|PMID:23810757|PMID:24142997|PMID:24416720|PMID:24695838|PMID:24728327|PMID:24834793|PMID:25085752|PMID:25318351|PMID:25479140|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26123645|PMID:26467025|PMID:26681312|PMID:26787654|PMID:26898890|PMID:26917275|PMID:27150160|PMID:27153395|PMID:27375234|PMID:27568332|PMID:27782108|PMID:27913932|PMID:28202063|PMID:28492532|PMID:28495237|PMID:31382929|PMID:32522261|PMID:32986223|PMID:33134171|PMID:33181636|PMID:33280026|PMID:34009545|PMID:35716007|PMID:38002934|PMID:38415270|PMID:9872980|PMID:9887333 8708960 Atm ATM serine/threonine kinase gene DOID:684 hepatocellular carcinoma ISO RGD:1606040 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 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 20250722 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:11756177|PMID:16832357|PMID:17333338|PMID:19781682|PMID:20305132|PMID:24728327|PMID:25085752|PMID:25741868|PMID:26467025|PMID:26689913|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:34262154|PMID:34646395|PMID:35264596|PMID:35495172|PMID:35980532|PMID:37436117 8708960 Atm ATM serine/threonine kinase gene DOID:767 muscular atrophy ISO RGD:1606040 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Muscular atrophy PMID:11889466|PMID:12815592|PMID:14695534|PMID:19773425|PMID:22213089|PMID:25741868|PMID:28492532|PMID:31611883|PMID:9887333 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: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:8554872 20260519 ClinVar ClinVar Annotator: match by term: Neoplasm of stomach PMID:11606401|PMID:12149228|PMID:12473594|PMID:12697903|PMID:12810666|PMID:14735203|PMID:17490827|PMID:20305132|PMID:21787400|PMID:21792198|PMID:22213089|PMID:22529920|PMID:22995991|PMID:23114601|PMID:23555315|PMID:23810757|PMID:24142997|PMID:24695838|PMID:24728327|PMID:24834793|PMID:25085752|PMID:25318351|PMID:25479140|PMID:25587027|PMID:25625042|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26123645|PMID:26467025|PMID:26787654|PMID:26917275|PMID:27150160|PMID:27375234|PMID:27568332|PMID:28492532|PMID:32986223|PMID:33134171|PMID:33181636|PMID:33280026|PMID:38002934 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:9000495 Tremor ISO RGD:1606040 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Intention tremor PMID:11889466|PMID:12815592|PMID:14695534|PMID:19773425|PMID:22213089|PMID:25741868|PMID:28492532|PMID:31611883|PMID:9887333 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 ISO RGD:1606040 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia PMID:16832357|PMID:19781682|PMID:20305132|PMID:20346647|PMID:25085752|PMID:25741868|PMID:26467025|PMID:28259476|PMID:28492532|PMID:28779002|PMID:29522266|PMID:33436325|PMID:33471991|PMID:34326862|PMID:35467778|PMID:35716007|PMID:40403485 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:9001276 Failure to Thrive ISO RGD:1606040 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:11298136|PMID:12815592|PMID:23322442|PMID:25525159|PMID:25741868|PMID:28492532|PMID:8845835 8708960 Atm ATM serine/threonine kinase gene DOID:9001329 Tumor Predisposition Syndrome ISO RGD:1606040 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Tumor predisposition syndrome PMID:10873394|PMID:12072877|PMID:12497634|PMID:12637545|PMID:12815592|PMID:15101044|PMID:17699107|PMID:21665257|PMID:21965147|PMID:23322442|PMID:23807571|PMID:25614872|PMID:25741868|PMID:26778106|PMID:26845104|PMID:28152038|PMID:28492532|PMID:29506128|PMID:29915382|PMID:30274973|PMID:31050087|PMID:31447099|PMID:31741144|PMID:32338768|PMID:33436325|PMID:33471991|PMID:35154108|PMID:8845835|PMID:8968760|PMID:9450906 8708960 Atm ATM serine/threonine kinase gene DOID:9001722 Dysarthria ISO RGD:1606040 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Dysarthria PMID:23807571|PMID:25614872|PMID:25741868|PMID:27153395|PMID:28492532|PMID:9792409 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:9002453 Cafe-au-Lait Spots ISO RGD:1606040 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cafe-au-lait spot PMID:23807571|PMID:25614872|PMID:25741868|PMID:27153395|PMID:28492532|PMID:9792409 8708960 Atm ATM serine/threonine kinase gene DOID:9002563 Gait Ataxia ISO RGD:1606040 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gait ataxia PMID:11889466|PMID:12815592|PMID:14695534|PMID:19773425|PMID:22213089|PMID:23807571|PMID:25614872|PMID:25741868|PMID:27153395|PMID:28492532|PMID:30262796|PMID:31611883|PMID:8659541|PMID:9150358|PMID:9792409|PMID:9887333 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:9003694 Cecal Neoplasms ISO RGD:1606040 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cecal neoplasm PMID:11606401|PMID:12149228|PMID:12473594|PMID:12697903|PMID:12810666|PMID:14735203|PMID:17490827|PMID:20305132|PMID:21787400|PMID:21792198|PMID:22213089|PMID:22529920|PMID:22995991|PMID:23114601|PMID:23555315|PMID:23810757|PMID:24142997|PMID:24695838|PMID:24728327|PMID:24834793|PMID:25085752|PMID:25318351|PMID:25479140|PMID:25587027|PMID:25625042|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26123645|PMID:26467025|PMID:26787654|PMID:26917275|PMID:27150160|PMID:27375234|PMID:27568332|PMID:28492532|PMID:32986223|PMID:33134171|PMID:33181636|PMID:33280026|PMID:38002934 8708960 Atm ATM serine/threonine kinase gene DOID:9004083 Familial Pancreatic Carcinoma ISO RGD:1606040 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Familial pancreatic carcinoma PMID:25741868|PMID:26467025|PMID:26667234|PMID:27034805|PMID:28492532|PMID:32885271|PMID:39052144 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:9004866 Ataxia ISO RGD:1606040 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ataxia | ClinVar Annotator: match by term: Truncal ataxia PMID:11298136|PMID:12815592|PMID:23322442|PMID:23807571|PMID:25525159|PMID:25614872|PMID:25741868|PMID:27153395|PMID:28492532|PMID:8845835|PMID:9792409 8708960 Atm ATM serine/threonine kinase gene DOID:9005539 Familial Prostate Cancer ISO RGD:1606040 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial prostate cancer PMID:23807571|PMID:25614872|PMID:25741868|PMID:28492532 8708960 Atm ATM serine/threonine kinase gene DOID:9005603 Muscle Hypotonia ISO RGD:1606040 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hypotonia PMID:23807571|PMID:25614872|PMID:25741868|PMID:27153395|PMID:28492532|PMID:9792409 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:9006230 Neurologic Gait Disorders ISO RGD:1606040 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Unsteady gait PMID:25741868 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:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1606040 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 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 20260616 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:10425038|PMID:10464642|PMID:10677309|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11298136|PMID:11443540|PMID:11505391|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11849780|PMID:11889466|PMID:11897822|PMID:11996792|PMID:12091354|PMID:12149228|PMID:12362033|PMID:12473176|PMID:12473594|PMID:12552559|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12935922|PMID:12935933|PMID:133608|PMID:14634505|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15196260|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15643608|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16112413|PMID:16167060|PMID:16199547|PMID:16266405|PMID:16380133|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:17000706|PMID:17124347|PMID:17203191|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17576681|PMID:17640065|PMID:17670065|PMID:17876757|PMID:18164969|PMID:18321536|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18634022|PMID:18701470|PMID:19018867|PMID:19147735|PMID:19224889|PMID:19228710|PMID:19347964|PMID:19404735|PMID:19431188|PMID:1953577|PMID:19535770|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19773425|PMID:19781682|PMID:19823873|PMID:20077034|PMID:20153123|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20981092|PMID:21447618|PMID:21459046|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22071889|PMID:22200977|PMID:22213089|PMID:22250480|PMID:22420423|PMID:22438227|PMID:22520355|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22763152|PMID:22927308|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23125224|PMID:23211698|PMID:23242139|PMID:23272087|PMID:23322442|PMID:23360865|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23555315|PMID:23561644|PMID:23585524|PMID:23640770|PMID:23667852|PMID:23726790|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24113346|PMID:24142997|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24695838|PMID:24728327|PMID:24763289|PMID:24834793|PMID:2491181|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25085752|PMID:25122203|PMID:25159481|PMID:25186627|PMID:25318351|PMID:25452441|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25525159|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25793145|PMID:25877891|PMID:25957637|PMID:25980754|PMID:26010451|PMID:26098866|PMID:26123645|PMID:26181193|PMID:26247737|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26580448|PMID:26619011|PMID:26635394|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26771497|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26896183|PMID:26898890|PMID:26911350|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27067391|PMID:27083775|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27224988|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27443514|PMID:27468087|PMID:27479817|PMID:27535334|PMID:27568332|PMID:27596957|PMID:27599564|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27779110|PMID:27782108|PMID:27878467|PMID:27879207|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27989354|PMID:28054583|PMID:28076423|PMID:28123174|PMID:28135048|PMID:28135145|PMID:28202063|PMID:28259476|PMID:28281021|PMID:28423702|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28598434|PMID:28640387|PMID:28652578|PMID:28687971|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28843361|PMID:28873162|PMID:28888541|PMID:28975465|PMID:29025590|PMID:29053726|PMID:29059438 8708960 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20260616 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:29101607|PMID:29144541|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29470806|PMID:29478780|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29684080|PMID:29700634|PMID:29754934|PMID:29758562|PMID:29895855|PMID:29906526|PMID:29909963|PMID:29945567|PMID:29961768|PMID:30062048|PMID:30067863|PMID:30093976|PMID:30104763|PMID:30124550|PMID:30256826|PMID:30262796|PMID:30279689|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30338439|PMID:30363071|PMID:30426508|PMID:30541756|PMID:30549301|PMID:30563988|PMID:30579816|PMID:30607632|PMID:30613976|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30666157|PMID:30697212|PMID:30816533|PMID:30883245|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31118792|PMID:31159474|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31285527|PMID:31382929|PMID:31403082|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31611883|PMID:31642931|PMID:31658756|PMID:31719806|PMID:31729406|PMID:31741144|PMID:31742824|PMID:31780696|PMID:31794323|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31920950|PMID:31921190|PMID:31970404|PMID:32005694|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183364|PMID:32255556|PMID:32300177|PMID:32325837|PMID:32383162|PMID:32427313|PMID:32521533|PMID:32522261|PMID:32606146|PMID:32658311|PMID:32710489|PMID:32756499|PMID:32761968|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32866655|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32957588|PMID:32962506|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33012025|PMID:33083949|PMID:33095795|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33280026|PMID:33309985|PMID:33359728|PMID:33395407|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33646313|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33919281|PMID:33940787|PMID:34008015|PMID:34009545|PMID:34196900|PMID:34204722|PMID:34262154|PMID:34271781|PMID:34283047|PMID:34284872|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34371384|PMID:34433815|PMID:34573280|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34686943|PMID:34754157|PMID:34791078|PMID:34917121|PMID:35008949|PMID:35047863|PMID:35078243|PMID:35095854|PMID:35101336|PMID:35127508|PMID:35154108|PMID:35171259|PMID:35171529|PMID:35218119|PMID:35245693|PMID:35264596|PMID:35402282|PMID:35441217|PMID:35467778|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35585550|PMID:35716007|PMID:35717579|PMID:3574400|PMID:35806449|PMID:35884425|PMID:35886069|PMID:35980532|PMID:36008414|PMID:36029002|PMID:36035419|PMID:36099812|PMID:36117189|PMID:36135357|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36346689|PMID:36547062|PMID:36627197|PMID:36672847|PMID:36898365|PMID:36964972|PMID:36988593|PMID:37075885|PMID:37091313|PMID:37149759|PMID:37232349|PMID:37436117|PMID:37438524|PMID:38002934|PMID:38003901|PMID:38028594|PMID:38091153|PMID:38136308|PMID:38153744|PMID:38156855|PMID:38374194|PMID:38439815|PMID:38489015|PMID:38874686|PMID:38917355|PMID:39052144|PMID:39272813|PMID:39427061|PMID:39521281|PMID:39541563|PMID:39590369|PMID:40403485|PMID:40580951|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8797579|PMID:8808599|PMID:8845835|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9450906|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9792409|PMID:9872980|PMID:9887333 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:9007722 Myoclonus ISO RGD:1606040 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Myoclonus PMID:11889466|PMID:12815592|PMID:14695534|PMID:19773425|PMID:22213089|PMID:25741868|PMID:28492532|PMID:31611883|PMID:9887333 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:9008305 Talipes Cavus ISO RGD:1606040 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Pes cavus PMID:10425038|PMID:11889466|PMID:12815592|PMID:14695534|PMID:14754616|PMID:15101044|PMID:15280931|PMID:16574953|PMID:16652348|PMID:17000706|PMID:17341484|PMID:17351744|PMID:17502119|PMID:19773425|PMID:20826828|PMID:21833744|PMID:22213089|PMID:22529920|PMID:23585524|PMID:24728327|PMID:25085752|PMID:25741868|PMID:26467025|PMID:27146902|PMID:27224988|PMID:27365426|PMID:28492532|PMID:31611883|PMID:33191115|PMID:37091313|PMID:9792409|PMID:9887333 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: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 20250408 ClinVar 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:17632790|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 8708960 Atm ATM serine/threonine kinase gene DOID:9008952 Breast Cancer, Familial ISO RGD:1606040 D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast 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: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 8708960 Atm ATM serine/threonine kinase gene DOID:9008952 Breast Cancer, Familial ISO RGD:1606040 D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast 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: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 8708960 Atm ATM serine/threonine kinase gene DOID:9008952 Breast Cancer, Familial ISO RGD:1606040 D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast 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:32283892|PMID:32295079|PMID:32300177|PMID:32315455|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32366930|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:33758026|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:35982159|PMID:36000185|PMID:36003761|PMID:36008414|PMID:36018153|PMID:36029002|PMID:36035419 8708960 Atm ATM serine/threonine kinase gene DOID:9008952 Breast Cancer, Familial ISO RGD:1606040 D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:36091166|PMID:36094610|PMID:36099812|PMID:36117189|PMID:36119527|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:37201465|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:38496821|PMID:38509102|PMID:38520597|PMID:38570878|PMID:38697030|PMID:38854973|PMID:38874686|PMID:39085400|PMID:39138584|PMID:39226054|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:9008952 Breast Cancer, Familial ISO RGD:1606040 D RGD:8554872 20260616 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:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10464642|PMID:10677309|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11298136|PMID:11443540|PMID:11505391|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11849780|PMID:11889466|PMID:11897822|PMID:11996792|PMID:12149228|PMID:12362033|PMID:12473176|PMID:12473594|PMID:12552559|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12935933|PMID:133608|PMID:14634505|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15196260|PMID:15280931|PMID:15450731|PMID:15643608|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15880721|PMID:15928302|PMID:16112413|PMID:16167060|PMID:16199547|PMID:16266405|PMID:16380133|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:17000706|PMID:17124347|PMID:17203191|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17576681|PMID:17640065|PMID:17670065|PMID:17876757|PMID:18164969|PMID:18321536|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18634022|PMID:18701470|PMID:19018867|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19773425|PMID:19781682|PMID:19823873|PMID:20077034|PMID:20153123|PMID:20305132|PMID:20346647|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20981092|PMID:21447618|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22006793|PMID:22071889|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22250480|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22763152|PMID:22927308|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23125224|PMID:23242139|PMID:23272087|PMID:23322442|PMID:23360865|PMID:23376243|PMID:23454770|PMID:23555315|PMID:23561644|PMID:23585524|PMID:23726790|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24142997|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24695838|PMID:24728327|PMID:24834793|PMID:2491181|PMID:25037873|PMID:25085752|PMID:25122203|PMID:25159481|PMID:25186627|PMID:25318351|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25525159|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25793145|PMID:25877891|PMID:25980754|PMID:26010451|PMID:26098866|PMID:26123645|PMID:26181193|PMID:26247737|PMID:26317927|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26635394|PMID:26681312|PMID:26689913|PMID:26771497|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26911350|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27224988|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27468087|PMID:27535334|PMID:27568332|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27779110|PMID:27782108|PMID:27878467|PMID:27913932|PMID:27978560|PMID:27989354|PMID:28076423|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28259476|PMID:28281021|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28569743|PMID:28580595|PMID:28598434|PMID:28640387|PMID:28652578|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28843361|PMID:28873162|PMID:29053726|PMID:29059438|PMID:29101607|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29470806|PMID:29478780|PMID:29489040|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29684080|PMID:29909963|PMID:29945567|PMID:30067863|PMID:30093976|PMID:30104763|PMID:30256826|PMID:30262796|PMID:30279689|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30363071|PMID:30426508|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30613976|PMID:30625039|PMID:30639167|PMID:30666157|PMID:30697212|PMID:30816533|PMID:30883245|PMID:30995915|PMID:31050087 8708960 Atm ATM serine/threonine kinase gene DOID:9008952 Breast Cancer, Familial ISO RGD:1606040 D RGD:8554872 20260616 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:31159474|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31285527|PMID:31382929|PMID:31403082|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31432501|PMID:31472684|PMID:31497750|PMID:31611883|PMID:31658756|PMID:31719806|PMID:31729406|PMID:31742824|PMID:31780696|PMID:31794323|PMID:31843900|PMID:31871109|PMID:31911633|PMID:31920950|PMID:31921190|PMID:31970404|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183364|PMID:32300177|PMID:32325837|PMID:32383162|PMID:32427313|PMID:32521533|PMID:32522261|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32885271|PMID:32906206|PMID:32962506|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33083949|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33280026|PMID:33309985|PMID:33359728|PMID:33395407|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33552952|PMID:33646313|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33940787|PMID:34008015|PMID:34009545|PMID:34204722|PMID:34262154|PMID:34271781|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34371384|PMID:34573280|PMID:34646395|PMID:34686943|PMID:34791078|PMID:35008949|PMID:35047863|PMID:35078243|PMID:35101336|PMID:35171259|PMID:35171529|PMID:35218119|PMID:35260754|PMID:35264596|PMID:35402282|PMID:35441217|PMID:35467778|PMID:35495172|PMID:35534704|PMID:35716007|PMID:35717579|PMID:3574400|PMID:35980532|PMID:36008414|PMID:36029002|PMID:36099812|PMID:36117189|PMID:36135357|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36346689|PMID:36547062|PMID:36627197|PMID:36898365|PMID:36988593|PMID:37091313|PMID:37149759|PMID:37232349|PMID:37436117|PMID:37438524|PMID:38002934|PMID:38003901|PMID:38091153|PMID:38136308|PMID:38153744|PMID:38156855|PMID:38489015|PMID:39272813|PMID:39427061|PMID:39521281|PMID:39590369|PMID:40403485|PMID:40580951|PMID:8659541|PMID:8665503|PMID:8797579|PMID:8808599|PMID:8845835|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9450906|PMID:9452093|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9792409|PMID:9872980|PMID:9887333 8708960 Atm ATM serine/threonine kinase gene DOID:9009054 Colorectal Cancer 10 ISO RGD:1606040 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer type X PMID:11443540|PMID:16199547|PMID:19404735|PMID:19781682|PMID:21933854|PMID:23242139|PMID:23555315|PMID:23807571|PMID:25085752|PMID:25186627|PMID:25614872|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26898890|PMID:27720647|PMID:28492532|PMID:28652578|PMID:28779002|PMID:29665859|PMID:29684080|PMID:29945567|PMID:30287823|PMID:31206626|PMID:31871109|PMID:31920950|PMID:32068069|PMID:33280026|PMID:33471991|PMID:33552952|PMID:33804961|PMID:34262154|PMID:34284872|PMID:34326862|PMID:36243179|PMID:36315919|PMID:36898365|PMID:38874686|PMID:40580951 8708960 Atm ATM serine/threonine kinase gene DOID:9009054 Colorectal Cancer 10 ISO RGD:1606040 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer type X PMID:11443540|PMID:11897822|PMID:16199547|PMID:19404735|PMID:19781682|PMID:21933854|PMID:23242139|PMID:23555315|PMID:23807571|PMID:25085752|PMID:25186627|PMID:25614872|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26689913|PMID:26898890|PMID:27720647|PMID:28492532|PMID:28652578|PMID:28779002|PMID:29665859|PMID:29684080|PMID:29945567|PMID:30287823|PMID:31206626|PMID:31871109|PMID:31920950|PMID:32068069|PMID:33280026|PMID:33471991|PMID:33552952|PMID:33804961|PMID:34262154|PMID:34284872|PMID:34326862|PMID:35402282|PMID:36243179|PMID:36315919|PMID:36898365|PMID:38136308|PMID:38874686|PMID:40580951 8708960 Atm ATM serine/threonine kinase gene DOID:9119 acute myeloid leukemia ISO RGD:1606040 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:11849780|PMID:17124347|PMID:17517479|PMID:20077034|PMID:25741868|PMID:26467025|PMID:26635394|PMID:28492532|PMID:36315513|PMID:36547062|PMID:40580951|PMID:9887333 8708960 Atm ATM serine/threonine kinase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606040 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor of small intestine PMID:11606401|PMID:12149228|PMID:12473594|PMID:12697903|PMID:12810666|PMID:14735203|PMID:17490827|PMID:20305132|PMID:21787400|PMID:21792198|PMID:22213089|PMID:22529920|PMID:22995991|PMID:23114601|PMID:23555315|PMID:23810757|PMID:24142997|PMID:24695838|PMID:24728327|PMID:24834793|PMID:25085752|PMID:25318351|PMID:25479140|PMID:25587027|PMID:25625042|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26123645|PMID:26467025|PMID:26787654|PMID:26917275|PMID:27150160|PMID:27375234|PMID:27568332|PMID:28492532|PMID:32986223|PMID:33134171|PMID:33181636|PMID:33280026|PMID:38002934 8708960 Atm ATM serine/threonine kinase gene DOID:9256 colorectal cancer ISO RGD:1606040 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:10397742|PMID:10817650|PMID:11443540|PMID:11606401|PMID:11996792|PMID:12149228|PMID:12473594|PMID:12697903|PMID:12810666|PMID:14735203|PMID:15042666|PMID:15280931|PMID:15756685|PMID:16631465|PMID:17124347|PMID:17351744|PMID:17393301|PMID:17490827|PMID:18701470|PMID:19404735|PMID:19638463|PMID:19781682|PMID:20305132|PMID:21787400|PMID:21792198|PMID:22213089|PMID:22529920|PMID:22995991|PMID:23114601|PMID:23555315|PMID:23585524|PMID:23810757|PMID:24142997|PMID:24416720|PMID:24695838|PMID:24728327|PMID:24834793|PMID:25085752|PMID:25318351|PMID:25479140|PMID:25587027|PMID:25625042|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26123645|PMID:26467025|PMID:26787654|PMID:26898890|PMID:26917275|PMID:27150160|PMID:27153395|PMID:27375234|PMID:27568332|PMID:27782108|PMID:28054583|PMID:28202063|PMID:28492532|PMID:31382929|PMID:32522261|PMID:32986223|PMID:33134171|PMID:33181636|PMID:33280026|PMID:34009545|PMID:38002934|PMID:9872980|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: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:0051061 stroke ISO RGD:1314443 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16269634 8709027 Smox spermine oxidase gene DOID:11054 urinary bladder cancer ISO RGD:1314443 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 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:5746 ovarian serous cystadenocarcinoma ISO RGD:1314443 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8709027 Smox spermine oxidase gene DOID:684 hepatocellular carcinoma ISO RGD:1314443 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8709027 Smox spermine oxidase gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1314443 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8709027 Smox spermine oxidase gene DOID:9008952 Breast Cancer, Familial ISO RGD:1314443 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8709056 Pheta1 PH domain containing endocytic trafficking adaptor 1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1602835 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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:0050387 nonpapillary renal cell carcinoma ISO RGD:1323302 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8709063 Hdac11 histone deacetylase 11 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1323302 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8709063 Hdac11 histone deacetylase 11 gene DOID:10534 stomach cancer ISO RGD:1323302 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8709063 Hdac11 histone deacetylase 11 gene DOID:1115 sarcoma ISO RGD:1323302 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8709063 Hdac11 histone deacetylase 11 gene DOID:1909 melanoma ISO RGD:1323302 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8709063 Hdac11 histone deacetylase 11 gene DOID:234 colon adenocarcinoma ISO RGD:1323302 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8709063 Hdac11 histone deacetylase 11 gene DOID:684 hepatocellular carcinoma ISO RGD:1323302 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8709063 Hdac11 histone deacetylase 11 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1323302 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial prostate cancer 8709063 Hdac11 histone deacetylase 11 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1323302 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 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:5746 ovarian serous cystadenocarcinoma ISO RGD:1352981 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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 8709129 Wdr89 WD repeat domain 89 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1316567 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8709129 Wdr89 WD repeat domain 89 gene DOID:1324 lung cancer ISO RGD:1316567 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8709129 Wdr89 WD repeat domain 89 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1316567 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8709157 Asxl2 ASXL transcriptional regulator 2 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1312315 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8709157 Asxl2 ASXL transcriptional regulator 2 gene DOID:0050848 obstructive sleep apnea ISO RGD:1312315 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Obstructive sleep apnea syndrome PMID:27693232 8709157 Asxl2 ASXL transcriptional regulator 2 gene DOID:0050888 syndromic intellectual disability ISO RGD:1312315 D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: syndromic intellectual disability PMID:25741868|PMID:28492532 8709157 Asxl2 ASXL transcriptional regulator 2 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1312315 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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:0060260 ptosis ISO RGD:1312315 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ptosis PMID:27693232 8709157 Asxl2 ASXL transcriptional regulator 2 gene DOID:10534 stomach cancer ISO RGD:1312315 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 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:1168 familial hyperlipidemia ISO RGD:1312315 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hyperlipidemia PMID:27693232 8709157 Asxl2 ASXL transcriptional regulator 2 gene DOID:12849 autistic disorder ISO RGD:1312315 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:27693232 8709157 Asxl2 ASXL transcriptional regulator 2 gene DOID:1324 lung cancer ISO RGD:1312315 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8709157 Asxl2 ASXL transcriptional regulator 2 gene DOID:2018 hyperinsulinism ISO RGD:1312315 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hyperinsulinemia PMID:27693232 8709157 Asxl2 ASXL transcriptional regulator 2 gene DOID:255 hemangioma ISO RGD:1312315 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Glabellar hemangioma PMID:27693232 8709157 Asxl2 ASXL transcriptional regulator 2 gene DOID:2725 capillary hemangioma ISO RGD:1312315 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Capillary hemangioma PMID:27693232 8709157 Asxl2 ASXL transcriptional regulator 2 gene DOID:2843 long QT syndrome ISO RGD:1312315 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:27693232 8709157 Asxl2 ASXL transcriptional regulator 2 gene DOID:4481 allergic rhinitis ISO RGD:1312315 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Allergic rhinitis PMID:27693232 8709157 Asxl2 ASXL transcriptional regulator 2 gene DOID:4947 cholangiocarcinoma ISO RGD:1312315 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 8709157 Asxl2 ASXL transcriptional regulator 2 gene DOID:5041 esophageal cancer ISO RGD:1312315 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8709157 Asxl2 ASXL transcriptional regulator 2 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1312315 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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:9001502 Congenital Microtia ISO RGD:1312315 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Microtia PMID:27693232 8709157 Asxl2 ASXL transcriptional regulator 2 gene DOID:9001616 Port-Wine Stain ISO RGD:1312315 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nevus flammeus PMID:27693232 8709157 Asxl2 ASXL transcriptional regulator 2 gene DOID:9003133 Hypertelorism ISO RGD:1312315 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:27693232 8709157 Asxl2 ASXL transcriptional regulator 2 gene DOID:9003507 Premature Birth ISO RGD:1312315 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Premature birth PMID:27693232 8709157 Asxl2 ASXL transcriptional regulator 2 gene DOID:9003591 Telecanthus ISO RGD:1312315 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Telecanthus PMID:27693232 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 20260519 ClinVar ClinVar Annotator: match by term: ASXL2-related condition | ClinVar Annotator: match by term: SHASHI-PENA SYNDROME | ClinVar Annotator: match by term: Shashi-Pena syndrome PMID:25741868|PMID:27693232|PMID:28492532|PMID:28516957|PMID:30251205|PMID:35101336 8709157 Asxl2 ASXL transcriptional regulator 2 gene DOID:9003816 Macrocephaly ISO RGD:1312315 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Macrocephaly PMID:27693232 8709157 Asxl2 ASXL transcriptional regulator 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312315 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532 8709157 Asxl2 ASXL transcriptional regulator 2 gene DOID:9005603 Muscle Hypotonia ISO RGD:1312315 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:27693232 8709157 Asxl2 ASXL transcriptional regulator 2 gene DOID:9006009 Neonatal Hypoglycemia, Simulating Foetopathia Diabetica ISO RGD:1312315 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Neonatal hypoglycemia PMID:27693232 8709157 Asxl2 ASXL transcriptional regulator 2 gene DOID:9007692 Insulin Resistance ISO RGD:1312315 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Insulin resistance PMID:27693232 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:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8709157 Asxl2 ASXL transcriptional regulator 2 gene DOID:9452 steatotic liver disease ISO RGD:1312315 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatic steatosis PMID:27693232 8709157 Asxl2 ASXL transcriptional regulator 2 gene DOID:9970 obesity ISO RGD:1312315 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Obesity PMID:27693232 8709179 Plcg2 phospholipase C gamma 2 gene DOID:0050117 disease by infectious agent ISO RGD:732989 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Recurrent infections PMID:25741868|PMID:28492532|PMID:32894242|PMID:33936634 8709179 Plcg2 phospholipase C gamma 2 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:732989 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 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:0050939 uterine corpus endometrial carcinoma ISO RGD:732989 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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 20260519 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 | ClinVar Annotator: match by term: PLCG2-related disorder PMID:17576681|PMID:24033266|PMID:25741868|PMID:28166811|PMID:28492532|PMID:29921932|PMID:32894242|PMID:33936634|PMID:37769878|PMID:9536098 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 20260602 ClinVar ClinVar Annotator: match by term: ANTIBODY DEFICIENCY AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED | ClinVar Annotator: match by term: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3 | ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 3 PMID:16199547|PMID:17576681|PMID:24033266|PMID:25640679|PMID:25741868|PMID:27542411|PMID:27577878|PMID:28166811|PMID:28492532|PMID:29590070|PMID:29921932|PMID:30273710|PMID:30344948|PMID:31853824|PMID:32047491|PMID:32185379|PMID:32671674|PMID:32853466|PMID:32894242|PMID:33859323|PMID:33936634|PMID:34329649|PMID:35753512|PMID:36113963|PMID:36166305|PMID:37094224|PMID:37714437|PMID:37769878|PMID:38790019|PMID:39369972|PMID:9536098 8709179 Plcg2 phospholipase C gamma 2 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:732989 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:25741868|PMID:28492532|PMID:32894242|PMID:33936634 8709179 Plcg2 phospholipase C gamma 2 gene DOID:10534 stomach cancer ISO RGD:732989 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:25741868|PMID:28492532 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:11830 myopia ISO RGD:732989 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Myopia PMID:25741868|PMID:28492532|PMID:32894242|PMID:33936634 8709179 Plcg2 phospholipase C gamma 2 gene DOID:1210 optic neuritis ISO RGD:732989 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Optic neuritis PMID:25741868 8709179 Plcg2 phospholipase C gamma 2 gene DOID:1287 cardiovascular system disease ISO RGD:732989 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Abnormality of the cardiovascular system PMID:25741868|PMID:28492532|PMID:32894242|PMID:33936634 8709179 Plcg2 phospholipase C gamma 2 gene DOID:1324 lung cancer ISO RGD:732989 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: EGFR-related lung cancer | ClinVar Annotator: match by term: Lung cancer PMID:28492532 8709179 Plcg2 phospholipase C gamma 2 gene DOID:1389 polyneuropathy ISO RGD:732989 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Polyneuropathy PMID:25741868 8709179 Plcg2 phospholipase C gamma 2 gene DOID:1596 depressive disorder ISO RGD:732989 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Depression PMID:25741868|PMID:28492532|PMID:32894242|PMID:33936634 8709179 Plcg2 phospholipase C gamma 2 gene DOID:2030 anxiety disorder ISO RGD:732989 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Anxiety PMID:25741868|PMID:28492532|PMID:32894242|PMID:33936634 8709179 Plcg2 phospholipase C gamma 2 gene DOID:234 colon adenocarcinoma ISO RGD:732989 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma PMID:25741868|PMID:28492532 8709179 Plcg2 phospholipase C gamma 2 gene DOID:2841 asthma ISO RGD:732989 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Asthma | ClinVar Annotator: match by term: asthma PMID:25741868|PMID:28492532|PMID:29590070|PMID:32894242|PMID:33936634 8709179 Plcg2 phospholipase C gamma 2 gene DOID:4947 cholangiocarcinoma ISO RGD:732989 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 8709179 Plcg2 phospholipase C gamma 2 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:732989 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8709179 Plcg2 phospholipase C gamma 2 gene DOID:630 genetic disease ISO RGD:732989 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:37769878 8709179 Plcg2 phospholipase C gamma 2 gene DOID:684 hepatocellular carcinoma ISO RGD:732989 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8709179 Plcg2 phospholipase C gamma 2 gene DOID:9000808 Hypercholesterolemia ISO RGD:732989 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia PMID:25741868|PMID:28492532|PMID:32894242|PMID:33936634 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:9005219 Abnormal Reflexes ISO RGD:732989 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hyporeflexia PMID:25741868 8709179 Plcg2 phospholipase C gamma 2 gene DOID:9006880 Urinary Incontinence ISO RGD:732989 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Urinary incontinence PMID:25741868 8709179 Plcg2 phospholipase C gamma 2 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:732989 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 PMID:28492532 8709179 Plcg2 phospholipase C gamma 2 gene DOID:9008173 Paraparesis ISO RGD:732989 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Paraparesis PMID:25741868 8709179 Plcg2 phospholipase C gamma 2 gene DOID:9008305 Talipes Cavus ISO RGD:732989 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Pes cavus PMID:25741868 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:9008952 Breast Cancer, Familial ISO RGD:732989 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868|PMID:28492532 8709179 Plcg2 phospholipase C gamma 2 gene DOID:9119 acute myeloid leukemia ISO RGD:732989 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8709179 Plcg2 phospholipase C gamma 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:732989 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:25741868|PMID:28492532|PMID:32894242|PMID:33936634 8709179 Plcg2 phospholipase C gamma 2 gene DOID:9970 obesity ISO RGD:732989 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Obesity PMID:25741868|PMID:28492532|PMID:32894242|PMID:33936634 8709218 Mcm10 minichromosome maintenance 10 replication initiation factor gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1322725 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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 20260602 ClinVar ClinVar Annotator: match by term: Immunodeficiency 80 with or without congenital cardiomyopathy PMID:25741868 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:10534 stomach cancer ISO RGD:1322725 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8709218 Mcm10 minichromosome maintenance 10 replication initiation factor gene DOID:1115 sarcoma ISO RGD:1322725 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8709218 Mcm10 minichromosome maintenance 10 replication initiation factor gene DOID:1324 lung cancer ISO RGD:1322725 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8709218 Mcm10 minichromosome maintenance 10 replication initiation factor gene DOID:3070 high grade glioma ISO RGD:1322725 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Glioma susceptibility 1 8709218 Mcm10 minichromosome maintenance 10 replication initiation factor gene DOID:3275 thymoma ISO RGD:1322725 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8709218 Mcm10 minichromosome maintenance 10 replication initiation factor gene DOID:4362 cervical cancer ISO RGD:1322725 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8709218 Mcm10 minichromosome maintenance 10 replication initiation factor gene DOID:5041 esophageal cancer ISO RGD:1322725 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8709218 Mcm10 minichromosome maintenance 10 replication initiation factor gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1322725 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8709218 Mcm10 minichromosome maintenance 10 replication initiation factor gene DOID:6171 uterine carcinosarcoma ISO RGD:1322725 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8709218 Mcm10 minichromosome maintenance 10 replication initiation factor gene DOID:684 hepatocellular carcinoma ISO RGD:1322725 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8709218 Mcm10 minichromosome maintenance 10 replication initiation factor gene DOID:9008952 Breast Cancer, Familial ISO RGD:1322725 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8709218 Mcm10 minichromosome maintenance 10 replication initiation factor gene DOID:9119 acute myeloid leukemia ISO RGD:1322725 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8709255 Trim65 tripartite motif containing 65 gene DOID:10534 stomach cancer ISO RGD:1352380 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8709255 Trim65 tripartite motif containing 65 gene DOID:1909 melanoma ISO RGD:1352380 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8709255 Trim65 tripartite motif containing 65 gene DOID:234 colon adenocarcinoma ISO RGD:1352380 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8709255 Trim65 tripartite motif containing 65 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1352380 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8709255 Trim65 tripartite motif containing 65 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1352380 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8709267 Capzb capping actin protein of muscle Z-line subunit beta gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1347618 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8709267 Capzb capping actin protein of muscle Z-line subunit beta gene DOID:10534 stomach cancer ISO RGD:1347618 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8709267 Capzb capping actin protein of muscle Z-line subunit beta gene DOID:11054 urinary bladder cancer ISO RGD:1347618 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8709267 Capzb capping actin protein of muscle Z-line subunit beta gene DOID:1115 sarcoma ISO RGD:1347618 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 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:3275 thymoma ISO RGD:1347618 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8709267 Capzb capping actin protein of muscle Z-line subunit beta gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1347618 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 8709267 Capzb capping actin protein of muscle Z-line subunit beta gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1347618 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8709267 Capzb capping actin protein of muscle Z-line subunit beta gene DOID:684 hepatocellular carcinoma ISO RGD:1347618 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 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 8709267 Capzb capping actin protein of muscle Z-line subunit beta gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1347618 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8709267 Capzb capping actin protein of muscle Z-line subunit beta gene DOID:9008952 Breast Cancer, Familial ISO RGD:1347618 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8709267 Capzb capping actin protein of muscle Z-line subunit beta gene DOID:9119 acute myeloid leukemia ISO RGD:1347618 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8709291 Pola2 DNA polymerase alpha 2, accessory subunit gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:731623 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8709291 Pola2 DNA polymerase alpha 2, accessory subunit gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:731623 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8709291 Pola2 DNA polymerase alpha 2, accessory subunit gene DOID:0060058 lymphoma ISO RGD:731623 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lymphoma 8709291 Pola2 DNA polymerase alpha 2, accessory subunit gene DOID:0061213 telomere biology disorder ISO RGD:731623 D RGD:8554872 20251104 ClinVar ClinVar Annotator: match by term: Telomere Biology Disorder PMID:25741868 8709291 Pola2 DNA polymerase alpha 2, accessory subunit gene DOID:11054 urinary bladder cancer ISO RGD:731623 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8709291 Pola2 DNA polymerase alpha 2, accessory subunit gene DOID:1115 sarcoma ISO RGD:731623 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8709291 Pola2 DNA polymerase alpha 2, accessory subunit gene DOID:1324 lung cancer ISO RGD:731623 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8709291 Pola2 DNA polymerase alpha 2, accessory subunit gene DOID:4362 cervical cancer ISO RGD:731623 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8709291 Pola2 DNA polymerase alpha 2, accessory subunit gene DOID:5041 esophageal cancer ISO RGD:731623 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8709291 Pola2 DNA polymerase alpha 2, accessory subunit gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:731623 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8709291 Pola2 DNA polymerase alpha 2, accessory subunit gene DOID:6171 uterine carcinosarcoma ISO RGD:731623 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8709291 Pola2 DNA polymerase alpha 2, accessory subunit gene DOID:9005024 Hereditary Adrenocortical Carcinoma ISO RGD:731623 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary 8709291 Pola2 DNA polymerase alpha 2, accessory subunit gene DOID:9008952 Breast Cancer, Familial ISO RGD:731623 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8709322 Kitlg KIT ligand gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:737118 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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 20260602 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:24033266|PMID:25741868|PMID:28492532|PMID:33229591 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 20260602 ClinVar ClinVar Annotator: match by term: HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, FAMILIAL PROGRESSIVE | ClinVar Annotator: match by term: Hyperpigmentation with or without hypopigmentation, familial progressive | ClinVar Annotator: match by term: MELANOSIS UNIVERSALIS HEREDITARIA PMID:24033266|PMID:25741868|PMID:28492532 8709322 Kitlg KIT ligand gene DOID:10003 sensorineural hearing loss ISO RGD:737118 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Congenital sensorineural hearing impairment 8709322 Kitlg KIT ligand gene DOID:12365 malaria ISO RGD:737118 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Malaria, susceptibility to 8709322 Kitlg KIT ligand gene DOID:1324 lung cancer ISO RGD:737118 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 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:1909 melanoma ISO RGD:737118 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 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:3275 thymoma ISO RGD:737118 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 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:4362 cervical cancer ISO RGD:737118 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8709322 Kitlg KIT ligand gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:737118 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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 20260602 ClinVar ClinVar Annotator: match by term: WAARDENBURG SYNDROME, TYPE 2F 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:9004538 Hearing Loss ISO RGD:737118 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:25741868 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 20260602 ClinVar ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 7, BLOND/BROWN HAIR | ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 7, DARK/LIGHT SKIN | ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 7 PMID:24033266|PMID:25741868|PMID:28492532 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:9007495 Hereditary Congenital Hypopigmented and Hyperpigmented Macules ISO RGD:737118 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Congenital hypomelanotic and hypermelanotic macules PMID:24033266|PMID:25741868|PMID:28492532 8709322 Kitlg KIT ligand gene DOID:9119 acute myeloid leukemia ISO RGD:737118 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 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:0081044 frontonasal dysplasia ISO RGD:1352384 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Frontorhiny PMID:25741868 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 20260602 ClinVar ClinVar Annotator: match by term: ALX3-related condition | ClinVar Annotator: match by term: FRONTONASAL DYSPLASIA 1 PMID:19409524|PMID:28492532 8709367 Alx3 ALX homeobox 3 gene DOID:1324 lung cancer ISO RGD:1352384 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8709367 Alx3 ALX homeobox 3 gene DOID:1909 melanoma ISO RGD:1352384 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8709367 Alx3 ALX homeobox 3 gene DOID:630 genetic disease ISO RGD:1352384 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8709375 Mbd1 methyl-CpG binding domain protein 1 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1314332 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8709375 Mbd1 methyl-CpG binding domain protein 1 gene DOID:10534 stomach cancer ISO RGD:1314332 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8709375 Mbd1 methyl-CpG binding domain protein 1 gene DOID:11054 urinary bladder cancer ISO RGD:1314332 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 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 ISO RGD:1314332 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 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:1909 melanoma ISO RGD:1314332 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 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:234 colon adenocarcinoma ISO RGD:1314332 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8709375 Mbd1 methyl-CpG binding domain protein 1 gene DOID:3070 high grade glioma ISO RGD:1314332 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Glioma susceptibility 1 8709375 Mbd1 methyl-CpG binding domain protein 1 gene DOID:3275 thymoma ISO RGD:1314332 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8709375 Mbd1 methyl-CpG binding domain protein 1 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1314332 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma 8709375 Mbd1 methyl-CpG binding domain protein 1 gene DOID:5041 esophageal cancer ISO RGD:1314332 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8709375 Mbd1 methyl-CpG binding domain protein 1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1314332 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 8709375 Mbd1 methyl-CpG binding domain protein 1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1314332 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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:9003566 Mesothelioma ISO RGD:1314332 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Mesothelioma 8709375 Mbd1 methyl-CpG binding domain protein 1 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1314332 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 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 8709375 Mbd1 methyl-CpG binding domain protein 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1314332 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8709424 Crct1 cysteine rich C-terminal 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1353300 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:0050117 disease by infectious agent ISO RGD:1348983 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Recurrent infections PMID:24033266|PMID:25637381|PMID:25741868|PMID:26251183|PMID:26467025|PMID:26845104|PMID:28195393|PMID:28492532|PMID:29120461|PMID:29641532|PMID:30267214|PMID:30917185|PMID:35534704 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1348983 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma PMID:25741868|PMID:26467025|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:0050424 familial adenomatous polyposis ISO RGD:1348983 D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Classic or attenuated familial adenomatous polyposis | ClinVar Annotator: match by term: Polymerase proofreading-related adenomatous polyposis PMID:16699561|PMID:20951805|PMID:21157497|PMID:22980975|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23636398|PMID:24033266|PMID:24501277|PMID:24525744|PMID:25079317|PMID:25124163|PMID:25224212|PMID:25370038|PMID:25529843|PMID:25559809|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25948378|PMID:25986922|PMID:26251183|PMID:26467025|PMID:26493165|PMID:26748215|PMID:26822575|PMID:26845104|PMID:27683556|PMID:28202063|PMID:28427513|PMID:28492532|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29212164|PMID:29754823|PMID:29987844|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30362666|PMID:30374176|PMID:30503519|PMID:30665374|PMID:30827058|PMID:31160353|PMID:31308508|PMID:31360874|PMID:31480372|PMID:32424176|PMID:32522261|PMID:32546565|PMID:32792570|PMID:32984025|PMID:34326862|PMID:34749799|PMID:35108036|PMID:35264596|PMID:35534205|PMID:35534704|PMID:35624529|PMID:37460928 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:0050424 familial adenomatous polyposis ISO RGD:1348983 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Classic or attenuated familial adenomatous polyposis | ClinVar Annotator: match by term: MYH-associated polyposis | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL | ClinVar Annotator: match by term: Polymerase proofreading-related adenomatous polyposis | ClinVar Annotator: match by term: classic or attenuated familial adenomatous polyposis PMID:20951805|PMID:22980975|PMID:23230001|PMID:23447401|PMID:24033266|PMID:25224212|PMID:25741868|PMID:25948378|PMID:26467025|PMID:28427513|PMID:28492532|PMID:28873162|PMID:29056344|PMID:29212164|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30503519|PMID:30665374|PMID:32792570|PMID:32984025|PMID:34326862|PMID:35534704|PMID:37460928|PMID:37848928 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1348983 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma PMID:20951805|PMID:23230001|PMID:25224212|PMID:25741868|PMID:25948378|PMID:26467025|PMID:28492532|PMID:30503519|PMID:37848928 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:0080199 colorectal carcinoma ISO RGD:1348983 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colorectal carcinoma PMID:25224212|PMID:25529843|PMID:26822575|PMID:28117753|PMID:28423643|PMID:28492532|PMID:28776572|PMID:29120461|PMID:29301327|PMID:30503519|PMID:30608896|PMID:32424176 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:0080684 diffuse midline glioma, H3 K27-altered ISO RGD:1348983 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Diffuse midline glioma, H3 K27-altered PMID:25741868|PMID:28492532 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:0081277 diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype ISO RGD:1348983 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype PMID:25642631|PMID:25740784|PMID:27993330|PMID:28912153|PMID:29056344|PMID:29763623|PMID:33355208|PMID:36856825|PMID:38219146 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:10283 prostate cancer ISO RGD:1348983 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Prostate cancer PMID:26467025|PMID:26845104|PMID:27720647|PMID:28492532|PMID:31866764|PMID:32546565|PMID:32567205 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:10534 stomach cancer ISO RGD:1348983 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:25741868|PMID:26467025|PMID:28492532 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:1059 intellectual disability ISO RGD:1348983 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:28492532 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:11054 urinary bladder cancer ISO RGD:1348983 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder PMID:16199547|PMID:23230001|PMID:25741868|PMID:25948378|PMID:28492532|PMID:30503519 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:1115 sarcoma ISO RGD:1348983 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma PMID:25741868|PMID:26467025|PMID:28492532 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:11830 myopia ISO RGD:1348983 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Myopia PMID:24033266|PMID:25741868|PMID:26467025|PMID:27701467|PMID:28492532|PMID:30267214|PMID:35534704 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:12849 autistic disorder ISO RGD:1348983 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior PMID:28492532 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:1287 cardiovascular system disease ISO RGD:1348983 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Abnormality of the cardiovascular system PMID:24033266|PMID:25741868|PMID:28492532 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:12930 dilated cardiomyopathy ISO RGD:1348983 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:26467025|PMID:28492532 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:1324 lung cancer ISO RGD:1348983 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer PMID:25741868|PMID:26467025|PMID:28492532 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:14566 disease of cellular proliferation ISO RGD:1348983 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Neoplasm PMID:25741868|PMID:26467025|PMID:28492532|PMID:35101336|PMID:36402816 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 20260616 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma PMID:16199547|PMID:23230001|PMID:24480973|PMID:24525744|PMID:25741868|PMID:25948378|PMID:26467025|PMID:28492532|PMID:30503519 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:1596 depressive disorder ISO RGD:1348983 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Depression PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30267214|PMID:35534704 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:1612 breast cancer ISO RGD:1348983 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Breast Cancer | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant tumor of breast PMID:23263490|PMID:25741868|PMID:26251183|PMID:26302956|PMID:26467025|PMID:27153395|PMID:28492532|PMID:28857155|PMID:28873162|PMID:30267214|PMID:30503519|PMID:31265121|PMID:31970404|PMID:32522261|PMID:32792570|PMID:32885271|PMID:33558524|PMID:34326862|PMID:35264596|PMID:37848928 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:1909 melanoma ISO RGD:1348983 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma PMID:24788313|PMID:25741868|PMID:26467025|PMID:27993330|PMID:28492532|PMID:30368636|PMID:31415061|PMID:39888082 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:1984 rectal benign neoplasm ISO RGD:1348983 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Rectal neoplasm PMID:25741868|PMID:28492532 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:2030 anxiety disorder ISO RGD:1348983 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Anxiety PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30267214|PMID:35534704 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 20260519 ClinVar ClinVar Annotator: match by term: Colon cancer PMID:25741868|PMID:26467025|PMID:27701467|PMID:28492532 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:234 colon adenocarcinoma ISO RGD:1348983 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma PMID:25741868|PMID:26467025|PMID:28492532 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:2355 anemia ISO RGD:1348983 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Anemia PMID:26467025|PMID:28492532 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:2394 ovarian cancer ISO RGD:1348983 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial ovarian cancer 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:2841 asthma ISO RGD:1348983 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Asthma PMID:24033266|PMID:25637381|PMID:25741868|PMID:26251183|PMID:26467025|PMID:26845104|PMID:28195393|PMID:28492532|PMID:29120461|PMID:29641532|PMID:30267214|PMID:30917185|PMID:35534704 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:2871 endometrial carcinoma ISO RGD:1348983 D RGD:9068941 20260521 RGD DNA:mutations:multiple (human) PMID:23528559|REF_RGD_ID:151347856 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:3042 allergic contact dermatitis ISO RGD:1348983 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Atopic eczema PMID:25741868|PMID:28492532 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:3070 high grade glioma ISO RGD:1348983 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Pediatric high-grade glioma PMID:25741868|PMID:26467025|PMID:28492532|PMID:31265121|PMID:31970404|PMID:32522261|PMID:32792570 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:3087 gingivitis ISO RGD:1348983 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gingivitis PMID:25741868|PMID:28492532 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:3275 thymoma ISO RGD:1348983 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma PMID:25741868|PMID:26467025|PMID:28492532 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:3310 atopic dermatitis ISO RGD:1348983 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Atopic eczema PMID:25741868|PMID:28492532 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:3312 bipolar disorder ISO RGD:1348983 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Bipolar affective disorder PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30267214|PMID:35534704 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:3459 breast carcinoma ISO RGD:1348983 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Breast carcinoma PMID:16199547|PMID:23230001|PMID:25741868|PMID:25948378|PMID:26467025|PMID:28492532|PMID:30503519|PMID:30665374 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: Central core myopathy PMID:24033266|PMID:25741868|PMID:26467025|PMID:27854218|PMID:28492532 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:3907 lung squamous cell carcinoma ISO RGD:1348983 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma 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:4362 cervical cancer ISO RGD:1348983 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer PMID:25741868|PMID:26467025|PMID:28492532 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:4947 cholangiocarcinoma ISO RGD:1348983 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma PMID:25741868|PMID:26467025|PMID:28492532 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:5041 esophageal cancer ISO RGD:1348983 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus PMID:25741868|PMID:26467025|PMID:28492532 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:535 sleep disorder ISO RGD:1348983 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sleep disturbance PMID:28492532 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1348983 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:17576681|PMID:28492532|PMID:9536098 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1348983 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma PMID:16199547|PMID:23230001|PMID:25741868|PMID:25948378|PMID:26467025|PMID:28492532|PMID:30503519 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:6171 uterine carcinosarcoma ISO RGD:1348983 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:684 hepatocellular carcinoma ISO RGD:1348983 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:25741868|PMID:26467025|PMID:28492532 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:7148 rheumatoid arthritis ISO RGD:1348983 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Rheumatoid arthritis PMID:25741868|PMID:27701467|PMID:28492532 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:7998 hyperthyroidism ISO RGD:1348983 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hyperthyroidism PMID:24033266|PMID:25741868|PMID:26467025|PMID:27701467|PMID:28492532|PMID:30267214|PMID:35534704 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:8778 Crohn's disease ISO RGD:1348983 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Crohn disease PMID:25741868|PMID:28492532 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9000282 IMAGEI Syndrome ISO RGD:1348983 D RGD:8554872 20260519 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 | ClinVar Annotator: match by term: Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency PMID:17576681|PMID:20091185|PMID:21129811|PMID:23230001|PMID:23263490|PMID:24033266|PMID:24525744|PMID:25124163|PMID:25741868|PMID:25948378|PMID:26467025|PMID:26763250|PMID:27153395|PMID:28195393|PMID:28202063|PMID:28427513|PMID:28492532|PMID:28873162|PMID:28878254|PMID:29056344|PMID:29212164|PMID:29987844|PMID:30503519|PMID:30917185|PMID:31769227|PMID:32091409|PMID:32546565|PMID:32792570|PMID:32973888|PMID:33872653|PMID:34326862|PMID:35534704|PMID:36315513|PMID:37088804|PMID:37460928|PMID:9536098 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9000282 IMAGEI Syndrome susceptibility ISO RGD:1348983 D RGD:7240710 20260701 OMIM 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9000351 Diarrhea 9 ISO RGD:1348983 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Chronic diarrhea PMID:26467025|PMID:28492532 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9000808 Hypercholesterolemia ISO RGD:1348983 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia PMID:28492532 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9001733 Tinnitus ISO RGD:1348983 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Tinnitus PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30267214|PMID:35534704 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9002775 Cognitive Dysfunction ISO RGD:1348983 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cognitive impairment PMID:28492532 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9003507 Premature Birth ISO RGD:1348983 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Premature birth PMID:24033266|PMID:25637381|PMID:25741868|PMID:26251183|PMID:26467025|PMID:26845104|PMID:28195393|PMID:28492532|PMID:29120461|PMID:29641532|PMID:30267214|PMID:30917185 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9003539 Hyperacusis ISO RGD:1348983 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hyperacusis PMID:28492532 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:9004268 Uterine Neoplasms ISO RGD:1348983 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Neoplasm of uterus PMID:28492532 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1348983 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 PMID:20951805|PMID:25224212|PMID:25741868|PMID:26467025|PMID:28492532|PMID:37848928 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 20250701 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: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: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: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:27379089|PMID:27683556|PMID:27701467|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:28724667|PMID:28857155|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29454559|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:30680046|PMID:30765821|PMID:30827058|PMID:30833958|PMID:30877237|PMID:30917185|PMID:31034466|PMID:31160353|PMID:31265121|PMID:31285513|PMID:31308508|PMID:31360874|PMID:31567591|PMID:31769227|PMID:31780696|PMID:31822785|PMID:31857678|PMID:31866764|PMID:31942411|PMID:31970404|PMID:32169874|PMID:32191290|PMID:32424176|PMID:32522261|PMID:32546565|PMID:32567205|PMID:32792570|PMID:32826389|PMID:32885271|PMID:32923906|PMID:32973888|PMID:32984025|PMID:32992294|PMID:33001133|PMID:33057194|PMID:33193653|PMID:33194656|PMID:33558524|PMID:33821390|PMID:33872653|PMID:34026601|PMID:3432686|PMID:34326862|PMID:34347074|PMID:34549727|PMID:34749799|PMID:34897210|PMID:35108036|PMID:35261896|PMID:35264596|PMID:35534205|PMID:35534704|PMID:35624529|PMID:35957908|PMID:36315513|PMID:36427680|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:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348983 D RGD:8554872 20260616 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:19966286|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:22493747|PMID:22810696|PMID:22980975|PMID:23230001|PMID:23263490|PMID:23447401|PMID:24033266|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25058500|PMID:25124163|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25505230|PMID:25529843|PMID:25637381|PMID:25741868|PMID:25948378|PMID:26133394|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26763250|PMID:26845104|PMID:27153395|PMID:27244218|PMID:27379089|PMID:27683556|PMID:27701467|PMID:27720647|PMID:27993330|PMID:28195393|PMID:28202063|PMID:28218421|PMID:28427513|PMID:28492532|PMID:28724667|PMID:28857155|PMID:28873162|PMID:28878254|PMID:29056344|PMID:29120461|PMID:29212164|PMID:29320758|PMID:29572003|PMID:29625052|PMID:29641532|PMID:29987844|PMID:30049826|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30368636|PMID:30503519|PMID:30630526|PMID:30640733|PMID:30665374|PMID:30917185|PMID:31034466|PMID:31265121|PMID:31285513|PMID:31415061|PMID:31769227|PMID:31780696|PMID:31866764|PMID:31942411|PMID:31970404|PMID:32091409|PMID:32169874|PMID:32191290|PMID:32424176|PMID:32522261|PMID:32546565|PMID:32567205|PMID:32705701|PMID:32792570|PMID:32885271|PMID:32973888|PMID:32984025|PMID:33001133|PMID:33057194|PMID:33777394|PMID:33821390|PMID:33872653|PMID:3432686|PMID:34326862|PMID:34897210|PMID:35101336|PMID:35264596|PMID:35534205|PMID:35534704|PMID:36315513|PMID:37088804|PMID:37460928|PMID:37833059|PMID:37848928|PMID:38874686|PMID:39269552|PMID:39888082|PMID:9536098 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9007736 Vertigo ISO RGD:1348983 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Vertigo PMID:28492532 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9007936 Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature ISO RGD:1348983 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: FACIAL DYSMORPHISM, IMMUNODEFICIENCY, LIVEDO, AND SHORT STATURE | ClinVar Annotator: match by term: Facial dysmorphism, immunodeficiency, livedo, and short stature PMID:17576681|PMID:20091185|PMID:21129811|PMID:23230001|PMID:23263490|PMID:24033266|PMID:24525744|PMID:25124163|PMID:25637381|PMID:25741868|PMID:25948378|PMID:26251183|PMID:26467025|PMID:26763250|PMID:26845104|PMID:27153395|PMID:27379089|PMID:28195393|PMID:28202063|PMID:28427513|PMID:28492532|PMID:28873162|PMID:28878254|PMID:29056344|PMID:29120461|PMID:29212164|PMID:29641532|PMID:29987844|PMID:30049826|PMID:30267214|PMID:30503519|PMID:30917185|PMID:31285513|PMID:31769227|PMID:32091409|PMID:32546565|PMID:32792570|PMID:32973888|PMID:33872653|PMID:34326862|PMID:35534704|PMID:36315513|PMID:37088804|PMID:37460928|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 20260701 OMIM 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9008023 Memory Disorders ISO RGD:1348983 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Memory impairment PMID:25741868|PMID:28492532 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:9008952 Breast Cancer, Familial ISO RGD:1348983 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868|PMID:28492532 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9009054 Colorectal Cancer 10 ISO RGD:1348983 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 10 | ClinVar Annotator: match by term: Familial colorectal cancer type X PMID:23230001|PMID:24033266|PMID:25124163|PMID:25637381|PMID:25741868|PMID:25948378|PMID:26251183|PMID:26467025|PMID:26845104|PMID:28195393|PMID:28492532|PMID:28873162|PMID:29120461|PMID:29641532|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30503519|PMID:30917185|PMID:32546565|PMID:34326862|PMID:35534205 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9119 acute myeloid leukemia ISO RGD:1348983 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:25741868|PMID:26467025|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: GALNT12-related condition | 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 ISO RGD:1348983 D RGD:8554872 20250506 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: GALNT12-related condition | 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:29454559|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:31857678|PMID:31866764|PMID:31970404|PMID:32191290|PMID:32424176|PMID:32522261|PMID:32546565|PMID:32567205|PMID:32792570|PMID:32885271|PMID:32973888|PMID:32992294|PMID:33193653|PMID:33194656|PMID:33558524|PMID:33821390|PMID:34326862|PMID:34347074|PMID:34549727|PMID:34749799|PMID:35264596|PMID:35534205|PMID:35534704|PMID:35624529|PMID:35957908|PMID:36315513|PMID:36627197|PMID:36629684|PMID:36896836|PMID:37088804|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 20260519 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 | ClinVar Annotator: match by term: POLE-related polyposis and colorectal cancer syndrome PMID:14760276|PMID:16199547|PMID:16835919|PMID:17576681|PMID:19966286|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:22493747|PMID:23230001|PMID:23263490|PMID:23447401|PMID:24033266|PMID:24480973|PMID:24525744|PMID:25058500|PMID:25124163|PMID:25224212|PMID:25505230|PMID:25637381|PMID:25640679|PMID:25741868|PMID:25948378|PMID:26133394|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26763250|PMID:26845104|PMID:27153395|PMID:27379089|PMID:27720647|PMID:28195393|PMID:28202063|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28857155|PMID:28873162|PMID:28878254|PMID:29056344|PMID:29120461|PMID:29212164|PMID:29320758|PMID:29458332|PMID:29572003|PMID:29641532|PMID:29754823|PMID:29987844|PMID:30267214|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30665374|PMID:30917185|PMID:31265121|PMID:31285513|PMID:31769227|PMID:31866764|PMID:31970404|PMID:32091409|PMID:32191290|PMID:32522261|PMID:32546565|PMID:32567205|PMID:32792570|PMID:32885271|PMID:32973888|PMID:33001133|PMID:33821390|PMID:33872653|PMID:34326862|PMID:34347074|PMID:34549727|PMID:35101336|PMID:35264596|PMID:35534205|PMID:35534704|PMID:35599849|PMID:35860951|PMID:36315513|PMID:37088804|PMID:37460928|PMID:37848928|PMID:37990341|PMID:38874686|PMID:9536098 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:1348983 D RGD:8554872 20260616 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 | ClinVar Annotator: match by term: POLE-related polyposis and colorectal cancer syndrome PMID:14760276|PMID:16199547|PMID:16835919|PMID:17576681|PMID:19966286|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:22493747|PMID:23230001|PMID:23263490|PMID:23447401|PMID:24033266|PMID:24480973|PMID:24525744|PMID:25058500|PMID:25124163|PMID:25224212|PMID:25505230|PMID:25637381|PMID:25640679|PMID:25741868|PMID:25948378|PMID:26133394|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26763250|PMID:26845104|PMID:27153395|PMID:27379089|PMID:27720647|PMID:28195393|PMID:28202063|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28857155|PMID:28873162|PMID:28878254|PMID:29056344|PMID:29120461|PMID:29212164|PMID:29320758|PMID:29572003|PMID:29641532|PMID:29754823|PMID:29987844|PMID:30267214|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30665374|PMID:30917185|PMID:31265121|PMID:31285513|PMID:31769227|PMID:31866764|PMID:31970404|PMID:32091409|PMID:32191290|PMID:32522261|PMID:32546565|PMID:32567205|PMID:32792570|PMID:32885271|PMID:32973888|PMID:33001133|PMID:33821390|PMID:33872653|PMID:34326862|PMID:34549727|PMID:35101336|PMID:35264596|PMID:35534205|PMID:35534704|PMID:35599849|PMID:35860951|PMID:36315513|PMID:37088804|PMID:37460928|PMID:37848928|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 20260701 OMIM 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9834 hyperopia ISO RGD:1348983 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hypermetropia PMID:24033266|PMID:25637381|PMID:25741868|PMID:26251183|PMID:26467025|PMID:26845104|PMID:28195393|PMID:28492532|PMID:29120461|PMID:29641532|PMID:30267214|PMID:30917185|PMID:35534704 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9970 obesity ISO RGD:1348983 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Obesity PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30267214|PMID:35534704 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:0050939 uterine corpus endometrial carcinoma ISO RGD:1604658 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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:1324 lung cancer ISO RGD:1604658 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8709558 Cd86 CD86 molecule gene DOID:1909 melanoma ISO RGD:1604658 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 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:4074 pancreatic adenocarcinoma ISO RGD:1604658 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma 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:4362 cervical cancer ISO RGD:1604658 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8709558 Cd86 CD86 molecule gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1604658 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1604658 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 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:9008952 Breast Cancer, Familial ISO RGD:1604658 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8709558 Cd86 CD86 molecule gene DOID:9119 acute myeloid leukemia ISO RGD:1604658 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 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: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:0050939 uterine corpus endometrial carcinoma ISO RGD:736875 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma PMID:25741868 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:1324 lung cancer ISO RGD:736875 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8709568 C4bpb complement component 4 binding protein beta gene DOID:5041 esophageal cancer ISO RGD:736875 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus PMID:25741868 8709568 C4bpb complement component 4 binding protein beta gene DOID:684 hepatocellular carcinoma ISO RGD:736875 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8709588 Rabep1 rabaptin, RAB GTPase binding effector protein 1 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1346664 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8709588 Rabep1 rabaptin, RAB GTPase binding effector protein 1 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1346664 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8709588 Rabep1 rabaptin, RAB GTPase binding effector protein 1 gene DOID:0060058 lymphoma ISO RGD:1346664 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lymphoma 8709588 Rabep1 rabaptin, RAB GTPase binding effector protein 1 gene DOID:1909 melanoma ISO RGD:1346664 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8709588 Rabep1 rabaptin, RAB GTPase binding effector protein 1 gene DOID:234 colon adenocarcinoma ISO RGD:1346664 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8709588 Rabep1 rabaptin, RAB GTPase binding effector protein 1 gene DOID:3275 thymoma ISO RGD:1346664 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 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 8709588 Rabep1 rabaptin, RAB GTPase binding effector protein 1 gene DOID:4362 cervical cancer ISO RGD:1346664 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8709588 Rabep1 rabaptin, RAB GTPase binding effector protein 1 gene DOID:4947 cholangiocarcinoma ISO RGD:1346664 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 8709588 Rabep1 rabaptin, RAB GTPase binding effector protein 1 gene DOID:5041 esophageal cancer ISO RGD:1346664 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8709588 