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: rs727504443
rs727504443
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C1854063
Disease:
Cardiomyopathy dilated with Woolly hair and keratoderma 		A 0.700 CausalMutation CLINVAR The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. 24503780 2014
dbSNP: rs727504443
rs727504443
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C1854063
Disease:
Cardiomyopathy dilated with Woolly hair and keratoderma 		A 0.700 CausalMutation CLINVAR Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy. 20864495 2010
dbSNP: rs727504443
rs727504443
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C1854063
Disease:
Cardiomyopathy dilated with Woolly hair and keratoderma 		A 0.700 CausalMutation CLINVAR Left-dominant arrhythmogenic cardiomyopathy: an under-recognized clinical entity. 19095136 2008
dbSNP: rs727504443
rs727504443
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C1854063
Disease:
Cardiomyopathy dilated with Woolly hair and keratoderma 		A 0.700 CausalMutation CLINVAR Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency. 10594734 1999