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GENE - TERM ANNOTATION REPORT

RGD ID: 621414
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Kcnh2
Name: potassium voltage-gated channel subfamily H member 2
Acc ID: DOID:0050431
Term: arrhythmogenic right ventricular cardiomyopathy
Definition: An intrinsic cardiomyopathy that is characterized by hypokinetic areas involving the free wall of the right ventricle, with fibrofatty replacement of the right ventricular myocardium, with associated arrhythmias originating in the right ventricle and limited or no involvement of the left ventricle. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Arrhythmogenic_right_ventricular_dysplasia "DO" "DO", http://ghr.nlm.nih.gov/condition/arrhythmogenic-right-ventricular-cardiomyopathy "DO" "DO", http://my.clevelandclinic.org/services/heart/disorders/arvd "DO" "DO", http://www.hopkinsmedicine.org/heart_vascular_institute/clinical_services/centers_excellence/arvd/patient_resources/questions.html "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/31637441/ "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: Cardiomyopathy, ARVCPMID:15176425 PMID:16244680 PMID:22402334 PMID:22581653 PMID:25741868 PMID:28492532
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