DSP, desmoplakin, 1832

N. diseases: 191; N. variants: 152
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs777407386
rs777407386
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C1843896
Disease:
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 		0.700 GeneticVariation UNIPROT Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy. 20031617 2009
dbSNP: rs777407386
rs777407386
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C1843896
Disease:
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 		0.700 GeneticVariation UNIPROT Clinical profile of four families with arrhythmogenic right ventricular cardiomyopathy caused by dominant desmoplakin mutations. 15941723 2005
dbSNP: rs777407386
rs777407386
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C1843896
Disease:
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 		0.700 GeneticVariation UNIPROT Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy. 12373648 2002