rs121912507, KCNH2

N. diseases: 4
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
0.710 GeneticVariation BEFREE Isoform-specific dominant-negative effects associated with hERG1 G628S mutation in long QT syndrome. 22876326 2012
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
0.710 CausalMutation CLINVAR Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome. 16922724 2006
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
0.710 CausalMutation CLINVAR Genotype-specific onset of arrhythmias in congenital long-QT syndrome: possible therapy implications. 17088455 2006
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
0.710 CausalMutation CLINVAR Long QT syndrome in neonates: conduction disorders associated with HERG mutations and sinus bradycardia with KCNQ1 mutations. 14998624 2004
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
0.710 CausalMutation CLINVAR HERG channel dysfunction in human long QT syndrome. Intracellular transport and functional defects. 9694858 1998
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
0.710 CausalMutation CLINVAR Spectrum of HERG K+-channel dysfunction in an inherited cardiac arrhythmia. 8700910 1996
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
0.710 CausalMutation CLINVAR A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome. 7889573 1995
Atrial Fibrillation
CUI: C0004238
Disease: Atrial Fibrillation
0.020 GeneticVariation BEFREE Domestic pigs received AdKCNH2-G628S by epicardial atrial gene painting and atrial pacemaker implantation for continuous-burst pacing to induce atrial fibrillation. 28676183 2017
Atrial Fibrillation
CUI: C0004238
Disease: Atrial Fibrillation
0.020 GeneticVariation BEFREE Gene therapy with KCNH2-G628S eliminated AF by prolonging atrial action potential duration. 20479154 2010
Cardiac Arrhythmia
CUI: C0003811
Disease: Cardiac Arrhythmia
0.010 GeneticVariation BEFREE In this review, we present a model of postinfarct ventricular tachycardia, a method for gene delivery to this area, and results of KCNH2-G628S gene transfer to manipulate cellular refractory properties in the arrhythmia model. 17993320 2008