Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10984
Gene Symbol: KCNQ1OT1
KCNQ1OT1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.110 CausalMutation CLINVAR Stop-codon and C-terminal nonsense mutations are associated with a lower risk of cardiac events in patients with long QT syndrome type 1. 26318259

2016
Entrez Id: 10984
Gene Symbol: KCNQ1OT1
KCNQ1OT1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.110 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
Entrez Id: 10984
Gene Symbol: KCNQ1OT1
KCNQ1OT1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.110 CausalMutation CLINVAR Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. 23631430

2013
Entrez Id: 10984
Gene Symbol: KCNQ1OT1
KCNQ1OT1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.110 GeneticVariation CLINVAR The genetic basis of long QT and short QT syndromes: a mutation update. 19862833

2009
Entrez Id: 10984
Gene Symbol: KCNQ1OT1
KCNQ1OT1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.110 CausalMutation CLINVAR Long QT and Brugada syndrome gene mutations in New Zealand. 17905336

2007
Entrez Id: 10984
Gene Symbol: KCNQ1OT1
KCNQ1OT1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.110 GeneticVariation CLINVAR Long QT and Brugada syndrome gene mutations in New Zealand. 17905336

2007
Entrez Id: 10984
Gene Symbol: KCNQ1OT1
KCNQ1OT1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.110 GeneticVariation CLINVAR Dominant-negative KvLQT1 mutations underlie the LQT1 form of long QT syndrome. 9323054

1997