Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1832
Gene Symbol: DSP
DSP 		0.960 CausalMutation disease CLINVAR Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency. 10594734 1999
Entrez Id: 1832
Gene Symbol: DSP
DSP 		0.960 CausalMutation disease CLINVAR Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. 11063735 2000
Entrez Id: 1832
Gene Symbol: DSP
DSP 		0.960 GermlineCausalMutation disease ORPHANET Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. 11063735 2000
Entrez Id: 1832
Gene Symbol: DSP
DSP 		0.960 GeneticVariation disease BEFREE The desmoplakin mutation in Carvajal syndrome produces a cardiomyopathy with unique pathologic features. 14761782 2004
Entrez Id: 1832
Gene Symbol: DSP
DSP 		0.960 GeneticVariation disease BEFREE Mutations of DP may cause striate palmoplantar keratoderma, arrhythmogenic right ventricular dysplasia, skin fragility/woolly hair syndrome, Naxos-like disease, and Carvajal syndrome. 16175511 2005
Entrez Id: 1832
Gene Symbol: DSP
DSP 		0.960 CausalMutation disease CLINVAR Novel mutation in desmoplakin causes arrhythmogenic left ventricular cardiomyopathy. 16061754 2005
Entrez Id: 1832
Gene Symbol: DSP
DSP 		0.960 CausalMutation disease CLINVAR Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathy. 16917092 2006
Entrez Id: 1832
Gene Symbol: DSP
DSP 		0.960 GeneticVariation disease BEFREE Analysis of the reported desmoplakin mutations associated with Carvajal Syndrome, another ARVC disease, that it is also accompanied with a skin and hair disorder, also failed to reveal mutations in desmoplakin gene. 17045679 2007
Entrez Id: 1832
Gene Symbol: DSP
DSP 		0.960 CausalMutation disease CLINVAR Left-dominant arrhythmogenic cardiomyopathy: an under-recognized clinical entity. 19095136 2008
Entrez Id: 1832
Gene Symbol: DSP
DSP 		0.960 CausalMutation disease CLINVAR A new diagnostic test for arrhythmogenic right ventricular cardiomyopathy. 19279339 2009
Entrez Id: 1832
Gene Symbol: DSP
DSP 		0.960 GeneticVariation disease CLINVAR Prevalence of desmosomal protein gene mutations in patients with dilated cardiomyopathy. 20716751 2010
Entrez Id: 1832
Gene Symbol: DSP
DSP 		0.960 CausalMutation disease CLINVAR Prevalence of desmosomal protein gene mutations in patients with dilated cardiomyopathy. 20716751 2010
Entrez Id: 1832
Gene Symbol: DSP
DSP 		0.960 CausalMutation disease CLINVAR Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy. 20864495 2010
Entrez Id: 1832
Gene Symbol: DSP
DSP 		0.960 GeneticVariation disease BEFREE This novel homozygous truncating mutation in the isoform-1 specific region of the DSP C-terminus caused Carvajal syndrome comprising severe early-onset heart failure with features of non-compaction cardiomyopathy, woolly hair and an acantholytic form of palmoplantar keratoderma in our patient. 21789513 2011
Entrez Id: 1832
Gene Symbol: DSP
DSP 		0.960 Biomarker disease GENOMICS_ENGLAND A new hypo/oligodontia syndrome: Carvajal/Naxos syndrome secondary to desmoplakin-dominant mutations. 20940358 2011
Entrez Id: 1832
Gene Symbol: DSP
DSP 		0.960 Biomarker disease CTD_human Arrhythmogenic dilated cardiomyopathy due to a novel mutation in the desmoplakin gene. 21193976 2011
Entrez Id: 1832
Gene Symbol: DSP
DSP 		0.960 GeneticVariation disease CLINVAR Desmosomal protein gene mutations in patients with idiopathic dilated cardiomyopathy undergoing cardiac transplantation: a clinicopathological study. 21859740 2011
Entrez Id: 1832
Gene Symbol: DSP
DSP 		0.960 Biomarker disease BEFREE Mutations in the gene for desmoplakin (DSP) may cause arrhythmogenic right ventricular cardiomyopathy (ARVC) and Carvajal syndrome (CS). 23137101 2013
Entrez Id: 1832
Gene Symbol: DSP
DSP 		0.960 GeneticVariation disease CLINVAR Risk stratification in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers. 23671136 2013
Entrez Id: 1832
Gene Symbol: DSP
DSP 		0.960 CausalMutation disease CLINVAR Incremental value of cardiac magnetic resonance imaging in arrhythmic risk stratification of arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers. 23810894 2013
Entrez Id: 1832
Gene Symbol: DSP
DSP 		0.960 CausalMutation disease CLINVAR Compound and digenic heterozygosity predicts lifetime arrhythmic outcome and sudden cardiac death in desmosomal gene-related arrhythmogenic right ventricular cardiomyopathy. 24070718 2013
Entrez Id: 1832
Gene Symbol: DSP
DSP 		0.960 CausalMutation disease CLINVAR Risk stratification in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers. 23671136 2013
Entrez Id: 1832
Gene Symbol: DSP
DSP 		0.960 Biomarker disease GENOMICS_ENGLAND Genetics of arrhythmogenic right ventricular cardiomyopathy: a practical guide for physicians. 23500315 2013
Entrez Id: 1832
Gene Symbol: DSP
DSP 		0.960 GeneticVariation disease CLINVAR The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. 24503780 2014
Entrez Id: 1832
Gene Symbol: DSP
DSP 		0.960 CausalMutation disease CLINVAR The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. 24503780 2014