Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.430 GeneticVariation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.430 CausalMutation CLINVAR A systematic approach to assessing the clinical significance of genetic variants. 24033266

2013

Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.430 GeneticVariation CLINVAR A systematic approach to assessing the clinical significance of genetic variants. 24033266

2013

Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.430 GeneticVariation CLINVAR Prevalence of desmosomal protein gene mutations in patients with dilated cardiomyopathy. 20716751

2010

Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.430 GeneticVariation CLINVAR Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome. 16467215

2006

Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.430 GeneticVariation CLINVAR Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathy. 16917092

2006

Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.430 GeneticVariation CLINVAR Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. 11063735

2000