Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder)
0.300 Biomarker disease CLINGEN Mutation in S6 domain of HCN4 channel in patient with suspected Brugada syndrome modifies channel function. 27553229 2016
CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder)
0.300 Biomarker disease 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
CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder)
0.300 Biomarker disease CLINGEN Role of HCN4 channel in preventing ventricular arrhythmia. 19165230 2009
CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder)
0.300 Biomarker disease CLINGEN Functional characterization of a trafficking-defective HCN4 mutation, D553N, associated with cardiac arrhythmia. 15123648 2004