DSP, desmoplakin, 1832

N. diseases: 191; N. variants: 152
Disease: Cardiomyopathy dilated with Woolly hair and keratoderma ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs746877365
rs746877365
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C1854063
Disease:
Cardiomyopathy dilated with Woolly hair and keratoderma 		T 0.700 CausalMutation CLINVAR Compound and digenic heterozygosity predicts lifetime arrhythmic outcome and sudden cardiac death in desmosomal gene-related arrhythmogenic right ventricular cardiomyopathy. 24070718 2013
dbSNP: rs746877365
rs746877365
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C1854063
Disease:
Cardiomyopathy dilated with Woolly hair and keratoderma 		T 0.700 CausalMutation CLINVAR Prevalence of desmosomal protein gene mutations in patients with dilated cardiomyopathy. 20716751 2010
dbSNP: rs746877365
rs746877365
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C1854063
Disease:
Cardiomyopathy dilated with Woolly hair and keratoderma 		T 0.700 CausalMutation CLINVAR A new diagnostic test for arrhythmogenic right ventricular cardiomyopathy. 19279339 2009
dbSNP: rs746877365
rs746877365
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C1854063
Disease:
Cardiomyopathy dilated with Woolly hair and keratoderma 		T 0.700 CausalMutation CLINVAR Left-dominant arrhythmogenic cardiomyopathy: an under-recognized clinical entity. 19095136 2008