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GENE - TERM ANNOTATION REPORT

CRRD ID: 18649440
Species: Chlorocebus sabaeus
CRRD Object: Gene
Symbol: DSG2
Name: desmoglein 2
Acc ID: DOID:0080326
Term: familial hypertrophic cardiomyopathy
Definition: An autosomal dominant inherited form of HYPERTROPHIC CARDIOMYOPATHY. It results from any of more than 50 mutations involving genes encoding contractile proteins such as VENTRICULAR MYOSINS; cardiac TROPONIN T; ALPHA-TROPOMYOSIN.
Definition Source(s): url:https://ghr.nlm.nih.gov/condition/familial-hypertrophic-cardiomyopathy#genes "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
DSG2 ISORGD:110400729068941ClinVarClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy

PMID:21606396
DSG2 ISORGD:110400799068941ClinVarClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy

 
DSG2 ISORGD:110400829068941ClinVarClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy

 
DSG2 ISORGD:85658479068941ClinVarClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy

PMID:17105751, PMID:18678517, PMID:19039334, PMID:20031616, PMID:20031617, PMID:20716751, PMID:20864495, PMID:21606390, PMID:23810883, PMID:23861362, PMID:24033266, PMID:24055113, PMID:25741868, PMID:28492532
DSG2 ISORGD:98323269068941ClinVarClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy

 
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.