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GENE - TERM ANNOTATION REPORT

CRRD ID: 18649440
Species: Chlorocebus sabaeus
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, url:http://en.wikipedia.org/wiki/Arrhythmogenic_right_ventricular_dysplasia "DO", url:http://ghr.nlm.nih.gov/condition/arrhythmogenic-right-ventricular-cardiomyopathy "DO", url:http://my.clevelandclinic.org/services/heart/disorders/arvd "DO", url:http://www.hopkinsmedicine.org/heart_vascular_institute/clinical_services/centers_excellence/arvd/patient_resources/questions.html "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:100417219068941ClinVarClinVar Annotator: match by term: Cardiomyopathy, ARVC

PMID:25741868, PMID:28492532
DSG2 ISORGD:100549019068941ClinVarClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy

PMID:16505173, PMID:23071725, PMID:24033266, PMID:24070718, PMID:25741868, PMID:28492532
DSG2 ISORGD:100549189068941ClinVarClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy

PMID:25741868, PMID:28492532
DSG2 ISORGD:104498079068941ClinVarClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy

PMID:21606396, PMID:24704780, PMID:25741868, PMID:28492532
DSG2 ISORGD:110402889068941ClinVarClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy

PMID:20400443, PMID:21606390
DSG2 ISORGD:110403099068941ClinVarClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy

PMID:28492532
DSG2 ISORGD:110404009068941ClinVarClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy

 
DSG2 ISORGD:115257339068941ClinVarClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy

 
DSG2 ISORGD:116138939068941ClinVarClinVar Annotator: match by term: Cardiomyopathy, ARVC

PMID:25741868, PMID:28492532
DSG2 ISORGD:116150319068941ClinVarClinVar Annotator: match by term: Cardiomyopathy, ARVC

PMID:28492532
DSG2 ISORGD:116152709068941ClinVarClinVar Annotator: match by term: Cardiomyopathy, ARVC

 
DSG2 ISORGD:116263529068941ClinVarClinVar Annotator: match by term: Cardiomyopathy, ARVC

 
DSG2 ISORGD:116265199068941ClinVarClinVar Annotator: match by term: Cardiomyopathy, ARVC

PMID:28492532
DSG2 ISORGD:116275139068941ClinVarClinVar Annotator: match by term: Cardiomyopathy, ARVC

 
DSG2 ISORGD:116280249068941ClinVarClinVar Annotator: match by term: Cardiomyopathy, ARVC

 
DSG2 ISORGD:116288759068941ClinVarClinVar Annotator: match by term: Cardiomyopathy, ARVC

 
DSG2 ISORGD:116300819068941ClinVarClinVar Annotator: match by term: Cardiomyopathy, ARVC

 
DSG2 ISORGD:116301269068941ClinVarClinVar Annotator: match by term: Cardiomyopathy, ARVC

 
DSG2 ISORGD:116311569068941ClinVarClinVar Annotator: match by term: Cardiomyopathy, ARVC

 
DSG2 ISORGD:116476519068941ClinVarClinVar Annotator: match by term: Cardiomyopathy, ARVC

 
DSG2 ISORGD:116487389068941ClinVarClinVar Annotator: match by term: Cardiomyopathy, ARVC

 
DSG2 ISORGD:116490229068941ClinVarClinVar Annotator: match by term: Cardiomyopathy, ARVC

 
DSG2 ISORGD:116494719068941ClinVarClinVar Annotator: match by term: Cardiomyopathy, ARVC

 
DSG2 ISORGD:116506709068941ClinVarClinVar Annotator: match by term: Cardiomyopathy, ARVC

 
DSG2 ISORGD:116516819068941ClinVarClinVar Annotator: match by term: Cardiomyopathy, ARVC

 
DSG2 ISORGD:116520259068941ClinVarClinVar Annotator: match by term: Cardiomyopathy, ARVC

 
DSG2 ISORGD:116526039068941ClinVarClinVar Annotator: match by term: Cardiomyopathy, ARVC

 
DSG2 ISORGD:116533919068941ClinVarClinVar Annotator: match by term: Cardiomyopathy, ARVC

 
DSG2 ISORGD:116549909068941ClinVarClinVar Annotator: match by term: Cardiomyopathy, ARVC

 
DSG2 ISORGD:116555079068941ClinVarClinVar Annotator: match by term: Cardiomyopathy, ARVC

 
DSG2 ISORGD:116563379068941ClinVarClinVar Annotator: match by term: Cardiomyopathy, ARVC

 
DSG2 ISORGD:116563489068941ClinVarClinVar Annotator: match by term: Cardiomyopathy, ARVC

 
DSG2 ISORGD:116576239068941ClinVarClinVar Annotator: match by term: Cardiomyopathy, ARVC

 
DSG2 ISORGD:116579399068941ClinVarClinVar Annotator: match by term: Cardiomyopathy, ARVC

 
DSG2 ISORGD:134652189068941ClinVarClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy

PMID:21606396, PMID:22000064, PMID:25741868, PMID:27532257, PMID:28492532
DSG2 ISORGD:135177679068941ClinVarClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia

PMID:25637381
DSG2 ISORGD:149753959068941ClinVarClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy

PMID:25741868
DSG2 ISORGD:149754729068941ClinVarClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy

PMID:25741868
DSG2 ISORGD:150149069068941ClinVarClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy

