DSG2, desmoglein 2, 1829

N. diseases: 6; N. variants: 36
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 ×
Source: CLINVAR ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1857777
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 		0.700 GeneticVariation disease CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
CUI: C1857777
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 		0.700 GeneticVariation disease CLINVAR Mechanistic basis of desmosome-targeted diseases. 23911551 2013
CUI: C1857777
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 		0.700 GeneticVariation disease CLINVAR Mutated desmoglein-2 proteins are incorporated into desmosomes and exhibit dominant-negative effects in arrhythmogenic right ventricular cardiomyopathy. 23381804 2013
CUI: C1857777
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 		0.700 CausalMutation disease CLINVAR Mutated desmoglein-2 proteins are incorporated into desmosomes and exhibit dominant-negative effects in arrhythmogenic right ventricular cardiomyopathy. 23381804 2013
CUI: C1857777
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 		0.700 CausalMutation disease CLINVAR Mechanistic basis of desmosome-targeted diseases. 23911551 2013
CUI: C1857777
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 		0.700 CausalMutation disease CLINVAR Population-prevalent desmosomal mutations predisposing to arrhythmogenic right ventricular cardiomyopathy. 21397041 2011
CUI: C1857777
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 		0.700 CausalMutation disease CLINVAR Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice. 20400443 2010
CUI: C1857777
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 		0.700 CausalMutation disease CLINVAR Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy. 20864495 2010
CUI: C1857777
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 		0.700 CausalMutation disease CLINVAR Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy. 16505173 2006