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CRRD ID: 18649440
Species: Chlorocebus sabaeus
CRRD Object: Gene
Symbol: DSG2
Name: desmoglein 2
Acc ID: DOID:0110070
Term: arrhythmogenic right ventricular dysplasia 1
Definition: An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the TGFB3 gene on chromosome 14q24. (DO)
Definition Source(s): url: "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)
DSG2 ISORGD:86071329068941ClinVarClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1

PMID:17105751, PMID:18382419, PMID:18678517, PMID:19039334, PMID:19569224, PMID:20031616, PMID:20603720, PMID:20857253, PMID:21397041, PMID:21606390, PMID:21606396, PMID:23299917, PMID:23671136, PMID:23861362, PMID:24033266, PMID:24055113, PMID:24082139, PMID:24704780, PMID:25332820, PMID:25445213, PMID:25637381, PMID:25741868, PMID:26230511, 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.