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: rs113726158
rs113726158
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C1843896
Disease:
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 		G 0.700 GeneticVariation CLINVAR Desmoplakin mutations with palmoplantar keratoderma, woolly hair and cardiomyopathy. 25227139 2015
dbSNP: rs113726158
rs113726158
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C1843896
Disease:
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 		G 0.700 GeneticVariation CLINVAR The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. 24503780 2014
dbSNP: rs113726158
rs113726158
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C1843896
Disease:
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 		G 0.700 GeneticVariation CLINVAR Prevalence of desmosomal protein gene mutations in patients with dilated cardiomyopathy. 20716751 2010