Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1829
Gene Symbol: DSG2
DSG2
0.460 GeneticVariation group BEFREE In vitro analysis of arrhythmogenic cardiomyopathy associated desmoglein-2 (DSG2) mutations reveals diverse glycosylation patterns. 30885746 2019
Entrez Id: 1829
Gene Symbol: DSG2
DSG2
0.460 GeneticVariation group BEFREE The genes susceptible to arrhythmias and cardiomyopathies were analyzed and both the probands carried the same exonic mutation of DSG2 p.F531C (NM_001943, exon 11: c.T1592G). 30177324 2019
Entrez Id: 1829
Gene Symbol: DSG2
DSG2
0.460 GeneticVariation group BEFREE Mutations in the DSG2-gene are regarded to cause arrhythmogenic (right ventricular) cardiomyopathy (ARVC) which is a rare but severe heart muscle disease. 29062102 2017
Entrez Id: 1829
Gene Symbol: DSG2
DSG2
0.460 GeneticVariation group BEFREE Cardiac specific lack of desmoglein-2 leads to severe cardiomyopathy, whereas overexpression does not. 28339476 2017
Entrez Id: 1829
Gene Symbol: DSG2
DSG2
0.460 Biomarker group BEFREE To further elucidate pathomechanisms, we examined whether heart-specific Dsg2 depletion triggers cardiomyopathy. 26085008 2015
Entrez Id: 1829
Gene Symbol: DSG2
DSG2
0.460 GeneticVariation group LHGDN DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy. 16773573 2006
Entrez Id: 1829
Gene Symbol: DSG2
DSG2
0.460 Biomarker group GENOMICS_ENGLAND
Entrez Id: 1829
Gene Symbol: DSG2
DSG2
0.460 GeneticVariation group CLINVAR