PKP2, plakophilin 2, 5318

N. diseases: 82; N. variants: 112
Disease: Autistic Disorder ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.100 GeneticVariation disease CLINVAR Molecular insights into arrhythmogenic right ventricular cardiomyopathy caused by plakophilin-2 missense mutations. 22781308 2012
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.100 GeneticVariation disease CLINVAR Clinical features of arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in plakophilin-2. 16549640 2006
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.100 GeneticVariation disease CLINVAR Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy. 15489853 2004