Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3764
Gene Symbol: KCNJ8
KCNJ8
CUI: C0264893
Disease: Nodal rhythm disorder
Nodal rhythm disorder 		0.300 Biomarker CLINGEN Role of ATP-sensitive K+ channels in cardiac arrhythmias. 24367007

2014
Entrez Id: 3764
Gene Symbol: KCNJ8
KCNJ8
CUI: C0264893
Disease: Nodal rhythm disorder
Nodal rhythm disorder 		0.300 Biomarker CLINGEN Spectrum and prevalence of mutations involving BrS1- through BrS12-susceptibility genes in a cohort of unrelated patients referred for Brugada syndrome genetic testing: implications for genetic testing. 22840528

2012
Entrez Id: 3764
Gene Symbol: KCNJ8
KCNJ8
CUI: C0264893
Disease: Nodal rhythm disorder
Nodal rhythm disorder 		0.300 Biomarker CLINGEN Molecular genetic and functional association of Brugada and early repolarization syndromes with S422L missense mutation in KCNJ8. 22056721

2012
Entrez Id: 3764
Gene Symbol: KCNJ8
KCNJ8
CUI: C0264893
Disease: Nodal rhythm disorder
Nodal rhythm disorder 		0.300 Biomarker CLINGEN Gain-of-function mutation S422L in the KCNJ8-encoded cardiac K(ATP) channel Kir6.1 as a pathogenic substrate for J-wave syndromes. 20558321

2010
Entrez Id: 3764
Gene Symbol: KCNJ8
KCNJ8
CUI: C0264893
Disease: Nodal rhythm disorder
Nodal rhythm disorder 		0.300 Biomarker CLINGEN Ventricular fibrillation with prominent early repolarization associated with a rare variant of KCNJ8/KATP channel. 19120683

2009
Entrez Id: 3764
Gene Symbol: KCNJ8
KCNJ8
CUI: C0264893
Disease: Nodal rhythm disorder
Nodal rhythm disorder 		0.300 Biomarker CLINGEN Mouse model of Prinzmetal angina by disruption of the inward rectifier Kir6.1. 11984590

2002