Disease: Long QT Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.500 GeneticVariation disease BEFREE This study aims to evaluate the genetic contribution of a KCNH2 variant for the two LQTS phenotypes. 27816319 2017
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.500 GeneticVariation disease BEFREE Rescue of aberrant gating by a genetically encoded PAS (Per-Arnt-Sim) domain in several long QT syndrome mutant human ether-á-go-go-related gene potassium channels. 21536673 2011
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.500 GeneticVariation disease BEFREE In this paper, we will report a case of drug-induced long QT syndrome associated with an H(1)-receptor antagonist, hydroxyzine, in which a mutation was identified in the HERG gene. 19057127 2008
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.500 GeneticVariation disease BEFREE To date, research on the human ether-a-go-go related gene (hERG) has focused on this potassium channel's role in cardiac repolarization and Long QT Syndrome (LQTS). 23459091 2013
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.500 GeneticVariation disease BEFREE Functional analysis of KCNH2 gene mutations of type 2 long QT syndrome in larval zebrafish using microscopy and electrocardiography. 30047011 2019
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.500 GeneticVariation disease BEFREE In conclusion, short-long RR pattern increased APD dispersion only in LQT2 rabbits through heterogeneous APD restitution and the short-term memory, underscoring the genotype-specific triggering of arrhythmias in LQT syndrome. 31619700 2019
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.500 GeneticVariation disease BEFREE To optimize the search for HERG mutations, we have determined the genomic structure of HERG and investigated mutations in LQTS families. 9600240 1998
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.500 GeneticVariation disease BEFREE Functional assessment of compound mutations in the KCNQ1 and KCNH2 genes associated with long QT syndrome. 16253915 2005
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		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
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.500 GeneticVariation disease BEFREE Mutations in the cyclic nucleotide binding domain (CNBD) of the human ether-a-go-go-related gene (HERG) K+ channel are associated with LQT2, a form of hereditary Long QT syndrome (LQTS). 11278781 2001
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.500 GeneticVariation disease BEFREE Our study consisted of 1,923 U.S. subjects from the Rochester-based LQTS Registry with genotype-positive LQT1 (n = 879), LQT2 (n = 807), and LQT3 (n = 237). 29504689 2018
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.500 GeneticVariation disease BEFREE A method for automated dideoxy fingerprinting (ddF) using capillary array electrophoresis (CAE) was developed and the efficiency of the method was tested by analyzing 24 DNA samples with mutations in one of the genes KCNQ1 and KCNH2, which are involved in 50% of LQTS cases. 11668638 2001
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.500 GeneticVariation disease BEFREE Loss-of-function variants in the KCNH2-encoded Kv11.1 potassium channel cause long QT syndrome (LQTS) type 2 (LQT2). 31493592 2020
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.500 GeneticVariation disease BEFREE The human ether-a-go-go-related gene (herg) encodes a K+ current (IHERG) that plays a fundamental role in heart excitability by regulating the action potential repolarization (IKr); mutations of this gene are responsible for the chromosome 7-linked long QT syndrome (LQT2). 9485040 1998
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.500 GeneticVariation disease BEFREE Consent to the use of blood samples of patients had been given by the Bioethics Commission of the Medical University of Silesia. mSSCP analysis and sequencing did not confirm the occurrence of mutations in KCNQ1 and HERG associated with the occurrence of LQTS. 22461049 2012
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.500 GeneticVariation disease BEFREE We assessed occurrence of LQTS signs in individuals from 30 Czech families with mutations in KCNQ1 and KCNH2 genes. 22727609 2013
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.500 GeneticVariation disease BEFREE Novel intracellular transport-refractory mutations in KCNH2 identified in patients with symptomatic long QT syndrome. 29146210 2018
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.500 GeneticVariation disease BEFREE Chromosome 7-linked LQTS (LQT2) has been correlated with mutations in the human ether-a-go-go-related gene (HERG). 12185453 2002
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.500 GeneticVariation disease BEFREE We evaluated 647 patients (386 with a mutation at the LQT1 locus, 206 with a mutation at the LQT2 locus, and 55 with a mutation at the LQT3 locus) from 193 consecutively genotyped families with the long-QT syndrome. 12736279 2003
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.500 Biomarker disease BEFREE Transmission distortion of disease-causing alleles in long QT syndrome (LQTS) has been reported, suggesting a potential role of KCNQ1 and KCNH2 in reproduction. 26669661 2016
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.500 Biomarker disease BEFREE Fluconazole-induced long QT syndrome via impaired human ether-a-go-go-related gene (hERG) protein trafficking in rabbits. 27189953 2017
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.500 GeneticVariation disease BEFREE Characterization of a novel missense mutation in the pore of HERG in a patient with long QT syndrome. 10517660 1999
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.500 GeneticVariation disease BEFREE Direct bidirectional sequencing of long QT syndrome genes identified a previously unreported HERG missense mutation (R752Q). 12621127 2003
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.500 Biomarker disease BEFREE Recently, the genes for the LQTS inked to chromosomes 3 (LQT3), 7 (LQT2), and 11 (LQT1) were identified as SCN5A, the cardiac sodium channel gene and as HERG and KvLQT1 potassium channel genes. 9272507 1997
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.500 GeneticVariation disease BEFREE Several mutations in the human ether-a-go-go-related K+ channel gene (HERG or KCNH2) cause long QT syndrome (LQT2) by reducing the intracellular transport (trafficking) of the channel protein to the cell surface. 12837749 2003