PKP2, plakophilin 2, 5318

N. diseases: 82; N. variants: 112
Disease: Sinus Node Dysfunction (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0428908
Disease: Sinus Node Dysfunction (disorder)
Sinus Node Dysfunction (disorder) 		0.300 Biomarker disease CLINGEN Epicardial Ventricular Tachycardia Ablation in a Patient With Brugada ECG Pattern and Mutation of PKP2 and DSP Genes. 25900994 2015
CUI: C0428908
Disease: Sinus Node Dysfunction (disorder)
Sinus Node Dysfunction (disorder) 		0.300 Biomarker disease CLINGEN High prevalence of concealed Brugada syndrome in patients with atrioventricular nodal reentrant tachycardia. 25998140 2015
CUI: C0428908
Disease: Sinus Node Dysfunction (disorder)
Sinus Node Dysfunction (disorder) 		0.300 Biomarker disease CLINGEN Arrhythmogenic cardiomyopathy and provocable Brugada ECG in a patient caused by missense mutation in plakophilin-2. 24681023 2014
CUI: C0428908
Disease: Sinus Node Dysfunction (disorder)
Sinus Node Dysfunction (disorder) 		0.300 Biomarker disease CLINGEN Desmosomes and the sodium channel complex: implications for arrhythmogenic cardiomyopathy and Brugada syndrome. 24656989 2014
CUI: C0428908
Disease: Sinus Node Dysfunction (disorder)
Sinus Node Dysfunction (disorder) 		0.300 Biomarker disease CLINGEN Missense mutations in plakophilin-2 cause sodium current deficit and associate with a Brugada syndrome phenotype. 24352520 2014
CUI: C0428908
Disease: Sinus Node Dysfunction (disorder)
Sinus Node Dysfunction (disorder) 		0.300 Biomarker disease CLINGEN Sodium current deficit and arrhythmogenesis in a murine model of plakophilin-2 haploinsufficiency. 22764151 2012
CUI: C0428908
Disease: Sinus Node Dysfunction (disorder)
Sinus Node Dysfunction (disorder) 		0.300 Biomarker disease CLINGEN Loss of plakophilin-2 expression leads to decreased sodium current and slower conduction velocity in cultured cardiac myocytes. 19661460 2009
CUI: C0428908
Disease: Sinus Node Dysfunction (disorder)
Sinus Node Dysfunction (disorder) 		0.300 Biomarker disease CLINGEN Plakophilins 2a and 2b: constitutive proteins of dual location in the karyoplasm and the desmosomal plaque. 8922383 1996