Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1399226
Disease: Ectopic rhythm
Ectopic rhythm
0.300 Biomarker phenotype CLINGEN Role of ATP-sensitive K+ channels in cardiac arrhythmias. 24367007 2014
CUI: C1399226
Disease: Ectopic rhythm
Ectopic rhythm
0.300 Biomarker phenotype 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
CUI: C1399226
Disease: Ectopic rhythm
Ectopic rhythm
0.300 Biomarker phenotype CLINGEN Molecular genetic and functional association of Brugada and early repolarization syndromes with S422L missense mutation in KCNJ8. 22056721 2012
CUI: C1399226
Disease: Ectopic rhythm
Ectopic rhythm
0.300 Biomarker phenotype 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
CUI: C1399226
Disease: Ectopic rhythm
Ectopic rhythm
0.300 Biomarker phenotype CLINGEN Ventricular fibrillation with prominent early repolarization associated with a rare variant of KCNJ8/KATP channel. 19120683 2009
CUI: C1399226
Disease: Ectopic rhythm
Ectopic rhythm
0.300 Biomarker phenotype CLINGEN Mouse model of Prinzmetal angina by disruption of the inward rectifier Kir6.1. 11984590 2002