PKP2, plakophilin 2, 5318

N. diseases: 82; N. variants: 112
Disease: Aborted sudden cardiac death ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111517471
rs111517471
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C4703449
Disease:
Aborted sudden cardiac death 		T 0.700 CausalMutation CLINVAR TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populations. 23812740 2013
dbSNP: rs111517471
rs111517471
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C4703449
Disease:
Aborted sudden cardiac death 		T 0.700 CausalMutation CLINVAR Compound and digenic heterozygosity in desmosome genes as a cause of arrhythmogenic right ventricular cardiomyopathy in Japanese patients. 22214898 2012
dbSNP: rs111517471
rs111517471
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C4703449
Disease:
Aborted sudden cardiac death 		T 0.700 CausalMutation CLINVAR Distinguishing arrhythmogenic right ventricular cardiomyopathy/dysplasia-associated mutations from background genetic noise. 21636032 2011
dbSNP: rs111517471
rs111517471
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C4703449
Disease:
Aborted sudden cardiac death 		T 0.700 CausalMutation CLINVAR Familial evaluation in arrhythmogenic right ventricular cardiomyopathy: impact of genetics and revised task force criteria. 21606390 2011
dbSNP: rs111517471
rs111517471
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C4703449
Disease:
Aborted sudden cardiac death 		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: rs111517471
rs111517471
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C4703449
Disease:
Aborted sudden cardiac death 		T 0.700 CausalMutation CLINVAR Familial evaluation for diagnosis of arrhythmogenic right ventricular dysplasia. 21822014 2011
dbSNP: rs111517471
rs111517471
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C4703449
Disease:
Aborted sudden cardiac death 		T 0.700 CausalMutation CLINVAR Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice. 20400443 2010
dbSNP: rs111517471
rs111517471
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C4703449
Disease:
Aborted sudden cardiac death 		T 0.700 CausalMutation CLINVAR Diagnostic yield in sudden unexplained death and aborted cardiac arrest in the young: the experience of a tertiary referral center in The Netherlands. 20646679 2010
dbSNP: rs111517471
rs111517471
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C4703449
Disease:
Aborted sudden cardiac death 		T 0.700 CausalMutation CLINVAR Shared desmosome gene findings in early and late onset arrhythmogenic right ventricular dysplasia/cardiomyopathy. 20857253 2010
dbSNP: rs111517471
rs111517471
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C4703449
Disease:
Aborted sudden cardiac death 		T 0.700 CausalMutation CLINVAR Clinical features, survival experience, and profile of plakophylin-2 gene mutations in participants of the arrhythmogenic right ventricular cardiomyopathy registry of South Africa. 19880068 2009
dbSNP: rs111517471
rs111517471
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C4703449
Disease:
Aborted sudden cardiac death 		T 0.700 CausalMutation CLINVAR Desmoglein-2 and desmocollin-2 mutations in dutch arrhythmogenic right ventricular dysplasia/cardiomypathy patients: results from a multicenter study. 20031616 2009
dbSNP: rs111517471
rs111517471
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C4703449
Disease:
Aborted sudden cardiac death 		T 0.700 CausalMutation CLINVAR Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy. 20031617 2009
dbSNP: rs111517471
rs111517471
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C4703449
Disease:
Aborted sudden cardiac death 		T 0.700 CausalMutation CLINVAR Morphologic variants of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy a genetics-magnetic resonance imaging correlation study. 19358943 2009
dbSNP: rs111517471
rs111517471
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C4703449
Disease:
Aborted sudden cardiac death 		T 0.700 CausalMutation CLINVAR Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy. 16567567 2006
dbSNP: rs111517471
rs111517471
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C4703449
Disease:
Aborted sudden cardiac death 		T 0.700 CausalMutation CLINVAR Clinical expression of plakophilin-2 mutations in familial arrhythmogenic right ventricular cardiomyopathy. 16415378 2006
dbSNP: rs111517471
rs111517471
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C4703449
Disease:
Aborted sudden cardiac death 		T 0.700 CausalMutation CLINVAR Penetrance of mutations in plakophilin-2 among families with arrhythmogenic right ventricular dysplasia/cardiomyopathy. 17010805 2006
dbSNP: rs111517471
rs111517471
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C4703449
Disease:
Aborted sudden cardiac death 		T 0.700 CausalMutation CLINVAR Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy. 15489853 2004