Rabep1 rabaptin, RAB GTPase binding effector protein 1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1346664 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8709588 Rabep1 rabaptin, RAB GTPase binding effector protein 1 gene DOID:6039 uveal melanoma ISO RGD:1346664 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uveal melanoma 8709588 Rabep1 rabaptin, RAB GTPase binding effector protein 1 gene DOID:6171 uterine carcinosarcoma ISO RGD:1346664 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8709588 Rabep1 rabaptin, RAB GTPase binding effector protein 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1346664 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8709588 Rabep1 rabaptin, RAB GTPase binding effector protein 1 gene DOID:9005024 Hereditary Adrenocortical Carcinoma ISO RGD:1346664 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary 8709588 Rabep1 rabaptin, RAB GTPase binding effector protein 1 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1346664 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial prostate cancer 8709588 Rabep1 rabaptin, RAB GTPase binding effector protein 1 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1346664 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8709588 Rabep1 rabaptin, RAB GTPase binding effector protein 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1346664 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8709588 Rabep1 rabaptin, RAB GTPase binding effector protein 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1346664 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8709626 Nup88 nucleoporin 88 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:733611 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8709626 Nup88 nucleoporin 88 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:733611 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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 20260602 ClinVar ClinVar Annotator: match by term: FETAL AKINESIA DEFORMATION SEQUENCE 4 | ClinVar Annotator: match by term: Fetal akinesia deformation sequence 4 | ClinVar Annotator: match by term: NUP88-related condition PMID:25741868 8709626 Nup88 nucleoporin 88 gene DOID:1909 melanoma ISO RGD:733611 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8709626 Nup88 nucleoporin 88 gene DOID:4362 cervical cancer ISO RGD:733611 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8709626 Nup88 nucleoporin 88 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:733611 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 8709626 Nup88 nucleoporin 88 gene DOID:5041 esophageal cancer ISO RGD:733611 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 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 8709626 Nup88 nucleoporin 88 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:733611 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 8709626 Nup88 nucleoporin 88 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:733611 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8709626 Nup88 nucleoporin 88 gene DOID:6171 uterine carcinosarcoma ISO RGD:733611 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8709626 Nup88 nucleoporin 88 gene DOID:684 hepatocellular carcinoma ISO RGD:733611 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8709626 Nup88 nucleoporin 88 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:733611 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8709626 Nup88 nucleoporin 88 gene DOID:9119 acute myeloid leukemia ISO RGD:733611 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8709647 Cdc16 cell division cycle 16 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1312892 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8709647 Cdc16 cell division cycle 16 gene DOID:10534 stomach cancer ISO RGD:1312892 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8709647 Cdc16 cell division cycle 16 gene DOID:1115 sarcoma ISO RGD:1312892 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8709647 Cdc16 cell division cycle 16 gene DOID:1324 lung cancer ISO RGD:1312892 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8709647 Cdc16 cell division cycle 16 gene DOID:3275 thymoma ISO RGD:1312892 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8709647 Cdc16 cell division cycle 16 gene DOID:4362 cervical cancer ISO RGD:1312892 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8709647 Cdc16 cell division cycle 16 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1312892 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 8709647 Cdc16 cell division cycle 16 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1312892 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8709647 Cdc16 cell division cycle 16 gene DOID:6171 uterine carcinosarcoma ISO RGD:1312892 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8709647 Cdc16 cell division cycle 16 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1312892 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Familial cancer of breast 8709647 Cdc16 cell division cycle 16 gene DOID:9256 colorectal cancer ISO RGD:1312892 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colorectal cancer 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:68450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:0060249 scoliosis ISO RGD:68450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Scoliosis PMID:23566544|PMID:25741868|PMID:26298607|PMID:28492532 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:0060260 ptosis ISO RGD:68450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ptosis PMID:14681881|PMID:25326637|PMID:25439726|PMID:25568292|PMID:25741868|PMID:28492532 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:0060930 developmental dysplasia of the hip ISO RGD:68450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Developmental dysplasia of the hip PMID:25741868|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 20260616 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S | 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: Charcot-Marie-Tooth disease, axonal, type 2S | ClinVar Annotator: match by term: IGHMBP2-related condition PMID:11528396|PMID:14506069|PMID:14681881|PMID:15108294|PMID:15503272|PMID:15797190|PMID:16199547|PMID:16765827|PMID:16964485|PMID:17431882|PMID:17576681|PMID:18802676|PMID:19158098|PMID:21353777|PMID:21360834|PMID:22157136|PMID:23566544|PMID:23929295|PMID:24033266|PMID:25326637|PMID:25439726|PMID:25473036|PMID:25568292|PMID:25741868|PMID:26257172|PMID:26298607|PMID:26392352|PMID:26467025|PMID:26633542|PMID:26922252|PMID:27450922|PMID:28065684|PMID:28397221|PMID:28492532|PMID:29653221|PMID:29858556|PMID:30409445|PMID:30598237|PMID:30665247|PMID:30665423|PMID:30755392|PMID:31020813|PMID:31069529|PMID:31178897|PMID:31211173|PMID:32154989|PMID:32190976|PMID:32376792|PMID:33369814|PMID:34190362|PMID:34232518|PMID:34255403|PMID:34602496|PMID:34668123|PMID:34986626|PMID:35086940|PMID:36077311|PMID:38046662|PMID:38672198|PMID:38772550|PMID:9536098 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:0110764 hereditary spastic paraplegia 11 ISO RGD:68450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 PMID:25741868|PMID:28492532|PMID:31020813|PMID:32190976 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 20260616 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 1 | ClinVar Annotator: match by term: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 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, DISTAL, AUTOSOMAL RECESSIVE, 1 PMID:11528396|PMID:14506069|PMID:14681881|PMID:15108294|PMID:15269181|PMID:15503272|PMID:15797190|PMID:16199547|PMID:16765827|PMID:16964485|PMID:17431882|PMID:17576681|PMID:18802676|PMID:19157874|PMID:19158098|PMID:21353777|PMID:21360834|PMID:22157136|PMID:22791546|PMID:23566544|PMID:23929295|PMID:24022109|PMID:24033266|PMID:25280635|PMID:25326637|PMID:25439726|PMID:25454169|PMID:25473036|PMID:25568292|PMID:25640679|PMID:25741868|PMID:26257172|PMID:26298607|PMID:26392352|PMID:26467025|PMID:26633542|PMID:26922252|PMID:27450922|PMID:28065684|PMID:28202949|PMID:28251916|PMID:28397221|PMID:28492532|PMID:28902413|PMID:29653221|PMID:29858556|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:33189025|PMID:33258288|PMID:33369814|PMID:34169998|PMID:34232518|PMID:34255403|PMID:34539730|PMID:34602496|PMID:34668123|PMID:34986626|PMID:35086940|PMID:35660062|PMID:36077311|PMID:38046662|PMID:38259611|PMID:38672198|PMID:38772550|PMID:38871447|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 20260519 ClinVar ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant PMID:11528396|PMID:14681881|PMID:15797190|PMID:16199547|PMID:17431882|PMID:22157136|PMID:23449687|PMID:23566544|PMID:23929295|PMID:24022109|PMID:24033266|PMID:24342282|PMID:24388491|PMID:25439726|PMID:25454169|PMID:25568292|PMID:25741868|PMID:26136520|PMID:26467025|PMID:27450922|PMID:28403181|PMID:28492532|PMID:30598237|PMID:31211173|PMID:36077311 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:0111209 autosomal dominant distal hereditary motor neuronopathy 4 ISO RGD:68450 D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 2C PMID:25741868|PMID:28492532 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:10024 migraine with aura ISO RGD:68450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Migraine with aura PMID:25741868|PMID:28492532|PMID:31020813|PMID:32190976 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:10534 stomach cancer ISO RGD:68450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:25741868|PMID:28492532 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 20260616 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:11528396|PMID:14506069|PMID:14681881|PMID:15108294|PMID:15797190|PMID:16964485|PMID:17431882|PMID:17576681|PMID:18802676|PMID:19158098|PMID:21353777|PMID:22157136|PMID:23566544|PMID:24033266|PMID:25439726|PMID:25473036|PMID:25568292|PMID:25741868|PMID:26392352|PMID:26467025|PMID:28492532|PMID:31069529|PMID:32376792|PMID:34255403|PMID:34490615|PMID:34668123|PMID:35086940|PMID:35628876|PMID:36077311|PMID:38046662|PMID:38672198|PMID:39815358|PMID:9536098 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:10907 microcephaly ISO RGD:68450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:23566544|PMID:25741868|PMID:26298607|PMID:28492532 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:11054 urinary bladder cancer ISO RGD:68450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:1115 sarcoma ISO RGD:68450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:11162 respiratory failure ISO RGD:68450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Respiratory insufficiency PMID:28492532 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:12377 spinal muscular atrophy ISO RGD:68450 D RGD:8554872 20260616 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:25439726|PMID:25473036|PMID:25568292|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26922252|PMID:28065684|PMID:28397221|PMID:28492532|PMID:30409445|PMID:31178897|PMID:31211173|PMID:32154989|PMID:32376792|PMID:34986626|PMID:35086940|PMID:36077311|PMID:38415210|PMID:39170411|PMID:39973457 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:1324 lung cancer ISO RGD:68450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:1389 polyneuropathy ISO RGD:68450 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Polyneuropathy PMID:14506069|PMID:14681881|PMID:16964485|PMID:17431882|PMID:18802676|PMID:21353777|PMID:22157136|PMID:23566544|PMID:25741868|PMID:26392352|PMID:26467025|PMID:28492532|PMID:35086940|PMID:36077311 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:1826 epilepsy ISO RGD:68450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532|PMID:31020813|PMID:32190976 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:1909 melanoma ISO RGD:68450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma PMID:25741868|PMID:28492532 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:1924 hypogonadism ISO RGD:68450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hypogonadism PMID:28492532 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:1969 cerebral palsy ISO RGD:68450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868|PMID:28492532 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:2030 anxiety disorder ISO RGD:68450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Anxiety PMID:28492532 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:255 hemangioma ISO RGD:68450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hemangioma PMID:26392352|PMID:27450922|PMID:28492532 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:2841 asthma ISO RGD:68450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Asthma PMID:28492532 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:480 movement disease ISO RGD:68450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Movement disorder PMID:25741868|PMID:28492532 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:4947 cholangiocarcinoma ISO RGD:68450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:5041 esophageal cancer ISO RGD:68450 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus PMID:25741868|PMID:28492532 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:68450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma PMID:25741868|PMID:28492532 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:6171 uterine carcinosarcoma ISO RGD:68450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma PMID:25741868|PMID:28492532 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:630 genetic disease ISO RGD:68450 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11528396|PMID:14506069|PMID:14681881|PMID:15108294|PMID:15503272|PMID:16964485|PMID:17431882|PMID:18802676|PMID:19158098|PMID:21353777|PMID:22157136|PMID:23566544|PMID:25439726|PMID:25568292|PMID:25741868|PMID:26257172|PMID:26392352|PMID:26467025|PMID:27450922|PMID:28492532|PMID:30409445|PMID:30665247|PMID:30665423|PMID:31178897|PMID:32376792|PMID:33369814|PMID:34232518|PMID:34602496|PMID:34986626|PMID:35086940|PMID:36077311 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:7319 axonal neuropathy ISO RGD:68450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Motor axonal neuropathy PMID:25741868|PMID:28492532|PMID:31020813|PMID:32190976 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:767 muscular atrophy ISO RGD:68450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Muscular atrophy PMID:28492532|PMID:30598237 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:870 neuropathy ISO RGD:68450 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:11528396|PMID:14681881|PMID:16765827|PMID:22157136|PMID:25439726|PMID:25568292|PMID:25741868|PMID:26392352|PMID:28492532|PMID:29858556|PMID:30598237 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:9000292 Respiratory Paralysis ISO RGD:68450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Diaphragmatic paralysis PMID:28492532|PMID:30598237 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:9001276 Failure to Thrive ISO RGD:68450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:14681881|PMID:25326637|PMID:25439726|PMID:25568292|PMID:25741868|PMID:28492532 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:9002775 Cognitive Dysfunction ISO RGD:68450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cognitive impairment PMID:28492532 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:9003507 Premature Birth ISO RGD:68450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Premature birth PMID:28492532 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:68450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:9005077 Joint Instability ISO RGD:68450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Joint hypermobility PMID:25741868|PMID:28492532|PMID:31020813|PMID:32190976 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:9005603 Muscle Hypotonia ISO RGD:68450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Muscular hypotonia PMID:14681881|PMID:15108294|PMID:23566544|PMID:25741868|PMID:26298607|PMID:28065684|PMID:28492532|PMID:30598237 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:9006534 Nervous System Malformations ISO RGD:68450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:28492532 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:68450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 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:9008023 Memory Disorders ISO RGD:68450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Memory impairment PMID:28492532 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:9008086 Developmental Disabilities ISO RGD:68450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:9008811 Tachypnea ISO RGD:68450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Tachypnea PMID:14681881|PMID:25326637|PMID:25439726|PMID:25568292|PMID:25741868|PMID:28492532 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:9119 acute myeloid leukemia ISO RGD:68450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:9277 primary cerebellar degeneration ISO RGD:68450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sensorimotor neuropathy PMID:23566544|PMID:25741868|PMID:26298607|PMID:28492532 8709690 Kdm5b lysine demethylase 5B gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1322449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8709690 Kdm5b lysine demethylase 5B gene DOID:0050581 brachydactyly ISO RGD:1322449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Brachydactyly PMID:25741868 8709690 Kdm5b lysine demethylase 5B gene DOID:0050753 cerebellar ataxia ISO RGD:1322449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia 8709690 Kdm5b lysine demethylase 5B gene DOID:0050848 obstructive sleep apnea ISO RGD:1322449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Obstructive sleep apnea syndrome 8709690 Kdm5b lysine demethylase 5B gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1322449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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 PMID:25741868 8709690 Kdm5b lysine demethylase 5B gene DOID:0060320 inguinal hernia ISO RGD:1322449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Inguinal hernia 8709690 Kdm5b lysine demethylase 5B gene DOID:0060321 umbilical hernia ISO RGD:1322449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Umbilical hernia PMID:25741868 8709690 Kdm5b lysine demethylase 5B gene DOID:0070445 early-onset dystonia and/or spastic paraplegia ISO RGD:1322449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Dystonia, early-onset, and/or spastic paraplegia 8709690 Kdm5b lysine demethylase 5B gene DOID:0080074 neural tube defect ISO RGD:1322449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Neural tube defect 8709690 Kdm5b lysine demethylase 5B gene DOID:0080173 bladder exstrophy-epispadias-cloacal exstrophy complex ISO RGD:1322449 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex PMID:25741868 8709690 Kdm5b lysine demethylase 5B gene DOID:0080833 laryngomalacia ISO RGD:1322449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Congenital laryngomalacia 8709690 Kdm5b lysine demethylase 5B gene DOID:0080918 polymicrogyria ISO RGD:1322449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Polymicrogyria 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 20260519 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 65 | ClinVar Annotator: match by term: KDM5B-related condition PMID:25741868|PMID:28492532|PMID:29276005|PMID:30217758|PMID:30409806|PMID:31133750|PMID:36368308 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:0090131 complex cortical dysplasia with other brain malformations ISO RGD:1322449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cortical dysplasia PMID:25741868 8709690 Kdm5b lysine demethylase 5B gene DOID:10003 sensorineural hearing loss ISO RGD:1322449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment 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:10534 stomach cancer ISO RGD:1322449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 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:1059 intellectual disability ISO RGD:1322449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8709690 Kdm5b lysine demethylase 5B gene DOID:10908 hydrocephalus ISO RGD:1322449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ventriculomegaly PMID:25741868 8709690 Kdm5b lysine demethylase 5B gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1322449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Attention deficit hyperactivity disorder 8709690 Kdm5b lysine demethylase 5B gene DOID:11054 urinary bladder cancer ISO RGD:1322449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8709690 Kdm5b lysine demethylase 5B gene DOID:1115 sarcoma ISO RGD:1322449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8709690 Kdm5b lysine demethylase 5B gene DOID:11714 gestational diabetes ISO RGD:1322449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gestational diabetes 8709690 Kdm5b lysine demethylase 5B gene DOID:12849 autistic disorder ISO RGD:1322449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior | ClinVar Annotator: match by term: Autistic disorder of childhood onset PMID:25741868|PMID:28492532 8709690 Kdm5b lysine demethylase 5B gene DOID:13209 right bundle branch block ISO RGD:1322449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Right bundle branch block 8709690 Kdm5b lysine demethylase 5B gene DOID:1324 lung cancer ISO RGD:1322449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8709690 Kdm5b lysine demethylase 5B gene DOID:13620 patent foramen ovale ISO RGD:1322449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Patent foramen ovale 8709690 Kdm5b lysine demethylase 5B gene DOID:13938 amenorrhea ISO RGD:1322449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Amenorrhea 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:1657 ventricular septal defect ISO RGD:1322449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ventricular septal defect 8709690 Kdm5b lysine demethylase 5B gene DOID:1826 epilepsy ISO RGD:1322449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 8709690 Kdm5b lysine demethylase 5B gene DOID:1882 atrial heart septal defect ISO RGD:1322449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Atrial septal defect 8709690 Kdm5b lysine demethylase 5B gene DOID:1969 cerebral palsy ISO RGD:1322449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cerebral palsy 8709690 Kdm5b lysine demethylase 5B gene DOID:234 colon adenocarcinoma ISO RGD:1322449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8709690 Kdm5b lysine demethylase 5B gene DOID:3070 high grade glioma ISO RGD:1322449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Glioma susceptibility 1 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:3275 thymoma ISO RGD:1322449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 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:4362 cervical cancer ISO RGD:1322449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8709690 Kdm5b lysine demethylase 5B gene DOID:4702 mongolian spot ISO RGD:1322449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Mongolian blue spot 8709690 Kdm5b lysine demethylase 5B gene DOID:480 movement disease ISO RGD:1322449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Movement disorder 8709690 Kdm5b lysine demethylase 5B gene DOID:5041 esophageal cancer ISO RGD:1322449 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8709690 Kdm5b lysine demethylase 5B gene DOID:540 strabismus ISO RGD:1322449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Strabismus 8709690 Kdm5b lysine demethylase 5B gene DOID:5557 testicular germ cell cancer ISO RGD:1322449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Germ cell tumor of testis 8709690 Kdm5b lysine demethylase 5B gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1322449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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:674 cleft palate ISO RGD:1322449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cleft palate 8709690 Kdm5b lysine demethylase 5B gene DOID:684 hepatocellular carcinoma ISO RGD:1322449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:25741868 8709690 Kdm5b lysine demethylase 5B gene DOID:8488 polyhydramnios ISO RGD:1322449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Polyhydramnios PMID:25741868 8709690 Kdm5b lysine demethylase 5B gene DOID:8534 gastroesophageal reflux disease ISO RGD:1322449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastroesophageal reflux 8709690 Kdm5b lysine demethylase 5B gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1322449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:28492532 8709690 Kdm5b lysine demethylase 5B gene DOID:9000495 Tremor ISO RGD:1322449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Tremor 8709690 Kdm5b lysine demethylase 5B gene DOID:9000727 Syncope ISO RGD:1322449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Syncope PMID:28492532 8709690 Kdm5b lysine demethylase 5B gene DOID:9000892 Fetal Distress ISO RGD:1322449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Fetal distress 8709690 Kdm5b lysine demethylase 5B gene DOID:9001733 Tinnitus ISO RGD:1322449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Tinnitus PMID:28492532 8709690 Kdm5b lysine demethylase 5B gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:1322449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Corpus callosum, agenesis of 8709690 Kdm5b lysine demethylase 5B gene DOID:9002134 Heart Murmurs ISO RGD:1322449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Heart murmur 8709690 Kdm5b lysine demethylase 5B gene DOID:9002775 Cognitive Dysfunction ISO RGD:1322449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cognitive impairment PMID:28492532 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:9003539 Hyperacusis ISO RGD:1322449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hyperacusis PMID:28492532 8709690 Kdm5b lysine demethylase 5B gene DOID:9003654 Testicular Germ Cell Tumor ISO RGD:1322449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Germ cell tumor of testis 8709690 Kdm5b lysine demethylase 5B gene DOID:9003816 Macrocephaly ISO RGD:1322449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Macrocephaly PMID:25741868 8709690 Kdm5b lysine demethylase 5B gene DOID:9004062 Hyperhidrosis ISO RGD:1322449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hyperhidrosis 8709690 Kdm5b lysine demethylase 5B gene DOID:9004083 Familial Pancreatic Carcinoma ISO RGD:1322449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial pancreatic carcinoma 8709690 Kdm5b lysine demethylase 5B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532|PMID:29276005|PMID:30217758|PMID:30409806|PMID:35468861|PMID:36350923|PMID:39202393 8709690 Kdm5b lysine demethylase 5B gene DOID:9004665 Pectus Carinatum ISO RGD:1322449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Pectus carinatum 8709690 Kdm5b lysine demethylase 5B gene DOID:9004865 Nuchal Cord ISO RGD:1322449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nuchal cord 8709690 Kdm5b lysine demethylase 5B gene DOID:9005077 Joint Instability ISO RGD:1322449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Joint hypermobility PMID:28492532 8709690 Kdm5b lysine demethylase 5B gene DOID:9005532 Muscle Weakness ISO RGD:1322449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Muscle weakness 8709690 Kdm5b lysine demethylase 5B gene DOID:9005603 Muscle Hypotonia ISO RGD:1322449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Muscular hypotonia PMID:25741868 8709690 Kdm5b lysine demethylase 5B gene DOID:9006617 Fatigue ISO RGD:1322449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Fatigue 8709690 Kdm5b lysine demethylase 5B gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1322449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8709690 Kdm5b lysine demethylase 5B gene DOID:9007462 Partial Agenesis of Corpus Callosum ISO RGD:1322449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Partial agenesis of the corpus callosum 8709690 Kdm5b lysine demethylase 5B gene DOID:9007573 Flatfoot ISO RGD:1322449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Pes planus 8709690 Kdm5b lysine demethylase 5B gene DOID:9007661 Dwarfism ISO RGD:1322449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868|PMID:28554332|PMID:29276005|PMID:30217758|PMID:30409806|PMID:39202393 8709690 Kdm5b lysine demethylase 5B gene DOID:9007736 Vertigo ISO RGD:1322449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Vertigo PMID:28492532 8709690 Kdm5b lysine demethylase 5B gene DOID:9008086 Developmental Disabilities ISO RGD:1322449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 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:9008952 Breast Cancer, Familial ISO RGD:1322449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868 8709690 Kdm5b lysine demethylase 5B gene DOID:9009021 Plagiocephaly ISO RGD:1322449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Plagiocephaly PMID:25741868 8709690 Kdm5b lysine demethylase 5B gene DOID:9009131 Ventriculomegaly ISO RGD:1322449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ventriculomegaly PMID:25741868 8709690 Kdm5b lysine demethylase 5B gene DOID:9650 pathologic nystagmus ISO RGD:1322449 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nystagmus 8709724 Gpr12 G protein-coupled receptor 12 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:68465 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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:0050387 nonpapillary renal cell carcinoma ISO RGD:69659 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 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:0051061 stroke ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20083630 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:0051061 stroke treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:10066862|REF_RGD_ID:11522710 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: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:10230 aortic atherosclerosis treatment ISO RGD:2857 D RGD:9068941 20260226 RGD PMID:32397494|REF_RGD_ID:632527149 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:10534 stomach cancer ISO RGD:69659 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 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 20250722 ClinVar ClinVar Annotator: match by term: ICAM1-related condition | ClinVar Annotator: match by term: Malaria, susceptibility to PMID:25741868|PMID:28492532 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: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 ISO RGD:69659 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 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:3275 thymoma ISO RGD:69659 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 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:5746 ovarian serous cystadenocarcinoma ISO RGD:69659 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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 20260219 RGD PMID:20569121|PMID:31693211|REF_RGD_ID:632522751|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: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:9008952 Breast Cancer, Familial ISO RGD:69659 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 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:0050387 nonpapillary renal cell carcinoma ISO RGD:1343010 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8709744 Nme5 NME/NM23 family member 5 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1343010 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8709744 Nme5 NME/NM23 family member 5 gene DOID:0060058 lymphoma ISO RGD:1343010 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lymphoma 8709744 Nme5 NME/NM23 family member 5 gene DOID:0070761 Primary Ciliary Dyskinesia 48 ISO RGD:1343010 D RGD:7240710 20220921 OMIM 8709744 Nme5 NME/NM23 family member 5 gene DOID:0070761 Primary Ciliary Dyskinesia 48 ISO RGD:1343010 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 48, WITHOUT SITUS INVERSUS | ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 48, without situs inversus PMID:25741868 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:1115 sarcoma ISO RGD:1343010 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8709744 Nme5 NME/NM23 family member 5 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1343010 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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 8709757 Arfgef1 ARF guanine nucleotide exchange factor 1 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1348298 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8709757 Arfgef1 ARF guanine nucleotide exchange factor 1 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1348298 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8709757 Arfgef1 ARF guanine nucleotide exchange factor 1 gene DOID:0060135 apraxia ISO RGD:1348298 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Apraxia | ClinVar Annotator: match by term: apraxia PMID:25741868|PMID:34113008 8709757 Arfgef1 ARF guanine nucleotide exchange factor 1 gene DOID:10534 stomach cancer ISO RGD:1348298 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 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 disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:34113008 8709757 Arfgef1 ARF guanine nucleotide exchange factor 1 gene DOID:10907 microcephaly ISO RGD:1348298 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 8709757 Arfgef1 ARF guanine nucleotide exchange factor 1 gene DOID:1115 sarcoma ISO RGD:1348298 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8709757 Arfgef1 ARF guanine nucleotide exchange factor 1 gene DOID:11782 astigmatism ISO RGD:1348298 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Astigmatism PMID:25741868|PMID:34113008 8709757 Arfgef1 ARF guanine nucleotide exchange factor 1 gene DOID:12995 conduct disorder ISO RGD:1348298 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Behavior disorder 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: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: epilepsy PMID:25741868|PMID:34113008 8709757 Arfgef1 ARF guanine nucleotide exchange factor 1 gene DOID:1909 melanoma ISO RGD:1348298 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 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:3907 lung squamous cell carcinoma ISO RGD:1348298 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma 8709757 Arfgef1 ARF guanine nucleotide exchange factor 1 gene DOID:4362 cervical cancer ISO RGD:1348298 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8709757 Arfgef1 ARF guanine nucleotide exchange factor 1 gene DOID:5041 esophageal cancer ISO RGD:1348298 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8709757 Arfgef1 ARF guanine nucleotide exchange factor 1 gene DOID:540 strabismus ISO RGD:1348298 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Strabismus PMID:25741868|PMID:34113008 8709757 Arfgef1 ARF guanine nucleotide exchange factor 1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1348298 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 8709757 Arfgef1 ARF guanine nucleotide exchange factor 1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1348298 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8709757 Arfgef1 ARF guanine nucleotide exchange factor 1 gene DOID:630 genetic disease ISO RGD:1348298 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:34113008 8709757 Arfgef1 ARF guanine nucleotide exchange factor 1 gene DOID:6354 chronic lymphocytic leukemia/small lymphocytic lymphoma ISO RGD:1348298 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma 8709757 Arfgef1 ARF guanine nucleotide exchange factor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1348298 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8709757 Arfgef1 ARF guanine nucleotide exchange factor 1 gene DOID:8488 polyhydramnios ISO RGD:1348298 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Polyhydramnios PMID:25741868 8709757 Arfgef1 ARF guanine nucleotide exchange factor 1 gene DOID:9000495 Tremor ISO RGD:1348298 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Tremor PMID:25741868|PMID:34113008 8709757 Arfgef1 ARF guanine nucleotide exchange factor 1 gene DOID:9000526 DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES ISO RGD:1348298 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Developmental delay, impaired speech, and behavioral abnormalities PMID:25741868 8709757 Arfgef1 ARF guanine nucleotide exchange factor 1 gene DOID:9001031 Retrognathia ISO RGD:1348298 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Retrognathia PMID:25741868 8709757 Arfgef1 ARF guanine nucleotide exchange factor 1 gene DOID:9001722 Dysarthria ISO RGD:1348298 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Dysarthria PMID:25741868|PMID:34113008 8709757 Arfgef1 ARF guanine nucleotide exchange factor 1 gene DOID:9003133 Hypertelorism ISO RGD:1348298 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hypertelorism 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:9004538 Hearing Loss ISO RGD:1348298 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:25741868|PMID:34113008 8709757 Arfgef1 ARF guanine nucleotide exchange factor 1 gene DOID:9004866 Ataxia ISO RGD:1348298 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ataxia PMID:25741868|PMID:34113008 8709757 Arfgef1 ARF guanine nucleotide exchange factor 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:1348298 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia PMID:25741868|PMID:34113008 8709757 Arfgef1 ARF guanine nucleotide exchange factor 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:1348298 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia PMID:25741868 8709757 Arfgef1 ARF guanine nucleotide exchange factor 1 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1348298 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8709757 Arfgef1 ARF guanine nucleotide exchange factor 1 gene DOID:9007661 Dwarfism ISO RGD:1348298 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 8709757 Arfgef1 ARF guanine nucleotide exchange factor 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1348298 D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Global developmental delay | ClinVar Annotator: match by term: global developmental delay PMID:25741868|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 20260602 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 | ClinVar Annotator: match by term: developmental delay, impaired speech, and behavioral abnormalities, with or without seizures PMID:17640864|PMID:25741868|PMID:34113008 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 8709757 Arfgef1 ARF guanine nucleotide exchange factor 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1348298 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8709757 Arfgef1 ARF guanine nucleotide exchange factor 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1348298 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8709757 Arfgef1 ARF guanine nucleotide exchange factor 1 gene DOID:9834 hyperopia ISO RGD:1348298 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hypermetropia PMID:25741868|PMID:34113008 8709808 Usp19 ubiquitin specific peptidase 19 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1344113 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8709808 Usp19 ubiquitin specific peptidase 19 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1344113 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8709808 Usp19 ubiquitin specific peptidase 19 gene DOID:10534 stomach cancer ISO RGD:1344113 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 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:1909 melanoma ISO RGD:1344113 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8709808 Usp19 ubiquitin specific peptidase 19 gene DOID:2843 long QT syndrome ISO RGD:1344113 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Long QT syndrome 8709808 Usp19 ubiquitin specific peptidase 19 gene DOID:3070 high grade glioma ISO RGD:1344113 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Glioma susceptibility 1 8709808 Usp19 ubiquitin specific peptidase 19 gene DOID:3275 thymoma ISO RGD:1344113 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8709808 Usp19 ubiquitin specific peptidase 19 gene DOID:4362 cervical cancer ISO RGD:1344113 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8709808 Usp19 ubiquitin specific peptidase 19 gene DOID:5041 esophageal cancer ISO RGD:1344113 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8709808 Usp19 ubiquitin specific peptidase 19 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1344113 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 8709808 Usp19 ubiquitin specific peptidase 19 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1344113 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8709808 Usp19 ubiquitin specific peptidase 19 gene DOID:6354 chronic lymphocytic leukemia/small lymphocytic lymphoma ISO RGD:1344113 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma 8709808 Usp19 ubiquitin specific peptidase 19 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1344113 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8709808 Usp19 ubiquitin specific peptidase 19 gene DOID:9119 acute myeloid leukemia ISO RGD:1344113 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8709846 Nudt16 nudix hydrolase 16 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1347227 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 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:3275 thymoma ISO RGD:1347227 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8709846 Nudt16 nudix hydrolase 16 gene DOID:684 hepatocellular carcinoma ISO RGD:1347227 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 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:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1347227 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8709846 Nudt16 nudix hydrolase 16 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1347227 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8709854 Ptk6 protein tyrosine kinase 6 gene DOID:0061216 pheochromocytoma/paraganglioma syndrome 1 ISO RGD:1319246 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Pheochromocytoma/paraganglioma syndrome 1 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:1115 sarcoma ISO RGD:1319246 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 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:234 colon adenocarcinoma ISO RGD:1319246 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8709854 Ptk6 protein tyrosine kinase 6 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1319246 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 8709854 Ptk6 protein tyrosine kinase 6 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1319246 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8709854 Ptk6 protein tyrosine kinase 6 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1319246 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 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: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:0050387 nonpapillary renal cell carcinoma ISO RGD:1605677 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8709893 Fxyd5 FXYD domain containing ion transport regulator 5 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1605677 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8709893 Fxyd5 FXYD domain containing ion transport regulator 5 gene DOID:3275 thymoma ISO RGD:1605677 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8709893 Fxyd5 FXYD domain containing ion transport regulator 5 gene DOID:4362 cervical cancer ISO RGD:1605677 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8709893 Fxyd5 FXYD domain containing ion transport regulator 5 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1605677 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 8709893 Fxyd5 FXYD domain containing ion transport regulator 5 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1605677 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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 8709893 Fxyd5 FXYD domain containing ion transport regulator 5 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1605677 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8709907 Ccdc50 coiled-coil domain containing 50 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1606954 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8709907 Ccdc50 coiled-coil domain containing 50 gene DOID:0050563 nonsyndromic deafness ISO RGD:1606954 D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Non-syndromic genetic deafness PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 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:0060058 lymphoma ISO RGD:1606954 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lymphoma 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 20260519 ClinVar ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 44 | ClinVar Annotator: match by term: CCDC50-related condition PMID:12483295|PMID:17503326|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386 8709907 Ccdc50 coiled-coil domain containing 50 gene DOID:10534 stomach cancer ISO RGD:1606954 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8709907 Ccdc50 coiled-coil domain containing 50 gene DOID:11054 urinary bladder cancer ISO RGD:1606954 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8709907 Ccdc50 coiled-coil domain containing 50 gene DOID:1115 sarcoma ISO RGD:1606954 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8709907 Ccdc50 coiled-coil domain containing 50 gene DOID:2394 ovarian cancer ISO RGD:1606954 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian cancer 8709907 Ccdc50 coiled-coil domain containing 50 gene DOID:3275 thymoma ISO RGD:1606954 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma PMID:25741868|PMID:28492532 8709907 Ccdc50 coiled-coil domain containing 50 gene DOID:4362 cervical cancer ISO RGD:1606954 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8709907 Ccdc50 coiled-coil domain containing 50 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1606954 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney PMID:25741868|PMID:28492532 8709907 Ccdc50 coiled-coil domain containing 50 gene DOID:4947 cholangiocarcinoma ISO RGD:1606954 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 8709907 Ccdc50 coiled-coil domain containing 50 gene DOID:5041 esophageal cancer ISO RGD:1606954 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8709907 Ccdc50 coiled-coil domain containing 50 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1606954 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 8709907 Ccdc50 coiled-coil domain containing 50 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1606954 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma PMID:25741868|PMID:28492532 8709907 Ccdc50 coiled-coil domain containing 50 gene DOID:684 hepatocellular carcinoma ISO RGD:1606954 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:24033266|PMID:25741868|PMID:28492532 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 8709907 Ccdc50 coiled-coil domain containing 50 gene DOID:9004083 Familial Pancreatic Carcinoma ISO RGD:1606954 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial pancreatic carcinoma 8709907 Ccdc50 coiled-coil domain containing 50 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1606954 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8709936 Ube2d2 ubiquitin conjugating enzyme E2 D2 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:69475 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8709936 Ube2d2 ubiquitin conjugating enzyme E2 D2 gene DOID:10534 stomach cancer ISO RGD:69475 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8709936 Ube2d2 ubiquitin conjugating enzyme E2 D2 gene DOID:11054 urinary bladder cancer ISO RGD:69475 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8709936 Ube2d2 ubiquitin conjugating enzyme E2 D2 gene DOID:3070 high grade glioma ISO RGD:69475 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Glioma susceptibility 1 8709936 Ube2d2 ubiquitin conjugating enzyme E2 D2 gene DOID:4362 cervical cancer ISO RGD:69475 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8709936 Ube2d2 ubiquitin conjugating enzyme E2 D2 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:69475 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 8709936 Ube2d2 ubiquitin conjugating enzyme E2 D2 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:69475 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8709936 Ube2d2 ubiquitin conjugating enzyme E2 D2 gene DOID:684 hepatocellular carcinoma ISO RGD:69475 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8709936 Ube2d2 ubiquitin conjugating enzyme E2 D2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:13487787 D RGD:9068941 20250724 ClinVar ClinVar Annotator: match by term: Hereditary neoplastic syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8709936 Ube2d2 ubiquitin conjugating enzyme E2 D2 gene DOID:9008952 Breast Cancer, Familial ISO RGD:69475 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast 8709971 Itm2b integral membrane protein 2B gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1353059 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8709971 Itm2b integral membrane protein 2B gene DOID:0050951 hereditary ataxia ISO RGD:1353059 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hereditary ataxia 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 20260602 ClinVar ClinVar Annotator: match by term: DEMENTIA, FAMILIAL BRITISH 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 20260602 ClinVar ClinVar Annotator: match by term: DEMENTIA, FAMILIAL DANISH 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:3907 lung squamous cell carcinoma ISO RGD:1353059 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma 8709971 Itm2b integral membrane protein 2B gene DOID:4362 cervical cancer ISO RGD:1353059 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 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:5746 ovarian serous cystadenocarcinoma ISO RGD:1353059 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8709971 Itm2b integral membrane protein 2B gene DOID:630 genetic disease ISO RGD:1353059 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8709971 Itm2b integral membrane protein 2B gene DOID:684 hepatocellular carcinoma ISO RGD:1353059 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 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: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:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1353059 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8709971 Itm2b integral membrane protein 2B gene DOID:9008952 Breast Cancer, Familial ISO RGD:1353059 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8709971 Itm2b integral membrane protein 2B gene DOID:9246 cerebral amyloid angiopathy ISO RGD:1557698 D RGD:9068941 20220825 MouseDO 8709980 Tmem269 transmembrane protein 269 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:11563379 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8709980 Tmem269 transmembrane protein 269 gene DOID:4362 cervical cancer ISO RGD:11563379 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8709980 Tmem269 transmembrane protein 269 gene DOID:5041 esophageal cancer ISO RGD:11563379 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8709980 Tmem269 transmembrane protein 269 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:11563379 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8709980 Tmem269 transmembrane protein 269 gene DOID:6354 chronic lymphocytic leukemia/small lymphocytic lymphoma ISO RGD:11563379 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma 8710031 Mob3c MOB kinase activator 3C gene DOID:10534 stomach cancer ISO RGD:1317238 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8710031 Mob3c MOB kinase activator 3C gene DOID:1909 melanoma ISO RGD:1317238 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8710039 Smyd5 SMYD family member 5 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1319335 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8710039 Smyd5 SMYD family member 5 gene DOID:0060058 lymphoma ISO RGD:1319335 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lymphoma 8710039 Smyd5 SMYD family member 5 gene DOID:11054 urinary bladder cancer ISO RGD:1319335 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8710039 Smyd5 SMYD family member 5 gene DOID:1115 sarcoma ISO RGD:1319335 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8710039 Smyd5 SMYD family member 5 gene DOID:1909 melanoma ISO RGD:1319335 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8710039 Smyd5 SMYD family member 5 gene DOID:234 colon adenocarcinoma ISO RGD:1319335 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8710039 Smyd5 SMYD family member 5 gene DOID:4362 cervical cancer ISO RGD:1319335 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8710039 Smyd5 SMYD family member 5 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1319335 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8710039 Smyd5 SMYD family member 5 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1319335 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8710039 Smyd5 SMYD family member 5 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1319335 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8710039 Smyd5 SMYD family member 5 gene DOID:9119 acute myeloid leukemia ISO RGD:1319335 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 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:3275 thymoma ISO RGD:730952 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 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:4362 cervical cancer ISO RGD:730952 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 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:5041 esophageal cancer ISO RGD:730952 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8710064 Arc activity regulated cytoskeleton associated protein gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:730952 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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: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:0050387 nonpapillary renal cell carcinoma ISO RGD:735260 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 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:1115 sarcoma ISO RGD:735260 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 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:3070 high grade glioma ISO RGD:735260 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Glioma susceptibility 1 8710071 Ces3 carboxylesterase 3 gene DOID:4362 cervical cancer ISO RGD:735260 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8710071 Ces3 carboxylesterase 3 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:735260 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:735260 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8710071 Ces3 carboxylesterase 3 gene DOID:9007102 Myocardial Ischemia ISO RGD:735260 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8710090 Znf236 zinc finger protein 236 gene DOID:0050753 cerebellar ataxia ISO RGD:1320136 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868 8710090 Znf236 zinc finger protein 236 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1320136 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8710090 Znf236 zinc finger protein 236 gene DOID:10534 stomach cancer ISO RGD:1320136 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8710090 Znf236 zinc finger protein 236 gene DOID:11054 urinary bladder cancer ISO RGD:1320136 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8710090 Znf236 zinc finger protein 236 gene DOID:1115 sarcoma ISO RGD:1320136 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8710090 Znf236 zinc finger protein 236 gene DOID:1324 lung cancer ISO RGD:1320136 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8710090 Znf236 zinc finger protein 236 gene DOID:1432 blindness ISO RGD:1320136 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Blindness PMID:25741868 8710090 Znf236 zinc finger protein 236 gene DOID:1909 melanoma ISO RGD:1320136 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8710090 Znf236 zinc finger protein 236 gene DOID:234 colon adenocarcinoma ISO RGD:1320136 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8710090 Znf236 zinc finger protein 236 gene DOID:3070 high grade glioma ISO RGD:1320136 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Glioma susceptibility 1 8710090 Znf236 zinc finger protein 236 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1320136 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma 8710090 Znf236 zinc finger protein 236 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1320136 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 8710090 Znf236 zinc finger protein 236 gene DOID:5041 esophageal cancer ISO RGD:1320136 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8710090 Znf236 zinc finger protein 236 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1320136 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 8710090 Znf236 zinc finger protein 236 gene DOID:5723 optic atrophy ISO RGD:1320136 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:25741868 8710090 Znf236 zinc finger protein 236 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1320136 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8710090 Znf236 zinc finger protein 236 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320136 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8710090 Znf236 zinc finger protein 236 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1320136 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8710090 Znf236 zinc finger protein 236 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1320136 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8710090 Znf236 zinc finger protein 236 gene DOID:9256 colorectal cancer ISO RGD:1320136 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colorectal cancer 8710139 Jrk Jrk helix-turn-helix protein gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1314867 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8710139 Jrk Jrk helix-turn-helix protein gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1314867 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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:234 colon adenocarcinoma ISO RGD:1314867 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8710139 Jrk Jrk helix-turn-helix protein gene DOID:2394 ovarian cancer ISO RGD:1314867 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian cancer 8710139 Jrk Jrk helix-turn-helix protein gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1314867 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 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:4947 cholangiocarcinoma ISO RGD:1314867 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 8710139 Jrk Jrk helix-turn-helix protein gene DOID:5041 esophageal cancer ISO RGD:1314867 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8710139 Jrk Jrk helix-turn-helix protein gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1314867 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8710139 Jrk Jrk helix-turn-helix protein gene DOID:9004083 Familial Pancreatic Carcinoma ISO RGD:1314867 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial pancreatic carcinoma 8710139 Jrk Jrk helix-turn-helix protein gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1314867 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8710139 Jrk Jrk helix-turn-helix protein gene DOID:9008952 Breast Cancer, Familial ISO RGD:1314867 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8710157 Crk CRK proto-oncogene, adaptor protein gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:736380 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8710157 Crk CRK proto-oncogene, adaptor protein gene DOID:3275 thymoma ISO RGD:736380 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8710157 Crk CRK proto-oncogene, adaptor protein gene DOID:4074 pancreatic adenocarcinoma ISO RGD:736380 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma 8710157 Crk CRK proto-oncogene, adaptor protein gene DOID:4362 cervical cancer ISO RGD:736380 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8710157 Crk CRK proto-oncogene, adaptor protein gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:736380 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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: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:5746 ovarian serous cystadenocarcinoma ISO RGD:732542 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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:0050387 nonpapillary renal cell carcinoma ISO RGD:1604601 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8710213 Pcyox1l prenylcysteine oxidase 1 like gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1604601 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8710213 Pcyox1l prenylcysteine oxidase 1 like gene DOID:0060058 lymphoma ISO RGD:1604601 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lymphoma 8710213 Pcyox1l prenylcysteine oxidase 1 like gene DOID:1115 sarcoma ISO RGD:1604601 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8710213 Pcyox1l prenylcysteine oxidase 1 like gene DOID:1909 melanoma ISO RGD:1604601 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8710213 Pcyox1l prenylcysteine oxidase 1 like gene DOID:3275 thymoma ISO RGD:1604601 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8710213 Pcyox1l prenylcysteine oxidase 1 like gene DOID:4362 cervical cancer ISO RGD:1604601 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8710213 Pcyox1l prenylcysteine oxidase 1 like gene DOID:9008952 Breast Cancer, Familial ISO RGD:1604601 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 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: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 20250708 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: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:10584 retinitis pigmentosa ISO RGD:730948 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 8710237 Twf2 twinfilin actin binding protein 2 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1312984 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8710237 Twf2 twinfilin actin binding protein 2 gene DOID:0060058 lymphoma ISO RGD:1312984 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lymphoma 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 8710237 Twf2 twinfilin actin binding protein 2 gene DOID:234 colon adenocarcinoma ISO RGD:1312984 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8710237 Twf2 twinfilin actin binding protein 2 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1312984 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8710237 Twf2 twinfilin actin binding protein 2 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1312984 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8710237 Twf2 twinfilin actin binding protein 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1312984 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8710259 Prkra protein activator of interferon induced protein kinase EIF2AK2 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1315476 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma PMID:25741868|PMID:28492532 8710259 Prkra protein activator of interferon induced protein kinase EIF2AK2 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1315476 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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 20260602 ClinVar ClinVar Annotator: match by term: DYSTONIA 16 | ClinVar Annotator: match by term: Dystonia 16 PMID:24033266|PMID:25737287|PMID:25741868|PMID:28492532 8710259 Prkra protein activator of interferon induced protein kinase EIF2AK2 gene DOID:10534 stomach cancer ISO RGD:1315476 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 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:11054 urinary bladder cancer ISO RGD:1315476 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8710259 Prkra protein activator of interferon induced protein kinase EIF2AK2 gene DOID:1115 sarcoma ISO RGD:1315476 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma PMID:25741868|PMID:28492532 8710259 Prkra protein activator of interferon induced protein kinase EIF2AK2 gene DOID:1324 lung cancer ISO RGD:1315476 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8710259 Prkra protein activator of interferon induced protein kinase EIF2AK2 gene DOID:4362 cervical cancer ISO RGD:1315476 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer PMID:25741868|PMID:28492532 8710259 Prkra protein activator of interferon induced protein kinase EIF2AK2 gene DOID:5041 esophageal cancer ISO RGD:1315476 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus PMID:25741868|PMID:28492532 8710259 Prkra protein activator of interferon induced protein kinase EIF2AK2 gene DOID:543 dystonia ISO RGD:1315476 D RGD:9068941 20260604 CTD CTD Direct Evidence: marker/mechanism PMID:18243799 8710259 Prkra protein activator of interferon induced protein kinase EIF2AK2 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1315476 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma PMID:25741868|PMID:28492532 8710259 Prkra protein activator of interferon induced protein kinase EIF2AK2 gene DOID:6039 uveal melanoma ISO RGD:1315476 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uveal melanoma 8710259 Prkra protein activator of interferon induced protein kinase EIF2AK2 gene DOID:630 genetic disease ISO RGD:1315476 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 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: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:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1315476 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 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 8710259 Prkra protein activator of interferon induced protein kinase EIF2AK2 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1315476 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8710259 Prkra protein activator of interferon induced protein kinase EIF2AK2 gene DOID:9256 colorectal cancer ISO RGD:1315476 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:25741868|PMID:28492532 8710272 Ifrd2 interferon related developmental regulator 2 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1320999 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8710272 Ifrd2 interferon related developmental regulator 2 gene DOID:11054 urinary bladder cancer ISO RGD:1320999 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8710272 Ifrd2 interferon related developmental regulator 2 gene DOID:1115 sarcoma ISO RGD:1320999 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8710272 Ifrd2 interferon related developmental regulator 2 gene DOID:1909 melanoma ISO RGD:1320999 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8710272 Ifrd2 interferon related developmental regulator 2 gene DOID:234 colon adenocarcinoma ISO RGD:1320999 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8710272 Ifrd2 interferon related developmental regulator 2 gene DOID:3070 high grade glioma ISO RGD:1320999 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Glioma susceptibility 1 8710272 Ifrd2 interferon related developmental regulator 2 gene DOID:4362 cervical cancer ISO RGD:1320999 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8710272 Ifrd2 interferon related developmental regulator 2 gene DOID:5041 esophageal cancer ISO RGD:1320999 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8710272 Ifrd2 interferon related developmental regulator 2 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1320999 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8710272 Ifrd2 interferon related developmental regulator 2 gene DOID:9003566 Mesothelioma ISO RGD:1320999 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Mesothelioma 8710272 Ifrd2 interferon related developmental regulator 2 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1320999 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8710293 Creg2 cellular repressor of E1A stimulated genes 2 gene DOID:11054 urinary bladder cancer ISO RGD:1350803 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8710293 Creg2 cellular repressor of E1A stimulated genes 2 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1350803 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8710300 Vti1a vesicle transport through interaction with t-SNAREs 1A gene DOID:11054 urinary bladder cancer ISO RGD:736863 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8710300 Vti1a vesicle transport through interaction with t-SNAREs 1A gene DOID:1115 sarcoma ISO RGD:736863 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8710300 Vti1a vesicle transport through interaction with t-SNAREs 1A gene DOID:1612 breast cancer ISO RGD:736863 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: breast cancer PMID:25741868 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:4362 cervical cancer ISO RGD:736863 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8710300 Vti1a vesicle transport through interaction with t-SNAREs 1A gene DOID:4467 clear cell renal cell carcinoma ISO RGD:736863 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 8710300 Vti1a vesicle transport through interaction with t-SNAREs 1A gene DOID:5041 esophageal cancer ISO RGD:736863 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8710300 Vti1a vesicle transport through interaction with t-SNAREs 1A gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:736863 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8710300 Vti1a vesicle transport through interaction with t-SNAREs 1A gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:736863 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 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 8710300 Vti1a vesicle transport through interaction with t-SNAREs 1A gene DOID:9119 acute myeloid leukemia ISO RGD:736863 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8710333 Klhl38 kelch like family member 38 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:2300033 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8710333 Klhl38 kelch like family member 38 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:2300033 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8710333 Klhl38 kelch like family member 38 gene DOID:9008952 Breast Cancer, Familial ISO RGD:2300033 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8710348 Plce1 phospholipase C epsilon 1 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1606000 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8710348 Plce1 phospholipase C epsilon 1 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1606000 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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 20260519 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: Nephrotic syndrome, type 3 | ClinVar Annotator: match by term: PLCE1-related condition PMID:16199547|PMID:17086182|PMID:18065803|PMID:18709391|PMID:18975016|PMID:20507940|PMID:20591883|PMID:22865593|PMID:24500309|PMID:24902943|PMID:25741868|PMID:26467025|PMID:27766458|PMID:28492532|PMID:31308072|PMID:31319225|PMID:35497790|PMID:36413997|PMID:36743378 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 20260519 ClinVar ClinVar Annotator: match by term: Focal sclerosis with hyalinosis PMID:18975016|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31308072|PMID:36743378 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:10534 stomach cancer ISO RGD:1606000 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8710348 Plce1 phospholipase C epsilon 1 gene DOID:11054 urinary bladder cancer ISO RGD:1606000 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8710348 Plce1 phospholipase C epsilon 1 gene DOID:1115 sarcoma ISO RGD:1606000 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8710348 Plce1 phospholipase C epsilon 1 gene DOID:1184 nephrotic syndrome ISO RGD:1606000 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:25741868|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 20260519 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal PMID:18975016|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31308072|PMID:36743378 8710348 Plce1 phospholipase C epsilon 1 gene DOID:1909 melanoma ISO RGD:1606000 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8710348 Plce1 phospholipase C epsilon 1 gene DOID:234 colon adenocarcinoma ISO RGD:1606000 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 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:4362 cervical cancer ISO RGD:1606000 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8710348 Plce1 phospholipase C epsilon 1 gene DOID:557 kidney disease ISO RGD:1606000 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: renal disease PMID:20591883|PMID:22865593|PMID:25741868|PMID:26467025|PMID:28492532 8710348 Plce1 phospholipase C epsilon 1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1606000 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8710348 Plce1 phospholipase C epsilon 1 gene DOID:630 genetic disease ISO RGD:1606000 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|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:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1606000 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 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 8710348 Plce1 phospholipase C epsilon 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1606000 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8710397 Chrdl2 chordin like 2 gene DOID:1115 sarcoma ISO RGD:1314650 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8710397 Chrdl2 chordin like 2 gene DOID:4362 cervical cancer ISO RGD:1314650 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8710397 Chrdl2 chordin like 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1314650 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8710397 Chrdl2 chordin like 2 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1314650 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8710397 Chrdl2 chordin like 2 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1314650 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8710415 Ica1l islet cell autoantigen 1 like gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1346474 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8710415 Ica1l islet cell autoantigen 1 like gene DOID:1115 sarcoma ISO RGD:1346474 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8710415 Ica1l islet cell autoantigen 1 like gene DOID:234 colon adenocarcinoma ISO RGD:1346474 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8710415 Ica1l islet cell autoantigen 1 like gene DOID:2394 ovarian cancer ISO RGD:1346474 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian cancer 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:4467 clear cell renal cell carcinoma ISO RGD:1346474 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 8710415 Ica1l islet cell autoantigen 1 like gene DOID:5041 esophageal cancer ISO RGD:1346474 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8710415 Ica1l islet cell autoantigen 1 like gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1346474 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8710415 Ica1l islet cell autoantigen 1 like gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1346474 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8710451 Skic2 SKI2 subunit of superkiller complex gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1351044 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8710451 Skic2 SKI2 subunit of superkiller complex gene DOID:0111414 trichohepatoenteric syndrome ISO RGD:1351044 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Trichohepatoenteric syndrome PMID:16199547|PMID:22444670|PMID:28492532 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 20260602 ClinVar ClinVar Annotator: match by term: SKIC2-related condition | ClinVar Annotator: match by term: TRICHOHEPATOENTERIC SYNDROME 2 | ClinVar Annotator: match by term: Trichohepatoenteric syndrome 2 | ClinVar Annotator: match by term: trichohepatoenteric syndrome 2 PMID:16199547|PMID:22444670|PMID:24033266|PMID:25741868|PMID:27050310|PMID:27431780|PMID:28492532|PMID:28496993|PMID:29527791|PMID:31681265|PMID:32313153|PMID:32963807|PMID:33114497|PMID:33249554|PMID:34414925|PMID:35607352 8710451 Skic2 SKI2 subunit of superkiller complex gene DOID:11054 urinary bladder cancer ISO RGD:1351044 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8710451 Skic2 SKI2 subunit of superkiller complex gene DOID:1115 sarcoma ISO RGD:1351044 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8710451 Skic2 SKI2 subunit of superkiller complex gene DOID:1324 lung cancer ISO RGD:1351044 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8710451 Skic2 SKI2 subunit of superkiller complex gene DOID:3275 thymoma ISO RGD:1351044 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8710451 Skic2 SKI2 subunit of superkiller complex gene DOID:4947 cholangiocarcinoma ISO RGD:1351044 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 8710451 Skic2 SKI2 subunit of superkiller complex gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1351044 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8710451 Skic2 SKI2 subunit of superkiller complex gene DOID:6039 uveal melanoma ISO RGD:1351044 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uveal melanoma PMID:24033266|PMID:25741868|PMID:28492532 8710451 Skic2 SKI2 subunit of superkiller complex gene DOID:630 genetic disease ISO RGD:1351044 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8710451 Skic2 SKI2 subunit of superkiller complex gene DOID:684 hepatocellular carcinoma ISO RGD:1351044 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:17576681|PMID:28492532|PMID:9536098 8710451 Skic2 SKI2 subunit of superkiller complex gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1351044 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8710483 LOC102006745 chromosome unknown open reading frame, human C5orf24 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1605291 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8710483 LOC102006745 chromosome unknown open reading frame, human C5orf24 gene DOID:4362 cervical cancer ISO RGD:1605291 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8710483 LOC102006745 chromosome unknown open reading frame, human C5orf24 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1605291 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8710483 LOC102006745 chromosome unknown open reading frame, human C5orf24 gene DOID:9119 acute myeloid leukemia ISO RGD:1605291 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8710511 Znf322 zinc finger protein 322 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1347331 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8710511 Znf322 zinc finger protein 322 gene DOID:3275 thymoma ISO RGD:1347331 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8710522 Tfam transcription factor A, mitochondrial gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1605718 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 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 20260519 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) | ClinVar Annotator: match by term: TFAM-related condition PMID:25741868|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:10534 stomach cancer ISO RGD:1605718 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 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:5082 liver cirrhosis ISO RGD:1605718 D RGD:9068941 20251106 CTD CTD Direct Evidence: therapeutic PMID:38241915 8710522 Tfam transcription factor A, mitochondrial gene DOID:5426 primary ovarian insufficiency ISO RGD:1605718 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 8710522 Tfam transcription factor A, mitochondrial gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1605718 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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:9002231 Fetal Growth Retardation ISO RGD:1605718 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: IUGR PMID:27448789 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:0050939 uterine corpus endometrial carcinoma ISO RGD:1607047 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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 20260602 ClinVar ClinVar Annotator: match by term: Microcephaly 28, primary, autosomal recessive 8710536 Rrp7a ribosomal RNA processing 7 homolog A gene DOID:10534 stomach cancer ISO RGD:1607047 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8710536 Rrp7a ribosomal RNA processing 7 homolog A gene DOID:1324 lung cancer ISO RGD:1607047 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8710536 Rrp7a ribosomal RNA processing 7 homolog A gene DOID:1909 melanoma ISO RGD:1607047 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8710536 Rrp7a ribosomal RNA processing 7 homolog A gene DOID:234 colon adenocarcinoma ISO RGD:1607047 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8710536 