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 Mutation in S6 domain of HCN4 channel in patient with suspected Brugada syndrome modifies channel function. 27553229 2016
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 Role of HCN4 channel in preventing ventricular arrhythmia. 19165230 2009
CUI: C0348626
Disease: Other specified cardiac arrhythmias
Other specified cardiac arrhythmias
0.300 Biomarker phenotype CLINGEN Functional characterization of a trafficking-defective HCN4 mutation, D553N, associated with cardiac arrhythmia. 15123648 2004