Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
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
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
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
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
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
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
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
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
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
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
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
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
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
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
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
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
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
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
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
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
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
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
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
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
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
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
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
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
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
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
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
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.700 GeneticVariation disease BEFREE We investigated the genetic causes in patients with prolonged QTc intervals who were negative for pathogenic variants in three major LQTS-related genes (KCNQ1, KCNH2, and SCN5A). 29071820 2018
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.700 Biomarker disease BEFREE The study included 59 LQT1 and 72 LQT2 patients from the Rochester-based LQTS Registry with corrected QT (QT<sub>c</sub>) prolongation and a history of AD therapy. 29174490 2018
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.700 CausalMutation disease CLINVAR Identification and characterization of a novel recessive KCNQ1 mutation associated with Romano-Ward Long-QT syndrome in two Iranian families. 29033053 2018
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.700 GeneticVariation disease BEFREE Among the 70 patients enrolled (median age 41±2.1 years, 46% male), 36 were mutation carrier for LQTS (20 KCNQ1 and 16 KCNH2), and 34 were controls. 29688407 2018
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.700 GeneticVariation disease BEFREE Mechanisms of KCNQ1 channel dysfunction in long QT syndrome involving voltage sensor domain mutations. 29532034 2018
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.700 GeneticVariation disease BEFREE Long QT syndrome (LQTS) is a common inheritable arrhythmogenic disorder, often secondary to mutations in the KCNQ1, KCNH2, and SCN5A genes. 29650123 2018
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.700 GeneticVariation disease BEFREE It has been suggested that ∼10%-20% of rare LQTS case-derived variants in the literature may have been published erroneously as LQT1-causative mutations and may be "false positives." 29197658 2018
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.700 GeneticVariation disease BEFREE Identification and characterization of a novel recessive KCNQ1 mutation associated with Romano-Ward Long-QT syndrome in two Iranian families. 29033053 2018
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.700 GeneticVariation disease BEFREE Our objective was to investigate the functional consequences of KCNQ1-R562S mutation in an atypical form of KCNQ1-linked LQTS. 30170673 2018