Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.500 CausalMutation CLINVAR Exercise increases age-related penetrance and arrhythmic risk in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers. 23871885

2013
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.500 CausalMutation CLINVAR Age-dependent clinical and genetic characteristics in Japanese patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia. 23514727

2013
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.500 CausalMutation CLINVAR Arrhythmogenic right ventricular dysplasia/cardiomyopathy according to revised 2010 task force criteria with inclusion of non-desmosomal phospholamban mutation carriers. 23871674

2013
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.500 CausalMutation CLINVAR Remodeling of the cardiac sodium channel, connexin43, and plakoglobin at the intercalated disk in patients with arrhythmogenic cardiomyopathy. 23178689

2013
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.500 GeneticVariation CLINVAR Risk stratification in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers. 23671136

2013
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.500 CausalMutation CLINVAR An adolescent with possible arrhythmogenic right ventricular dysplasia and long QT syndrome: evaluation and management. 23347029

2013
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.500 GeneticVariation CLINVAR Exercise testing in asymptomatic gene carriers exposes a latent electrical substrate of arrhythmogenic right ventricular cardiomyopathy. 23810883

2013
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.500 CausalMutation CLINVAR TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populations. 23812740

2013
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.500 CausalMutation CLINVAR Modeling of arrhythmogenic right ventricular cardiomyopathy with human induced pluripotent stem cells. 24200905

2013
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.500 GeneticVariation CLINVAR TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populations. 23812740

2013
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.500 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
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.500 GeneticVariation CLINVAR Exercise increases age-related penetrance and arrhythmic risk in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers. 23871885

2013
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.500 CausalMutation CLINVAR Exercise testing in asymptomatic gene carriers exposes a latent electrical substrate of arrhythmogenic right ventricular cardiomyopathy. 23810883

2013
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.500 CausalMutation CLINVAR Molecular autopsy in young sudden cardiac death victims with suspected cardiomyopathy. 22177269

2012
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.500 GeneticVariation CLINVAR PKP2 mutations in sudden death from arrhythmogenic right ventricular cardiomyopathy (ARVC) and sudden unexpected death with negative autopsy (SUDNA). 22019812

2012
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.500 CausalMutation CLINVAR Compound and digenic heterozygosity in desmosome genes as a cause of arrhythmogenic right ventricular cardiomyopathy in Japanese patients. 22214898

2012
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.500 CausalMutation CLINVAR Functional effects of the TMEM43 Ser358Leu mutation in the pathogenesis of arrhythmogenic right ventricular cardiomyopathy. 22458570

2012
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.500 CausalMutation CLINVAR Distinguishing arrhythmogenic right ventricular cardiomyopathy/dysplasia-associated mutations from background genetic noise. 21636032

2011
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.500 CausalMutation CLINVAR Familial evaluation for diagnosis of arrhythmogenic right ventricular dysplasia. 21822014

2011
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.500 CausalMutation CLINVAR Familial evaluation in arrhythmogenic right ventricular cardiomyopathy: impact of genetics and revised task force criteria. 21606390

2011
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.500 GeneticVariation CLINVAR Distinguishing arrhythmogenic right ventricular cardiomyopathy/dysplasia-associated mutations from background genetic noise. 21636032

2011
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.500 GeneticVariation CLINVAR Familial evaluation in arrhythmogenic right ventricular cardiomyopathy: impact of genetics and revised task force criteria. 21606390

2011
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.500 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
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.500 GeneticVariation 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
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.500 CausalMutation CLINVAR Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia. 19863551

2010