DisGeNET - a database of gene-disease associations

PKP2, plakophilin 2, 5318

N. diseases: 82; N. variants: 112

Disease: Arrhythmogenic Right Ventricular Dysplasia ×

Variant: rs111517471 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs111517471

Entrez Id:	5318
Gene Symbol:	PKP2

PKP2

CUI:	C0349788
Disease:

Arrhythmogenic Right Ventricular Dysplasia

0.700

CausalMutation

CLINVAR

TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populations.

23812740

2013

dbSNP:

rs111517471

Entrez Id:	5318
Gene Symbol:	PKP2

PKP2

CUI:	C0349788
Disease:

Arrhythmogenic Right Ventricular Dysplasia

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

Entrez Id:	5318
Gene Symbol:	PKP2

PKP2

CUI:	C0349788
Disease:

Arrhythmogenic Right Ventricular Dysplasia

0.700

CausalMutation

CLINVAR

Familial evaluation in arrhythmogenic right ventricular cardiomyopathy: impact of genetics and revised task force criteria.

21606390

2011

dbSNP:

rs111517471

Entrez Id:	5318
Gene Symbol:	PKP2

PKP2

CUI:	C0349788
Disease:

Arrhythmogenic Right Ventricular Dysplasia

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

Entrez Id:	5318
Gene Symbol:	PKP2

PKP2

CUI:	C0349788
Disease:

Arrhythmogenic Right Ventricular Dysplasia

0.700

CausalMutation

CLINVAR

Distinguishing arrhythmogenic right ventricular cardiomyopathy/dysplasia-associated mutations from background genetic noise.

21636032

2011

dbSNP:

rs111517471

Entrez Id:	5318
Gene Symbol:	PKP2

PKP2

CUI:	C0349788
Disease:

Arrhythmogenic Right Ventricular Dysplasia

0.700

CausalMutation

CLINVAR

Familial evaluation for diagnosis of arrhythmogenic right ventricular dysplasia.

21822014

2011

dbSNP:

rs111517471

Entrez Id:	5318
Gene Symbol:	PKP2

PKP2

CUI:	C0349788
Disease:

Arrhythmogenic Right Ventricular Dysplasia

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

Entrez Id:	5318
Gene Symbol:	PKP2

PKP2

CUI:	C0349788
Disease:

Arrhythmogenic Right Ventricular Dysplasia

0.700

CausalMutation

CLINVAR

Shared desmosome gene findings in early and late onset arrhythmogenic right ventricular dysplasia/cardiomyopathy.

20857253

2010

dbSNP:

rs111517471

Entrez Id:	5318
Gene Symbol:	PKP2

PKP2

CUI:	C0349788
Disease:

Arrhythmogenic Right Ventricular Dysplasia

0.700

CausalMutation

CLINVAR

Morphologic variants of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy a genetics-magnetic resonance imaging correlation study.

19358943

2009

dbSNP:

rs111517471

Entrez Id:	5318
Gene Symbol:	PKP2

PKP2

CUI:	C0349788
Disease:

Arrhythmogenic Right Ventricular Dysplasia

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

Entrez Id:	5318
Gene Symbol:	PKP2

PKP2

CUI:	C0349788
Disease:

Arrhythmogenic Right Ventricular Dysplasia

0.700

CausalMutation

CLINVAR

Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy.

20031617

2009

dbSNP:

rs111517471

Entrez Id:	5318
Gene Symbol:	PKP2

PKP2

CUI:	C0349788
Disease:

Arrhythmogenic Right Ventricular Dysplasia

0.700

GeneticVariation

CLINVAR

Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy.

20031617

2009

dbSNP:

rs111517471

Entrez Id:	5318
Gene Symbol:	PKP2

PKP2

CUI:	C0349788
Disease:

Arrhythmogenic Right Ventricular Dysplasia

0.700

CausalMutation

CLINVAR

Clinical features of arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in plakophilin-2.

16549640

2006

dbSNP:

rs111517471

Entrez Id:	5318
Gene Symbol:	PKP2

PKP2

CUI:	C0349788
Disease:

Arrhythmogenic Right Ventricular Dysplasia

0.700

CausalMutation

CLINVAR

Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy.

16567567

2006

dbSNP:

rs111517471

Entrez Id:	5318
Gene Symbol:	PKP2

PKP2

CUI:	C0349788
Disease:

Arrhythmogenic Right Ventricular Dysplasia

0.700

CausalMutation

CLINVAR

Penetrance of mutations in plakophilin-2 among families with arrhythmogenic right ventricular dysplasia/cardiomyopathy.

17010805

2006

dbSNP:

rs111517471

Entrez Id:	5318
Gene Symbol:	PKP2

PKP2

CUI:	C0349788
Disease:

Arrhythmogenic Right Ventricular Dysplasia

0.700

CausalMutation

CLINVAR

Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy.

15489853

2004

dbSNP:

rs111517471

Entrez Id:	5318
Gene Symbol:	PKP2

PKP2

CUI:	C0349788
Disease:

Arrhythmogenic Right Ventricular Dysplasia

0.700

CausalMutation

CLINVAR

How shortening a channel may lower its conductance. The case of des-Val7-DVal8-gramicidin A.

2412583

1985