Rrp7a ribosomal RNA processing 7 homolog A gene DOID:3907 lung squamous cell carcinoma ISO RGD:1607047 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma 8710536 Rrp7a ribosomal RNA processing 7 homolog A gene DOID:4362 cervical cancer ISO RGD:1607047 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8710536 Rrp7a ribosomal RNA processing 7 homolog A gene DOID:5041 esophageal cancer ISO RGD:1607047 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8710536 Rrp7a ribosomal RNA processing 7 homolog A gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1607047 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8710554 Phlpp2 PH domain and leucine rich repeat protein phosphatase 2 gene DOID:10534 stomach cancer ISO RGD:1604636 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8710554 Phlpp2 PH domain and leucine rich repeat protein phosphatase 2 gene DOID:11054 urinary bladder cancer ISO RGD:1604636 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8710554 Phlpp2 PH domain and leucine rich repeat protein phosphatase 2 gene DOID:1115 sarcoma ISO RGD:1604636 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8710554 Phlpp2 PH domain and leucine rich repeat protein phosphatase 2 gene DOID:3275 thymoma ISO RGD:1604636 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8710554 Phlpp2 PH domain and leucine rich repeat protein phosphatase 2 gene DOID:4947 cholangiocarcinoma ISO RGD:1604636 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 8710554 Phlpp2 PH domain and leucine rich repeat protein phosphatase 2 gene DOID:5041 esophageal cancer ISO RGD:1604636 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8710554 Phlpp2 PH domain and leucine rich repeat protein phosphatase 2 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1604636 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8710554 Phlpp2 PH domain and leucine rich repeat protein phosphatase 2 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1604636 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8710588 Sez6l seizure related 6 homolog like gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1344560 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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: Prostate cancer PMID:23265383 8710588 Sez6l seizure related 6 homolog like gene DOID:10283 prostate cancer ISO RGD:1344560 D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 8710588 Sez6l seizure related 6 homolog like gene DOID:10534 stomach cancer ISO RGD:1344560 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8710588 Sez6l seizure related 6 homolog like gene DOID:11054 urinary bladder cancer ISO RGD:1344560 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8710588 Sez6l seizure related 6 homolog like gene DOID:1115 sarcoma ISO RGD:1344560 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8710588 Sez6l seizure related 6 homolog like gene DOID:12849 autistic disorder ISO RGD:1344560 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Autism, susceptibility to, 15 PMID:25741868 8710588 Sez6l seizure related 6 homolog like gene DOID:1324 lung cancer ISO RGD:1344560 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8710588 Sez6l seizure related 6 homolog like gene DOID:1909 melanoma ISO RGD:1344560 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8710588 Sez6l seizure related 6 homolog like gene DOID:4362 cervical cancer ISO RGD:1344560 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8710588 Sez6l seizure related 6 homolog like gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1344560 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8710588 Sez6l seizure related 6 homolog like gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1344560 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8710588 Sez6l seizure related 6 homolog like gene DOID:9008952 Breast Cancer, Familial ISO RGD:1344560 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8710613 Lrrc59 leucine rich repeat containing 59 gene DOID:1324 lung cancer ISO RGD:1605059 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 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:3907 lung squamous cell carcinoma ISO RGD:1605059 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma 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:5746 ovarian serous cystadenocarcinoma ISO RGD:1605059 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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:0050939 uterine corpus endometrial carcinoma ISO RGD:1353382 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8710624 Ttc19 tetratricopeptide repeat domain 19 gene DOID:0060135 apraxia ISO RGD:1353382 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Apraxia PMID:25741868 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 20260602 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 | ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 2 | 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:25741868|PMID:25887401|PMID:25899669|PMID:28128857|PMID:28492532|PMID:38127101|PMID:9536098 8710624 Ttc19 tetratricopeptide repeat domain 19 gene DOID:0080111 mitochondrial complex III deficiency nuclear type 1 ISO RGD:1353382 D RGD:9068941 20260604 CTD CTD Direct Evidence: marker/mechanism PMID:21278747 8710624 Ttc19 tetratricopeptide repeat domain 19 gene DOID:1059 intellectual disability ISO RGD:1353382 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8710624 Ttc19 tetratricopeptide repeat domain 19 gene DOID:11054 urinary bladder cancer ISO RGD:1353382 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8710624 Ttc19 tetratricopeptide repeat domain 19 gene DOID:12849 autistic disorder ISO RGD:1353382 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Autistic disorder of childhood onset 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:2841 asthma ISO RGD:1353382 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Asthma PMID:25741868 8710624 Ttc19 tetratricopeptide repeat domain 19 gene DOID:4362 cervical cancer ISO RGD:1353382 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8710624 Ttc19 tetratricopeptide repeat domain 19 gene DOID:5041 esophageal cancer ISO RGD:1353382 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 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:543 dystonia ISO RGD:1353382 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25741868 8710624 Ttc19 tetratricopeptide repeat domain 19 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1353382 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8710624 Ttc19 tetratricopeptide repeat domain 19 gene DOID:630 genetic disease ISO RGD:1353382 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8710624 Ttc19 tetratricopeptide repeat domain 19 gene DOID:684 hepatocellular carcinoma ISO RGD:1353382 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8710624 Ttc19 tetratricopeptide repeat domain 19 gene DOID:700 mitochondrial metabolism disease ISO RGD:1353382 D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Mitochondrial disease | ClinVar Annotator: match by term: mitochondrial disease PMID:25741868 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:9001722 Dysarthria ISO RGD:1353382 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Dysarthria PMID:25741868 8710624 Ttc19 tetratricopeptide repeat domain 19 gene DOID:9004866 Ataxia ISO RGD:1353382 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ataxia PMID:25741868 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 8710624 Ttc19 tetratricopeptide repeat domain 19 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1353382 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8710624 Ttc19 tetratricopeptide repeat domain 19 gene DOID:9008086 Developmental Disabilities ISO RGD:1353382 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 8710659 Cnnm1 cyclin and CBS domain divalent metal cation transport mediator 1 gene DOID:10534 stomach cancer ISO RGD:1318672 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8710659 Cnnm1 cyclin and CBS domain divalent metal cation transport mediator 1 gene DOID:1324 lung cancer ISO RGD:1318672 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 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:3907 lung squamous cell carcinoma ISO RGD:1318672 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma 8710659 Cnnm1 cyclin and CBS domain divalent metal cation transport mediator 1 gene DOID:4362 cervical cancer ISO RGD:1318672 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8710659 Cnnm1 cyclin and CBS domain divalent metal cation transport mediator 1 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1318672 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 8710659 Cnnm1 cyclin and CBS domain divalent metal cation transport mediator 1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1318672 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8710659 Cnnm1 cyclin and CBS domain divalent metal cation transport mediator 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1318672 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 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 20260602 ClinVar ClinVar Annotator: match by term: CISD2-related condition | ClinVar Annotator: match by term: WOLFRAM SYNDROME 2 | ClinVar Annotator: match by term: Wolfram syndrome 2 PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 8710676 Cisd2 CDGSH iron sulfur domain 2 gene DOID:630 genetic disease ISO RGD:1603794 D RGD:8554872 20250729 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 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 20260602 ClinVar ClinVar Annotator: match by term: FERMT1-related condition | ClinVar Annotator: match by term: KINDLER SYNDROME | ClinVar Annotator: match by term: Kindler syndrome | ClinVar Annotator: match by term: Kindler's syndrome 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:28492532|PMID:29130490|PMID:29453417|PMID:30838128|PMID:31340837|PMID:31957900 8710684 Fermt1 FERM domain containing kindlin 1 gene DOID:10534 stomach cancer ISO RGD:1315645 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8710684 Fermt1 FERM domain containing kindlin 1 gene DOID:11054 urinary bladder cancer ISO RGD:1315645 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8710684 Fermt1 FERM domain containing kindlin 1 gene DOID:11830 myopia ISO RGD:1315645 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Myopia 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:1324 lung cancer ISO RGD:1315645 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8710684 Fermt1 FERM domain containing kindlin 1 gene DOID:234 colon adenocarcinoma ISO RGD:1315645 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 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:3275 thymoma ISO RGD:1315645 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8710684 Fermt1 FERM domain containing kindlin 1 gene DOID:4074 pancreatic adenocarcinoma ISO RGD:1315645 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma 8710684 Fermt1 FERM domain containing kindlin 1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1315645 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8710684 Fermt1 FERM domain containing kindlin 1 gene DOID:630 genetic disease ISO RGD:1315645 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8710684 Fermt1 FERM domain containing kindlin 1 gene DOID:9003228 Tooth Loss ISO RGD:1315645 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Tooth loss PMID:14962093|PMID:17916195|PMID:21936020|PMID:22466645|PMID:24346923|PMID:25741868|PMID:27293055|PMID:28492532|PMID:30838128|PMID:31340837|PMID:31957900 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:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1315645 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 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 8710684 Fermt1 FERM domain containing kindlin 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1315645 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8710719 Fndc7 fibronectin type III domain containing 7 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1604516 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8710719 Fndc7 fibronectin type III domain containing 7 gene DOID:9119 acute myeloid leukemia ISO RGD:1604516 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8710774 Asb13 ankyrin repeat and SOCS box containing 13 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1321264 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8710774 Asb13 ankyrin repeat and SOCS box containing 13 gene DOID:10534 stomach cancer ISO RGD:1321264 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8710774 Asb13 ankyrin repeat and SOCS box containing 13 gene DOID:11054 urinary bladder cancer ISO RGD:1321264 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8710774 Asb13 ankyrin repeat and SOCS box containing 13 gene DOID:1324 lung cancer ISO RGD:1321264 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8710774 Asb13 ankyrin repeat and SOCS box containing 13 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1321264 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 8710774 Asb13 ankyrin repeat and SOCS box containing 13 gene DOID:5041 esophageal cancer ISO RGD:1321264 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8710774 Asb13 ankyrin repeat and SOCS box containing 13 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1321264 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8710774 Asb13 ankyrin repeat and SOCS box containing 13 gene DOID:684 hepatocellular carcinoma ISO RGD:1321264 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8710774 Asb13 ankyrin repeat and SOCS box containing 13 gene DOID:9119 acute myeloid leukemia ISO RGD:1321264 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8710784 Itm2a integral membrane protein 2A gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1354301 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8710784 Itm2a integral membrane protein 2A gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1354301 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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:3275 thymoma ISO RGD:1354301 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8710784 Itm2a integral membrane protein 2A gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1354301 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 8710784 Itm2a integral membrane protein 2A gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1354301 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8710784 Itm2a integral membrane protein 2A gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1354301 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8710784 Itm2a integral membrane protein 2A gene DOID:9119 acute myeloid leukemia ISO RGD:1354301 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8710803 Sack1a scaffolding CK1 anchoring protein A gene DOID:0060058 lymphoma ISO RGD:1602845 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lymphoma 8710803 Sack1a scaffolding CK1 anchoring protein A gene DOID:4362 cervical cancer ISO RGD:1602845 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8710803 Sack1a scaffolding CK1 anchoring protein A gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1602845 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8710803 Sack1a scaffolding CK1 anchoring protein A gene DOID:6171 uterine carcinosarcoma ISO RGD:1602845 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8710803 Sack1a scaffolding CK1 anchoring protein A gene DOID:684 hepatocellular carcinoma ISO RGD:1602845 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8710803 Sack1a scaffolding CK1 anchoring protein A gene DOID:9000918 Disease Progression ISO RGD:1602845 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:34931434 8710803 Sack1a scaffolding CK1 anchoring protein A gene DOID:9002762 Ovarian Neoplasms ISO RGD:1602845 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:34931434 8710803 Sack1a scaffolding CK1 anchoring protein A gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1602845 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:34931434 8710803 Sack1a scaffolding CK1 anchoring protein A gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1602845 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8710803 Sack1a scaffolding CK1 anchoring protein A gene DOID:9008952 Breast Cancer, Familial ISO RGD:1602845 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8710812 Hspbp1 HSPA (Hsp70) binding protein 1 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:734029 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8710812 Hspbp1 HSPA (Hsp70) binding protein 1 gene DOID:10534 stomach cancer ISO RGD:734029 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8710812 Hspbp1 HSPA (Hsp70) binding protein 1 gene DOID:1115 sarcoma ISO RGD:734029 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8710812 Hspbp1 HSPA (Hsp70) binding protein 1 gene DOID:1324 lung cancer ISO RGD:734029 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8710812 Hspbp1 HSPA (Hsp70) binding protein 1 gene DOID:234 colon adenocarcinoma ISO RGD:734029 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8710812 Hspbp1 HSPA (Hsp70) binding protein 1 gene DOID:4362 cervical cancer ISO RGD:734029 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8710812 Hspbp1 HSPA (Hsp70) binding protein 1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:734029 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8710812 Hspbp1 HSPA (Hsp70) binding protein 1 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:734029 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 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:1324 lung cancer ISO RGD:736103 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8710848 C4bpa complement component 4 binding protein alpha gene DOID:5041 esophageal cancer ISO RGD:736103 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8710848 C4bpa complement component 4 binding protein alpha gene DOID:684 hepatocellular carcinoma ISO RGD:736103 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8710848 C4bpa complement component 4 binding protein alpha gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:736103 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 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 8710866 Ddx20 DEAD-box helicase 20 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1320818 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8710866 Ddx20 DEAD-box helicase 20 gene DOID:11054 urinary bladder cancer ISO RGD:1320818 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8710866 Ddx20 DEAD-box helicase 20 gene DOID:1115 sarcoma ISO RGD:1320818 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8710866 Ddx20 DEAD-box helicase 20 gene DOID:1324 lung cancer ISO RGD:1320818 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8710866 Ddx20 DEAD-box helicase 20 gene DOID:1909 melanoma ISO RGD:1320818 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8710866 Ddx20 DEAD-box helicase 20 gene DOID:2394 ovarian cancer ISO RGD:1320818 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian cancer 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 8710866 Ddx20 DEAD-box helicase 20 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1320818 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 8710866 Ddx20 DEAD-box helicase 20 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1320818 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8710866 Ddx20 DEAD-box helicase 20 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1320818 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8710866 Ddx20 DEAD-box helicase 20 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1320818 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8710866 Ddx20 DEAD-box helicase 20 gene DOID:9119 acute myeloid leukemia ISO RGD:1320818 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 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 20260616 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:12860912|PMID:17576681|PMID:18533079|PMID:20965760|PMID:21835320|PMID:22112859|PMID:23283745|PMID:23861362|PMID:24033266|PMID:24183960|PMID:24503780|PMID:24793961|PMID:25037680|PMID:25342278|PMID:25351510|PMID:25389285|PMID:25524337|PMID:25548289|PMID:25611685|PMID:25741868|PMID:26274955|PMID:27177193|PMID:27532257|PMID:28356264|PMID:28359939|PMID:28408708|PMID:28492532|PMID:28615295|PMID:28790153|PMID:28797094|PMID:29024827|PMID:29517769|PMID:30297972|PMID:30513141|PMID:31270709|PMID:33495597|PMID:33673806|PMID:34486814|PMID:34598319|PMID:37652022|PMID:37904629|PMID:38002985|PMID:38489124|PMID:9400381|PMID:9536098 8710882 Tpm1 tropomyosin 1 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:737098 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8710882 Tpm1 tropomyosin 1 gene DOID:0060480 left ventricular noncompaction ISO RGD:737098 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 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 20260616 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:25741868 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 20260616 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 PMID:17576681|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28790153|PMID:37652022|PMID:9536098 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 20260616 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 3 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 3 PMID:10400910|PMID:10900175|PMID:11044437|PMID:11136687|PMID:11603924|PMID:11606294|PMID:12473556|PMID:14734051|PMID:15000344|PMID:16014439|PMID:16504640|PMID:17576681|PMID:21295541|PMID:21320446|PMID:21376702|PMID:22155441|PMID:22187526|PMID:22462493|PMID:22789852|PMID:22794249|PMID:23283745|PMID:24005378|PMID:24033266|PMID:24183960|PMID:24503780|PMID:25351510|PMID:25389285|PMID:25548289|PMID:25611685|PMID:25741868|PMID:26274955|PMID:27177193|PMID:27532257|PMID:28359939|PMID:28408708|PMID:28492532|PMID:28615295|PMID:28790153|PMID:29024827|PMID:29496559|PMID:29517769|PMID:29540472|PMID:29760186|PMID:29907873|PMID:30871747|PMID:31179125|PMID:31270709|PMID:31983221|PMID:32731933|PMID:32882290|PMID:33495597|PMID:33642254|PMID:34486814|PMID:34598319|PMID:37652022|PMID:38002985|PMID:39436707|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: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 20260616 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1Y | ClinVar Annotator: match by term: LEFT VENTRICULAR NONCOMPACTION 9 | ClinVar Annotator: match by term: Left ventricular noncompaction 9 | ClinVar Annotator: match by term: TPM1-related condition PMID:11273725|PMID:15923195|PMID:16043485|PMID:17556658|PMID:19222994|PMID:19646950|PMID:21741356|PMID:23077624|PMID:23283745|PMID:23349452|PMID:23539503|PMID:24033266|PMID:24183960|PMID:24503780|PMID:25241052|PMID:25351510|PMID:25389285|PMID:25520664|PMID:25611685|PMID:25741868|PMID:26065842|PMID:26109583|PMID:26274955|PMID:26688388|PMID:26899768|PMID:27177193|PMID:27532257|PMID:27878731|PMID:28359939|PMID:28408708|PMID:28492532|PMID:28615295|PMID:28771489|PMID:28790153|PMID:29024827|PMID:29517769|PMID:29636697|PMID:29644095|PMID:29907873|PMID:30188508|PMID:30871747|PMID:31090107|PMID:31179125|PMID:31270709|PMID:31983221|PMID:32600061|PMID:32618513|PMID:32731933|PMID:32746448|PMID:32882290|PMID:33495597|PMID:33642254|PMID:33888711|PMID:34036930|PMID:34486814|PMID:34598319|PMID:36252119|PMID:37652022|PMID:38002985|PMID:39436707|PMID:9400381 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:11054 urinary bladder cancer ISO RGD:737098 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8710882 Tpm1 tropomyosin 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:737098 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:10900175|PMID:11044437|PMID:11136687|PMID:11603924|PMID:12169652|PMID:12860912|PMID:12900417|PMID:15059934|PMID:15249230|PMID:15479242|PMID:16199547|PMID:17576681|PMID:18533079|PMID:20161772|PMID:20215591|PMID:20965760|PMID:21295541|PMID:21310275|PMID:21320446|PMID:21454502|PMID:21642532|PMID:21835320|PMID:21839045|PMID:21840315|PMID:22112859|PMID:22155441|PMID:22187526|PMID:22462493|PMID:22464770|PMID:22789852|PMID:22958901|PMID:23147248|PMID:23283745|PMID:23349452|PMID:24033266|PMID:24183960|PMID:24374033|PMID:24503780|PMID:24510615|PMID:24548721|PMID:24793961|PMID:25037680|PMID:25241052|PMID:25342278|PMID:25351510|PMID:25389285|PMID:25524337|PMID:25548289|PMID:25611685|PMID:25741868|PMID:26025024|PMID:26274955|PMID:26688388|PMID:26899768|PMID:27177193|PMID:27532257|PMID:28138913|PMID:28356264|PMID:28359939|PMID:28408708|PMID:28492532|PMID:28615295|PMID:28732641|PMID:28771489|PMID:28790153|PMID:28797094|PMID:29024827|PMID:29121657|PMID:29255176|PMID:29496559|PMID:29517769|PMID:29540472|PMID:29644095|PMID:29907873|PMID:30022097|PMID:30188508|PMID:30297972|PMID:30453078|PMID:30513141|PMID:30847666|PMID:30871747|PMID:30923642|PMID:31090107|PMID:31179125|PMID:31270709|PMID:31308319|PMID:31513939|PMID:31737537|PMID:31983221|PMID:32458740|PMID:32600061|PMID:32746448|PMID:32830170|PMID:32882290|PMID:32969603|PMID:33019804|PMID:33020181|PMID:33082984|PMID:33495597|PMID:33673806|PMID:33888711|PMID:33954932|PMID:34036930|PMID:34486814|PMID:34598319|PMID:36252119|PMID:36739943|PMID:37652022|PMID:37904629|PMID:38002985|PMID:38223010|PMID:38836950|PMID:38874371|PMID:7729014|PMID:8205619|PMID:8774330|PMID:9060904|PMID:9245729|PMID:9400381|PMID:9536098 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 20250701 ClinVar 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:07729014|PMID:07898523|PMID:08205619|PMID:08523464|PMID:08774330|PMID:09060904|PMID:09440709|PMID:09822100|PMID:10400910|PMID:10900175|PMID:11106625|PMID:11606294|PMID:11968089|PMID:12473556|PMID:12858563|PMID:12860912|PMID:14734051|PMID:15000344|PMID:16014439|PMID:16365313|PMID:16504640|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18533079|PMID:19035361|PMID:20031602|PMID:20117437|PMID:20159828|PMID:20215591|PMID:20530761|PMID:21295541|PMID:21310275|PMID:21320446|PMID:21376702|PMID:21483645|PMID:21551322|PMID:22155441|PMID:22187526|PMID:22462493|PMID:22789852|PMID:22794249|PMID:23396983|PMID:23508784|PMID:23539503|PMID:23674513|PMID:23771913|PMID:24033266|PMID:24503780|PMID:24510615|PMID:24691700|PMID:25031304|PMID:25241052|PMID:25242052|PMID:25326635|PMID:25351510|PMID:25524337|PMID:25525159|PMID:25548289|PMID:25611685|PMID:25741868|PMID:26899768|PMID:26960954|PMID:27177193|PMID:27376658|PMID:27532257|PMID:27639548|PMID:28359939|PMID:28492532|PMID:28600229|PMID:28603979|PMID:28615295|PMID:28798025|PMID:28986452|PMID:29024827|PMID:29447731|PMID:29496559|PMID:29517769|PMID:29644095|PMID:29760186|PMID:30188508|PMID:30240712|PMID:30297972|PMID:30371277|PMID:30513141|PMID:30847666|PMID:30923642|PMID:31006259|PMID:31270709|PMID:31333075|PMID:31513939|PMID:31568572|PMID:32600061|PMID:32731933|PMID:32882290|PMID:33297573|PMID:33642254|PMID:33888711|PMID:33906374|PMID:34036930|PMID:34076677|PMID:34137518|PMID:34319370|PMID:34638741|PMID:34834072|PMID:34935411|PMID:35917600|PMID:36178741|PMID:36252119|PMID:37342443|PMID:37904629|PMID:7729014|PMID:7898523|PMID:8205619|PMID:8523464|PMID:9060904|PMID:9245729|PMID:9400381|PMID:9440709|PMID:9822100 8710882 Tpm1 tropomyosin 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:737098 D RGD:8554872 20260519 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:11106625|PMID:21310275|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26688388|PMID:26899768|PMID:27532257|PMID:28359939|PMID:28492532|PMID:29024827|PMID:29644095|PMID:30188508|PMID:30513141|PMID:30847666|PMID:30923642|PMID:31333075|PMID:31568572|PMID:32600061|PMID:33888711|PMID:34036930|PMID:36252119|PMID:37904629|PMID:9400381 8710882 Tpm1 tropomyosin 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:737098 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11106625|PMID:21310275|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26688388|PMID:26899768|PMID:27177193|PMID:27532257|PMID:28359939|PMID:28492532|PMID:29024827|PMID:29517769|PMID:29644095|PMID:30188508|PMID:30513141|PMID:30847666|PMID:30923642|PMID:31270709|PMID:31333075|PMID:31568572|PMID:32600061|PMID:33888711|PMID:34036930|PMID:36252119|PMID:37652022|PMID:37904629|PMID:9400381 8710882 Tpm1 tropomyosin 1 gene DOID:1324 lung cancer ISO RGD:737098 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8710882 Tpm1 tropomyosin 1 gene DOID:1909 melanoma ISO RGD:737098 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8710882 Tpm1 tropomyosin 1 gene DOID:234 colon adenocarcinoma ISO RGD:737098 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8710882 Tpm1 tropomyosin 1 gene DOID:3070 high grade glioma ISO RGD:737098 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Glioma susceptibility 1 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:4074 pancreatic adenocarcinoma ISO RGD:737098 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma 8710882 Tpm1 tropomyosin 1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:737098 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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 20260602 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:25741868|PMID:28492532|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:9008952 Breast Cancer, Familial ISO RGD:737098 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8710965 Spata2 spermatogenesis associated 2 gene DOID:1115 sarcoma ISO RGD:731260 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8710965 Spata2 spermatogenesis associated 2 gene DOID:1909 melanoma ISO RGD:731260 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8710965 Spata2 spermatogenesis associated 2 gene DOID:5041 esophageal cancer ISO RGD:731260 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8710978 Myo15a myosin XVA gene DOID:0050486 exanthem ISO RGD:1343693 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Skin rash PMID:15654330|PMID:17851452|PMID:24033266|PMID:27375115|PMID:28492532 8710978 Myo15a myosin XVA gene DOID:0050563 nonsyndromic deafness ISO RGD:1343693 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic Deafness | ClinVar Annotator: match by term: Nonsyndromic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:11735029|PMID:16199547|PMID:17546645|PMID:20642360|PMID:23208854|PMID:24033266|PMID:24123792|PMID:24875298|PMID:25741868|PMID:26969326|PMID:27375115|PMID:27870113|PMID:28000701|PMID:28492532|PMID:30311386|PMID:30953472|PMID:31579092|PMID:31980526|PMID:33398081|PMID:35346193 8710978 Myo15a myosin XVA gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1343693 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:25373420|PMID:25741868|PMID:28492532|PMID:30311386|PMID:30953472|PMID:35802133|PMID:36633841|PMID:39498320 8710978 Myo15a myosin XVA gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1343693 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8710978 Myo15a myosin XVA gene DOID:0051054 coarctation of the aorta ISO RGD:1343693 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Coarctation of aorta 8710978 Myo15a myosin XVA gene DOID:0060249 scoliosis ISO RGD:1343693 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Scoliosis PMID:24033266|PMID:26467025|PMID:28492532 8710978 Myo15a myosin XVA gene DOID:0060326 myelomeningocele ISO RGD:1343693 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Myelomeningocele 8710978 Myo15a myosin XVA gene DOID:0060768 Smith-Magenis syndrome ISO RGD:1343693 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Deafness, with smith-magenis syndrome PMID:11735029|PMID:17546645|PMID:24033266|PMID:25741868|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 20260609 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: Deafness, autosomal recessive 3 | ClinVar Annotator: match by term: MYO15A-related condition | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 3 PMID:11735029|PMID:12408074|PMID:16199547|PMID:17546645|PMID:17576681|PMID:17851452|PMID:19274735|PMID:19888295|PMID:20505086|PMID:20642360|PMID:21917145|PMID:22245518|PMID:22736430|PMID:22903915|PMID:23208854|PMID:23767834|PMID:23865914|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24123792|PMID:24130743|PMID:24206587|PMID:24498627|PMID:24654934|PMID:24875298|PMID:24949729|PMID:25262649|PMID:25373420|PMID:2574186|PMID:25741868|PMID:25788563|PMID:25792667|PMID:26011067|PMID:26226137|PMID:26242193|PMID:26445815|PMID:26467025|PMID:26633542|PMID:26763877|PMID:26810297|PMID:26969326|PMID:27018795|PMID:27068579|PMID:27344577|PMID:27375115|PMID:27573290|PMID:27635202|PMID:27734841|PMID:27870113|PMID:28000701|PMID:28383030|PMID:28390610|PMID:28492532|PMID:28984810|PMID:29196752|PMID:29482514|PMID:29692870|PMID:29907799|PMID:29986705|PMID:30139988|PMID:30303587|PMID:30311386|PMID:30579064|PMID:30622556|PMID:30665423|PMID:30682115|PMID:30733538|PMID:30828794|PMID:30896630|PMID:30953472|PMID:31379920|PMID:31389194|PMID:31579092|PMID:31581539|PMID:31589614|PMID:31827275|PMID:31850270|PMID:31980526|PMID:31992338|PMID:32238869|PMID:32279305|PMID:32387678|PMID:32617096|PMID:32623615|PMID:32658404|PMID:32737134|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:34416374|PMID:34599368|PMID:34733312|PMID:34744965|PMID:34974475|PMID:35062939|PMID:35346193|PMID:35440622|PMID:35580552|PMID:35640668|PMID:35802133|PMID:35939872|PMID:35982127|PMID:36217262|PMID:36401330|PMID:36472766|PMID:36515421|PMID:36568381|PMID:36597107|PMID:36633841|PMID:37438890|PMID:37811145|PMID:37996878|PMID:38374194|PMID:38610765|PMID:38868966|PMID:39333430|PMID:39336818|PMID:39498320|PMID:40275102|PMID:40377830|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:10003 sensorineural hearing loss ISO RGD:1343693 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment | ClinVar Annotator: match by term: Congenital sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:12408074|PMID:15654330|PMID:17546645|PMID:17576681|PMID:17851452|PMID:24033266|PMID:25741868|PMID:25792667|PMID:26467025|PMID:26969326|PMID:27068579|PMID:27375115|PMID:28492532|PMID:37811145|PMID:9536098 8710978 Myo15a myosin XVA gene DOID:10376 amblyopia ISO RGD:1343693 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Amblyopia PMID:15654330|PMID:17851452|PMID:24033266|PMID:27375115|PMID:28492532 8710978 Myo15a myosin XVA gene DOID:10534 stomach cancer ISO RGD:1343693 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8710978 Myo15a myosin XVA gene DOID:1059 intellectual disability ISO RGD:1343693 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17546645|PMID:25741868|PMID:28492532 8710978 Myo15a myosin XVA gene DOID:10907 microcephaly ISO RGD:1343693 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Microcephaly 8710978 Myo15a myosin XVA gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1343693 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Attention deficit hyperactivity disorder PMID:17546645|PMID:22245518|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386|PMID:31827275 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:1115 sarcoma ISO RGD:1343693 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8710978 Myo15a myosin XVA gene DOID:11252 microcytic anemia ISO RGD:1343693 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Microcytic anemia PMID:17546645|PMID:22245518|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386|PMID:31827275 8710978 Myo15a myosin XVA gene DOID:1240 leukemia ISO RGD:1343693 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Leukemia 8710978 Myo15a myosin XVA gene DOID:12849 autistic disorder ISO RGD:1343693 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Autism PMID:17546645|PMID:25741868|PMID:28492532 8710978 Myo15a myosin XVA gene DOID:1324 lung cancer ISO RGD:1343693 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer PMID:28492532 8710978 Myo15a myosin XVA gene DOID:13620 patent foramen ovale ISO RGD:1343693 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Patent foramen ovale PMID:17546645|PMID:22245518|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30311386|PMID:31827275 8710978 Myo15a myosin XVA gene DOID:13832 patent ductus arteriosus ISO RGD:1343693 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Patent ductus arteriosus 8710978 Myo15a myosin XVA gene DOID:1432 blindness ISO RGD:1561873 D RGD:9068941 20260604 RGD PMID:21479269|REF_RGD_ID:150429616 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:1657 ventricular septal defect ISO RGD:1343693 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ventricular septal defect PMID:17546645|PMID:22245518|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386|PMID:31827275 8710978 Myo15a myosin XVA gene DOID:1826 epilepsy ISO RGD:1343693 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Seizure PMID:17546645|PMID:23767834|PMID:24033266|PMID:24949729|PMID:25741868|PMID:28492532 8710978 Myo15a myosin XVA gene DOID:1882 atrial heart septal defect ISO RGD:1343693 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:21917145|PMID:23767834|PMID:24033266|PMID:2574186|PMID:25741868|PMID:25792667|PMID:26242193|PMID:27375115|PMID:27870113|PMID:28492532|PMID:30311386|PMID:30622556|PMID:31827275|PMID:32747562|PMID:33398081|PMID:35982127|PMID:38868966|PMID:7616538|PMID:7704031 8710978 Myo15a myosin XVA gene DOID:1909 melanoma ISO RGD:1343693 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8710978 Myo15a myosin XVA gene DOID:1969 cerebral palsy ISO RGD:1343693 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:17546645|PMID:23767834|PMID:24033266|PMID:24949729|PMID:25741868|PMID:28492532 8710978 Myo15a myosin XVA gene DOID:2975 cystic kidney disease ISO RGD:1343693 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Renal cyst PMID:21917145|PMID:23767834|PMID:24033266|PMID:2574186|PMID:25741868|PMID:25792667|PMID:26242193|PMID:27375115|PMID:27870113|PMID:28492532|PMID:30311386|PMID:30622556|PMID:31827275|PMID:32747562|PMID:33398081|PMID:35982127|PMID:38868966|PMID:7616538|PMID:7704031 8710978 Myo15a myosin XVA gene DOID:3275 thymoma ISO RGD:1343693 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8710978 Myo15a myosin XVA gene DOID:3907 lung squamous cell carcinoma ISO RGD:1343693 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma 8710978 Myo15a myosin XVA gene DOID:4362 cervical cancer ISO RGD:1343693 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8710978 Myo15a myosin XVA gene DOID:552 pneumonia ISO RGD:1343693 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Pneumonia PMID:24033266|PMID:26467025|PMID:28492532 8710978 Myo15a myosin XVA gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1343693 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8710978 Myo15a myosin XVA gene DOID:6171 uterine carcinosarcoma ISO RGD:1343693 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma PMID:24033266|PMID:25741868|PMID:28492532 8710978 Myo15a myosin XVA gene DOID:630 genetic disease ISO RGD:1343693 D RGD:8554872 20250506 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:35982127|PMID:38868966|PMID:7616538|PMID:7704031 8710978 Myo15a myosin XVA gene DOID:6420 pulmonary valve stenosis ISO RGD:1343693 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Pulmonic stenosis PMID:21917145|PMID:23767834|PMID:24033266|PMID:2574186|PMID:25741868|PMID:25792667|PMID:26242193|PMID:27375115|PMID:27870113|PMID:28492532|PMID:30311386|PMID:30622556|PMID:31827275|PMID:32747562|PMID:33398081|PMID:35982127|PMID:38868966|PMID:7616538|PMID:7704031 8710978 Myo15a myosin XVA gene DOID:684 hepatocellular carcinoma ISO RGD:1343693 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:25741868 8710978 Myo15a myosin XVA gene DOID:8488 polyhydramnios ISO RGD:1343693 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Polyhydramnios PMID:24033266|PMID:26467025|PMID:28492532 8710978 Myo15a myosin XVA gene DOID:8534 gastroesophageal reflux disease ISO RGD:1343693 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastroesophageal reflux 8710978 Myo15a myosin XVA gene DOID:9000006 Supraventricular Tachycardia ISO RGD:1343693 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Supraventricular tachycardia PMID:15654330|PMID:17851452|PMID:24033266|PMID:27375115|PMID:28492532 8710978 Myo15a myosin XVA gene DOID:9000323 Biventricular Hypertrophy ISO RGD:1343693 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Biventricular hypertrophy PMID:21917145|PMID:23767834|PMID:24033266|PMID:2574186|PMID:25741868|PMID:25792667|PMID:26242193|PMID:27375115|PMID:27870113|PMID:28492532|PMID:30311386|PMID:30622556|PMID:31827275|PMID:32747562|PMID:33398081|PMID:35982127|PMID:38868966|PMID:7616538|PMID:7704031 8710978 Myo15a myosin XVA gene DOID:9001276 Failure to Thrive ISO RGD:1343693 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:17546645|PMID:22245518|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30311386|PMID:31827275 8710978 Myo15a myosin XVA gene DOID:9003133 Hypertelorism ISO RGD:1343693 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:21917145|PMID:23767834|PMID:24033266|PMID:2574186|PMID:25741868|PMID:25792667|PMID:26242193|PMID:26467025|PMID:27375115|PMID:27870113|PMID:28492532|PMID:30311386|PMID:30622556|PMID:31827275|PMID:32747562|PMID:33398081|PMID:35982127|PMID:38868966|PMID:7616538|PMID:7704031 8710978 Myo15a myosin XVA gene DOID:9003566 Mesothelioma ISO RGD:1343693 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Mesothelioma 8710978 Myo15a myosin XVA gene DOID:9004507 Hirsutism ISO RGD:1343693 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hirsutism PMID:24033266|PMID:26467025|PMID:28492532 8710978 Myo15a myosin XVA gene DOID:9004538 Hearing Loss ISO RGD:1343693 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive | ClinVar Annotator: match by term: hearing loss PMID:17546645|PMID:17853461|PMID:21917145|PMID:22245518|PMID:23208854|PMID:23767834|PMID:24033266|PMID:24123792|PMID:24654934|PMID:24875298|PMID:25373420|PMID:2574186|PMID:25741868|PMID:25792667|PMID:26242193|PMID:26467025|PMID:26969326|PMID:27375115|PMID:27870113|PMID:28000701|PMID:28492532|PMID:28984810|PMID:30311386|PMID:30622556|PMID:30953472|PMID:31827275|PMID:31980526|PMID:32737134|PMID:32747562|PMID:33398081|PMID:35802133|PMID:35982127|PMID:36633841|PMID:37438890|PMID:38868966|PMID:39336818|PMID:39498320|PMID:7616538|PMID:7704031 8710978 Myo15a myosin XVA gene DOID:9004665 Pectus Carinatum ISO RGD:1343693 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Pectus carinatum PMID:24033266|PMID:26467025|PMID:28492532 8710978 Myo15a myosin XVA gene DOID:9005603 Muscle Hypotonia ISO RGD:1343693 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hypotonia PMID:24033266|PMID:26467025|PMID:28492532 8710978 Myo15a myosin XVA gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1343693 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8710978 Myo15a myosin XVA gene DOID:9007661 Dwarfism ISO RGD:1343693 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Short stature PMID:24033266|PMID:26467025|PMID:28492532 8710978 Myo15a myosin XVA gene DOID:9008086 Developmental Disabilities ISO RGD:1343693 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:24033266|PMID:26467025|PMID:28492532 8710978 Myo15a myosin XVA gene DOID:9008681 Deafness ISO RGD:1343693 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Deafness 8710978 Myo15a myosin XVA gene DOID:9008952 Breast Cancer, Familial ISO RGD:1343693 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8710978 Myo15a myosin XVA gene DOID:9119 acute myeloid leukemia ISO RGD:1343693 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:28492532 8711048 Tollip toll interacting protein gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1312257 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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:1115 sarcoma ISO RGD:1312257 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8711048 Tollip toll interacting protein gene DOID:1324 lung cancer ISO RGD:1312257 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 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:4362 cervical cancer ISO RGD:1312257 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8711048 Tollip toll interacting protein gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1312257 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 8711048 Tollip toll interacting protein gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1312257 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8711048 Tollip toll interacting protein gene DOID:9000575 Respiratory Signs and Symptoms ISO RGD:1312257 D RGD:9068941 20251204 CTD CTD Direct Evidence: marker/mechanism PMID:39009092 8711048 Tollip toll interacting protein gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1312257 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8711063 Slc4a1ap solute carrier family 4 member 1 adaptor protein gene DOID:11054 urinary bladder cancer ISO RGD:1316058 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8711063 Slc4a1ap solute carrier family 4 member 1 adaptor protein gene DOID:1115 sarcoma ISO RGD:1316058 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8711063 Slc4a1ap solute carrier family 4 member 1 adaptor protein gene DOID:3275 thymoma ISO RGD:1316058 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8711063 Slc4a1ap solute carrier family 4 member 1 adaptor protein gene DOID:4362 cervical cancer ISO RGD:1316058 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8711063 Slc4a1ap solute carrier family 4 member 1 adaptor protein gene DOID:5041 esophageal cancer ISO RGD:1316058 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8711063 Slc4a1ap solute carrier family 4 member 1 adaptor protein gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1316058 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8711063 Slc4a1ap solute carrier family 4 member 1 adaptor protein gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1316058 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8711063 Slc4a1ap solute carrier family 4 member 1 adaptor protein gene DOID:9008952 Breast Cancer, Familial ISO RGD:1316058 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 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:0051061 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:0070658 alcohol-associated liver disease severity ISO RGD:730844 D RGD:9068941 20200609 RGD PMID:24959006|REF_RGD_ID:15014784 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:11580996 D RGD:9068941 20250724 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder 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 mRNA:increased expression:omentum (rat) 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: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 protein:increased expression:retina (rat) 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: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: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:9004590 Acute Liver Failure ISO RGD:730844 D RGD:9068941 20260305 CTD CTD Direct Evidence: marker/mechanism PMID:41092397 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: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 structure-specific endonuclease 1 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1606299 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8711121 Aste1 asteroid structure-specific endonuclease 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 structure-specific endonuclease 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 structure-specific endonuclease 1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1606299 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8711121 Aste1 asteroid structure-specific endonuclease 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1606299 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8711142 Nek9 NIMA related kinase 9 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1316228 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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:0061266 lethal congenital contracture syndrome 10 ISO RGD:1316228 D RGD:7240710 20190315 OMIM 8711142 Nek9 NIMA related kinase 9 gene DOID:0061266 lethal congenital contracture syndrome 10 ISO RGD:1316228 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: LETHAL CONGENITAL CONTRACTURE SYNDROME 10 | ClinVar Annotator: match by term: Lethal congenital contracture syndrome 10 PMID:16199547|PMID:25741868|PMID:26908619|PMID:28492532|PMID:29096039 8711142 Nek9 NIMA related kinase 9 gene DOID:0080954 arthrogryposis multiplex congenita ISO RGD:1316228 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 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: Prostate cancer PMID:23265383 8711142 Nek9 NIMA related kinase 9 gene DOID:10283 prostate cancer ISO RGD:1316228 D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 8711142 Nek9 NIMA related kinase 9 gene DOID:10534 stomach cancer ISO RGD:1316228 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8711142 Nek9 NIMA related kinase 9 gene DOID:11054 urinary bladder cancer ISO RGD:1316228 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder PMID:16199547|PMID:25741868|PMID:26908619|PMID:28492532|PMID:29096039 8711142 Nek9 NIMA related kinase 9 gene DOID:1115 sarcoma ISO RGD:1316228 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8711142 Nek9 NIMA related kinase 9 gene DOID:11836 clubfoot ISO RGD:1316228 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clubfoot PMID:25741868 8711142 Nek9 NIMA related kinase 9 gene DOID:1324 lung cancer ISO RGD:1316228 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer PMID:16199547|PMID:25741868|PMID:26908619|PMID:28492532|PMID:29096039 8711142 Nek9 NIMA related kinase 9 gene DOID:1909 melanoma ISO RGD:1316228 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8711142 Nek9 NIMA related kinase 9 gene DOID:5041 esophageal cancer ISO RGD:1316228 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8711142 Nek9 NIMA related kinase 9 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1316228 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8711142 Nek9 NIMA related kinase 9 gene DOID:630 genetic disease ISO RGD:1316228 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|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:684 hepatocellular carcinoma ISO RGD:1316228 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8711142 Nek9 NIMA related kinase 9 gene DOID:9000197 Edema ISO RGD:1316228 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Edema PMID:25741868 8711142 Nek9 NIMA related kinase 9 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1316228 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 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 20260602 ClinVar ClinVar Annotator: match by term: Arthrogryposis, Perthes disease, and upward gaze palsy PMID:25741868 8711142 Nek9 NIMA related kinase 9 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1316228 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 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:9119 acute myeloid leukemia ISO RGD:1316228 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8711184 Hectd1 HECT domain E3 ubiquitin protein ligase 1 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1350415 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8711184 Hectd1 HECT domain E3 ubiquitin protein ligase 1 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1350415 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8711184 Hectd1 HECT domain E3 ubiquitin protein ligase 1 gene DOID:0080918 polymicrogyria ISO RGD:1350415 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Polymicrogyria PMID:25741868|PMID:39879987 8711184 Hectd1 HECT domain E3 ubiquitin protein ligase 1 gene DOID:10534 stomach cancer ISO RGD:1350415 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8711184 Hectd1 HECT domain E3 ubiquitin protein ligase 1 gene DOID:1059 intellectual disability ISO RGD:1350415 D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: intellectual disability PMID:25741868 8711184 Hectd1 HECT domain E3 ubiquitin protein ligase 1 gene DOID:1115 sarcoma ISO RGD:1350415 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8711184 Hectd1 HECT domain E3 ubiquitin protein ligase 1 gene DOID:1324 lung cancer ISO RGD:1350415 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8711184 Hectd1 HECT domain E3 ubiquitin protein ligase 1 gene DOID:1909 melanoma ISO RGD:1350415 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8711184 Hectd1 HECT domain E3 ubiquitin protein ligase 1 gene DOID:2234 focal epilepsy ISO RGD:1350415 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:25741868|PMID:39879987 8711184 Hectd1 HECT domain E3 ubiquitin protein ligase 1 gene DOID:3275 thymoma ISO RGD:1350415 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8711184 Hectd1 HECT domain E3 ubiquitin protein ligase 1 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1350415 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma 8711184 Hectd1 HECT domain E3 ubiquitin protein ligase 1 gene DOID:4074 pancreatic adenocarcinoma ISO RGD:1350415 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma 8711184 Hectd1 HECT domain E3 ubiquitin protein ligase 1 gene DOID:4362 cervical cancer ISO RGD:1350415 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8711184 Hectd1 HECT domain E3 ubiquitin protein ligase 1 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1350415 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 8711184 Hectd1 HECT domain E3 ubiquitin protein ligase 1 gene DOID:5041 esophageal cancer ISO RGD:1350415 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8711184 Hectd1 HECT domain E3 ubiquitin protein ligase 1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1350415 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 8711184 Hectd1 HECT domain E3 ubiquitin protein ligase 1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1350415 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8711184 Hectd1 HECT domain E3 ubiquitin protein ligase 1 gene DOID:6039 uveal melanoma ISO RGD:1350415 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uveal melanoma 8711184 Hectd1 HECT domain E3 ubiquitin protein ligase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1350415 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8711184 Hectd1 HECT domain E3 ubiquitin protein ligase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350415 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:39879987 8711184 Hectd1 HECT domain E3 ubiquitin protein ligase 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1350415 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8711184 Hectd1 HECT domain E3 ubiquitin protein ligase 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1350415 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8711236 Tulp1 TUB like protein 1 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1322319 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8711236 Tulp1 TUB like protein 1 gene DOID:0050572 cone-rod dystrophy ISO RGD:1322319 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Rod-cone dystrophy PMID:15024725|PMID:19339744|PMID:23847139|PMID:24265693|PMID:25074776|PMID:25342620|PMID:25741868|PMID:26047050|PMID:28492532|PMID:29843741|PMID:31549751|PMID:32531858|PMID:34588515|PMID:36729443|PMID:38841332 8711236 Tulp1 TUB like protein 1 gene DOID:0110078 Leber congenital amaurosis 1 ISO RGD:1322319 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 1 PMID:17620573|PMID:21792230|PMID:23661368|PMID:25741868|PMID:26856745|PMID:28492532|PMID:28559085|PMID:29178942|PMID:33691693|PMID:33851411 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 20260602 ClinVar ClinVar Annotator: match by term: LEBER CONGENITAL AMAUROSIS 15 | ClinVar Annotator: match by term: Leber congenital amaurosis 15 | ClinVar Annotator: match by term: TULP1-related condition PMID:10549638|PMID:15024725|PMID:18055821|PMID:19339744|PMID:21792230|PMID:22665969|PMID:23847139|PMID:24154662|PMID:24265693|PMID:25074776|PMID:25342620|PMID:25741868|PMID:26047050|PMID:26448634|PMID:26856745|PMID:28492532|PMID:28559085|PMID:29068140|PMID:29641573|PMID:29843741|PMID:30950243|PMID:31087526|PMID:31549751|PMID:31630094|PMID:3203739|PMID:32037395|PMID:32483926|PMID:32531858|PMID:33576794|PMID:34588515|PMID:36729443|PMID:36819107|PMID:38841332|PMID:8606774|PMID:9462750 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 20260519 ClinVar ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 14 | ClinVar Annotator: match by term: RETINITIS PIGMENTOSA, JUVENILE, TULP1-RELATED | ClinVar Annotator: match by term: Retinitis pigmentosa 14 PMID:10549638|PMID:15024725|PMID:16199547|PMID:17576681|PMID:17620573|PMID:18055821|PMID:19339744|PMID:22665969|PMID:23661368|PMID:23847139|PMID:24154662|PMID:24265693|PMID:25074776|PMID:25268133|PMID:25342620|PMID:2552515|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26427415|PMID:26987071|PMID:28492532|PMID:29843741|PMID:30950243|PMID:31213501|PMID:31429209|PMID:31549751|PMID:3203739|PMID:32037395|PMID:32483926|PMID:32531858|PMID:33921607|PMID:34588515|PMID:34906470|PMID:36284460|PMID:36729443|PMID:38540785|PMID:38841332|PMID:8606774|PMID:9462750|PMID:9536098 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 20260602 ClinVar ClinVar Annotator: match by term: Autosomal recessive Retinitis Pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10549638|PMID:15024725|PMID:15557452|PMID:17576681|PMID:18055821|PMID:25324289|PMID:25741868|PMID:26355662|PMID:28492532|PMID:28981474|PMID:30337596|PMID:30718709|PMID:32037395|PMID:32483926|PMID:32901917|PMID:33090715|PMID:33691693|PMID:33946315|PMID:34906470|PMID:36819107|PMID:36909829|PMID:8606774|PMID:9462751|PMID:9536098 8711236 Tulp1 TUB like protein 1 gene DOID:11830 myopia ISO RGD:1322319 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Myopia PMID:25741868|PMID:29178942 8711236 Tulp1 TUB like protein 1 gene DOID:1324 lung cancer ISO RGD:1322319 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8711236 Tulp1 TUB like protein 1 gene DOID:14791 Leber congenital amaurosis ISO RGD:1322319 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis | ClinVar Annotator: match by term: Retinal blindness, congenital PMID:10549638|PMID:15024725|PMID:17620573|PMID:18055821|PMID:19339744|PMID:22665969|PMID:23661368|PMID:23847139|PMID:24033266|PMID:24265693|PMID:24474277|PMID:25074776|PMID:25741868|PMID:26103963|PMID:28492532|PMID:29843741|PMID:30950243|PMID:31456290|PMID:31549751|PMID:31736247|PMID:32531858|PMID:33921607|PMID:34588515|PMID:34906470|PMID:38540785|PMID:38841332|PMID:8606774 8711236 Tulp1 TUB like protein 1 gene DOID:3275 thymoma ISO RGD:1322319 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8711236 Tulp1 TUB like protein 1 gene DOID:630 genetic disease ISO RGD:1322319 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8711236 Tulp1 TUB like protein 1 gene DOID:8499 night blindness ISO RGD:1322319 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Night blindness PMID:25342620|PMID:25741868|PMID:26047050|PMID:28492532|PMID:29843741|PMID:36729443 8711236 Tulp1 TUB like protein 1 gene DOID:8501 fundus dystrophy ISO RGD:1322319 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10549638|PMID:15024725|PMID:17576681|PMID:18055821|PMID:18432314|PMID:18936139|PMID:19339744|PMID:20065226|PMID:21987678|PMID:22605927|PMID:23591405|PMID:23847139|PMID:24154662|PMID:24265693|PMID:24547928|PMID:25074776|PMID:25268133|PMID:25342620|PMID:25741868|PMID:26047050|PMID:27375279|PMID:27440997|PMID:28418496|PMID:28492532|PMID:29068479|PMID:29178642|PMID:29641573|PMID:29843741|PMID:31054281|PMID:31213501|PMID:31456290|PMID:31549751|PMID:31589614|PMID:31736247|PMID:31816670|PMID:31877759|PMID:31964843|PMID:3203739|PMID:32037395|PMID:32483926|PMID:32531858|PMID:33173045|PMID:33749171|PMID:33781268|PMID:33921607|PMID:34426522|PMID:34588515|PMID:34758253|PMID:35672425|PMID:36284460|PMID:36460718|PMID:36729443|PMID:37510321|PMID:38841332|PMID:8606774|PMID:9462750|PMID:9536098|PMID:9660588 8711236 Tulp1 TUB like protein 1 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1322319 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8711236 Tulp1 TUB like protein 1 gene DOID:9649 congenital nystagmus ISO RGD:1322319 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Congenital nystagmus PMID:25741868|PMID:29178942 8711254 St7 suppression of tumorigenicity 7 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1343912 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8711254 St7 suppression of tumorigenicity 7 gene DOID:10534 stomach cancer ISO RGD:1343912 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8711254 St7 suppression of tumorigenicity 7 gene DOID:11054 urinary bladder cancer ISO RGD:1343912 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8711254 St7 suppression of tumorigenicity 7 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1343912 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8711254 St7 suppression of tumorigenicity 7 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1343912 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8711254 St7 suppression of tumorigenicity 7 gene DOID:9256 colorectal cancer ISO RGD:1343912 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colorectal cancer 8711305 Ryr1 ryanodine receptor 1 gene DOID:0050117 disease by infectious agent ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Recurrent infections PMID:25741868|PMID:28492532 8711305 Ryr1 ryanodine receptor 1 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 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 20260616 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy PMID:18813041|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:0050567 orofacial cleft ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Orofacial cleft PMID:22473935|PMID:25741868|PMID:25960145|PMID:28492532 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:0050753 cerebellar ataxia ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Dysmetria PMID:25741868|PMID:28492532|PMID:30236257 8711305 Ryr1 ryanodine receptor 1 gene DOID:0050840 cervical dystonia ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Torticollis PMID:23919265|PMID:25960145|PMID:28492532|PMID:28818389|PMID:30611313 8711305 Ryr1 ryanodine receptor 1 gene DOID:0060249 scoliosis ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Scoliosis PMID:15731587|PMID:16621918|PMID:16732084|PMID:16835904|PMID:16917943|PMID:17483490|PMID:19191333|PMID:19685112|PMID:20142353|PMID:21282829|PMID:21455645|PMID:22992668|PMID:23558838|PMID:25658027|PMID:25741868|PMID:25960145|PMID:26381711|PMID:28492532|PMID:30236257|PMID:31517061|PMID:36833224 8711305 Ryr1 ryanodine receptor 1 gene DOID:0060260 ptosis ISO RGD:1316413 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Ptosis PMID:25741868|PMID:26467025|PMID:28492532|PMID:30236257 8711305 Ryr1 ryanodine receptor 1 gene DOID:0060319 cardiac arrest ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cardiac arrest PMID:25741868|PMID:28492532 8711305 Ryr1 ryanodine receptor 1 gene DOID:0060930 developmental dysplasia of the hip ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Developmental dysplasia of the hip PMID:25741868|PMID:28492532 8711305 Ryr1 ryanodine receptor 1 gene DOID:0070056 autosomal dominant intellectual developmental disorder 26 ISO RGD:1316413 D RGD:8554872 20260616 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:19890226|PMID:19931341|PMID:20461000|PMID:23558838|PMID:23919265|PMID:25741868|PMID:27855725|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 20260519 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|PMID:36283893 8711305 Ryr1 ryanodine receptor 1 gene DOID:0070338 cerebellar hypoplasia ISO RGD:1316413 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Cerebellar hypoplasia PMID:11575529|PMID:12565913|PMID:1354642|PMID:15448513|PMID:18564801|PMID:19346234|PMID:19648156|PMID:19890226|PMID:19931341|PMID:20461000|PMID:23558838|PMID:23919265|PMID:25741868|PMID:27855725|PMID:27857962|PMID:28492532|PMID:30236257|PMID:6917943|PMID:9334205|PMID:9873004 8711305 Ryr1 ryanodine receptor 1 gene DOID:0080000 muscular disease ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: muscle disorder 8711305 Ryr1 ryanodine receptor 1 gene DOID:0080073 spina bifida occulta ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Spina bifida occulta PMID:16621918|PMID:16732084|PMID:16835904|PMID:16917943|PMID:17483490|PMID:19685112|PMID:20142353|PMID:21282829|PMID:22992668|PMID:23558838|PMID:25741868|PMID:25960145|PMID:26381711|PMID:28492532 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:0080102 congenital myopathy 4A ISO RGD:1316413 D RGD:8554872 20250722 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: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: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: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: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: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:22992668|PMID:23035052|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: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: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: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: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:36833224|PMID:36939041|PMID:37273706|PMID:37432431|PMID:37510298|PMID:37541188|PMID:37643885|PMID:37712079|PMID:37838930|PMID:37937776|PMID:38127101|PMID:39825153 8711305 Ryr1 ryanodine receptor 1 gene DOID:0080102 congenital myopathy 4A ISO RGD:1316413 D RGD:8554872 20250722 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: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:0080102 congenital myopathy 4A ISO RGD:1316413 D RGD:8554872 20260616 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:10484775|PMID:11524458|PMID:11575529|PMID:11668625|PMID:11741831|PMID:12059893|PMID:12123492|PMID:12208234|PMID:12486242|PMID:12642598|PMID:12700608|PMID:14732627|PMID:15210166|PMID:15448513|PMID:15731587|PMID:16163667|PMID:16199547|PMID:16372898|PMID:16732084|PMID:16835904|PMID:16917943|PMID:16958617|PMID:17033962|PMID:1743490|PMID:17483490|PMID:17576681|PMID:18063506|PMID:18193641|PMID:18253926|PMID:18414213|PMID:18564801|PMID:18813041|PMID:19191329|PMID:19191333|PMID:19346234|PMID:19648156|PMID:19807743|PMID:20080402|PMID:20301325|PMID:20301436|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21455645|PMID:21674524|PMID:21795085|PMID:21878807|PMID:21911697|PMID:21918424|PMID:22415532|PMID:22473935|PMID:22851008|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23204524|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24361844|PMID:24433488|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25214167|PMID:25256590|PMID:25476234|PMID:25525159|PMID:25637381|PMID:25658027|PMID:2567381|PMID:25735680|PMID:25741868|PMID:25957634|PMID:25958340|PMID:25960145|PMID:26019235|PMID:26068069|PMID:26188342|PMID:26332594|PMID:26467025|PMID:26578207|PMID:26633545|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:27854218|PMID:27855725|PMID:27857962|PMID:28259615|PMID:28403410|PMID:28492532|PMID:28686619|PMID:28687594|PMID:28818389|PMID:29172004|PMID:29298851|PMID:29344738|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:30872186|PMID:30932294|PMID:31055738|PMID:31107960|PMID:31127727|PMID:31165076|PMID:31206373|PMID:31301762|PMID:31304636|PMID:31407473|PMID:31517061|PMID:31559918|PMID:31680123|PMID:31680349|PMID:31994743|PMID:32008650|PMID:32054689|PMID:32236737|PMID:32304219|PMID:32403337|PMID:32528171|PMID:32969603|PMID:32978841|PMID:33190635|PMID:33333461|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33646171|PMID:33726816|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34316023|PMID:34411415|PMID:34428338|PMID:34440373|PMID:34463354|PMID:34627702|PMID:34645488|PMID:35081925|PMID:35178478|PMID:35428369|PMID:35548885|PMID:35549722|PMID:35599849|PMID:35627144|PMID:35697689|PMID:35718563|PMID:35948506|PMID:36208971|PMID:36516687|PMID:36628841|PMID:36833224|PMID:36939041|PMID:37510298|PMID:37541188|PMID:37670077|PMID:37937776|PMID:38127101|PMID:39891418|PMID:39966651|PMID:41153347|PMID:8220423|PMID:8592342|PMID:9334205|PMID:9450902|PMID:9497245|PMID:9536098|PMID:9873004 8711305 Ryr1 ryanodine receptor 1 gene DOID:0080111 mitochondrial complex III deficiency nuclear type 1 ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Decreased activity of mitochondrial complex III PMID:25741868|PMID:28492532 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: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 20260602 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita | ClinVar Annotator: match by term: Guérin-Stern syndrome PMID:19454545|PMID:20301325|PMID:20839240|PMID:21911697|PMID:22473935|PMID:23394784|PMID:23826317|PMID:23919265|PMID:25637381|PMID:25658027|PMID:2567381|PMID:25735680|PMID:25741868|PMID:26188342|PMID:26332594|PMID:27382027|PMID:27452334|PMID:28492532|PMID:28818389|PMID:29298851|PMID:29635721|PMID:30236257|PMID:30406384|PMID:30652412|PMID:31407473|PMID:31680123|PMID:32008650|PMID:32978841|PMID:33190635|PMID:34463354|PMID:34627702|PMID:35548885|PMID:36516687|PMID:36833224|PMID:36939041|PMID:38127101 8711305 Ryr1 ryanodine receptor 1 gene DOID:0080990 King Denborough syndrome ISO RGD:1316413 D RGD:7240710 20260701 OMIM 8711305 Ryr1 ryanodine receptor 1 gene DOID:0080990 King Denborough syndrome ISO RGD:1316413 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: KING-DENBOROUGH SYNDROME | ClinVar Annotator: match by term: King Denborough syndrome PMID:10051009|PMID:10484775|PMID:10612851|PMID:1069529|PMID:10700782|PMID:10793526|PMID:10823104|PMID:11524458|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12124989|PMID:12151923|PMID:12208234|PMID:12411786|PMID:12411788|PMID:12486242|PMID:12642598|PMID:12700608|PMID:12709367|PMID:14670767|PMID:14732627|PMID:15210166|PMID:15281512|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16163667|PMID:16199547|PMID:16372898|PMID:16732084|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16958617|PMID:17033962|PMID:17081125|PMID:17081152|PMID:1743490|PMID:17483490|PMID:17576681|PMID:17667681|PMID:18063506|PMID:18193641|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18564801|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19191329|PMID:19191333|PMID:19346234|PMID:19648156|PMID:19807743|PMID:19825159|PMID:20080402|PMID:20301325|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21455645|PMID:21674524|PMID:21795085|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22415532|PMID:22473935|PMID:22851008|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23204524|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24361844|PMID:24433488|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25214167|PMID:25268394|PMID:25476234|PMID:25525159|PMID:25635128|PMID:25637381|PMID:25658027|PMID:2567381|PMID:25735680|PMID:25741868|PMID:25957634|PMID:25958340|PMID:25960145|PMID:26019235|PMID:26068069|PMID:26188342|PMID:26332594|PMID:26467025|PMID:26578207|PMID:26633545|PMID:26951757|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:28063098|PMID:28259615|PMID:28269792|PMID:28326467|PMID:28492532|PMID:28686619|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29298851|PMID:29344738|PMID:29417091|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30652412|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30872186|PMID:30932294|PMID:31055738|PMID:31107960|PMID:31127727|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:31994743|PMID:32008650|PMID:32054689|PMID:32236737|PMID:32304219|PMID:32403337|PMID:32528171|PMID:32978841|PMID:33190635|PMID:33333461|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33646171|PMID:33726816|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34316023|PMID:34411415|PMID:34428338|PMID:34440373|PMID:34463354|PMID:34528764|PMID:34627702|PMID:34645488|PMID:34904211|PMID:35081925|PMID:35304488|PMID:35361824|PMID:35428369|PMID:35548885|PMID:35549722|PMID:35599849|PMID:35627144|PMID:35697689|PMID:35718563|PMID:35948506|PMID:36208971|PMID:36516687|PMID:36628841|PMID:36833224|PMID:36939041|PMID:37510298|PMID:37541188|PMID:37670077|PMID:37787745|PMID:37937776|PMID:38127101|PMID:39891418|PMID:39966651|PMID:41153347|PMID:7849712|PMID:7881417|PMID:8220423|PMID:8592342|PMID:8661021|PMID:9030597|PMID:9334205|PMID:9450902|PMID:9497245|PMID:9536098|PMID:9873004 8711305 Ryr1 ryanodine receptor 1 gene DOID:0080991 congenital myopathy 1B ISO RGD:1316413 D RGD:7240710 20260701 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: 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: 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 ISO RGD:1316413 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: CONGENITAL MYOPATHY 1B, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Congenital myopathy 1B, autosomal recessive | ClinVar Annotator: match by term: MULTICORE MYOPATHY | ClinVar Annotator: match by term: MULTIMINICORE DISEASE WITH EXTERNAL OPHTHALMOPLEGIA | ClinVar Annotator: match by term: Minicore myopathy | ClinVar Annotator: match by term: Minicore myopathy with external ophthalmoplegia | ClinVar Annotator: match by term: Multiminicore disease with external ophthalmoplegia | ClinVar Annotator: match by term: Multiminicore myopathy PMID:10051009|PMID:10484775|PMID:10612851|PMID:1069529|PMID:10700782|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11524458|PMID:11575529|PMID:11668625|PMID:11673462|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12123492|PMID:12124989|PMID:12151923|PMID:12208234|PMID:12411786|PMID:12411788|PMID:12434264|PMID:12486242|PMID:12642598|PMID:12668474|PMID:12700608|PMID:12709367|PMID:12732639|PMID:14670767|PMID:14732627|PMID:15210166|PMID:15281512|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16372898|PMID:16732084|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16958617|PMID:17033962|PMID:17081125|PMID:17081152|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667681|PMID:17710899|PMID:18063506|PMID:18193641|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18564801|PMID:18719443|PMID:18813041|PMID:18945287|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19648156|PMID:19807743|PMID:19825159|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21455645|PMID:21674524|PMID:21795085|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22415532|PMID:22473935|PMID:22851008|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|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:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24361844|PMID:24433488|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25466363|PMID:25476234|PMID:25525159|PMID:25614869|PMID:25635128|PMID:25637381|PMID:25642631|PMID:25658027|PMID:2567381|PMID:25735680|PMID:25741868|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26188342|PMID:26332594|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:27452334|PMID:27545679|PMID:27558158|PMID:27586648|PMID:27616680|PMID:27646467|PMID:27831900|PMID:27854218|PMID:27855725|PMID:27857962|PMID:28063098|PMID:28259615|PMID:28269792|PMID:28326467|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28496993|PMID:28686619|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30652412|PMID:30724636|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30872186|PMID:30932294|PMID:31055738|PMID:31107960|PMID:31127727|PMID:31130284|PMID:31165076|PMID:31206373|PMID:31304636|PMID:31321302|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31589614|PMID:31680123|PMID:31680349|PMID:31994743|PMID:32008650|PMID:32054689|PMID:32236737|PMID:32304219|PMID:32371413|PMID:32403337|PMID:32528171|PMID:32969603|PMID:32978841|PMID:33190635|PMID:33333461|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33646171|PMID:33726816|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34316023|PMID:34411415|PMID:34428338|PMID:34440373|PMID:34463354|PMID:34528764|PMID:34627702|PMID:34645488|PMID:34904211|PMID:35081925|PMID:35361824|PMID:35428369|PMID:35548885|PMID:35549722|PMID:35599849|PMID:35627144|PMID:35628876|PMID:35693006|PMID:35697689|PMID:35718563|PMID:35948506|PMID:36208971|PMID:36516687|PMID:36628841|PMID:36833224|PMID:36939041|PMID:36964972|PMID:37510298|PMID:37541188|PMID:37670077|PMID:37787745|PMID:37937776|PMID:38002952|PMID:38127101|PMID:38162159|PMID:38982518|PMID:39891418|PMID:39966651|PMID:41153347|PMID:7849712|PMID:7881417|PMID:8010475|PMID:8220423|PMID:8592342|PMID:8661021|PMID:9030597|PMID:9334205|PMID:9450902|PMID:9497245 8711305 Ryr1 ryanodine receptor 1 gene DOID:0080991 congenital myopathy 1B ISO RGD:1316413 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: CONGENITAL MYOPATHY 1B, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Congenital myopathy 1B, autosomal recessive | ClinVar Annotator: match by term: MULTICORE MYOPATHY | ClinVar Annotator: match by term: MULTIMINICORE DISEASE WITH EXTERNAL OPHTHALMOPLEGIA | ClinVar Annotator: match by term: Minicore myopathy | ClinVar Annotator: match by term: Minicore myopathy with external ophthalmoplegia | ClinVar Annotator: match by term: Multiminicore disease with external ophthalmoplegia | ClinVar Annotator: match by term: Multiminicore myopathy PMID:9536098|PMID:9873004 8711305 Ryr1 ryanodine receptor 1 gene DOID:0080992 rhabdomyolysis-myalgia syndrome ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Rhabdomyolysis-myalgia syndrome PMID:25741868 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 20260602 ClinVar ClinVar Annotator: match by term: Congenital myopathy | ClinVar Annotator: match by term: Myopathy, congenital PMID:17033962|PMID:1743490|PMID:17483490|PMID:20301325|PMID:20839240|PMID:21062345|PMID:21911697|PMID:22473935|PMID:23394784|PMID:23919265|PMID:24088041|PMID:24195946|PMID:25637381|PMID:25658027|PMID:2567381|PMID:25735680|PMID:25741868|PMID:26188342|PMID:26332594|PMID:26633545|PMID:27382027|PMID:27452334|PMID:28492532|PMID:29172004|PMID:29298851|PMID:29635721|PMID:30155738|PMID:30236257|PMID:30406384|PMID:30611313|PMID:30652412|PMID:30724636|PMID:31055738|PMID:31107960|PMID:31407473|PMID:31680123|PMID:32008650|PMID:32236737|PMID:32403337|PMID:32978841|PMID:33190635|PMID:34463354|PMID:34627702|PMID:35548885|PMID:36516687|PMID:36833224|PMID:36939041|PMID:37670077|PMID:37937776|PMID:38127101 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:0110633 rigid spine muscular dystrophy 1 ISO RGD:1316413 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Multi-minicore disease and atypical periodic paralysis 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:26578207|PMID:26633545|PMID:27854218|PMID:28492532|PMID:28818389|PMID:30609409|PMID:30611313|PMID:31680349|PMID:33333461 8711305 Ryr1 ryanodine receptor 1 gene DOID:0110764 hereditary spastic paraplegia 11 ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gait disturbance PMID:20583297|PMID:20839240|PMID:23919265|PMID:25741868|PMID:28492532|PMID:28818389 8711305 Ryr1 ryanodine receptor 1 gene DOID:0110838 Usher syndrome type 2A ISO RGD:1316413 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: USH2A-related disorder PMID:25741868|PMID:28492532 8711305 Ryr1 ryanodine receptor 1 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:11873057|PMID:21118704|PMID:23558838|PMID:25741868|PMID:25958340|PMID:28492532|PMID:35697689 8711305 Ryr1 ryanodine receptor 1 gene DOID:0111193 facioscapulohumeral muscular dystrophy 2 ISO RGD:1316413 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Weakness of facial musculature PMID:23826317|PMID:23919265|PMID:25741868|PMID:25960145|PMID:28492532|PMID:28818389|PMID:30611313 8711305 Ryr1 ryanodine receptor 1 gene DOID:0111217 autosomal dominant centronuclear myopathy ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy PMID:25658027|PMID:25741868|PMID:28492532|PMID:30236257|PMID:32054689 8711305 Ryr1 ryanodine receptor 1 gene DOID:0111338 isolated elevated serum creatine phosphokinase levels ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC PMID:24195946|PMID:25741868|PMID:28492532 8711305 Ryr1 ryanodine receptor 1 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1316413 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar Annotator: match by term: Fetal akinesia sequence PMID:20301325|PMID:20839240|PMID:21911697|PMID:22473935|PMID:23394784|PMID:23919265|PMID:25637381|PMID:25658027|PMID:2567381|PMID:25735680|PMID:25741868|PMID:26188342|PMID:26332594|PMID:27382027|PMID:27452334|PMID:28492532|PMID:29298851|PMID:29635721|PMID:30406384|PMID:30652412|PMID:31407473|PMID:31680123|PMID:32008650|PMID:32978841|PMID:33190635|PMID:34463354|PMID:34627702|PMID:35548885|PMID:36516687|PMID:36833224|PMID:36939041|PMID:38127101 8711305 Ryr1 ryanodine receptor 1 gene DOID:0111593 distal arthrogryposis type 10 ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Plantar flexion contracture PMID:25741868|PMID:28492532 8711305 Ryr1 ryanodine receptor 1 gene DOID:10534 stomach cancer ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:25741868|PMID:26467025|PMID:28492532 8711305 Ryr1 ryanodine receptor 1 gene DOID:1059 intellectual disability ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability PMID:25658027|PMID:25741868|PMID:28492532|PMID:30236257 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:10892 hypospadias ISO RGD:1316413 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Hypospadias PMID:20301325|PMID:20839240|PMID:21911697|PMID:22473935|PMID:23394784|PMID:23919265|PMID:25637381|PMID:25658027|PMID:2567381|PMID:25735680|PMID:25741868|PMID:26188342|PMID:26332594|PMID:27382027|PMID:27452334|PMID:28492532|PMID:29298851|PMID:29635721|PMID:30406384|PMID:30652412|PMID:31407473|PMID:31680123|PMID:32008650|PMID:32978841|PMID:33190635|PMID:34463354|PMID:34627702|PMID:35548885|PMID:36516687|PMID:36833224|PMID:36939041|PMID:38127101 