rs773724817, KCNH2

N. diseases: 4
Disease: Long QT Syndrome ×
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