Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
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
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
0.500 Biomarker disease BEFREE However, typical cases of Torsade de pointes occurred in association with AV block and LQT2. 29929706 2018
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
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
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.500 GeneticVariation disease BEFREE A patient suffered from recurrent seizures during sleep and torsades de pointes with a QTc of 530 ms. Mutational analysis identified a N406K mutation in SCN5A. 29983085 2018
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
0.500 Biomarker disease BEFREE A systematic review was performed to categorize the hERG (human ether-a-go-go-related gene) liability of antihistamines, antipsychotics, and anti-infectives and to compare it with current clinical risk of torsade de pointes (TdP). 28019033 2017
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
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
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
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
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.500 GeneticVariation disease BEFREE Fetal rhythm phenotype and postnatal QTc can predict postnatal rhythm and suggest genotype: bradycardic fetuses usually have KCNQ1 mutation, while those with TdP and/or a postnatal QTc more than 500 ms have SCN5A, KCNH2 or uncharacterized mutations. 25426817 2015
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
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
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
0.500 Biomarker disease BEFREE A greater instability of most aspects of VR already at rest seems to be a salient feature in both LQT1 and LQT2, which might pave the way for early afterdepolarizations and torsades de pointes ventricular tachycardia. 23643511 2013
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.500 GeneticVariation disease BEFREE Four fetuses (2 KCNH2 and 2 SCN5A), all with corrected QT ≥ 620 ms, had frequent episodes of Torsade de Pointes, which were present 22-79% of the time. 24218437 2013
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
0.500 Biomarker disease BEFREE Four fetuses (2 KCNH2 and 2 SCN5A), all with corrected QT ≥ 620 ms, had frequent episodes of Torsade de Pointes, which were present 22-79% of the time. 24218437 2013
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.500 GeneticVariation disease BEFREE Two of the 13 patients (15%) who presented with QT prolongation and TdP were found to carry long QT syndrome mutations (KCNH2-R744X and SCN5A-E446K). 22338672 2012
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
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
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
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
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
0.500 Biomarker disease CTD_human Block of the human Ether-a-go go Related Gene (hERG) ion channel in particular is associated with life-threatening arrhythmias, such as Torsade de Pointes (TdP). 20034863 2010
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
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
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
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
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
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
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.500 Biomarker disease LHGDN Six novel mutations--4 in ANK2, 1 in KCNQ1, and 1 in SCN5A--were found in the patients with TdP. 17161064 2006
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
0.500 Biomarker disease BEFREE Pause dependence of TdP onset is predominant in LQT2 but absent or rare in LQT1. 17088455 2006
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
0.500 GeneticVariation disease BEFREE A likely mechanism for QT interval prolongation and TdP arrhythmias is blockade of the rapid component of the cardiac delayed rectifier K+ current (IKr), which is encoded by human ether-a-go-go-related gene (HERG). 16647758 2006
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.500 Biomarker disease BEFREE Six novel mutations--4 in ANK2, 1 in KCNQ1, and 1 in SCN5A--were found in the patients with TdP. 17161064 2006
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.500 Biomarker disease BEFREE We studied all LQT1 (n=10), LQT2 (n=34), and LQT3 (n=6) patients from 4 centers for whom ECGs of TdP onset were available and analyzed whether pauses preceded TdP onset (first available ECG per patient). 17088455 2006
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
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