rs1554108012, DSP

N. diseases: 4
Disease: Cardiomyopathy dilated with Woolly hair and keratoderma ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cardiomyopathy dilated with Woolly hair and keratoderma
CUI: C1854063
Disease: Cardiomyopathy dilated with Woolly hair and keratoderma
0.700 CausalMutation 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 CausalMutation CLINVAR Prevalence of desmosomal protein gene mutations in patients with dilated cardiomyopathy. 20716751 2010
Cardiomyopathy dilated with Woolly hair and keratoderma
CUI: C1854063
Disease: Cardiomyopathy dilated with Woolly hair and keratoderma
0.700 CausalMutation CLINVAR Novel mutation in desmoplakin causes arrhythmogenic left ventricular cardiomyopathy. 16061754 2005