DSP, desmoplakin, 1832

N. diseases: 191; N. variants: 152
Disease: Arrhythmogenic Right Ventricular Dysplasia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397516955
rs397516955
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0349788
Disease:
Arrhythmogenic Right Ventricular Dysplasia 		A 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
dbSNP: rs397516955
rs397516955
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0349788
Disease:
Arrhythmogenic Right Ventricular Dysplasia 		A 0.700 GeneticVariation CLINVAR The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. 24503780 2014
dbSNP: rs397516955
rs397516955
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0349788
Disease:
Arrhythmogenic Right Ventricular Dysplasia 		A 0.700 GeneticVariation CLINVAR Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathy. 16917092 2006