rs113726158, DSP

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
CUI: C1843896
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
0.700 GeneticVariation CLINVAR Desmoplakin mutations with palmoplantar keratoderma, woolly hair and cardiomyopathy. 25227139 2015
Cardiomyopathy dilated with Woolly hair and keratoderma
CUI: C1854063
Disease: Cardiomyopathy dilated with Woolly hair and keratoderma
0.700 GeneticVariation CLINVAR Desmoplakin mutations with palmoplantar keratoderma, woolly hair and cardiomyopathy. 25227139 2015
Cardiomyopathy dilated with Woolly hair and keratoderma
CUI: C1854063
Disease: Cardiomyopathy dilated with Woolly hair and keratoderma
0.700 GeneticVariation CLINVAR The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. 24503780 2014
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
CUI: C1843896
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
0.700 GeneticVariation CLINVAR The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. 24503780 2014
Cardiomyopathy dilated with Woolly hair and keratoderma
CUI: C1854063
Disease: Cardiomyopathy dilated with Woolly hair and keratoderma
0.700 GeneticVariation CLINVAR Prevalence of desmosomal protein gene mutations in patients with dilated cardiomyopathy. 20716751 2010
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
CUI: C1843896
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
0.700 GeneticVariation CLINVAR Prevalence of desmosomal protein gene mutations in patients with dilated cardiomyopathy. 20716751 2010