DSG2, desmoglein 2, 1829

N. diseases: 6; N. variants: 36
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
CUI: C2752072
Disease: Cardiomyopathy, Dilated, 1BB
Cardiomyopathy, Dilated, 1BB 		0.600 SusceptibilityMutation disease CLINVAR
CUI: C2752072
Disease: Cardiomyopathy, Dilated, 1BB
Cardiomyopathy, Dilated, 1BB 		0.600 GeneticVariation disease CLINVAR
CUI: C2752072
Disease: Cardiomyopathy, Dilated, 1BB
Cardiomyopathy, Dilated, 1BB 		0.600 CausalMutation disease CLINVAR
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.460 GeneticVariation group CLINVAR
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.200 GeneticVariation disease CLINVAR Phenotypic expression of ARVC: How 12 lead ECG can predict left or right ventricle involvement. A familiar case series and a review of literature. 28283360 2017
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.200 GeneticVariation disease CLINVAR Clinical Presentation, Long-Term Follow-Up, and Outcomes of 1001 Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Patients and Family Members. 25820315 2015
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.200 GeneticVariation disease CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.200 GeneticVariation disease CLINVAR Incremental value of cardiac magnetic resonance imaging in arrhythmic risk stratification of arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers. 23810894 2013
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.200 CausalMutation disease CLINVAR Mutated desmoglein-2 proteins are incorporated into desmosomes and exhibit dominant-negative effects in arrhythmogenic right ventricular cardiomyopathy. 23381804 2013
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.200 GeneticVariation disease CLINVAR Risk stratification in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers. 23671136 2013
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.200 CausalMutation disease CLINVAR In vitro functional analyses of arrhythmogenic right ventricular cardiomyopathy-associated desmoglein-2-missense variations. 23071725 2012
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.200 GeneticVariation disease CLINVAR Desmosomal protein gene mutations in patients with idiopathic dilated cardiomyopathy undergoing cardiac transplantation: a clinicopathological study. 21859740 2011
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.200 CausalMutation disease CLINVAR Familial evaluation in arrhythmogenic right ventricular cardiomyopathy: impact of genetics and revised task force criteria. 21606390 2011
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.200 GeneticVariation disease CLINVAR Familial evaluation in arrhythmogenic right ventricular cardiomyopathy: impact of genetics and revised task force criteria. 21606390 2011
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.200 CausalMutation disease CLINVAR Arrhythmogenic right ventricular dysplasia/cardiomyopathy: pathogenic desmosome mutations in index-patients predict outcome of family screening: Dutch arrhythmogenic right ventricular dysplasia/cardiomyopathy genotype-phenotype follow-up study. 21606396 2011
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.200 GeneticVariation disease CLINVAR Distinguishing arrhythmogenic right ventricular cardiomyopathy/dysplasia-associated mutations from background genetic noise. 21636032 2011