Gene: KCNH2 ×
Source: UNIPROT ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2 		0.800 GeneticVariation disease UNIPROT Tetrameric Assembly of K+ Channels Requires ER-Located Chaperone Proteins. 27916661 2017
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2 		0.800 GeneticVariation disease UNIPROT Identification and functional characterization of the novel human ether-a-go-go-related gene (hERG) R744P mutant associated with hereditary long QT syndrome 2. 22314138 2012
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2 		0.800 GeneticVariation disease UNIPROT Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. 19716085 2009
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2 		0.800 GeneticVariation disease UNIPROT Mechanisms of pharmacological rescue of trafficking-defective hERG mutant channels in human long QT syndrome. 16361248 2006
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2 		0.800 GeneticVariation disease UNIPROT Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome. 16922724 2006
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2 		0.800 GeneticVariation disease UNIPROT 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 		0.800 GeneticVariation disease UNIPROT Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. 16414944 2005
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2 		0.800 GeneticVariation disease UNIPROT Compound mutations: a common cause of severe long-QT syndrome. 15051636 2004
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2 		0.800 GeneticVariation disease UNIPROT 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 		0.800 GeneticVariation disease UNIPROT KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population. 12442276 2002
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2 		0.800 GeneticVariation disease UNIPROT 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 		0.800 GeneticVariation disease UNIPROT 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 		0.800 GeneticVariation disease UNIPROT 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 		0.800 GeneticVariation disease UNIPROT Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. 10973849 2000
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2 		0.800 GeneticVariation disease UNIPROT 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 		0.800 GeneticVariation disease UNIPROT Survey of the coding region of the HERG gene in long QT syndrome reveals six novel mutations and an amino acid polymorphism with possible phenotypic effects. 10862094 2000
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2 		0.800 GeneticVariation disease UNIPROT The dominant negative LQT2 mutation A561V reduces wild-type HERG expression. 10753933 2000
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2 		0.800 GeneticVariation disease UNIPROT 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 		0.800 GeneticVariation disease UNIPROT 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 		0.800 GeneticVariation disease UNIPROT Long QT syndrome-associated mutations in the Per-Arnt-Sim (PAS) domain of HERG potassium channels accelerate channel deactivation. 10187793 1999
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2 		0.800 GeneticVariation disease UNIPROT Novel KCNQ1 and HERG missense mutations in Dutch long-QT families. 10220144 1999
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2 		0.800 GeneticVariation disease UNIPROT Multiple different missense mutations in the pore region of HERG in patients with long QT syndrome. 9544837 1998
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2 		0.800 GeneticVariation disease UNIPROT Novel missense mutation (G601S) of HERG in a Japanese long QT syndrome family. 9452080 1998
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2 		0.800 GeneticVariation disease UNIPROT Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1. 9693036 1998
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2 		0.800 GeneticVariation disease UNIPROT Genomic organization and mutational analysis of HERG, a gene responsible for familial long QT syndrome. 9600240 1998