DSP, desmoplakin, 1832

N. diseases: 191; N. variants: 152
Disease: Cardiomyopathy, Dilated ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397516943
rs397516943
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0007193
Disease:
Cardiomyopathy, Dilated 		T 0.700 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
dbSNP: rs397516943
rs397516943
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0007193
Disease:
Cardiomyopathy, Dilated 		T 0.700 CausalMutation CLINVAR Implantable Cardioverter-Defibrillator Therapy in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy: Predictors of Appropriate Therapy, Outcomes, and Complications. 28588093 2017
dbSNP: rs397516943
rs397516943
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0007193
Disease:
Cardiomyopathy, Dilated 		T 0.700 CausalMutation CLINVAR Characterizing the Molecular Pathology of Arrhythmogenic Cardiomyopathy in Patient Buccal Mucosa Cells. 26850880 2016
dbSNP: rs397516943
rs397516943
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0007193
Disease:
Cardiomyopathy, Dilated 		T 0.700 CausalMutation CLINVAR Impact of genotype on clinical course in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated mutation carriers. 25616645 2015
dbSNP: rs397516943
rs397516943
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0007193
Disease:
Cardiomyopathy, Dilated 		T 0.700 CausalMutation CLINVAR Incremental value of cardiac magnetic resonance imaging in arrhythmic risk stratification of arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers. 23810894 2013