8711305 Ryr1 ryanodine receptor 1 gene DOID:10907 microcephaly ISO RGD:1316413 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:11575529|PMID:12565913|PMID:1354642|PMID:15448513|PMID:18564801|PMID:19346234|PMID:19648156|PMID:19890226|PMID:19931341|PMID:20461000|PMID:22473935|PMID:23558838|PMID:23919265|PMID:25741868|PMID:25960145|PMID:27234031|PMID:27855725|PMID:27857962|PMID:28492532|PMID:28818389|PMID:30236257|PMID:6917943|PMID:9334205|PMID:9873004 8711305 Ryr1 ryanodine receptor 1 gene DOID:11111 hydronephrosis ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hydronephrosis PMID:23919265|PMID:25960145|PMID:28492532|PMID:28818389|PMID:30611313 8711305 Ryr1 ryanodine receptor 1 gene DOID:1115 sarcoma ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8711305 Ryr1 ryanodine receptor 1 gene DOID:11162 respiratory failure ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Respiratory failure | ClinVar Annotator: match by term: Respiratory insufficiency PMID:20301325|PMID:20839240|PMID:21911697|PMID:22473935|PMID:23394784|PMID:23919265|PMID:25637381|PMID:25658027|PMID:2567381|PMID:25735680|PMID:25741868|PMID:26188342|PMID:26332594|PMID:27382027|PMID:27452334|PMID:28492532|PMID:29298851|PMID:29635721|PMID:30406384|PMID:30652412|PMID:31407473|PMID:31680123|PMID:32008650|PMID:32978841|PMID:33190635|PMID:34463354|PMID:34625927|PMID:34627702|PMID:35548885|PMID:36307859|PMID:36516687|PMID:36833224|PMID:36939041|PMID:38127101|PMID:39825153 8711305 Ryr1 ryanodine receptor 1 gene DOID:11162 respiratory failure ISO RGD:1316413 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Respiratory failure | ClinVar Annotator: match by term: Respiratory insufficiency PMID:20301325|PMID:20839240|PMID:21911697|PMID:22473935|PMID:23394784|PMID:23919265|PMID:25637381|PMID:25658027|PMID:2567381|PMID:25735680|PMID:25741868|PMID:26188342|PMID:26332594|PMID:27382027|PMID:27452334|PMID:28492532|PMID:29298851|PMID:29635721|PMID:30406384|PMID:30652412|PMID:31407473|PMID:31680123|PMID:32008650|PMID:32978841|PMID:33190635|PMID:34463354|PMID:34625927|PMID:34627702|PMID:35548885|PMID:36307859|PMID:36516687|PMID:36833224|PMID:36939041|PMID:38127101 8711305 Ryr1 ryanodine receptor 1 gene DOID:11252 microcytic anemia ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Microcytic anemia PMID:23919265|PMID:25741868|PMID:25960145|PMID:28492532|PMID:28818389|PMID:30611313 8711305 Ryr1 ryanodine receptor 1 gene DOID:11383 cryptorchidism ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cryptorchidism PMID:20839240|PMID:25741868|PMID:28492532|PMID:32403337|PMID:33333461|PMID:33458582 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:11724 limb-girdle muscular dystrophy ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy PMID:17033962|PMID:1743490|PMID:17483490|PMID:21062345|PMID:22473935|PMID:23919265|PMID:24088041|PMID:25741868|PMID:26633545|PMID:28492532|PMID:29172004|PMID:30155738|PMID:30611313|PMID:31055738|PMID:31107960|PMID:32236737|PMID:32403337|PMID:37670077 8711305 Ryr1 ryanodine receptor 1 gene DOID:11830 myopia ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Myopia PMID:11873057|PMID:12208234|PMID:12411788|PMID:16163667|PMID:16917943|PMID:19825159|PMID:20681998|PMID:21118704|PMID:23558838|PMID:25637381|PMID:25741868|PMID:25957634|PMID:25958340|PMID:28492532|PMID:28687594|PMID:29169929|PMID:30236257|PMID:34008892|PMID:34904211|PMID:35697689|PMID:37787745|PMID:41153347 8711305 Ryr1 ryanodine receptor 1 gene DOID:12270 coloboma ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Congenital ocular coloboma PMID:12208234|PMID:12411788|PMID:16163667|PMID:16917943|PMID:19825159|PMID:20681998|PMID:21118704|PMID:23558838|PMID:25637381|PMID:25741868|PMID:25957634|PMID:28492532|PMID:28687594|PMID:29169929|PMID:30236257|PMID:34008892|PMID:34904211|PMID:37787745|PMID:41153347 8711305 Ryr1 ryanodine receptor 1 gene DOID:12849 autistic disorder ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868 8711305 Ryr1 ryanodine receptor 1 gene DOID:1287 cardiovascular system disease ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Abnormality of the cardiovascular system PMID:11873057|PMID:21118704|PMID:23558838|PMID:25741868|PMID:25958340|PMID:28492532 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:1324 lung cancer ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8711305 Ryr1 ryanodine receptor 1 gene DOID:1389 polyneuropathy ISO RGD:1316413 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Polyneuropathy PMID:12059893|PMID:16163667|PMID:21118704|PMID:22992668|PMID:25741868|PMID:28492532|PMID:30236257|PMID:31301762 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:1459 hypothyroidism ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hypothyroidism PMID:25741868|PMID:28492532 8711305 Ryr1 ryanodine receptor 1 gene DOID:14717 centronuclear myopathy ISO RGD:1316413 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Centronuclear myopathy | ClinVar Annotator: match by term: Myotubular myopathy PMID:16199547|PMID:17576681|PMID:18253926|PMID:19454545|PMID:20583297|PMID:20839240|PMID:21062345|PMID:22752422|PMID:23553484|PMID:23826317|PMID:23919265|PMID:25214167|PMID:25525159|PMID:25635128|PMID:25642631|PMID:25741868|PMID:25960145|PMID:27855725|PMID:28269792|PMID:28492532|PMID:28818389|PMID:30236257|PMID:30611313|PMID:33333461|PMID:33767344|PMID:35627144|PMID:35628876|PMID:38162159|PMID:38982518|PMID:9536098 8711305 Ryr1 ryanodine receptor 1 gene DOID:1596 depressive disorder ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Depression PMID:12208234|PMID:12411788|PMID:16163667|PMID:16917943|PMID:19825159|PMID:20681998|PMID:21118704|PMID:23558838|PMID:25637381|PMID:25741868|PMID:25957634|PMID:25960145|PMID:28492532|PMID:28687594|PMID:29169929|PMID:30236257|PMID:30788618|PMID:34008892|PMID:34904211|PMID:35697689|PMID:37787745|PMID:41153347 8711305 Ryr1 ryanodine receptor 1 gene DOID:1824 status epilepticus ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Status epilepticus PMID:25741868|PMID:28492532 8711305 Ryr1 ryanodine receptor 1 gene DOID:1826 epilepsy ISO RGD:1316413 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:11575529|PMID:12565913|PMID:1354642|PMID:15448513|PMID:18564801|PMID:19346234|PMID:19648156|PMID:19890226|PMID:19931341|PMID:20461000|PMID:23558838|PMID:23919265|PMID:25658027|PMID:25741868|PMID:27855725|PMID:27857962|PMID:28492532|PMID:30236257|PMID:6917943|PMID:9334205|PMID:9873004 8711305 Ryr1 ryanodine receptor 1 gene DOID:1909 melanoma ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma PMID:28492532 8711305 Ryr1 ryanodine receptor 1 gene DOID:1924 hypogonadism ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hypogonadism PMID:11873057|PMID:21118704|PMID:23558838|PMID:25741868|PMID:25958340|PMID:28492532 8711305 Ryr1 ryanodine receptor 1 gene DOID:2030 anxiety disorder ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Anxiety PMID:12208234|PMID:12411788|PMID:16163667|PMID:16917943|PMID:19825159|PMID:20681998|PMID:21118704|PMID:23558838|PMID:25637381|PMID:25741868|PMID:25957634|PMID:25960145|PMID:28492532|PMID:28687594|PMID:29169929|PMID:30236257|PMID:30788618|PMID:34008892|PMID:34904211|PMID:35697689|PMID:37787745|PMID:41153347 8711305 Ryr1 ryanodine receptor 1 gene DOID:2121 ectodermal dysplasia ISO RGD:1316413 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Hypohidrotic Ectodermal Dysplasia, Dominant PMID:25741868 8711305 Ryr1 ryanodine receptor 1 gene DOID:219 colon cancer ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon cancer PMID:25741868|PMID:26467025|PMID:28492532|PMID:30236257 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:255 hemangioma ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hemangioma PMID:23558838|PMID:28492532 8711305 Ryr1 ryanodine receptor 1 gene DOID:2841 asthma ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Asthma PMID:25741868|PMID:28492532|PMID:35697689 8711305 Ryr1 ryanodine receptor 1 gene DOID:2843 long QT syndrome ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:26994242|PMID:28003660|PMID:28492532 8711305 Ryr1 ryanodine receptor 1 gene DOID:3081 cystic lymphangioma ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cystic hygroma PMID:25741868|PMID:28492532 8711305 Ryr1 ryanodine receptor 1 gene DOID:3087 gingivitis ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gingivitis PMID:12208234|PMID:12411788|PMID:16163667|PMID:16917943|PMID:19825159|PMID:20681998|PMID:21118704|PMID:23558838|PMID:25637381|PMID:25741868|PMID:25957634|PMID:28492532|PMID:28687594|PMID:29169929|PMID:30236257|PMID:34008892|PMID:34904211|PMID:37787745|PMID:41153347 8711305 Ryr1 ryanodine receptor 1 gene DOID:3275 thymoma ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8711305 Ryr1 ryanodine receptor 1 gene DOID:3312 bipolar disorder ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Bipolar affective disorder PMID:12208234|PMID:12411788|PMID:16163667|PMID:16917943|PMID:19825159|PMID:20681998|PMID:21118704|PMID:23558838|PMID:25637381|PMID:25741868|PMID:25957634|PMID:28492532|PMID:28687594|PMID:29169929|PMID:30236257|PMID:34008892|PMID:34904211|PMID:35697689|PMID:37787745|PMID:41153347 8711305 Ryr1 ryanodine receptor 1 gene DOID:3488 cellulitis ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cellulitis PMID:25741868|PMID:28492532 8711305 Ryr1 ryanodine receptor 1 gene DOID:3529 congenital myopathy 1A ISO RGD:1316413 D RGD:7240710 20260701 OMIM 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 20260616 ClinVar ClinVar Annotator: match by term: CENTRAL CORE DISEASE, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: CONGENITAL MYOPATHY 1A, AUTOSOMAL DOMINANT, WITH SUSCEPTIBILITY TO MALIGNANT HYPERTHERMIA | ClinVar Annotator: match by term: Central Core Disease | ClinVar Annotator: match by term: Central core disease | ClinVar Annotator: match by term: Central core disease, autosomal recessive | ClinVar Annotator: match by term: Central core myopathy PMID:10051009|PMID:10484775|PMID:10612851|PMID:1069529|PMID:10700782|PMID:10793526|PMID:10823104|PMID:11063719|PMID:11113224|PMID:11524458|PMID:11575529|PMID:11668625|PMID:11673462|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12123492|PMID:12124989|PMID:12151923|PMID:12208234|PMID:12411786|PMID:12411788|PMID:12434264|PMID:12467748|PMID:12486242|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12668474|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12937085|PMID:14670767|PMID:14708096|PMID:14732627|PMID:14985404|PMID:15175001|PMID:15210166|PMID:15281512|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16372898|PMID:16380615|PMID:16621918|PMID:16732084|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081125|PMID:17081152|PMID:17204054|PMID:17204937|PMID:17226826|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667681|PMID:17710899|PMID:18063506|PMID:18171678|PMID:18193641|PMID:18253926|PMID:18312400|PMID:18414213|PMID:18502356|PMID:18564801|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20301565|PMID:20439600|PMID:20461000|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21455645|PMID:21674524|PMID:21795085|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:21989361|PMID:22415532|PMID:22473935|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:24361844|PMID:24433488|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25466363|PMID:25476234|PMID:25521991|PMID:25525159|PMID:25614869|PMID:25635128|PMID:25637381|PMID:25642631|PMID:25658027|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26631338|PMID:26633545|PMID:26684984|PMID:26799446|PMID:26951757|PMID:26994242|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27234031|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27447704|PMID:27545679|PMID:27558158|PMID:27586648|PMID:27616680|PMID:27646467|PMID:27831900|PMID:27854218|PMID:27855725|PMID:27857962|PMID:27858745|PMID:28063098|PMID:28259615|PMID:28269792|PMID:28325813|PMID:28326467|PMID:28357410|PMID:28403410|PMID:2842332|PMID:28424332|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28686619|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29556213|PMID:29576327|PMID:29629541|PMID:29635721|PMID:29701772|PMID:29792937|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30872186|PMID:30932294|PMID:31055738|PMID:31107960|PMID:31127727|PMID:31165076|PMID:31191425|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:31994743|PMID:32054689|PMID:32140910|PMID:32236737|PMID:32304219|PMID:32371413|PMID:32381727|PMID:32403337|PMID:32528171|PMID:32861507|PMID:32969603|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33646171|PMID:33726816|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34262519|PMID:34316023|PMID:34411415|PMID:34428338|PMID:34440373|PMID:34528764|PMID:34539730 8711305 Ryr1 ryanodine receptor 1 gene DOID:3529 congenital myopathy 1A ISO RGD:1316413 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: CENTRAL CORE DISEASE, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: CONGENITAL MYOPATHY 1A, AUTOSOMAL DOMINANT, WITH SUSCEPTIBILITY TO MALIGNANT HYPERTHERMIA | ClinVar Annotator: match by term: Central Core Disease | ClinVar Annotator: match by term: Central core disease | ClinVar Annotator: match by term: Central core disease, autosomal recessive | ClinVar Annotator: match by term: Central core myopathy PMID:34595679|PMID:34645488|PMID:34904211|PMID:35081925|PMID:35361824|PMID:35428369|PMID:35549722|PMID:35599849|PMID:35627144|PMID:35628876|PMID:35693006|PMID:35697689|PMID:35718563|PMID:35948506|PMID:36208971|PMID:36283893|PMID:36628841|PMID:36833224|PMID:37510298|PMID:37541188|PMID:37670077|PMID:37787745|PMID:37937776|PMID:38002952|PMID:38162159|PMID:38544359|PMID:38758368|PMID:38982518|PMID:39891418|PMID:39911440|PMID:39966651|PMID:41153347|PMID:4149045|PMID:7849712|PMID:7881417|PMID:8010475|PMID:8220423|PMID:8592342|PMID:8661021|PMID:9030597|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9450902|PMID:9497245|PMID:9536098|PMID:9873004 8711305 Ryr1 ryanodine receptor 1 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma 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 20250408 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: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:422 congenital structural myopathy ISO RGD:1316413 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy PMID:10051009|PMID:10484775|PMID:11524458|PMID:11575529|PMID:11668625|PMID:11741831|PMID:12059893|PMID:12123492|PMID:12208234|PMID:12486242|PMID:12642598|PMID:12700608|PMID:14732627|PMID:15210166|PMID:15448513|PMID:15731587|PMID:16163667|PMID:16199547|PMID:16372898|PMID:16732084|PMID:16835904|PMID:16917943|PMID:16958617|PMID:17033962|PMID:1743490|PMID:17483490|PMID:17576681|PMID:18063506|PMID:18193641|PMID:18253926|PMID:18414213|PMID:18564801|PMID:18813041|PMID:19191329|PMID:19191333|PMID:19346234|PMID:19648156|PMID:19807743|PMID:20080402|PMID:20301325|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21455645|PMID:21674524|PMID:21795085|PMID:21878807|PMID:21911697|PMID:21918424|PMID:22415532|PMID:22473935|PMID:22851008|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23204524|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24361844|PMID:24433488|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25214167|PMID:25256590|PMID:25476234|PMID:25525159|PMID:25637381|PMID:25658027|PMID:2567381|PMID:25735680|PMID:25741868|PMID:25957634|PMID:25958340|PMID:25960145|PMID:26019235|PMID:26068069|PMID:26188342|PMID:26332594|PMID:26467025|PMID:26578207|PMID:26633545|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:27854218|PMID:27855725|PMID:27857962|PMID:28259615|PMID:28403410|PMID:28492532|PMID:28686619|PMID:28687594|PMID:28818389|PMID:29172004|PMID:29298851|PMID:29344738|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:30872186|PMID:30932294|PMID:31055738|PMID:31107960|PMID:31127727|PMID:31165076|PMID:31206373|PMID:31301762|PMID:31304636|PMID:31407473|PMID:31517061|PMID:31559918|PMID:31680123|PMID:31680349|PMID:31994743|PMID:32008650|PMID:32054689|PMID:32236737|PMID:32304219|PMID:32403337|PMID:32528171|PMID:32969603|PMID:32978841|PMID:33190635|PMID:33333461|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33646171|PMID:33726816|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34316023|PMID:34411415|PMID:34428338|PMID:34440373|PMID:34463354|PMID:34627702|PMID:34645488|PMID:35081925|PMID:35428369|PMID:35548885|PMID:35549722|PMID:35599849|PMID:35627144|PMID:35697689|PMID:35718563|PMID:35948506|PMID:36208971|PMID:36516687|PMID:36628841|PMID:36833224|PMID:36939041|PMID:37510298|PMID:37541188|PMID:37670077|PMID:37937776|PMID:38127101|PMID:39891418|PMID:39966651|PMID:41153347|PMID:8220423|PMID:8592342|PMID:9334205|PMID:9450902|PMID:9497245|PMID:9536098|PMID:9873004 8711305 Ryr1 ryanodine receptor 1 gene DOID:423 myopathy ISO RGD:1316413 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Myopathy | ClinVar Annotator: match by term: Skeletal myopathy PMID:10051009|PMID:10484775|PMID:10700782|PMID:10793526|PMID:11575529|PMID:11668625|PMID:12059893|PMID:12123492|PMID:12124989|PMID:12151923|PMID:12208234|PMID:12411786|PMID:12467748|PMID:12565913|PMID:1256913|PMID:14670767|PMID:15210166|PMID:15281512|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16732128|PMID:16835904|PMID:16917943|PMID:17081125|PMID:17081152|PMID:17667681|PMID:18414213|PMID:18502356|PMID:18564801|PMID:18945287|PMID:19648156|PMID:20301565|PMID:20681998|PMID:20839240|PMID:21118704|PMID:21455645|PMID:21674524|PMID:21965348|PMID:22473935|PMID:22992668|PMID:23183335|PMID:23394784|PMID:23460944|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23842196|PMID:23919265|PMID:24195946|PMID:24361844|PMID:24433488|PMID:24950660|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25637381|PMID:25658027|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25958340|PMID:25960145|PMID:26019235|PMID:26332594|PMID:26467025|PMID:26994242|PMID:27159402|PMID:27382027|PMID:27431030|PMID:27447704|PMID:27586648|PMID:27646467|PMID:27831900|PMID:27855725|PMID:28063098|PMID:28259615|PMID:28325813|PMID:28326467|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28687594|PMID:28818389|PMID:29172004|PMID:29576327|PMID:29635721|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30611313|PMID:30788618|PMID:30842289|PMID:30932294|PMID:31206373|PMID:31321302|PMID:31395954|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31589614|PMID:32236737|PMID:32381727|PMID:32403337|PMID:32528171|PMID:33726816|PMID:33767344|PMID:34008892|PMID:34625927|PMID:35428369|PMID:35948506|PMID:36307859|PMID:36628841|PMID:37937776|PMID:7849712|PMID:7881417|PMID:8661021|PMID:9030597|PMID:9334205|PMID:9873004 8711305 Ryr1 ryanodine receptor 1 gene DOID:4362 cervical cancer ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8711305 Ryr1 ryanodine receptor 1 gene DOID:440 neuromuscular disease ISO RGD:1316413 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Neuromuscular disorder PMID:12486242|PMID:17033962|PMID:18253926|PMID:18414213|PMID:20080402|PMID:20301325|PMID:20839240|PMID:21062345|PMID:21455645|PMID:21911697|PMID:22473935|PMID:23394784|PMID:23553484|PMID:23553787|PMID:23919265|PMID:24033266|PMID:24088041|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:26188342|PMID:26332594|PMID:26467025|PMID:26578207|PMID:26633545|PMID:27382027|PMID:27452334|PMID:27854218|PMID:28492532|PMID:28687594|PMID:28818389|PMID:29298851|PMID:29635721|PMID:30406384|PMID:30609409|PMID:30611313|PMID:30652412|PMID:30872186|PMID:30932294|PMID:31407473|PMID:31680123|PMID:31680349|PMID:32008650|PMID:32403337|PMID:32978841|PMID:33190635|PMID:33333461|PMID:34428338|PMID:34463354|PMID:34627702|PMID:35548885|PMID:35627144|PMID:36516687|PMID:36833224|PMID:36939041|PMID:38127101|PMID:39891418|PMID:39966651|PMID:41153347 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:540 strabismus ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Strabismus PMID:15731587|PMID:16835904|PMID:19191333|PMID:21455645|PMID:25741868|PMID:28492532|PMID:30236257|PMID:31517061|PMID:36833224 8711305 Ryr1 ryanodine receptor 1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 8711305 Ryr1 ryanodine receptor 1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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:6171 uterine carcinosarcoma ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8711305 Ryr1 ryanodine receptor 1 gene DOID:630 genetic disease ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10051009|PMID:10352931|PMID:10484775|PMID:10700782|PMID:10756965|PMID:10793526|PMID:11448278|PMID:11493496|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:12059893|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:1510267|PMID:15281512|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16244001|PMID:16272262|PMID:16372898|PMID:1639409|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:17081125|PMID:17081152|PMID:17226826|PMID:17483490|PMID:17667581|PMID:17667681|PMID:17710899|PMID:1774073|PMID:1774074|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18505122|PMID:18564801|PMID:18945287|PMID:19191329|PMID:19191333|PMID:19346234|PMID:19648156|PMID:19807743|PMID:19825159|PMID:19919814|PMID:20681998|PMID:20839240|PMID:21062345|PMID:21118704|PMID:21455645|PMID:21514828|PMID:21795085|PMID:21965348|PMID:22473935|PMID:22550088|PMID:22696611|PMID:22992668|PMID:23183335|PMID:23329375|PMID:23460944|PMID:23476141|PMID:23553484|PMID:23558838|PMID:23628358|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24195946|PMID:24433488|PMID:25214167|PMID:25268394|PMID:25331388|PMID:25525159|PMID:25558065|PMID:25628744|PMID:25637381|PMID:25658027|PMID:25735680|PMID:25741868|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25989378|PMID:26115329|PMID:26467025|PMID:26951757|PMID:26994242|PMID:27382027|PMID:27431030|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27855725|PMID:28063098|PMID:28326467|PMID:28403410|PMID:28492532|PMID:28527222|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29382405|PMID:29635721|PMID:29669168|PMID:30155738|PMID:30232666|PMID:30236257|PMID:30236258|PMID:30406384|PMID:30611313|PMID:30788618|PMID:31016048|PMID:31130284|PMID:31206373|PMID:31301762|PMID:31321302|PMID:31447099|PMID:31559918|PMID:31589614|PMID:32054689|PMID:32236737|PMID:32403337|PMID:32528171|PMID:32665702|PMID:33333461|PMID:33458582|PMID:33646171|PMID:34008892|PMID:34904211|PMID:35081925|PMID:35627144|PMID:35628876|PMID:35693006|PMID:36833224|PMID:37510298|PMID:37541188|PMID:37787745|PMID:38968056|PMID:41153347|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:9334205|PMID:9389851|PMID:9497245|PMID:9520251|PMID:9873004 8711305 Ryr1 ryanodine receptor 1 gene DOID:630 genetic disease ISO RGD:1316413 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases PMID:10051009|PMID:10352931|PMID:10484775|PMID:10700782|PMID:10756965|PMID:10793526|PMID:11448278|PMID:11493496|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:12059893|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:1510267|PMID:15281512|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16244001|PMID:16372898|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:17081125|PMID:17081152|PMID:17226826|PMID:17483490|PMID:17667581|PMID:17667681|PMID:17710899|PMID:1774073|PMID:1774074|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18505122|PMID:18564801|PMID:18945287|PMID:19191329|PMID:19191333|PMID:19346234|PMID:19648156|PMID:19807743|PMID:19825159|PMID:19919814|PMID:20681998|PMID:20839240|PMID:21062345|PMID:21118704|PMID:21455645|PMID:21795085|PMID:21965348|PMID:22473935|PMID:22550088|PMID:22696611|PMID:22992668|PMID:23183335|PMID:23329375|PMID:23460944|PMID:23476141|PMID:23553484|PMID:23558838|PMID:23628358|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24195946|PMID:24433488|PMID:25214167|PMID:25268394|PMID:25331388|PMID:25525159|PMID:25558065|PMID:25628744|PMID:25637381|PMID:25658027|PMID:25735680|PMID:25741868|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25989378|PMID:26115329|PMID:26467025|PMID:26951757|PMID:26994242|PMID:27382027|PMID:27431030|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27855725|PMID:28063098|PMID:28326467|PMID:28403410|PMID:28492532|PMID:28527222|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29382405|PMID:29635721|PMID:29669168|PMID:30155738|PMID:30232666|PMID:30236257|PMID:30236258|PMID:30406384|PMID:30611313|PMID:30788618|PMID:31016048|PMID:31130284|PMID:31206373|PMID:31301762|PMID:31321302|PMID:31447099|PMID:31559918|PMID:31589614|PMID:32054689|PMID:32236737|PMID:32403337|PMID:32528171|PMID:32665702|PMID:33333461|PMID:33458582|PMID:33646171|PMID:34008892|PMID:34904211|PMID:35081925|PMID:35627144|PMID:35628876|PMID:35693006|PMID:36833224|PMID:37510298|PMID:37541188|PMID:37787745|PMID:38968056|PMID:41153347|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7849712|PMID:7881417|PMID:8602662|PMID:8661021|PMID:9030597|PMID:9334205|PMID:9389851|PMID:9497245|PMID:9520251|PMID:9873004 8711305 Ryr1 ryanodine receptor 1 gene DOID:630 genetic disease ISO RGD:1316413 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10051009|PMID:10484775|PMID:10700782|PMID:10793526|PMID:11575529|PMID:11668625|PMID:12059893|PMID:12124989|PMID:12151923|PMID:12208234|PMID:12411786|PMID:12411788|PMID:15281512|PMID:15448513|PMID:15731587|PMID:16163667|PMID:16732128|PMID:16835904|PMID:16917943|PMID:17081125|PMID:17081152|PMID:17667681|PMID:17710899|PMID:18193641|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18564801|PMID:18945287|PMID:19191329|PMID:19648156|PMID:19807743|PMID:19825159|PMID:20566647|PMID:20681998|PMID:20839240|PMID:21062345|PMID:21118704|PMID:21455645|PMID:21965348|PMID:22992668|PMID:23460944|PMID:23476141|PMID:23553484|PMID:23558838|PMID:23628358|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24195946|PMID:24433488|PMID:25268394|PMID:25525159|PMID:25637381|PMID:25658027|PMID:25735680|PMID:25741868|PMID:25957634|PMID:25960145|PMID:26332594|PMID:26467025|PMID:26994242|PMID:27382027|PMID:27431030|PMID:27586648|PMID:27646467|PMID:27831900|PMID:27855725|PMID:28063098|PMID:28326467|PMID:28492532|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29635721|PMID:30232666|PMID:30236257|PMID:30236258|PMID:30611313|PMID:30788618|PMID:31206373|PMID:31301762|PMID:31321302|PMID:31447099|PMID:31559918|PMID:31589614|PMID:32054689|PMID:32236737|PMID:32403337|PMID:33333461|PMID:33458582|PMID:34008892|PMID:34904211|PMID:35081925|PMID:35627144|PMID:35628876|PMID:35693006|PMID:36833224|PMID:37510298|PMID:37541188|PMID:37787745|PMID:37937776|PMID:41153347|PMID:7849712|PMID:7881417|PMID:8661021|PMID:9030597|PMID:9334205|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:7148 rheumatoid arthritis ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Rheumatoid arthritis PMID:25741868|PMID:28492532|PMID:35697689 8711305 Ryr1 ryanodine receptor 1 gene DOID:767 muscular atrophy ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Muscular atrophy PMID:25658027|PMID:25741868|PMID:28492532|PMID:30236257 8711305 Ryr1 ryanodine receptor 1 gene DOID:7998 hyperthyroidism ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hyperthyroidism PMID:25741868|PMID:25960145|PMID:28492532|PMID:30788618 8711305 Ryr1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:7240710 20260701 OMIM 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 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 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 ISO RGD:1316413 D RGD:8554872 20250408 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:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12668474|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:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|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:18253926|PMID:18306019|PMID:1836259|PMID:18414213|PMID:18502356|PMID:18505122|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:19890226|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|PMID:27153395|PMID:27159402|PMID:27234031 8711305 Ryr1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20250408 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: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:32153140|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:37364426|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 ISO RGD:1316413 D RGD:8554872 20250506 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: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:27900193|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:32153140|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:37364426|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 ISO RGD:1316413 D RGD:8554872 20250701 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: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:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12668474|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:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|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:18171678|PMID:18193641|PMID:18212565|PMID:18253926|PMID:18306019|PMID:1836259|PMID:18414213|PMID:18502356|PMID:18505122|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:19890226|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20301565|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: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|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 20250708 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: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:27900193|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:32153140|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:37364426|PMID:37432431|PMID:37510298|PMID:37510394|PMID:37541188|PMID:37643885|PMID:37712079|PMID:37787745|PMID:37838930|PMID:37873543|PMID:37937776|PMID:37996280|PMID:38127101|PMID:38162159|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 ISO RGD:1316413 D RGD:8554872 20250722 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: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:12668474|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:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|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:18171678|PMID:18193641|PMID:18212565|PMID:18253926|PMID:18306019|PMID:1836259|PMID:18414213|PMID:18502356|PMID:18505122|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:19890226|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20301565|PMID:20439600|PMID:20461000|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|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:22734812|PMID:22851008|PMID:22992668|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|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: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|PMID:27234031|PMID:27353517|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27447704|PMID:27452334|PMID:27545679|PMID:27558158|PMID:27586648|PMID:27616680 8711305 Ryr1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20250722 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:27646467|PMID:27663056|PMID:27708273|PMID:27831900|PMID:27854218|PMID:27855725|PMID:27857962|PMID:27858745|PMID:27900193|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:32153140|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: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:37364426|PMID:37432431|PMID:37510298|PMID:37510394|PMID:37541188|PMID:37643885|PMID:37712079|PMID:37787745|PMID:37838930|PMID:37873543|PMID:37937776|PMID:37996280|PMID:38127101|PMID:38162159|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 ISO RGD:1316413 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Malignant Hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia | 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 | ClinVar Annotator: match by term: malignant hyperthermia susceptibility PMID:10051009|PMID:10352931|PMID:10484775|PMID:10612851|PMID:1069529|PMID:10700782|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11113224|PMID:11274444|PMID:11493496|PMID:11524458|PMID:11575529|PMID:11668625|PMID:11673462|PMID:11709545|PMID:11741831|PMID:11873057|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12112081|PMID:12123492|PMID:12124989|PMID:12151923|PMID:12161072|PMID:12208234|PMID:12220451|PMID:12411786|PMID:12411788|PMID:12434264|PMID:12467748|PMID:12486242|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12668474|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12883402|PMID:1354642|PMID:14641996|PMID:14670767|PMID:14732627|PMID:14985404|PMID:15210166|PMID:15281512|PMID:15299003|PMID:15347586|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16284304|PMID:16372898|PMID:16621918|PMID:16732084|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16958617|PMID:17033962|PMID:17081125|PMID:17081152|PMID:17204054|PMID:17204937|PMID:17226826|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667681|PMID:17710899|PMID:1774074|PMID:18063506|PMID:18193641|PMID:18212565|PMID:18253926|PMID:18306019|PMID:18312400|PMID:18414213|PMID:18502356|PMID:18505122|PMID:18564801|PMID:18719443|PMID:18813041|PMID:18945287|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19454545|PMID:19541610|PMID:19648156|PMID:19658156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19890226|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301565|PMID:20439600|PMID:20461000|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21282829|PMID:21455645|PMID:21674524|PMID:21795085|PMID:21804810|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:21989361|PMID:22407809|PMID:22415532|PMID:22473935|PMID:22696611|PMID:22851008|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23183335|PMID:23204524|PMID:23329375|PMID:23394784|PMID:23422674|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24013571|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24361844|PMID:24433488|PMID:24627108|PMID:24706162|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326637|PMID:25428687|PMID:25466363|PMID:25476234|PMID:25525159|PMID:25558065|PMID:25614869|PMID:25635128|PMID:25637381|PMID:25642631|PMID:25658027|PMID:2567381|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:26119398|PMID:26188342|PMID:26275793|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26631338|PMID:26633545|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|PMID:27431030|PMID:27447704|PMID:27452334|PMID:27545679|PMID:27558158|PMID:27586648|PMID:27616680|PMID:27646467|PMID:27831900|PMID:27854218|PMID:27855725|PMID:27857962|PMID:27858745|PMID:28063098|PMID:28078069|PMID:28087426|PMID:28259615|PMID:28269792|PMID:28325813|PMID:28326467|PMID:28357410|PMID:28403410|PMID:2842332|PMID:28424332|PMID:28492532|PMID:28496993|PMID:28584051|PMID:28686619|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29261186|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29556213|PMID:29576327|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30115273|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30652412|PMID:30724636|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30872186|PMID:30916033|PMID:30932294|PMID:31055738|PMID:31068157|PMID:31107960|PMID:31127727|PMID:31165076 8711305 Ryr1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Malignant Hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia | 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 | ClinVar Annotator: match by term: malignant hyperthermia susceptibility 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:31841587|PMID:31903994|PMID:31994743|PMID:32008650|PMID:32054689|PMID:32153140|PMID:32236737|PMID:32304219|PMID:32337335|PMID:32371413|PMID:32381727|PMID:32403337|PMID:32528171|PMID:32573669|PMID:32600061|PMID:32919876|PMID:32969603|PMID:32978841|PMID:33060286|PMID:33190635|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33646171|PMID:33726816|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34127251|PMID:34316023|PMID:34411415|PMID:34428338|PMID:34440373|PMID:34463354|PMID:34528764|PMID:34625927|PMID:34627702|PMID:34645488|PMID:34904211|PMID:35081925|PMID:35175440|PMID:35178478|PMID:35304488|PMID:35361824|PMID:35387801|PMID:35428369|PMID:35548885|PMID:35549722|PMID:35599849|PMID:35627144|PMID:35628876|PMID:35693006|PMID:35697689|PMID:35718563|PMID:35849058|PMID:35948506|PMID:36100962|PMID:36208971|PMID:36280855|PMID:36283893|PMID:36307859|PMID:36516687|PMID:36628841|PMID:36751502|PMID:36833224|PMID:36939041|PMID:36964972|PMID:37154182|PMID:37510298|PMID:37541188|PMID:37670077|PMID:37781817|PMID:37787745|PMID:37937776|PMID:38002952|PMID:38127101|PMID:38162159|PMID:38542460|PMID:38544359|PMID:38758368|PMID:38982518|PMID:39891418|PMID:39911440|PMID:39966651|PMID:41153347|PMID:6917943|PMID:7829078|PMID:7849712|PMID:7881417|PMID:8010475|PMID:8220422|PMID:8220423|PMID:8592342|PMID:8602662|PMID:8661021|PMID:9030597|PMID:9066328|PMID:9138151|PMID:9334205|PMID:9450902|PMID:9497245|PMID:9536098|PMID:9873004 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: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:9000064 Cardiac Arrhythmias ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868|PMID:26467025|PMID:28492532|PMID:30236257 8711305 Ryr1 ryanodine receptor 1 gene DOID:9000123 Deglutition Disorders ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Dysphagia PMID:25741868|PMID:28492532 8711305 Ryr1 ryanodine receptor 1 gene DOID:9000197 Edema ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Edema PMID:20839240|PMID:25741868|PMID:28492532|PMID:32403337|PMID:33333461|PMID:33458582 8711305 Ryr1 ryanodine receptor 1 gene DOID:9000343 Vision Disorders ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Visual impairment PMID:25741868|PMID:28492532|PMID:30236257 8711305 Ryr1 ryanodine receptor 1 gene DOID:9000641 Pain ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Pain PMID:16835904|PMID:24013571 8711305 Ryr1 ryanodine receptor 1 gene DOID:9000781 Cyanosis ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cyanosis PMID:18414213|PMID:18564801|PMID:20681998|PMID:21674524|PMID:22473935|PMID:23394784|PMID:23558838|PMID:23919265|PMID:24195946|PMID:24950660|PMID:25214167|PMID:25637381|PMID:25658027|PMID:25735680|PMID:25741868|PMID:25958340|PMID:25960145|PMID:26019235|PMID:26332594|PMID:26467025|PMID:28259615|PMID:28492532|PMID:30611313|PMID:30932294|PMID:31206373|PMID:31517061|PMID:32236737|PMID:32403337|PMID:32528171|PMID:33726816|PMID:33767344|PMID:34008892|PMID:35428369|PMID:35948506|PMID:36628841|PMID:37937776 8711305 Ryr1 ryanodine receptor 1 gene DOID:9000808 Hypercholesterolemia ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia PMID:25741868|PMID:28492532|PMID:35697689 8711305 Ryr1 ryanodine receptor 1 gene DOID:9000884 Rhabdomyolysis ISO RGD:1316413 D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Rhabdomyolysis PMID:28779239 8711305 Ryr1 ryanodine receptor 1 gene DOID:9001276 Failure to Thrive ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:12208234|PMID:12411788|PMID:16163667|PMID:16917943|PMID:19825159|PMID:20681998|PMID:21118704|PMID:23558838|PMID:25637381|PMID:25741868|PMID:25957634|PMID:28492532|PMID:28687594|PMID:29169929|PMID:30236257|PMID:34008892|PMID:34904211|PMID:37787745|PMID:41153347 8711305 Ryr1 ryanodine receptor 1 gene DOID:9001722 Dysarthria ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Dysarthria PMID:25741868 8711305 Ryr1 ryanodine receptor 1 gene DOID:9001733 Tinnitus ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Tinnitus PMID:25741868|PMID:26467025|PMID:28492532|PMID:30236257 8711305 Ryr1 ryanodine receptor 1 gene DOID:9001981 Weight Loss ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Weight loss PMID:25741868|PMID:28492532 8711305 Ryr1 ryanodine receptor 1 gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Corpus callosum, agenesis of PMID:25658027|PMID:25741868|PMID:28492532|PMID:30236257 8711305 Ryr1 ryanodine receptor 1 gene DOID:9002119 Malignant Hypothermia ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant hypothermia PMID:14732627|PMID:16163667|PMID:16732084|PMID:16917943|PMID:18253926|PMID:18414213|PMID:19191329|PMID:20839240|PMID:20981092|PMID:21455645|PMID:22913516|PMID:22995991|PMID:23204524|PMID:23329375|PMID:23558838|PMID:24195946|PMID:25735680|PMID:25741868|PMID:25957634|PMID:26467025|PMID:27153395|PMID:28492532|PMID:30611313|PMID:30724636|PMID:33333461 8711305 Ryr1 ryanodine receptor 1 gene DOID:9002182 Cafe au lait Spots, Multiple ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cafe au lait spots, multiple PMID:25741868|PMID:25960145|PMID:28492532|PMID:30788618 8711305 Ryr1 ryanodine receptor 1 gene DOID:9002775 Cognitive Dysfunction ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cognitive impairment PMID:22473935|PMID:25741868|PMID:25960145|PMID:27234031|PMID:28492532|PMID:28818389 8711305 Ryr1 ryanodine receptor 1 gene DOID:9002997 Glossoptosis ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Glossoptosis PMID:23919265|PMID:25741868 8711305 Ryr1 ryanodine receptor 1 gene DOID:9003145 Nuchal Bleb, Familial ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Fetal cystic hygroma PMID:25741868|PMID:28492532 8711305 Ryr1 ryanodine receptor 1 gene DOID:9003242 Paresthesia ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Paresthesia PMID:20583297|PMID:20839240|PMID:23919265|PMID:25741868|PMID:28492532|PMID:28818389 8711305 Ryr1 ryanodine receptor 1 gene DOID:9003507 Premature Birth ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Premature birth PMID:25741868|PMID:28492532|PMID:35697689 8711305 Ryr1 ryanodine receptor 1 gene DOID:9003539 Hyperacusis ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hyperacusis PMID:25741868|PMID:28492532 8711305 Ryr1 ryanodine receptor 1 gene DOID:9003760 Myalgia ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Myalgia PMID:24195946|PMID:25741868|PMID:28492532 8711305 Ryr1 ryanodine receptor 1 gene DOID:9003816 Macrocephaly ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Macrocephaly PMID:23919265|PMID:25960145|PMID:28492532|PMID:28818389|PMID:30611313 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:9004538 Hearing Loss ISO RGD:1316413 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:18813041|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: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 20260519 ClinVar ClinVar Annotator: match by term: Axial myopathy, late-onset PMID:23329375|PMID:25741868|PMID:28492532 8711305 Ryr1 ryanodine receptor 1 gene DOID:9004866 Ataxia ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ataxia PMID:25741868|PMID:28492532|PMID:30236257 8711305 Ryr1 ryanodine receptor 1 gene DOID:9005219 Abnormal Reflexes ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hyporeflexia PMID:25741868|PMID:28492532|PMID:30236257 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 20260616 ClinVar ClinVar Annotator: match by term: Fulminating hyperpyrexia | ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:10051009|PMID:10352931|PMID:10484775|PMID:10612851|PMID:1069529|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11493496|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:11873057|PMID:11928716|PMID:12059893|PMID:12123492|PMID:12208234|PMID:12411786|PMID:12411788|PMID:12467748|PMID:12486242|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12668474|PMID:12709367|PMID:12883402|PMID:1354642|PMID:14641996|PMID:14670767|PMID:14732627|PMID:15210166|PMID:15299003|PMID:15347586|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16372898|PMID:16621918|PMID:16732084|PMID:16835904|PMID:16917943|PMID:17033962|PMID:17081152|PMID:17204054|PMID:17204937|PMID:17226826|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17710899|PMID:1774074|PMID:18063506|PMID:18193641|PMID:18212565|PMID:18253926|PMID:18306019|PMID:18414213|PMID:18564801|PMID:18719443|PMID:18813041|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19454545|PMID:19541610|PMID:19648156|PMID:19658156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19890226|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301565|PMID:20461000|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21282829|PMID:21455645|PMID:21674524|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22407809|PMID:22473935|PMID:22851008|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23183335|PMID:23204524|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23919265|PMID:24013571|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24361844|PMID:24433488|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25214167|PMID:25256590|PMID:25326637|PMID:25466363|PMID:25476234|PMID:25525159|PMID:25635128|PMID:25637381|PMID:25642631|PMID:25658027|PMID:2567381|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26188342|PMID:26275793|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26578207|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:27452334|PMID:27545679|PMID:27558158|PMID:27586648|PMID:27616680|PMID:27854218|PMID:27855725|PMID:27857962|PMID:28078069|PMID:28087426|PMID:28259615|PMID:28269792|PMID:28325813|PMID:28403410|PMID:2842332|PMID:28424332|PMID:28492532|PMID:28686619|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29576327|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:30724636|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30872186|PMID:30932294|PMID:31055738|PMID:31068157|PMID:31107960|PMID:31127727|PMID:31165076|PMID:31206373|PMID:31301762|PMID:31304636|PMID:31321302|PMID:31395954|PMID:31407473|PMID:31517061|PMID:31559918|PMID:31618753|PMID:31680123|PMID:31680349|PMID:31841587|PMID:31903994|PMID:31994743|PMID:32008650|PMID:32054689|PMID:32153140|PMID:32236737|PMID:32304219|PMID:32371413|PMID:32381727|PMID:32403337|PMID:32528171|PMID:32573669|PMID:32600061|PMID:32969603|PMID:32978841|PMID:33060286|PMID:33190635|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33646171|PMID:33726816|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34127251|PMID:34316023|PMID:34411415|PMID:34428338|PMID:34440373|PMID:34463354|PMID:34528764|PMID:34627702|PMID:34645488|PMID:34904211|PMID:35081925|PMID:35304488|PMID:35361824|PMID:35387801|PMID:35428369|PMID:35548885|PMID:35549722|PMID:35599849|PMID:35627144|PMID:35628876|PMID:35693006|PMID:35697689|PMID:35718563 8711305 Ryr1 ryanodine receptor 1 gene DOID:9005320 Malignant Fever ISO RGD:1316413 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Fulminating hyperpyrexia | ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:35948506|PMID:36208971|PMID:36283893|PMID:36516687|PMID:36628841|PMID:36751502|PMID:36833224|PMID:36939041|PMID:36964972|PMID:37154182|PMID:37510298|PMID:37541188|PMID:37670077|PMID:37781817|PMID:37787745|PMID:37937776|PMID:38002952|PMID:38127101|PMID:38162159|PMID:38544359|PMID:38758368|PMID:38982518|PMID:39891418|PMID:39911440|PMID:39966651|PMID:41153347|PMID:6917943|PMID:8220422|PMID:8602662|PMID:9066328|PMID:9138151|PMID:9334205|PMID:9497245|PMID:9536098|PMID:9873004 8711305 Ryr1 ryanodine receptor 1 gene DOID:9005532 Muscle Weakness ISO RGD:1316413 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Muscle weakness | ClinVar Annotator: match by term: Progressive muscle weakness PMID:17033962|PMID:1743490|PMID:17483490|PMID:19191333|PMID:21062345|PMID:22473935|PMID:23919265|PMID:24088041|PMID:25214167|PMID:25741868|PMID:26633545|PMID:28492532|PMID:29172004|PMID:29417091|PMID:30155738|PMID:30611313|PMID:31055738|PMID:31107960|PMID:32236737|PMID:32403337|PMID:32528171|PMID:37670077 8711305 Ryr1 ryanodine receptor 1 gene DOID:9005560 Congenital Hip Dislocation ISO RGD:1316413 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Congenital hip dislocation PMID:18813041|PMID:21878807|PMID:21918424|PMID:22473935|PMID:22851008|PMID:23329375|PMID:23394784|PMID:24055113|PMID:24195946|PMID:24433488|PMID:25637381|PMID:25658027|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 20260519 ClinVar ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia PMID:16199547|PMID:18253926|PMID:18414213|PMID:18564801|PMID:20583297|PMID:20681998|PMID:20839240|PMID:21062345|PMID:21674524|PMID:22473935|PMID:23394784|PMID:23553484|PMID:23558838|PMID:23826317|PMID:23919265|PMID:24195946|PMID:24950660|PMID:25214167|PMID:25525159|PMID:25637381|PMID:25658027|PMID:25735680|PMID:25741868|PMID:25958340|PMID:25960145|PMID:26019235|PMID:26332594|PMID:26467025|PMID:28259615|PMID:28492532|PMID:28818389|PMID:29382405|PMID:30236257|PMID:30611313|PMID:30788618|PMID:30932294|PMID:31206373|PMID:31517061|PMID:32236737|PMID:32403337|PMID:32528171|PMID:33333461|PMID:33458582|PMID:33726816|PMID:33767344|PMID:34008892|PMID:35428369|PMID:35627144|PMID:35948506|PMID:36628841|PMID:37937776 8711305 Ryr1 ryanodine receptor 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:1316413 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Muscular hypotonia PMID:16199547|PMID:18253926|PMID:18414213|PMID:18564801|PMID:20681998|PMID:20839240|PMID:21062345|PMID:21674524|PMID:22473935|PMID:23394784|PMID:23553484|PMID:23558838|PMID:23826317|PMID:23919265|PMID:24195946|PMID:24950660|PMID:25214167|PMID:25525159|PMID:25637381|PMID:25658027|PMID:25735680|PMID:25741868|PMID:25958340|PMID:25960145|PMID:26019235|PMID:26332594|PMID:26467025|PMID:28259615|PMID:28492532|PMID:28818389|PMID:29382405|PMID:30236257|PMID:30611313|PMID:30788618|PMID:30932294|PMID:31206373|PMID:31517061|PMID:32236737|PMID:32403337|PMID:32528171|PMID:33333461|PMID:33458582|PMID:33726816|PMID:33767344|PMID:34008892|PMID:35428369|PMID:35627144|PMID:35948506|PMID:36628841|PMID:37937776 8711305 Ryr1 ryanodine receptor 1 gene DOID:9005616 Micrognathism ISO RGD:1316413 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Micrognathia PMID:20301325|PMID:20839240|PMID:21911697|PMID:22473935|PMID:23394784|PMID:23919265|PMID:25637381|PMID:25658027|PMID:2567381|PMID:25735680|PMID:25741868|PMID:26188342|PMID:26332594|PMID:27382027|PMID:27452334|PMID:28492532|PMID:29298851|PMID:29635721|PMID:30406384|PMID:30652412|PMID:31407473|PMID:31680123|PMID:32008650|PMID:32978841|PMID:33190635|PMID:34463354|PMID:34627702|PMID:35548885|PMID:36516687|PMID:36833224|PMID:36939041|PMID:38127101 8711305 Ryr1 ryanodine receptor 1 gene DOID:9006534 Nervous System Malformations ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:12668474|PMID:25741868|PMID:28492532|PMID:35693006 8711305 Ryr1 ryanodine receptor 1 gene DOID:9006599 Hypertriglyceridemia ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hypertriglyceridemia PMID:28492532 8711305 Ryr1 ryanodine receptor 1 gene DOID:9006635 Hyponatremia ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hyponatremia PMID:16199547|PMID:18253926|PMID:20839240|PMID:21062345|PMID:23553484|PMID:23919265|PMID:25525159|PMID:25741868|PMID:25960145|PMID:28492532|PMID:28818389|PMID:29382405|PMID:30611313|PMID:35627144 8711305 Ryr1 ryanodine receptor 1 gene DOID:9006743 Spasm ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Muscle spasm PMID:20583297|PMID:20839240|PMID:23919265|PMID:25741868|PMID:28492532|PMID:28818389 8711305 Ryr1 ryanodine receptor 1 gene DOID:9006878 Exercise Intolerance ISO RGD:1316413 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Exercise intolerance PMID:25741868|PMID:28492532|PMID:32403337|PMID:32528171 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:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8711305 Ryr1 ryanodine receptor 1 gene DOID:9007001 Bradycardia ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Bradycardia PMID:25741868|PMID:28492532 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 20260616 ClinVar ClinVar Annotator: match by term: Myopathy, progressive axial with cataracts PMID:18813041|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:9007428 Muscle Spasticity ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Spasticity PMID:15731587|PMID:16835904|PMID:19191333|PMID:21455645|PMID:25741868|PMID:28492532|PMID:30236257|PMID:31517061|PMID:36833224 8711305 Ryr1 ryanodine receptor 1 gene DOID:9007661 Dwarfism ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Short stature PMID:12208234|PMID:12411788|PMID:16163667|PMID:16917943|PMID:19825159|PMID:20681998|PMID:21118704|PMID:23558838|PMID:25637381|PMID:25741868|PMID:25957634|PMID:28492532|PMID:28687594|PMID:29169929|PMID:30236257|PMID:34008892|PMID:34904211|PMID:37787745|PMID:41153347 8711305 Ryr1 ryanodine receptor 1 gene DOID:9007736 Vertigo ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Vertigo PMID:25741868|PMID:26467025|PMID:28492532|PMID:30236257 8711305 Ryr1 ryanodine receptor 1 gene DOID:9007956 Febrile Seizures ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Complex febrile seizure PMID:25741868|PMID:28492532 8711305 Ryr1 ryanodine receptor 1 gene DOID:9008003 Mandibulofacial Dysostosis ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Mandibulofacial dysostosis PMID:15731587|PMID:16835904|PMID:19191333|PMID:21455645|PMID:25741868|PMID:28492532|PMID:30236257|PMID:31517061|PMID:36833224 8711305 Ryr1 ryanodine receptor 1 gene DOID:9008023 Memory Disorders ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Memory impairment PMID:11873057|PMID:21118704|PMID:23558838|PMID:25741868|PMID:25958340|PMID:25960145|PMID:28492532|PMID:30788618 8711305 Ryr1 ryanodine receptor 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1316413 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:11575529|PMID:12565913|PMID:1354642|PMID:15448513|PMID:15731587|PMID:16835904|PMID:18564801|PMID:19191333|PMID:19346234|PMID:19648156|PMID:19890226|PMID:19931341|PMID:20461000|PMID:21455645|PMID:23558838|PMID:23919265|PMID:25741868|PMID:27855725|PMID:27857962|PMID:28492532|PMID:30236257|PMID:31517061|PMID:36833224|PMID:6917943|PMID:9334205|PMID:9873004 8711305 Ryr1 ryanodine receptor 1 gene DOID:9008386 Hydrops Fetalis ISO RGD:1316413 D RGD:8554872 20260616 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:26578207|PMID:26633545|PMID:27854218|PMID:28492532|PMID:28818389|PMID:30609409|PMID:30611313|PMID:31680349|PMID:33333461 8711305 Ryr1 ryanodine receptor 1 gene DOID:9008830 Vasovagal Syncope ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Vasovagal syncope PMID:25741868|PMID:28492532|PMID:32236737 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:9008952 Breast Cancer, Familial ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8711305 Ryr1 ryanodine receptor 1 gene DOID:9009021 Plagiocephaly ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Plagiocephaly PMID:16199547|PMID:23919265|PMID:25741868|PMID:25960145|PMID:28492532|PMID:28818389|PMID:30611313 8711305 Ryr1 ryanodine receptor 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8711305 Ryr1 ryanodine receptor 1 gene DOID:9277 primary cerebellar degeneration ISO RGD:1316413 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Sensorimotor neuropathy PMID:12059893|PMID:16163667|PMID:21118704|PMID:22992668|PMID:25741868|PMID:28492532|PMID:30236257|PMID:31301762 8711305 Ryr1 ryanodine receptor 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:11873057|PMID:21118704|PMID:23558838|PMID:25741868|PMID:25958340|PMID:28492532|PMID:35697689 8711305 Ryr1 ryanodine receptor 1 gene DOID:936 brain disease ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Encephalopathy PMID:25741868 8711305 Ryr1 ryanodine receptor 1 gene DOID:9406 hypopituitarism ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hypopituitarism PMID:25741868|PMID:28492532 8711305 Ryr1 ryanodine receptor 1 gene DOID:9423 blepharitis ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Blepharitis PMID:25741868|PMID:28492532 8711305 Ryr1 ryanodine receptor 1 gene DOID:9650 pathologic nystagmus ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nystagmus PMID:16199547|PMID:18253926|PMID:20839240|PMID:21062345|PMID:23553484|PMID:23919265|PMID:25525159|PMID:25741868|PMID:25960145|PMID:28492532|PMID:28818389|PMID:29382405|PMID:30611313|PMID:35627144 8711305 Ryr1 ryanodine receptor 1 gene DOID:9834 hyperopia ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hypermetropia PMID:11873057|PMID:12208234|PMID:12411788|PMID:16163667|PMID:16917943|PMID:19825159|PMID:20681998|PMID:21118704|PMID:23558838|PMID:25637381|PMID:25741868|PMID:25957634|PMID:25958340|PMID:26467025|PMID:28492532|PMID:28687594|PMID:29169929|PMID:30236257|PMID:34008892|PMID:34904211|PMID:37787745|PMID:41153347 8711305 Ryr1 ryanodine receptor 1 gene DOID:9840 esotropia ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Esotropia PMID:25741868|PMID:28492532 8711305 Ryr1 ryanodine receptor 1 gene DOID:9884 muscular dystrophy ISO RGD:1316413 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:17033962|PMID:1743490|PMID:17483490|PMID:21062345|PMID:22473935|PMID:23826317|PMID:23919265|PMID:24088041|PMID:25741868|PMID:25960145|PMID:26633545|PMID:28357410|PMID:28492532|PMID:28818389|PMID:29172004|PMID:30155738|PMID:30611313|PMID:31055738|PMID:31107960|PMID:32236737|PMID:32403337|PMID:37670077 8711305 Ryr1 ryanodine receptor 1 gene DOID:9970 obesity ISO RGD:1316413 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Obesity PMID:12208234|PMID:12411788|PMID:16163667|PMID:16917943|PMID:19825159|PMID:20681998|PMID:21118704|PMID:23558838|PMID:25637381|PMID:25741868|PMID:25957634|PMID:28492532|PMID:28687594|PMID:29169929|PMID:30236257|PMID:34008892|PMID:34904211|PMID:37787745|PMID:41153347 8711416 Ppp1r10 protein phosphatase 1 regulatory subunit 10 gene DOID:10534 stomach cancer ISO RGD:732967 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8711416 Ppp1r10 protein phosphatase 1 regulatory subunit 10 gene DOID:1059 intellectual disability ISO RGD:732967 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Intellectual disability, moderate PMID:25741868 8711416 Ppp1r10 protein phosphatase 1 regulatory subunit 10 gene DOID:11054 urinary bladder cancer ISO RGD:732967 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8711416 Ppp1r10 protein phosphatase 1 regulatory subunit 10 gene DOID:1115 sarcoma ISO RGD:732967 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8711416 Ppp1r10 protein phosphatase 1 regulatory subunit 10 gene DOID:1909 melanoma ISO RGD:732967 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8711416 Ppp1r10 protein phosphatase 1 regulatory subunit 10 gene DOID:234 colon adenocarcinoma ISO RGD:732967 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8711416 Ppp1r10 protein phosphatase 1 regulatory subunit 10 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:732967 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 8711416 Ppp1r10 protein phosphatase 1 regulatory subunit 10 gene DOID:4947 cholangiocarcinoma ISO RGD:732967 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 8711416 Ppp1r10 protein phosphatase 1 regulatory subunit 10 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:732967 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 8711416 Ppp1r10 protein phosphatase 1 regulatory subunit 10 gene DOID:5557 testicular germ cell cancer ISO RGD:732967 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Germ cell tumor of testis 8711416 Ppp1r10 protein phosphatase 1 regulatory subunit 10 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:732967 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8711416 Ppp1r10 protein phosphatase 1 regulatory subunit 10 gene DOID:9003654 Testicular Germ Cell Tumor ISO RGD:732967 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Germ cell tumor of testis 8711416 Ppp1r10 protein phosphatase 1 regulatory subunit 10 gene DOID:9005024 Hereditary Adrenocortical Carcinoma ISO RGD:732967 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary 8711416 Ppp1r10 protein phosphatase 1 regulatory subunit 10 gene DOID:9005532 Muscle Weakness ISO RGD:732967 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Muscle weakness PMID:25741868 8711416 Ppp1r10 protein phosphatase 1 regulatory subunit 10 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:732967 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8711416 Ppp1r10 protein phosphatase 1 regulatory subunit 10 gene DOID:9119 acute myeloid leukemia ISO RGD:732967 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8711447 Rab1b RAB1B, member RAS oncogene family gene DOID:10534 stomach cancer ISO RGD:1345480 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8711447 Rab1b RAB1B, member RAS oncogene family gene DOID:1324 lung cancer ISO RGD:1345480 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8711447 Rab1b RAB1B, member RAS oncogene family gene DOID:1909 melanoma ISO RGD:1345480 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8711447 Rab1b RAB1B, member RAS oncogene family gene DOID:4362 cervical cancer ISO RGD:1345480 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8711447 Rab1b RAB1B, member RAS oncogene family gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1345480 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8711447 Rab1b RAB1B, member RAS oncogene family gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1345480 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 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:9008952 Breast Cancer, Familial ISO RGD:1345480 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8711469 Adgrb1 adhesion G protein-coupled receptor B1 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1313737 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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:1059 intellectual disability ISO RGD:1313737 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8711469 Adgrb1 adhesion G protein-coupled receptor B1 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1313737 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Attention deficit hyperactivity disorder PMID:25741868 8711469 Adgrb1 adhesion G protein-coupled receptor B1 gene DOID:1115 sarcoma ISO RGD:1313737 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8711469 Adgrb1 adhesion G protein-coupled receptor B1 gene DOID:11782 astigmatism ISO RGD:1313737 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Astigmatism PMID:25741868 8711469 Adgrb1 adhesion G protein-coupled receptor B1 gene DOID:12849 autistic disorder ISO RGD:1313737 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868 8711469 Adgrb1 adhesion G protein-coupled receptor B1 gene DOID:1909 melanoma ISO RGD:1313737 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8711469 Adgrb1 adhesion G protein-coupled receptor B1 gene DOID:2394 ovarian cancer ISO RGD:1313737 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian cancer 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:4362 cervical cancer ISO RGD:1313737 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 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:5746 ovarian serous cystadenocarcinoma ISO RGD:1313737 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8711469 Adgrb1 adhesion G protein-coupled receptor B1 gene DOID:684 hepatocellular carcinoma ISO RGD:1313737 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 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:9002805 Enterocolitis ISO RGD:1313737 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Enterocolitis PMID:25741868 8711469 Adgrb1 adhesion G protein-coupled receptor B1 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1313737 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8711469 Adgrb1 adhesion G protein-coupled receptor B1 gene DOID:9008086 Developmental Disabilities ISO RGD:1313737 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 8711469 Adgrb1 adhesion G protein-coupled receptor B1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1313737 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 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:0050387 nonpapillary renal cell carcinoma ISO RGD:736267 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 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:1115 sarcoma ISO RGD:736267 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8711509 Syn2 synapsin II gene DOID:11832 visual epilepsy ISO RGD:736267 D RGD:9068941 20260108 CTD CTD Direct Evidence: marker/mechanism PMID:18701217 8711509 Syn2 synapsin II gene DOID:1324 lung cancer ISO RGD:736267 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 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:5746 ovarian serous cystadenocarcinoma ISO RGD:736267 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8711509 Syn2 synapsin II gene DOID:9002211 Hyperalgesia ISO RGD:736267 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18701217 8711509 Syn2 synapsin II gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:736267 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8711525 Kcnab1 potassium voltage-gated channel subfamily A regulatory beta subunit 1 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1607081 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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:1324 lung cancer ISO RGD:1607081 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8711525 Kcnab1 potassium voltage-gated channel subfamily A regulatory beta subunit 1 gene DOID:1909 melanoma ISO RGD:1607081 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8711525 Kcnab1 potassium voltage-gated channel subfamily A regulatory beta subunit 1 gene DOID:3275 thymoma ISO RGD:1607081 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 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:3907 lung squamous cell carcinoma ISO RGD:1607081 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma 8711525 Kcnab1 potassium voltage-gated channel subfamily A regulatory beta subunit 1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1607081 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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 8711525 Kcnab1 potassium voltage-gated channel subfamily A regulatory beta subunit 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1607081 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8711549 Izumo1r IZUMO1 receptor, JUNO gene DOID:1115 sarcoma ISO RGD:2303851 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8711564 Aco2 aconitase 2 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:733187 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 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 20260602 ClinVar ClinVar Annotator: match by term: ACO2-Related Disorders | ClinVar Annotator: match by term: INFANTILE CEREBELLAR-RETINAL DEGENERATION | ClinVar Annotator: match by term: Infantile cerebellar-retinal degeneration PMID:16199547|PMID:17576681|PMID:25741868|PMID:28492532|PMID:30689204|PMID:32214227|PMID:32519519|PMID:34056600|PMID:38703036|PMID:9536098 8711564 Aco2 aconitase 2 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:733187 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma PMID:25741868 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: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 20260519 ClinVar ClinVar Annotator: match by term: ACO2-related condition | ClinVar Annotator: match by term: ACO2-related disorder | ClinVar Annotator: match by term: Optic atrophy 9 PMID:16199547|PMID:25741868|PMID:28492532|PMID:30689204|PMID:32519519|PMID:34056600|PMID:37734845 8711564 Aco2 aconitase 2 gene DOID:10534 stomach cancer ISO RGD:733187 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:25741868 8711564 Aco2 aconitase 2 gene DOID:10907 microcephaly ISO RGD:733187 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Progressive microcephaly PMID:25741868 8711564 Aco2 aconitase 2 gene DOID:1115 sarcoma ISO RGD:733187 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8711564 Aco2 aconitase 2 gene DOID:11162 respiratory failure ISO RGD:733187 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Respiratory insufficiency PMID:25741868|PMID:28492532|PMID:30689204|PMID:32519519 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:1324 lung cancer ISO RGD:733187 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8711564 Aco2 aconitase 2 gene DOID:1826 epilepsy ISO RGD:733187 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532|PMID:30689204|PMID:32519519 8711564 Aco2 aconitase 2 gene DOID:1891 optic nerve disease ISO RGD:733187 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Optic neuropathy PMID:25741868|PMID:28492532|PMID:30689204|PMID:32519519|PMID:34056600 8711564 Aco2 aconitase 2 gene DOID:3133 acute porphyria ISO RGD:733187 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute Porphyria PMID:25741868 8711564 Aco2 aconitase 2 gene DOID:3275 thymoma ISO RGD:733187 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8711564 Aco2 aconitase 2 gene DOID:3890 acute intermittent porphyria ISO RGD:733187 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: PBGD DEFICIENCY PMID:25741868 8711564 Aco2 aconitase 2 gene DOID:5041 esophageal cancer ISO RGD:733187 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus PMID:25741868|PMID:28492532 8711564 Aco2 aconitase 2 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:733187 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 8711564 Aco2 aconitase 2 gene DOID:5723 optic atrophy ISO RGD:733187 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:25741868|PMID:28492532 8711564 Aco2 aconitase 2 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:733187 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8711564 Aco2 aconitase 2 gene DOID:630 genetic disease ISO RGD:733187 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:34056600|PMID:37460232 8711564 Aco2 aconitase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:733187 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8711564 Aco2 aconitase 2 gene DOID:700 mitochondrial metabolism disease ISO RGD:733187 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: mitochondrial disease PMID:25741868|PMID:28492532 8711564 Aco2 aconitase 2 gene DOID:8501 fundus dystrophy ISO RGD:733187 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532|PMID:34056600 8711564 Aco2 aconitase 2 gene DOID:9005603 Muscle Hypotonia ISO RGD:733187 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:25741868|PMID:28492532|PMID:30689204|PMID:32519519 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:0050939 uterine corpus endometrial carcinoma ISO RGD:1603985 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8711586 Mindy1 MINDY lysine 48 deubiquitinase 1 gene DOID:11054 urinary bladder cancer ISO RGD:1603985 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8711586 Mindy1 MINDY lysine 48 deubiquitinase 1 gene DOID:4362 cervical cancer ISO RGD:1603985 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8711586 Mindy1 MINDY lysine 48 deubiquitinase 1 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1603985 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 8711586 Mindy1 MINDY lysine 48 deubiquitinase 1 gene DOID:5041 esophageal cancer ISO RGD:1603985 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8711586 Mindy1 MINDY lysine 48 deubiquitinase 1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1603985 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8711586 Mindy1 MINDY lysine 48 deubiquitinase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1603985 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8711586 Mindy1 MINDY lysine 48 deubiquitinase 1 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1603985 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8711586 Mindy1 MINDY lysine 48 deubiquitinase 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1603985 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8711586 Mindy1 MINDY lysine 48 deubiquitinase 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1603985 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8711586 Mindy1 MINDY lysine 48 deubiquitinase 1 gene DOID:9256 colorectal cancer ISO RGD:1603985 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colorectal cancer 8711623 APOA5 apolipoprotein A5 gene DOID:1172 hyperlipoproteinemia type IV ISO RGD:736192 D RGD:9068941 20260702 CTD CTD Direct Evidence: marker/mechanism 8711623 Apoa5 apolipoprotein A5 gene DOID:1171 hyperlipoproteinemia type V ISO RGD:736192 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Familial type 5 hyperlipoproteinemia | ClinVar Annotator: match by term: HYPERLIPOPROTEINEMIA, TYPE V | ClinVar Annotator: match by term: Hyperlipoproteinemia Type V PMID:18324930|PMID:19447388|PMID:23151256|PMID:23307945|PMID:24591733|PMID:24793350|PMID:25487149|PMID:25741868|PMID:27108409|PMID:28492532|PMID:29954705|PMID:31980526|PMID:32041611|PMID:36325899 8711623 Apoa5 apolipoprotein A5 gene DOID:1171 hyperlipoproteinemia type V susceptibility ISO RGD:736192 D RGD:7240710 20260701 OMIM 8711623 Apoa5 apolipoprotein A5 gene DOID:1172 hyperlipoproteinemia type IV susceptibility ISO RGD:736192 D RGD:7240710 20260701 OMIM 8711623 Apoa5 apolipoprotein A5 gene DOID:1307 dementia ISO RGD:736192 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Dementia 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:8554872 20260519 ClinVar ClinVar Annotator: match by term: APOA5-related condition | ClinVar Annotator: match by term: Hypertriglyceridemia 1 | ClinVar Annotator: match by term: Hypertriglyceridemia, familial PMID:12915450|PMID:17457003|PMID:17576681|PMID:18324930|PMID:18441017|PMID:18635818|PMID:19447388|PMID:20657596|PMID:23151256|PMID:23307945|PMID:24591733|PMID:24793350|PMID:25127531|PMID:25487149|PMID:25741868|PMID:27108409|PMID:27206937|PMID:28492532|PMID:29211729|PMID:29954705|PMID:31980526|PMID:32041611|PMID:36325899|PMID:38331899|PMID:9536098 8711623 Apoa5 apolipoprotein A5 gene DOID:9000810 HYPERTRIGLYCERIDEMIA 1 susceptibility ISO RGD:736192 D RGD:7240710 20260701 OMIM 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:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:736192 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8711623 Apoa5 apolipoprotein A5 gene DOID:9007571 Hyperlipoproteinemias ISO RGD:736192 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hyperlipoproteinemia 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: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 8711636 Tcte1 t-complex-associated-testis-expressed 1 gene DOID:4362 cervical cancer ISO RGD:1604203 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8711636 Tcte1 t-complex-associated-testis-expressed 1 gene DOID:6171 uterine carcinosarcoma ISO RGD:1604203 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8711636 Tcte1 t-complex-associated-testis-expressed 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1604203 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8711636 Tcte1 t-complex-associated-testis-expressed 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1604203 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8711659 Exoc6b exocyst complex component 6B gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1349809 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 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 20260602 ClinVar ClinVar Annotator: match by term: EXOC6B-related condition | ClinVar Annotator: match by term: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 3 | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 3 PMID:25741868|PMID:26669664|PMID:28492532 8711659 Exoc6b exocyst complex component 6B gene DOID:1909 melanoma ISO RGD:1349809 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8711659 Exoc6b exocyst complex component 6B gene DOID:234 colon adenocarcinoma ISO RGD:1349809 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8711659 Exoc6b exocyst complex component 6B gene DOID:3275 thymoma ISO RGD:1349809 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8711659 Exoc6b exocyst complex component 6B gene DOID:4362 cervical cancer ISO RGD:1349809 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 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:5746 ovarian serous cystadenocarcinoma ISO RGD:1349809 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8711659 Exoc6b exocyst complex component 6B gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1349809 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8711659 Exoc6b exocyst complex component 6B gene DOID:9007661 Dwarfism ISO RGD:1349809 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Short stature PMID:23422942|PMID:25256811|PMID:25741868 8711659 Exoc6b exocyst complex component 6B gene DOID:9008952 Breast Cancer, Familial ISO RGD:1349809 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Breast cancer, familial 8711659 Exoc6b exocyst complex component 6B gene DOID:9119 acute myeloid leukemia ISO RGD:1349809 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 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:0080205 congenital anomalies of the kidney and urinary tract ISO RGD:1317068 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30578417 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 20260602 ClinVar ClinVar Annotator: match by term: SPONDYLOCOSTAL DYSOSTOSIS 5 | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 | ClinVar Annotator: match by term: TBX6-related condition PMID:16199547|PMID:23335591|PMID:25564734|PMID:25741868|PMID:28492532|PMID:30636772|PMID:31015262 8711688 Tbx6 T-box transcription factor 6 gene DOID:10488 imperforate anus ISO RGD:1317068 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Imperforate anus PMID:28492532 8711688 Tbx6 T-box transcription factor 6 gene DOID:10534 stomach cancer ISO RGD:1317068 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:28492532 8711688 Tbx6 T-box transcription factor 6 gene DOID:11054 urinary bladder cancer ISO RGD:1317068 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder PMID:28492532 8711688 Tbx6 T-box transcription factor 6 gene DOID:11162 respiratory failure ISO RGD:1317068 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Respiratory insufficiency PMID:28492532 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:1324 lung cancer ISO RGD:1317068 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer PMID:28492532 8711688 Tbx6 T-box transcription factor 6 gene DOID:2256 osteochondrodysplasia ISO RGD:1317068 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:28492532 8711688 Tbx6 T-box transcription factor 6 gene DOID:2340 craniosynostosis ISO RGD:1317068 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Brachycephaly PMID:28492532 8711688 Tbx6 T-box transcription factor 6 gene DOID:3275 thymoma ISO RGD:1317068 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma PMID:28492532 8711688 Tbx6 T-box transcription factor 6 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1317068 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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:9004429 Neurodevelopmental Disorders ISO RGD:1317068 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality PMID:28492532 8711688 Tbx6 T-box transcription factor 6 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1317068 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Breast cancer, familial 8711710 Mypop Myb related transcription factor, partner of profilin gene DOID:1115 sarcoma ISO RGD:1606912 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8711710 Mypop Myb related transcription factor, partner of profilin gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1606912 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8711727 Klhl21 kelch like family member 21 gene DOID:10534 stomach cancer ISO RGD:1351698 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8711727 Klhl21 kelch like family member 21 gene DOID:1115 sarcoma ISO RGD:1351698 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8711727 Klhl21 kelch like family member 21 gene DOID:1324 lung cancer ISO RGD:1351698 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8711727 Klhl21 kelch like family member 21 gene DOID:4362 cervical cancer ISO RGD:1351698 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8711727 Klhl21 kelch like family member 21 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1351698 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8711727 Klhl21 kelch like family member 21 gene DOID:9005834 Ependymomas ISO RGD:1351698 D RGD:8554872 20250401 ClinVar ClinVar Annotator: match by term: Ependymoma 8711742 Pltp phospholipid transfer protein gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1315460 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma PMID:17576681|PMID:28492532|PMID:9536098 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:234 colon adenocarcinoma ISO RGD:1315460 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8711742 Pltp phospholipid transfer protein gene DOID:4074 pancreatic adenocarcinoma ISO RGD:1315460 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma 8711742 Pltp phospholipid transfer protein gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1315460 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 8711742 Pltp phospholipid transfer protein gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1315460 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8711742 Pltp phospholipid transfer protein gene DOID:684 hepatocellular carcinoma ISO RGD:1315460 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 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:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1315460 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 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 8711780 Grhl1 grainyhead like transcription factor 1 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1313942 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8711780 Grhl1 grainyhead like transcription factor 1 gene DOID:10534 stomach cancer ISO RGD:1313942 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8711780 Grhl1 grainyhead like transcription factor 1 gene DOID:11054 urinary bladder cancer ISO RGD:1313942 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8711780 