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GENE - TERM ANNOTATION REPORT

CRRD ID: 12594048
Species: Ictidomys tridecemlineatus
CRRD Object: Gene
Symbol: Dsg2
Name: desmoglein 2
Acc ID: DOID:0060675
Term: catecholaminergic polymorphic ventricular tachycardia 1
Definition: A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the RYR2 gene on chromosome 1q43. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/12093772, https://www.ncbi.nlm.nih.gov/pubmed/17875969
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 ISSRGD:13224469068941ClinVarClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 1

PMID:17105751, PMID:18678517, PMID:19039334, PMID:20031616, PMID:20031617, PMID:20716751, PMID:20864495, PMID:21606390, PMID:23810883, PMID:23861362, PMID:24033266, PMID:24055113, PMID:25741868, 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.