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GENE - TERM ANNOTATION REPORT

RGD ID: 11928866
Species: Pan paniscus
RGD Object: Gene
Symbol: KCNH2
Name: potassium voltage-gated channel subfamily H member 2
Acc ID: DOID:12930
Term: dilated cardiomyopathy
Definition: An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Dilated_cardiomyopathy "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)
KCNH2 ISOKCNH2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Primary dilated cardiomyopathyPMID:15176425 PMID:16244680 PMID:22402334 PMID:22581653 PMID:25741868 PMID:28492532
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