Grhl1 grainyhead like transcription factor 1 gene DOID:1324 lung cancer ISO RGD:1313942 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8711780 Grhl1 grainyhead like transcription factor 1 gene DOID:3275 thymoma ISO RGD:1313942 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8711780 Grhl1 grainyhead like transcription factor 1 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1313942 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma 8711780 Grhl1 grainyhead like transcription factor 1 gene DOID:4362 cervical cancer ISO RGD:1313942 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8711780 Grhl1 grainyhead like transcription factor 1 gene DOID:5041 esophageal cancer ISO RGD:1313942 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8711780 Grhl1 grainyhead like transcription factor 1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1313942 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8711780 Grhl1 grainyhead like transcription factor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1313942 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8711780 Grhl1 grainyhead like transcription factor 1 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1313942 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8711780 Grhl1 grainyhead like transcription factor 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1313942 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8711803 Corin corin, serine peptidase gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1343750 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8711803 Corin corin, serine peptidase gene DOID:0060224 atrial fibrillation ISO RGD:1343750 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Atrial fibrillation PMID:25741868 8711803 Corin corin, serine peptidase gene DOID:10283 prostate cancer ISO RGD:1343750 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prostate cancer PMID:23265383 8711803 Corin corin, serine peptidase gene DOID:10283 prostate cancer ISO RGD:1343750 D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 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:1324 lung cancer ISO RGD:1343750 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8711803 Corin corin, serine peptidase gene DOID:3275 thymoma ISO RGD:1343750 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8711803 Corin corin, serine peptidase gene DOID:5041 esophageal cancer ISO RGD:1343750 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8711803 Corin corin, serine peptidase gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1343750 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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:6354 chronic lymphocytic leukemia/small lymphocytic lymphoma ISO RGD:1343750 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma 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:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1343750 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 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 20260519 ClinVar ClinVar Annotator: match by term: CORIN-related condition 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 20260602 ClinVar ClinVar Annotator: match by term: PREECLAMPSIA/ECLAMPSIA 5 | ClinVar Annotator: match by term: preeclampsia/eclampsia 5 PMID:25741868 8711803 Corin corin, serine peptidase gene DOID:9256 colorectal cancer ISO RGD:1343750 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colorectal cancer 8711829 Crebrf CREB3 regulatory factor gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1603892 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8711829 Crebrf CREB3 regulatory factor gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1603892 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8711829 Crebrf CREB3 regulatory factor gene DOID:1909 melanoma ISO RGD:1603892 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8711829 Crebrf CREB3 regulatory factor gene DOID:2394 ovarian cancer ISO RGD:1603892 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian cancer 8711829 Crebrf CREB3 regulatory factor gene DOID:4362 cervical cancer ISO RGD:1603892 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8711829 Crebrf CREB3 regulatory factor gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1603892 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 8711829 Crebrf CREB3 regulatory factor gene DOID:4947 cholangiocarcinoma ISO RGD:1603892 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 8711829 Crebrf CREB3 regulatory factor gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1603892 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8711829 Crebrf CREB3 regulatory factor gene DOID:684 hepatocellular carcinoma ISO RGD:1603892 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8711829 Crebrf CREB3 regulatory factor gene DOID:9005539 Familial Prostate Cancer ISO RGD:1603892 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial prostate cancer 8711829 Crebrf CREB3 regulatory factor gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1603892 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8711829 Crebrf CREB3 regulatory factor gene DOID:9008952 Breast Cancer, Familial ISO RGD:1603892 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8711849 CCL11 C-C motif chemokine ligand 11 gene DOID:2841 asthma ISO RGD:1351854 D RGD:9068941 20260702 CTD CTD Direct Evidence: marker/mechanism 8711849 CCL11 C-C motif chemokine ligand 11 gene DOID:2841 asthma ISO RGD:1351854 D RGD:9068941 20260702 RGD protein:increased expression:plasma PMID:16304252|REF_RGD_ID:5130930 8711849 CCL11 C-C motif chemokine ligand 11 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1351854 D RGD:9068941 20260702 CTD CTD Direct Evidence: marker/mechanism 8711849 CCL11 C-C motif chemokine ligand 11 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1351854 D RGD:9068941 20260702 RGD protein:increased expression:plasma PMID:27246604|REF_RGD_ID:14995461 8711849 Ccl11 C-C motif chemokine ligand 11 gene DOID:2841 asthma ISO RGD:1551429 D RGD:9068941 20260702 RGD PMID:17060636|PMID:9034156|REF_RGD_ID:4145451|REF_RGD_ID:4891485 8711849 Ccl11 C-C motif chemokine ligand 11 gene DOID:2841 asthma ISO RGD:1551429 D RGD:9068941 20260702 RGD mRNA:increased expression:lung PMID:18250471|REF_RGD_ID:4145392 8711849 Ccl11 C-C motif chemokine ligand 11 gene DOID:2841 asthma ISO RGD:3644 D RGD:9068941 20260702 RGD PMID:17074272|REF_RGD_ID:4145461 8711849 LOC102003870 eotaxin gene DOID:0060496 respiratory allergy ISO RGD:1351854 D RGD:9068941 20260521 CTD CTD Direct Evidence: marker/mechanism PMID:17085522 8711849 LOC102003870 eotaxin gene DOID:0060500 drug allergy ISO RGD:1351854 D RGD:9068941 20260521 CTD CTD Direct Evidence: marker/mechanism PMID:14616128 8711849 LOC102003870 eotaxin gene DOID:0080390 nephrotic syndrome type 1 ISO RGD:1351854 D RGD:9068941 20260521 RGD PMID:9892814|REF_RGD_ID:7248412 8711849 LOC102003870 eotaxin gene DOID:10247 pleurisy ISO RGD:1551429 D RGD:9068941 20260521 RGD protein:increased expression:pleural fluid PMID:11877329|REF_RGD_ID:4145443 8711849 LOC102003870 eotaxin gene DOID:10247 pleurisy ISO RGD:3644 D RGD:9068941 20260521 RGD PMID:11564646|REF_RGD_ID:4145479 8711849 LOC102003870 eotaxin gene DOID:10533 viral pneumonia ISO RGD:1351854 D RGD:9068941 20260521 RGD PMID:20644177|REF_RGD_ID:4140459 8711849 LOC102003870 eotaxin gene DOID:1063 interstitial nephritis ISO RGD:1351854 D RGD:9068941 20260521 RGD PMID:21952467|REF_RGD_ID:7247743 8711849 LOC102003870 eotaxin gene DOID:1115 sarcoma ISO RGD:1351854 D RGD:8554872 20260526 ClinVar ClinVar Annotator: match by term: Sarcoma 8711849 LOC102003870 eotaxin gene DOID:11204 allergic conjunctivitis ISO RGD:3644 D RGD:9068941 20260521 RGD mRNA:increased expression:conjunctiva PMID:12682842|REF_RGD_ID:2307196 8711849 LOC102003870 eotaxin gene DOID:1205 allergic disease ISO RGD:1351854 D RGD:9068941 20260521 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 8711849 LOC102003870 eotaxin gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1551429 D RGD:9068941 20260521 RGD PMID:10955955|REF_RGD_ID:4145447 8711849 LOC102003870 eotaxin gene DOID:12804 mucopolysaccharidosis IV ISO RGD:1351854 D RGD:9068941 20260521 RGD protein:decreased expression:plasma PMID:22176730|REF_RGD_ID:7247741 8711849 LOC102003870 eotaxin gene DOID:1312 focal segmental glomerulosclerosis treatment ISO RGD:1551429 D RGD:9068941 20260521 RGD PMID:22427838|REF_RGD_ID:7247740 8711849 LOC102003870 eotaxin gene DOID:14654 prostatitis ISO RGD:3644 D RGD:9068941 20260521 RGD mRNA:increased expression:prostate gland dorsolateral lobe PMID:10861753|REF_RGD_ID:4145481 8711849 LOC102003870 eotaxin gene DOID:1485 cystic fibrosis ISO RGD:1351854 D RGD:9068941 20260521 RGD protein:increased expression:paranasal sinus PMID:17999785|REF_RGD_ID:4145455 8711849 LOC102003870 eotaxin gene DOID:2316 brain ischemia ISO RGD:1351854 D RGD:9068941 20260521 CTD CTD Direct Evidence: marker/mechanism PMID:15829914 8711849 LOC102003870 eotaxin gene DOID:2841 asthma severity ISO RGD:1351854 D RGD:9068941 20260521 RGD PMID:20704746|REF_RGD_ID:4145387 8711849 LOC102003870 eotaxin gene DOID:2841 asthma susceptibility ISO RGD:1351854 D RGD:7240710 20260701 OMIM 8711849 LOC102003870 eotaxin gene DOID:2841 asthma treatment ISO RGD:3644 D RGD:9068941 20260521 RGD PMID:22932891|REF_RGD_ID:7248416 8711849 LOC102003870 eotaxin gene DOID:289 endometriosis ISO RGD:1351854 D RGD:9068941 20260521 CTD CTD Direct Evidence: marker/mechanism PMID:30579999 8711849 LOC102003870 eotaxin gene DOID:289 endometriosis ISO RGD:3644 D RGD:9068941 20260521 RGD PMID:18595729|REF_RGD_ID:2307108 8711849 LOC102003870 eotaxin gene DOID:2942 bronchiolitis ISO RGD:1351854 D RGD:9068941 20260521 RGD protein:increased expression:nasal mucus PMID:17297249|REF_RGD_ID:4145460 8711849 LOC102003870 eotaxin gene DOID:2942 bronchiolitis severity ISO RGD:1551429 D RGD:9068941 20260521 RGD associated with Respiratory Syncytial Virus Infections PMID:15681407|REF_RGD_ID:4145415 8711849 LOC102003870 eotaxin gene DOID:3021 acute kidney failure ISO RGD:1551429 D RGD:9068941 20260521 RGD protein:increased expression:kidney PMID:22778179|REF_RGD_ID:7247739 8711849 LOC102003870 eotaxin gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:1351854 D RGD:9068941 20260521 RGD PMID:19925666|REF_RGD_ID:4145389 8711849 LOC102003870 eotaxin gene DOID:3310 atopic dermatitis ISO RGD:1351854 D RGD:9068941 20260521 CTD CTD Direct Evidence: marker/mechanism PMID:18249437 8711849 LOC102003870 eotaxin gene DOID:3770 pulmonary fibrosis ISO RGD:1351854 D RGD:9068941 20260521 CTD CTD Direct Evidence: marker/mechanism PMID:16314464|PMID:17620002 8711849 LOC102003870 eotaxin gene DOID:3770 pulmonary fibrosis ISO RGD:1351854 D RGD:9068941 20260521 RGD PMID:17620002|REF_RGD_ID:4145458 8711849 LOC102003870 eotaxin gene DOID:3770 pulmonary fibrosis ISO RGD:1551429 D RGD:9068941 20260521 RGD PMID:16314464|REF_RGD_ID:4145395 8711849 LOC102003870 eotaxin gene DOID:4195 hyperglycemia ISO RGD:1351854 D RGD:9068941 20260521 RGD associated with Diabetes Mellitus, Type 1;protein:increased expression:urine PMID:20841614|REF_RGD_ID:7248408 8711849 LOC102003870 eotaxin gene DOID:4195 hyperglycemia treatment ISO RGD:1351854 D RGD:9068941 20260521 RGD associated with Diabetes Mellitus, Type 1 PMID:23893332|REF_RGD_ID:7248413 8711849 LOC102003870 eotaxin gene DOID:4481 allergic rhinitis treatment ISO RGD:3644 D RGD:9068941 20260521 RGD PMID:23089405|REF_RGD_ID:7248414 8711849 LOC102003870 eotaxin gene DOID:4483 rhinitis ISO RGD:1351854 D RGD:9068941 20260521 RGD associated with Sinusitis;protein:increased expression:paranasal sinus PMID:17999785|REF_RGD_ID:4145455 8711849 LOC102003870 eotaxin gene DOID:4483 rhinitis ISO RGD:3644 D RGD:9068941 20260521 RGD mRNA:increased expression:lung, nose PMID:16765544|REF_RGD_ID:4145462 8711849 LOC102003870 eotaxin gene DOID:4483 rhinitis severity ISO RGD:1351854 D RGD:9068941 20260521 RGD protein:increased expression:nasal mucus PMID:16120080|REF_RGD_ID:4145411 8711849 LOC102003870 eotaxin gene DOID:5041 esophageal cancer ISO RGD:1351854 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8711849 LOC102003870 eotaxin gene DOID:5199 ureteral obstruction ISO RGD:1351854 D RGD:9068941 20260521 RGD PMID:15673311|REF_RGD_ID:7248411 8711849 LOC102003870 eotaxin gene DOID:526 human immunodeficiency virus infectious disease susceptibility ISO RGD:1351854 D RGD:7240710 20260701 OMIM 8711849 LOC102003870 eotaxin gene DOID:552 pneumonia ISO RGD:1351854 D RGD:9068941 20260521 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 8711849 LOC102003870 eotaxin gene DOID:552 pneumonia ISO RGD:1551429 D RGD:9068941 20260521 RGD PMID:11290805|REF_RGD_ID:4145445 8711849 LOC102003870 eotaxin gene DOID:552 pneumonia ISO RGD:3644 D RGD:9068941 20260521 RGD PMID:10595930|REF_RGD_ID:4145450 8711849 LOC102003870 eotaxin gene DOID:552 pneumonia ISO RGD:3644 D RGD:9068941 20260521 RGD mRNA, protein:increased expression:lung, respiratory system fluid/secretion PMID:11290805|REF_RGD_ID:4145445 8711849 LOC102003870 eotaxin gene DOID:83 cataract ISO RGD:3644 D RGD:9068941 20260521 RGD associated with Diabetes Mellitus, Type 1;protein:increased expression:serum PMID:23049540|REF_RGD_ID:7248415 8711849 LOC102003870 eotaxin gene DOID:9000350 Toxocara Canis Infection (Canine Roundworms) ISO RGD:1551429 D RGD:9068941 20260521 RGD protein:increased expression:plasma, respiratory system fluid/secretion PMID:16168564|REF_RGD_ID:7248410 8711849 LOC102003870 eotaxin gene DOID:9000386 Polyomavirus Infections ISO RGD:1351854 D RGD:9068941 20260521 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 8711849 LOC102003870 eotaxin gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:1551429 D RGD:9068941 20260521 RGD associated with Gastrointestinal Diseases PMID:15236177|REF_RGD_ID:4145432 8711849 LOC102003870 eotaxin gene DOID:9000784 Fibrosis ISO RGD:3644 D RGD:9068941 20260521 RGD PMID:20832583|REF_RGD_ID:4145471 8711849 LOC102003870 eotaxin gene DOID:9001371 Eosinophilia ISO RGD:1351854 D RGD:9068941 20260521 RGD associated with Sinusitis PMID:19296494|REF_RGD_ID:4891487 8711849 LOC102003870 eotaxin gene DOID:9001472 Nasal Polyps ISO RGD:1351854 D RGD:9068941 20260521 RGD mRNA:increased expression:nasal cavity epithelium PMID:10415058|REF_RGD_ID:4145448 8711849 LOC102003870 eotaxin gene DOID:9001488 Human Influenza ISO RGD:1551429 D RGD:9068941 20260521 RGD PMID:20656925|REF_RGD_ID:4145452 8711849 LOC102003870 eotaxin gene DOID:9001488 Human Influenza ISO RGD:1551429 D RGD:9068941 20260521 RGD associated with Asthma;protein:increased expression:respiratory system fluid/secretion PMID:12707338|REF_RGD_ID:4145439 8711849 LOC102003870 eotaxin gene DOID:9002165 Diabetic Nephropathies ISO RGD:1351854 D RGD:9068941 20260521 RGD associated with Diabetes Mellitus, Type 2 PMID:21113841|REF_RGD_ID:5683918 8711849 LOC102003870 eotaxin gene DOID:9002287 Respiratory Tract Granuloma ISO RGD:1551429 D RGD:9068941 20260521 RGD mRNA:increased expression:lung PMID:12600821|REF_RGD_ID:4145441 8711849 LOC102003870 eotaxin gene DOID:9002287 Respiratory Tract Granuloma ISO RGD:3644 D RGD:9068941 20260521 RGD PMID:15181185|REF_RGD_ID:4145477 8711849 LOC102003870 eotaxin gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:3644 D RGD:9068941 20260521 RGD mRNA:increased expression:lymph node PMID:19865101|REF_RGD_ID:4145472 8711849 LOC102003870 eotaxin gene DOID:9002850 Immediate Hypersensitivity ISO RGD:3644 D RGD:9068941 20260521 RGD mRNA:increased expression:nasal cavity epithelium PMID:15823807|REF_RGD_ID:2307177 8711849 LOC102003870 eotaxin gene DOID:9002906 Multiple Organ Failure ISO RGD:1551429 D RGD:9068941 20260521 RGD associated with Anthrax;protein:increased expression:serum PMID:16251415|REF_RGD_ID:7248409 8711849 LOC102003870 eotaxin gene DOID:9003470 Picornaviridae Infections ISO RGD:1551429 D RGD:9068941 20260521 RGD associated with Asthma PMID:20644177|REF_RGD_ID:4140459 8711849 LOC102003870 eotaxin gene DOID:9004009 Reperfusion Injury ISO RGD:3644 D RGD:9068941 20260521 RGD mRNA:increased expression:aorta PMID:9665468|REF_RGD_ID:4145482 8711849 LOC102003870 eotaxin gene DOID:9004484 Sepsis ISO RGD:3644 D RGD:9068941 20260521 RGD PMID:21652218|REF_RGD_ID:7248417 8711849 LOC102003870 eotaxin gene DOID:9005372 Inflammation ISO RGD:1351854 D RGD:9068941 20260521 CTD CTD Direct Evidence: marker/mechanism PMID:23707484 8711849 LOC102003870 eotaxin gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:1551429 D RGD:9068941 20260521 RGD PMID:22160777|REF_RGD_ID:7247742 8711849 LOC102003870 eotaxin gene DOID:9007651 Chronic Bronchitis ISO RGD:1351854 D RGD:9068941 20260521 RGD PMID:11991282|REF_RGD_ID:4145442 8711849 LOC102003870 eotaxin gene DOID:9498 pulmonary eosinophilia ISO RGD:10310 D RGD:9068941 20260521 RGD PMID:12750406|REF_RGD_ID:4145437 8711849 LOC102003870 eotaxin gene DOID:9675 pulmonary emphysema disease_progression ISO RGD:1351854 D RGD:9068941 20260521 RGD associated with Pulmonary Disease, Chronic Obstructive;protein:increased expression:lung PMID:17983873|REF_RGD_ID:4145393 8711849 LOC102003870 eotaxin gene DOID:9744 type 1 diabetes mellitus ISO RGD:3644 D RGD:9068941 20260521 RGD protein:increased expression:serum PMID:23049540|REF_RGD_ID:7248415 8711863 Mgst3 microsomal glutathione S-transferase 3 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1314953 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8711863 Mgst3 microsomal glutathione S-transferase 3 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1314953 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8711863 Mgst3 microsomal glutathione S-transferase 3 gene DOID:10534 stomach cancer ISO RGD:1314953 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8711863 Mgst3 microsomal glutathione S-transferase 3 gene DOID:11054 urinary bladder cancer ISO RGD:1314953 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8711863 Mgst3 microsomal glutathione S-transferase 3 gene DOID:1324 lung cancer ISO RGD:1314953 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8711863 Mgst3 microsomal glutathione S-transferase 3 gene DOID:3070 high grade glioma ISO RGD:1314953 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Glioma susceptibility 1 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: Susceptibility to chronic obstructive pulmonary disease 8711863 Mgst3 microsomal glutathione S-transferase 3 gene DOID:5041 esophageal cancer ISO RGD:1314953 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8711863 Mgst3 microsomal glutathione S-transferase 3 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1314953 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8711863 Mgst3 microsomal glutathione S-transferase 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1314953 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8711863 Mgst3 microsomal glutathione S-transferase 3 gene DOID:9002159 Liver Reperfusion Injury ISO RGD:1306373 D RGD:9068941 20250906 RGD mRNA:decreased expression:liver PMID:17397868|REF_RGD_ID:626419685 8711863 Mgst3 microsomal glutathione S-transferase 3 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1314953 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8711863 Mgst3 microsomal glutathione S-transferase 3 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1314953 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast 8711879 Slc49a3 solute carrier family 49 member 3 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1604571 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8711879 Slc49a3 solute carrier family 49 member 3 gene DOID:10534 stomach cancer ISO RGD:1604571 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8711879 Slc49a3 solute carrier family 49 member 3 gene DOID:11054 urinary bladder cancer ISO RGD:1604571 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8711879 Slc49a3 solute carrier family 49 member 3 gene DOID:3275 thymoma ISO RGD:1604571 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8711879 Slc49a3 solute carrier family 49 member 3 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1604571 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8711879 Slc49a3 solute carrier family 49 member 3 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1604571 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8711879 Slc49a3 solute carrier family 49 member 3 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1604571 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8711879 Slc49a3 solute carrier family 49 member 3 gene DOID:9119 acute myeloid leukemia ISO RGD:1604571 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8711893 Spats2l spermatogenesis associated serine rich 2 like gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1607063 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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:10534 stomach cancer ISO RGD:1607063 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8711893 Spats2l spermatogenesis associated serine rich 2 like gene DOID:1115 sarcoma ISO RGD:1607063 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8711893 Spats2l spermatogenesis associated serine rich 2 like gene DOID:1909 melanoma ISO RGD:1607063 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8711893 Spats2l spermatogenesis associated serine rich 2 like gene DOID:3275 thymoma ISO RGD:1607063 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8711893 Spats2l spermatogenesis associated serine rich 2 like gene DOID:4362 cervical cancer ISO RGD:1607063 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8711893 Spats2l spermatogenesis associated serine rich 2 like gene DOID:5041 esophageal cancer ISO RGD:1607063 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8711893 Spats2l spermatogenesis associated serine rich 2 like gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1607063 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8711893 Spats2l spermatogenesis associated serine rich 2 like gene DOID:6171 uterine carcinosarcoma ISO RGD:1607063 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8711893 Spats2l spermatogenesis associated serine rich 2 like gene DOID:684 hepatocellular carcinoma ISO RGD:1607063 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8711893 Spats2l spermatogenesis associated serine rich 2 like gene DOID:9004083 Familial Pancreatic Carcinoma ISO RGD:1607063 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial pancreatic carcinoma 8711893 Spats2l spermatogenesis associated serine rich 2 like gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1607063 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8711893 Spats2l spermatogenesis associated serine rich 2 like gene DOID:9008952 Breast Cancer, Familial ISO RGD:1607063 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8711893 Spats2l spermatogenesis associated serine rich 2 like gene DOID:9119 acute myeloid leukemia ISO RGD:1607063 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8711928 Nap1l1 nucleosome assembly protein 1 like 1 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:737279 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8711928 Nap1l1 nucleosome assembly protein 1 like 1 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:737279 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8711928 Nap1l1 nucleosome assembly protein 1 like 1 gene DOID:10534 stomach cancer ISO RGD:737279 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 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:1324 lung cancer ISO RGD:737279 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 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:234 colon adenocarcinoma ISO RGD:737279 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8711928 Nap1l1 nucleosome assembly protein 1 like 1 gene DOID:3070 high grade glioma ISO RGD:737279 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Glioma susceptibility 1 8711928 Nap1l1 nucleosome assembly protein 1 like 1 gene DOID:4362 cervical cancer ISO RGD:737279 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8711928 Nap1l1 nucleosome assembly protein 1 like 1 gene DOID:4947 cholangiocarcinoma ISO RGD:737279 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 8711928 Nap1l1 nucleosome assembly protein 1 like 1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:737279 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:737279 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 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 8711928 Nap1l1 nucleosome assembly protein 1 like 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:737279 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8711928 Nap1l1 nucleosome assembly protein 1 like 1 gene DOID:9119 acute myeloid leukemia ISO RGD:737279 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8711974 Wwc2 WW and C2 domain containing 2 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1605043 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8711974 Wwc2 WW and C2 domain containing 2 gene DOID:10534 stomach cancer ISO RGD:1605043 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8711974 Wwc2 WW and C2 domain containing 2 gene DOID:1115 sarcoma ISO RGD:1605043 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8711974 Wwc2 WW and C2 domain containing 2 gene DOID:1909 melanoma ISO RGD:1605043 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8711974 Wwc2 WW and C2 domain containing 2 gene DOID:2843 long QT syndrome ISO RGD:1605043 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Long QT syndrome 8711974 Wwc2 WW and C2 domain containing 2 gene DOID:4362 cervical cancer ISO RGD:1605043 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8711974 Wwc2 WW and C2 domain containing 2 gene DOID:4947 cholangiocarcinoma ISO RGD:1605043 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 8711974 Wwc2 WW and C2 domain containing 2 gene DOID:5041 esophageal cancer ISO RGD:1605043 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8711974 Wwc2 WW and C2 domain containing 2 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1605043 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8711974 Wwc2 WW and C2 domain containing 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1605043 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8711974 Wwc2 WW and C2 domain containing 2 gene DOID:9004083 Familial Pancreatic Carcinoma ISO RGD:1605043 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial pancreatic carcinoma 8711974 Wwc2 WW and C2 domain containing 2 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1605043 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8711974 Wwc2 WW and C2 domain containing 2 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1605043 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8711974 Wwc2 WW and C2 domain containing 2 gene DOID:9256 colorectal cancer ISO RGD:1605043 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colorectal cancer 8712001 Emp3 epithelial membrane protein 3 (MAM blood group) gene DOID:10534 stomach cancer ISO RGD:731841 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8712001 Emp3 epithelial membrane protein 3 (MAM blood group) gene DOID:1115 sarcoma ISO RGD:731841 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8712001 Emp3 epithelial membrane protein 3 (MAM blood group) gene DOID:3070 high grade glioma ISO RGD:731841 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Glioma susceptibility 1 8712001 Emp3 epithelial membrane protein 3 (MAM blood group) gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:731841 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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 8712001 Emp3 epithelial membrane protein 3 (MAM blood group) gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:731841 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8712019 Ift57 intraflagellar transport 57 gene DOID:0050572 cone-rod dystrophy ISO RGD:1314279 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:25741868|PMID:28492532|PMID:40273360 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 20260602 ClinVar ClinVar Annotator: match by term: IFT57-related condition | ClinVar Annotator: match by term: Orofaciodigital syndrome 18 | ClinVar Annotator: match by term: Orofaciodigital syndrome XVIII PMID:25741868|PMID:28492532 8712019 Ift57 intraflagellar transport 57 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1314279 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:25741868|PMID:28492532|PMID:40273360 8712019 Ift57 intraflagellar transport 57 gene DOID:1148 polydactyly ISO RGD:1314279 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Polydactyly PMID:25741868|PMID:28492532|PMID:40273360 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 8712019 Ift57 intraflagellar transport 57 gene DOID:1324 lung cancer ISO RGD:1314279 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8712019 Ift57 intraflagellar transport 57 gene DOID:1909 melanoma ISO RGD:1314279 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8712019 Ift57 intraflagellar transport 57 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1314279 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:25741868|PMID:28492532|PMID:40273360 8712019 Ift57 intraflagellar transport 57 gene DOID:4074 pancreatic adenocarcinoma ISO RGD:1314279 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma 8712019 Ift57 intraflagellar transport 57 gene DOID:4362 cervical cancer ISO RGD:1314279 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8712019 Ift57 intraflagellar transport 57 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1314279 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8712019 Ift57 intraflagellar transport 57 gene DOID:684 hepatocellular carcinoma ISO RGD:1314279 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8712019 Ift57 intraflagellar transport 57 gene DOID:8499 night blindness ISO RGD:1314279 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Night blindness PMID:25741868|PMID:28492532|PMID:40273360 8712019 Ift57 intraflagellar transport 57 gene DOID:9002008 BROWN SYNDROME ISO RGD:1314279 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Brown syndrome PMID:25741868|PMID:28492532|PMID:40273360 8712019 Ift57 intraflagellar transport 57 gene DOID:9004538 Hearing Loss ISO RGD:1314279 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:25741868|PMID:28492532|PMID:40273360 8712019 Ift57 intraflagellar transport 57 gene DOID:9005369 Hepatomegaly ISO RGD:1314279 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatomegaly PMID:25741868|PMID:28492532|PMID:40273360 8712019 Ift57 intraflagellar transport 57 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1314279 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8712019 Ift57 intraflagellar transport 57 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1314279 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8712019 Ift57 intraflagellar transport 57 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1314279 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:25741868|PMID:28492532|PMID:40273360 8712019 Ift57 intraflagellar transport 57 gene DOID:9970 obesity ISO RGD:1314279 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Obesity PMID:25741868|PMID:28492532|PMID:40273360 8712034 Cul5 cullin 5 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:733947 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8712034 Cul5 cullin 5 gene DOID:10534 stomach cancer ISO RGD:733947 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8712034 Cul5 cullin 5 gene DOID:1115 sarcoma ISO RGD:733947 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8712034 Cul5 cullin 5 gene DOID:1324 lung cancer ISO RGD:733947 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8712034 Cul5 cullin 5 gene DOID:1909 melanoma ISO RGD:733947 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8712034 Cul5 cullin 5 gene DOID:234 colon adenocarcinoma ISO RGD:733947 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8712034 Cul5 cullin 5 gene DOID:3275 thymoma ISO RGD:733947 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8712034 Cul5 cullin 5 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:733947 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 8712034 Cul5 cullin 5 gene DOID:5041 esophageal cancer ISO RGD:733947 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8712034 Cul5 cullin 5 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:733947 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8712034 Cul5 cullin 5 gene DOID:6171 uterine carcinosarcoma ISO RGD:733947 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8712034 Cul5 cullin 5 gene DOID:684 hepatocellular carcinoma ISO RGD:733947 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 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:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:733947 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8712034 Cul5 cullin 5 gene DOID:9008939 Breast Neoplasms ISO RGD:733947 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20949323 8712034 Cul5 cullin 5 gene DOID:9119 acute myeloid leukemia ISO RGD:733947 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 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:10534 stomach cancer ISO RGD:1316908 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8712066 Stard7 StAR related lipid transfer domain containing 7 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1316908 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma 8712066 Stard7 StAR related lipid transfer domain containing 7 gene DOID:5041 esophageal cancer ISO RGD:1316908 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8712066 Stard7 StAR related lipid transfer domain containing 7 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1316908 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 8712066 Stard7 StAR related lipid transfer domain containing 7 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1316908 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8712066 Stard7 StAR related lipid transfer domain containing 7 gene DOID:9119 acute myeloid leukemia ISO RGD:1316908 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8712078 Ccm2 CCM2 scaffold protein gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1317623 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma PMID:25741868|PMID:26467025|PMID:28492532 8712078 Ccm2 CCM2 scaffold protein gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1317623 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8712078 Ccm2 CCM2 scaffold protein gene DOID:0060669 cerebral cavernous malformation ISO RGD:1317623 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cerebral cavernous malformation PMID:25741868 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 20260602 ClinVar ClinVar Annotator: match by term: CCM2-related condition | ClinVar Annotator: match by term: CEREBRAL CAVERNOUS MALFORMATIONS 2 | ClinVar Annotator: match by term: Cerebral cavernous malformation 2 | ClinVar Annotator: match by term: Cerebral cavernous malformations 2 | 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:19088124|PMID:19475721|PMID:20419355|PMID:23595507|PMID:24466005|PMID:2468908|PMID:24689081|PMID:25525273|PMID:25741868|PMID:26467025|PMID:27792856|PMID:28492532|PMID:28655553|PMID:29758562|PMID:30161288|PMID:31824402|PMID:34357553|PMID:36629374|PMID:9536098 8712078 Ccm2 CCM2 scaffold protein gene DOID:11054 urinary bladder cancer ISO RGD:1317623 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8712078 Ccm2 CCM2 scaffold protein gene DOID:1115 sarcoma ISO RGD:1317623 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8712078 Ccm2 CCM2 scaffold protein gene DOID:2394 ovarian cancer ISO RGD:1317623 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:26467025|PMID:28492532 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:5041 esophageal cancer ISO RGD:1317623 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8712078 Ccm2 CCM2 scaffold protein gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1317623 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8712078 Ccm2 CCM2 scaffold protein gene DOID:6171 uterine carcinosarcoma ISO RGD:1317623 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma PMID:25741868|PMID:26467025|PMID:28492532 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:6354 chronic lymphocytic leukemia/small lymphocytic lymphoma ISO RGD:1317623 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma PMID:25741868|PMID:26467025|PMID:28492532 8712078 Ccm2 CCM2 scaffold protein gene DOID:684 hepatocellular carcinoma ISO RGD:1317623 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 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 8712078 Ccm2 CCM2 scaffold protein gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1317623 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8712078 Ccm2 CCM2 scaffold protein gene DOID:9008952 Breast Cancer, Familial ISO RGD:1317623 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868|PMID:26467025|PMID:28492532 8712105 Ikbke inhibitor of nuclear factor kappa B kinase subunit epsilon gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1318072 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8712105 Ikbke inhibitor of nuclear factor kappa B kinase subunit epsilon gene DOID:10534 stomach cancer ISO RGD:1318072 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8712105 Ikbke inhibitor of nuclear factor kappa B kinase subunit epsilon gene DOID:1324 lung cancer ISO RGD:1318072 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8712105 Ikbke inhibitor of nuclear factor kappa B kinase subunit epsilon gene DOID:2394 ovarian cancer ISO RGD:1318072 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian cancer 8712105 Ikbke inhibitor of nuclear factor kappa B kinase subunit epsilon gene DOID:4362 cervical cancer ISO RGD:1318072 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8712105 Ikbke inhibitor of nuclear factor kappa B kinase subunit epsilon gene DOID:5041 esophageal cancer ISO RGD:1318072 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8712105 Ikbke inhibitor of nuclear factor kappa B kinase subunit epsilon gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1318072 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8712105 Ikbke inhibitor of nuclear factor kappa B kinase subunit epsilon gene DOID:6039 uveal melanoma ISO RGD:1318072 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uveal melanoma 8712105 Ikbke inhibitor of nuclear factor kappa B kinase subunit epsilon gene DOID:6171 uterine carcinosarcoma ISO RGD:1318072 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8712105 Ikbke inhibitor of nuclear factor kappa B kinase subunit epsilon gene DOID:6354 chronic lymphocytic leukemia/small lymphocytic lymphoma ISO RGD:1318072 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma 8712105 Ikbke inhibitor of nuclear factor kappa B kinase subunit epsilon gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1318072 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8712105 Ikbke inhibitor of nuclear factor kappa B kinase subunit epsilon gene DOID:9008952 Breast Cancer, Familial ISO RGD:1318072 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8712148 Tmem232 transmembrane protein 232 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:3029048 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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:684 hepatocellular carcinoma ISO RGD:3029048 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8712148 Tmem232 transmembrane protein 232 gene DOID:9008952 Breast Cancer, Familial ISO RGD:3029048 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8712148 Tmem232 transmembrane protein 232 gene DOID:9119 acute myeloid leukemia ISO RGD:3029048 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8712175 Cibar1 CBY1 interacting BAR domain containing 1 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1604747 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 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:10534 stomach cancer ISO RGD:1604747 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 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:3275 thymoma ISO RGD:1604747 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8712175 Cibar1 CBY1 interacting BAR domain containing 1 gene DOID:6171 uterine carcinosarcoma ISO RGD:1604747 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8712175 Cibar1 CBY1 interacting BAR domain containing 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1604747 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 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 20260602 ClinVar ClinVar Annotator: match by term: Polydactyly, postaxial, type A9 PMID:25741868 8712175 Cibar1 CBY1 interacting BAR domain containing 1 gene DOID:9003488 Postaxial Polydactyly, Type A1 ISO RGD:1604747 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Postaxial polydactyly type A PMID:25741868 8712175 Cibar1 CBY1 interacting BAR domain containing 1 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1604747 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 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:0050387 nonpapillary renal cell carcinoma ISO RGD:1317450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 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: 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 20260519 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability PMID:25741868|PMID:33941880|PMID:36189577 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1317450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:0060058 lymphoma ISO RGD:1317450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lymphoma PMID:23823660|PMID:24076604|PMID:24710217|PMID:25741868|PMID:27872090|PMID:27993330|PMID:30171259|PMID:33941880|PMID:36189577 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:0080638 B-cell acute lymphoblastic leukemia ISO RGD:1317450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Precursor B-cell acute lymphoblastic leukemia PMID:23823660|PMID:24076604|PMID:24710217|PMID:25741868|PMID:27872090|PMID:27993330|PMID:30171259|PMID:33941880|PMID:36189577 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:0080702 medulloblastoma WNT activated ISO RGD:1317450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Medulloblastoma WNT activated PMID:23823660|PMID:24076604|PMID:24710217|PMID:25741868|PMID:27872090|PMID:27993330|PMID:30171259|PMID:33941880|PMID:36189577 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:0110764 hereditary spastic paraplegia 11 ISO RGD:1317450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gait disturbance PMID:25741868 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:0112177 Mayer-Rokitansky-Kuster-Hauser syndrome ISO RGD:1317450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Aplasia of the uterus PMID:25741868 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:10534 stomach cancer ISO RGD:1317450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:1059 intellectual disability ISO RGD:1317450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Intellectual disability 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:1094 attention deficit hyperactivity disorder ISO RGD:1317450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Attention deficit hyperactivity disorder PMID:25741868 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:1115 sarcoma ISO RGD:1317450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:11383 cryptorchidism ISO RGD:1317450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cryptorchidism PMID:23823660|PMID:24076604|PMID:24710217|PMID:25741868|PMID:27872090|PMID:27993330|PMID:30171259|PMID:33941880|PMID:36189577 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:11514 fissured tongue ISO RGD:1317450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Plicated tongue PMID:23823660|PMID:24076604|PMID:24710217|PMID:25741868|PMID:27872090|PMID:27993330|PMID:30171259|PMID:33941880|PMID:36189577 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:11782 astigmatism ISO RGD:1317450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Astigmatism PMID:25741868 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:11830 myopia ISO RGD:1317450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Myopia PMID:25741868 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:11836 clubfoot ISO RGD:1317450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clubfeet PMID:23823660|PMID:24076604|PMID:24710217|PMID:25741868|PMID:27872090|PMID:27993330|PMID:30171259|PMID:33941880|PMID:36189577 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1317450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23823660|PMID:24076604|PMID:24710217|PMID:25741868|PMID:27872090|PMID:27993330|PMID:30171259|PMID:33941880|PMID:36189577 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:12638 hypertrophic pyloric stenosis ISO RGD:1317450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Congenital hypertrophic pyloric stenosis PMID:23823660|PMID:24076604|PMID:24710217|PMID:25741868|PMID:27872090|PMID:27993330|PMID:30171259|PMID:33941880|PMID:36189577 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:12679 nephrocalcinosis ISO RGD:1317450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nephrocalcinosis PMID:23823660|PMID:24076604|PMID:24710217|PMID:25741868|PMID:27872090|PMID:27993330|PMID:30171259|PMID:33941880|PMID:36189577 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:12716 newborn respiratory distress syndrome ISO RGD:1317450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Neonatal respiratory distress PMID:25741868 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:12849 autistic disorder ISO RGD:1317450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:13580 cholestasis ISO RGD:1317450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholestasis PMID:23823660|PMID:24076604|PMID:24710217|PMID:25741868|PMID:27872090|PMID:27993330|PMID:30171259|PMID:33941880|PMID:36189577 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:13832 patent ductus arteriosus ISO RGD:1317450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Patent ductus arteriosus PMID:23823660|PMID:24076604|PMID:24710217|PMID:25741868|PMID:27872090|PMID:27993330|PMID:30171259|PMID:33941880|PMID:36189577 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:1588 thrombocytopenia ISO RGD:1317450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:23823660|PMID:24076604|PMID:24710217|PMID:25741868|PMID:27872090|PMID:27993330|PMID:30171259|PMID:33941880|PMID:36189577 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:1657 ventricular septal defect ISO RGD:1317450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ventricular septal defect PMID:23823660|PMID:24076604|PMID:24710217|PMID:25741868|PMID:27872090|PMID:27993330|PMID:30171259|PMID:33941880|PMID:36189577 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:1826 epilepsy ISO RGD:1317450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Seizure 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:234 colon adenocarcinoma ISO RGD:1317450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:2340 craniosynostosis ISO RGD:1317450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Brachycephaly PMID:25741868 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:2355 anemia ISO RGD:1317450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Anemia PMID:23823660|PMID:24076604|PMID:24710217|PMID:25741868|PMID:27872090|PMID:27993330|PMID:30171259|PMID:33941880|PMID:36189577 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:2841 asthma ISO RGD:1317450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Asthma PMID:25741868 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:3070 high grade glioma ISO RGD:1317450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Glioma susceptibility 1 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:3275 thymoma ISO RGD:1317450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 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:4188 echolalia ISO RGD:1317450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Echolalia 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:423 myopathy ISO RGD:1317450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Myopathy PMID:25741868 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:4362 cervical cancer ISO RGD:1317450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:4667 kyphosis ISO RGD:1317450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Kyphosis 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:5041 esophageal cancer ISO RGD:1317450 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:557 kidney disease ISO RGD:1317450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Renal dysplasia PMID:23823660|PMID:24076604|PMID:24710217|PMID:25741868|PMID:27872090|PMID:27993330|PMID:30171259|PMID:33941880|PMID:36189577 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1317450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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:6354 chronic lymphocytic leukemia/small lymphocytic lymphoma ISO RGD:1317450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1317450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:8534 gastroesophageal reflux disease ISO RGD:1317450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastroesophageal reflux 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:8927 learning disability ISO RGD:1317450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Specific learning disability PMID:25741868 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:9001031 Retrognathia ISO RGD:1317450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: retrognathism PMID:23823660|PMID:24076604|PMID:24710217|PMID:25741868|PMID:27872090|PMID:27993330|PMID:30171259|PMID:33941880|PMID:36189577 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:9001276 Failure to Thrive ISO RGD:1317450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:25741868 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:9001581 Constipation ISO RGD:1317450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Constipation PMID:25741868 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:9001716 Hip Contracture ISO RGD:1317450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hip contracture PMID:25741868 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:9002453 Cafe-au-Lait Spots ISO RGD:1317450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cafe-au-lait spot PMID:25741868 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:9002720 Splenomegaly ISO RGD:1317450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:23823660|PMID:24076604|PMID:24710217|PMID:25741868|PMID:27872090|PMID:27993330|PMID:30171259|PMID:33941880|PMID:36189577 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:9003104 Intracranial Hemorrhages ISO RGD:1317450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Intracranial Hemorrhages PMID:23823660|PMID:24076604|PMID:24710217|PMID:25741868|PMID:27872090|PMID:27993330|PMID:30171259|PMID:33941880|PMID:36189577 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:9003760 Myalgia ISO RGD:1317450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Myalgia PMID:25741868 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:9004083 Familial Pancreatic Carcinoma ISO RGD:1317450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial pancreatic carcinoma 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 20260602 ClinVar ClinVar Annotator: match by term: NSD2-related condition | ClinVar Annotator: match by term: RAUCH-STEINDL SYNDROME | ClinVar Annotator: match by term: Rauch-Steindl syndrome | ClinVar Annotator: match by term: Wolf-Hirschhorn like syndrome | ClinVar Annotator: match by term: Wolf-Hirschhorn-like syndrome PMID:11252005|PMID:23823660|PMID:24076604|PMID:24710217|PMID:25741868|PMID:27872090|PMID:27993330|PMID:28492532|PMID:29758562|PMID:29760529|PMID:29892088|PMID:30171259|PMID:30244530|PMID:30345613|PMID:31171569|PMID:31382906|PMID:33941880|PMID:36189577 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 20260519 ClinVar ClinVar Annotator: match by term: Giant tongue PMID:23823660|PMID:24076604|PMID:24710217|PMID:25741868|PMID:27872090|PMID:27993330|PMID:30171259|PMID:33941880|PMID:36189577 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:9005369 Hepatomegaly ISO RGD:1317450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatomegaly PMID:23823660|PMID:24076604|PMID:24710217|PMID:25741868|PMID:27872090|PMID:27993330|PMID:30171259|PMID:33941880|PMID:36189577 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:9005532 Muscle Weakness ISO RGD:1317450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Progressive muscle weakness PMID:25741868 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1317450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial prostate cancer 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:9005603 Muscle Hypotonia ISO RGD:1317450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia PMID:25741868 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:9006743 Spasm ISO RGD:1317450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Muscle spasm PMID:25741868 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1317450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:9007573 Flatfoot ISO RGD:1317450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Pes planus 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:9007661 Dwarfism ISO RGD:1317450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Short stature 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:9007722 Myoclonus ISO RGD:1317450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Myoclonus PMID:25741868 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:9007817 Macroglossia ISO RGD:1317450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Macroglossia PMID:23823660|PMID:24076604|PMID:24710217|PMID:25741868|PMID:27872090|PMID:27993330|PMID:30171259|PMID:33941880|PMID:36189577 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:9007892 Tics ISO RGD:1317450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Tics PMID:25741868 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:9008023 Memory Disorders ISO RGD:1317450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Memory impairment PMID:25741868 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1317450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:23823660|PMID:24076604|PMID:24710217|PMID:25741868|PMID:27872090|PMID:27993330|PMID:30171259|PMID:33941880|PMID:36189577 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:9008952 Breast Cancer, Familial ISO RGD:1317450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1317450 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 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 20260519 ClinVar ClinVar Annotator: match by term: Hypoglycemia PMID:23823660|PMID:24076604|PMID:24710217|PMID:25741868|PMID:27872090|PMID:27993330|PMID:30171259|PMID:33941880|PMID:36189577 8712239 Cd59 CD59 molecule (CD59 blood group) gene DOID:0070658 alcohol-associated liver disease 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: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:1115 sarcoma ISO RGD:736600 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 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:3275 thymoma ISO RGD:736600 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 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:4074 pancreatic adenocarcinoma ISO RGD:736600 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma 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:5746 ovarian serous cystadenocarcinoma ISO RGD:736600 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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 20260519 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8712239 Cd59 CD59 molecule (CD59 blood group) gene DOID:684 hepatocellular carcinoma ISO RGD:736600 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 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: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 20260519 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: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 8712239 Cd59 CD59 molecule (CD59 blood group) gene DOID:9119 acute myeloid leukemia ISO RGD:736600 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 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 8712275 Ehd3 EH domain containing 3 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1346639 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8712275 Ehd3 EH domain containing 3 gene DOID:10534 stomach cancer ISO RGD:1346639 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8712275 Ehd3 EH domain containing 3 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1346639 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 8712275 Ehd3 EH domain containing 3 gene DOID:4947 cholangiocarcinoma ISO RGD:1346639 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 8712275 Ehd3 EH domain containing 3 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1346639 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 8712275 Ehd3 EH domain containing 3 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1346639 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1346639 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8712275 Ehd3 EH domain containing 3 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1346639 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 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:0050939 uterine corpus endometrial carcinoma ISO RGD:1603812 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8712285 LOC102023845 chromosome unknown open reading frame, human C14orf180 gene DOID:1115 sarcoma ISO RGD:1603812 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 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 8712285 LOC102023845 chromosome unknown open reading frame, human C14orf180 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1603812 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 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:1324 lung cancer ISO RGD:1605621 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8712309 Ccdc134 coiled-coil domain containing 134 gene DOID:4074 pancreatic adenocarcinoma ISO RGD:1605621 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma 8712309 Ccdc134 coiled-coil domain containing 134 gene DOID:4362 cervical cancer ISO RGD:1605621 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8712309 Ccdc134 coiled-coil domain containing 134 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1605621 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 8712309 Ccdc134 coiled-coil domain containing 134 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1605621 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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 20260602 ClinVar ClinVar Annotator: match by term: CCDC134-related condition | ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE XXII PMID:25741868 8712309 Ccdc134 coiled-coil domain containing 134 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1605621 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 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 8712309 Ccdc134 coiled-coil domain containing 134 gene DOID:9119 acute myeloid leukemia ISO RGD:1605621 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8712326 Psmd1 proteasome 26S subunit, non-ATPase 1 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:734088 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8712326 Psmd1 proteasome 26S subunit, non-ATPase 1 gene DOID:11054 urinary bladder cancer ISO RGD:734088 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8712326 Psmd1 proteasome 26S subunit, non-ATPase 1 gene DOID:1115 sarcoma ISO RGD:734088 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8712326 Psmd1 proteasome 26S subunit, non-ATPase 1 gene DOID:1324 lung cancer ISO RGD:734088 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8712326 Psmd1 proteasome 26S subunit, non-ATPase 1 gene DOID:1909 melanoma ISO RGD:734088 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8712326 Psmd1 proteasome 26S subunit, non-ATPase 1 gene DOID:2394 ovarian cancer ISO RGD:734088 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian cancer 8712326 Psmd1 proteasome 26S subunit, non-ATPase 1 gene DOID:3907 lung squamous cell carcinoma ISO RGD:734088 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma 8712326 Psmd1 proteasome 26S subunit, non-ATPase 1 gene DOID:4074 pancreatic adenocarcinoma ISO RGD:734088 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma 8712326 Psmd1 proteasome 26S subunit, non-ATPase 1 gene DOID:5041 esophageal cancer ISO RGD:734088 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8712326 Psmd1 proteasome 26S subunit, non-ATPase 1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:734088 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8712326 Psmd1 proteasome 26S subunit, non-ATPase 1 gene DOID:9004083 Familial Pancreatic Carcinoma ISO RGD:734088 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial pancreatic carcinoma 8712326 Psmd1 proteasome 26S subunit, non-ATPase 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:734088 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8712326 Psmd1 proteasome 26S subunit, non-ATPase 1 gene DOID:9256 colorectal cancer ISO RGD:734088 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colorectal cancer 8712395 Fam135a family with sequence similarity 135 member A gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1312650 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8712395 Fam135a family with sequence similarity 135 member A gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1312650 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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: Histiocytoid cardiomyopathy 8712395 Fam135a family with sequence similarity 135 member A gene DOID:10534 stomach cancer ISO RGD:1312650 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8712395 Fam135a family with sequence similarity 135 member A gene DOID:1115 sarcoma ISO RGD:1312650 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8712395 Fam135a family with sequence similarity 135 member A gene DOID:1324 lung cancer ISO RGD:1312650 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8712395 Fam135a family with sequence similarity 135 member A gene DOID:1909 melanoma ISO RGD:1312650 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8712395 Fam135a family with sequence similarity 135 member A gene DOID:4074 pancreatic adenocarcinoma ISO RGD:1312650 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma 8712395 Fam135a family with sequence similarity 135 member A gene DOID:4947 cholangiocarcinoma ISO RGD:1312650 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 8712395 Fam135a family with sequence similarity 135 member A gene DOID:5041 esophageal cancer ISO RGD:1312650 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8712395 Fam135a family with sequence similarity 135 member A gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1312650 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8712395 Fam135a family with sequence similarity 135 member A gene DOID:6171 uterine carcinosarcoma ISO RGD:1312650 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8712395 Fam135a family with sequence similarity 135 member A gene DOID:6354 chronic lymphocytic leukemia/small lymphocytic lymphoma ISO RGD:1312650 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma 8712395 Fam135a family with sequence similarity 135 member A gene DOID:684 hepatocellular carcinoma ISO RGD:1312650 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8712395 Fam135a family with sequence similarity 135 member A gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1312650 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8712395 Fam135a family with sequence similarity 135 member A gene DOID:9008952 Breast Cancer, Familial ISO RGD:1312650 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8712441 Kmt5a lysine methyltransferase 5A gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1602807 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8712441 Kmt5a lysine methyltransferase 5A gene DOID:10283 prostate cancer ISO RGD:1602807 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prostate cancer PMID:23265383 8712441 Kmt5a lysine methyltransferase 5A gene DOID:10283 prostate cancer ISO RGD:1602807 D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 8712441 Kmt5a lysine methyltransferase 5A gene DOID:1115 sarcoma ISO RGD:1602807 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8712441 Kmt5a lysine methyltransferase 5A gene DOID:4947 cholangiocarcinoma ISO RGD:1602807 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 8712441 Kmt5a lysine methyltransferase 5A gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1602807 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8712441 Kmt5a lysine methyltransferase 5A gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1602807 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8712441 Kmt5a lysine methyltransferase 5A gene DOID:9119 acute myeloid leukemia ISO RGD:1602807 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8712453 Prxl2a peroxiredoxin like 2A gene DOID:1115 sarcoma ISO RGD:1320148 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8712453 Prxl2a peroxiredoxin like 2A gene DOID:1909 melanoma ISO RGD:1320148 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8712453 Prxl2a peroxiredoxin like 2A gene DOID:234 colon adenocarcinoma ISO RGD:1320148 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8712453 Prxl2a peroxiredoxin like 2A gene DOID:3070 high grade glioma ISO RGD:1320148 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Glioma susceptibility 1 8712453 Prxl2a peroxiredoxin like 2A gene DOID:3275 thymoma ISO RGD:1320148 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8712453 Prxl2a peroxiredoxin like 2A gene DOID:4362 cervical cancer ISO RGD:1320148 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8712453 Prxl2a peroxiredoxin like 2A gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1320148 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8712453 Prxl2a peroxiredoxin like 2A gene DOID:9008952 Breast Cancer, Familial ISO RGD:1320148 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8712453 Prxl2a peroxiredoxin like 2A gene DOID:9256 colorectal cancer ISO RGD:1320148 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colorectal cancer 8712491 Rabac1 Rab acceptor 1 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:736141 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:28492532 8712491 Rabac1 Rab acceptor 1 gene DOID:1909 melanoma ISO RGD:736141 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8712491 Rabac1 Rab acceptor 1 gene DOID:5041 esophageal cancer ISO RGD:736141 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8712491 Rabac1 Rab acceptor 1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:736141 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8712491 Rabac1 Rab acceptor 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:736141 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8712514 Fzd2 frizzled class receptor 2 gene DOID:0060254 Robinow syndrome ISO RGD:732091 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acral dysostosis with facial and genital abnormalities | ClinVar Annotator: match by term: Robinow syndrome PMID:29276006 8712514 Fzd2 frizzled class receptor 2 gene DOID:0060765 autosomal dominant Robinow syndrome 2 ISO RGD:732091 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 2 PMID:28492532|PMID:29276006 8712514 Fzd2 frizzled class receptor 2 gene DOID:0060766 autosomal dominant Robinow syndrome 1 ISO RGD:732091 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 1 PMID:29276006 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 20260519 ClinVar ClinVar Annotator: match by term: Autosomal dominant omodysplasia | ClinVar Annotator: match by term: FZD2-related condition | ClinVar Annotator: match by term: OMODYSPLASIA 2 | ClinVar Annotator: match by term: Omodysplasia 2 PMID:19900272|PMID:21525063|PMID:24458798|PMID:25741868|PMID:25759469|PMID:28492532|PMID:29276006|PMID:30455931|PMID:35047859|PMID:36789910|PMID:38967226 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: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:0050387 nonpapillary renal cell carcinoma ISO RGD:1605932 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 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:0050939 uterine corpus endometrial carcinoma ISO RGD:1605932 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8712526 Clptm1l CLPTM1 like gene DOID:10283 prostate cancer ISO RGD:1605932 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prostate cancer PMID:23265383 8712526 Clptm1l CLPTM1 like gene DOID:10283 prostate cancer ISO RGD:1605932 D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 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:10534 stomach cancer ISO RGD:1605932 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 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:1605932 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 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:1909 melanoma ISO RGD:1605932 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 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:4362 cervical cancer ISO RGD:1605932 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 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:5041 esophageal cancer ISO RGD:1605932 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8712526 Clptm1l CLPTM1 like gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1605932 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8712526 Clptm1l CLPTM1 like gene DOID:684 hepatocellular carcinoma ISO RGD:1605932 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 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:9005539 Familial Prostate Cancer ISO RGD:1605932 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial prostate cancer 8712526 Clptm1l CLPTM1 like gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1605932 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 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:9008952 Breast Cancer, Familial ISO RGD:1605932 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8712526 Clptm1l CLPTM1 like gene DOID:9119 acute myeloid leukemia ISO RGD:1605932 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 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 8712549 Med21 mediator complex subunit 21 gene DOID:234 colon adenocarcinoma ISO RGD:1320392 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8712549 Med21 mediator complex subunit 21 gene DOID:4362 cervical cancer ISO RGD:1320392 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8712549 Med21 mediator complex subunit 21 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1320392 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8712557 Tube1 tubulin epsilon 1 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1314442 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8712557 Tube1 tubulin epsilon 1 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1314442 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8712557 Tube1 tubulin epsilon 1 gene DOID:0060058 lymphoma ISO RGD:1314442 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lymphoma 8712557 Tube1 tubulin epsilon 1 gene DOID:10534 stomach cancer ISO RGD:1314442 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8712557 Tube1 tubulin epsilon 1 gene DOID:11054 urinary bladder cancer ISO RGD:1314442 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8712557 Tube1 tubulin epsilon 1 gene DOID:234 colon adenocarcinoma ISO RGD:1314442 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8712557 Tube1 tubulin epsilon 1 gene DOID:4074 pancreatic adenocarcinoma ISO RGD:1314442 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma 8712557 Tube1 tubulin epsilon 1 gene DOID:4947 cholangiocarcinoma ISO RGD:1314442 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 8712557 Tube1 tubulin epsilon 1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1314442 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8712557 Tube1 tubulin epsilon 1 gene DOID:6039 uveal melanoma ISO RGD:1314442 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uveal melanoma 8712557 Tube1 tubulin epsilon 1 gene DOID:6354 chronic lymphocytic leukemia/small lymphocytic lymphoma ISO RGD:1314442 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma 8712557 Tube1 tubulin epsilon 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1314442 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8712557 Tube1 tubulin epsilon 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1314442 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 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 PMID:25741868 8712598 Lrrc7 leucine rich repeat containing 7 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1349743 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Attention deficit hyperactivity disorder PMID:39256359 8712598 Lrrc7 leucine rich repeat containing 7 gene DOID:11054 urinary bladder cancer ISO RGD:1349743 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8712598 Lrrc7 leucine rich repeat containing 7 gene DOID:1909 melanoma ISO RGD:1349743 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 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:9008086 Developmental Disabilities ISO RGD:1349743 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:39256359 8712598 Lrrc7 leucine rich repeat containing 7 gene DOID:9008675 Dyskinesias ISO RGD:1349743 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Involuntary movements PMID:25741868 8712598 Lrrc7 leucine rich repeat containing 7 gene DOID:9970 obesity ISO RGD:1349743 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Obesity PMID:25741868|PMID:39256359 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 8712636 Krr1 KRR1 small subunit processome component gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1314657 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8712636 Krr1 KRR1 small subunit processome component gene DOID:11054 urinary bladder cancer ISO RGD:1314657 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8712636 Krr1 KRR1 small subunit processome component gene DOID:1324 lung cancer ISO RGD:1314657 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8712636 Krr1 KRR1 small subunit processome component gene DOID:1909 melanoma ISO RGD:1314657 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8712636 Krr1 KRR1 small subunit processome component gene DOID:5041 esophageal cancer ISO RGD:1314657 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8712636 Krr1 KRR1 small subunit processome component gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1314657 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8712636 Krr1 KRR1 small subunit processome component gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1314657 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8712636 Krr1 KRR1 small subunit processome component gene DOID:9008952 Breast Cancer, Familial ISO RGD:1314657 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8712636 Krr1 KRR1 small subunit processome component gene DOID:9119 acute myeloid leukemia ISO RGD:1314657 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8712650 Hmox2 heme oxygenase 2 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:68991 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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:11054 urinary bladder cancer ISO RGD:68991 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8712650 Hmox2 heme oxygenase 2 gene DOID:234 colon adenocarcinoma ISO RGD:68991 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8712650 Hmox2 heme oxygenase 2 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:68991 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:68991 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8712650 Hmox2 heme oxygenase 2 gene DOID:9008952 Breast Cancer, Familial ISO RGD:68991 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8712674 LOC102012144 cytochrome b5 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:736806 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8712674 LOC102012144 cytochrome b5 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:736806 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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 20260602 ClinVar ClinVar Annotator: match by term: METHEMOGLOBINEMIA AND AMBIGUOUS GENITALIA PMID:22170710|PMID:25741868 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:3275 thymoma ISO RGD:736806 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma PMID:25741868|PMID:28492532 8712674 LOC102012144 cytochrome b5 gene DOID:4947 cholangiocarcinoma ISO RGD:736806 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma PMID:25741868|PMID:28492532 8712674 LOC102012144 cytochrome b5 gene DOID:5041 esophageal cancer ISO RGD:736806 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8712674 LOC102012144 cytochrome b5 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:736806 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8712674 LOC102012144 cytochrome b5 gene DOID:9005024 Hereditary Adrenocortical Carcinoma ISO RGD:736806 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary PMID:25741868|PMID:28492532 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:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:736806 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8712674 LOC102012144 cytochrome b5 gene DOID:9256 colorectal cancer ISO RGD:736806 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:25741868|PMID:28492532 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:0050387 nonpapillary renal cell carcinoma ISO RGD:1605832 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8712693 Exoc3l1 exocyst complex component 3 like 1 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1605832 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8712693 Exoc3l1 exocyst complex component 3 like 1 gene DOID:10534 stomach cancer ISO RGD:1605832 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8712693 Exoc3l1 exocyst complex component 3 like 1 gene DOID:234 colon adenocarcinoma ISO RGD:1605832 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8712693 Exoc3l1 exocyst complex component 3 like 1 gene DOID:4074 pancreatic adenocarcinoma ISO RGD:1605832 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma 8712693 Exoc3l1 exocyst complex component 3 like 1 gene DOID:4362 cervical cancer ISO RGD:1605832 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8712693 Exoc3l1 exocyst complex component 3 like 1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1605832 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8712693 Exoc3l1 exocyst complex component 3 like 1 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1605832 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8712714 Scube1 signal peptide, CUB domain and EGF like domain containing 1 gene DOID:10534 stomach cancer ISO RGD:1319121 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8712714 Scube1 signal peptide, CUB domain and EGF like domain containing 1 gene DOID:1324 lung cancer ISO RGD:1319121 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8712714 Scube1 signal peptide, CUB domain and EGF like domain containing 1 gene DOID:234 colon adenocarcinoma ISO RGD:1319121 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8712714 Scube1 signal peptide, CUB domain and EGF like domain containing 1 gene DOID:4362 cervical cancer ISO RGD:1319121 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8712714 Scube1 signal peptide, CUB domain and EGF like domain containing 1 gene DOID:5041 esophageal cancer ISO RGD:1319121 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8712714 Scube1 signal peptide, CUB domain and EGF like domain containing 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1319121 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8712714 Scube1 signal peptide, CUB domain and EGF like domain containing 1 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1319121 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8712714 Scube1 signal peptide, CUB domain and EGF like domain containing 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1319121 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8712714 Scube1 signal peptide, CUB domain and EGF like domain containing 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1319121 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8712742 CUNH1orf122 chromosome unknown C1orf122 homolog gene DOID:4362 cervical cancer ISO RGD:1606463 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8712742 CUNH1orf122 chromosome unknown C1orf122 homolog gene DOID:6171 uterine carcinosarcoma ISO RGD:1606463 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8712742 CUNH1orf122 chromosome unknown C1orf122 homolog gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1606463 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8712749 Got1l1 glutamic-oxaloacetic transaminase 1 like 1 gene DOID:1324 lung cancer ISO RGD:1602185 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8712749 