Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
0.500 SusceptibilityMutation disease CLINVAR
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
0.500 GeneticVariation disease LHGDN "Molecular underpinning of ""good luck""." 16880338 2006
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
0.500 Biomarker disease CTD_human (-)-Epicatechin rescues the As2 O3 -induced HERG K+ channel deficiency possibly through upregulating transcription factor SP1 expression. 28768059 2017
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
0.500 Biomarker disease BEFREE (LQT2), SCN5A (LQT3), and KCNE1 (minK, LQT5)--have been identified in LQTS. 9511785 1998
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: 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: 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: 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: 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: 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: 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: 3757
Gene Symbol: KCNH2
KCNH2
0.500 GeneticVariation disease BEFREE HERG-F463L potassium channels linked to long QT syndrome reduce I(Kr) current by a trafficking-deficient mechanism. 19215240 2009
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
0.500 Biomarker disease CTD_human Human ether-a-go-go-related gene (hERG) channel inhibition by drugs is now recognized as a common reason for the acquired form of long QT syndrome. 19583963 2009
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
0.500 GeneticVariation disease BEFREE KCNH2 mutations cause type 2 long QT syndrome (LQT2), which increases the risk for life-threatening ventricular arrhythmias. 23546015 2013
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
0.500 Biomarker disease BEFREE HERG channel dysfunction in human long QT syndrome. Intracellular transport and functional defects. 9694858 1998
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
0.500 GeneticVariation disease BEFREE A KCNH2 branch point mutation causing aberrant splicing contributes to an explanation of genotype-negative long QT syndrome. 19187913 2009
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
0.500 CausalMutation disease CLINVAR A common single nucleotide polymorphism can exacerbate long-QT type 2 syndrome leading to sudden infant death. 20181576 2010
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
0.500 GeneticVariation disease BEFREE A method for automated dideoxy fingerprinting (ddF) using capillary array electrophoresis (CAE) was developed and the efficiency of the method was tested by analyzing 24 DNA samples with mutations in one of the genes KCNQ1 and KCNH2, which are involved in 50% of LQTS cases. 11668638 2001
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
0.500 GeneticVariation disease BEFREE A mutation in HERG associated with notched T waves in long QT syndrome. 8877771 1996
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
0.500 GeneticVariation disease BEFREE A new oral therapy for long QT syndrome: long-term oral potassium improves repolarization in patients with HERG mutations. 14642687 2003
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
0.500 GeneticVariation disease BEFREE A novel deletion-frameshift mutation in the S1 region of HERG gene in a Chinese family with long QT syndrome. 23981618 2013
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
0.500 GeneticVariation disease BEFREE A novel mutation (T65P) in the PAS domain of the human potassium channel HERG results in the long QT syndrome by trafficking deficiency. 12354768 2002
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
0.500 GeneticVariation disease BEFREE A novel mutation in human ether-a-go-go-related gene, alanine to proline at position 490, found in a large family with autosomal dominant long QT syndrome. 17560885 2007