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: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome 		0.100 GeneticVariation CLINVAR Compound and digenic heterozygosity predicts lifetime arrhythmic outcome and sudden cardiac death in desmosomal gene-related arrhythmogenic right ventricular cardiomyopathy. 24070718

2013
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome 		0.100 GeneticVariation CLINVAR Desmin mutations and arrhythmogenic right ventricular cardiomyopathy. 23168288

2013
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome 		0.100 GeneticVariation CLINVAR Compound and digenic heterozygosity contributes to arrhythmogenic right ventricular cardiomyopathy. 20152563

2010