Got1l1 glutamic-oxaloacetic transaminase 1 like 1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1602185 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8712749 Got1l1 glutamic-oxaloacetic transaminase 1 like 1 gene DOID:6171 uterine carcinosarcoma ISO RGD:1602185 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8712765 Cfap53 cilia and flagella associated protein 53 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1344036 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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 20260616 ClinVar ClinVar Annotator: match by term: CFAP53-related condition | ClinVar Annotator: match by term: HETEROTAXY, VISCERAL, 6, AUTOSOMAL | ClinVar Annotator: match by term: Heterotaxy, visceral, 6, autosomal PMID:16199547|PMID:17576681|PMID:22577226|PMID:25504577|PMID:25741868|PMID:26531781|PMID:28492532|PMID:37041101|PMID:9536098 8712765 Cfap53 cilia and flagella associated protein 53 gene DOID:10534 stomach cancer ISO RGD:1344036 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8712765 Cfap53 cilia and flagella associated protein 53 gene DOID:1115 sarcoma ISO RGD:1344036 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8712765 Cfap53 cilia and flagella associated protein 53 gene DOID:3275 thymoma ISO RGD:1344036 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8712765 Cfap53 cilia and flagella associated protein 53 gene DOID:5041 esophageal cancer ISO RGD:1344036 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8712765 Cfap53 cilia and flagella associated protein 53 gene DOID:630 genetic disease ISO RGD:1344036 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8712765 Cfap53 cilia and flagella associated protein 53 gene DOID:9007098 Pulmonary Atresia ISO RGD:1344036 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Pulmonary valve atresia 8712765 Cfap53 cilia and flagella associated protein 53 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1344036 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 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 | 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:10534 stomach cancer ISO RGD:1312139 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8712782 Senp5 SUMO specific peptidase 5 gene DOID:11054 urinary bladder cancer ISO RGD:1312139 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8712782 Senp5 SUMO specific peptidase 5 gene DOID:1115 sarcoma ISO RGD:1312139 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8712782 Senp5 SUMO specific peptidase 5 gene DOID:1324 lung cancer ISO RGD:1312139 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8712782 Senp5 SUMO specific peptidase 5 gene DOID:4362 cervical cancer ISO RGD:1312139 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8712782 Senp5 SUMO specific peptidase 5 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1312139 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 8712782 Senp5 SUMO specific peptidase 5 gene DOID:5041 esophageal cancer ISO RGD:1312139 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8712782 Senp5 SUMO specific peptidase 5 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1312139 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8712782 Senp5 SUMO specific peptidase 5 gene DOID:9004083 Familial Pancreatic Carcinoma ISO RGD:1312139 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial pancreatic carcinoma 8712782 Senp5 SUMO specific peptidase 5 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1312139 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8712820 Papln papilin, proteoglycan like sulfated glycoprotein gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1322495 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8712820 Papln papilin, proteoglycan like sulfated glycoprotein gene DOID:10534 stomach cancer ISO RGD:1322495 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8712820 Papln papilin, proteoglycan like sulfated glycoprotein gene DOID:11054 urinary bladder cancer ISO RGD:1322495 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8712820 Papln papilin, proteoglycan like sulfated glycoprotein gene DOID:1324 lung cancer ISO RGD:1322495 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8712820 Papln papilin, proteoglycan like sulfated glycoprotein gene DOID:1909 melanoma ISO RGD:1322495 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8712820 Papln papilin, proteoglycan like sulfated glycoprotein gene DOID:234 colon adenocarcinoma ISO RGD:1322495 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8712820 Papln papilin, proteoglycan like sulfated glycoprotein gene DOID:3275 thymoma ISO RGD:1322495 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8712820 Papln papilin, proteoglycan like sulfated glycoprotein gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1322495 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 8712820 Papln papilin, proteoglycan like sulfated glycoprotein gene DOID:5041 esophageal cancer ISO RGD:1322495 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8712820 Papln papilin, proteoglycan like sulfated glycoprotein gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1322495 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 8712820 Papln papilin, proteoglycan like sulfated glycoprotein gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1322495 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8712820 Papln papilin, proteoglycan like sulfated glycoprotein gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1322495 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8712820 Papln papilin, proteoglycan like sulfated glycoprotein gene DOID:9008952 Breast Cancer, Familial ISO RGD:1322495 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8712820 Papln papilin, proteoglycan like sulfated glycoprotein gene DOID:9119 acute myeloid leukemia ISO RGD:1322495 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8712852 Adat1 adenosine deaminase tRNA specific 1 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1320789 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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: Prostate cancer PMID:23265383 8712852 Adat1 adenosine deaminase tRNA specific 1 gene DOID:10283 prostate cancer ISO RGD:1320789 D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 8712852 Adat1 adenosine deaminase tRNA specific 1 gene DOID:11054 urinary bladder cancer ISO RGD:1320789 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8712852 Adat1 adenosine deaminase tRNA specific 1 gene DOID:1324 lung cancer ISO RGD:1320789 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8712852 Adat1 adenosine deaminase tRNA specific 1 gene DOID:3275 thymoma ISO RGD:1320789 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8712852 Adat1 adenosine deaminase tRNA specific 1 gene DOID:4362 cervical cancer ISO RGD:1320789 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8712852 Adat1 adenosine deaminase tRNA specific 1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1320789 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8712852 Adat1 adenosine deaminase tRNA specific 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1320789 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8712852 Adat1 adenosine deaminase tRNA specific 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1320789 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8712870 Fcrl1 Fc receptor like 1 gene DOID:10534 stomach cancer ISO RGD:1602077 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8712870 Fcrl1 Fc receptor like 1 gene DOID:1324 lung cancer ISO RGD:1602077 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8712870 Fcrl1 Fc receptor like 1 gene DOID:3275 thymoma ISO RGD:1602077 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8712870 Fcrl1 Fc receptor like 1 gene DOID:4362 cervical cancer ISO RGD:1602077 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8712870 Fcrl1 Fc receptor like 1 gene DOID:6354 chronic lymphocytic leukemia/small lymphocytic lymphoma ISO RGD:1602077 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma 8712870 Fcrl1 Fc receptor like 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1602077 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8712895 Pmfbp1 polyamine modulated factor 1 binding protein 1 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1345041 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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 20260602 ClinVar ClinVar Annotator: match by term: PMFBP1-related condition | ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 31 | ClinVar Annotator: match by term: Spermatogenic failure 31 | ClinVar Annotator: match by term: spermatogenic failure 31 PMID:25741868 8712895 Pmfbp1 polyamine modulated factor 1 binding protein 1 gene DOID:11054 urinary bladder cancer ISO RGD:1345041 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8712895 Pmfbp1 polyamine modulated factor 1 binding protein 1 gene DOID:1115 sarcoma ISO RGD:1345041 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 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: Oligozoospermia PMID:25741868|PMID:30032984|PMID:30298696 8712895 Pmfbp1 polyamine modulated factor 1 binding protein 1 gene DOID:1909 melanoma ISO RGD:1345041 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8712895 Pmfbp1 polyamine modulated factor 1 binding protein 1 gene DOID:234 colon adenocarcinoma ISO RGD:1345041 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8712895 Pmfbp1 polyamine modulated factor 1 binding protein 1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1345041 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8712895 Pmfbp1 polyamine modulated factor 1 binding protein 1 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1345041 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8712895 Pmfbp1 polyamine modulated factor 1 binding protein 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1345041 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 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:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1606441 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8712920 Awat2 acyl-CoA wax alcohol acyltransferase 2 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1606441 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 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:4074 pancreatic adenocarcinoma ISO RGD:1349375 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma 8712939 Ssr3 signal sequence receptor subunit 3 gene DOID:4362 cervical cancer ISO RGD:1349375 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8712939 Ssr3 signal sequence receptor subunit 3 gene DOID:4947 cholangiocarcinoma ISO RGD:1349375 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 8712939 Ssr3 signal sequence receptor subunit 3 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1349375 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation 8712939 Ssr3 signal sequence receptor subunit 3 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1349375 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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:1324 lung cancer ISO RGD:1349924 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8712953 Lipn lipase family member N gene DOID:3275 thymoma ISO RGD:1349924 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8712953 Lipn lipase family member N gene DOID:4362 cervical cancer ISO RGD:1349924 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8712953 Lipn lipase family member N gene DOID:5041 esophageal cancer ISO RGD:1349924 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8712953 Lipn lipase family member N gene DOID:9008952 Breast Cancer, Familial ISO RGD:1349924 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8712953 Lipn lipase family member N gene DOID:9119 acute myeloid leukemia ISO RGD:1349924 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8712968 Ube2m ubiquitin conjugating enzyme E2 M gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1316910 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8712968 Ube2m ubiquitin conjugating enzyme E2 M gene DOID:3070 high grade glioma ISO RGD:1316910 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Glioma susceptibility 1 8712968 Ube2m ubiquitin conjugating enzyme E2 M gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1316910 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 8712968 Ube2m ubiquitin conjugating enzyme E2 M gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1316910 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8712968 Ube2m ubiquitin conjugating enzyme E2 M gene DOID:6171 uterine carcinosarcoma ISO RGD:1316910 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8712968 Ube2m ubiquitin conjugating enzyme E2 M gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1316910 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8712968 Ube2m ubiquitin conjugating enzyme E2 M gene DOID:9008952 Breast Cancer, Familial ISO RGD:1316910 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8712981 Ndufa11 NADH:ubiquinone oxidoreductase subunit A11 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1353803 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8712981 Ndufa11 NADH:ubiquinone oxidoreductase subunit A11 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1353803 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF PMID:25741868|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 20260602 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14 | ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 14 | ClinVar Annotator: match by term: NDUFA11-related condition PMID:17576681|PMID:25741868|PMID:28492532|PMID:32712949|PMID:9536098 8712981 Ndufa11 NADH:ubiquinone oxidoreductase subunit A11 gene DOID:10534 stomach cancer ISO RGD:1353803 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Gastric cancer 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 8712981 Ndufa11 NADH:ubiquinone oxidoreductase subunit A11 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1353803 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney PMID:25741868|PMID:28492532 8712981 Ndufa11 NADH:ubiquinone oxidoreductase subunit A11 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1353803 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8712981 Ndufa11 NADH:ubiquinone oxidoreductase subunit A11 gene DOID:9005024 Hereditary Adrenocortical Carcinoma ISO RGD:1353803 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary PMID:25741868|PMID:28492532 8712981 Ndufa11 NADH:ubiquinone oxidoreductase subunit A11 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1353803 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Breast cancer, familial PMID:25741868|PMID:28492532 8712989 Cnrip1 cannabinoid receptor interacting protein 1 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1318105 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8712989 Cnrip1 cannabinoid receptor interacting protein 1 gene DOID:10534 stomach cancer ISO RGD:1318105 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8712989 Cnrip1 cannabinoid receptor interacting protein 1 gene DOID:234 colon adenocarcinoma ISO RGD:1318105 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 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:11054 urinary bladder cancer ISO RGD:735315 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 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:5746 ovarian serous cystadenocarcinoma ISO RGD:735315 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:735315 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 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 8713005 Nmnat3 nicotinamide nucleotide adenylyltransferase 3 gene DOID:4362 cervical cancer ISO RGD:1319314 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8713005 Nmnat3 nicotinamide nucleotide adenylyltransferase 3 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1319314 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8713032 Hsd11b1l hydroxysteroid 11-beta dehydrogenase 1 like gene DOID:3275 thymoma ISO RGD:1605800 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8713032 Hsd11b1l hydroxysteroid 11-beta dehydrogenase 1 like gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1605800 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8713032 Hsd11b1l hydroxysteroid 11-beta dehydrogenase 1 like gene DOID:6171 uterine carcinosarcoma ISO RGD:1605800 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8713044 Bcas4 breast carcinoma amplified sequence 4 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1352594 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8713044 Bcas4 breast carcinoma amplified sequence 4 gene DOID:1115 sarcoma ISO RGD:1352594 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8713044 Bcas4 breast carcinoma amplified sequence 4 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1352594 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8713044 Bcas4 breast carcinoma amplified sequence 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1352594 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8713054 Adss1 adenylosuccinate synthase 1 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1351020 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8713054 Adss1 adenylosuccinate synthase 1 gene DOID:0060260 ptosis ISO RGD:1351020 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ptosis PMID:25741868|PMID:26506222|PMID:28492532|PMID:32331917 8713054 Adss1 adenylosuccinate synthase 1 gene DOID:0111193 facioscapulohumeral muscular dystrophy 2 ISO RGD:1351020 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Weakness of facial musculature PMID:25741868|PMID:26506222|PMID:28492532|PMID:32331917 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 sequence 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:11720 distal myopathy ISO RGD:1351020 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Distal muscle weakness PMID:25741868|PMID:26506222|PMID:28492532|PMID:32331917 8713054 Adss1 adenylosuccinate synthase 1 gene DOID:12895 keratoconjunctivitis sicca ISO RGD:1351020 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Keratoconjunctivitis sicca PMID:25741868|PMID:26506222|PMID:28492532|PMID:32331917 8713054 Adss1 adenylosuccinate synthase 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1351020 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:26506222|PMID:28492532|PMID:32331917 8713054 Adss1 adenylosuccinate synthase 1 gene DOID:13934 facial paralysis ISO RGD:1351020 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Facial palsy PMID:25741868|PMID:26506222|PMID:28492532|PMID:32331917 8713054 Adss1 adenylosuccinate synthase 1 gene DOID:529 blepharospasm ISO RGD:1351020 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Blepharospasm PMID:25741868|PMID:26506222|PMID:28492532|PMID:32331917 8713054 Adss1 adenylosuccinate synthase 1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1351020 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8713054 Adss1 adenylosuccinate synthase 1 gene DOID:630 genetic disease ISO RGD:1351020 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 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 20260602 ClinVar ClinVar Annotator: match by term: ADSS1-related condition | ClinVar Annotator: match by term: MYOPATHY, DISTAL, 5 | ClinVar Annotator: match by term: Myopathy, distal, 5 | ClinVar Annotator: match by term: myopathy, distal, 5 PMID:25741868|PMID:26506222|PMID:27868399|PMID:28268051|PMID:28492532|PMID:32331917 8713054 Adss1 adenylosuccinate synthase 1 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1351020 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8713054 Adss1 adenylosuccinate synthase 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1351020 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8713054 Adss1 adenylosuccinate synthase 1 gene DOID:9884 muscular dystrophy ISO RGD:1351020 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:25741868|PMID:26506222|PMID:28492532|PMID:32331917 8713073 Zbtb49 zinc finger and BTB domain containing 49 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1315520 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8713073 Zbtb49 zinc finger and BTB domain containing 49 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1315520 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8713073 Zbtb49 zinc finger and BTB domain containing 49 gene DOID:5041 esophageal cancer ISO RGD:1315520 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8713073 Zbtb49 zinc finger and BTB domain containing 49 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1315520 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8713073 Zbtb49 zinc finger and BTB domain containing 49 gene DOID:9004083 Familial Pancreatic Carcinoma ISO RGD:1315520 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial pancreatic carcinoma 8713097 CUNH19orf18 chromosome unknown C19orf18 homolog gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1342903 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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 8713097 CUNH19orf18 chromosome unknown C19orf18 homolog gene DOID:4947 cholangiocarcinoma ISO RGD:1342903 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 8713097 CUNH19orf18 chromosome unknown C19orf18 homolog gene DOID:5041 esophageal cancer ISO RGD:1342903 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8713097 CUNH19orf18 chromosome unknown C19orf18 homolog gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1342903 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8713097 CUNH19orf18 chromosome unknown C19orf18 homolog gene DOID:684 hepatocellular carcinoma ISO RGD:1342903 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8713107 Toe1 target of EGR1, exonuclease gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1319240 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 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 20260602 ClinVar ClinVar Annotator: match by term: PONTOCEREBELLAR HYPOPLASIA, TYPE 7 | ClinVar Annotator: match by term: Pontocerebellar Hypoplasia Type 7 | ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 7 | ClinVar Annotator: match by term: TOE1-related condition PMID:17576681|PMID:25741868|PMID:28092684|PMID:28492532|PMID:9536098 8713107 Toe1 target of EGR1, exonuclease gene DOID:1324 lung cancer ISO RGD:1319240 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: EGFR-related lung cancer 8713107 Toe1 target of EGR1, exonuclease gene DOID:1909 melanoma ISO RGD:1319240 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8713107 Toe1 target of EGR1, exonuclease gene DOID:4362 cervical cancer ISO RGD:1319240 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8713107 Toe1 target of EGR1, exonuclease gene DOID:480 movement disease ISO RGD:1319240 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Movement disorder 8713107 Toe1 target of EGR1, exonuclease gene DOID:5041 esophageal cancer ISO RGD:1319240 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8713107 Toe1 target of EGR1, exonuclease gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1319240 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8713107 Toe1 target of EGR1, exonuclease gene DOID:630 genetic disease ISO RGD:1319240 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8713107 Toe1 target of EGR1, exonuclease gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1319240 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 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 20250506 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:15180946|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:9008952 Breast Cancer, Familial ISO RGD:1319240 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 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:10534 stomach cancer ISO RGD:1322301 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8713124 Mbd6 methyl-CpG binding domain protein 6 gene DOID:11054 urinary bladder cancer ISO RGD:1322301 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8713124 Mbd6 methyl-CpG binding domain protein 6 gene DOID:1115 sarcoma ISO RGD:1322301 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8713124 Mbd6 methyl-CpG binding domain protein 6 gene DOID:1909 melanoma ISO RGD:1322301 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8713124 Mbd6 methyl-CpG binding domain protein 6 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1322301 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 8713124 Mbd6 methyl-CpG binding domain protein 6 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1322301 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8713124 Mbd6 methyl-CpG binding domain protein 6 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1322301 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8713124 Mbd6 methyl-CpG binding domain protein 6 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1322301 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8713164 Prss56 serine protease 56 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:5128927 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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 20260602 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 6 | ClinVar Annotator: match by term: MICROPHTHALMIA, ISOLATED 6 | ClinVar Annotator: match by term: MICROPHTHALMIA, POSTERIOR NONSYNDROMIC | ClinVar Annotator: match by term: Microphthalmia, isolated 6 | ClinVar Annotator: match by term: PRSS56-related condition 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:29450879|PMID:31266062|PMID:31992737|PMID:32052405|PMID:32830442|PMID:32996714|PMID:33203948|PMID:35610621|PMID:38749530|PMID:9536098 8713164 Prss56 serine protease 56 gene DOID:0080634 nanophthalmos ISO RGD:5128927 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nanophthalmia PMID:25741868 8713164 Prss56 serine protease 56 gene DOID:10534 stomach cancer ISO RGD:5128927 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:25741868 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:1620006 D RGD:9068941 20250626 MouseDO 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:5746 ovarian serous cystadenocarcinoma ISO RGD:5128927 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8713164 Prss56 serine protease 56 gene DOID:630 genetic disease ISO RGD:5128927 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8713164 Prss56 serine protease 56 gene DOID:9834 hyperopia ISO RGD:5128927 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hypermetropia PMID:25741868 8713181 Mafb MAF bZIP transcription factor B gene DOID:0060949 3-hydroxyisobutryl-CoA hydrolase deficiency ISO RGD:732545 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: 3-hydroxyisobutyryl-CoA hydrolase deficiency PMID:25741868 8713181 Mafb MAF bZIP transcription factor B gene DOID:0061028 Duane retraction syndrome 2 ISO RGD:732545 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Duane retraction syndrome 2 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 20260519 ClinVar ClinVar Annotator: match by term: DUANE RETRACTION SYNDROME 3 | ClinVar Annotator: match by term: Duane retraction syndrome 3 with or without deafness PMID:22387013|PMID:23956186|PMID:24989131|PMID:25741868|PMID:27181683|PMID:27385948|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 20260519 ClinVar ClinVar Annotator: match by term: Carpal osteolysis | ClinVar Annotator: match by term: MAFB-related condition | ClinVar Annotator: match by term: MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME | ClinVar Annotator: match by term: Multicentric carpo-tarsal osteolysis with or without nephropathy | ClinVar Annotator: match by term: OSTEOLYSIS, HEREDITARY, OF CARPAL BONES WITH OR WITHOUT NEPHROPATHY PMID:20436469|PMID:22387013|PMID:23956186|PMID:24989131|PMID:25741868|PMID:27385948|PMID:28492532|PMID:29675035|PMID:30208859|PMID:34722426 8713181 Mafb MAF bZIP transcription factor B gene DOID:1059 intellectual disability ISO RGD:732545 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Severe intellectual disability 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:1826 epilepsy ISO RGD:732545 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Seizures PMID:22387013|PMID:24989131|PMID:28492532 8713181 Mafb MAF bZIP transcription factor B gene DOID:576 proteinuria ISO RGD:732545 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Proteinuria PMID:25741868 8713181 Mafb MAF bZIP transcription factor B gene DOID:630 genetic disease ISO RGD:732545 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8713181 Mafb MAF bZIP transcription factor B gene DOID:9002008 BROWN SYNDROME ISO RGD:732545 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Brown syndrome PMID:25741868 8713181 Mafb MAF bZIP transcription factor B gene DOID:9005616 Micrognathism ISO RGD:732545 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Micrognathia PMID:25741868 8713181 Mafb MAF bZIP transcription factor B gene DOID:9008305 Talipes Cavus ISO RGD:732545 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Pes cavus PMID:25741868 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: Prostate cancer PMID:23265383 8713191 Prex2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 gene DOID:10283 prostate cancer ISO RGD:1317307 D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 8713191 Prex2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 gene DOID:10534 stomach cancer ISO RGD:1317307 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8713191 Prex2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 gene DOID:11054 urinary bladder cancer ISO RGD:1317307 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8713191 Prex2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 gene DOID:1115 sarcoma ISO RGD:1317307 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8713191 Prex2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 gene DOID:14566 disease of cellular proliferation ISO RGD:1317307 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Neoplasm PMID:22622578|PMID:35101336 8713191 Prex2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 gene DOID:1909 melanoma ISO RGD:1317307 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma PMID:22622578|PMID:26359337|PMID:27993330 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:3275 thymoma ISO RGD:1317307 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 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:4362 cervical cancer ISO RGD:1317307 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8713191 Prex2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1317307 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 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:5041 esophageal cancer ISO RGD:1317307 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 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 20260602 ClinVar ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 8713191 Prex2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1317307 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8713191 Prex2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 gene DOID:6171 uterine carcinosarcoma ISO RGD:1317307 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 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 8713191 Prex2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 gene DOID:9001276 Failure to Thrive ISO RGD:1317307 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Failure to thrive 8713191 Prex2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 gene DOID:9005603 Muscle Hypotonia ISO RGD:1317307 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Generalized hypotonia 8713191 Prex2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1317307 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8713235 Nckap1l NCK associated protein 1 like gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1323803 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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 20260602 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION AND LYMPHOPROLIFERATION | ClinVar Annotator: match by term: Immunodeficiency 72 with autoinflammation | ClinVar Annotator: match by term: NCKAP1L-related condition PMID:25741868|PMID:28492532|PMID:32647003|PMID:35753512 8713235 Nckap1l NCK associated protein 1 like gene DOID:10534 stomach cancer ISO RGD:1323803 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8713235 Nckap1l NCK associated protein 1 like gene DOID:1115 sarcoma ISO RGD:1323803 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8713235 Nckap1l NCK associated protein 1 like gene DOID:1909 melanoma ISO RGD:1323803 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8713235 Nckap1l NCK associated protein 1 like gene DOID:3275 thymoma ISO RGD:1323803 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8713235 Nckap1l NCK associated protein 1 like gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1323803 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 8713235 Nckap1l NCK associated protein 1 like gene DOID:4947 cholangiocarcinoma ISO RGD:1323803 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 8713235 Nckap1l NCK associated protein 1 like gene DOID:5041 esophageal cancer ISO RGD:1323803 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 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 8713235 Nckap1l NCK associated protein 1 like gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1323803 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8713235 Nckap1l NCK associated protein 1 like gene DOID:9008952 Breast Cancer, Familial ISO RGD:1323803 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8713287 Krt18 keratin 18 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:735767 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8713287 Krt18 keratin 18 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:735767 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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:10534 stomach cancer ISO RGD:735767 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 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:1324 lung cancer ISO RGD:735767 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 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:5746 ovarian serous cystadenocarcinoma ISO RGD:735767 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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: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:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:735767 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 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:8554872 20250729 ClinVar ClinVar Annotator: match by term: Cirrhosis, familial PMID:25741868 8713287 Krt18 keratin 18 gene DOID:9007543 Familial Cirrhosis susceptibility ISO RGD:735767 D RGD:7240710 20260617 OMIM 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 8713287 Krt18 keratin 18 gene DOID:9008952 Breast Cancer, Familial ISO RGD:735767 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8713303 Map3k15 mitogen-activated protein kinase kinase kinase 15 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1345894 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8713303 Map3k15 mitogen-activated protein kinase kinase kinase 15 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1345894 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8713303 Map3k15 mitogen-activated protein kinase kinase kinase 15 gene DOID:10534 stomach cancer ISO RGD:1345894 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8713303 Map3k15 mitogen-activated protein kinase kinase kinase 15 gene DOID:1115 sarcoma ISO RGD:1345894 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8713303 Map3k15 mitogen-activated protein kinase kinase kinase 15 gene DOID:234 colon adenocarcinoma ISO RGD:1345894 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8713303 Map3k15 mitogen-activated protein kinase kinase kinase 15 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1345894 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma 8713303 Map3k15 mitogen-activated protein kinase kinase kinase 15 gene DOID:4362 cervical cancer ISO RGD:1345894 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8713303 Map3k15 mitogen-activated protein kinase kinase kinase 15 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1345894 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 8713303 Map3k15 mitogen-activated protein kinase kinase kinase 15 gene DOID:4947 cholangiocarcinoma ISO RGD:1345894 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 8713303 Map3k15 mitogen-activated protein kinase kinase kinase 15 gene DOID:5041 esophageal cancer ISO RGD:1345894 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8713303 Map3k15 mitogen-activated protein kinase kinase kinase 15 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1345894 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1345894 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8713303 Map3k15 mitogen-activated protein kinase kinase kinase 15 gene DOID:9119 acute myeloid leukemia ISO RGD:1345894 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8713303 Map3k15 mitogen-activated protein kinase kinase kinase 15 gene DOID:9256 colorectal cancer ISO RGD:1345894 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colorectal cancer 8713347 Eef1akmt1 EEF1A lysine methyltransferase 1 gene DOID:3070 high grade glioma ISO RGD:1606676 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Glioma susceptibility 1 8713347 Eef1akmt1 EEF1A lysine methyltransferase 1 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1606676 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma 8713347 Eef1akmt1 EEF1A lysine methyltransferase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1606676 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8713347 Eef1akmt1 EEF1A lysine methyltransferase 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1606676 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8713356 Unk unk zinc finger gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1319446 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8713356 Unk unk zinc finger gene DOID:10534 stomach cancer ISO RGD:1319446 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8713356 Unk unk zinc finger gene DOID:1115 sarcoma ISO RGD:1319446 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8713356 Unk unk zinc finger gene DOID:234 colon adenocarcinoma ISO RGD:1319446 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8713356 Unk unk zinc finger gene DOID:4362 cervical cancer ISO RGD:1319446 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8713356 Unk unk zinc finger gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1319446 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8713356 Unk unk zinc finger gene DOID:684 hepatocellular carcinoma ISO RGD:1319446 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8713356 Unk unk zinc finger gene DOID:9008952 Breast Cancer, Familial ISO RGD:1319446 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8713356 Unk unk zinc finger gene DOID:9119 acute myeloid leukemia ISO RGD:1319446 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8713386 Eif3k eukaryotic translation initiation factor 3 subunit K gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1342979 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8713386 Eif3k eukaryotic translation initiation factor 3 subunit K gene DOID:10534 stomach cancer ISO RGD:1342979 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8713386 Eif3k eukaryotic translation initiation factor 3 subunit K gene DOID:1909 melanoma ISO RGD:1342979 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8713386 Eif3k eukaryotic translation initiation factor 3 subunit K gene DOID:3907 lung squamous cell carcinoma ISO RGD:1342979 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma 8713386 Eif3k eukaryotic translation initiation factor 3 subunit K gene DOID:5041 esophageal cancer ISO RGD:1342979 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8713386 Eif3k eukaryotic translation initiation factor 3 subunit K gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1342979 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8713386 Eif3k eukaryotic translation initiation factor 3 subunit K gene DOID:684 hepatocellular carcinoma ISO RGD:1342979 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8713386 Eif3k eukaryotic translation initiation factor 3 subunit K gene DOID:9008952 Breast Cancer, Familial ISO RGD:1342979 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8713386 Eif3k eukaryotic translation initiation factor 3 subunit K gene DOID:9119 acute myeloid leukemia ISO RGD:1342979 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8713405 Iqce IQ motif containing E gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1350439 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8713405 Iqce IQ motif containing E gene DOID:10534 stomach cancer ISO RGD:1350439 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8713405 Iqce IQ motif containing E gene DOID:11830 myopia ISO RGD:1350439 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Myopia PMID:25741868 8713405 Iqce IQ motif containing E gene DOID:1324 lung cancer ISO RGD:1350439 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8713405 Iqce IQ motif containing E gene DOID:234 colon adenocarcinoma ISO RGD:1350439 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8713405 Iqce IQ motif containing E gene DOID:3275 thymoma ISO RGD:1350439 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8713405 Iqce IQ motif containing E gene DOID:3907 lung squamous cell carcinoma ISO RGD:1350439 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma 8713405 Iqce IQ motif containing E gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1350439 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 8713405 Iqce IQ motif containing E gene DOID:5041 esophageal cancer ISO RGD:1350439 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8713405 Iqce IQ motif containing E gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1350439 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 8713405 Iqce IQ motif containing E gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1350439 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8713405 Iqce IQ motif containing E gene DOID:6171 uterine carcinosarcoma ISO RGD:1350439 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 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:684 hepatocellular carcinoma ISO RGD:1350439 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8713405 Iqce IQ motif containing E gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1350439 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8713405 Iqce IQ motif containing E gene DOID:9008952 Breast Cancer, Familial ISO RGD:1350439 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 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 | 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:0050939 uterine corpus endometrial carcinoma ISO RGD:731256 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma PMID:25741868 8713447 Eif2b2 eukaryotic translation initiation factor 2B subunit beta gene DOID:0060868 leukoencephalopathy with vanishing white matter ISO RGD:731256 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter PMID:11704758|PMID:12707859|PMID:15054402|PMID:16199547|PMID:19625339|PMID:21484434|PMID:21560189|PMID:22992991|PMID:25031760|PMID:25741868|PMID:25761052|PMID:25843247|PMID:26740508|PMID:28041799|PMID:28492532|PMID:29700822|PMID:29706645|PMID:31438897|PMID:34745209 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 20260519 ClinVar ClinVar Annotator: match by term: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 2 | ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 2 PMID:11704758|PMID:12707859|PMID:14566705|PMID:14993275|PMID:15054402|PMID:15060152|PMID:15776425|PMID:16199547|PMID:18263758|PMID:18519871|PMID:19625339|PMID:21307862|PMID:21484434|PMID:21560189|PMID:22128017|PMID:22430157|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 8713447 Eif2b2 eukaryotic translation initiation factor 2B subunit beta gene DOID:0070374 leukoencephalopathy with vanishing white matter 1 ISO RGD:731256 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 1 PMID:14566705|PMID:15776425|PMID:18263758|PMID:21307862|PMID:21560189|PMID:22128017|PMID:22430157|PMID:24033266|PMID:25741868|PMID:25761052|PMID:26740508|PMID:27159321|PMID:28492532|PMID:30266093|PMID:33432707|PMID:34745209|PMID:35897042 8713447 Eif2b2 eukaryotic translation initiation factor 2B subunit beta gene DOID:10534 stomach cancer ISO RGD:731256 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8713447 Eif2b2 eukaryotic translation initiation factor 2B subunit beta gene DOID:1115 sarcoma ISO RGD:731256 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma PMID:25741868 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:1324 lung cancer ISO RGD:731256 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8713447 Eif2b2 eukaryotic translation initiation factor 2B subunit beta gene DOID:1909 melanoma ISO RGD:731256 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8713447 Eif2b2 eukaryotic translation initiation factor 2B subunit beta gene DOID:3275 thymoma ISO RGD:731256 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma PMID:25741868 8713447 Eif2b2 eukaryotic translation initiation factor 2B subunit beta gene DOID:3883 Lynch syndrome ISO RGD:11548303 D RGD:9068941 20250724 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:25741868 8713447 Eif2b2 eukaryotic translation initiation factor 2B subunit beta gene DOID:4467 clear cell renal cell carcinoma ISO RGD:731256 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney PMID:11704758|PMID:12707859|PMID:16199547|PMID:25741868|PMID:28492532 8713447 Eif2b2 eukaryotic translation initiation factor 2B subunit beta gene DOID:5041 esophageal cancer ISO RGD:731256 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus PMID:25741868|PMID:28492532 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:5746 ovarian serous cystadenocarcinoma ISO RGD:731256 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma PMID:25741868 8713447 Eif2b2 eukaryotic translation initiation factor 2B subunit beta gene DOID:6171 uterine carcinosarcoma ISO RGD:731256 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma PMID:25741868 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 20260519 ClinVar ClinVar Annotator: match by term: CACH/VWM syndrome PMID:11704758|PMID:12707859|PMID:15054402|PMID:16199547|PMID:19625339|PMID:21484434|PMID:21560189|PMID:22992991|PMID:25031760|PMID:25741868|PMID:25761052|PMID:25843247|PMID:26740508|PMID:28041799|PMID:28492532|PMID:29700822|PMID:29706645|PMID:31438897|PMID:34745209 8713447 Eif2b2 eukaryotic translation initiation factor 2B subunit beta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731256 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 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:9004866 Ataxia ISO RGD:731256 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ataxia 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:9006534 Nervous System Malformations ISO RGD:731256 D RGD:8554872 20260519 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:29706645|PMID:31438897|PMID:33432707|PMID:34745209|PMID:35897042 8713447 Eif2b2 eukaryotic translation initiation factor 2B subunit beta gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:731256 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8713447 Eif2b2 eukaryotic translation initiation factor 2B subunit beta gene DOID:9007428 Muscle Spasticity ISO RGD:731256 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Spasticity 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:9008952 Breast Cancer, Familial ISO RGD:731256 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8713459 Rab20 RAB20, member RAS oncogene family gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1315116 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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 8713466 Dmtf1 cyclin D binding myb like transcription factor 1 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:736177 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8713466 Dmtf1 cyclin D binding myb like transcription factor 1 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:736177 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8713466 Dmtf1 cyclin D binding myb like transcription factor 1 gene DOID:10534 stomach cancer ISO RGD:736177 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8713466 Dmtf1 cyclin D binding myb like transcription factor 1 gene DOID:11054 urinary bladder cancer ISO RGD:736177 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8713466 Dmtf1 cyclin D binding myb like transcription factor 1 gene DOID:1324 lung cancer ISO RGD:736177 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8713466 Dmtf1 cyclin D binding myb like transcription factor 1 gene DOID:1909 melanoma ISO RGD:736177 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8713466 Dmtf1 cyclin D binding myb like transcription factor 1 gene DOID:234 colon adenocarcinoma ISO RGD:736177 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8713466 Dmtf1 cyclin D binding myb like transcription factor 1 gene DOID:3070 high grade glioma ISO RGD:736177 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Glioma susceptibility 1 8713466 Dmtf1 cyclin D binding myb like transcription factor 1 gene DOID:3907 lung squamous cell carcinoma ISO RGD:736177 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma 8713466 Dmtf1 cyclin D binding myb like transcription factor 1 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:736177 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 8713466 Dmtf1 cyclin D binding myb like transcription factor 1 gene DOID:5041 esophageal cancer ISO RGD:736177 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8713466 Dmtf1 cyclin D binding myb like transcription factor 1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:736177 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8713466 Dmtf1 cyclin D binding myb like transcription factor 1 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:736177 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8713466 Dmtf1 cyclin D binding myb like transcription factor 1 gene DOID:9119 acute myeloid leukemia ISO RGD:736177 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8713491 Galnt5 polypeptide N-acetylgalactosaminyltransferase 5 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:737016 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8713491 Galnt5 polypeptide N-acetylgalactosaminyltransferase 5 gene DOID:10534 stomach cancer ISO RGD:737016 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8713491 Galnt5 polypeptide N-acetylgalactosaminyltransferase 5 gene DOID:1115 sarcoma ISO RGD:737016 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8713491 Galnt5 polypeptide N-acetylgalactosaminyltransferase 5 gene DOID:1324 lung cancer ISO RGD:737016 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8713491 Galnt5 polypeptide N-acetylgalactosaminyltransferase 5 gene DOID:5041 esophageal cancer ISO RGD:737016 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8713491 Galnt5 polypeptide N-acetylgalactosaminyltransferase 5 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:737016 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8713491 Galnt5 polypeptide N-acetylgalactosaminyltransferase 5 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:737016 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8713505 Gpr37 G protein-coupled receptor 37 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:735262 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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:5041 esophageal cancer ISO RGD:735262 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8713505 Gpr37 G protein-coupled receptor 37 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:735262 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8713505 Gpr37 G protein-coupled receptor 37 gene DOID:6171 uterine carcinosarcoma ISO RGD:735262 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8713505 Gpr37 G protein-coupled receptor 37 gene DOID:9008952 Breast Cancer, Familial ISO RGD:735262 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8713511 Greb1l GREB1 like retinoic acid receptor coactivator gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1351643 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8713511 Greb1l GREB1 like retinoic acid receptor coactivator gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1351643 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8713511 Greb1l GREB1 like retinoic acid receptor coactivator gene DOID:0060232 branchiootic syndrome ISO RGD:1351643 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Inner ear Malformation 8713511 Greb1l GREB1 like retinoic acid receptor coactivator gene DOID:0060250 idiopathic scoliosis ISO RGD:1351643 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Scoliosis, isolated, susceptibility to, 1 PMID:25741868|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 20260519 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 80 PMID:25741868|PMID:28492532 8713511 Greb1l GREB1 like retinoic acid receptor coactivator gene DOID:0080205 congenital anomalies of the kidney and urinary tract ISO RGD:1351643 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Multicystic kidney dysplasia PMID:25741868 8713511 Greb1l GREB1 like retinoic acid receptor coactivator gene DOID:0112177 Mayer-Rokitansky-Kuster-Hauser syndrome ISO RGD:1351643 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Aplasia of the uterus PMID:25741868 8713511 Greb1l GREB1 like retinoic acid receptor coactivator gene DOID:0112178 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 ISO RGD:1351643 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Mayer Rokitansky Kuster Hauser syndrome type 1 PMID:25741868 8713511 Greb1l GREB1 like retinoic acid receptor coactivator gene DOID:1059 intellectual disability ISO RGD:1351643 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8713511 Greb1l GREB1 like retinoic acid receptor coactivator gene DOID:1148 polydactyly ISO RGD:1351643 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Polydactyly PMID:25741868|PMID:28492532|PMID:32378186 8713511 Greb1l GREB1 like retinoic acid receptor coactivator gene DOID:12215 oligohydramnios ISO RGD:1351643 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Anhydramnios PMID:25741868|PMID:35005812 8713511 Greb1l GREB1 like retinoic acid receptor coactivator gene DOID:14766 renal agenesis ISO RGD:1351643 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Bilateral renal agenesis PMID:25741868 8713511 Greb1l GREB1 like retinoic acid receptor coactivator gene DOID:5041 esophageal cancer ISO RGD:1351643 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8713511 Greb1l GREB1 like retinoic acid receptor coactivator gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1351643 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8713511 Greb1l GREB1 like retinoic acid receptor coactivator gene DOID:9003763 Renal Hypodysplasia/Aplasia 1 ISO RGD:1351643 D RGD:8554872 20250722 ClinVar ClinVar Annotator: match by term: Renal agenesis and hypodysplasia PMID:28492532|PMID:29100090 8713511 Greb1l GREB1 like retinoic acid receptor coactivator gene DOID:9004538 Hearing Loss ISO RGD:1351643 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:25741868 8713511 Greb1l GREB1 like retinoic acid receptor coactivator gene DOID:9005988 Multicystic Dysplastic Kidney ISO RGD:1351643 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Multicystic kidney dysplasia PMID:25741868 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 20260609 ClinVar ClinVar Annotator: match by term: GREB1L-related condition | ClinVar Annotator: match by term: RENAL HYPODYSPLASIA/APLASIA 3 | ClinVar Annotator: match by term: Renal hypodysplasia/aplasia 3 PMID:25741868|PMID:28492532|PMID:28739660|PMID:29100090|PMID:29100091|PMID:30143558|PMID:32378186|PMID:32585897|PMID:32598191|PMID:33532864|PMID:34906515|PMID:35005812|PMID:36371238|PMID:38309594 8713511 Greb1l GREB1 like retinoic acid receptor coactivator gene DOID:9119 acute myeloid leukemia ISO RGD:1351643 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 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:0051061 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: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: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:3275 thymoma ISO RGD:1343858 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 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:5746 ovarian serous cystadenocarcinoma ISO RGD:1343858 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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: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: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 8713593 Cmas cytidine monophosphate N-acetylneuraminic acid synthetase gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1322088 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8713593 Cmas cytidine monophosphate N-acetylneuraminic acid synthetase gene DOID:10534 stomach cancer ISO RGD:1322088 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8713593 Cmas cytidine monophosphate N-acetylneuraminic acid synthetase gene DOID:11054 urinary bladder cancer ISO RGD:1322088 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8713593 Cmas cytidine monophosphate N-acetylneuraminic acid synthetase gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1322089 D RGD:9068941 20220825 MouseDO 8713593 Cmas cytidine monophosphate N-acetylneuraminic acid synthetase gene DOID:1324 lung cancer ISO RGD:1322088 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8713593 Cmas cytidine monophosphate N-acetylneuraminic acid synthetase gene DOID:234 colon adenocarcinoma ISO RGD:1322088 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8713593 Cmas cytidine monophosphate N-acetylneuraminic acid synthetase gene DOID:4947 cholangiocarcinoma ISO RGD:1322088 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 8713593 Cmas cytidine monophosphate N-acetylneuraminic acid synthetase gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1322088 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8713593 Cmas cytidine monophosphate N-acetylneuraminic acid synthetase gene DOID:9119 acute myeloid leukemia ISO RGD:1322088 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8713605 Ebna1bp2 EBNA1 binding protein 2 gene DOID:11054 urinary bladder cancer ISO RGD:1313990 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8713605 Ebna1bp2 EBNA1 binding protein 2 gene DOID:1909 melanoma ISO RGD:1313990 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8713605 Ebna1bp2 EBNA1 binding protein 2 gene DOID:2394 ovarian cancer ISO RGD:1313990 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian cancer 8713605 Ebna1bp2 EBNA1 binding protein 2 gene DOID:4362 cervical cancer ISO RGD:1313990 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8713605 Ebna1bp2 EBNA1 binding protein 2 gene DOID:4947 cholangiocarcinoma ISO RGD:1313990 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 8713605 Ebna1bp2 EBNA1 binding protein 2 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1313990 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 8713605 Ebna1bp2 EBNA1 binding protein 2 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1313990 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8713605 Ebna1bp2 EBNA1 binding protein 2 gene DOID:6171 uterine carcinosarcoma ISO RGD:1313990 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8713605 Ebna1bp2 EBNA1 binding protein 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1313990 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8713605 Ebna1bp2 EBNA1 binding protein 2 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1313990 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8713605 Ebna1bp2 EBNA1 binding protein 2 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1313990 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8713618 Mtfr1 mitochondrial fission regulator 1 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1605712 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8713618 Mtfr1 mitochondrial fission regulator 1 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1605712 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8713618 Mtfr1 mitochondrial fission regulator 1 gene DOID:1909 melanoma ISO RGD:1605712 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8713618 Mtfr1 mitochondrial fission regulator 1 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1605712 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 8713618 Mtfr1 mitochondrial fission regulator 1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1605712 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8713618 Mtfr1 mitochondrial fission regulator 1 gene DOID:6354 chronic lymphocytic leukemia/small lymphocytic lymphoma ISO RGD:1605712 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma 8713618 Mtfr1 mitochondrial fission regulator 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1605712 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8713618 Mtfr1 mitochondrial fission regulator 1 gene DOID:9004083 Familial Pancreatic Carcinoma ISO RGD:1605712 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial pancreatic carcinoma 8713631 Tspan15 tetraspanin 15 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1351907 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8713631 Tspan15 tetraspanin 15 gene DOID:10534 stomach cancer ISO RGD:1351907 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8713631 Tspan15 tetraspanin 15 gene DOID:11054 urinary bladder cancer ISO RGD:1351907 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8713631 Tspan15 tetraspanin 15 gene DOID:1115 sarcoma ISO RGD:1351907 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8713631 Tspan15 tetraspanin 15 gene DOID:3070 high grade glioma ISO RGD:1351907 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Glioma susceptibility 1 8713631 Tspan15 tetraspanin 15 gene DOID:4362 cervical cancer ISO RGD:1351907 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8713631 Tspan15 tetraspanin 15 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1351907 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8713631 Tspan15 tetraspanin 15 gene DOID:6171 uterine carcinosarcoma ISO RGD:1351907 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8713631 Tspan15 tetraspanin 15 gene DOID:684 hepatocellular carcinoma ISO RGD:1351907 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8713631 Tspan15 tetraspanin 15 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1351907 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8713631 Tspan15 tetraspanin 15 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1351907 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8713648 Plk1 polo like kinase 1 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1353801 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 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:10534 stomach cancer ISO RGD:1353801 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8713648 Plk1 polo like kinase 1 gene DOID:11054 urinary bladder cancer ISO RGD:1353801 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 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:1324 lung cancer ISO RGD:1353801 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8713648 Plk1 polo like kinase 1 gene DOID:1909 melanoma ISO RGD:1353801 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 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:3907 lung squamous cell carcinoma ISO RGD:1353801 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma 8713648 Plk1 polo like kinase 1 gene DOID:5041 esophageal cancer ISO RGD:1353801 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8713648 Plk1 polo like kinase 1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1353801 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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:9256 colorectal cancer ISO RGD:1353801 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colorectal cancer 8713666 Gjb7 gap junction protein beta 7 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1346461 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8713666 Gjb7 gap junction protein beta 7 gene DOID:6171 uterine carcinosarcoma ISO RGD:1346461 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8713676 Apex2 apurinic/apyrimidinic endodeoxyribonuclease 2 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1350631 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8713676 Apex2 apurinic/apyrimidinic endodeoxyribonuclease 2 gene DOID:1115 sarcoma ISO RGD:1350631 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8713676 Apex2 apurinic/apyrimidinic endodeoxyribonuclease 2 gene DOID:1324 lung cancer ISO RGD:1350631 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8713676 Apex2 apurinic/apyrimidinic endodeoxyribonuclease 2 gene DOID:1909 melanoma ISO RGD:1350631 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8713676 Apex2 apurinic/apyrimidinic endodeoxyribonuclease 2 gene DOID:5041 esophageal cancer ISO RGD:1350631 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8713676 Apex2 apurinic/apyrimidinic endodeoxyribonuclease 2 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1350631 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8713676 Apex2 apurinic/apyrimidinic endodeoxyribonuclease 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1350631 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8713676 Apex2 apurinic/apyrimidinic endodeoxyribonuclease 2 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1350631 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 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:0050939 uterine corpus endometrial carcinoma ISO RGD:1318263 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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:10534 stomach cancer ISO RGD:1318263 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8713691 Mybl2 MYB proto-oncogene like 2 gene DOID:11054 urinary bladder cancer ISO RGD:1318263 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8713691 Mybl2 MYB proto-oncogene like 2 gene DOID:1324 lung cancer ISO RGD:1318263 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8713691 Mybl2 MYB proto-oncogene like 2 gene DOID:234 colon adenocarcinoma ISO RGD:1318263 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8713691 Mybl2 MYB proto-oncogene like 2 gene DOID:3275 thymoma ISO RGD:1318263 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8713691 Mybl2 MYB proto-oncogene like 2 gene DOID:4362 cervical cancer ISO RGD:1318263 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8713691 Mybl2 MYB proto-oncogene like 2 gene DOID:5041 esophageal cancer ISO RGD:1318263 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8713691 Mybl2 MYB proto-oncogene like 2 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1318263 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8713691 Mybl2 MYB proto-oncogene like 2 gene DOID:6171 uterine carcinosarcoma ISO RGD:1318263 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 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:9005539 Familial Prostate Cancer ISO RGD:1318263 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial prostate cancer 8713691 Mybl2 MYB proto-oncogene like 2 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1318263 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8713691 Mybl2 MYB proto-oncogene like 2 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1318263 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast 8713691 Mybl2 MYB proto-oncogene like 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1318263 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8713732 Calu calumenin gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:733017 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8713732 Calu calumenin gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:733017 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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:10534 stomach cancer ISO RGD:733017 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8713732 Calu calumenin gene DOID:1115 sarcoma ISO RGD:733017 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 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:1909 melanoma ISO RGD:733017 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8713732 Calu calumenin gene DOID:3275 thymoma ISO RGD:733017 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8713732 Calu calumenin gene DOID:4362 cervical cancer ISO RGD:733017 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8713732 Calu calumenin gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:733017 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8713732 Calu calumenin gene DOID:6354 chronic lymphocytic leukemia/small lymphocytic lymphoma ISO RGD:733017 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma 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 8713732 Calu calumenin gene DOID:9119 acute myeloid leukemia ISO RGD:733017 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8713747 Clptm1 CLPTM1 regulator of GABA type A receptor forward trafficking gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1322154 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8713747 Clptm1 CLPTM1 regulator of GABA type A receptor forward trafficking gene DOID:10534 stomach cancer ISO RGD:1322154 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8713747 Clptm1 CLPTM1 regulator of GABA type A receptor forward trafficking gene DOID:11054 urinary bladder cancer ISO RGD:1322154 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8713747 Clptm1 CLPTM1 regulator of GABA type A receptor forward trafficking gene DOID:1115 sarcoma ISO RGD:1322154 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 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 8713747 Clptm1 CLPTM1 regulator of GABA type A receptor forward trafficking gene DOID:1909 melanoma ISO RGD:1322154 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8713747 Clptm1 CLPTM1 regulator of GABA type A receptor forward trafficking gene DOID:3275 thymoma ISO RGD:1322154 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8713747 Clptm1 CLPTM1 regulator of GABA type A receptor forward trafficking gene DOID:4362 cervical cancer ISO RGD:1322154 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8713747 Clptm1 CLPTM1 regulator of GABA type A receptor forward trafficking gene DOID:5041 esophageal cancer ISO RGD:1322154 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8713747 Clptm1 CLPTM1 regulator of GABA type A receptor forward trafficking gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1322154 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 8713747 Clptm1 CLPTM1 regulator of GABA type A receptor forward trafficking gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1322154 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8713747 Clptm1 CLPTM1 regulator of GABA type A receptor forward trafficking gene DOID:684 hepatocellular carcinoma ISO RGD:1322154 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8713747 Clptm1 CLPTM1 regulator of GABA type A receptor forward trafficking gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1322154 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8713747 Clptm1 CLPTM1 regulator of GABA type A receptor forward trafficking gene DOID:9008952 Breast Cancer, Familial ISO RGD:1322154 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8713747 Clptm1 CLPTM1 regulator of GABA type A receptor forward trafficking gene DOID:9119 acute myeloid leukemia ISO RGD:1322154 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8713765 Nt5dc1 5'-nucleotidase domain containing 1 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1313107 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8713765 Nt5dc1 5'-nucleotidase domain containing 1 gene DOID:10534 stomach cancer ISO RGD:1313107 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8713765 Nt5dc1 5'-nucleotidase domain containing 1 gene DOID:11054 urinary bladder cancer ISO RGD:1313107 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8713765 Nt5dc1 5'-nucleotidase domain containing 1 gene DOID:1115 sarcoma ISO RGD:1313107 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8713765 Nt5dc1 5'-nucleotidase domain containing 1 gene DOID:1324 lung cancer ISO RGD:1313107 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 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:234 colon adenocarcinoma ISO RGD:1313107 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8713765 Nt5dc1 5'-nucleotidase domain containing 1 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1313107 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 8713765 Nt5dc1 5'-nucleotidase domain containing 1 gene DOID:5041 esophageal cancer ISO RGD:1313107 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8713765 Nt5dc1 5'-nucleotidase domain containing 1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1313107 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8713765 Nt5dc1 5'-nucleotidase domain containing 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1313107 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8713781 Irx3 iroquois homeobox 3 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1316613 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8713781 Irx3 iroquois homeobox 3 gene DOID:1324 lung cancer ISO RGD:1316613 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8713781 Irx3 iroquois homeobox 3 gene DOID:3275 thymoma ISO RGD:1316613 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8713781 Irx3 iroquois homeobox 3 gene DOID:5041 esophageal cancer ISO RGD:1316613 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 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 8713802 Prdx1 peroxiredoxin 1 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:733744 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 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 20260519 ClinVar ClinVar Annotator: match by term: PRDX1-related condition PMID:28492532 8713802 Prdx1 peroxiredoxin 1 gene DOID:0060058 lymphoma ISO RGD:733744 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lymphoma 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:10320 asbestosis ISO RGD:733744 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22537621 8713802 Prdx1 peroxiredoxin 1 gene DOID:11054 urinary bladder cancer ISO RGD:733744 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 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:2394 ovarian cancer ISO RGD:733744 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian cancer 8713802 Prdx1 peroxiredoxin 1 gene DOID:3070 high grade glioma ISO RGD:733744 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Glioma susceptibility 1 8713802 Prdx1 peroxiredoxin 1 gene DOID:3275 thymoma ISO RGD:733744 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 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:4947 cholangiocarcinoma ISO RGD:733744 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 8713802 Prdx1 peroxiredoxin 1 gene DOID:5041 esophageal cancer ISO RGD:733744 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8713802 Prdx1 peroxiredoxin 1 gene DOID:6171 uterine carcinosarcoma ISO RGD:733744 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 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:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 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 8713802 Prdx1 peroxiredoxin 1 gene DOID:9005614 Methylmalonic Aciduria and Homocystinuria ISO RGD:733744 D RGD:9068941 20260416 CTD CTD Direct Evidence: marker/mechanism 8713802 Prdx1 peroxiredoxin 1 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:733744 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8713810 Dcx doublecortin gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1348637 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8713810 Dcx doublecortin gene DOID:0050453 lissencephaly ISO RGD:1348637 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lissencephaly | ClinVar Annotator: match by term: Pachygyria | ClinVar Annotator: match by term: lissencephaly PMID:11175293|PMID:11468322|PMID:14550532|PMID:18414213|PMID:18685874|PMID:19416314|PMID:23365099|PMID:25741868|PMID:28492532|PMID:29671837|PMID:9618162 8713810 Dcx doublecortin gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1348637 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8713810 Dcx doublecortin gene DOID:0110764 hereditary spastic paraplegia 11 ISO RGD:1348637 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gait disturbance PMID:10369164|PMID:11175293|PMID:12552055|PMID:23365099|PMID:25741868|PMID:25868952|PMID:28492532 8713810 Dcx doublecortin gene DOID:0111169 subcortical band heterotopia ISO RGD:1348637 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Subcortical band heterotopia PMID:10915612|PMID:11071144|PMID:11175293|PMID:17111359|PMID:18414213|PMID:23365099|PMID:25140959|PMID:25741868|PMID:25817838|PMID:28492532|PMID:28953922|PMID:32238909|PMID:9989615 8713810 Dcx doublecortin gene DOID:0112237 lissencephaly 1 ISO RGD:1348637 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Subcortical band heterotopia PMID:10915612|PMID:11071144|PMID:11175293|PMID:17111359|PMID:18414213|PMID:23365099|PMID:25140959|PMID:25741868|PMID:25817838|PMID:28492532|PMID:28953922|PMID:32238909|PMID:9989615 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 20260602 ClinVar ClinVar Annotator: match by term: DCX-related condition | ClinVar Annotator: match by term: DCX-related disorder | ClinVar Annotator: match by term: LISSENCEPHALY, X-LINKED, 1 | 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:12390976|PMID:12552055|PMID:12838518|PMID:14550532|PMID:17111359|PMID:18414213|PMID:18685874|PMID:19416314|PMID:22727374|PMID:22857951|PMID:23365099|PMID:25741868|PMID:25817838|PMID:25868952|PMID:28492532|PMID:28953922|PMID:29671837|PMID:29706646|PMID:30979500|PMID:31589614|PMID:32238909|PMID:35213059|PMID:36801247|PMID:39626666|PMID:9489699|PMID:9489700|PMID:9618162|PMID:9989615 8713810 Dcx doublecortin gene DOID:1059 intellectual disability ISO RGD:1348637 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability PMID:11175293|PMID:11468322|PMID:17111359|PMID:18414213|PMID:18685874|PMID:23365099|PMID:25741868|PMID:25817838|PMID:28492532|PMID:28953922|PMID:29671837|PMID:9989615 8713810 Dcx doublecortin gene DOID:10907 microcephaly ISO RGD:1348637 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:11071144|PMID:11175293|PMID:17111359|PMID:18414213|PMID:23365099|PMID:25741868|PMID:25817838|PMID:28492532|PMID:28953922|PMID:32238909|PMID:9989615 8713810 Dcx doublecortin gene DOID:10908 hydrocephalus ISO RGD:1348637 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ventriculomegaly PMID:11175293|PMID:17111359|PMID:18414213|PMID:23365099|PMID:25741868|PMID:25817838|PMID:28492532|PMID:28953922|PMID:9989615 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:1824 status epilepticus ISO RGD:1348637 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Status epilepticus PMID:11071144|PMID:25741868|PMID:32238909 8713810 Dcx doublecortin gene DOID:1826 epilepsy ISO RGD:1348637 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:11175293|PMID:17111359|PMID:18414213|PMID:23365099|PMID:25326635|PMID:25741868|PMID:25817838|PMID:28492532|PMID:28953922|PMID:9989615 8713810 Dcx doublecortin gene DOID:1826 epilepsy ISO RGD:1348637 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Seizure PMID:11175293|PMID:17111359|PMID:18414213|PMID:23365099|PMID:25741868|PMID:25817838|PMID:28492532|PMID:28953922|PMID:9989615 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:1827 generalized epilepsy ISO RGD:1348637 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Generalized-onset seizure PMID:11071144|PMID:25741868|PMID:32238909 8713810 Dcx doublecortin gene DOID:2234 focal epilepsy ISO RGD:1348637 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:11468322|PMID:18414213|PMID:18685874|PMID:25741868|PMID:28492532 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:630 genetic disease ISO RGD:1348637 D RGD:8554872 20260519 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:28492532|PMID:32238909|PMID:35213059|PMID:9618162 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 20260602 ClinVar ClinVar Annotator: match by term: LISSENCEPHALY AND AGENESIS OF CORPUS CALLOSUM | ClinVar Annotator: match by term: Lissencephaly and agenesis of corpus callosum | ClinVar Annotator: match by term: SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED | ClinVar Annotator: match by term: Subcortical laminar heterotopia, X-linked PMID:10369164|PMID:10441340|PMID:11175293|PMID:11468322|PMID:12390976|PMID:12552055|PMID:12838518|PMID:14550532|PMID:17111359|PMID:18414213|PMID:18685874|PMID:19416314|PMID:22727374|PMID:23365099|PMID:25741868|PMID:25817838|PMID:25868952|PMID:28492532|PMID:28953922|PMID:29671837|PMID:30979500|PMID:35213059|PMID:39626666|PMID:9489699|PMID:9489700|PMID:9618162|PMID:9989615 