rs121913006, DSG2

N. diseases: 2
Disease: Arrhythmogenic Right Ventricular Dysplasia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Arrhythmogenic Right Ventricular Dysplasia
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
0.700 GeneticVariation 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
Arrhythmogenic Right Ventricular Dysplasia
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
0.700 GeneticVariation CLINVAR Clinical Presentation, Long-Term Follow-Up, and Outcomes of 1001 Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Patients and Family Members. 25820315 2015
Arrhythmogenic Right Ventricular Dysplasia
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
0.700 GeneticVariation CLINVAR Risk stratification in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers. 23671136 2013
Arrhythmogenic Right Ventricular Dysplasia
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
0.700 GeneticVariation CLINVAR Compound and digenic heterozygosity contributes to arrhythmogenic right ventricular cardiomyopathy. 20152563 2010
Arrhythmogenic Right Ventricular Dysplasia
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
0.700 GeneticVariation CLINVAR Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia. 19863551 2010
Arrhythmogenic Right Ventricular Dysplasia
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
0.700 GeneticVariation CLINVAR Shared desmosome gene findings in early and late onset arrhythmogenic right ventricular dysplasia/cardiomyopathy. 20857253 2010
Arrhythmogenic Right Ventricular Dysplasia
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
0.700 GeneticVariation CLINVAR Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice. 20400443 2010
Arrhythmogenic Right Ventricular Dysplasia
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
0.700 GeneticVariation CLINVAR Sporadic arrhythmogenic right ventricular cardiomyopathy/dysplasia due to a de novo mutation. 19151369 2009
Arrhythmogenic Right Ventricular Dysplasia
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
0.700 GeneticVariation CLINVAR Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy. 20031617 2009
Arrhythmogenic Right Ventricular Dysplasia
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
0.700 GeneticVariation CLINVAR DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy. 16773573 2006