Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation phenotype CLINVAR Molecular pathogenesis of long QT syndrome type 2. 27761161 2016
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation phenotype CLINVAR Genotype-dependent differences in age of manifestation and arrhythmia complications in short QT syndrome. 25974115 2015
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation phenotype CLINVAR Gain-of-function KCNH2 mutations in patients with Brugada syndrome. 24400717 2014
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation phenotype CLINVAR A novel mutation in the KCNH2 gene associated with short QT syndrome. 21130771 2011
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation phenotype 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
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation phenotype CLINVAR Long QT Syndrome. 18835466 2008
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation phenotype CLINVAR Prevalence of long-QT syndrome gene variants in sudden infant death syndrome. 17210839 2007
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation phenotype CLINVAR Short QT syndrome: clinical findings and diagnostic-therapeutic implications. 16926178 2006
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation phenotype CLINVAR Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. 16414944 2005
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation phenotype CLINVAR Short QT syndrome and atrial fibrillation caused by mutation in KCNH2. 15828882 2005
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation phenotype CLINVAR Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. 15840476 2005
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation phenotype CLINVAR Short QT Syndrome: a familial cause of sudden death. 12925462 2003
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation phenotype CLINVAR Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias. 11136691 2001
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation phenotype CLINVAR Novel KCNQ1 and HERG missense mutations in Dutch long-QT families. 10220144 1999