Disease: Brugada Syndrome (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.620 GeneticVariation disease BEFREE Human KCNE5 mutations are associated with atrial fibrillation (AF)- and Brugada syndrome (BrS)-induced cardiac arrhythmias that can arise from increased potassium current in cardiomyocytes. 30289750 2019
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.620 Biomarker disease GENOMICS_ENGLAND The human AF-associated mutation KCNE5-L65F negative shifted the voltage dependence of K<sub>V</sub>2.1-KCNE5 channels, increasing their maximum current density >2-fold, whereas BrS-associated KCNE5 mutations produced more subtle negative shifts in K<sub>V</sub>2.1 voltage dependence. 30289750 2019
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.620 Biomarker disease GENOMICS_ENGLAND Exome analysis in 34 sudden unexplained death (SUD) victims mainly identified variants in channelopathy-associated genes. 29350269 2018
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.620 Biomarker disease CLINGEN KCNE4 and KCNE5: K(+) channel regulation and cardiac arrhythmogenesis. 27484720 2016
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.620 GeneticVariation disease ORPHANET In 205 Japanese patients with BrS or IVF who tested negative for SCN5A mutation, we conducted a genetic screen for KCNE5 variants. 21493962 2011
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.620 Biomarker disease CLINGEN In 205 Japanese patients with BrS or IVF who tested negative for SCN5A mutation, we conducted a genetic screen for KCNE5 variants. 21493962 2011
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.620 GeneticVariation disease BEFREE This study investigated whether KCNE5 mutations could be responsible for BrS and other idiopathic ventricular fibrillation (IVF). 21493962 2011
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.620 Biomarker disease CLINGEN KCNE1-like gene is deleted in AMME contiguous gene syndrome: identification and characterization of the human and mouse homologs. 10493825 1999