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GENE - TERM ANNOTATION REPORT

RGD ID: 731917
Species: Homo sapiens
RGD Object: Gene
Symbol: KCNE2
Name: potassium voltage-gated channel subfamily E regulatory subunit 2
Acc ID: DOID:0080326
Term: familial hypertrophic cardiomyopathy
Definition: A hypertrophic cardiomyopathy that is characterized by thickening of the heart muscle and has_material_basis_in autosomal dominant inheritance of one or more gene mutations. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/familial-hypertrophic-cardiomyopathy#genes "DO" "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)
KCNE2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathyPMID:15368194 PMID:16487223 PMID:22581653 PMID:24681347 PMID:25741868 PMID:28492532
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