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 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 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 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 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 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 GeneticVariation disease BEFREE Congenital long-QT syndrome (LQTS) is caused by mutations of genes encoding the slow component of the delayed rectifier current (LQT1, LQT5), the rapid component of the delayed rectifier current (LQT2, LQT6), or the Na(+) current (LQT3), resulting in ST-T-wave abnormalities on the ECG. 11104743 2000
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		0.200 GeneticVariation disease CLINVAR Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. 15840476 2005
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		0.200 GeneticVariation disease BEFREE With this method, we identified the mutation(s) in all four patients with congenital LQTS (KCNQ1 A341V, KCNH2 N633D, KCNH2 2768Cdel and KCNE1 K70 N Y81C double mutations). 16155735 2005
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		0.200 GeneticVariation disease CLINVAR Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome. 14678125 2003
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 Genetic studies have identified four forms of congenital long QT syndrome (LQTS) caused by mutations in ion channel genes located on chromosomes 3 (LQT3), 7 (LQT2), 11 (LQT1), and 21 (LQT5). 10688323 1999
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		0.200 GeneticVariation disease BEFREE Efficiency of high resolution melting (HRM) analysis was evaluated for the most prevalent LQTS-causing genes (KCNQ1, KCNH2) using control DNAs and DNAs carrying previously identified gene variants. 20851114 2011
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		0.200 GeneticVariation disease BEFREE Mutations in 11 genes that encode ion channels or their associated proteins cause inherited long QT syndrome (LQTS) and account for approximately 75-80% of cases (LQT1-11). 18591664 2008
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		0.200 GeneticVariation disease BEFREE Given the inconsistencies between the genotype (LQT1) and clinical phenotype (LQT2) in our two LQTS families, together with the finding that the P448R appears to be a common, ethnic-specific polymorphism, mutational analysis was extended to the other LQTS-causing genes resulting in the identification of distinct HERG missense mutations in each of these two families. 15242738 2004