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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:0050431
Term: arrhythmogenic right ventricular cardiomyopathy
Definition: A congenital cardiomyopathy that is characterized by infiltration of adipose and fibrous tissue into the RIGHT VENTRICLE wall and loss of myocardial cells. Primary injuries usually are at the free wall of right ventricular and right atria resulting in ventricular and supraventricular arrhythmias.
Definition Source(s): MESH:D019571, http://en.wikipedia.org/wiki/Arrhythmogenic_right_ventricular_dysplasia, http://ghr.nlm.nih.gov/condition/arrhythmogenic-right-ventricular-cardiomyopathy, http://my.clevelandclinic.org/services/heart/disorders/arvd, http://www.hopkinsmedicine.org/heart_vascular_institute/clinical_services/centers_excellence/arvd/patient_resources/questions.html
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: Arrhythmogenic right ventricular cardiomyopathy

PMID:16505173, PMID:16773573, PMID:17372169, PMID:18632414, PMID:19151369, PMID:19863551, PMID:20031616, PMID:20031617, PMID:20152563, PMID:20400443, PMID:20857253, PMID:21606390, PMID:21606396, PMID:22000064, PMID:23071725, PMID:23381804, PMID:23514727, PMID:23671136, PMID:23861362, PMID:23911551, PMID:24033266, PMID:24070718, PMID:24238504, PMID:24704780, PMID:25741868, PMID:25765472, PMID:25820315, PMID:27532257, PMID:28283360, PMID:28492532, PMID:28578331, PMID:30454721, PMID:31333075, PMID:31568572
Dsg2 ISSRGD:13224469068941ClinVarClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia

PMID:16025435, PMID:16774985, PMID:18382419, PMID:18678517, PMID:18813333, PMID:19039334, PMID:19863551, PMID:20031616, PMID:20031617, PMID:20400443, PMID:20829228, PMID:21397041, PMID:21606390, PMID:23299917, PMID:23861362, PMID:24033266, PMID:24070718, PMID:25637381, PMID:25741868, PMID:28492532, PMID:28600387
Dsg2 ISSRGD:13224469068941ClinVarClinVar Annotator: match by term: Cardiomyopathy, ARVC

PMID:16025435, PMID:16773573, PMID:17105751, PMID:18382419, 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:23071725, PMID:23299917, PMID:23381804, 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:24436435, PMID:24503780, PMID:24704780, PMID:25087486, PMID:25172079, PMID:25213555, PMID:25332820, PMID:25445213, PMID:25525159, PMID:25637381, PMID:25741868, PMID:25820315, PMID:26138720, PMID:26230511, PMID:26899768, PMID:27194543, PMID:27930701, PMID:28255936, PMID:28341588, PMID:28492532, PMID:28818065, PMID:29062102, 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.