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
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: 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: 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: 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: C0340493
Disease: Paroxysmal familial ventricular fibrillation
Paroxysmal familial ventricular fibrillation 		0.310 Biomarker disease GENOMICS_ENGLAND
CUI: C1846242
Disease: Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis 		0.300 ChromosomalRearrangement disease ORPHANET
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		0.100 Biomarker disease HPO
CUI: C0013902
Disease: Elliptocytosis, Hereditary
Elliptocytosis, Hereditary 		0.100 Biomarker disease HPO
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest 		0.100 Biomarker disease HPO
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 Biomarker phenotype HPO
CUI: C0027092
Disease: Myopia
Myopia 		0.100 Biomarker disease HPO
CUI: C0030591
Disease: Paroxysmal ventricular tachycardia
Paroxysmal ventricular tachycardia 		0.100 Biomarker disease HPO
CUI: C0033687
Disease: Proteinuria
Proteinuria 		0.100 Biomarker phenotype HPO
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.100 Biomarker disease HPO