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: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.100 GeneticVariation CLINVAR Molecular insights into arrhythmogenic right ventricular cardiomyopathy caused by plakophilin-2 missense mutations. 22781308

2012
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.100 GeneticVariation CLINVAR Clinical features of arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in plakophilin-2. 16549640

2006
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.100 GeneticVariation CLINVAR Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy. 15489853

2004