Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2 		0.500 GeneticVariation disease BEFREE Long QT syndrome with a high mortality rate caused by a novel G572R missense mutation in KCNH2. 10735633 2000
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.700 Biomarker disease BEFREE Long QT syndrome: biophysical and pharmacologic mechanisms in LQT3. 10921801 2000
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2 		0.500 GeneticVariation disease BEFREE Long QT syndrome in neonates: conduction disorders associated with HERG mutations and sinus bradycardia with KCNQ1 mutations. 14998624 2004
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		0.700 GeneticVariation disease BEFREE Long QT syndrome in neonates: conduction disorders associated with HERG mutations and sinus bradycardia with KCNQ1 mutations. 14998624 2004
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2 		0.500 Biomarker disease BEFREE Long QT syndrome (LQTS) genetic testing was conducted and a diagnosis of LQT2 was confirmed by the identification of mutation in KCNH2 (HERG). 19694797 2010
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.700 GeneticVariation disease BEFREE Long QT syndrome and dilated cardiomyopathy with SCN5A p.R1193Q polymorphism: cardioverter-defibrillator implantation at 27 months. 22519808 2012
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		0.700 GeneticVariation disease BEFREE Long QT syndrome (LQTS) 1 is the most common type of inherited LQTS and is linked to mutations in the KCNQ1 gene. 23000022 2012
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		0.700 Biomarker disease BEFREE Long QT syndrome (LQTS) is a cardiac channelopathy predisposing to syncope and sudden death secondary to LQT-triggered ventricular arrhythmias. 23095322 2014
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.700 GeneticVariation disease BEFREE Long QT syndrome (LQTS) type 3 is characterized by prolonged ventricular repolarization due to persistent sodium inward current secondary to a mutation in SCN5a, the gene encoding for the α-subunit of the sodium channel. 23612729 2013
Entrez Id: 3765
Gene Symbol: KCNJ9
KCNJ9 		0.010 GeneticVariation disease BEFREE Long QT syndrome type 13 (LQT13) is caused by loss-of-function mutation in the KCNJ5-encoded cardiac G-protein-coupled inward rectifier potassium channel subtype 4 protein. 23872692 2013
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2 		0.500 GeneticVariation disease BEFREE Long QT syndrome type 2 (LQT2) is caused by mutations in the human ether-a-go‑go-related gene (hERG). 24993425 2014
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
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: 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: 3757
Gene Symbol: KCNH2
KCNH2 		0.500 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 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: 3757
Gene Symbol: KCNH2
KCNH2 		0.500 GeneticVariation disease BEFREE Long QT syndrome KCNH2 mutation with sequential fetal and maternal sudden death. 29881912 2018
Entrez Id: 859
Gene Symbol: CAV3
CAV3 		0.190 GeneticVariation disease BEFREE Long QT syndrome caveolin-3 mutations differentially modulate K<sub>v</sub> 4 and Ca<sub>v</sub> 1.2 channels to contribute to action potential prolongation. 30588629 2019
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2 		0.500 GeneticVariation disease BEFREE Long QT syndrome in chromosome 7q35q36.3 deletion involving KCNH2 gene: Warning for chlorpheniramine prescription. 31347270 2019
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2 		0.500 GeneticVariation disease BEFREE Long QT syndrome (LQTS) mutation carriers have elevated the risk of cardiac events even in the absence of QTc prolongation; however, mutation penetrance in patients with normal QTc may be reflected in abnormal T-wave shape, particularly in KCNH2 mutation carriers. 31579959 2019
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2 		0.500 GeneticVariation disease BEFREE HERG(1) K(+) channel mutations are responsible for one form of dominantly inherited long QT syndrome (LQT). 10753933 2000
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		0.700 GeneticVariation disease BEFREE KCNQ1 gene mutations and the respective genotype-phenotype correlations in the long QT syndrome. 12388934 2002
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		0.700 GeneticVariation disease BEFREE KCNQ1 mutations were limited to LQTS families. 12702160 2003
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		0.700 GeneticVariation disease BEFREE KCNQ1 mutations lead to the long QT syndrome (LQTS), characterized by a prolonged QT interval, syncopes and sudden death. 15194462 2004
Entrez Id: 287
Gene Symbol: ANK2
ANK2 		0.170 GeneticVariation disease LHGDN Ankyrin-B gene mutation might not play the major role in LQTS in Japanese. 16864073 2006