Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1832
Gene Symbol: DSP
DSP 		0.900 Biomarker disease MGD
Entrez Id: 1832
Gene Symbol: DSP
DSP 		0.900 Biomarker disease CTD_human
Entrez Id: 1832
Gene Symbol: DSP
DSP 		0.900 CausalMutation disease CLINVAR Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency. 10594734 1999
Entrez Id: 1832
Gene Symbol: DSP
DSP 		0.900 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 		0.900 GeneticVariation disease UNIPROT Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy. 12373648 2002
Entrez Id: 1832
Gene Symbol: DSP
DSP 		0.900 GeneticVariation disease UNIPROT Clinical profile of four families with arrhythmogenic right ventricular cardiomyopathy caused by dominant desmoplakin mutations. 15941723 2005
Entrez Id: 1832
Gene Symbol: DSP
DSP 		0.900 CausalMutation disease CLINVAR Novel mutation in desmoplakin causes arrhythmogenic left ventricular cardiomyopathy. 16061754 2005
Entrez Id: 1832
Gene Symbol: DSP
DSP 		0.900 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 		0.900 CausalMutation disease CLINVAR Left-dominant arrhythmogenic cardiomyopathy: an under-recognized clinical entity. 19095136 2008
Entrez Id: 1832
Gene Symbol: DSP
DSP 		0.900 CausalMutation disease CLINVAR A new diagnostic test for arrhythmogenic right ventricular cardiomyopathy. 19279339 2009
Entrez Id: 1832
Gene Symbol: DSP
DSP 		0.900 GeneticVariation disease UNIPROT Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy. 20031617 2009
Entrez Id: 1832
Gene Symbol: DSP
DSP 		0.900 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 		0.900 GeneticVariation disease CLINVAR Prevalence of desmosomal protein gene mutations in patients with dilated cardiomyopathy. 20716751 2010
Entrez Id: 1832
Gene Symbol: DSP
DSP 		0.900 CausalMutation disease CLINVAR Prevalence of desmosomal protein gene mutations in patients with dilated cardiomyopathy. 20716751 2010
Entrez Id: 1832
Gene Symbol: DSP
DSP 		0.900 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 		0.900 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 		0.900 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 		0.900 CausalMutation disease CLINVAR Risk stratification in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers. 23671136 2013
Entrez Id: 1832
Gene Symbol: DSP
DSP 		0.900 Biomarker disease GENOMICS_ENGLAND Genetics of arrhythmogenic right ventricular cardiomyopathy: a practical guide for physicians. 23500315 2013
Entrez Id: 1832
Gene Symbol: DSP
DSP 		0.900 GeneticVariation disease CLINVAR Risk stratification in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers. 23671136 2013
Entrez Id: 1832
Gene Symbol: DSP
DSP 		0.900 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 		0.900 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 		0.900 CausalMutation 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 		0.900 CausalMutation disease CLINVAR Clinical Presentation, Long-Term Follow-Up, and Outcomes of 1001 Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Patients and Family Members. 25820315 2015
Entrez Id: 1832
Gene Symbol: DSP
DSP 		0.900 Biomarker disease GENOMICS_ENGLAND Early-onset heart failure, alopecia, and cutaneous abnormalities associated with a novel compound heterozygous mutation in desmoplakin. 25516398 2015