Disease: Long Qt Syndrome 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 GeneticVariation disease BEFREE Functional study of a KCNH2 mutant: Novel insights on the pathogenesis of the LQT2 syndrome. 31361068 2019
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 GeneticVariation disease BEFREE In female transgenic LQT2 rabbits (HERG-G628S, loss of IKr), hormone effects on QT/action potential duration (APD) were assessed (0.2-200 ng/L). 30938413 2019
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 GeneticVariation disease BEFREE These are the first data to visually demonstrate mutation-specific differences in the trafficking-deficient LQT2 phenotype, and this study has identified a novel way to categorize trafficking-deficient LQT2 mutations based on differences in intracellular retention. 29875689 2018
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 GeneticVariation disease UNIPROT Tetrameric Assembly of K+ Channels Requires ER-Located Chaperone Proteins. 27916661 2017
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 GeneticVariation disease CLINVAR Contribution of a KCNH2 variant in genotyped long QT syndrome: Romano-Ward syndrome under double mutations and acquired long QT syndrome under heterozygote. 27816319 2017
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 Biomarker disease GENOMICS_ENGLAND Computational Analysis of the Mode of Action of Disopyramide and Quinidine on hERG-Linked Short QT Syndrome in Human Ventricles. 29085299 2017
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 GeneticVariation disease BEFREE Long QT syndrome 2 (LQT2) is caused by mutations in the human ether-a-go-go-related gene (hERG). 27803431 2016
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 CausalMutation disease CLINVAR KCNQ1 mutations associated with Jervell and Lange-Nielsen syndrome and autosomal recessive Romano-Ward syndrome in India-expanding the spectrum of long QT syndrome type 1. 27041150 2016
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 GeneticVariation disease CLINVAR Compound Mutations Cause Increased Cardiac Events in Children with Long QT Syndrome: Can the Sequence Homology-Based Tools be Applied for Prediction of Phenotypic Severity? 27041096 2016
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 CausalMutation disease CLINVAR Follow-up of 316 molecularly defined pediatric long-QT syndrome patients: clinical course, treatments, and side effects. 26063740 2015
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 GeneticVariation disease CLINVAR Congenital long QT syndrome with compound mutations in the KCNH2 gene. 24057343 2014
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 Biomarker disease BEFREE Validating this model, control iPS-CM treated with HERG-blocking drugs recapitulated the LQT2 phenotype. 25254341 2014
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 GeneticVariation disease BEFREE We generated LQTS2-specific CMs (A561V missense mutation in KCNH2) from iPSCs using the virus-free reprogramming method. 24623279 2014
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 Biomarker disease BEFREE Enhancement of HERG protein expression through Hsp90 inhibition of CHIP binding might be a novel therapeutic strategy for long QT syndrome 2 caused by trafficking abnormalities of HERG proteins. 23963841 2013
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 GeneticVariation disease BEFREE Defective functional PM expression of the human ether-a-go-go-related gene (hERG) K(+) channel leads to the prolongation of the ventricular action potential that causes long QT syndrome 2 (LQT2), with increased propensity for arrhythmia and sudden cardiac arrest. 24152733 2013
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 GeneticVariation disease BEFREE Loss-of-function KCNH2 mutations cause the type 2 long QT syndrome (LQT2), and most LQT2-linked missense mutations inhibit the trafficking of Kv11.1 channels. 23864605 2013
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 CausalMutation disease CLINVAR Single nucleotide deletion mutation of KCNH2 gene is responsible for LQT syndrome in a 3-generation Korean family. 24015048 2013
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 GeneticVariation disease BEFREE Mutations in the human ether-a-go-go-related gene (hERG) are responsible for congenital Type 2 long QT syndrome (LQT2). 23134353 2013
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 GeneticVariation disease BEFREE KCNH2 mutations cause type 2 long QT syndrome (LQT2), which increases the risk for life-threatening ventricular arrhythmias. 23546015 2013
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 GeneticVariation disease UNIPROT Identification and functional characterization of the novel human ether-a-go-go-related gene (hERG) R744P mutant associated with hereditary long QT syndrome 2. 22314138 2012
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 GeneticVariation disease BEFREE Mutations in the human ether-a-go-go-related gene 1 (hERG1) cause type 2 long QT syndrome (LQT2). 22876326 2012
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 SusceptibilityMutation disease CLINVAR Model for long QT syndrome type 2 using human iPS cells demonstrates arrhythmogenic characteristics in cell culture. 22052944 2012
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 CausalMutation disease CLINVAR Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome. 22949429 2012
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 GeneticVariation disease BEFREE Identification and functional characterization of the novel human ether-a-go-go-related gene (hERG) R744P mutant associated with hereditary long QT syndrome 2. 22314138 2012
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 CausalMutation disease CLINVAR End-recovery QTc: a useful metric for assessing genetic variants of unknown significance in long-QT syndrome. 22429796 2012