DSP, desmoplakin, 1832

N. diseases: 191; N. variants: 152
Disease: Long QT Syndrome 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs746877365
rs746877365
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C4551647
Disease:
Long QT Syndrome 1 		T 0.700 CausalMutation CLINVAR Loss-of-function desmoplakin I and II mutations underlie dominant arrhythmogenic cardiomyopathy with a hair and skin phenotype. 30382575 2019
dbSNP: rs746877365
rs746877365
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C4551647
Disease:
Long QT Syndrome 1 		T 0.700 CausalMutation CLINVAR Clinical Presentation, Long-Term Follow-Up, and Outcomes of 1001 Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Patients and Family Members. 25820315 2015
dbSNP: rs746877365
rs746877365
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C4551647
Disease:
Long QT Syndrome 1 		T 0.700 CausalMutation CLINVAR Atlas of the clinical genetics of human dilated cardiomyopathy. 25163546 2015
dbSNP: rs746877365
rs746877365
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C4551647
Disease:
Long QT Syndrome 1 		T 0.700 CausalMutation CLINVAR Disease mutations in desmoplakin inhibit Cx43 membrane targeting mediated by desmoplakin-EB1 interactions. 25225338 2014
dbSNP: rs746877365
rs746877365
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C4551647
Disease:
Long QT Syndrome 1 		T 0.700 CausalMutation CLINVAR Familial evaluation in arrhythmogenic right ventricular cardiomyopathy: impact of genetics and revised task force criteria. 21606390 2011
dbSNP: rs746877365
rs746877365
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C4551647
Disease:
Long QT Syndrome 1 		T 0.700 CausalMutation 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
dbSNP: rs746877365
rs746877365
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C4551647
Disease:
Long QT Syndrome 1 		T 0.700 CausalMutation CLINVAR A new diagnostic test for arrhythmogenic right ventricular cardiomyopathy. 19279339 2009
dbSNP: rs746877365
rs746877365
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C4551647
Disease:
Long QT Syndrome 1 		T 0.700 CausalMutation CLINVAR Left-dominant arrhythmogenic cardiomyopathy: an under-recognized clinical entity. 19095136 2008