Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0040479
Disease: Torsades de Pointes
Torsades de Pointes
0.500 GeneticVariation disease BEFREE We identified the KCNH2-H562R mutation in a 65-year-old man with a prolonged QTc interval who had experienced an episode of torsade de pointes. 25819988 2015
CUI: C0040479
Disease: Torsades de Pointes
Torsades de Pointes
0.500 GeneticVariation disease BEFREE We describe a case of torsade de pointes (TdP) caused by sevoflurane in a patient with c-LQTS genotype 2 (LQT2). 27555138 2016
CUI: C0040479
Disease: Torsades de Pointes
Torsades de Pointes
0.500 Biomarker disease LHGDN To determine what role genetic variation in the hERG gene plays in drug-induced arrhythmias, we screened DNA samples collected from 105 atrial-fibrillation patients treated with dofetilide for polymorphisms, seven of whom developed TdP. 15522280 2004
CUI: C0040479
Disease: Torsades de Pointes
Torsades de Pointes
0.500 GeneticVariation disease BEFREE Thus, patients with an acute MI carrying the KCNH2-K897T polymorphism had an 8-fold greater risk of experiencing TdP compared with controls (95% confidence interval = 2-40). 22338672 2012
CUI: C0040479
Disease: Torsades de Pointes
Torsades de Pointes
0.500 Biomarker disease BEFREE This study evaluated the I Kr blocking potency of a series of antiarrhythmics associated with a range of clinical risks of TdP in two such systems: mouse AT-1 cells (in which I Kr is the major repolarizing current) and Ltk cells transiently transfected with HERG (n = 4-10 cells per drug). 11602820 2001
CUI: C0040479
Disease: Torsades de Pointes
Torsades de Pointes
0.500 Biomarker disease BEFREE These data indicate that HERG is LQT2 and suggest a likely cellular mechanism for torsade de pointes. 7889573 1995
CUI: C0040479
Disease: Torsades de Pointes
Torsades de Pointes
0.500 GeneticVariation disease BEFREE The most common problem is acquired long QT syndrome caused by drugs that block human ether-a-go-go-related-gene (hERG) K(+) channels, delay cardiac repolarization and increase the risk of torsades de pointes arrhythmia (TdP). 15749156 2005
CUI: C0040479
Disease: Torsades de Pointes
Torsades de Pointes
0.500 Biomarker disease BEFREE The main mechanism underlying an acquired QT syndrome and a potentially fatal arrhythmia called torsades de pointes is the inhibition of potassium channel encoded by hERG (the human ether-a-go-go-related gene). 18988205 2009
CUI: C0040479
Disease: Torsades de Pointes
Torsades de Pointes
0.500 GeneticVariation disease BEFREE The main mechanism of QT prolongation and TdP is block of the rapid component of the cardiac delayed rectifier K(+) current (I(Kr)), which is encoded by hERG (human ether-à-go-go-related gene). 20467834 2010
CUI: C0040479
Disease: Torsades de Pointes
Torsades de Pointes
0.500 GeneticVariation disease BEFREE The level of inhibition of the human Ether-à-go-go-related gene (hERG) channel is one of the earliest preclinical markers used to predict the risk of a compound causing Torsade-de-Pointes (TdP) arrhythmias. 21300721 2011
CUI: C0040479
Disease: Torsades de Pointes
Torsades de Pointes
0.500 GeneticVariation disease BEFREE The blockade of the human ether-a-go-go-related gene (HERG) channel is a major concern for QT prolongation and Torsade de Pointes risk. 23103500 2013
CUI: C0040479
Disease: Torsades de Pointes
Torsades de Pointes
0.500 GeneticVariation disease BEFREE The antihistamine terfenadine blocks HERG channels, and can cause QT prolongation and torsades de pointes, whereas its carboxylate fexofenadine lacks HERG blocking activity.2. 12411421 2002
CUI: C0040479
Disease: Torsades de Pointes
