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GENE - TERM ANNOTATION REPORT

RGD ID: 11898467
Species: Pan paniscus
RGD Object: Gene
Symbol: SCN5A
Name: sodium voltage-gated channel alpha subunit 5
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)
SCN5A ISOSCN5A (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasiaPMID:10973849 PMID:11222472 PMID:12354768 PMID:12820704 PMID:14523039 PMID:15466642 PMID:15840476 PMID:15840483 PMID:15851227 PMID:16325048 PMID:16414944 PMID:16540748 PMID:17161064 PMID:17210839 PMID:18071069 PMID:18361072 PMID:18452873 PMID:19412328 PMID:19841300 PMID:20129283 PMID:20403459 PMID:20539757 PMID:20875080 PMID:22373669 PMID:22378279 PMID:22557970 PMID:22581653 PMID:23008441 PMID:23098067 PMID:23503384 PMID:23631430 PMID:23805106 PMID:23861362 PMID:24033266 PMID:24653702 PMID:25163546 PMID:25351510 PMID:25741868 PMID:25829473 PMID:25904541 PMID:25923670 PMID:26066609 PMID:26159999 PMID:26173111 PMID:26187847 PMID:26209461 PMID:26281194 PMID:26467025 PMID:26633542 PMID:26749013 PMID:27041150 PMID:27287068 PMID:28069705 PMID:28265756 PMID:28341781 PMID:28492532 PMID:28600387 PMID:28781330 PMID:29032884 PMID:29574140 PMID:30084490 PMID:31333075 PMID:31568572 PMID:31737537 PMID:32048431 PMID:32323320 PMID:32600061 PMID:33221895 PMID:33535892 PMID:34755423 PMID:35932045 PMID:36303204
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