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GENE - TERM ANNOTATION REPORT

CRRD ID: 12011712
Species: Pan paniscus
CRRD Object: Gene
Symbol: ILK
Name: integrin linked kinase
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): https://ghr.nlm.nih.gov/condition/familial-hypertrophic-cardiomyopathy#genes
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.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 ISSRGD:7328559068941ClinVarClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy

 
 ISSRGD:7328559068941ClinVarClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy

PMID:24033266, PMID:25741868, PMID:28492532
 ISSRGD:7328559068941ClinVarClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy

PMID:24033266, PMID:28492532
 ISSRGD:7328559068941ClinVarClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy

PMID:28492532
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.