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 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 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 UNIPROT A mutation in HERG associated with notched T waves in long QT syndrome. 8877771 1996
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 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 BEFREE T1945+6C is a disease-causing mutation.It alters KCNH2 splicing and cosegregates with the LQT2 phenotype. 15364333 2004
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 GeneticVariation disease BEFREE The chromosome 7-linked form of congenital long QT syndrome (LQT2) is caused by mutations in the human ether-a-go-go-related gene (HERG) that encodes the rapidly activating delayed rectifier potassium channel. 10531299 1999
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 GeneticVariation disease UNIPROT Characterization of a novel missense mutation in the pore of HERG in a patient with long QT syndrome. 10517660 1999
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 UNIPROT Mechanisms of pharmacological rescue of trafficking-defective hERG mutant channels in human long QT syndrome. 16361248 2006
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 UNIPROT Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome. 16922724 2006
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 GeneticVariation disease UNIPROT KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population. 12442276 2002
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 HERG are associated with human chromosome 7-linked congenital long QT (LQT-2) syndrome. 9694858 1998
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 GeneticVariation disease UNIPROT Clinical, genetic, and biophysical characterization of a homozygous HERG mutation causing severe neonatal long QT syndrome. 12621127 2003
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 of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. 10973849 2000
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 GeneticVariation disease UNIPROT Long QT syndrome with a high mortality rate caused by a novel G572R missense mutation in KCNH2. 10735633 2000
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 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 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 CLINVAR Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. 15840476 2005