DSP, desmoplakin, 1832

N. diseases: 28; N. variants: 131
Disease: Long QT Syndrome 1 ×
Source: CLINVAR ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.100 CausalMutation disease CLINVAR Loss-of-function desmoplakin I and II mutations underlie dominant arrhythmogenic cardiomyopathy with a hair and skin phenotype. 30382575 2019
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.100 CausalMutation disease CLINVAR Atlas of the clinical genetics of human dilated cardiomyopathy. 25163546 2015
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.100 CausalMutation disease CLINVAR Clinical Presentation, Long-Term Follow-Up, and Outcomes of 1001 Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Patients and Family Members. 25820315 2015
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.100 CausalMutation disease CLINVAR Disease mutations in desmoplakin inhibit Cx43 membrane targeting mediated by desmoplakin-EB1 interactions. 25225338 2014
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.100 CausalMutation disease CLINVAR Familial evaluation in arrhythmogenic right ventricular cardiomyopathy: impact of genetics and revised task force criteria. 21606390 2011
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.100 CausalMutation disease CLINVAR Arrhythmogenic right ventricular dysplasia/cardiomyopathy: pathogenic desmosome mutations in index-patients predict outcome of family screening: Dutch arrhythmogenic right ventricular dysplasia/cardiomyopathy genotype-phenotype follow-up study. 21606396 2011
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.100 CausalMutation disease CLINVAR A new diagnostic test for arrhythmogenic right ventricular cardiomyopathy. 19279339 2009
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.100 CausalMutation disease CLINVAR Left-dominant arrhythmogenic cardiomyopathy: an under-recognized clinical entity. 19095136 2008