Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1
0.300 Biomarker disease CLINGEN Mutation in S6 domain of HCN4 channel in patient with suspected Brugada syndrome modifies channel function. 27553229 2016
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1
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
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1
0.300 Biomarker disease CLINGEN Role of HCN4 channel in preventing ventricular arrhythmia. 19165230 2009
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1
0.300 Biomarker disease CLINGEN Functional characterization of a trafficking-defective HCN4 mutation, D553N, associated with cardiac arrhythmia. 15123648 2004