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 We designed multivariate logistic models to predict the presence of the KCNH2 mutation or moxifloxacin while adjusting for the level of QTc prolongation and the level of heart rate in LQT2 patients. 21315844 2011
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 GeneticVariation disease BEFREE This study characterized the properties of a novel KCNH2 mutation discovered in a LQT2 patient resuscitated from a ventricular fibrillation arrest. 21483829 2011
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 GeneticVariation disease BEFREE The risk for life-threatening cardiac events from birth through age 40 years (comprising aborted cardiac arrest [ACA] or sudden cardiac death [SCD]) was assessed among 1,166 LQT2 male (n = 490) and female (n = 676) patients by the location of the LQTS-causing mutation in the KCNH2 channel (prespecified in the primary analysis as pore-loop vs. non-pore-loop). 21440677 2011
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 GeneticVariation disease BEFREE Our results suggest that a rare polymorphism KCNE1-D85N underlies the development of an LQT2 phenotype in this young athlete by interacting with KCNH2 to cause a dominant-negative effect to reduce I(Kr). 21712262 2011
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 GeneticVariation disease BEFREE Of these, zebrafish models have involved targeting two different KCNH2 gene (long QT syndrome 2) orthologues, termed zerg-2 and zerg-3, with differing cardiac phenotypes. 20438705 2010
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 GeneticVariation disease BEFREE Type 2 congenital long QT syndrome (LQT2) results from KCNH2 or hERG gene mutations. hERG encodes the K(v)11.1 alpha subunit of the rapidly activating delayed rectifier K(+) current in the heart. 20931094 2010
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 GeneticVariation disease BEFREE Overlapping LQT1 and LQT2 phenotype in a patient with long QT syndrome associated with loss-of-function variations in KCNQ1 and KCNH2. 21164565 2010
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 CausalMutation disease CLINVAR Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. 19841300 2009
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 GeneticVariation disease BEFREE KCNH2 gene mutations disrupting rapid component of I(K) (I(Kr)) underlie type 2 congenital long QT syndrome (LQT2). 19419905 2009
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 CausalMutation disease CLINVAR Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. 19716085 2009
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 GeneticVariation disease CLINVAR Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. 19841300 2009
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 GeneticVariation disease UNIPROT Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. 19716085 2009
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 SusceptibilityMutation disease CLINVAR High prevalence of four long QT syndrome founder mutations in the Finnish population. 19160088 2009
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 GeneticVariation disease CLINVAR Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. 19716085 2009
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 CausalMutation disease CLINVAR High prevalence of four long QT syndrome founder mutations in the Finnish population. 19160088 2009
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 Biomarker disease GENOMICS_ENGLAND A novel KCNH2 mutation as a modifier for short QT interval. 18692916 2009
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 GeneticVariation disease CLINVAR Latent genetic backgrounds and molecular pathogenesis in drug-induced long-QT syndrome. 19843919 2009
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 CausalMutation disease CLINVAR Not all hERG pore domain mutations have a severe phenotype: G584S has an inactivation gating defect with mild phenotype compared to G572S, which has a dominant negative trafficking defect and a severe phenotype. 19490267 2009
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 CausalMutation disease CLINVAR Identification of the gene causing long QT syndrome in an Israeli family. 19070294 2008
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 CausalMutation disease CLINVAR Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers. 18752142 2008
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 CausalMutation disease CLINVAR Mutation site dependent variability of cardiac events in Japanese LQT2 form of congenital long-QT syndrome. 18441445 2008
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 GeneticVariation disease BEFREE The present study was designed to determine whether the location of KCNH2 mutations would influence the arrhythmic risk in LQT2 patients. 18441445 2008
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 GeneticVariation disease BEFREE Type 2 congenital long QT syndrome (LQT-2) is linked to mutations in the human ether a-go-go-related gene (HERG) and is characterized by rate-corrected QT interval (QTc) prolongation, ventricular arrhythmias, syncope, and sudden death. 18551196 2008
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 CausalMutation disease CLINVAR Long QT and Brugada syndrome gene mutations in New Zealand. 17905336 2007
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 GeneticVariation disease UNIPROT Mechanisms of pharmacological rescue of trafficking-defective hERG mutant channels in human long QT syndrome. 16361248 2006