Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
0.700 GeneticVariation disease BEFREE The KCNH2-IVS9-28A/G mutation causes aberrant isoform expression and hERG trafficking defect in cardiomyocytes derived from patients affected by Long QT Syndrome type 2. 28433559 2018
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
0.700 GeneticVariation disease BEFREE Loss of function mutations in the human ether-a-go-go-related gene (hERG) cause long QT syndrome type 2 (LQT2). 28741726 2018
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.700 GeneticVariation disease BEFREE Long QT syndrome type 3 (LQT3) accounts for 5%-10% of long QT syndrome and results from gain-of-function mutations in the SCN5A-encoded sodium channel. 28412158 2018
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
0.700 GeneticVariation disease BEFREE Genetic mutations in KCNH2, which encodes hERG, the alpha subunit of the potassium channel responsible for the I<sub>Kr</sub> current, cause long QT syndrome (LQTS), an inherited cardiac arrhythmia disorder. 28544109 2018
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.700 Biomarker disease GENOMICS_ENGLAND Genotype-phenotype dilemma in a case of sudden cardiac death with the E1053K mutation and a deletion in the SCN5A gene. 28391114 2018
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
0.700 GeneticVariation disease BEFREE Loss-of-function mutations in <i>hERG</i> (encoding the K<sub>v</sub>11.1 voltage-gated potassium channel) cause long-QT syndrome type 2 (LQT2) because of prolonged cardiac repolarization. 28235848 2017
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
0.700 CausalMutation disease CLINVAR Utility of Post-Mortem Genetic Testing in Cases of Sudden Arrhythmic Death Syndrome. 28449774 2017
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
0.700 CausalMutation disease CLINVAR M3 Muscarinic Receptor Signaling Stabilizes a Novel Mutant Human Ether-a-Go-Go-Related Gene Channel Protein via Phosphorylation of Heat Shock Factor 1 in Transfected Cells. 27803431 2017
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
0.700 CausalMutation disease CLINVAR Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 28492532 2017
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
0.700 Biomarker disease CTD_human Dysfunction of the HERG channel can cause long QT syndrome type 2 (LQT2). 28768059 2017
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
0.700 CausalMutation disease CLINVAR Transmission distortion of disease-causing alleles in long QT syndrome (LQTS) has been reported, suggesting a potential role of KCNQ1 and KCNH2 in reproduction. 26669661 2017
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
0.700 GeneticVariation disease BEFREE Contribution of a KCNH2 variant in genotyped long QT syndrome: Romano-Ward syndrome under double mutations and acquired long QT syndrome under heterozygote. 27816319 2017
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.700 GeneticVariation disease BEFREE A Novel SCN5A Mutation Found in a Familial Case of Long QT Syndrome Complicated by Severe Left Ventricular Dysfunction. 28011106 2017
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.700 Biomarker disease BEFREE LQT3, which is the third most common LQTs, is due to gain-of-function mutations in SCN5A. 26713557 2017
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
0.700 GeneticVariation disease CLINVAR Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 28492532 2017
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
0.700 CausalMutation disease CLINVAR This study sought to investigate parental transmission in LQTS families according to ethnicity, gene loci (LQT1-3: KCNQ1, KCNH2, and SCN5A) or severity of channel dysfunction. 26669661 2017
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.700 GeneticVariation disease BEFREE Enhanced Classification of Brugada Syndrome-Associated and Long-QT Syndrome-Associated Genetic Variants in the SCN5A-Encoded Na(v)1.5 Cardiac Sodium Channel. 25904541 2016
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
0.700 GeneticVariation disease BEFREE Cells obtained from urine samples of a patient with long QT syndrome who harbored the HERG A561P gene mutation and his asymptomatic noncarrier mother were reprogrammed using the episomal-based method. 26330336 2016
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
0.700 GeneticVariation disease BEFREE We report here the generation of human iPS cell line UKKi009-A from dermal fibroblasts of a patient carrying heterozygous mutation c.3035-3045delTCCCTCGATGC, p.Leu1012Pro (fs*55) in KCNH2 gene leading to long QT syndrome type 2 (LQT2). 27345990 2016
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
0.700 AlteredExpression disease BEFREE Probucol is a cholesterol-lowering drug that could reduce hERG current by decreasing plasma membrane hERG protein expression and eventually cause long QT syndrome. 26229434 2016
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
0.700 GeneticVariation disease BEFREE Differences in myocardial function between subjects with LQT1 and subjects with LQT2 may indicate that mechanical alterations in LQTS are genotype specific. 25890583 2016
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
0.700 GeneticVariation disease BEFREE Mutations in the human ether‑à‑go‑go‑related gene (hERG) are responsible for long‑QT syndrome (LQTS) type 2 (LQT2). 26847485 2016
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
0.700 GeneticVariation disease BEFREE An Interdomain KCNH2 Mutation Produces an Intermediate Long QT Syndrome. 25914329 2016
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.700 Biomarker disease BEFREE SCN5A is a susceptibility gene for type 3 long QT syndrome, Brugada syndrome, and sudden infant death syndrome. 25923670 2016
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
0.700 GeneticVariation disease CLINVAR Exome Analyses of Long QT Syndrome Reveal Candidate Pathogenic Mutations in Calmodulin-Interacting Genes. 26132555 2016