rs773724817, 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 CausalMutation CLINVAR KCNH2 gene mutation: a potential link between epilepsy and long QT-2 syndrome. 22515331 2012
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
0.710 CausalMutation CLINVAR Aminoglycoside antibiotics restore functional expression of truncated HERG channels produced by nonsense mutations. 19324319 2009
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
0.710 CausalMutation CLINVAR Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. 15840476 2005
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
0.710 CausalMutation CLINVAR These data suggest that R863X failed to form functional HERG channels, contributing to a prolongation of the QT interval and long QT syndrome with a dominant phenotype. 14714110 2004
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
0.710 GeneticVariation BEFREE These data suggest that R863X failed to form functional HERG channels, contributing to a prolongation of the QT interval and long QT syndrome with a dominant phenotype. 14714110 2004
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
0.710 CausalMutation CLINVAR The use of genotype-phenotype correlations in mutation analysis for the long QT syndrome. 12566525 2003
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 CausalMutation CLINVAR Molecular pathogenesis of long QT syndrome type 2. 27761161 2016
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 CausalMutation CLINVAR Genotype-dependent differences in age of manifestation and arrhythmia complications in short QT syndrome. 25974115 2015
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 CausalMutation CLINVAR Gain-of-function KCNH2 mutations in patients with Brugada syndrome. 24400717 2014
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 CausalMutation CLINVAR A novel mutation in the KCNH2 gene associated with short QT syndrome. 21130771 2011
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 CausalMutation CLINVAR Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. 19716085 2009
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 CausalMutation CLINVAR Long QT Syndrome. 18835466 2008
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 CausalMutation CLINVAR Prevalence of long-QT syndrome gene variants in sudden infant death syndrome. 17210839 2007
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 CausalMutation CLINVAR Short QT syndrome: clinical findings and diagnostic-therapeutic implications. 16926178 2006
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 CausalMutation CLINVAR Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. 16414944 2005
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 CausalMutation CLINVAR Short QT syndrome and atrial fibrillation caused by mutation in KCNH2. 15828882 2005
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 CausalMutation CLINVAR Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. 15840476 2005
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 CausalMutation CLINVAR Short QT Syndrome: a familial cause of sudden death. 12925462 2003
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 CausalMutation CLINVAR Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias. 11136691 2001
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 CausalMutation CLINVAR Novel KCNQ1 and HERG missense mutations in Dutch long-QT families. 10220144 1999
Epilepsy
CUI: C0014544
Disease: Epilepsy
0.010 GeneticVariation BEFREE R863X alteration in HERG channel may be involved in both prolonged QTc interval and epilepsy. 22515331 2012
Cardiac Arrhythmia
CUI: C0003811
Disease: Cardiac Arrhythmia
0.010 GeneticVariation BEFREE This fact raises the possibility that R863X alteration in KCNH2-encoded potassium channel may confer susceptibility for epilepsy and cardiac LQT-2 arrhythmia. 22515331 2012