Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C0264893
Disease: Nodal rhythm disorder
Nodal rhythm disorder 		0.300 Biomarker CLINGEN High prevalence of concealed Brugada syndrome in patients with atrioventricular nodal reentrant tachycardia. 25998140

2015
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C0264893
Disease: Nodal rhythm disorder
Nodal rhythm disorder 		0.300 Biomarker CLINGEN Epicardial Ventricular Tachycardia Ablation in a Patient With Brugada ECG Pattern and Mutation of PKP2 and DSP Genes. 25900994

2015
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C0264893
Disease: Nodal rhythm disorder
Nodal rhythm disorder 		0.300 Biomarker CLINGEN Missense mutations in plakophilin-2 cause sodium current deficit and associate with a Brugada syndrome phenotype. 24352520

2014
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C0264893
Disease: Nodal rhythm disorder
Nodal rhythm disorder 		0.300 Biomarker CLINGEN Arrhythmogenic cardiomyopathy and provocable Brugada ECG in a patient caused by missense mutation in plakophilin-2. 24681023

2014
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C0264893
Disease: Nodal rhythm disorder
Nodal rhythm disorder 		0.300 Biomarker CLINGEN Desmosomes and the sodium channel complex: implications for arrhythmogenic cardiomyopathy and Brugada syndrome. 24656989

2014
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C0264893
Disease: Nodal rhythm disorder
Nodal rhythm disorder 		0.300 Biomarker CLINGEN Sodium current deficit and arrhythmogenesis in a murine model of plakophilin-2 haploinsufficiency. 22764151

2012
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C0264893
Disease: Nodal rhythm disorder
Nodal rhythm disorder 		0.300 Biomarker CLINGEN Loss of plakophilin-2 expression leads to decreased sodium current and slower conduction velocity in cultured cardiac myocytes. 19661460

2009
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C0264893
Disease: Nodal rhythm disorder
Nodal rhythm disorder 		0.300 Biomarker CLINGEN Plakophilins 2a and 2b: constitutive proteins of dual location in the karyoplasm and the desmosomal plaque. 8922383

1996