Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 GeneticVariation UNIPROT Tetrameric Assembly of K+ Channels Requires ER-Located Chaperone Proteins. 27916661

2017
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 GeneticVariation 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
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 GeneticVariation 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
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 GeneticVariation 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
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 GeneticVariation 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
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 GeneticVariation 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
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 GeneticVariation 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
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 GeneticVariation UNIPROT Compound mutations: a common cause of severe long-QT syndrome. 15051636

2004
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 GeneticVariation 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
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 GeneticVariation UNIPROT KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population. 12442276

2002
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 GeneticVariation 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
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 GeneticVariation 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
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 GeneticVariation 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
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 GeneticVariation UNIPROT Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. 10973849

2000
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 GeneticVariation 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
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 GeneticVariation 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
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 GeneticVariation UNIPROT The dominant negative LQT2 mutation A561V reduces wild-type HERG expression. 10753933

2000
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 GeneticVariation 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
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 GeneticVariation 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
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 GeneticVariation 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
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 GeneticVariation UNIPROT Novel KCNQ1 and HERG missense mutations in Dutch long-QT families. 10220144

1999
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 GeneticVariation 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
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 GeneticVariation UNIPROT Novel missense mutation (G601S) of HERG in a Japanese long QT syndrome family. 9452080

1998
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 GeneticVariation UNIPROT Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1. 9693036

1998
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 GeneticVariation UNIPROT Genomic organization and mutational analysis of HERG, a gene responsible for familial long QT syndrome. 9600240

1998