PKP2, plakophilin 2, 5318

N. diseases: 82; N. variants: 112
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0520806
Disease: Unexplained sudden death
Unexplained sudden death
0.100 GeneticVariation phenotype CLINVAR Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice. 20400443 2010