PMID:25741868
DSG2 ISORGD:150150869068941ClinVarClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy

PMID:25741868, PMID:31333075, PMID:31568572
DSG2 ISORGD:85658399068941ClinVarClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy

PMID:16773573, PMID:19151369, PMID:19863551, PMID:20031617, PMID:20152563, PMID:20400443, PMID:20857253, PMID:23671136, PMID:24033266, PMID:25741868, PMID:25820315, PMID:28283360
DSG2 ISORGD:85658419068941ClinVarClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy

PMID:16773573, PMID:20031616, PMID:20031617, PMID:20400443, PMID:20857253, PMID:21606390, PMID:21606396, PMID:23071725, PMID:23381804, PMID:24033266
DSG2 ISORGD:85658439068941ClinVarClinVar Annotator: match by term: Cardiomyopathy, ARVC

PMID:16773573, PMID:18382419, PMID:20031617, PMID:20708101, PMID:23299917, PMID:24055113, PMID:25213555, PMID:25637381, PMID:28492532
DSG2 ISORGD:85658459068941ClinVarClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy

PMID:16505173, PMID:25741868
DSG2 ISORGD:85658469068941ClinVarClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy

PMID:16505173, PMID:23381804, PMID:23911551, PMID:24033266, PMID:28492532
DSG2 ISORGD:85658479068941ClinVarClinVar Annotator: match by term: Cardiomyopathy, ARVC

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
DSG2 ISORGD:85693799068941ClinVarClinVar Annotator: match by term: Cardiomyopathy, ARVC

PMID:17105751, PMID:20031616, PMID:20129281, PMID:20829228, PMID:21606390, PMID:21606396, PMID:21636032, PMID:21723241, PMID:21859740, PMID:23071725, PMID:23812740, PMID:23861362, PMID:24033266, PMID:24070718, PMID:24436435, PMID:25637381, PMID:25741868, PMID:26138720, PMID:26899768, PMID:28492532, PMID:29062102
DSG2 ISORGD:85693809068941ClinVarClinVar Annotator: match by term: Cardiomyopathy, ARVC

PMID:23861362, PMID:24033266, PMID:25741868, PMID:28492532
DSG2 ISORGD:86070969068941ClinVarClinVar Annotator: match by term: Cardiomyopathy, ARVC

PMID:20031617, PMID:20152563, PMID:20864495, PMID:21606390, PMID:21606396, PMID:21636032, PMID:21859740, PMID:23299917, PMID:23381804, PMID:23810894, PMID:23861362, PMID:23871674, PMID:23871885, PMID:23889974, PMID:24033266, PMID:24503780, PMID:24704780, PMID:25445213, PMID:25741868, PMID:26230511, PMID:27194543, PMID:27930701, PMID:28255936, PMID:28341588, PMID:28492532, PMID:28818065, PMID:30790397
DSG2 ISORGD:86070999068941ClinVarClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy

PMID:18632414, PMID:23514727, PMID:24033266, PMID:24238504, PMID:25741868, PMID:25765472, PMID:28492532, PMID:28578331, PMID:30454721
DSG2 ISORGD:86071099068941ClinVarClinVar 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:20829228, PMID:23861362, PMID:24033266, PMID:25741868
DSG2 ISORGD:86071209068941ClinVarClinVar Annotator: match by term: Cardiomyopathy, ARVC

PMID:16025435, PMID:17105751, PMID:18382419, PMID:18678517, PMID:19039334, PMID:19863551, PMID:20864495, PMID:23299917, PMID:23861362, PMID:24033266, PMID:24503780, PMID:25087486, PMID:25172079, PMID:25741868, PMID:28492532
DSG2 ISORGD:86071299068941ClinVarClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy

PMID:25741868, PMID:28492532
DSG2 ISORGD:86071329068941ClinVarClinVar Annotator: match by term: Cardiomyopathy, ARVC

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
DSG2 ISORGD:86071349068941ClinVarClinVar Annotator: match by term: Cardiomyopathy, ARVC

PMID:20400443, PMID:20857253, PMID:23671136, PMID:23810894, PMID:23889974, PMID:24033266, PMID:25525159, PMID:25820315, PMID:28492532
DSG2 ISORGD:86071459068941ClinVarClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy

PMID:24033266
DSG2 ISORGD:95868279068941ClinVarClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy

PMID:28492532
DSG2 ISORGD:95868289068941ClinVarClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy

 
DSG2 ISORGD:96877409068941ClinVarClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia

PMID:21606390, PMID:23299917, PMID:23861362, PMID:24033266, PMID:25741868, PMID:28492532
DSG2 ISORGD:96884149068941ClinVarClinVar Annotator: match by term: Cardiomyopathy, ARVC

PMID:20197793, PMID:23299917, PMID:24033266, PMID:24070718, PMID:25637381, PMID:25741868, PMID:27930701, PMID:28492532
DSG2 ISORGD:96915639068941ClinVarClinVar Annotator: match by term: Cardiomyopathy, ARVC

PMID:24033266, PMID:25637381, PMID:25741868, PMID:28492532
DSG2 ISORGD:96915699068941ClinVarClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy

PMID:24033266, PMID:28492532
DSG2 ISORGD:96936019068941ClinVarClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy

PMID:17372169, PMID:23861362, PMID:24033266, PMID:25741868, PMID:28492532
DSG2 ISORGD:98323259068941ClinVarClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy

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.