Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0348626
Disease: Other specified cardiac arrhythmias
Other specified cardiac arrhythmias
0.300 Biomarker phenotype CLINGEN Two novel Brugada syndrome-associated mutations increase KV4.3 membrane expression and function. 26016905 2015
CUI: C0348626
Disease: Other specified cardiac arrhythmias
Other specified cardiac arrhythmias
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: C0348626
Disease: Other specified cardiac arrhythmias
Other specified cardiac arrhythmias
0.300 Biomarker phenotype CLINGEN Sodium current and potassium transient outward current genes in Brugada syndrome: screening and bioinformatics. 22284586 2012
CUI: C0348626
Disease: Other specified cardiac arrhythmias
Other specified cardiac arrhythmias
0.300 Biomarker phenotype CLINGEN Transient outward current (I(to)) gain-of-function mutations in the KCND3-encoded Kv4.3 potassium channel and Brugada syndrome. 21349352 2011
CUI: C0348626
Disease: Other specified cardiac arrhythmias
Other specified cardiac arrhythmias
0.300 Biomarker phenotype CLINGEN Cloning and expression of the human kv4.3 potassium channel. 10200233 1999