Disease: Congenital long QT syndrome ×
Source: ALL
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 GeneticVariation disease CLINVAR Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. 10973849 2000
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		0.200 Biomarker disease BEFREE In LQT1 subtype of inherited long QT syndrome, repolarization abnormalities originating from defective I(Ks) render patients vulnerable to ventricular arrhythmia during sudden sympathetic activation. 18365896 2008
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		0.200 GeneticVariation disease BEFREE The most prevalent LQTS variant (LQT1) is caused by mutations in the KCNQ1 gene, with approximately half of the genotyped patients carrying KCNQ1 mutations. 18606002 2008
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 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 CausalMutation disease CLINVAR Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. 10973849 2000
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		0.200 GeneticVariation disease BEFREE Mutation analysis in congenital Long QT Syndrome--a case with missense mutations in KCNQ1 and SCN5A. 12820704 2003
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 GeneticVariation disease BEFREE His history was noteworthy for congenital LQTS due to a point mutation in the KVLQT1-gene on chromosome 11. 15549512 2004
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		0.200 GeneticVariation disease BEFREE Inherited long QT syndrome (LQTS) recently has been associated with mutations in genes coding for potassium (KVLQT1, KCNE1, and HERG) or sodium (SCN5A) ion channels involved in regulating either sodium inward or potassium outward currents of heart cells, resulting in prolongation of the repolarization period. 9654228 1998
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 CLINVAR Recessive cardiac phenotypes in induced pluripotent stem cell models of Jervell and Lange-Nielsen syndrome: disease mechanisms and pharmacological rescue. 25453094 2014
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 LQTS in Northern BC: homozygosity for KCNQ1 V205M presents with a more severe cardiac phenotype but with minimal impact on auditory function. 23844633 2014
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 GeneticVariation disease CLINVAR A spectrum of functional effects for disease causing mutations in the Jervell and Lange-Nielsen syndrome. 11530100 2001
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		0.200 GeneticVariation disease BEFREE These data extend the range of known KCNQ1 mutations associated with both recessive and dominant forms of congenital long QT syndrome, and demonstrate that the R518X allele may be associated with or without congenital deafness. 10737999 2000
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 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: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		0.200 CausalMutation disease CLINVAR A KCNQ1 V205M missense mutation causes a high rate of long QT syndrome in a First Nations community of northern British Columbia: a community-based approach to understanding the impact. 18580685 2008
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 Compound mutations: a common cause of severe long-QT syndrome. 15051636 2004
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		0.200 GeneticVariation disease BEFREE The most common form of LQTS is due to mutations in the potassium channel gene KVLQT1, but their effects on associated currents are still unknown. 9302275 1997
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		0.200 GeneticVariation disease CLINVAR Calmodulin is essential for cardiac IKS channel gating and assembly: impaired function in long-QT mutations. 16556865 2006
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