Gene: KCNH2 ×
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 Biomarker disease BEFREE Based on accepted clinical criteria, 21 subjects (70%; 9 KCNQ1, 5 KCNH2, 2 SCN5A, 2 other, 3 untested) had LQTS. 24218437 2013
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2 		0.500 Biomarker disease CTD_human Block of the human ether-a-go-go-related gene (hERG) K+ channel by the antidepressant desipramine. 20211602 2010
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2 		0.500 CausalMutation disease CLINVAR Bradycardia-induced long QT syndrome caused by a de novo missense mutation in the S2-S3 inner loop of HERG. 11170080 2001
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2 		0.500 CausalMutation disease CLINVAR C-terminal HERG mutations: the role of hypokalemia and a KCNQ1-associated mutation in cardiac event occurrence. 10086971 1999
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2 		0.500 CausalMutation disease CLINVAR Cardiac ion channel gene mutations in Greek long QT syndrome patients. 21063070 2010
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2 		0.500 CausalMutation disease CLINVAR Catecholamine-provoked microvoltage T wave alternans in genotyped long QT syndrome. 12877697 2003
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2 		0.500 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 2015
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2 		0.500 GeneticVariation disease BEFREE Cellular consequences of HERG mutations in the long QT syndrome: precursors to sudden cardiac death. 11334834 2001
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2 		0.500 GeneticVariation disease BEFREE Cellular properties of C-terminal KCNH2 long QT syndrome mutations: description and divergence from clinical phenotypes. 18675227 2008
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2 		0.500 Biomarker disease CTD_human Changes in channel trafficking and protein stability caused by LQT2 mutations in the PAS domain of the HERG channel. 22396785 2012
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2 		0.500 GeneticVariation disease CLINVAR Changes in channel trafficking and protein stability caused by LQT2 mutations in the PAS domain of the HERG channel. 22396785 2012
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2 		0.500 GeneticVariation disease BEFREE Characterization of a novel missense mutation E637K in the pore-S6 loop of HERG in a patient with long QT syndrome. 12062363 2002
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2 		0.500 CausalMutation disease CLINVAR Characterization of a novel missense mutation E637K in the pore-S6 loop of HERG in a patient with long QT syndrome. 12062363 2002
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2 		0.500 GeneticVariation disease BEFREE Characterization of a novel missense mutation in the pore of HERG in a patient with long QT syndrome. 10517660 1999
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2 		0.500 GeneticVariation disease BEFREE Characterization of novel KCNH2 mutations in type 2 long QT syndrome manifesting as seizures. 19668779 2009
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2 		0.500 CausalMutation disease CLINVAR Characterization of S818L mutation in HERG C-terminus in LQT2. Modification of activation-deactivation gating properties. 10996323 2000
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2 		0.500 GeneticVariation disease BEFREE Chromosome 7-linked LQTS (LQT2) has been correlated with mutations in the human ether-a-go-go-related gene (HERG). 12185453 2002
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2 		0.500 GeneticVariation disease BEFREE Chromosome 7-linked inherited LQTS (LQT2) is caused by mutations in human ether-a-go-go-related gene (HERG; KCNH2), whereas drug-induced LQTS is caused primarily by HERG channel block. 14975928 2004
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2 		0.500 CausalMutation disease CLINVAR Clinical characteristics and genetic background of congenital long-QT syndrome diagnosed in fetal, neonatal, and infantile life: a nationwide questionnaire survey in Japan. 19996378 2010
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2 		0.500 CausalMutation disease CLINVAR Clinical, genetic, and biophysical characterization of a homozygous HERG mutation causing severe neonatal long QT syndrome. 12621127 2003
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2 		0.500 CausalMutation disease CLINVAR Common Genotypes of Long QT Syndrome in China and the Role of ECG Prediction. 26496715 2016
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2 		0.500 GeneticVariation disease BEFREE Comparison of read-through effects of aminoglycosides and PTC124 on rescuing nonsense mutations of HERG gene associated with long QT syndrome. 24366185 2014
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2 		0.500 CausalMutation disease CLINVAR Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. 15840476 2005
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2 		0.500 GeneticVariation disease CLINVAR Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. 15840476 2005
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2 		0.500 CausalMutation disease CLINVAR Complexities of 5'splice site definition: implications in clinical analyses. 22617876 2012