Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.700 Biomarker disease BEFREE Sixteen genes such as the KCNQ1, KCNH2, and SCN5A have been reported for association with LQTS. 31565860 2020
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
0.700 GeneticVariation disease BEFREE The compound heterozygous mutations of W176X and G589S coexisting in KCNQ1 gene of homologous chromosomes, resulting in more severe phenotype, are the likely pathogenic and genetic risks of LQTS and USD in this Chinese family. 31565860 2020
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
0.700 GeneticVariation disease BEFREE The sodium channel gene SCN5A and potassium channel genes KCNQ1 and KCNH2 have been widely reported to be genetic risk factors for arrhythmia including Brugada syndrome and long QT syndrome (LQTS). 31751991 2020
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.700 GeneticVariation disease BEFREE The sodium channel gene SCN5A and potassium channel genes KCNQ1 and KCNH2 have been widely reported to be genetic risk factors for arrhythmia including Brugada syndrome and long QT syndrome (LQTS). 31751991 2020
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
0.700 GeneticVariation disease BEFREE KCNQ1 mutations can result in channel defects and lead to several diseases including atrial fibrillation and long QT syndrome. 31825788 2020
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.700 GeneticVariation disease BEFREE Our study was a multicenter observational case series of 148 pregnancies from 103 families (80 mothers, 23 fathers) with familial long QT syndrome (60 with LQT1, 29 with LQT2, 14 with LQT3) who were recruited from 11 international centers with expertise in hereditary heart rhythm diseases, pediatric and/or adult electrophysiology, and high-risk pregnancies. 31520628 2020
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.700 Biomarker disease BEFREE KCNQ1, KCNH2, and SCN5A are the most common genes responsible for long QT syndrome and Brugada syndrome. 31696929 2020
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.700 Biomarker disease BEFREE Patients had LQTS type 1 (LQT1), type 2 (LQT2), and type 3 (LQT3) (616 probands and 508 family members), with KCNQ1 (n = 521), KCNH2 (n = 487) and SCN5A (n = 116) genes. 30758498 2019
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.700 GeneticVariation disease BEFREE Our results show that ribociclib, but not palbociclib, could act by down-regulating the expression of KCNH2 (encoding for potassium channel hERG) and up-regulating SCN5A and SNTA1 (encoding for sodium channels Nav1.5 and syntrophin-α1, respectively), three genes associated with long QT syndrome. 31529317 2019
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
0.700 Biomarker disease BEFREE Patients had LQTS type 1 (LQT1), type 2 (LQT2), and type 3 (LQT3) (616 probands and 508 family members), with KCNQ1 (n = 521), KCNH2 (n = 487) and SCN5A (n = 116) genes. 30758498 2019
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.700 GeneticVariation disease BEFREE Functional characterization of a novel SCN5A variant associated with long QT syndrome and sudden cardiac death. 31455979 2019
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
0.700 GeneticVariation disease BEFREE We generated PSMi001-A and PSMi008-A hiPSC lines from two individuals belonging to a South African (SA) founder population in which the malignant KCNQ1-A341V mutation cosegregates with the Long QT Syndrome (LQTS) phenotype. 31398660 2019
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
0.700 Biomarker disease BEFREE The potential role of sodium channel blockers in patients with potassium channel-mediated long QT syndrome (ie, LQT1 and LQT2) has not been investigated in detail. 31006312 2019
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
0.700 Biomarker disease BEFREE Genotype-positive patients with LQTS (784 LQT1, 746 LQT2, and 233 LQT3) were compared with 2043 genotype-negative family members. 31610692 2019
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
0.700 GeneticVariation disease BEFREE We generated human induced pluripotent stem cells (hiPSCs) from a symptomatic Long QT Syndrome (LQTS) type 1 patient, belonging to a South African (SA) founder population segregating the heterozygous mutation c.1022C > T p.A341V on the KCNQ1 gene. 30878014 2019
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
0.700 GeneticVariation disease BEFREE We looked for cases showing the clinical features of both BWS and long QT syndrome (LQTS), which is often associated with KCNQ1 variants. 30635621 2019
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
0.700 Biomarker disease BEFREE ML277 provides insights and a tool to investigate the gating mechanism of KCNQ1 channels, and our study reveals a new strategy for treating long QT syndrome by specifically enhancing the AO state of native I<sub>Ks</sub> currents. 31329101 2019
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
0.700 GeneticVariation disease BEFREE The disruption of hERG trafficking caused by the KCNQ1-T587M mutation is likely the reason why some patients exhibit severe LQTS phenotypes. 30591322 2019
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.700 GeneticVariation disease BEFREE We identified a novel SCN5A variant (A1656D) in a LQTS patient with a distinct response to mexiletine resulting in suppression of non-sustained ventricular tachycardia and manifestation of premature atrial contraction. 31506521 2019
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
0.700 GeneticVariation disease BEFREE Clinical, electrophysiological and genetic characterization of a large pedigree (<i>n</i> = 241 family members) with LQT syndrome caused by a 12-base-pair duplication in exon 8 of the <i>KCNQ1</i> gene duplicating four amino acids in the carboxyterminal KCNQ1 domain (<i>KCNQ1</i>dup12; p.R360_Q361dupQKQR, NM_000218.2, hg19). 31293497 2019
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
0.700 GeneticVariation disease BEFREE Type 1 long-QT syndrome is associated with the genetic variants of KCNQ1 gene that encodes Kv7.1, the α-subunit of the voltage-gated potassium channel QKT subfamily member 1 that channels the slow component of the outwardly rectifying K<sup>+</sup> channel current in cardiac myocytes. 29058180 2018
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
0.700 AlteredExpression disease BEFREE After ATO treatment, the Kcnq1ot1 and Kcnq1 expression levels were down regulated. lncRNA Kcnq1ot1 knockdown prolonged the action potential duration (APD) in vitro and exerted LQTS in vivo. 29339628 2018
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.700 GeneticVariation disease BEFREE As proof-of-concept we extracted the wild-type and mutant of exon 12 and exon 17 of SCN5A genetic DNA from patients with long QT syndrome or Brugada syndrome by touchdown PCR and performed a successful point mutation discrimination in the AMDM platform. 29423467 2018
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
0.700 GeneticVariation disease BEFREE The study cohort consisted of 67 KCNQ1 mutation carriers and 13 family members who were suspected as having LQTS due to sudden cardiac death or syncope from 36 unrelated families. 29439887 2018
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
0.700 GeneticVariation disease BEFREE [<sup>11</sup>C]mHED-PET was performed in 25 patients with LQTS (LQT1: n=14; LQT2: n=11) and 20 healthy controls and correlated with clinical parameters. 28864717 2018