Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation CLINVAR Molecular pathogenesis of long QT syndrome type 2. 27761161

2016

Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation CLINVAR Genotype-dependent differences in age of manifestation and arrhythmia complications in short QT syndrome. 25974115

2015

Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation CLINVAR Gain-of-function KCNH2 mutations in patients with Brugada syndrome. 24400717

2014

Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation CLINVAR A novel mutation in the KCNH2 gene associated with short QT syndrome. 21130771

2011

Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 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

Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation CLINVAR Long QT Syndrome. 18835466

2008

Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation CLINVAR Prevalence of long-QT syndrome gene variants in sudden infant death syndrome. 17210839

2007

Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation CLINVAR Short QT syndrome: clinical findings and diagnostic-therapeutic implications. 16926178

2006

Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation CLINVAR Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. 16414944

2005

Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation CLINVAR Short QT syndrome and atrial fibrillation caused by mutation in KCNH2. 15828882

2005

Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation CLINVAR Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. 15840476

2005

Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation CLINVAR Short QT Syndrome: a familial cause of sudden death. 12925462

2003

Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation CLINVAR Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias. 11136691

2001

Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation CLINVAR Novel KCNQ1 and HERG missense mutations in Dutch long-QT families. 10220144

1999