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: rs141026028
rs141026028
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C1854063
Disease:
Cardiomyopathy dilated with Woolly hair and keratoderma 		T 0.700 GeneticVariation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
dbSNP: rs141026028
rs141026028
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C1854063
Disease:
Cardiomyopathy dilated with Woolly hair and keratoderma 		T 0.700 GeneticVariation CLINVAR Desmoplakin missense and non-missense mutations in arrhythmogenic right ventricular cardiomyopathy: Genotype-phenotype correlation. 28527814 2017
dbSNP: rs141026028
rs141026028
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C1854063
Disease:
Cardiomyopathy dilated with Woolly hair and keratoderma 		T 0.700 GeneticVariation CLINVAR Korean Monozygotic Twins with Lethal Acantholytic Epidermolysis Bullosa Caused by Two Novel DSP Mutations. 28442525 2017
dbSNP: rs141026028
rs141026028
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C1854063
Disease:
Cardiomyopathy dilated with Woolly hair and keratoderma 		T 0.700 GeneticVariation CLINVAR Risk stratification in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers. 23671136 2013
dbSNP: rs141026028
rs141026028
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C1854063
Disease:
Cardiomyopathy dilated with Woolly hair and keratoderma 		T 0.700 GeneticVariation CLINVAR Desmosomal protein gene mutations in patients with idiopathic dilated cardiomyopathy undergoing cardiac transplantation: a clinicopathological study. 21859740 2011