Disease: Cardiac Arrhythmia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.300 GeneticVariation phenotype BEFREE Some normal-hearing carriers of heterozygous missense variants of KCNE1 and KCNQ1 have prolonged QT intervals, a dominantly inherited phenotype designated Romano-Ward syndrome (RWS), which is also associated with arrhythmias and elevated risk of sudden death. 30461122 2019
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.300 GeneticVariation phenotype BEFREE Transient myocardial ischemia may have exaggerated the instability from the arrhythmic substrate, even though KCNE1-D85N abnormalities alone are not thought to cause fatal arrhythmias. 31308327 2019
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.300 Biomarker phenotype BEFREE In the heart, KCNQ1 associates with KCNE1 subunits to form I<sub>Ks</sub> channels that regulate heart rhythm. 31329101 2019
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.300 GeneticVariation phenotype BEFREE Patients with KCNE1(G38S) had a rate-dependent repolarization abnormality similar to patients with LQT2 and, therefore, may have a potential risk to develop lethal arrhythmias. 27255646 2017
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.300 Biomarker phenotype BEFREE We have created a novel transgenic LQT5 rabbit model with increased susceptibility to drug-induced arrhythmias that may represent a useful model for testing proarrhythmic potential and for investigations of the mechanisms underlying arrhythmias and sudden cardiac death due to repolarization disturbances. 27076034 2016
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.300 GeneticVariation phenotype BEFREE Mutations in either KCNQ1 or KCNE1 genes lead to life-threatening cardiac arrhythmias causing long QT syndrome, short QT syndrome, sinus bradycardia and atrial fibrillation. 24721657 2014
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.300 Biomarker phenotype BEFREE KCNE1, a membrane protein that spans the membrane once is responsible for modulating potassium channel functions and plays an important role in the etiology of arrhythmia. 25366730 2014
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.300 Biomarker phenotype RGD Dynamic changes in HCN2, HCN4, KCNE1, and KCNE2 expression in ventricular cells from acute myocardial infarction rat hearts. 20381460 2010
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.300 GeneticVariation phenotype BEFREE Rate-dependent facilitation of K(+) conductance, a key property of I(Ks) that enables action potential shortening at higher heart rates, was defective for both KCNE1 C-terminal mutations, and may contribute to the clinical phenotype of arrhythmias triggered by heart rate elevations during exercise in LQTS mutations. 19340287 2009
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.300 GeneticVariation phenotype BEFREE We demonstrate that each additional copy of the KCNE1 D85N minor allele is associated with a considerable 10.5 ms prolongation of the age-, gender- and heart rate-adjusted QT interval and could thus modulate repolarization-related arrhythmia susceptibility at the population level. 19019189 2009
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.300 Biomarker phenotype BEFREE KCNE1 encodes the beta-subunit of cardiac voltage-gated K(+) channels and causes LQTS, which is characterized by the prolongation of the QT interval and torsades de pointes, a lethal arrhythmia. 19695459 2009
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.300 GeneticVariation phenotype BEFREE To detect single nucleotide polymorphisms (SNP) in SCN5A, KCNQ1 and KCNE1 of post-MI patients, and to assess whether they are related to electrophysiological markers of cardiac arrhythmia (QT interval) and the clinical course. 18803136 2008
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.300 GeneticVariation phenotype BEFREE Because KVLQT1 mutations cause arrhythmia susceptibility in the long QT syndrome (LQT), we hypothesized that mutations in KCNE1 also cause this disorder. 9354802 1997