Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
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
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
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
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.700 GeneticVariation disease BEFREE Long QT syndrome mutations in the SCN5A gene are associated with an enhanced late sodium current (I<sub>Na,L</sub>) which may lead to pro-arrhythmic action potential prolongation and intracellular calcium dysregulation. 29754923 2018
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
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
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
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
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
0.700 GeneticVariation disease BEFREE Mechanisms of KCNQ1 channel dysfunction in long QT syndrome involving voltage sensor domain mutations. 29532034 2018
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.700 GeneticVariation disease BEFREE SCN5A(R1193Q) is often identified in patients with type 3 long QT syndrome and Brugada syndrome. 30419068 2018
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
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
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
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
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
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
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
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
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1
0.700 GeneticVariation disease BEFREE Retrospective review was used to compare demographics, symptomatology, and QT parameters of individuals with p.Asp85Asn-KCNE1 in the absence of other rare/ultra-rare variants in LQTS-susceptibility genes and those who underwent comprehensive LQTS genetic testing. 29625280 2018
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
0.700 GeneticVariation disease BEFREE Catecholaminergic polymorphic ventricular tachycardia (CPVT) has been often misdiagnosed as long QT syndrome (LQTS) type 1 (LQT1), which phenotypically mimics CPVT but has a relatively better prognosis. 29925740 2018
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
0.700 GeneticVariation disease BEFREE We aimed to investigate if a KCNQ1 variant [p.(Pro64_Pro70del)], previously reported as pathogenic, contributes to the long-QT syndrome phenotype, co-segregates with disease or affects KCNQ1 function in vitro. 29582136 2018
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
0.700 GeneticVariation disease BEFREE Our study consisted of 1,923 U.S. subjects from the Rochester-based LQTS Registry with genotype-positive LQT1 (n = 879), LQT2 (n = 807), and LQT3 (n = 237). 29504689 2018
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
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
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.700 GeneticVariation disease BEFREE Our study consisted of 1,923 U.S. subjects from the Rochester-based LQTS Registry with genotype-positive LQT1 (n = 879), LQT2 (n = 807), and LQT3 (n = 237). 29504689 2018
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.700 GeneticVariation disease BEFREE Deletion of QKP1507-1509 amino-acids in SCN5A gene product, the voltage-gated Na<sup>+</sup> channel Nav1.5, has been associated with a large phenotypic spectrum of type 3 long QT syndrome, conduction disorder, dilated cardiomyopathy and high incidence of sudden death. 30144447 2018
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.700 Biomarker disease BEFREE Sequence variants in the ion channel genes KCNH2 and SCN5A may cause the cardiac disorder long QT syndrome (LQTS). 29214556 2018
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.700 GeneticVariation disease BEFREE Type 3 long QT syndrome (LQT3) is caused by gain-of-function mutations in the cardiac sodium channel gene (SCN5A). 28339995 2018
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
0.700 GeneticVariation disease BEFREE Complex aberrant splicing in the induced pluripotent stem cell-derived cardiomyocytes from a patient with long QT syndrome carrying KCNQ1-A344Aspl mutation. 29857160 2018
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
0.700 GeneticVariation disease BEFREE We therefore analysed variations in the LQTS-associated genes KCNQ1 (LQT1) and KCNH2 (LQT2) using cardiac blood and myocardial tissue from subjects having died suddenly during MP or NPS use to investigate the relationship between congenital genetic abnormalities and sudden death during illegal drug use. 29855564 2018
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.700 Biomarker disease BEFREE Among VCG parameters, QTpeak and TwEVs significantly differentiated patients with ecLQTS from controls (P ≤ .01 for each) as well as differentiated KCNQ1-encoded type 1 LQTS (ecLQT1), KCNH2-encoded type 2 LQTS (ecLQT2), and SCN5A-encoded type 3 LQTS (ecLQT3) from controls (P < .01). ecLQT3 was differentiated from controls and ecLQT1 and ecLQT2 by the fourth TwEV (P < .01 for each). 28279743 2017
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
0.700 GeneticVariation disease BEFREE For example, in hereditary long QT syndrome due to mutations in KCNQ1 arrhythmic episodes are provoked by exercise and in particular swimming. 28223225 2017
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
0.700 GeneticVariation disease BEFREE Long QT syndrome and left ventricular noncompaction in 4 family members across 2 generations with KCNQ1 mutation. 28249770 2017