Torsades de Pointes
0.500 GeneticVariation disease BEFREE Role of a KCNH2 polymorphism (R1047 L) in dofetilide-induced Torsades de Pointes. 15522280 2004
CUI: C0040479
Disease: Torsades de Pointes
Torsades de Pointes
0.500 GeneticVariation disease BEFREE Rare mutations in KCNH2 provide the pathogenic substrate for type 2 congenital long QT syndrome (LQTS), thus placing this cardiac potassium channel squarely in the intersection between congenital LQTS (the "Rosetta stone" of the heritable channelopathies) and acquired LQTS (drug-induced TdP). 16253929 2005
CUI: C0040479
Disease: Torsades de Pointes
Torsades de Pointes
0.500 Biomarker disease BEFREE Putative interactions between the Human Ether-a-go-go Related Gene (HERG), QT interval prolongation and Torsades de Pointes (TdP) are now integral components of any discussion on drug safety. 15464027 2004
CUI: C0040479
Disease: Torsades de Pointes
Torsades de Pointes
0.500 GeneticVariation disease BEFREE Propranolol (1 micromol/L), a beta blocker, completely prevented the effect of isoproterenol to persistently or transiently increase TDR and to induce TdP in the LQT1 and LQT2 models, but facilitated TdP in the LQT3 model. 10688323 1999
CUI: C0040479
Disease: Torsades de Pointes
Torsades de Pointes
0.500 Biomarker disease CTD_human Probucol aggravates long QT syndrome associated with a novel missense mutation M124T in the N-terminus of HERG. 15043509 2004
CUI: C0040479
Disease: Torsades de Pointes
Torsades de Pointes
0.500 Biomarker disease BEFREE Pause dependence of TdP onset is predominant in LQT2 but absent or rare in LQT1. 17088455 2006
CUI: C0040479
Disease: Torsades de Pointes
Torsades de Pointes
0.500 Biomarker disease CTD_human Mechanisms of arsenic-induced prolongation of cardiac repolarization. 15213294 2004
CUI: C0040479
Disease: Torsades de Pointes
Torsades de Pointes
0.500 GeneticVariation disease BEFREE KCNQ1 and KCNH2 are the two most common potassium channel genes causing long QT syndrome (LQTS), an inherited cardiac arrhythmia featured by QT prolongation and increased risks of developing torsade de pointes and sudden death. 18808722 2008
CUI: C0040479
Disease: Torsades de Pointes
Torsades de Pointes
0.500 GeneticVariation disease BEFREE In LQTS2, an aberrant HERG gene that encodes the potassium channel IKr leads to insufficient IKr activity and delayed repolarization, causing ECG abnormalities and torsades de pointes (TdP). 10090227 1999
CUI: C0040479
Disease: Torsades de Pointes
Torsades de Pointes
0.500 Biomarker disease BEFREE In long QT syndrome type 2 (I<sub>Kr</sub> blockade or bradycardia), the higher Ca<sup>2+</sup> influx via I<sub>Ca,L</sub> causes Ca<sup>2+</sup> overload, spontaneous sarcoplasmic reticulum Ca<sup>2+</sup> release, and reactivation of I<sub>Ca,L</sub> that triggers early afterdepolarizations and torsades de pointes. 29330129 2018
CUI: C0040479
Disease: Torsades de Pointes
Torsades de Pointes
0.500 Biomarker disease BEFREE However, typical cases of Torsade de pointes occurred in association with AV block and LQT2. 29929706 2018
CUI: C0040479
Disease: Torsades de Pointes
Torsades de Pointes
0.500 GeneticVariation disease BEFREE High concentrations of intravenous nicorandil, a potassium channel opener, have been shown to be capable of decreasing QT and TDR, and preventing TdP in LQT1 and LQT2 but not in LQT3. 15892662 2005
CUI: C0040479
Disease: Torsades de Pointes
Torsades de Pointes
0.500 Biomarker disease BEFREE Her ECG revealed QT-prolongation associated with LQT2-specific T-U wave patterns, T wave alternans, long QT-dependent torsade de pointes (TdP) and ventricular fibrillation (VF). 29037423 2019