DSP, desmoplakin, 1832

N. diseases: 191; N. variants: 152
Disease: Arrhythmogenic Right Ventricular Dysplasia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs727503000
rs727503000
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0349788
Disease:
Arrhythmogenic Right Ventricular Dysplasia 		TA 0.700 CausalMutation CLINVAR Characterizing the Molecular Pathology of Arrhythmogenic Cardiomyopathy in Patient Buccal Mucosa Cells. 26850880 2016
dbSNP: rs397516955
rs397516955
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0349788
Disease:
Arrhythmogenic Right Ventricular Dysplasia 		A 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
dbSNP: rs876657638
rs876657638
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0349788
Disease:
Arrhythmogenic Right Ventricular Dysplasia 		T 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
dbSNP: rs397516955
rs397516955
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0349788
Disease:
Arrhythmogenic Right Ventricular Dysplasia 		A 0.700 GeneticVariation 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: C0349788
Disease:
Arrhythmogenic Right Ventricular Dysplasia 		A 0.700 GeneticVariation CLINVAR The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. 24503780 2014
dbSNP: rs397516943
rs397516943
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0349788
Disease:
Arrhythmogenic Right Ventricular Dysplasia 		T 0.700 GeneticVariation CLINVAR Incremental value of cardiac magnetic resonance imaging in arrhythmic risk stratification of arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers. 23810894 2013
dbSNP: rs869025392
rs869025392
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0349788
Disease:
Arrhythmogenic Right Ventricular Dysplasia 		A 0.700 GeneticVariation CLINVAR Compound and digenic heterozygosity predicts lifetime arrhythmic outcome and sudden cardiac death in desmosomal gene-related arrhythmogenic right ventricular cardiomyopathy. 24070718 2013
dbSNP: rs397516915
rs397516915
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0349788
Disease:
Arrhythmogenic Right Ventricular Dysplasia 		T 0.700 GeneticVariation CLINVAR Pediatric cardiomyopathy: importance of genetic and metabolic evaluation. 22555271 2012
dbSNP: rs727503000
rs727503000
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0349788
Disease:
Arrhythmogenic Right Ventricular Dysplasia 		TA 0.700 CausalMutation CLINVAR Desmosomal protein gene mutations in patients with idiopathic dilated cardiomyopathy undergoing cardiac transplantation: a clinicopathological study. 21859740 2011
dbSNP: rs727503003
rs727503003
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0349788
Disease:
Arrhythmogenic Right Ventricular Dysplasia 		CA 0.700 GeneticVariation CLINVAR Desmosomal protein gene mutations in patients with idiopathic dilated cardiomyopathy undergoing cardiac transplantation: a clinicopathological study. 21859740 2011
dbSNP: rs727503003
rs727503003
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0349788
Disease:
Arrhythmogenic Right Ventricular Dysplasia 		CA 0.700 GeneticVariation CLINVAR Familial evaluation in arrhythmogenic right ventricular cardiomyopathy: impact of genetics and revised task force criteria. 21606390 2011
dbSNP: rs869025392
rs869025392
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0349788
Disease:
Arrhythmogenic Right Ventricular Dysplasia 		A 0.700 GeneticVariation CLINVAR Clinical phenotype and diagnosis of arrhythmogenic right ventricular cardiomyopathy in pediatric patients carrying desmosomal gene mutations. 21723241 2011
dbSNP: rs876657638
rs876657638
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0349788
Disease:
Arrhythmogenic Right Ventricular Dysplasia 		T 0.700 GeneticVariation CLINVAR Familial evaluation in arrhythmogenic right ventricular cardiomyopathy: impact of genetics and revised task force criteria. 21606390 2011
dbSNP: rs727503000
rs727503000
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0349788
Disease:
Arrhythmogenic Right Ventricular Dysplasia 		TA 0.700 CausalMutation CLINVAR Prevalence of desmosomal protein gene mutations in patients with dilated cardiomyopathy. 20716751 2010
dbSNP: rs727503003
rs727503003
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0349788
Disease:
Arrhythmogenic Right Ventricular Dysplasia 		CA 0.700 GeneticVariation CLINVAR Prevalence of desmosomal protein gene mutations in patients with dilated cardiomyopathy. 20716751 2010
dbSNP: rs727504443
rs727504443
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0349788
Disease:
Arrhythmogenic Right Ventricular Dysplasia 		A 0.700 GeneticVariation CLINVAR Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy. 20864495 2010
dbSNP: rs397516929
rs397516929
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0349788
Disease:
Arrhythmogenic Right Ventricular Dysplasia 		C 0.700 GeneticVariation CLINVAR Morphologic variants of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy a genetics-magnetic resonance imaging correlation study. 19358943 2009
dbSNP: rs727504443
rs727504443
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0349788
Disease:
Arrhythmogenic Right Ventricular Dysplasia 		A 0.700 GeneticVariation CLINVAR A new diagnostic test for arrhythmogenic right ventricular cardiomyopathy. 19279339 2009
dbSNP: rs727504443
rs727504443
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0349788
Disease:
Arrhythmogenic Right Ventricular Dysplasia 		A 0.700 GeneticVariation CLINVAR Skin and heart: une liaison dangereuse. 19558499 2009
dbSNP: rs727504443
rs727504443
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0349788
Disease:
Arrhythmogenic Right Ventricular Dysplasia 		A 0.700 GeneticVariation CLINVAR Left-dominant arrhythmogenic cardiomyopathy: an under-recognized clinical entity. 19095136 2008
dbSNP: rs397516955
rs397516955
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0349788
Disease:
Arrhythmogenic Right Ventricular Dysplasia 		A 0.700 GeneticVariation CLINVAR Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathy. 16917092 2006
dbSNP: rs727504443
rs727504443
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0349788
Disease:
Arrhythmogenic Right Ventricular Dysplasia 		A 0.700 GeneticVariation CLINVAR Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency. 10594734 1999
dbSNP: rs1057517903
rs1057517903
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0349788
Disease:
Arrhythmogenic Right Ventricular Dysplasia 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1238227166
rs1238227166
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0349788
Disease:
Arrhythmogenic Right Ventricular Dysplasia 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs140474226
rs140474226
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0349788
Disease:
Arrhythmogenic Right Ventricular Dysplasia 		T 0.700 GeneticVariation CLINVAR