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: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.330 GeneticVariation disease BEFREE 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: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.330 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: C0085612
Disease: Ventricular arrhythmia
Ventricular arrhythmia 		0.010 Biomarker disease BEFREE Increased K<sub>V</sub> current is a manifestation of KCNE5 disruption that is most likely common to both mouse and human hearts, providing a plausible mechanistic basis for human KCNE5-linked AF and BrS.-David, J.-P., Lisewski, U., Crump, S. M., Jepps, T. A., Bocksteins, E., Wilck, N., Lossie, J., Roepke, T. K., Schmitt, N., Abbott, G. W. Deletion in mice of X-linked, Brugada syndrome- and atrial fibrillation-associated Kcne5 augments ventricular K<sub>V</sub> currents and predisposes to ventricular arrhythmia. 30289750 2019
CUI: C0151636
Disease: Premature ventricular contractions
Premature ventricular contractions 		0.010 GeneticVariation phenotype BEFREE Intracardiac ECG revealed that Kcne5 deletion caused ventricular premature beats, increased susceptibility to induction of polymorphic ventricular tachycardia (60 vs. 24% in Kcne5<sup>+/0</sup> mice), and 10% shorter ventricular refractory period. 30289750 2019
CUI: C0344432
Disease: Ventricular tachycardia, polymorphic
Ventricular tachycardia, polymorphic 		0.010 GeneticVariation disease BEFREE Intracardiac ECG revealed that Kcne5 deletion caused ventricular premature beats, increased susceptibility to induction of polymorphic ventricular tachycardia (60 vs. 24% in Kcne5<sup>+/0</sup> mice), and 10% shorter ventricular refractory period. 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: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.330 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: C0742343
Disease: Acute Chest Syndrome
Acute Chest Syndrome 		0.010 GeneticVariation disease BEFREE This study suggests an association between rs697829, a common single nucleotide polymorphism (SNP) from KCNE5, and ECG measurements and survival in postacute ACS patients. 21985337 2012
CUI: C0948089
Disease: Acute Coronary Syndrome
Acute Coronary Syndrome 		0.010 GeneticVariation disease BEFREE KCNE5 polymorphism rs697829 is associated with QT interval and survival in acute coronary syndromes patients. 21985337 2012
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: C0340493
Disease: Paroxysmal familial ventricular fibrillation
Paroxysmal familial ventricular fibrillation 		0.310 GeneticVariation disease BEFREE This study investigated whether KCNE5 mutations could be responsible for BrS and other idiopathic ventricular fibrillation (IVF). 21493962 2011
CUI: C2751898
Disease: Ventricular Fibrillation, Paroxysmal Familial, 1
Ventricular Fibrillation, Paroxysmal Familial, 1 		0.010 GeneticVariation disease BEFREE This study investigated whether KCNE5 mutations could be responsible for BrS and other idiopathic ventricular fibrillation (IVF). 21493962 2011
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.330 GeneticVariation disease BEFREE One-hundred fifty-eight patients with AF were screened for mutations in the coding region of KCNE5. 18313602 2008
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.330 GeneticVariation disease LHGDN One-hundred fifty-eight patients with AF were screened for mutations in the coding region of KCNE5. 18313602 2008
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.330 GeneticVariation disease BEFREE Because the KCNE5 gene is located on the X chromosome, the protection conferred by the 97T polymorphism may help explain the gender-related difference in the risk of AF. 16054468 2005
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.010 Biomarker disease BEFREE Does KCNE5 play a role in long QT syndrome? 15193977 2004
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
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		0.010 Biomarker group BEFREE The specific distribution in adult tissues, the putative channel function, and the expression pp6tern in the developing mouse embryo suggest that KCNE1L could be involved in the development of the cardiac abnormalities as well as of some neurological signs observed in patients with AMME contiguous gene syndrome. 10493825 1999
CUI: C1855496
Disease: Contiguous gene syndrome
Contiguous gene syndrome 		0.010 Biomarker disease BEFREE The specific distribution in adult tissues, the putative channel function, and the expression pp6tern in the developing mouse embryo suggest that KCNE1L could be involved in the development of the cardiac abnormalities as well as of some neurological signs observed in patients with AMME contiguous gene syndrome. 10493825 1999
CUI: C0340493
Disease: Paroxysmal familial ventricular fibrillation
Paroxysmal familial ventricular fibrillation 		0.310 Biomarker disease GENOMICS_ENGLAND