Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome
0.200 Biomarker disease BEFREE LQT1 is a subtype of LQTS caused by mutations in KCNQ1, affecting the slow delayed-rectifier potassium current (<i>I</i><sub>Ks</sub>), which is essential for cardiac repolarization. 30967788 2019
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome
0.200 GeneticVariation disease BEFREE Loss-of-function (LOF) mutations in KCNQ1 are the most common cause of congenital long QT syndrome (LQTS), type 1 LQTS, an inherited genetic predisposition to cardiac arrhythmia and sudden cardiac death. 31518351 2019
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome
0.200 GeneticVariation disease BEFREE To establish a KCNQ1 mutant-specific induced pluripotent stem cell (iPSC) model of a Chinese inherited long QT syndrome (LQTS) patient and to explore the pathogenesis of KCNQ1 mutations. 31226583 2019
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome
0.200 Biomarker disease BEFREE Mutations that induce loss of function (LOF) or dysfunction of the human KCNQ1 channel are responsible for susceptibility to a life-threatening heart rhythm disorder, the congenital long QT syndrome (LQTS). 29532034 2018
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome
0.200 GeneticVariation disease BEFREE Several mutations linked to the LQTS have been identified, the most common of which have been found in the potassium channel KCNQ1 (LQT1) and hERG (LQT2) genes and in the sodium channel SCN5A (LQT3) gene. 27054604 2018
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome
0.200 GeneticVariation disease BEFREE We report three novel variants (KCNQ1 p.46, KCNH2 p.D803Y, SCN5A p.G1391R) which have never been reported for this AA location in LQTS; the phenotype-genotype correlation suggests their pathogenicity. 30244407 2018
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome
0.200 GeneticVariation disease BEFREE We identified a LQTS family harboring three compound mutations in different genes (KCNQ1-R174C, hERG-E1039X and SCN5A-E428K). 29449639 2018
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome
0.200 CausalMutation disease CLINVAR Mechanisms of KCNQ1 channel dysfunction in long QT syndrome involving voltage sensor domain mutations. 29532034 2018
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome
0.200 GeneticVariation disease BEFREE At least 16 genes have been implicated in LQTS; the yield of genetic analysis of 3 genes (KCNQ1, KCNH2, and SCN5A) is about 70%, with KCNQ1 mutations accounting for ∼50% of positive cases. 28438721 2017
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome
0.200 CausalMutation disease CLINVAR Autosomal recessive long QT syndrome, type 1 in eight families from Saudi Arabia. 28944242 2017
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome
0.200 Biomarker disease BEFREE This study describes one physiological form of KCNQ1, depolarized voltage sensors with a closed pore in the absence of PIP<sub>2</sub>, and reveals a regulatory interaction between CaM and KCNQ1 that may explain CaM-mediated LQTS. 28575668 2017
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome
0.200 GeneticVariation disease BEFREE Four patients had LQTS type 1, 6 had LQTS type 2, and 1 had a disease-associated mutation in KCNQ1 and a variant of unknown significance in KCNH2 gene. 28532774 2017
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome
0.200 GeneticVariation disease BEFREE We identified four genetic variants (KCNQ1-p.R583H, KCNH2-p.C108Y, KCNH2-p.K897T, and KCNE1-p.G38S) in an LQTS family. 28749435 2017
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome
0.200 GeneticVariation 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: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome
0.200 GeneticVariation disease CLINVAR Phenotype guided characterization and molecular analysis of Indian patients with long QT syndromes. 27485560 2016
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome
0.200 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: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome
0.200 CausalMutation disease CLINVAR Aggregate penetrance of genomic variants for actionable disorders in European and African Americans. 27831900 2016
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome
0.200 GeneticVariation disease CLINVAR Aggregate penetrance of genomic variants for actionable disorders in European and African Americans. 27831900 2016
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome
0.200 GeneticVariation disease CLINVAR Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction. 26669661 2016
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome
0.200 Biomarker disease BEFREE We assessed the clinical course and the fulfillment of current treatment strategies in molecularly defined pediatric LQTS type 1 and (LQT1) and type 2 (LQT2) patients. 26063740 2015
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome
0.200 GeneticVariation disease CLINVAR Screen-based identification and validation of four new ion channels as regulators of renal ciliogenesis. 26546361 2015
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome
0.200 CausalMutation disease CLINVAR Microscopic mechanisms for long QT syndrome type 1 revealed by single-channel analysis of I(Ks) with S3 domain mutations in KCNQ1. 25444851 2015
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome
0.200 CausalMutation disease CLINVAR Long QT syndrome with mutations in three genes: A rare case. 25935074 2015
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome
0.200 CausalMutation disease CLINVAR Marked, transient, emotion-triggered QT accentuation in an adolescent female with type 1 long QT syndrome. 24666684 2015
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome
0.200 GeneticVariation disease CLINVAR Recessive cardiac phenotypes in induced pluripotent stem cell models of Jervell and Lange-Nielsen syndrome: disease mechanisms and pharmacological rescue. 25453094 2014