Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs794728137
rs794728137
DSP
CUI: C1854063
Disease: Cardiomyopathy dilated with Woolly hair and keratoderma
Cardiomyopathy dilated with Woolly hair and keratoderma 		AG 0.700 CausalMutation CLINVAR Desmoplakin missense and non-missense mutations in arrhythmogenic right ventricular cardiomyopathy: Genotype-phenotype correlation. 28527814

2017
dbSNP: rs794728137
rs794728137
DSP
CUI: C1854063
Disease: Cardiomyopathy dilated with Woolly hair and keratoderma
Cardiomyopathy dilated with Woolly hair and keratoderma 		AG 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
dbSNP: rs794728137
rs794728137
DSP
CUI: C1854063
Disease: Cardiomyopathy dilated with Woolly hair and keratoderma
Cardiomyopathy dilated with Woolly hair and keratoderma 		AG 0.700 GeneticVariation CLINVAR