rs794728137, DSP

N. diseases: 6
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 GeneticVariation CLINVAR
Cardiomyopathy dilated with Woolly hair and keratoderma
CUI: C1854063
Disease: Cardiomyopathy dilated with Woolly hair and keratoderma
0.700 CausalMutation CLINVAR Desmoplakin missense and non-missense mutations in arrhythmogenic right ventricular cardiomyopathy: Genotype-phenotype correlation. 28527814 2017
Cardiomyopathy dilated with Woolly hair and keratoderma
CUI: C1854063
Disease: Cardiomyopathy dilated with Woolly hair and keratoderma
0.700 CausalMutation CLINVAR Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death. 26187847 2015