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:9004429 Neurodevelopmental Disorders ISO RGD:1348637 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:18414213|PMID:25741868 8713810 Dcx doublecortin gene DOID:9004866 Ataxia ISO RGD:1348637 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ataxia PMID:11071144|PMID:25741868|PMID:32238909 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:9005603 Muscle Hypotonia ISO RGD:1348637 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hypotonia PMID:10369164|PMID:11071144|PMID:11175293|PMID:12552055|PMID:23365099|PMID:25741868|PMID:25868952|PMID:28492532|PMID:32238909 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:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1348637 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8713810 Dcx doublecortin gene DOID:9008086 Developmental Disabilities ISO RGD:1348637 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:10369164|PMID:11175293|PMID:12552055|PMID:17111359|PMID:18414213|PMID:23365099|PMID:25741868|PMID:25817838|PMID:25868952|PMID:28492532|PMID:28953922|PMID:9989615 8713810 Dcx doublecortin gene DOID:9008500 Classical Lissencephalies and Subcortical Band Heterotopias ISO RGD:1348637 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lissencephaly, X-linked PMID:10369164|PMID:11175293|PMID:18414213|PMID:23365099|PMID:25741868|PMID:28492532|PMID:29671837|PMID:9618162 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:9008952 Breast Cancer, Familial ISO RGD:1348637 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8713810 Dcx doublecortin gene DOID:9009131 Ventriculomegaly ISO RGD:1348637 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ventriculomegaly PMID:11175293|PMID:17111359|PMID:18414213|PMID:23365099|PMID:25741868|PMID:25817838|PMID:28492532|PMID:28953922|PMID:9989615 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 8713835 Mamstr MEF2 activating motif and SAP domain containing transcriptional regulator gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1604486 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8713835 Mamstr MEF2 activating motif and SAP domain containing transcriptional regulator gene DOID:1115 sarcoma ISO RGD:1604486 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8713835 Mamstr MEF2 activating motif and SAP domain containing transcriptional regulator gene DOID:5041 esophageal cancer ISO RGD:1604486 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8713835 Mamstr MEF2 activating motif and SAP domain containing transcriptional regulator gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1604486 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8713835 Mamstr MEF2 activating motif and SAP domain containing transcriptional regulator gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1604486 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8713851 Atp6ap2 ATPase H+ transporting accessory protein 2 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1346001 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma PMID:28492532 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 | 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: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 20260602 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HEDERA TYPE | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type PMID:15746149|PMID:17576681|PMID:25741868|PMID:26467025|PMID:26467484|PMID:28492532|PMID:9536098 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 20260602 ClinVar ClinVar Annotator: match by term: Parkinsonism with spasticity, X-linked | ClinVar Annotator: match by term: X-linked parkinsonism-spasticity syndrome 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:1324 lung cancer ISO RGD:1346001 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8713851 Atp6ap2 ATPase H+ transporting accessory protein 2 gene DOID:1909 melanoma ISO RGD:1346001 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8713851 Atp6ap2 ATPase H+ transporting accessory protein 2 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1346001 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 8713851 Atp6ap2 ATPase H+ transporting accessory protein 2 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1346001 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8713851 Atp6ap2 ATPase H+ transporting accessory protein 2 gene DOID:630 genetic disease ISO RGD:1346001 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|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:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1346001 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 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 8713864 Zfp62 ZFP62 zinc finger protein gene DOID:1324 lung cancer ISO RGD:1353379 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8713883 Tnpo3 transportin 3 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1318997 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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 20260602 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:16199547|PMID:17576681|PMID:23543484|PMID:23667635|PMID:25741868|PMID:28492532|PMID:30567601|PMID:31071488|PMID:31217819|PMID:31674007|PMID:33057194|PMID:9536098 8713883 Tnpo3 transportin 3 gene DOID:10534 stomach cancer ISO RGD:1318997 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:25741868 8713883 Tnpo3 transportin 3 gene DOID:1115 sarcoma ISO RGD:1318997 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8713883 Tnpo3 transportin 3 gene DOID:1324 lung cancer ISO RGD:1318997 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8713883 Tnpo3 transportin 3 gene DOID:1909 melanoma ISO RGD:1318997 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8713883 Tnpo3 transportin 3 gene DOID:4362 cervical cancer ISO RGD:1318997 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8713883 Tnpo3 transportin 3 gene DOID:4947 cholangiocarcinoma ISO RGD:1318997 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma PMID:25741868 8713883 Tnpo3 transportin 3 gene DOID:5041 esophageal cancer ISO RGD:1318997 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8713883 Tnpo3 transportin 3 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1318997 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 8713883 Tnpo3 transportin 3 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1318997 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8713883 Tnpo3 transportin 3 gene DOID:6171 uterine carcinosarcoma ISO RGD:1318997 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma PMID:25741868 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 8713883 Tnpo3 transportin 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1318997 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8713883 Tnpo3 transportin 3 gene DOID:9119 acute myeloid leukemia ISO RGD:1318997 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8713916 Trafd1 TRAF-type zinc finger domain containing 1 gene DOID:10534 stomach cancer ISO RGD:1605702 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8713916 Trafd1 TRAF-type zinc finger domain containing 1 gene DOID:1909 melanoma ISO RGD:1605702 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8713916 Trafd1 TRAF-type zinc finger domain containing 1 gene DOID:4074 pancreatic adenocarcinoma ISO RGD:1605702 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma 8713916 Trafd1 TRAF-type zinc finger domain containing 1 gene DOID:5041 esophageal cancer ISO RGD:1605702 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8713916 Trafd1 TRAF-type zinc finger domain containing 1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1605702 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8713916 Trafd1 TRAF-type zinc finger domain containing 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1605702 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 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 8713916 Trafd1 TRAF-type zinc finger domain containing 1 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1605702 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8713916 Trafd1 TRAF-type zinc finger domain containing 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1605702 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8713930 Ulk3 unc-51 like kinase 3 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1349871 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8713930 Ulk3 unc-51 like kinase 3 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1349871 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8713930 Ulk3 unc-51 like kinase 3 gene DOID:10534 stomach cancer ISO RGD:1349871 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8713930 Ulk3 unc-51 like kinase 3 gene DOID:1115 sarcoma ISO RGD:1349871 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8713930 Ulk3 unc-51 like kinase 3 gene DOID:1324 lung cancer ISO RGD:1349871 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8713930 Ulk3 unc-51 like kinase 3 gene DOID:3275 thymoma ISO RGD:1349871 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8713930 Ulk3 unc-51 like kinase 3 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1349871 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 8713930 Ulk3 unc-51 like kinase 3 gene DOID:5041 esophageal cancer ISO RGD:1349871 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8713930 Ulk3 unc-51 like kinase 3 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1349871 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8713930 Ulk3 unc-51 like kinase 3 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1349871 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8713930 Ulk3 unc-51 like kinase 3 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1349871 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8713930 Ulk3 unc-51 like kinase 3 gene DOID:9119 acute myeloid leukemia ISO RGD:1349871 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult 8713930 Ulk3 unc-51 like kinase 3 gene DOID:9256 colorectal cancer ISO RGD:1349871 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colorectal cancer 8713968 Draxin dorsal inhibitory axon guidance protein gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1605526 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8713968 Draxin dorsal inhibitory axon guidance protein gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1605526 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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:11054 urinary bladder cancer ISO RGD:1605526 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 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:3070 high grade glioma ISO RGD:1605526 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Glioma susceptibility 1 8713968 Draxin dorsal inhibitory axon guidance protein gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1605526 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8713968 Draxin dorsal inhibitory axon guidance protein gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1605526 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8713968 Draxin dorsal inhibitory axon guidance protein gene DOID:9008952 Breast Cancer, Familial ISO RGD:1605526 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8713977 Tmem97 transmembrane protein 97 gene DOID:10534 stomach cancer ISO RGD:1607046 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8713977 Tmem97 transmembrane protein 97 gene DOID:11054 urinary bladder cancer ISO RGD:1607046 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8713977 Tmem97 transmembrane protein 97 gene DOID:1909 melanoma ISO RGD:1607046 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8713977 Tmem97 transmembrane protein 97 gene DOID:234 colon adenocarcinoma ISO RGD:1607046 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8713977 Tmem97 transmembrane protein 97 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1607046 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8713984 Med6 mediator complex subunit 6 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1321116 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8713984 Med6 mediator complex subunit 6 gene DOID:1115 sarcoma ISO RGD:1321116 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8713984 Med6 mediator complex subunit 6 gene DOID:1324 lung cancer ISO RGD:1321116 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8713984 Med6 mediator complex subunit 6 gene DOID:3070 high grade glioma ISO RGD:1321116 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Glioma susceptibility 1 8713984 Med6 mediator complex subunit 6 gene DOID:3275 thymoma ISO RGD:1321116 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8713984 Med6 mediator complex subunit 6 gene DOID:4362 cervical cancer ISO RGD:1321116 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8713984 Med6 mediator complex subunit 6 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1321116 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 8713984 Med6 mediator complex subunit 6 gene DOID:6171 uterine carcinosarcoma ISO RGD:1321116 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8713984 Med6 mediator complex subunit 6 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1321116 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8713984 Med6 mediator complex subunit 6 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1321116 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8713997 Slc1a2 solute carrier family 1 member 2 gene DOID:0050741 alcohol dependence ISO RGD:3697 D RGD:9068941 20250510 RGD protein:decreased expression:shell of nucleus accumbens (rat) PMID:33075417|REF_RGD_ID:598973840 8713997 Slc1a2 solute carrier family 1 member 2 gene DOID:0050741 alcohol dependence ISO RGD:3697 D RGD:9068941 20250522 RGD associated with nicotine dependence; protein:decreased expression:nucleus accumbens (rat) PMID:29753887|REF_RGD_ID:616363027 8713997 Slc1a2 solute carrier family 1 member 2 gene DOID:0050741 alcohol dependence treatment ISO RGD:3697 D RGD:9068941 20250424 RGD associated with nicotine dependence PMID:27060486|REF_RGD_ID:598108052 8713997 Slc1a2 solute carrier family 1 member 2 gene DOID:0050741 alcohol dependence treatment ISO RGD:3697 D RGD:9068941 20250529 RGD PMID:23518814|PMID:23893122|PMID:24535561|PMID:25400560|PMID:25813713|PMID:26002627|PMID:26168897|PMID:26790351|PMID:27199635|PMID:27993695|PMID:36153003|REF_RGD_ID:598136399|REF_RGD_ID:598136402|REF_RGD_ID:598147066|REF_RGD_ID:598147069|REF_RGD_ID:598147077|REF_RGD_ID:598148181|REF_RGD_ID:598150065|REF_RGD_ID:598150306|REF_RGD_ID:598154609|REF_RGD_ID:598276809|REF_RGD_ID:616363034 8713997 Slc1a2 solute carrier family 1 member 2 gene DOID:0050742 nicotine dependence ISO RGD:3697 D RGD:9068941 20250522 RGD protein:decreased expression:nucleus accumbens (rat) PMID:29753887|REF_RGD_ID:616363027 8713997 Slc1a2 solute carrier family 1 member 2 gene DOID:0050742 nicotine dependence ISO RGD:736773 D RGD:9068941 20250501 RGD mRNA,protein:decreased expression: brain, striatum (mouse) PMID:33242460|REF_RGD_ID:598154614 8713997 Slc1a2 solute carrier family 1 member 2 gene DOID:0050742 nicotine dependence treatment ISO RGD:3697 D RGD:9068941 20250424 RGD PMID:27060486|REF_RGD_ID:598108052 8713997 Slc1a2 solute carrier family 1 member 2 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:732300 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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 20260602 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 41 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 41 | ClinVar Annotator: match by term: SLC1A2-related condition PMID:23107647|PMID:24214974|PMID:25741868|PMID:27476654|PMID:28492532|PMID:28777935|PMID:30937933|PMID:31164858|PMID:31618753|PMID:34961934|PMID:36543780 8713997 Slc1a2 solute carrier family 1 member 2 gene DOID:10534 stomach cancer ISO RGD:732300 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 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:11206 opioid abuse treatment ISO RGD:3697 D RGD:9068941 20250426 RGD PMID:36470419|REF_RGD_ID:598147056 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:1742 drug psychosis susceptibility ISO RGD:732300 D RGD:9068941 20250529 RGD associated with amphetamine abuse; DNA:SNP: (rs4755404) (human) PMID:36836504|REF_RGD_ID:616363036 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:3275 thymoma ISO RGD:732300 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 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:5746 ovarian serous cystadenocarcinoma ISO RGD:732300 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8713997 Slc1a2 solute carrier family 1 member 2 gene DOID:630 genetic disease ISO RGD:732300 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8713997 Slc1a2 solute carrier family 1 member 2 gene DOID:684 hepatocellular carcinoma ISO RGD:732300 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 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:9005111 morphine withdrawal syndrome treatment ISO RGD:3697 D RGD:9068941 20250529 RGD PMID:14750980|REF_RGD_ID:616363139 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 8713997 Slc1a2 solute carrier family 1 member 2 gene DOID:9975 cocaine dependence ISO RGD:3697 D RGD:9068941 20250501 RGD PMID:23985782|REF_RGD_ID:598150314 8713997 Slc1a2 solute carrier family 1 member 2 gene DOID:9975 cocaine dependence treatment ISO RGD:3697 D RGD:9068941 20250515 RGD PMID:31100299|REF_RGD_ID:598150313 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 20260602 ClinVar ClinVar Annotator: match by term: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5 | ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, 5 PMID:17576681|PMID:25741868|PMID:28492532|PMID:28600779|PMID:30312704|PMID:9536098 8714015 LOC102009633 chromosome unknown open reading frame, human C17orf62 gene DOID:1324 lung cancer ISO RGD:1606782 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8714015 LOC102009633 chromosome unknown open reading frame, human C17orf62 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1606782 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8714015 LOC102009633 chromosome unknown open reading frame, human C17orf62 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1606782 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8714037 Ncoa3 nuclear receptor coactivator 3 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1344181 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8714037 Ncoa3 nuclear receptor coactivator 3 gene DOID:10003 sensorineural hearing loss ISO RGD:1344181 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder 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:10534 stomach cancer ISO RGD:1344181 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8714037 Ncoa3 nuclear receptor coactivator 3 gene DOID:11054 urinary bladder cancer ISO RGD:1344181 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8714037 Ncoa3 nuclear receptor coactivator 3 gene DOID:1115 sarcoma ISO RGD:1344181 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 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:1324 lung cancer ISO RGD:1344181 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 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:1909 melanoma ISO RGD:1344181 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 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:3275 thymoma ISO RGD:1344181 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 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:3907 lung squamous cell carcinoma ISO RGD:1344181 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma 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:4074 pancreatic adenocarcinoma ISO RGD:1344181 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma 8714037 Ncoa3 nuclear receptor coactivator 3 gene DOID:4362 cervical cancer ISO RGD:1344181 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8714037 Ncoa3 nuclear receptor coactivator 3 gene DOID:5041 esophageal cancer ISO RGD:1344181 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8714037 Ncoa3 nuclear receptor coactivator 3 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1344181 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 8714037 Ncoa3 nuclear receptor coactivator 3 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1344181 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8714037 Ncoa3 nuclear receptor coactivator 3 gene DOID:6171 uterine carcinosarcoma ISO RGD:1344181 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 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:9008952 Breast Cancer, Familial ISO RGD:1344181 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8714037 Ncoa3 nuclear receptor coactivator 3 gene DOID:9119 acute myeloid leukemia ISO RGD:1344181 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 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:1909 melanoma ISO RGD:1312086 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8714095 Ebpl EBP like gene DOID:4362 cervical cancer ISO RGD:1312086 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8714095 Ebpl EBP like gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1312086 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 8714095 Ebpl EBP like gene DOID:5041 esophageal cancer ISO RGD:1312086 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8714095 Ebpl EBP like gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1312086 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8714095 Ebpl EBP like gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1312086 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8714102 Spata33 spermatogenesis associated 33 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1602656 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8714102 Spata33 spermatogenesis associated 33 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1602656 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8714112 Mosmo modulator of smoothened gene DOID:9008952 Breast Cancer, Familial ISO RGD:2302534 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8714112 Mosmo modulator of smoothened gene DOID:9119 acute myeloid leukemia ISO RGD:2302534 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8714168 Kbtbd4 kelch repeat and BTB domain containing 4 gene DOID:0080706 medulloblastoma non-WNT/non-SHH ISO RGD:1321017 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Medulloblastoma non-WNT/non-SHH PMID:27993330|PMID:28726821|PMID:33172502|PMID:35379950|PMID:35489737 8714168 Kbtbd4 kelch repeat and BTB domain containing 4 gene DOID:0080707 medulloblastoma non-WNT/non-SHH group 3 ISO RGD:1321017 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Medulloblastoma non-WNT/non-SHH group 3 PMID:27993330|PMID:28726821|PMID:33172502|PMID:35379950|PMID:35489737 8714168 Kbtbd4 kelch repeat and BTB domain containing 4 gene DOID:234 colon adenocarcinoma ISO RGD:1321017 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8714168 Kbtbd4 kelch repeat and BTB domain containing 4 gene DOID:5030 pineal parenchymal tumor of intermediate differentiation ISO RGD:1321017 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Pineal parenchymal tumor of intermediate differentiation PMID:27993330|PMID:28726821|PMID:30877433|PMID:31768671|PMID:31820118|PMID:33172502|PMID:33619588|PMID:35000018|PMID:35379950 8714168 Kbtbd4 kelch repeat and BTB domain containing 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1321017 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8714189 Dtd1 D-aminoacyl-tRNA deacylase 1 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1323478 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8714189 Dtd1 D-aminoacyl-tRNA deacylase 1 gene DOID:1909 melanoma ISO RGD:1323478 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8714189 Dtd1 D-aminoacyl-tRNA deacylase 1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1323478 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8714239 Kcna2 potassium voltage-gated channel subfamily A member 2 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:735518 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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 20260616 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 32 | 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 condition | ClinVar Annotator: match by term: KCNA2-related disorder PMID:15694325|PMID:16002579|PMID:16770729|PMID:18414213|PMID:18504314|PMID:20584892|PMID:20696761|PMID:20869590|PMID:21044565|PMID:2533790|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:29050392|PMID:29100083|PMID:29314583|PMID:31905474|PMID:32086284|PMID:33232902|PMID:33624935|PMID:33802230|PMID:34445196|PMID:36619507|PMID:37883018|PMID:38517617|PMID:39048885|PMID:40894870|PMID:40939882|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 20260519 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 8714239 Kcna2 potassium voltage-gated channel subfamily A member 2 gene DOID:0080855 Parkinsonism ISO RGD:735518 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Parkinsonian disorder PMID:28492532 8714239 Kcna2 potassium voltage-gated channel subfamily A member 2 gene DOID:10534 stomach cancer ISO RGD:735518 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8714239 Kcna2 potassium voltage-gated channel subfamily A member 2 gene DOID:1059 intellectual disability ISO RGD:735518 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8714239 Kcna2 potassium voltage-gated channel subfamily A member 2 gene DOID:10907 microcephaly ISO RGD:735518 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 8714239 Kcna2 potassium voltage-gated channel subfamily A member 2 gene DOID:11830 myopia ISO RGD:735518 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Myopia PMID:25741868|PMID:28492532 8714239 Kcna2 potassium voltage-gated channel subfamily A member 2 gene DOID:11832 visual epilepsy ISO RGD:735518 D RGD:9068941 20260108 CTD CTD Direct Evidence: marker/mechanism PMID:25751627 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:1826 epilepsy ISO RGD:735518 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures | ClinVar Annotator: match by term: seizures PMID:2533790|PMID:25741868|PMID:25751627|PMID:27457812|PMID:28492532|PMID:29314583|PMID:33802230 8714239 Kcna2 potassium voltage-gated channel subfamily A member 2 gene DOID:1827 generalized epilepsy ISO RGD:735518 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Generalized-onset seizure PMID:25741868|PMID:28492532 8714239 Kcna2 potassium voltage-gated channel subfamily A member 2 gene DOID:1891 optic nerve disease ISO RGD:735518 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Abnormal optic nerve morphology PMID:25741868|PMID:28492532 8714239 Kcna2 potassium voltage-gated channel subfamily A member 2 gene DOID:480 movement disease ISO RGD:735518 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Movement disorder PMID:28492532 8714239 Kcna2 potassium voltage-gated channel subfamily A member 2 gene DOID:630 genetic disease ISO RGD:735518 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20696761|PMID:25741868|PMID:26467025|PMID:28019661|PMID:28492532 8714239 Kcna2 potassium voltage-gated channel subfamily A member 2 gene DOID:9001276 Failure to Thrive ISO RGD:735518 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:28492532 8714239 Kcna2 potassium voltage-gated channel subfamily A member 2 gene DOID:9002775 Cognitive Dysfunction ISO RGD:735518 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cognitive impairment PMID:28492532 8714239 Kcna2 potassium voltage-gated channel subfamily A member 2 gene DOID:9003133 Hypertelorism ISO RGD:735518 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:26648591|PMID:27062609|PMID:29050392 8714239 Kcna2 potassium voltage-gated channel subfamily A member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735518 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality PMID:25741868|PMID:28492532 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:9005603 Muscle Hypotonia ISO RGD:735518 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:2533790|PMID:25751627|PMID:28492532|PMID:29314583|PMID:33802230 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:9007661 Dwarfism ISO RGD:735518 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Short stature PMID:28492532 8714239 Kcna2 potassium voltage-gated channel subfamily A member 2 gene DOID:9008023 Memory Disorders ISO RGD:735518 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Memory impairment PMID:28492532 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 8714239 Kcna2 potassium voltage-gated channel subfamily A member 2 gene DOID:936 brain disease ISO RGD:735518 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Encephalopathy PMID:2533790|PMID:25751627|PMID:28492532|PMID:29314583|PMID:33802230 8714239 Kcna2 potassium voltage-gated channel subfamily A member 2 gene DOID:9650 pathologic nystagmus ISO RGD:735518 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nystagmus PMID:25741868|PMID:28492532 8714239 Kcna2 potassium voltage-gated channel subfamily A member 2 gene DOID:9970 obesity ISO RGD:735518 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Obesity PMID:28492532 8714239 Kcna2 potassium voltage-gated channel subfamily A member 2 gene DOID:9993 hypoglycemia ISO RGD:735518 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hypoglycemia PMID:25741868|PMID:28492532 8714280 Ids iduronate 2-sulfatase gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1351665 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma PMID:10215411|PMID:10447264|PMID:11462244|PMID:11683780|PMID:1303211|PMID:15614569|PMID:16133661|PMID:1639384|PMID:17063374|PMID:18414213|PMID:21291454|PMID:21829674|PMID:22976768|PMID:23800320|PMID:24125893|PMID:25741868|PMID:26407519|PMID:26693516|PMID:27146977|PMID:27246110|PMID:27883178|PMID:27896113|PMID:28492532|PMID:28543354|PMID:30639582|PMID:31877959|PMID:33676511|PMID:33960103|PMID:35144014|PMID:36713083|PMID:7728156|PMID:7887413|PMID:8111411|PMID:8281149|PMID:8664909|PMID:8940265|PMID:9266380|PMID:9442913|PMID:9452044|PMID:9762601|PMID:9875019|PMID:9921913|PMID:9950361 8714280 Ids iduronate 2-sulfatase gene DOID:0050847 sleep apnea ISO RGD:1351665 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Sleep apnea PMID:10215411|PMID:10447264|PMID:11462244|PMID:11683780|PMID:1303211|PMID:15614569|PMID:16133661|PMID:1639384|PMID:17063374|PMID:18414213|PMID:21291454|PMID:21829674|PMID:22976768|PMID:23800320|PMID:24125893|PMID:25741868|PMID:26407519|PMID:26693516|PMID:27146977|PMID:27246110|PMID:27883178|PMID:27896113|PMID:28492532|PMID:28543354|PMID:30639582|PMID:31877959|PMID:33676511|PMID:33960103|PMID:35144014|PMID:36713083|PMID:7728156|PMID:7887413|PMID:8111411|PMID:8281149|PMID:8664909|PMID:8940265|PMID:9266380|PMID:9442913|PMID:9452044|PMID:9762601|PMID:9875019|PMID:9921913|PMID:9950361 8714280 Ids iduronate 2-sulfatase gene DOID:0060249 scoliosis ISO RGD:1351665 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Scoliosis PMID:25741868|PMID:28492532|PMID:36907694|PMID:36980980 8714280 Ids iduronate 2-sulfatase gene DOID:0060320 inguinal hernia ISO RGD:1351665 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Inguinal hernia PMID:10215411|PMID:10447264|PMID:11462244|PMID:11683780|PMID:1303211|PMID:15614569|PMID:16133661|PMID:1639384|PMID:17063374|PMID:18414213|PMID:21291454|PMID:21829674|PMID:22976768|PMID:23800320|PMID:24125893|PMID:25741868|PMID:26407519|PMID:26693516|PMID:27146977|PMID:27246110|PMID:27883178|PMID:27896113|PMID:28492532|PMID:28543354|PMID:30639582|PMID:31877959|PMID:33676511|PMID:33960103|PMID:35144014|PMID:36713083|PMID:7728156|PMID:7887413|PMID:8111411|PMID:8281149|PMID:8664909|PMID:8940265|PMID:9266380|PMID:9442913|PMID:9452044|PMID:9762601|PMID:9875019|PMID:9921913|PMID:9950361 8714280 Ids iduronate 2-sulfatase gene DOID:0111390 mucopolysaccharidosis Ih ISO RGD:1351665 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Dysostosis multiplex PMID:10215411|PMID:10447264|PMID:11462244|PMID:11683780|PMID:1303211|PMID:15614569|PMID:16133661|PMID:1639384|PMID:17063374|PMID:18414213|PMID:21291454|PMID:21829674|PMID:22976768|PMID:23800320|PMID:24125893|PMID:25741868|PMID:26407519|PMID:26693516|PMID:27146977|PMID:27246110|PMID:27883178|PMID:27896113|PMID:28492532|PMID:28543354|PMID:30639582|PMID:31877959|PMID:33676511|PMID:33960103|PMID:35144014|PMID:36713083|PMID:7728156|PMID:7887413|PMID:8111411|PMID:8281149|PMID:8664909|PMID:8940265|PMID:9266380|PMID:9442913|PMID:9452044|PMID:9762601|PMID:9875019|PMID:9921913|PMID:9950361 8714280 Ids iduronate 2-sulfatase gene DOID:0111395 mucopolysaccharidosis type IIIA ISO RGD:1351665 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis type IIIA | ClinVar Annotator: match by term: Mucopolysaccharidosis type IIIA (Sanfilippo A) PMID:10215411|PMID:10447264|PMID:11462244|PMID:11683780|PMID:12048688|PMID:1284597|PMID:1303211|PMID:15614569|PMID:16133661|PMID:16480701|PMID:16495038|PMID:17063374|PMID:17091340|PMID:17391447|PMID:18414213|PMID:18500569|PMID:19573456|PMID:21108396|PMID:21291454|PMID:21829674|PMID:21834048|PMID:22976768|PMID:22976778|PMID:23232253|PMID:24125893|PMID:24515576|PMID:24780617|PMID:24798265|PMID:25741868|PMID:25976201|PMID:26407519|PMID:26897145|PMID:27146977|PMID:27246110|PMID:27351199|PMID:27848944|PMID:27883178|PMID:27896113|PMID:28077157|PMID:28492532|PMID:28543354|PMID:29095814|PMID:29671225|PMID:29801497|PMID:29966168|PMID:30639582|PMID:30809705|PMID:31877959|PMID:33676511|PMID:33960103|PMID:34670126|PMID:34813777|PMID:35144014|PMID:35225932|PMID:35614200|PMID:35887520|PMID:36713083|PMID:36907694|PMID:36945845|PMID:38053932|PMID:39077064|PMID:39803987|PMID:7581397|PMID:7599640|PMID:7728156|PMID:7887413|PMID:8111411|PMID:8281149|PMID:8554071|PMID:8664909|PMID:8940265|PMID:9266380|PMID:9442913|PMID:9452044|PMID:9501270|PMID:9573369|PMID:9660053|PMID:9875019|PMID:9921913|PMID:9950361 8714280 Ids iduronate 2-sulfatase gene DOID:10534 stomach cancer ISO RGD:1351665 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8714280 Ids iduronate 2-sulfatase gene DOID:1059 intellectual disability ISO RGD:1351665 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:10215411|PMID:10447264|PMID:11462244|PMID:11683780|PMID:1303211|PMID:15614569|PMID:16133661|PMID:1639384|PMID:17063374|PMID:18414213|PMID:21291454|PMID:21829674|PMID:22976768|PMID:23800320|PMID:24125893|PMID:25741868|PMID:26407519|PMID:26693516|PMID:27146977|PMID:27246110|PMID:27883178|PMID:27896113|PMID:28492532|PMID:28543354|PMID:30639582|PMID:31877959|PMID:33676511|PMID:33960103|PMID:35144014|PMID:36713083|PMID:36907694|PMID:36980980|PMID:7728156|PMID:7887413|PMID:8111411|PMID:8281149|PMID:8664909|PMID:8940265|PMID:9266380|PMID:9442913|PMID:9452044|PMID:9762601|PMID:9875019|PMID:9921913|PMID:9950361 8714280 Ids iduronate 2-sulfatase gene DOID:1115 sarcoma ISO RGD:1351665 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 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 20260616 ClinVar ClinVar Annotator: match by term: Hunter Syndrome | ClinVar Annotator: match by term: IDS-related condition | ClinVar Annotator: match by term: MPS2 | ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS, TYPE II | ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS, TYPE II, MILD FORM | ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS, TYPE II, SEVERE FORM | ClinVar Annotator: match by term: Mucopolysaccharidosis II | ClinVar Annotator: match by term: Mucopolysaccharidosis type II | ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-II PMID:10215411|PMID:10220152|PMID:10447264|PMID:10493987|PMID:10671065|PMID:10838181|PMID:11015461|PMID:11452244|PMID:11462244|PMID:11683780|PMID:11731225|PMID:11858372|PMID:12572848|PMID:12655569|PMID:12794697|PMID:1303211|PMID:14728992|PMID:15192834|PMID:15500445|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:19167723|PMID:19573456|PMID:19933090|PMID:20104590|PMID:20301451|PMID:20960627|PMID:20960629|PMID:21062272|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: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:26407519|PMID:26693516|PMID:26752647|PMID:26762690|PMID:26897145|PMID:27146977|PMID:27246110|PMID:27351199|PMID:27789394|PMID:27789398|PMID:27789399|PMID:27837218|PMID:27883178|PMID:27896113|PMID:28077157|PMID:28186595|PMID:28477385|PMID:28492532|PMID:28543354|PMID:28588666|PMID:28593992|PMID:28720891|PMID:28844463|PMID:29053855|PMID:29671225|PMID:29801497|PMID:30409495|PMID:30639582|PMID:30809705|PMID:30945278|PMID:31046699|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:33622387|PMID:33674846|PMID:33676511|PMID:33960103|PMID:34193122|PMID:34258227|PMID:34630504|PMID:34670126|PMID:34813777|PMID:34906519|PMID:35005816|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:38425718|PMID:39303318|PMID:39547427|PMID:7492967|PMID:7581397|PMID:7599640|PMID:7728156|PMID:7814022|PMID:7866405|PMID:7887413|PMID:7981716|PMID:8111411|PMID:8281149|PMID:8566953|PMID:8664909|PMID:8807335|PMID:8829647|PMID:8829661|PMID:8830188|PMID:8940265|PMID:9222763|PMID:9266380|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:1283 enterocele ISO RGD:1351665 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Hernia PMID:10215411|PMID:10447264|PMID:10671065|PMID:11462244|PMID:11683780|PMID:11858372|PMID:1303211|PMID:15614569|PMID:16133661|PMID:1639384|PMID:17063374|PMID:18414213|PMID:21291454|PMID:21829674|PMID:22976768|PMID:23800320|PMID:24125893|PMID:24780617|PMID:25741868|PMID:26407519|PMID:26693516|PMID:27146977|PMID:27246110|PMID:27883178|PMID:27896113|PMID:28077157|PMID:28492532|PMID:28543354|PMID:30639582|PMID:31618753|PMID:31877959|PMID:33676511|PMID:33960103|PMID:35144014|PMID:36713083|PMID:7728156|PMID:7887413|PMID:8111411|PMID:8281149|PMID:8664909|PMID:8940265|PMID:9266380|PMID:9442913|PMID:9452044|PMID:9501270|PMID:9762601|PMID:9875019|PMID:9921913|PMID:9950361 8714280 Ids iduronate 2-sulfatase gene DOID:1686 glaucoma ISO RGD:1351665 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Glaucoma PMID:11858372|PMID:1639384|PMID:21829674|PMID:24780617|PMID:25741868|PMID:27246110|PMID:28077157|PMID:28492532|PMID:30639582|PMID:35144014|PMID:36713083|PMID:7887413|PMID:8111411|PMID:8281149|PMID:8940265|PMID:9501270|PMID:9875019 8714280 Ids iduronate 2-sulfatase gene DOID:3275 thymoma ISO RGD:1351665 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8714280 Ids iduronate 2-sulfatase gene DOID:381 arthropathy ISO RGD:1351665 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Arthropathy PMID:10215411|PMID:10447264|PMID:10671065|PMID:11462244|PMID:11683780|PMID:11858372|PMID:1303211|PMID:15614569|PMID:16133661|PMID:1639384|PMID:17063374|PMID:18414213|PMID:21291454|PMID:21829674|PMID:22976768|PMID:23800320|PMID:24125893|PMID:24780617|PMID:25741868|PMID:26407519|PMID:26693516|PMID:27146977|PMID:27246110|PMID:27883178|PMID:27896113|PMID:28077157|PMID:28492532|PMID:28543354|PMID:30639582|PMID:31618753|PMID:31877959|PMID:33676511|PMID:33960103|PMID:35144014|PMID:36713083|PMID:7728156|PMID:7887413|PMID:8111411|PMID:8281149|PMID:8664909|PMID:8940265|PMID:9266380|PMID:9442913|PMID:9452044|PMID:9501270|PMID:9762601|PMID:9875019|PMID:9921913|PMID:9950361 8714280 Ids iduronate 2-sulfatase gene DOID:4947 cholangiocarcinoma ISO RGD:1351665 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 8714280 Ids iduronate 2-sulfatase gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1351665 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 8714280 Ids iduronate 2-sulfatase gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1351665 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8714280 Ids iduronate 2-sulfatase gene DOID:630 genetic disease ISO RGD:1351665 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10671065|PMID:11858372|PMID:1639384|PMID:16495038|PMID:17063374|PMID:17091340|PMID:18414213|PMID:21291454|PMID:21639919|PMID:21829674|PMID:22286622|PMID:22976768|PMID:24125893|PMID:24780617|PMID:25741868|PMID:27246110|PMID:27883178|PMID:27896113|PMID:28077157|PMID:28492532|PMID:28543354|PMID:30639582|PMID:31618753|PMID:33960103|PMID:35144014|PMID:36713083|PMID:7887413|PMID:8111411|PMID:8281149|PMID:8940265|PMID:9452044|PMID:9501270|PMID:9875019|PMID:9950361 8714280 Ids iduronate 2-sulfatase gene DOID:684 hepatocellular carcinoma ISO RGD:1351665 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8714280 Ids iduronate 2-sulfatase gene DOID:9003816 Macrocephaly ISO RGD:1351665 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Macrocephaly PMID:10215411|PMID:10447264|PMID:11462244|PMID:11683780|PMID:11858372|PMID:1303211|PMID:15614569|PMID:16133661|PMID:1639384|PMID:17063374|PMID:18414213|PMID:21291454|PMID:21829674|PMID:22976768|PMID:23800320|PMID:24125893|PMID:24780617|PMID:25741868|PMID:26407519|PMID:26693516|PMID:27146977|PMID:27246110|PMID:27883178|PMID:27896113|PMID:28077157|PMID:28492532|PMID:28543354|PMID:30639582|PMID:31877959|PMID:33676511|PMID:33960103|PMID:35144014|PMID:36713083|PMID:7728156|PMID:7887413|PMID:8111411|PMID:8281149|PMID:8664909|PMID:8940265|PMID:9266380|PMID:9442913|PMID:9452044|PMID:9501270|PMID:9762601|PMID:9875019|PMID:9921913|PMID:9950361 8714280 Ids iduronate 2-sulfatase gene DOID:9004538 Hearing Loss ISO RGD:1351665 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:10215411|PMID:10447264|PMID:11462244|PMID:11683780|PMID:1303211|PMID:15614569|PMID:16133661|PMID:1639384|PMID:17063374|PMID:18414213|PMID:21291454|PMID:21829674|PMID:22976768|PMID:23800320|PMID:24125893|PMID:25741868|PMID:26407519|PMID:26693516|PMID:27146977|PMID:27246110|PMID:27883178|PMID:27896113|PMID:28492532|PMID:28543354|PMID:30639582|PMID:31877959|PMID:33676511|PMID:33960103|PMID:35144014|PMID:36713083|PMID:7728156|PMID:7887413|PMID:8111411|PMID:8281149|PMID:8664909|PMID:8940265|PMID:9266380|PMID:9442913|PMID:9452044|PMID:9762601|PMID:9875019|PMID:9921913|PMID:9950361 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:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1351665 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 PMID:15614569|PMID:25741868|PMID:28492532|PMID:31877959|PMID:35144014 8714280 Ids iduronate 2-sulfatase gene DOID:9007661 Dwarfism ISO RGD:1351665 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Short stature PMID:10215411|PMID:10447264|PMID:11462244|PMID:11683780|PMID:11858372|PMID:1303211|PMID:15614569|PMID:16133661|PMID:1639384|PMID:17063374|PMID:18414213|PMID:21291454|PMID:21829674|PMID:22976768|PMID:23800320|PMID:24125893|PMID:24780617|PMID:25741868|PMID:26407519|PMID:26693516|PMID:27146977|PMID:27246110|PMID:27883178|PMID:27896113|PMID:28077157|PMID:28492532|PMID:28543354|PMID:30639582|PMID:31877959|PMID:33676511|PMID:33960103|PMID:35144014|PMID:36713083|PMID:7728156|PMID:7887413|PMID:8111411|PMID:8281149|PMID:8664909|PMID:8940265|PMID:9266380|PMID:9442913|PMID:9452044|PMID:9501270|PMID:9762601|PMID:9875019|PMID:9921913|PMID:9950361 8714280 Ids iduronate 2-sulfatase gene DOID:9008086 Developmental Disabilities ISO RGD:1351665 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:11858372|PMID:1639384|PMID:21829674|PMID:24780617|PMID:25741868|PMID:27246110|PMID:28077157|PMID:28492532|PMID:30639582|PMID:35144014|PMID:36713083|PMID:7887413|PMID:8111411|PMID:8281149|PMID:8940265|PMID:9501270|PMID:9875019 8714280 Ids iduronate 2-sulfatase gene DOID:9008681 Deafness ISO RGD:1351665 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Deafness PMID:25741868|PMID:35144014 8714280 Ids iduronate 2-sulfatase gene DOID:9008952 Breast Cancer, Familial ISO RGD:1351665 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:10215411|PMID:10447264|PMID:11462244|PMID:11683780|PMID:1303211|PMID:15614569|PMID:16133661|PMID:1639384|PMID:17063374|PMID:18414213|PMID:21291454|PMID:21829674|PMID:22976768|PMID:23800320|PMID:24125893|PMID:25741868|PMID:26407519|PMID:26693516|PMID:27146977|PMID:27246110|PMID:27883178|PMID:27896113|PMID:28492532|PMID:28543354|PMID:30639582|PMID:31877959|PMID:33676511|PMID:33960103|PMID:35144014|PMID:36713083|PMID:7728156|PMID:7887413|PMID:8111411|PMID:8281149|PMID:8664909|PMID:8940265|PMID:9266380|PMID:9442913|PMID:9452044|PMID:9762601|PMID:9875019|PMID:9921913|PMID:9950361 8714296 Ecd ecdysoneless cell cycle regulator gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1604642 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8714296 Ecd ecdysoneless cell cycle regulator gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1604642 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8714296 Ecd ecdysoneless cell cycle regulator gene DOID:10534 stomach cancer ISO RGD:1604642 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8714296 Ecd ecdysoneless cell cycle regulator gene DOID:11054 urinary bladder cancer ISO RGD:1604642 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8714296 Ecd ecdysoneless cell cycle regulator gene DOID:234 colon adenocarcinoma ISO RGD:1604642 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8714296 Ecd ecdysoneless cell cycle regulator gene DOID:3070 high grade glioma ISO RGD:1604642 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Glioma susceptibility 1 8714296 Ecd ecdysoneless cell cycle regulator gene DOID:3275 thymoma ISO RGD:1604642 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8714296 Ecd ecdysoneless cell cycle regulator gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1604642 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8714296 Ecd ecdysoneless cell cycle regulator gene DOID:6171 uterine carcinosarcoma ISO RGD:1604642 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8714296 Ecd ecdysoneless cell cycle regulator gene DOID:9005024 Hereditary Adrenocortical Carcinoma ISO RGD:1604642 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary 8714296 Ecd ecdysoneless cell cycle regulator gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1604642 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8714296 Ecd ecdysoneless cell cycle regulator gene DOID:9008952 Breast Cancer, Familial ISO RGD:1604642 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8714296 Ecd ecdysoneless cell cycle regulator gene DOID:9119 acute myeloid leukemia ISO RGD:1604642 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8714296 Ecd ecdysoneless cell cycle regulator gene DOID:9256 colorectal cancer ISO RGD:1604642 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colorectal cancer 8714317 Tfcp2 transcription factor CP2 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1315527 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8714317 Tfcp2 transcription factor CP2 gene DOID:10534 stomach cancer ISO RGD:1315527 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8714317 Tfcp2 transcription factor CP2 gene DOID:11054 urinary bladder cancer ISO RGD:1315527 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8714317 Tfcp2 transcription factor CP2 gene DOID:234 colon adenocarcinoma ISO RGD:1315527 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8714317 Tfcp2 transcription factor CP2 gene DOID:4362 cervical cancer ISO RGD:1315527 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8714317 Tfcp2 transcription factor CP2 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1315527 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8714317 Tfcp2 transcription factor CP2 gene DOID:684 hepatocellular carcinoma ISO RGD:1315527 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8714317 Tfcp2 transcription factor CP2 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1315527 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial prostate cancer 8714363 Mybpc3 myosin binding protein C3 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1314284 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:11499719|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:29398688|PMID:31534214|PMID:35257994 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: Brugada 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:0050638 hereditary systemic amyloidosis 1 ISO RGD:1314284 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Amyloid Cardiomyopathy, Transthyretin-related 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 20250408 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:17192269|PMID:17224687|PMID:17263690|PMID:17386157|PMID:17521870|PMID:17536430|PMID:17560888|PMID:17576681|PMID:17612681|PMID:17655857|PMID:17823372|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 8714363 Mybpc3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy 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: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 8714363 Mybpc3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:32492895|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:38094187|PMID:38296580|PMID:38489124|PMID:3852942|PMID:38540378|PMID:38757491|PMID:38836037|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:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:10024348|PMID:10424815|PMID:10521296|PMID:10610770|PMID:10736283|PMID:11322659|PMID:11447480|PMID:11499718|PMID:11499719|PMID:11704759|PMID:11748309|PMID:11814735|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:12960218|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:16783378|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17192269|PMID:17224687|PMID:17263690|PMID:17386157|PMID:17521870|PMID:17532296|PMID:17536430|PMID:17560888|PMID:17576681|PMID:17612681|PMID:17655857|PMID:17823372|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:18698230|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:19279310|PMID:19293840|PMID:19356534|PMID:19387866|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:20108370|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:21598360|PMID:21638988|PMID:2171331|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:22190617|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:22848035|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23211702|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:23935525|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:24870368|PMID:24888384|PMID:24906243|PMID:25031304 8714363 Mybpc3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:25034069|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25132132|PMID:25163546|PMID:25164370|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: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:27463523|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27535533|PMID:27561770|PMID:27576561|PMID:27585509|PMID:27600940|PMID:27618852|PMID:27620334|PMID:27650965|PMID:27657681|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:29021349|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 8714363 Mybpc3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy 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|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:33095980|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:33946315|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:35177841|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:38094187|PMID:38296580|PMID:38489124|PMID:3852942|PMID:38540378|PMID:38757491|PMID:38836037|PMID:39001760|PMID:39481677|PMID:397516074|PMID:3980194|PMID:40115818|PMID:739990|PMID:747929|PMID:7493025|PMID:7493026|PMID:7786104|PMID:8533079|PMID:8852666|PMID:8898206|PMID:9048664|PMID:9241277|PMID:924849|PMID:925171|PMID:9395081|PMID:9488686|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 20260519 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Idiopathic cardiomyopathy PMID:10521296|PMID:10610770|PMID:10736283|PMID:11447480|PMID:11499718|PMID:11499719|PMID:11815426|PMID:11847170|PMID:12110947|PMID:12202917|PMID:12386147|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12787675|PMID:12788380|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:14613868|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15519027|PMID:15563892|PMID:15671604|PMID:16004897|PMID:16061003|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16335287|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16858239|PMID:17263690|PMID:17386157|PMID:17394878|PMID:17560888|PMID:17576681|PMID:17823372|PMID:17937428|PMID:17947214|PMID:18258667|PMID:18337725|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:18533079|PMID:18761664|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19149795|PMID:19150014|PMID:19273718|PMID:19356534|PMID:19574547|PMID:19659763|PMID:19694057|PMID:19808356|PMID:19996403|PMID:20019025|PMID:20021930|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20051424|PMID:20173211|PMID:20215591|PMID:20359594|PMID:20378854|PMID:20433692|PMID:20435227|PMID:20458009|PMID:20474083|PMID:20505798|PMID:20513729|PMID:20530761|PMID:20542340|PMID:20560008|PMID:20594303|PMID:20624503|PMID:20800588|PMID:20864638|PMID:20975235|PMID:21165360|PMID:21185001|PMID:21239446|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21415409|PMID:21425739|PMID:21472310|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21896538|PMID:21943931|PMID:21959974|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22122802|PMID:22173300|PMID:22177269|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22429680|PMID:22464770|PMID:22560514|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23197398|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23418438|PMID:23508784|PMID:23527136|PMID:23549607|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24440382|PMID:24503780|PMID:24510615|PMID:24704860|PMID:24721642|PMID:24749114|PMID:24774605|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24865491|PMID:25031304|PMID:25037680|PMID:25078086|PMID:25086479|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25262865|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25611685|PMID:25635128|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26223264|PMID:26332594|PMID:26467025|PMID:26489474|PMID:26633542|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26688388|PMID:26743238|PMID:26899768|PMID:26914223|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27135274|PMID:27153395|PMID:27173948|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27535533|PMID:27576561|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27650965|PMID:27662471|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28087566|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28241245|PMID:28255936|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28747690|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28855170|PMID:28971120|PMID:28986452|PMID:29021349|PMID:29029073|PMID:29121657|PMID:29192238|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29300372|PMID:29398688|PMID:29447731|PMID:29497013|PMID:29524613|PMID:29540472|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29875314|PMID:29875424 8714363 Mybpc3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Idiopathic cardiomyopathy PMID:29907873|PMID:29914921|PMID:29988065|PMID:30009132|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30327538|PMID:30456444|PMID:30550750|PMID:30571196|PMID:30611859|PMID:30615648|PMID:30645170|PMID:30665703|PMID:30669812|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30763825|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30984009|PMID:31006259|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31229680|PMID:31293105|PMID:31333075|PMID:31376648|PMID:31397097|PMID:31424582|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31568572|PMID:31660989|PMID:31677916|PMID:31729605|PMID:31737537|PMID:31771441|PMID:31901299|PMID:31918855|PMID:31931689|PMID:31941943|PMID:31983221|PMID:32009526|PMID:32034629|PMID:32041989|PMID:32183154|PMID:32228044|PMID:32250699|PMID:32341788|PMID:32355288|PMID:32369506|PMID:32380161|PMID:32480058|PMID:32481709|PMID:32492895|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:33029862|PMID:33087929|PMID:33190526|PMID:33258288|PMID:33297573|PMID:33407484|PMID:33432171|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33588347|PMID:33658040|PMID:33662488|PMID:33673806|PMID:33732734|PMID:33782553|PMID:33830315|PMID:33874732|PMID:33892289|PMID:33906374|PMID:33954932|PMID:33996946|PMID:34087240|PMID:34097875|PMID:34310159|PMID:34389451|PMID:34400558|PMID:34426522|PMID:34428338|PMID:34461741|PMID:34503678|PMID:34540771|PMID:34542152|PMID:34556856|PMID:34601892|PMID:34694434|PMID:34769381|PMID:34785479|PMID:34935411|PMID:35026164|PMID:35176171|PMID:35177841|PMID:35199016|PMID:35208637|PMID:35227736|PMID:35257994|PMID:35265679|PMID:35288587|PMID:35304488|PMID:35411935|PMID:35508642|PMID:35535697|PMID:35581268|PMID:35626289|PMID:35629155|PMID:35653365|PMID:35934244|PMID:35947370|PMID:36005429|PMID:36136372|PMID:36162733|PMID:36166435|PMID:36252119|PMID:36264615|PMID:36291626|PMID:36352534|PMID:36357371|PMID:36588553|PMID:36788754|PMID:37089884|PMID:37194601|PMID:37466024|PMID:37477868|PMID:37652022|PMID:37844837|PMID:37904629|PMID:37937352|PMID:37937776|PMID:37949234|PMID:38002985|PMID:38008210|PMID:38104429|PMID:38254962|PMID:38259611|PMID:38296580|PMID:38417376|PMID:38456273|PMID:38489124|PMID:38642550|PMID:38757491|PMID:38836037|PMID:38895864|PMID:38938358|PMID:38999502|PMID:39001760|PMID:39125703|PMID:39160446|PMID:39260623|PMID:39272661|PMID:39472908|PMID:39486665|PMID:39554508|PMID:39633578|PMID:39684611|PMID:39895654|PMID:40115818|PMID:7493025|PMID:7493026|PMID:9048664|PMID:9536098|PMID:9541115|PMID:9562578|PMID:9742053 8714363 Mybpc3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10521296|PMID:10610770|PMID:10736283|PMID:11447480|PMID:11499718|PMID:11499719|PMID:11815426|PMID:11847170|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12386147|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12787675|PMID:12788380|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:14613868|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15519027|PMID:15563892|PMID:15671604|PMID:16004897|PMID:16061003|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16335287|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17263690|PMID:17386157|PMID:17394878|PMID:17560888|PMID:17576681|PMID:17823372|PMID:17937428|PMID:17947214|PMID:18258667|PMID:18337725|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:18533079|PMID:18761664|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19149795|PMID:19150014|PMID:19273718|PMID:19356534|PMID:19574547|PMID:19659763|PMID:19694057|PMID:19808356|PMID:19996403|PMID:20019025|PMID:20021930|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20051424|PMID:20173211|PMID:20215591|PMID:20359594|PMID:20378854|PMID:20433692|PMID:20435227|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:20864638|PMID:20975235|PMID:21165360|PMID:21185001|PMID:21239446|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21415409|PMID:21425739|PMID:21472310|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21896538|PMID:21943931|PMID:21959974|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22173300|PMID:22177269|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22429680|PMID:22464770|PMID:22560514|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:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23418438|PMID:23508784|PMID:23527136|PMID:23549607|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23782526|PMID:23820649|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24440382|PMID:24503780|PMID:24510615|PMID:24704860|PMID:24721642|PMID:24749114|PMID:24774605|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24865491|PMID:25031304|PMID:25037680|PMID:25078086|PMID:25086479|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25262865|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25611685|PMID:25635128|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26223264|PMID:26332594|PMID:26467025|PMID:26489474|PMID:26633542|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26688388|PMID:26743238|PMID:26899768|PMID:26914223|PMID:27005929|PMID:27066506|PMID:27108529|PMID:27135274|PMID:27153395|PMID:27173948|PMID:2732257|PMID:27332903|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27576561|PMID:27600940|PMID:27618852|PMID:27650965|PMID:27662471|PMID:27688314|PMID:27737317|PMID:27841901|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28087566|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28241245|PMID:28254189|PMID:28255936|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:28747690|PMID:28771489|PMID:28790153|PMID:28794111|PMID:2879709|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28855170|PMID:28971120|PMID:29021349|PMID:29121657|PMID:29192238|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29300372|PMID:29398688|PMID:29447731|PMID:29497013|PMID:29511324|PMID:29524613|PMID:29540472|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29709087|PMID:29710196 8714363 Mybpc3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:29759671|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:30009132|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30327538|PMID:30550750|PMID:30571196|PMID:30609409|PMID:30611859|PMID:30615648|PMID:30645170|PMID:30665703|PMID:30669812|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30763825|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30984009|PMID:31006259|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31229680|PMID:31293105|PMID:31308319|PMID:31376648|PMID:31397097|PMID:31424582|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31660989|PMID:31677916|PMID:31729605|PMID:31737537|PMID:31771441|PMID:31901299|PMID:31918855|PMID:31931689|PMID:31941943|PMID:31983221|PMID:32009526|PMID:32034629|PMID:32041989|PMID:32163302|PMID:32183154|PMID:32228044|PMID:32250699|PMID:32355288|PMID:32369506|PMID:32380161|PMID:32396390|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32588587|PMID:32600061|PMID:32659924|PMID:32686758|PMID:32710830|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32826072|PMID:32830170|PMID:32841044|PMID:32880476|PMID:32888301|PMID:32901917|PMID:33029862|PMID:33087929|PMID:33190526|PMID:33297573|PMID:33407484|PMID:33432171|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33588347|PMID:33658040|PMID:33662488|PMID:33673806|PMID:33732734|PMID:33782553|PMID:33830315|PMID:33874732|PMID:33892289|PMID:33906374|PMID:33954932|PMID:33996946|PMID:34076677|PMID:34087240|PMID:34097875|PMID:34389451|PMID:34400558|PMID:34426522|PMID:34428338|PMID:34461741|PMID:34540771|PMID:34542152|PMID:34556856|PMID:34601892|PMID:34694434|PMID:34714385|PMID:34769381|PMID:34785479|PMID:34935411|PMID:35026164|PMID:35176171|PMID:35177841|PMID:35199016|PMID:35208637|PMID:35227736|PMID:35257994|PMID:35265679|PMID:35288587|PMID:35304488|PMID:35411935|PMID:35508642|PMID:35535697|PMID:35581268|PMID:35626289|PMID:35629155|PMID:35653365|PMID:35934244|PMID:35947370|PMID:36005429|PMID:36138163|PMID:36162733|PMID:36166435|PMID:36252119|PMID:36264615|PMID:36291626|PMID:36352534|PMID:36357371|PMID:36588553|PMID:36788754|PMID:37089884|PMID:37194601|PMID:37466024|PMID:37477868|PMID:37652022|PMID:37821546|PMID:37844837|PMID:37904629|PMID:37937352|PMID:37937776|PMID:37949234|PMID:38002985|PMID:38008210|PMID:38104429|PMID:38254962|PMID:38259611|PMID:38296580|PMID:38417376|PMID:38456273|PMID:38489124|PMID:38642550|PMID:38757491|PMID:38836037|PMID:38895864|PMID:38938358|PMID:38999502|PMID:39001760|PMID:39125703|PMID:39160446|PMID:39272661|PMID:39472908|PMID:39486665|PMID:39554508|PMID:39633578|PMID:39684611|PMID:40115818|PMID:7493025|PMID:7493026|PMID:9048664|PMID:9536098|PMID:9541115|PMID:9562578|PMID:9631872 8714363 Mybpc3 myosin binding protein C3 gene DOID:0050731 vitamin B12 deficiency ISO RGD:1314284 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Cobalamin deficiency PMID:15519027|PMID:19574547|PMID:21959974|PMID:25741868|PMID:28492532|PMID:28640247|PMID:30550750 8714363 Mybpc3 myosin binding protein C3 gene DOID:0060319 cardiac arrest ISO RGD:1314284 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Cardiac arrest PMID:22958901|PMID:24510615|PMID:25637381|PMID:25741868|PMID:27332903|PMID:28492532|PMID:28790153|PMID:29247119|PMID:34935411|PMID:36252119|PMID:37652022 8714363 Mybpc3 myosin binding protein C3 gene DOID:0060480 left ventricular noncompaction ISO RGD:1314284 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction PMID:22464770|PMID:24503780|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28640247|PMID:30188508|PMID:30297972|PMID:30847666|PMID:32600061|PMID:32841044|PMID:33782553|PMID:37652022 8714363 Mybpc3 myosin binding protein C3 gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:1314284 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 8714363 Mybpc3 myosin binding protein C3 gene DOID:0070168 spermatogenic failure 3 ISO RGD:1314284 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:11499718|PMID:15519027|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:22857948|PMID:23396983|PMID:23861362|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:29300372|PMID:29447731|PMID:29907873|PMID:30696458|PMID:30871747|PMID:32746448|PMID:32841044|PMID:33407484|PMID:33782553|PMID:34400558|PMID:35535697|PMID:35626289|PMID:36252119|PMID:36357371|PMID:38104429|PMID:38254962|PMID:38999502|PMID:39125703|PMID:39160446|PMID:39554508|PMID:9562578 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 20260616 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:11815426|PMID:11847170|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12386147|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15519027|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16831826|PMID:16858239|PMID:17560888|PMID:17576681|PMID:17937428|PMID:18258667|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:18533079|PMID:18761664|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19150014|PMID:19273718|PMID:19356534|PMID:19574547|PMID:19659763|PMID:19808356|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20045868|PMID:20173211|PMID:20378854|PMID:20433692|PMID:20435227|PMID:20474083|PMID:20505798|PMID:20530761|PMID:20594303|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20864638|PMID:21185001|PMID:21239446|PMID:21302287|PMID:21472310|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21817903|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21890325|PMID:21959974|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22267749|PMID:22464770|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23508784|PMID:23527136|PMID:23549607|PMID:23674513|PMID:23690394|PMID:23782526|PMID:23820649|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24510615|PMID:24704860|PMID:24793961|PMID:25031304|PMID:25078086|PMID:25086479|PMID:25210889|PMID:25228707|PMID:25262865|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25611685|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:26090888|PMID:26332594|PMID:26467025|PMID:26489474|PMID:26671970|PMID:26688216|PMID:26914223|PMID:27108529|PMID:27173948|PMID:2732257|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27600940|PMID:27620334|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27885498|PMID:28024942|PMID:28087566|PMID:28138913|PMID:28193612|PMID:28241245|PMID:28254189|PMID:28356264|PMID:28408708|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28538763|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28971120|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29300372|PMID:29447731|PMID:29511324|PMID:29661763|PMID:29663722|PMID:29709087|PMID:29759671|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29988065|PMID:30025578|PMID:30291343|PMID:30297972|PMID:30550750|PMID:30609409|PMID:30645170|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30763825|PMID:30775854|PMID:30847666|PMID:30871747|PMID:31006259|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31534214|PMID:31737537|PMID:31941943|PMID:31983221|PMID:32009526|PMID:32163302|PMID:32228044|PMID:32369506|PMID:32396390|PMID:32480058|PMID:32588587|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32830170|PMID:32841044|PMID:32880476|PMID:33029862|PMID:33087929|PMID:33407484|PMID:33495596|PMID:33495597|PMID:33662488|PMID:33673806|PMID:33732734|PMID:33782553|PMID:33874732|PMID:33996946|PMID:34076677|PMID:34097875|PMID:34389451|PMID:34400558|PMID:34556856|PMID:34714385|PMID:35199016|PMID:35288587|PMID:35535697|PMID:35626289|PMID:35653365|PMID:35838873|PMID:36138163|PMID:36162733|PMID:36252119|PMID:36264615|PMID:36291626|PMID:36357371|PMID:37194601|PMID:37477868|PMID:37652022|PMID:37821546|PMID:37844837|PMID:37904629|PMID:38002985|PMID:38104429|PMID:38254962|PMID:38259611|PMID:38489124|PMID:38642550|PMID:38757491|PMID:38836037|PMID:38938358|PMID:38999502|PMID:39125703|PMID:39160446|PMID:39486665|PMID:39554508|PMID:39633578|PMID:7493025|PMID:9048664|PMID:9241277|PMID:9536098|PMID:9562578|PMID:9631872 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 20260616 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, 1MM | ClinVar Annotator: match by term: Left ventricular noncompaction 10 PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11815426|PMID:11847170|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12379228|PMID:12386147|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15519027|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17576681|PMID:17937428|PMID:18258667|PMID:18337725|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:18533079|PMID:18761664|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19150014|PMID:19273718|PMID:19356534|PMID:19574547|PMID:19659763|PMID:19808356|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20045868|PMID:20051424|PMID:20173211|PMID:20215591|PMID:20359594|PMID:20378854|PMID:20433692|PMID:20435227|PMID:20474083|PMID:20505798|PMID:20594303|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20864638|PMID:21185001|PMID:21239446|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21415409|PMID:21472310|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21959974|PMID:22057632|PMID:22115648|PMID:22173300|PMID:22177269|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22429680|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22958901|PMID:23054336|PMID:23074333|PMID:23197398|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23406853|PMID:23418438|PMID:23508784|PMID:23527136|PMID:23549607|PMID:23674513|PMID:23690394|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24503780|PMID:24510615|PMID:24704860|PMID:24721642|PMID:24774605|PMID:24774606|PMID:24793961|PMID:24795128|PMID:25031304|PMID:25078086|PMID:25086479|PMID:25132132|PMID:25163546|PMID:25262865|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25611685|PMID:25635128|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:26090888|PMID:26223264|PMID:26332594|PMID:26467025|PMID:26489474|PMID:26671970|PMID:26688216|PMID:26743238|PMID:26914223|PMID:27066506|PMID:27108529|PMID:27153395|PMID:27173948|PMID:27332903|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27576561|PMID:27600940|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27841901|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28087566|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28241245|PMID:28254189|PMID:28255936|PMID:28356264|PMID:28408708|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28747690|PMID:28749478|PMID:28771489|PMID:28790153|PMID:28794111|PMID:2879709|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28971120|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29300372|PMID:29447731|PMID:29511324|PMID:29524613|PMID:29540472|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29759671|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:30009132|PMID:30025578|PMID:30206291|PMID:30297972|PMID:30550750|PMID:30571196|PMID:30609409|PMID:30645170|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30924982|PMID:31006259|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31229680|PMID:31308319|PMID:31376648|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31534214|PMID:31568572|PMID:31729605|PMID:31737537|PMID:31771441|PMID:31901299|PMID:31918855|PMID:31941943|PMID:31983221|PMID:32009526|PMID:32163302|PMID:32183154|PMID:32250699|PMID:32344918|PMID:32369506|PMID:32396390|PMID:32481709|PMID:32600061|PMID:32686758|PMID:32710830|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32841044|PMID:32880476|PMID:33029862|PMID:33407484|PMID:33432171|PMID:33495596|PMID:33495597|PMID:33658040|PMID:33673806|PMID:33782553|PMID:3378553 8714363 Mybpc3 myosin binding protein C3 gene DOID:0081158 dilated cardiomyopathy 1MM ISO RGD:1314284 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, 1MM | ClinVar Annotator: match by term: Left ventricular noncompaction 10 PMID:33892289|PMID:33954932|PMID:33996946|PMID:34076677|PMID:34097875|PMID:34137518|PMID:34389451|PMID:34400558|PMID:34426522|PMID:34428338|PMID:34540771|PMID:34714385|PMID:34935411|PMID:35026164|PMID:35199016|PMID:35208637|PMID:35265679|PMID:35411935|PMID:35508642|PMID:35535697|PMID:35581268|PMID:35626289|PMID:35629155|PMID:35653365|PMID:35934244|PMID:36005429|PMID:36138163|PMID:36162733|PMID:36166435|PMID:36252119|PMID:36264615|PMID:36291626|PMID:36357371|PMID:37089884|PMID:37466024|PMID:37652022|PMID:37821546|PMID:37844837|PMID:37904629|PMID:37937776|PMID:38002985|PMID:38104429|PMID:38254962|PMID:38259611|PMID:38456273|PMID:38489124|PMID:38938358|PMID:38999502|PMID:39001760|PMID:39125703|PMID:39160446|PMID:39486665|PMID:39554508|PMID:39684611|PMID:7493025|PMID:9048664|PMID:9536098|PMID:9562578|PMID:9631872 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: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 20250408 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:17823372|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 8714363 Mybpc3 myosin binding protein C3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1314284 D RGD:8554872 20250408 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:27535533|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:38094187|PMID:38489124|PMID:38540378|PMID:38757491|PMID:38836037|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 20250513 ClinVar 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:10024348|PMID:10521296|PMID:10610770|PMID:10736283|PMID:11322659|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11814735|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:17532296|PMID:17560888|PMID:17576681|PMID:17823372|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:18698230|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:19387866|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:21598360|PMID:21638988|PMID:2171331|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:22190617|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:23935525|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:25892673|PMID:25971843|PMID:26090888|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26271555|PMID:26332198|PMID:26332594|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 8714363 Mybpc3 myosin binding protein C3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1314284 D RGD:8554872 20250513 ClinVar 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:27267291|PMID:2732257|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27535533|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27620334|PMID:27650965|PMID:27657681|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27884173|PMID:27885498|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: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:29758562|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29907873|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: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:32341788|PMID:32369506|PMID:32380161|PMID:32420109|PMID:32451163|PMID:32461654|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32588587|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32830170|PMID:32841044|PMID:32880476|PMID:33029862|PMID:33087929|PMID:33095980|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:33946315|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:38094187|PMID:38489124|PMID:38540378|PMID:38757491|PMID:38836037|PMID:397516074|PMID:3980194|PMID:40115818|PMID:739990|PMID:747929|PMID:7493025|PMID:7493026|PMID:8898206|PMID:9048664|PMID:9241277|PMID:9395081|PMID:9488686|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 20260616 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:12566107|PMID:12628722|PMID:12707239|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15519027|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16831826|PMID:16858239|PMID:17560888|PMID:17576681|PMID:17937428|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:18533079|PMID:18761664|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19150014|PMID:19273718|PMID:19356534|PMID:19574547|PMID:19659763|PMID:19808356|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20045868|PMID:20173211|PMID:20378854|PMID:20433692|PMID:20435227|PMID:20474083|PMID:20505798|PMID:20530761|PMID:20594303|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20864638|PMID:21185001|PMID:21239446|PMID:21302287|PMID:21472310|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21890325|PMID:21959974|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22267749|PMID:22464770|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23508784|PMID:23527136|PMID:23549607|PMID:23674513|PMID:23690394|PMID:23782526|PMID:23820649|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24510615|PMID:24704860|PMID:24793961|PMID:25031304|PMID:25078086|PMID:25086479|PMID:25210889|PMID:25262865|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25447171|PMID:25524337|PMID:25543971|PMID:25611685|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:26090888|PMID:26332594|PMID:26467025|PMID:26489474|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26914223|PMID:27108529|PMID:27173948|PMID:2732257|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27600940|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27885498|PMID:28024942|PMID:28087566|PMID:28138913|PMID:28193612|PMID:28241245|PMID:28254189|PMID:28356264|PMID:28408708|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28538763|PMID:28611029|PMID:28615295|PMID:28658286|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28971120|PMID:29021349|PMID:29030401|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29300372|PMID:29447731|PMID:29511324|PMID:29661763|PMID:29663722|PMID:29709087|PMID:29759671|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29988065|PMID:30025578|PMID:30291343|PMID:30297972|PMID:30550750|PMID:30609409|PMID:30645170|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30763825|PMID:30775854|PMID:30847666|PMID:30871747|PMID:31006259|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31534214|PMID:31737537|PMID:31941943|PMID:32009526|PMID:32163302|PMID:32228044|PMID:32369506|PMID:32396390|PMID:32480058|PMID:32588587|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32830170|PMID:32841044|PMID:32880476|PMID:33190526|PMID:33407484|PMID:33495596|PMID:33495597|PMID:33662488|PMID:33673806|PMID:33732734|PMID:33782553|PMID:33874732|PMID:33996946|PMID:34076677|PMID:34097875|PMID:34389451|PMID:34400558|PMID:34556856|PMID:34714385|PMID:35199016|PMID:35288587|PMID:35411935|PMID:35508642|PMID:35535697|PMID:35581268|PMID:35626289|PMID:35653365|PMID:36138163|PMID:36162733|PMID:36252119|PMID:36264615|PMID:36291626|PMID:36357371|PMID:36578016|PMID:37194601|PMID:37477868|PMID:37652022|PMID:37821546|PMID:37844837|PMID:37904629|PMID:38002985|PMID:38104429|PMID:38254962|PMID:38259611|PMID:38489124|PMID:38642550|PMID:38757491|PMID:38836037|PMID:38938358|PMID:38999502|PMID:39125703|PMID:39160446|PMID:39472908|PMID:39486665|PMID:39554508|PMID:39633578|PMID:7493025|PMID:9048664|PMID:9241277|PMID:9536098|PMID:9562578|PMID:9631872 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 20260616 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4 | 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:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11835941|PMID:11847170|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12386147|PMID:12566107|PMID:12601548|PMID:12628722|PMID:12707239|PMID:12788380|PMID:12818575|PMID:12881443|PMID:12951062|PMID:12974739|PMID:14563344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15358028|PMID:15519027|PMID:15856146|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17263690|PMID:17394878|PMID:17560888|PMID:17576681|PMID:17823372|PMID:17937428|PMID:17947214|PMID:18258667|PMID:18273486|PMID:18337725|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:18533079|PMID:18761664|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19149795|PMID:19150014|PMID:19151713|PMID:19273718|PMID:19356534|PMID:19574547|PMID:19659763|PMID:19808356|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20173211|PMID:20201939|PMID:20215591|PMID:20359594|PMID:20378854|PMID:20433692|PMID:20435227|PMID:20458009|PMID:20474083|PMID:20505798|PMID:20513729|PMID:20530761|PMID:20594303|PMID:20605413|PMID:20624503|PMID:20641121|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20864638|PMID:20975235|PMID:21165360|PMID:21185001|PMID:21185128|PMID:21239446|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21415409|PMID:21472310|PMID:21488259|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21799269|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21896538|PMID:21915287|PMID:21943931|PMID:21959974|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22173300|PMID:22177269|PMID:22178992|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22429680|PMID:22464770|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:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23406853|PMID:23418438|PMID:23508784|PMID:23527136|PMID:23549607|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23782526|PMID:23820649|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24327208|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774605|PMID:24774606|PMID:24793961|PMID:24795128|PMID:25031304|PMID:25034069|PMID:25078086|PMID:25086479|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25228707|PMID:25262865|PMID:25326637|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25583989|PMID:25611685|PMID:25635128|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:26090888|PMID:26223264|PMID:26332594|PMID:26467025|PMID:26489474|PMID:26633542|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26688388|PMID:26743238|PMID:26914223|PMID:27066506|PMID:27108529|PMID:27153395|PMID:27173948|PMID:2732257|PMID:27332903|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27576561|PMID:27600940|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27841901|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28087566|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28241245|PMID:28254189|PMID:28255936|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28566242|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28747690|PMID:28749478|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:2879709|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28971120|PMID:29095814|PMID:29121657|PMID:2921289|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29300372|PMID:29398688|PMID:29447731|PMID:29511324|PMID:29524613|PMID:29540472|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29709087 