DSP, desmoplakin, 1832

N. diseases: 191; N. variants: 152
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs10484326
rs10484326
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0206062
Disease:
Lung Diseases, Interstitial 		0.700 GeneticVariation GWASDB Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis. 23583980 2013
dbSNP: rs1057517903
rs1057517903
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C1843896
Disease:
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 		C 0.700 GeneticVariation CLINVAR Desmoplakin mutations with palmoplantar keratoderma, woolly hair and cardiomyopathy. 25227139 2015
dbSNP: rs1057517903
rs1057517903
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C1854063
Disease:
Cardiomyopathy dilated with Woolly hair and keratoderma 		C 0.700 GeneticVariation CLINVAR Desmoplakin mutations with palmoplantar keratoderma, woolly hair and cardiomyopathy. 25227139 2015
dbSNP: rs1057517903
rs1057517903
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C1854063
Disease:
Cardiomyopathy dilated with Woolly hair and keratoderma 		C 0.700 GeneticVariation CLINVAR The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. 24503780 2014
dbSNP: rs1057517903
rs1057517903
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C1843896
Disease:
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 		C 0.700 GeneticVariation CLINVAR The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. 24503780 2014
dbSNP: rs1057517903
rs1057517903
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C1854063
Disease:
Cardiomyopathy dilated with Woolly hair and keratoderma 		C 0.700 GeneticVariation CLINVAR Prevalence of desmosomal protein gene mutations in patients with dilated cardiomyopathy. 20716751 2010
dbSNP: rs1057517903
rs1057517903
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C1843896
Disease:
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 		C 0.700 GeneticVariation CLINVAR Prevalence of desmosomal protein gene mutations in patients with dilated cardiomyopathy. 20716751 2010
dbSNP: rs1057517903
rs1057517903
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0349788
Disease:
Arrhythmogenic Right Ventricular Dysplasia 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1057518920
rs1057518920
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0265004
Disease:
Dilatation of aorta 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1057518920
rs1057518920
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0042510
Disease:
Ventricular Fibrillation 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1057518920
rs1057518920
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0855329
Disease:
Electrocardiogram change 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1057518920
rs1057518920
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0149630
Disease:
Bicuspid aortic valve 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1057518920
rs1057518920
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0085298
Disease:
Sudden Cardiac Death 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1060500607
rs1060500607
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C1843896
Disease:
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 		GT 0.700 CausalMutation CLINVAR
dbSNP: rs1060500609
rs1060500609
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C1843896
Disease:
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1060500610
rs1060500610
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C1843896
Disease:
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1060500613
rs1060500613
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C1843896
Disease:
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1060500618
rs1060500618
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C1843896
Disease:
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1135401735
rs1135401735
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C1879286
Disease:
Hereditary bundle branch system defect 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs113726158
rs113726158
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C1854063
Disease:
Cardiomyopathy dilated with Woolly hair and keratoderma 		G 0.700 GeneticVariation CLINVAR The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. 24503780 2014
dbSNP: rs113726158
rs113726158
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C1854063
Disease:
Cardiomyopathy dilated with Woolly hair and keratoderma 		G 0.700 GeneticVariation CLINVAR Prevalence of desmosomal protein gene mutations in patients with dilated cardiomyopathy. 20716751 2010
dbSNP: rs113726158
rs113726158
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C1843896
Disease:
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 		G 0.700 GeneticVariation CLINVAR Prevalence of desmosomal protein gene mutations in patients with dilated cardiomyopathy. 20716751 2010
dbSNP: rs113726158
rs113726158
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C1843896
Disease:
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 		G 0.700 GeneticVariation CLINVAR The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. 24503780 2014
dbSNP: rs113726158
rs113726158
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C1843896
Disease:
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 		G 0.700 GeneticVariation CLINVAR Desmoplakin mutations with palmoplantar keratoderma, woolly hair and cardiomyopathy. 25227139 2015
dbSNP: rs113726158
rs113726158
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C1854063
Disease:
Cardiomyopathy dilated with Woolly hair and keratoderma 		G 0.700 GeneticVariation CLINVAR Desmoplakin mutations with palmoplantar keratoderma, woolly hair and cardiomyopathy. 25227139 2015