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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:0110081
Term: arrhythmogenic right ventricular dysplasia 10
Definition: An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the desmoglein-2 gene (DSG2) on chromosome 18q12. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/16505173, https://www.ncbi.nlm.nih.gov/pubmed/17105751
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:13224467240710OMIM  
Dsg2 ISSRGD:13224469068941OMIM  
Dsg2 ISSRGD:13224469068941ClinVarClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 10

PMID:16505173, PMID:16773573, PMID:17105751, PMID:17372169, PMID:18632414, PMID:19151369, PMID:19279339, PMID:19863551, PMID:20031616, PMID:20031617, PMID:20152563, PMID:20400443, PMID:20829228, PMID:20857253, PMID:20864495, PMID:21397041, PMID:21606390, PMID:21606396, PMID:21636032, PMID:22000064, PMID:22036071, PMID:22214898, PMID:23071725, PMID:23381804, PMID:23514727, PMID:23671136, PMID:23861362, PMID:23889974, PMID:23911551, PMID:24033266, PMID:24070718, PMID:24125834, PMID:24238504, PMID:24585727, PMID:25174650, PMID:25637381, PMID:25741868, PMID:25765472, PMID:25820315, PMID:25877686, PMID:26656175, PMID:26822237, PMID:27055156, PMID:27532257, PMID:28283360, PMID:28416588, PMID:28472724, PMID:28492532, PMID:28578331, PMID:29178656, PMID:29247119, PMID:29773157, PMID:30454721, PMID:30790397
Dsg2 ISSRGD:13224469068941ClinVarClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10

PMID:16025435, PMID:16773573, PMID:17105751, PMID:18382419, PMID:18639457, PMID:18678517, PMID:19039334, PMID:19569224, PMID:19863551, PMID:20031616, PMID:20031617, PMID:20129281, PMID:20152563, PMID:20197793, PMID:20400443, PMID:20603720, PMID:20708101, PMID:20716751, PMID:20829228, PMID:20857253, PMID:20864495, PMID:21397041, PMID:21606390, PMID:21606396, PMID:21636032, PMID:21723241, PMID:21859740, PMID:22458570, PMID:23071725, PMID:23299917, PMID:23381804, PMID:23396983, PMID:23671136, PMID:23810883, PMID:23810894, PMID:23812740, PMID:23861362, PMID:23871674, PMID:23871885, PMID:23889974, PMID:24033266, PMID:24055113, PMID:24070718, PMID:24082139, PMID:24125834, PMID:24436435, PMID:24503780, PMID:24704780, PMID:25059832, PMID:25087486, PMID:25172079, PMID:25213555, PMID:25332820, PMID:25351510, PMID:25445213, PMID:25525159, PMID:25637381, PMID:25741868, PMID:25820315, PMID:26112015, PMID:26138720, PMID:26230511, PMID:26633542, PMID:26656175, PMID:26899768, PMID:27005929, PMID:27114410, PMID:27194543, PMID:27532257, PMID:27930701, PMID:28255936, PMID:28341588, PMID:28454995, PMID:28492532, PMID:28567303, PMID:28600387, PMID:28818065, PMID:29062102, PMID:30615648, PMID:30790397
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.