8714363 Mybpc3 myosin binding protein C3 gene DOID:0110310 hypertrophic cardiomyopathy 4 ISO RGD:1314284 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4 | 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:29710196|PMID:29758562|PMID:29759638|PMID:29759671|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:30009132|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30327538|PMID:30550750|PMID:30571196|PMID:30606897|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30665703|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30763825|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30959811|PMID:31006259|PMID:31050699|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31229680|PMID:31293105|PMID:31308319|PMID:31376648|PMID:31424582|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31534214|PMID:31568572|PMID:31729605|PMID:31737537|PMID:31771441|PMID:31877118|PMID:31901299|PMID:31918855|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32041989|PMID:32163302|PMID:32183154|PMID:32228044|PMID:32250699|PMID:32344918|PMID:32369506|PMID:32380161|PMID:32396390|PMID:32480058|PMID:32481709|PMID:32543992|PMID:32588587|PMID:32600061|PMID:32659924|PMID:32686758|PMID:32710830|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32826072|PMID:32841044|PMID:32880476|PMID:33029862|PMID:33190526|PMID:33407484|PMID:33432171|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33530161|PMID:33657327|PMID:33658040|PMID:33662488|PMID:33673806|PMID:33732734|PMID:33782553|PMID:3378553|PMID:33874732|PMID:33892289|PMID:33954932|PMID:33996946|PMID:34008892|PMID:34076677|PMID:34087240|PMID:34097875|PMID:34137518|PMID:34389451|PMID:34400558|PMID:34426522|PMID:34428338|PMID:34461741|PMID:34540771|PMID:34542152|PMID:34555931|PMID:34556856|PMID:34601892|PMID:34694434|PMID:34714385|PMID:34785479|PMID:34935411|PMID:35026164|PMID:35176171|PMID:35199016|PMID:35208637|PMID:35257994|PMID:35265679|PMID:35284542|PMID:35288587|PMID:35411935|PMID:35508642|PMID:35535697|PMID:35581268|PMID:35626289|PMID:35629155|PMID:35653365|PMID:35934244|PMID:36005429|PMID:36138163|PMID:36162733|PMID:36166435|PMID:36252119|PMID:36264615|PMID:36291626|PMID:36352534|PMID:36357371|PMID:36578016|PMID:37089884|PMID:37194601|PMID:37352859|PMID:37466024|PMID:37477868|PMID:37652022|PMID:37821546|PMID:37844837|PMID:37904629|PMID:37929589|PMID:37937352|PMID:37937776|PMID:37949234|PMID:38002985|PMID:38104429|PMID:38254962|PMID:38259611|PMID:38456273|PMID:38489124|PMID:38549855|PMID:38642550|PMID:38757491|PMID:38836037|PMID:38938358|PMID:38999502|PMID:39001760|PMID:39125703|PMID:39160446|PMID:39456977|PMID:39472908|PMID:39486665|PMID:39554508|PMID:39633578|PMID:39684611|PMID:39769170|PMID:7352859|PMID:7493025|PMID:7493026|PMID:8655135|PMID:9048664|PMID:9218526|PMID:9241277|PMID:9536098|PMID:9562578|PMID:9631872 8714363 Mybpc3 myosin binding protein C3 gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1314284 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:11499718|PMID:11815426|PMID:12110947|PMID:12707239|PMID:12818575|PMID:12974739|PMID:15519027|PMID:16199542|PMID:16858239|PMID:20045868|PMID:20215591|PMID:20435227|PMID:22337857|PMID:22958901|PMID:23861362|PMID:24033266|PMID:25741868|PMID:27600940|PMID:28492532|PMID:28679633|PMID:31931689|PMID:31983221|PMID:33432171|PMID:38489124 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: Hirschsprung Disease PMID:25741868 8714363 Mybpc3 myosin binding protein C3 gene DOID:10534 stomach cancer ISO RGD:1314284 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 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:1115 sarcoma ISO RGD:1314284 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8714363 Mybpc3 myosin binding protein C3 gene DOID:11162 respiratory failure ISO RGD:1314284 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Respiratory failure PMID:16199547|PMID:19574547|PMID:25351510|PMID:25741868|PMID:27532257|PMID:28492532|PMID:30297972|PMID:37652022 8714363 Mybpc3 myosin binding protein C3 gene DOID:11830 myopia ISO RGD:1314284 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Myopia PMID:11499718|PMID:12202917|PMID:15519027|PMID:19574547|PMID:20474083|PMID:20864638|PMID:23549607|PMID:24510615|PMID:25031304|PMID:25714468|PMID:25741868|PMID:27532257|PMID:28492532|PMID:29875314|PMID:33495597|PMID:34542152|PMID:7493025 8714363 Mybpc3 myosin binding protein C3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1314284 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic | ClinVar Annotator: match by term: Hypertrophic Cardiomyopathy | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy | ClinVar Annotator: match by term: hypertrophic cardiomyopathy PMID:10521296|PMID:10610770|PMID:10736283|PMID:11|PMID:11499718|PMID:11499719|PMID:11815426|PMID:11835941|PMID:11847170|PMID:12110947|PMID:12202917|PMID:12386140|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:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15370892|PMID:15519027|PMID:15563892|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16335287|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16799241|PMID:16858239|PMID:17263690|PMID:17394878|PMID:17560888|PMID:17576681|PMID:17823372|PMID:17937428|PMID:17947214|PMID:18258667|PMID:18273486|PMID:18337725|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18803133|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19134269|PMID:19149795|PMID:19150014|PMID:19151713|PMID:19237661|PMID:19273718|PMID:19356534|PMID:19406073|PMID:19543287|PMID:19574547|PMID:19659763|PMID:19763152|PMID:19808356|PMID:19996403|PMID:20019025|PMID:20021930|PMID:20031602|PMID:20031618|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20173211|PMID:2021|PMID:20215591|PMID:20307669|PMID:20359594|PMID:20378854|PMID:20433692|PMID:20435227|PMID:20458009|PMID:20474083|PMID:20505798|PMID:20513729|PMID:20530761|PMID:20594303|PMID:20605413|PMID:20624503|PMID:20641121|PMID:20689143|PMID:20738943|PMID:20800588|PMID:20864638|PMID:20975235|PMID:21165360|PMID:21185001|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21415409|PMID:21425739|PMID:21472310|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21799269|PMID:21817903|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21890325|PMID:21896538|PMID:21915287|PMID:21943931|PMID:21959974|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:22464770|PMID:22560514|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22989827|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23233322|PMID:23277198|PMID:23283745|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23406853|PMID:23418438|PMID:23508784|PMID:23527136|PMID:23549607|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23782526|PMID:23816408|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24503780|PMID:24510615|PMID:24530899|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774605|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24865491|PMID:25031304|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25228707|PMID:25262865|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25447171|PMID:25512492|PMID:25524337|PMID:25525159|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:26090888|PMID:26163040|PMID:26178432|PMID:26223264|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26455666|PMID:26467025|PMID:26489474|PMID:26633542|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26688388|PMID:26743238|PMID:26914223|PMID:27005929|PMID:27066506|PMID:27066507|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27135274|PMID:27153395|PMID:27173948|PMID:27194543|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27535533|PMID:27574918|PMID:27576561|PMID:27590665|PMID:27600940|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28029522|PMID:28074886 8714363 Mybpc3 myosin binding protein C3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1314284 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic | ClinVar Annotator: match by term: Hypertrophic Cardiomyopathy | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy | ClinVar Annotator: match by term: hypertrophic cardiomyopathy PMID:28087566|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28214152|PMID:28241245|PMID:28255936|PMID:28265379|PMID:28327871|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28450932|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28694399|PMID:28704380|PMID:28747690|PMID:28749478|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28807990|PMID:28822653|PMID:28840316|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29121657|PMID:29192238|PMID:29212898|PMID:29219260|PMID:29237689|PMID:29247119|PMID:29255176|PMID:29300372|PMID:29398688|PMID:29447731|PMID:29493010|PMID:29497013|PMID:29524613|PMID:29540472|PMID:29565423|PMID:29631964|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:30009132|PMID:30025578|PMID:30086531|PMID:30105547|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30327538|PMID:30425207|PMID:30446606|PMID:30456444|PMID:30550750|PMID:30571196|PMID:30586709|PMID:30611859|PMID:30615648|PMID:30645170|PMID:30665703|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30763825|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30924982|PMID:30959811|PMID:31006259|PMID:31110529|PMID:31112421|PMID:31199839|PMID:31219556|PMID:31229680|PMID:31293105|PMID:31308319|PMID:31317183|PMID:31323898|PMID:31333075|PMID:31376648|PMID:31397097|PMID:31402444|PMID:31424582|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31568572|PMID:31677916|PMID:31729605|PMID:31730716|PMID:31737537|PMID:31764239|PMID:31771441|PMID:31901299|PMID:31912959|PMID:31918855|PMID:31931689|PMID:31941943|PMID:31983221|PMID:32009526|PMID:32034629|PMID:32041989|PMID:32183154|PMID:32228044|PMID:32250699|PMID:32341788|PMID:32344918|PMID:32355288|PMID:32356610|PMID:32369506|PMID:32380161|PMID:32451364|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32519640|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:33012304|PMID:33029862|PMID:33087929|PMID:33190517|PMID:33190526|PMID:33232181|PMID:33241513|PMID:33258288|PMID:33297573|PMID:33302605|PMID:33407484|PMID:33432171|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33586461|PMID:33658040|PMID:33662488|PMID:33673806|PMID:33732734|PMID:33782553|PMID:3378553|PMID:33874732|PMID:33892289|PMID:33906374|PMID:33954932|PMID:33996946|PMID:34076677|PMID:34087240|PMID:34097875|PMID:34137518|PMID:34263907|PMID:34310159|PMID:34389451|PMID:34400558|PMID:34426522|PMID:34428338|PMID:34461741|PMID:34503678|PMID:34540771|PMID:34542152|PMID:34556856|PMID:34601892|PMID:34680864|PMID:34694434|PMID:34714385|PMID:34785479|PMID:34819141|PMID:34935411|PMID:35026164|PMID:35176171|PMID:35199016|PMID:35208637|PMID:35227736|PMID:35257994|PMID:35265679|PMID:35284542|PMID:35288587|PMID:35304488|PMID:35411935|PMID:35508642|PMID:35535697|PMID:35581268|PMID:35626289|PMID:35629155|PMID:35653365|PMID:35717150|PMID:35838873|PMID:35934244|PMID:35947370|PMID:36005429|PMID:36008935|PMID:36082122|PMID:36136372|PMID:36162733|PMID:36166435|PMID:36203036|PMID:36252119|PMID:36264615|PMID:36291626|PMID:36352534|PMID:36357371|PMID:36357925|PMID:36370805|PMID:36474027|PMID:36481846|PMID:36578016|PMID:36788754|PMID:37002766|PMID:37089884|PMID:37194601|PMID:37342443|PMID:37466024|PMID:37477868|PMID:37589201|PMID:37652022|PMID:37750083|PMID:37797718|PMID:37821546|PMID:37844837|PMID:37904629|PMID:37937352|PMID:37937776|PMID:37949234|PMID:38002985|PMID:38008210|PMID:38042491|PMID:38104429|PMID:38254962|PMID:38259611|PMID:38456273|PMID:38489124|PMID:38642550|PMID:38691546|PMID:38757491|PMID:38811883|PMID:38836037|PMID:38895864|PMID:38938358|PMID:38999502|PMID:39001760|PMID:39125703 8714363 Mybpc3 myosin binding protein C3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1314284 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic | ClinVar Annotator: match by term: Hypertrophic Cardiomyopathy | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy | ClinVar Annotator: match by term: hypertrophic cardiomyopathy PMID:39160446|PMID:39260623|PMID:39272661|PMID:39472908|PMID:39481677|PMID:39486665|PMID:39554508|PMID:39633578|PMID:39684611|PMID:39895654|PMID:73|PMID:7493025|PMID:7493026|PMID:83|PMID:8533079|PMID:9048664|PMID:9218526|PMID:9241277|PMID:9536098|PMID:9541100|PMID:9541104|PMID:9562578|PMID:9742053 8714363 Mybpc3 myosin binding protein C3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1314284 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic | ClinVar Annotator: match by term: Hypertrophic Cardiomyopathy | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy | ClinVar Annotator: match by term: hypertrophic cardiomyopathy PMID:10521296|PMID:10610770|PMID:10736283|PMID:11|PMID:11499718|PMID:11499719|PMID:11815426|PMID:11835941|PMID:11847170|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12386140|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:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15370892|PMID:15519027|PMID:15563892|PMID:15769446|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16335287|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16799241|PMID:16831826|PMID:16858239|PMID:17263690|PMID:17394878|PMID:17560888|PMID:17576681|PMID:17823372|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:18533079|PMID:18713777|PMID:18761664|PMID:18803133|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19134269|PMID:19149795|PMID:19150014|PMID:19151713|PMID:19237661|PMID:19273718|PMID:19356534|PMID:19406073|PMID:19543287|PMID:19574547|PMID:19590044|PMID:19659763|PMID:19763152|PMID:19808356|PMID:19996403|PMID:20019025|PMID:20021930|PMID:20031602|PMID:20031618|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:2021|PMID:20215591|PMID:20307669|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20505798|PMID:20513729|PMID:20530761|PMID:20594303|PMID:20605413|PMID:20624503|PMID:20641121|PMID:20689143|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20864638|PMID:20975235|PMID:21165360|PMID:21185001|PMID:21239446|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21415409|PMID:21425739|PMID:21472310|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21799269|PMID:21817903|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21890325|PMID:21896538|PMID:21915287|PMID:21943931|PMID:21959974|PMID:22057632|PMID:22112859|PMID:22115648|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:22464770|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:23197398|PMID:23217326|PMID:23233322|PMID:23277198|PMID:23283745|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23406853|PMID:23418438|PMID:23508784|PMID:23527136|PMID:23549607|PMID:2367451|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23782526|PMID:23816408|PMID:23820649|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24503780|PMID:24510615|PMID:24530899|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774605|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24865491|PMID:25031304|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25228707|PMID:25262865|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25447171|PMID:25512492|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25611685|PMID:25634555|PMID:25635128|PMID:25637381|PMID:25640679|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25741891|PMID:2584960|PMID:25849606|PMID:25971843|PMID:26090888|PMID:26163040|PMID:26178432|PMID:26223264|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26455666|PMID:26467025|PMID:26489474|PMID:26633542|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26688388|PMID:26743238|PMID:26869393|PMID:26914223|PMID:27005929|PMID:27066506|PMID:27066507|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27135274|PMID:27153395|PMID:27173948|PMID:27194543|PMID:2732257|PMID:27332903|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27574918|PMID:27576561|PMID:27600940|PMID:27650965|PMID:27688314|PMID:27737317 8714363 Mybpc3 myosin binding protein C3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1314284 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic | ClinVar Annotator: match by term: Hypertrophic Cardiomyopathy | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy | ClinVar Annotator: match by term: hypertrophic cardiomyopathy PMID:27831900|PMID:27834932|PMID:27840609|PMID:27841901|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28029522|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28214152|PMID:28241245|PMID:28254189|PMID:28255936|PMID:28265379|PMID:28327871|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:28694399|PMID:28704380|PMID:28747690|PMID:28749478|PMID:28771489|PMID:28790153|PMID:28794111|PMID:2879709|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28822653|PMID:28840316|PMID:28971120|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29121657|PMID:29192238|PMID:29212898|PMID:29219260|PMID:29237689|PMID:29247119|PMID:29255176|PMID:29300372|PMID:29398688|PMID:29447731|PMID:29493010|PMID:29497013|PMID:29511324|PMID:29524613|PMID:29540472|PMID:29565423|PMID:29631964|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:30009132|PMID:30025578|PMID:30086531|PMID:30105547|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30327538|PMID:30425207|PMID:30446606|PMID:30456444|PMID:30550750|PMID:30571196|PMID:30586709|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:30847666|PMID:30871747|PMID:30924982|PMID:30959811|PMID:31006259|PMID:31110529|PMID:31112421|PMID:31199839|PMID:31219556|PMID:31229680|PMID:31293105|PMID:31308319|PMID:31317183|PMID:31323898|PMID:31376648|PMID:31397097|PMID:31402444|PMID:31424582|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31534214|PMID:31568572|PMID:31677916|PMID:31729605|PMID:31730716|PMID:31737537|PMID:31764239|PMID:31771441|PMID:31901299|PMID:31912959|PMID:31918855|PMID:31931689|PMID:31941943|PMID:31983221|PMID:32009526|PMID:32034629|PMID:32041989|PMID:32123317|PMID:32163302|PMID:32183154|PMID:32228044|PMID:32250699|PMID:32344918|PMID:32355288|PMID:32356610|PMID:32369506|PMID:32380161|PMID:32396390|PMID:32451364|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32519640|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:32880476|PMID:33012304|PMID:33029862|PMID:33087929|PMID:33190517|PMID:33190526|PMID:33232181|PMID:33241513|PMID:33258288|PMID:33297573|PMID:33302605|PMID:33407484|PMID:33432171|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33586461|PMID:33658040|PMID:33662488|PMID:33673806|PMID:33732734|PMID:33782553|PMID:3378553|PMID:33874732|PMID:33892289|PMID:33906374|PMID:33954932|PMID:33996946|PMID:34076677|PMID:34087240|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34263907|PMID:34310159|PMID:34389451|PMID:34400558|PMID:34426522|PMID:34428338|PMID:34461741|PMID:34503678|PMID:34540771|PMID:34542152|PMID:34556856|PMID:34601892|PMID:34680864|PMID:34694434|PMID:34714385|PMID:34785479|PMID:34819141|PMID:34935411|PMID:35026164|PMID:35176171|PMID:35199016|PMID:35208637|PMID:35227736|PMID:35257994|PMID:35265679|PMID:35284542|PMID:35288587|PMID:35304488|PMID:35411935|PMID:35508642|PMID:35535697|PMID:35581268|PMID:35626289|PMID:35629155|PMID:35653365|PMID:35717150|PMID:35838873|PMID:35934244|PMID:35947370|PMID:36005429|PMID:36008935|PMID:36082122|PMID:36138163|PMID:36162733|PMID:36166435|PMID:36203036|PMID:36252119|PMID:36264615|PMID:36291626|PMID:36352534|PMID:36357371|PMID:36357925|PMID:36370805|PMID:36481846|PMID:36578016|PMID:36788754|PMID:37002766|PMID:37089884|PMID:37194601|PMID:37342443|PMID:37466024|PMID:37477868|PMID:37498360|PMID:37589201|PMID:37652022|PMID:37750083|PMID:37797718|PMID:37821546|PMID:37844837|PMID:37904629|PMID:37937352|PMID:37937776|PMID:37949234 8714363 Mybpc3 myosin binding protein C3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1314284 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic | ClinVar Annotator: match by term: Hypertrophic Cardiomyopathy | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy | ClinVar Annotator: match by term: hypertrophic cardiomyopathy PMID:38002985|PMID:38008210|PMID:38042491|PMID:38104429|PMID:38254962|PMID:38259611|PMID:38456273|PMID:38489124|PMID:38642550|PMID:38691546|PMID:38757491|PMID:38811883|PMID:38836037|PMID:38895864|PMID:38938358|PMID:38999502|PMID:39001760|PMID:39125703|PMID:39160446|PMID:39272661|PMID:39472908|PMID:39486665|PMID:39554508|PMID:39633578|PMID:39684611|PMID:397516074|PMID:3980194|PMID:73|PMID:7493025|PMID:7493026|PMID:83|PMID:8533079|PMID:9048664|PMID:9218526|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9541100|PMID:9541104|PMID:9562578|PMID:9631872 8714363 Mybpc3 myosin binding protein C3 gene DOID:1287 cardiovascular system disease ISO RGD:1314284 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Abnormality of the cardiovascular system PMID:16199547|PMID:17937428|PMID:18403758|PMID:18467358|PMID:19574547|PMID:19808356|PMID:21835286|PMID:23054336|PMID:24510615|PMID:25031304|PMID:25335496|PMID:25741868|PMID:26914223|PMID:27532257|PMID:28492532|PMID:29121657|PMID:29212898|PMID:31447099|PMID:36162733|PMID:7493025 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 20250408 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | 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:12566107|PMID:12707239|PMID:12818575|PMID:12974739|PMID:14563344|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:1572569|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16715312|PMID:16858239|PMID:17560888|PMID:17823372|PMID:18533079|PMID:18761664|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:35653365|PMID:35838873|PMID:37652022|PMID:38094187|PMID:7493025|PMID:7493026|PMID:9048664|PMID:925171|PMID:9562578 8714363 Mybpc3 myosin binding protein C3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1314284 D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | 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:11499718|PMID:11499719|PMID:11815426|PMID:12110947|PMID:12202917|PMID:12566107|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:17823372|PMID:18533079|PMID:18761664|PMID:18929575|PMID:18957093|PMID:19150014|PMID:19574547|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20215591|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:35653365|PMID:35838873|PMID:36252119|PMID:37652022|PMID:38094187|PMID:38489124|PMID:7493025|PMID:7493026|PMID:9048664|PMID:9562578 8714363 Mybpc3 myosin binding protein C3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1314284 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Familial dilated cardiomyopathy | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11499718|PMID:11815426|PMID:12110947|PMID:12202917|PMID:12707239|PMID:12788380|PMID:12818575|PMID:12974739|PMID:15114369|PMID:15519027|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16715312|PMID:16858239|PMID:18533079|PMID:18929575|PMID:18957093|PMID:19150014|PMID:19574547|PMID:20031618|PMID:20045868|PMID:20215591|PMID:20435227|PMID:20458009|PMID:20474083|PMID:20513729|PMID:20624503|PMID:20800588|PMID:20864638|PMID:21239446|PMID:21302287|PMID:21750094|PMID:21839045|PMID:21959974|PMID:22122802|PMID:22337857|PMID:22763267|PMID:22857948|PMID:22958901|PMID:23054336|PMID:23140321|PMID:23197398|PMID:23233322|PMID:23299917|PMID:23396983|PMID:23549607|PMID:23861362|PMID:24033266|PMID:24093860|PMID:24111713|PMID:24510615|PMID:24793961|PMID:25031304|PMID:25086479|PMID:25132132|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:26332594|PMID:26467025|PMID:26633542|PMID:26743238|PMID:26914223|PMID:27153395|PMID:27332903|PMID:27418595|PMID:27532257|PMID:27600940|PMID:27650965|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28807990|PMID:28971120|PMID:29247119|PMID:29875314|PMID:29875424|PMID:29914921|PMID:30009132|PMID:30731207|PMID:30775854|PMID:31006259|PMID:31219556|PMID:31376648|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31931689|PMID:31983221|PMID:32009526|PMID:32250699|PMID:32731933|PMID:32841044|PMID:33087929|PMID:33432171|PMID:33495596|PMID:33495597|PMID:33673806|PMID:33782553|PMID:33892289|PMID:34310159|PMID:34389451|PMID:34400558|PMID:34426522|PMID:34503678|PMID:34542152|PMID:34935411|PMID:35265679|PMID:35411935|PMID:35581268|PMID:35653365|PMID:36252119|PMID:37466024|PMID:37652022|PMID:38489124|PMID:39684611|PMID:39895654|PMID:7493025|PMID:9562578 8714363 Mybpc3 myosin binding protein C3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1314284 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Familial dilated cardiomyopathy | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11499718|PMID:11815426|PMID:12110947|PMID:12202917|PMID:12707239|PMID:12788380|PMID:12818575|PMID:12974739|PMID:15114369|PMID:15519027|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16715312|PMID:16858239|PMID:18533079|PMID:18929575|PMID:18957093|PMID:19150014|PMID:19574547|PMID:20045868|PMID:20215591|PMID:20435227|PMID:20458009|PMID:20474083|PMID:20513729|PMID:20624503|PMID:20800588|PMID:20864638|PMID:21239446|PMID:21302287|PMID:21750094|PMID:21839045|PMID:21959974|PMID:22337857|PMID:22763267|PMID:22857948|PMID:22958901|PMID:23054336|PMID:23140321|PMID:23197398|PMID:23233322|PMID:23299917|PMID:23396983|PMID:23549607|PMID:23861362|PMID:24033266|PMID:24093860|PMID:24111713|PMID:24510615|PMID:24793961|PMID:25031304|PMID:25086479|PMID:25132132|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:26332594|PMID:26467025|PMID:26633542|PMID:27153395|PMID:27332903|PMID:27418595|PMID:27532257|PMID:27600940|PMID:27650965|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28807990|PMID:28971120|PMID:29247119|PMID:29875314|PMID:29875424|PMID:29914921|PMID:30009132|PMID:30731207|PMID:30775854|PMID:31219556|PMID:31376648|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31931689|PMID:31983221|PMID:32250699|PMID:32841044|PMID:33432171|PMID:33495596|PMID:33495597|PMID:33673806|PMID:33782553|PMID:33892289|PMID:34389451|PMID:34400558|PMID:34426522|PMID:34935411|PMID:35265679|PMID:35411935|PMID:35581268|PMID:35653365|PMID:36252119|PMID:37466024|PMID:37652022|PMID:38489124|PMID:39684611|PMID:7493025 8714363 Mybpc3 myosin binding protein C3 gene DOID:1324 lung cancer ISO RGD:1314284 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8714363 Mybpc3 myosin binding protein C3 gene DOID:1826 epilepsy ISO RGD:1314284 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:12788380|PMID:19574547|PMID:25741868|PMID:27532257|PMID:28492532|PMID:30442288|PMID:30731207|PMID:37652022 8714363 Mybpc3 myosin binding protein C3 gene DOID:1909 melanoma ISO RGD:1314284 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8714363 Mybpc3 myosin binding protein C3 gene DOID:2030 anxiety disorder ISO RGD:1314284 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Anxiety PMID:17937428|PMID:18403758|PMID:18467358|PMID:19808356|PMID:21835286|PMID:23054336|PMID:24510615|PMID:25031304|PMID:25335496|PMID:25741868|PMID:26914223|PMID:27532257|PMID:28492532|PMID:29121657|PMID:29212898|PMID:31447099|PMID:36162733|PMID:7493025 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 20260616 ClinVar ClinVar Annotator: match by term: Long QT syndrome 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:22958901|PMID:23140321|PMID:23299917|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24119082|PMID:24503780|PMID:24510615|PMID:24721642|PMID:25342278|PMID:25524337|PMID:25611685|PMID:25741868|PMID:27532257|PMID:28138913|PMID:28166811|PMID:28254189|PMID:28492532|PMID:28771489|PMID:30025578|PMID:30297972|PMID:31110529|PMID:32163302|PMID:32396390|PMID:32746448|PMID:33495596|PMID:33673806|PMID:33996946|PMID:34076677|PMID:34714385|PMID:35626289|PMID:35653365|PMID:37652022|PMID:37937776|PMID:38002985|PMID:39160446|PMID:39486665 8714363 Mybpc3 myosin binding protein C3 gene DOID:3082 interstitial lung disease ISO RGD:1314284 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Interstitial pneumonitis PMID:11499718|PMID:15519027|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:22857948|PMID:23396983|PMID:23861362|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:29300372|PMID:29447731|PMID:29907873|PMID:30696458|PMID:30871747|PMID:32746448|PMID:32841044|PMID:33407484|PMID:33782553|PMID:34400558|PMID:35535697|PMID:35626289|PMID:36252119|PMID:36357371|PMID:38104429|PMID:38254962|PMID:38999502|PMID:39125703|PMID:39160446|PMID:39554508|PMID:9562578 8714363 Mybpc3 myosin binding protein C3 gene DOID:3459 breast carcinoma ISO RGD:1314284 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Breast carcinoma PMID:16181148|PMID:16199547|PMID:17263690|PMID:19149795|PMID:19574547|PMID:20975235|PMID:25525159|PMID:25741868|PMID:28420666|PMID:28492532|PMID:30105547 8714363 Mybpc3 myosin binding protein C3 gene DOID:3650 lactic acidosis ISO RGD:1314284 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lactic acidosis PMID:12788380|PMID:19574547|PMID:25741868|PMID:27532257|PMID:28492532|PMID:30731207 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:384 Wolff-Parkinson-White syndrome ISO RGD:1314284 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:25741868|PMID:28492532|PMID:32233023 8714363 Mybpc3 myosin binding protein C3 gene DOID:5041 esophageal cancer ISO RGD:1314284 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus PMID:21239446|PMID:24033266|PMID:25740977|PMID:25741868|PMID:26467025|PMID:28492532 8714363 Mybpc3 myosin binding protein C3 gene DOID:6000 congestive heart failure ISO RGD:1314284 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Heart failure PMID:11499719|PMID:16858239|PMID:19574547|PMID:20031618|PMID:20173211|PMID:20359594|PMID:21302287|PMID:21835320|PMID:23674513|PMID:24033266|PMID:25524337|PMID:25611685|PMID:25740977|PMID:25741868|PMID:26656175|PMID:26688388|PMID:27483260|PMID:27532257|PMID:27600940|PMID:28408708|PMID:28492532|PMID:28615295|PMID:28790153|PMID:29121657|PMID:29710196|PMID:29875424|PMID:30297972|PMID:30550750|PMID:32228044|PMID:32481709|PMID:32841044|PMID:33782553|PMID:34556856|PMID:36166435|PMID:37652022 8714363 Mybpc3 myosin binding protein C3 gene DOID:6419 tetralogy of Fallot ISO RGD:1314284 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Tetralogy of Fallot PMID:19150014|PMID:22765922|PMID:25741868|PMID:27930701|PMID:28356264|PMID:28492532|PMID:32917565|PMID:33919104|PMID:35629155|PMID:35885957 8714363 Mybpc3 myosin binding protein C3 gene DOID:700 mitochondrial metabolism disease ISO RGD:1314284 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:12788380|PMID:19574547|PMID:25741868|PMID:27532257|PMID:28492532|PMID:30731207 8714363 Mybpc3 myosin binding protein C3 gene DOID:784 chronic kidney disease ISO RGD:1314284 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:11499718|PMID:15519027|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:22857948|PMID:23396983|PMID:23861362|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:29300372|PMID:29447731|PMID:29907873|PMID:30696458|PMID:30871747|PMID:32746448|PMID:32841044|PMID:33407484|PMID:33782553|PMID:34400558|PMID:35535697|PMID:35626289|PMID:36252119|PMID:36357371|PMID:38104429|PMID:38254962|PMID:38999502|PMID:39125703|PMID:39160446|PMID:39554508|PMID:9562578 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:9000006 Supraventricular Tachycardia ISO RGD:1314284 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Supraventricular tachycardia PMID:25741868|PMID:28492532 8714363 Mybpc3 myosin binding protein C3 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1314284 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:11499718|PMID:12202917|PMID:15519027|PMID:20474083|PMID:20864638|PMID:22958901|PMID:23549607|PMID:24510615|PMID:24793961|PMID:25031304|PMID:25714468|PMID:25741868|PMID:27532257|PMID:28492532|PMID:29875314|PMID:32841044|PMID:33495597|PMID:33782553|PMID:37652022|PMID:7493025 8714363 Mybpc3 myosin binding protein C3 gene DOID:9000123 Deglutition Disorders ISO RGD:1314284 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Dysphagia PMID:22958901|PMID:24510615|PMID:25637381|PMID:25741868|PMID:27332903|PMID:28492532|PMID:28790153|PMID:29247119|PMID:34935411|PMID:36252119|PMID:37652022 8714363 Mybpc3 myosin binding protein C3 gene DOID:9000299 cardiac amyloidosis ISO RGD:1314284 D RGD:8554872 20260616 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 20260519 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:12818575|PMID:18258667|PMID:19574547|PMID:20624503|PMID:20800588|PMID:21959974|PMID:22958901|PMID:23299917|PMID:24093860|PMID:24111713|PMID:24510615|PMID:25132132|PMID:25637381|PMID:25741868|PMID:26633542|PMID:27532257|PMID:27600940|PMID:27885498|PMID:28408708|PMID:28416588|PMID:28492532|PMID:29875424|PMID:30611859|PMID:30775854|PMID:32841044|PMID:33495596|PMID:33495597|PMID:34426522|PMID:34540771|PMID:35653365|PMID:37652022 8714363 Mybpc3 myosin binding protein C3 gene DOID:9000590 Dyspnea ISO RGD:1314284 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Dyspnea PMID:22958901|PMID:23861362|PMID:24033266|PMID:25741868|PMID:27532257|PMID:28492532|PMID:31983221|PMID:32746448|PMID:32841044|PMID:33495597|PMID:33782553 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:9000727 Syncope ISO RGD:1314284 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Syncope PMID:17394878|PMID:19574547|PMID:20624503|PMID:20800588|PMID:21896538|PMID:22958901|PMID:23861362|PMID:24033266|PMID:24111713|PMID:25741868|PMID:27532257|PMID:28138913|PMID:28492532|PMID:28640247|PMID:28971120|PMID:31983221|PMID:32746448|PMID:32841044|PMID:33495597|PMID:33782553|PMID:35653365|PMID:37652022 8714363 Mybpc3 myosin binding protein C3 gene DOID:9000808 Hypercholesterolemia ISO RGD:1314284 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia PMID:16199547|PMID:17937428|PMID:18403758|PMID:18467358|PMID:19574547|PMID:19808356|PMID:20215591|PMID:21835286|PMID:23054336|PMID:24033266|PMID:24111713|PMID:24510615|PMID:25031304|PMID:25132132|PMID:25335496|PMID:25525159|PMID:25611685|PMID:25741868|PMID:26914223|PMID:27532257|PMID:28193612|PMID:28492532|PMID:29121657|PMID:29212898|PMID:31447099|PMID:36162733|PMID:7493025 8714363 Mybpc3 myosin binding protein C3 gene DOID:9001512 Familial Amyloid Polyneuropathies ISO RGD:1314284 D RGD:8554872 20260616 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:9001733 Tinnitus ISO RGD:1314284 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Tinnitus PMID:11499718|PMID:12202917|PMID:15519027|PMID:20474083|PMID:20864638|PMID:23549607|PMID:24510615|PMID:25031304|PMID:25714468|PMID:25741868|PMID:27532257|PMID:28492532|PMID:29875314|PMID:33495597|PMID:7493025 8714363 Mybpc3 myosin binding protein C3 gene DOID:9003139 Cardiac Fibrosis ISO RGD:1314284 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Myocardial fibrosis PMID:16199547|PMID:19574547|PMID:20215591|PMID:24033266|PMID:24111713|PMID:25132132|PMID:25525159|PMID:25611685|PMID:25741868|PMID:27532257|PMID:28193612|PMID:28492532 8714363 Mybpc3 myosin binding protein C3 gene DOID:9003674 Chest Pain ISO RGD:1314284 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Chest pain PMID:17576681|PMID:25351510|PMID:25741868|PMID:28492532|PMID:34461741|PMID:39472908|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 20260616 ClinVar ClinVar Annotator: match by term: Left ventricular hypertrophy PMID:15519027|PMID:16754800|PMID:17394878|PMID:18533079|PMID:18761664|PMID:19574547|PMID:19996403|PMID:20051424|PMID:20215591|PMID:20624503|PMID:20641121|PMID:20800588|PMID:21297165|PMID:21415409|PMID:21551322|PMID:21896538|PMID:22173300|PMID:22337857|PMID:23299917|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24503780|PMID:24774605|PMID:24774606|PMID:24795128|PMID:25335496|PMID:25351510|PMID:25524337|PMID:25637381|PMID:25741868|PMID:26223264|PMID:26467025|PMID:27066506|PMID:27435932|PMID:27532257|PMID:27576561|PMID:28138913|PMID:28254189|PMID:28356264|PMID:28492532|PMID:28518168|PMID:28640247|PMID:28790153|PMID:28971120|PMID:29686099|PMID:30025578|PMID:30297972|PMID:30665703|PMID:31006259|PMID:31110529|PMID:31771441|PMID:32163302|PMID:32396390|PMID:32841044|PMID:33495596|PMID:33673806|PMID:33996946|PMID:34076677|PMID:34714385|PMID:35626289|PMID:35653365|PMID:37652022|PMID:38002985|PMID:39160446|PMID:39486665 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 20260616 ClinVar ClinVar Annotator: match by term: Sudden infant death syndrome PMID:11499718|PMID:11499719|PMID:12707239|PMID:15519027|PMID:17823372|PMID:21959974|PMID:22267749|PMID:24033266|PMID:24510615|PMID:24793961|PMID:2552433|PMID:25741868|PMID:26914223|PMID:27532257|PMID:28492532|PMID:29121657|PMID:29758562|PMID:30165862|PMID:31028938|PMID:31737537|PMID:35027292|PMID:35581137|PMID:37652022|PMID:38094187|PMID:7493026|PMID:9048664|PMID:9562578 8714363 Mybpc3 myosin binding protein C3 gene DOID:9007033 Ventricular Premature Complexes ISO RGD:1314284 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Premature ventricular contraction PMID:11499718|PMID:11815426|PMID:12110947|PMID:12707239|PMID:12818575|PMID:12974739|PMID:15519027|PMID:16199542|PMID:16858239|PMID:20045868|PMID:20435227|PMID:23861362|PMID:24033266|PMID:25741868|PMID:27600940|PMID:28492532 8714363 Mybpc3 myosin binding protein C3 gene DOID:9007288 Left Ventricular Noncompaction 1 ISO RGD:1314284 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: LEFT VENTRICULAR NONCOMPACTION 1 WITH OR WITHOUT CONGENITAL HEART DEFECTS PMID:11499718|PMID:12202917|PMID:15114369|PMID:15519027|PMID:18533079|PMID:18957093|PMID:19574547|PMID:20474083|PMID:20864638|PMID:22857948|PMID:23549607|PMID:24033266|PMID:24510615|PMID:24793961|PMID:25031304|PMID:25714468|PMID:25741868|PMID:27532257|PMID:28492532|PMID:29875314|PMID:33495596|PMID:33495597|PMID:33673806|PMID:35411935|PMID:35581268|PMID:7493025 8714363 Mybpc3 myosin binding protein C3 gene DOID:9007614 Paroxysmal Atrial Fibrillation ISO RGD:1314284 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Paroxysmal atrial fibrillation PMID:22958901|PMID:24033266|PMID:25741868|PMID:27532257|PMID:28492532|PMID:29540472|PMID:30571196|PMID:32880476|PMID:33782553|PMID:37652022 8714363 Mybpc3 myosin binding protein C3 gene DOID:9007820 Sudden Death ISO RGD:1314284 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sudden death | ClinVar Annotator: match by term: Sudden unexplained death PMID:15519027|PMID:16754800|PMID:18761664|PMID:20051424|PMID:20215591|PMID:21297165|PMID:21415409|PMID:21551322|PMID:22173300|PMID:22337857|PMID:22958901|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24503780|PMID:24774605|PMID:24774606|PMID:24793961|PMID:24795128|PMID:25335496|PMID:25351510|PMID:25637381|PMID:25741868|PMID:26223264|PMID:26467025|PMID:27066506|PMID:27435932|PMID:27532257|PMID:27576561|PMID:28356264|PMID:28492532|PMID:28518168|PMID:28640247|PMID:28790153|PMID:29686099|PMID:31006259|PMID:31771441|PMID:32841044|PMID:33495597|PMID:33782553|PMID:37652022 8714363 Mybpc3 myosin binding protein C3 gene DOID:9007923 Back Pain ISO RGD:1314284 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Back pain PMID:17576681|PMID:25351510|PMID:25741868|PMID:28492532|PMID:34461741|PMID:39472908|PMID:9536098 8714363 Mybpc3 myosin binding protein C3 gene DOID:9007925 Sudden Cardiac Death ISO RGD:1314284 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sudden cardiac death 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:9008385 Vomiting ISO RGD:1314284 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Vomiting PMID:15519027|PMID:19574547|PMID:21959974|PMID:25741868|PMID:28492532|PMID:28640247|PMID:30550750 8714363 Mybpc3 myosin binding protein C3 gene DOID:9008421 Epistaxis ISO RGD:1314284 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Epistaxis PMID:11499718|PMID:12202917|PMID:15519027|PMID:20474083|PMID:20864638|PMID:23549607|PMID:24510615|PMID:25031304|PMID:25714468|PMID:25741868|PMID:27532257|PMID:28492532|PMID:29875314|PMID:33495597|PMID:7493025 8714363 Mybpc3 myosin binding protein C3 gene DOID:9477 pulmonary embolism ISO RGD:1314284 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Pulmonary embolism 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:9834 hyperopia ISO RGD:1314284 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hypermetropia PMID:10736283|PMID:11499718|PMID:11499719|PMID:11847170|PMID:14563344|PMID:15519027|PMID:16679492|PMID:19273718|PMID:19356534|PMID:19574547|PMID:20505798|PMID:22057632|PMID:22115648|PMID:22569109|PMID:22574137|PMID:23674513|PMID:24111713|PMID:25262865|PMID:25335496|PMID:25611685|PMID:25741868|PMID:26489474|PMID:26914223|PMID:27108529|PMID:27476098|PMID:27532257|PMID:28492532|PMID:28790153|PMID:28794111|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29300372|PMID:29447731|PMID:29759671|PMID:30025578|PMID:30550750|PMID:30731207|PMID:30742251|PMID:30775854|PMID:30847666|PMID:31006259|PMID:31513939|PMID:31737537|PMID:32009526|PMID:32686758|PMID:32841044|PMID:32880476|PMID:33673806|PMID:35653365|PMID:37844837|PMID:38489124|PMID:9562578 8714363 Mybpc3 myosin binding protein C3 gene DOID:9970 obesity ISO RGD:1314284 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Obesity PMID:10736283|PMID:11499718|PMID:11499719|PMID:11847170|PMID:14563344|PMID:15519027|PMID:16679492|PMID:19273718|PMID:19356534|PMID:19574547|PMID:20505798|PMID:22057632|PMID:22115648|PMID:22569109|PMID:22574137|PMID:23674513|PMID:24111713|PMID:25262865|PMID:25335496|PMID:25611685|PMID:25741868|PMID:26489474|PMID:26914223|PMID:27108529|PMID:27476098|PMID:27532257|PMID:28492532|PMID:28790153|PMID:28794111|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29300372|PMID:29447731|PMID:29759671|PMID:30025578|PMID:30550750|PMID:30731207|PMID:30742251|PMID:30775854|PMID:30847666|PMID:31006259|PMID:31513939|PMID:31737537|PMID:32009526|PMID:32686758|PMID:32841044|PMID:32880476|PMID:33673806|PMID:35653365|PMID:37844837|PMID:38489124|PMID:9562578 8714420 Sypl2 synaptophysin like 2 gene DOID:10534 stomach cancer ISO RGD:1603517 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8714420 Sypl2 synaptophysin like 2 gene DOID:1115 sarcoma ISO RGD:1603517 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8714420 Sypl2 synaptophysin like 2 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1603517 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8714452 Faap100 FA core complex associated protein 100 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1604593 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8714452 Faap100 FA core complex associated protein 100 gene DOID:1115 sarcoma ISO RGD:1604593 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8714452 Faap100 FA core complex associated protein 100 gene DOID:1909 melanoma ISO RGD:1604593 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8714452 Faap100 FA core complex associated protein 100 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1604593 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8714452 Faap100 FA core complex associated protein 100 gene DOID:6039 uveal melanoma ISO RGD:1604593 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uveal melanoma 8714452 Faap100 FA core complex associated protein 100 gene DOID:6171 uterine carcinosarcoma ISO RGD:1604593 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8714452 Faap100 FA core complex associated protein 100 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1604593 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8714452 Faap100 FA core complex associated protein 100 gene DOID:9119 acute myeloid leukemia ISO RGD:1604593 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8714476 Slc6a6 solute carrier family 6 member 6 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:69004 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8714476 Slc6a6 solute carrier family 6 member 6 gene DOID:0050700 cardiomyopathy ISO RGD:69004 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:31903486 8714476 Slc6a6 solute carrier family 6 member 6 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:69004 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8714476 Slc6a6 solute carrier family 6 member 6 gene DOID:10534 stomach cancer ISO RGD:69004 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 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:1115 sarcoma ISO RGD:69004 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 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:1909 melanoma ISO RGD:69004 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8714476 Slc6a6 solute carrier family 6 member 6 gene DOID:3275 thymoma ISO RGD:69004 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8714476 Slc6a6 solute carrier family 6 member 6 gene DOID:4074 pancreatic adenocarcinoma ISO RGD:69004 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma 8714476 Slc6a6 solute carrier family 6 member 6 gene DOID:4362 cervical cancer ISO RGD:69004 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 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:5746 ovarian serous cystadenocarcinoma ISO RGD:69004 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8714476 Slc6a6 solute carrier family 6 member 6 gene DOID:6171 uterine carcinosarcoma ISO RGD:69004 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 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 20260616 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:31903486 8714476 Slc6a6 solute carrier family 6 member 6 gene DOID:9004147 Anosmia ISO RGD:69004 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Hyposmia PMID:25741868|PMID:31903486 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 20260519 ClinVar ClinVar Annotator: match by term: Hypertaurinuric cardiomyopathy PMID:25741868|PMID:31903486 8714476 Slc6a6 solute carrier family 6 member 6 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:69004 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 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 8714476 Slc6a6 solute carrier family 6 member 6 gene DOID:9119 acute myeloid leukemia ISO RGD:69004 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8714476 Slc6a6 solute carrier family 6 member 6 gene DOID:9649 congenital nystagmus ISO RGD:69004 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Congenital nystagmus PMID:25741868|PMID:31903486 8714476 Slc6a6 solute carrier family 6 member 6 gene DOID:9970 obesity ISO RGD:69004 D RGD:8554872 20260616 ClinVar ClinVar Annotator: match by term: Obesity PMID:25741868|PMID:31903486 8714507 Ing3 inhibitor of growth family member 3 gene DOID:3275 thymoma ISO RGD:1321527 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8714507 Ing3 inhibitor of growth family member 3 gene DOID:4947 cholangiocarcinoma ISO RGD:1321527 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 8714507 Ing3 inhibitor of growth family member 3 gene DOID:5041 esophageal cancer ISO RGD:1321527 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8714507 Ing3 inhibitor of growth family member 3 gene DOID:6171 uterine carcinosarcoma ISO RGD:1321527 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8714507 Ing3 inhibitor of growth family member 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1321527 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 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 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:5041 esophageal cancer ISO RGD:1342542 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8714546 Cst7 cystatin F gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1342542 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8714546 Cst7 cystatin F gene DOID:9000217 Stomach Neoplasms ISO RGD:1342542 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 8714546 Cst7 cystatin F gene DOID:9008952 Breast Cancer, Familial ISO RGD:1342542 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 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 20260602 ClinVar ClinVar Annotator: match by term: COQ5-related condition | ClinVar Annotator: match by term: Coenzyme q10 deficiency, primary, 9 PMID:21937992|PMID:25741868|PMID:28492532 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 8714554 Coq5 coenzyme Q5, methyltransferase gene DOID:1115 sarcoma ISO RGD:1604266 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8714554 Coq5 coenzyme Q5, methyltransferase gene DOID:1909 melanoma ISO RGD:1604266 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8714554 Coq5 coenzyme Q5, methyltransferase gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1604266 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8714554 Coq5 coenzyme Q5, methyltransferase gene DOID:6171 uterine carcinosarcoma ISO RGD:1604266 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8714568 Stap2 signal transducing adaptor family member 2 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1601996 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8714568 Stap2 signal transducing adaptor family member 2 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1601996 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8714568 Stap2 signal transducing adaptor family member 2 gene DOID:10534 stomach cancer ISO RGD:1601996 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8714568 Stap2 signal transducing adaptor family member 2 gene DOID:11054 urinary bladder cancer ISO RGD:1601996 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8714568 Stap2 signal transducing adaptor family member 2 gene DOID:1115 sarcoma ISO RGD:1601996 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8714568 Stap2 signal transducing adaptor family member 2 gene DOID:1324 lung cancer ISO RGD:1601996 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8714568 Stap2 signal transducing adaptor family member 2 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1601996 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 8714568 Stap2 signal transducing adaptor family member 2 gene DOID:4947 cholangiocarcinoma ISO RGD:1601996 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 8714568 Stap2 signal transducing adaptor family member 2 gene DOID:5041 esophageal cancer ISO RGD:1601996 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8714568 Stap2 signal transducing adaptor family member 2 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1601996 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8714568 Stap2 signal transducing adaptor family member 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1601996 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8714568 Stap2 signal transducing adaptor family member 2 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1601996 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8714568 Stap2 signal transducing adaptor family member 2 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1601996 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8714588 Timm21 translocase of inner mitochondrial membrane 21 gene DOID:1909 melanoma ISO RGD:1351951 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8714588 Timm21 translocase of inner mitochondrial membrane 21 gene DOID:234 colon adenocarcinoma ISO RGD:1351951 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8714588 Timm21 translocase of inner mitochondrial membrane 21 gene DOID:684 hepatocellular carcinoma ISO RGD:1351951 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8714588 Timm21 translocase of inner mitochondrial membrane 21 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1351951 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8714588 Timm21 translocase of inner mitochondrial membrane 21 gene DOID:9119 acute myeloid leukemia ISO RGD:1351951 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8714607 Dennd1c DENN domain containing 1C gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1345609 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8714607 Dennd1c DENN domain containing 1C gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1345609 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8714607 Dennd1c DENN domain containing 1C gene DOID:10534 stomach cancer ISO RGD:1345609 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8714607 Dennd1c DENN domain containing 1C gene DOID:1115 sarcoma ISO RGD:1345609 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8714607 Dennd1c DENN domain containing 1C gene DOID:1324 lung cancer ISO RGD:1345609 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8714607 Dennd1c DENN domain containing 1C gene DOID:1909 melanoma ISO RGD:1345609 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8714607 Dennd1c DENN domain containing 1C gene DOID:3275 thymoma ISO RGD:1345609 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8714607 Dennd1c DENN domain containing 1C gene DOID:4362 cervical cancer ISO RGD:1345609 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8714607 Dennd1c DENN domain containing 1C gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1345609 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8714607 Dennd1c DENN domain containing 1C gene DOID:6171 uterine carcinosarcoma ISO RGD:1345609 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8714607 Dennd1c DENN domain containing 1C gene DOID:684 hepatocellular carcinoma ISO RGD:1345609 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8714607 Dennd1c DENN domain containing 1C gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1345609 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8714643 Znf394 zinc finger protein 394 gene DOID:11054 urinary bladder cancer ISO RGD:1354133 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8714643 Znf394 zinc finger protein 394 gene DOID:5041 esophageal cancer ISO RGD:1354133 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 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 20260602 ClinVar ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 42 | ClinVar Annotator: match by term: Spermatogenic failure 42 PMID:25741868 8714690 Ttc29 tetratricopeptide repeat domain 29 gene DOID:1324 lung cancer ISO RGD:1605320 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8714690 Ttc29 tetratricopeptide repeat domain 29 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1605320 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 8714690 Ttc29 tetratricopeptide repeat domain 29 gene DOID:4947 cholangiocarcinoma ISO RGD:1605320 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 8714690 Ttc29 tetratricopeptide repeat domain 29 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1605320 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8714706 Map4k1 mitogen-activated protein kinase kinase kinase kinase 1 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1313504 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8714706 Map4k1 mitogen-activated protein kinase kinase kinase kinase 1 gene DOID:1115 sarcoma ISO RGD:1313504 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8714706 Map4k1 mitogen-activated protein kinase kinase kinase kinase 1 gene DOID:1324 lung cancer ISO RGD:1313504 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 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 8714706 Map4k1 mitogen-activated protein kinase kinase kinase kinase 1 gene DOID:234 colon adenocarcinoma ISO RGD:1313504 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8714706 Map4k1 mitogen-activated protein kinase kinase kinase kinase 1 gene DOID:5041 esophageal cancer ISO RGD:1313504 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8714706 Map4k1 mitogen-activated protein kinase kinase kinase kinase 1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1313504 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8714706 Map4k1 mitogen-activated protein kinase kinase kinase kinase 1 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1313504 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8714706 Map4k1 mitogen-activated protein kinase kinase kinase kinase 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1313504 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8714706 Map4k1 mitogen-activated protein kinase kinase kinase kinase 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1313504 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 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 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 20260602 ClinVar ClinVar Annotator: match by term: GGN-related condition | ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 69 PMID:25741868|PMID:28492532 8714770 Ggn gametogenetin gene DOID:11054 urinary bladder cancer ISO RGD:1315571 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8714770 Ggn gametogenetin gene DOID:5041 esophageal cancer ISO RGD:1315571 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8714770 Ggn gametogenetin gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1315571 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8714779 Ccdc116 coiled-coil domain containing 116 gene DOID:10534 stomach cancer ISO RGD:1602289 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 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 8714779 Ccdc116 coiled-coil domain containing 116 gene DOID:234 colon adenocarcinoma ISO RGD:1602289 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8714804 Mob3a MOB kinase activator 3A gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1317819 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8714804 Mob3a MOB kinase activator 3A gene DOID:11054 urinary bladder cancer ISO RGD:1317819 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8714804 Mob3a MOB kinase activator 3A gene DOID:1324 lung cancer ISO RGD:1317819 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8714804 Mob3a MOB kinase activator 3A gene DOID:3275 thymoma ISO RGD:1317819 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8714804 Mob3a MOB kinase activator 3A gene DOID:5041 esophageal cancer ISO RGD:1317819 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8714804 Mob3a MOB kinase activator 3A gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1317819 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 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:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1317819 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8714804 Mob3a MOB kinase activator 3A gene DOID:9008952 Breast Cancer, Familial ISO RGD:1317819 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8714822 Pxmp2 peroxisomal membrane protein 2 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1347054 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8714822 Pxmp2 peroxisomal membrane protein 2 gene DOID:11054 urinary bladder cancer ISO RGD:1347054 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8714822 Pxmp2 peroxisomal membrane protein 2 gene DOID:1324 lung cancer ISO RGD:1347054 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8714822 Pxmp2 peroxisomal membrane protein 2 gene DOID:234 colon adenocarcinoma ISO RGD:1347054 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8714822 Pxmp2 peroxisomal membrane protein 2 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1347054 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8714822 Pxmp2 peroxisomal membrane protein 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1347054 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8714822 Pxmp2 peroxisomal membrane protein 2 gene DOID:9256 colorectal cancer ISO RGD:1347054 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colorectal cancer 8714840 Timm50 translocase of inner mitochondrial membrane 50 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1606193 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8714840 Timm50 translocase of inner mitochondrial membrane 50 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1606193 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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 20260519 ClinVar ClinVar Annotator: match by term: 3-METHYLGLUTACONIC ACIDURIA, TYPE IX | 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:31058414|PMID:32369862 8714840 Timm50 translocase of inner mitochondrial membrane 50 gene DOID:1909 melanoma ISO RGD:1606193 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8714840 Timm50 translocase of inner mitochondrial membrane 50 gene DOID:234 colon adenocarcinoma ISO RGD:1606193 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8714840 Timm50 translocase of inner mitochondrial membrane 50 gene DOID:3275 thymoma ISO RGD:1606193 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma PMID:28492532 8714840 Timm50 translocase of inner mitochondrial membrane 50 gene DOID:4362 cervical cancer ISO RGD:1606193 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer PMID:28492532 8714840 Timm50 translocase of inner mitochondrial membrane 50 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1606193 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma PMID:17576681|PMID:28492532|PMID:9536098 8714840 Timm50 translocase of inner mitochondrial membrane 50 gene DOID:630 genetic disease ISO RGD:1606193 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:30765764 8714840 Timm50 translocase of inner mitochondrial membrane 50 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1606193 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8714840 Timm50 translocase of inner mitochondrial membrane 50 gene DOID:9007385 Mitochondrial Encephalopathy ISO RGD:1606193 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: Mitochondrial encephalopathy PMID:25741868 8714840 Timm50 translocase of inner mitochondrial membrane 50 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1606193 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8714855 Stx7 syntaxin 7 gene DOID:0050453 lissencephaly ISO RGD:737314 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Pachygyria PMID:26395554 8714855 Stx7 syntaxin 7 gene DOID:0050562 West syndrome ISO RGD:737314 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Infantile spasms PMID:26395554 8714855 Stx7 syntaxin 7 gene DOID:1059 intellectual disability ISO RGD:737314 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:26395554 8714855 Stx7 syntaxin 7 gene DOID:10907 microcephaly ISO RGD:737314 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:26395554 8714855 Stx7 syntaxin 7 gene DOID:1115 sarcoma ISO RGD:737314 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8714855 Stx7 syntaxin 7 gene DOID:1324 lung cancer ISO RGD:737314 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8714855 Stx7 syntaxin 7 gene DOID:1826 epilepsy ISO RGD:737314 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Seizure PMID:26395554 8714855 Stx7 syntaxin 7 gene DOID:3275 thymoma ISO RGD:737314 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8714855 Stx7 syntaxin 7 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:737314 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 8714855 Stx7 syntaxin 7 gene DOID:5041 esophageal cancer ISO RGD:737314 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8714855 Stx7 syntaxin 7 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:737314 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8714855 Stx7 syntaxin 7 gene DOID:6171 uterine carcinosarcoma ISO RGD:737314 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8714855 Stx7 syntaxin 7 gene DOID:684 hepatocellular carcinoma ISO RGD:737314 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8714855 Stx7 syntaxin 7 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:737314 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8714855 Stx7 syntaxin 7 gene DOID:9119 acute myeloid leukemia ISO RGD:737314 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8714882 Pdcd6ip programmed cell death 6 interacting protein gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:68505 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8714882 Pdcd6ip programmed cell death 6 interacting protein gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:68505 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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:10534 stomach cancer ISO RGD:68505 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8714882 Pdcd6ip programmed cell death 6 interacting protein gene DOID:11054 urinary bladder cancer ISO RGD:68505 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8714882 Pdcd6ip programmed cell death 6 interacting protein gene DOID:1115 sarcoma ISO RGD:68505 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8714882 Pdcd6ip programmed cell death 6 interacting protein gene DOID:1324 lung cancer ISO RGD:68505 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8714882 Pdcd6ip programmed cell death 6 interacting protein gene DOID:1909 melanoma ISO RGD:68505 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8714882 Pdcd6ip programmed cell death 6 interacting protein gene DOID:234 colon adenocarcinoma ISO RGD:68505 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8714882 Pdcd6ip programmed cell death 6 interacting protein gene DOID:4467 clear cell renal cell carcinoma ISO RGD:68505 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 8714882 Pdcd6ip programmed cell death 6 interacting protein gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:68505 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8714882 Pdcd6ip programmed cell death 6 interacting protein gene DOID:6171 uterine carcinosarcoma ISO RGD:68505 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma 8714882 Pdcd6ip programmed cell death 6 interacting protein gene DOID:684 hepatocellular carcinoma ISO RGD:68505 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 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 8714882 Pdcd6ip programmed cell death 6 interacting protein gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:68505 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8714882 Pdcd6ip programmed cell death 6 interacting protein gene DOID:9008952 Breast Cancer, Familial ISO RGD:68505 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8714882 Pdcd6ip programmed cell death 6 interacting protein gene DOID:9119 acute myeloid leukemia ISO RGD:68505 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8714882 Pdcd6ip programmed cell death 6 interacting protein gene DOID:9256 colorectal cancer ISO RGD:68505 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colorectal cancer 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 20260519 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532|PMID:34935411 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 20260519 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:16199547|PMID:17576681|PMID:24033266|PMID:25163546|PMID:25741868|PMID:26656175|PMID:28166811|PMID:28492532|PMID:29511324|PMID:31983221|PMID:32746448|PMID:33874732|PMID:33996946|PMID:9536098 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: 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:12930 dilated cardiomyopathy ISO RGD:1351346 D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | 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:34935411|PMID:9536098 8714909 Pdlim3 PDZ and LIM domain 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1351346 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532|PMID:31983221 8714909 Pdlim3 PDZ and LIM domain 3 gene DOID:1909 melanoma ISO RGD:1351346 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8714909 Pdlim3 PDZ and LIM domain 3 gene DOID:397 restrictive cardiomyopathy ISO RGD:1351346 D RGD:8554872 20250729 ClinVar ClinVar Annotator: match by term: Restrictive cardiomyopathy PMID:25741868 8714909 Pdlim3 PDZ and LIM domain 3 gene DOID:9000808 Hypercholesterolemia ISO RGD:1351346 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia PMID:24033266|PMID:28492532 8714948 Npr3 natriuretic peptide receptor 3 gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:731641 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 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:5041 esophageal cancer ISO RGD:731641 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8714948 Npr3 natriuretic peptide receptor 3 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:731641 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 8714948 Npr3 natriuretic peptide receptor 3 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:731641 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8714948 Npr3 natriuretic peptide receptor 3 gene DOID:630 genetic disease ISO RGD:731641 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 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 20260602 ClinVar ClinVar Annotator: match by term: BOUDIN-MORTIER SYNDROME | ClinVar Annotator: match by term: Boudin-Mortier syndrome | ClinVar Annotator: match by term: NPR3-related condition PMID:25741868|PMID:28492532|PMID:30032985|PMID:35233476|PMID:40171685 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:9004083 Familial Pancreatic Carcinoma ISO RGD:731641 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial pancreatic carcinoma 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:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:731641 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 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 8714948 Npr3 natriuretic peptide receptor 3 gene DOID:9256 colorectal cancer ISO RGD:731641 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colorectal cancer 8714964 Dgka diacylglycerol kinase alpha gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:732760 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8714964 Dgka diacylglycerol kinase alpha gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:732760 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8714964 Dgka diacylglycerol kinase alpha gene DOID:0060058 lymphoma ISO RGD:732760 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lymphoma 8714964 Dgka diacylglycerol kinase alpha gene DOID:10534 stomach cancer ISO RGD:732760 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8714964 Dgka diacylglycerol kinase alpha gene DOID:11054 urinary bladder cancer ISO RGD:732760 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8714964 Dgka diacylglycerol kinase alpha gene DOID:1115 sarcoma ISO RGD:732760 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8714964 Dgka diacylglycerol kinase alpha gene DOID:1470 major depressive disorder ISO RGD:732760 D RGD:9068941 20260305 RGD mRNA:decreased expression:blood PMID:25226551|REF_RGD_ID:634888054 8714964 Dgka diacylglycerol kinase alpha gene DOID:234 colon adenocarcinoma ISO RGD:732760 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8714964 Dgka diacylglycerol kinase alpha gene DOID:3275 thymoma ISO RGD:732760 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8714964 Dgka diacylglycerol kinase alpha gene DOID:4074 pancreatic adenocarcinoma ISO RGD:732760 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma 8714964 Dgka diacylglycerol kinase alpha gene DOID:5041 esophageal cancer ISO RGD:732760 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8714964 Dgka diacylglycerol kinase alpha gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:732760 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 8714964 Dgka diacylglycerol kinase alpha gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:732760 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8714964 Dgka diacylglycerol kinase alpha gene DOID:684 hepatocellular carcinoma ISO RGD:732760 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8714964 Dgka diacylglycerol kinase alpha gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:732760 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8714964 Dgka diacylglycerol kinase alpha gene DOID:9119 acute myeloid leukemia ISO RGD:732760 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8714999 Dtna dystrobrevin alpha gene DOID:0050700 cardiomyopathy ISO RGD:1343196 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:28492532 8714999 Dtna dystrobrevin alpha gene DOID:0050939 uterine corpus endometrial carcinoma ISO RGD:1343196 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma 8714999 Dtna dystrobrevin alpha gene DOID:0061184 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:0061184 myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2 ISO RGD:1343196 D RGD:8554872 20260602 ClinVar ClinVar Annotator: match by term: DTNA-related disorder | ClinVar Annotator: match by term: MYOPATHY WITH MYALGIA, INCREASED SERUM CREATINE KINASE, AND WITH OR WITHOUT EPISODIC RHABDOMYOLYSIS 2 PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532|PMID:34935411 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:10534 stomach cancer ISO RGD:1343196 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:28492532 8714999 Dtna dystrobrevin alpha gene DOID:1115 sarcoma ISO RGD:1343196 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8714999 Dtna dystrobrevin alpha gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1343196 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 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:1324 lung cancer ISO RGD:1343196 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8714999 Dtna dystrobrevin alpha gene DOID:1682 congenital heart disease ISO RGD:1343196 D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: congenital heart disease PMID:25741868|PMID:28492532 8714999 Dtna dystrobrevin alpha gene DOID:4362 cervical cancer ISO RGD:1343196 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8714999 Dtna dystrobrevin alpha gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1343196 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 8714999 Dtna dystrobrevin alpha gene DOID:4947 cholangiocarcinoma ISO RGD:1343196 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 8714999 Dtna dystrobrevin alpha gene DOID:5041 esophageal cancer ISO RGD:1343196 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus PMID:28492532 8714999 Dtna dystrobrevin alpha gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1343196 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8714999 Dtna dystrobrevin alpha gene DOID:684 hepatocellular carcinoma ISO RGD:1343196 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 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:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1343196 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 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 20260602 ClinVar ClinVar Annotator: match by term: LEFT VENTRICULAR NONCOMPACTION 1 | ClinVar Annotator: match by term: LEFT VENTRICULAR NONCOMPACTION 1 WITH OR WITHOUT CONGENITAL HEART DEFECTS | ClinVar Annotator: match by term: Left ventricular noncompaction 1 PMID:11238270|PMID:16199547|PMID:17576681|PMID:23861362|PMID:24014171|PMID:24033266|PMID:25305078|PMID:25741868|PMID:28492532|PMID:29247119|PMID:32746448|PMID:33500567|PMID:33789662|PMID:34935411|PMID:35087879|PMID:35148685|PMID:36178741|PMID:9536098 8714999 Dtna dystrobrevin alpha gene DOID:9009406 Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis ISO RGD:1343196 D RGD:8554872 20251209 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:9119 acute myeloid leukemia ISO RGD:1343196 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8714999 Dtna dystrobrevin alpha gene DOID:9651 systolic heart failure ISO RGD:1343196 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Heart failure, systolic PMID:24033266|PMID:25741868|PMID:28492532 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 8715082 Znf282 zinc finger protein 282 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1314806 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8715082 Znf282 zinc finger protein 282 gene DOID:11054 urinary bladder cancer ISO RGD:1314806 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8715082 Znf282 zinc finger protein 282 gene DOID:1115 sarcoma ISO RGD:1314806 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Sarcoma 8715082 Znf282 zinc finger protein 282 gene DOID:1909 melanoma ISO RGD:1314806 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8715082 Znf282 zinc finger protein 282 gene DOID:234 colon adenocarcinoma ISO RGD:1314806 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8715082 Znf282 zinc finger protein 282 gene DOID:3275 thymoma ISO RGD:1314806 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8715082 Znf282 zinc finger protein 282 gene DOID:4362 cervical cancer ISO RGD:1314806 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8715082 Znf282 zinc finger protein 282 gene DOID:5041 esophageal cancer ISO RGD:1314806 D RGD:8554872 20260609 ClinVar ClinVar Annotator: match by term: Malignant tumor of esophagus 8715082 Znf282 zinc finger protein 282 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1314806 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8715082 Znf282 zinc finger protein 282 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1314806 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8715082 Znf282 zinc finger protein 282 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1314806 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8715103 Oxnad1 oxidoreductase NAD binding domain containing 1 gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1603935 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8715103 Oxnad1 oxidoreductase NAD binding domain containing 1 gene DOID:10534 stomach cancer ISO RGD:1603935 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Gastric cancer 8715103 Oxnad1 oxidoreductase NAD binding domain containing 1 gene DOID:1324 lung cancer ISO RGD:1603935 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8715103 Oxnad1 oxidoreductase NAD binding domain containing 1 gene DOID:234 colon adenocarcinoma ISO RGD:1603935 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma 8715103 Oxnad1 oxidoreductase NAD binding domain containing 1 gene DOID:3275 thymoma ISO RGD:1603935 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thymoma 8715103 Oxnad1 oxidoreductase NAD binding domain containing 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1603935 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8715103 Oxnad1 oxidoreductase NAD binding domain containing 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1603935 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8715118 Abi1 abl interactor 1 gene DOID:11054 urinary bladder cancer ISO RGD:1604650 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8715118 Abi1 abl interactor 1 gene DOID:1324 lung cancer ISO RGD:1604650 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8715118 Abi1 abl interactor 1 gene DOID:1909 melanoma ISO RGD:1604650 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Melanoma 8715118 Abi1 abl interactor 1 gene DOID:4362 cervical cancer ISO RGD:1604650 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Cervical cancer 8715118 Abi1 abl interactor 1 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1604650 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8715118 Abi1 abl interactor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1604650 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8715118 Abi1 abl interactor 1 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1604650 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 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 8715118 Abi1 abl interactor 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1604650 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8715118 Abi1 abl interactor 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1604650 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 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:1324 lung cancer ISO RGD:1323267 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Lung cancer 8715172 Rhobtb3 Rho related BTB domain containing 3 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1323267 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney 8715172 Rhobtb3 Rho related BTB domain containing 3 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1323267 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma 8715172 Rhobtb3 Rho related BTB domain containing 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1323267 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8715172 Rhobtb3 Rho related BTB domain containing 3 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1323267 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 8715172 Rhobtb3 Rho related BTB domain containing 3 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1323267 D RGD:8554872 20260519 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8715189 Pde6c phosphodiesterase 6C gene DOID:0050795 cone dystrophy