rs773724817, KCNH2

N. diseases: 4
Disease: Overgrowth ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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