DSP, desmoplakin, 1832

N. diseases: 191; N. variants: 152
Disease: Ventricular arrhythmia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085612
Disease: Ventricular arrhythmia
Ventricular arrhythmia 		0.120 Biomarker disease BEFREE Genetic screening of the DSP gene was performed in 47 consecutive patients with a phenotype of either an ARVC (n = 24) or an idiopathic dilated cardiomyopathy (DCM), who presented with ventricular arrhythmias or a family history of sudden death (n = 23) (aged 40 ± 19 years, 62% males). 24938629 2014
CUI: C0085612
Disease: Ventricular arrhythmia
Ventricular arrhythmia 		0.120 GeneticVariation disease BEFREE Mutations in desmoplakin can result in devastating skin blistering diseases and arrhythmogenic right ventricular cardiomyopathy, a heart muscle disorder associated with ventricular arrhythmias, heart failure, and sudden death. 21756917 2011
CUI: C0085612
Disease: Ventricular arrhythmia
Ventricular arrhythmia 		0.120 GeneticVariation disease CLINVAR