rs121912516, KCNH2

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Ventricular tachycardia, polymorphic
0.010 GeneticVariation BEFREE Here we investigated the repeated occurrence of fever-induced polymorphic ventricular tachycardia and ventricular fibrillation in 2 LQT-2 patients with A558P missense mutation in HERG. 18551196 2008
Ventricular Fibrillation
CUI: C0042510
Disease: Ventricular Fibrillation
0.010 GeneticVariation BEFREE Here we investigated the repeated occurrence of fever-induced polymorphic ventricular tachycardia and ventricular fibrillation in 2 LQT-2 patients with A558P missense mutation in HERG. 18551196 2008
Long Qt Syndrome 2
CUI: C3150943
Disease: Long Qt Syndrome 2
0.800 CausalMutation CLINVAR
Long Qt Syndrome 2
CUI: C3150943
Disease: Long Qt Syndrome 2
0.800 GeneticVariation UNIPROT Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. 10973849 2000
Long Qt Syndrome 2
CUI: C3150943
Disease: 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
Long Qt Syndrome 2
CUI: C3150943
Disease: Long Qt Syndrome 2
0.800 GeneticVariation UNIPROT The dominant negative LQT2 mutation A561V reduces wild-type HERG expression. 10753933 2000
Long Qt Syndrome 2
CUI: C3150943
Disease: Long Qt Syndrome 2
0.800 GeneticVariation UNIPROT Missense mutation in the pore region of HERG causes familial long QT syndrome. 8635257 1996
Long Qt Syndrome 2
CUI: C3150943
Disease: 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
Long Qt Syndrome 2
CUI: C3150943
Disease: 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
Long Qt Syndrome 2
CUI: C3150943
Disease: Long Qt Syndrome 2
0.800 GeneticVariation UNIPROT Novel missense mutation in the cyclic nucleotide-binding domain of HERG causes long QT syndrome. 8914737 1996
Long Qt Syndrome 2
CUI: C3150943
Disease: Long Qt Syndrome 2
0.800 GeneticVariation UNIPROT KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population. 12442276 2002
Long Qt Syndrome 2
CUI: C3150943
Disease: 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
Long Qt Syndrome 2
CUI: C3150943
Disease: 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
Long Qt Syndrome 2
CUI: C3150943
Disease: 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
Long Qt Syndrome 2
CUI: C3150943
Disease: Long Qt Syndrome 2
0.800 GeneticVariation UNIPROT Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1. 9693036 1998
Long Qt Syndrome 2
CUI: C3150943
Disease: Long Qt Syndrome 2
0.800 GeneticVariation UNIPROT Novel KCNQ1 and HERG missense mutations in Dutch long-QT families. 10220144 1999
Long Qt Syndrome 2
CUI: C3150943
Disease: 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
Long Qt Syndrome 2
CUI: C3150943
Disease: Long Qt Syndrome 2
0.800 GeneticVariation UNIPROT A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome. 7889573 1995
Long Qt Syndrome 2
CUI: C3150943
Disease: 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
Long Qt Syndrome 2
CUI: C3150943
Disease: 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
Long Qt Syndrome 2
CUI: C3150943
Disease: Long Qt Syndrome 2
0.800 GeneticVariation UNIPROT Novel missense mutation (G601S) of HERG in a Japanese long QT syndrome family. 9452080 1998
Long Qt Syndrome 2
CUI: C3150943
Disease: 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
Long Qt Syndrome 2
CUI: C3150943
Disease: Long Qt Syndrome 2
0.800 GeneticVariation UNIPROT Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome. 9024139 1997