Gene: KCNQ1OT1 ×
Source: CLINVAR ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10984
Gene Symbol: KCNQ1OT1
KCNQ1OT1 		0.110 CausalMutation disease 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 		0.110 CausalMutation disease 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 		0.110 CausalMutation disease 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 		0.110 GeneticVariation disease CLINVAR The genetic basis of long QT and short QT syndromes: a mutation update. 19862833 2009
Entrez Id: 10984
Gene Symbol: KCNQ1OT1
KCNQ1OT1 		0.110 CausalMutation disease CLINVAR Long QT and Brugada syndrome gene mutations in New Zealand. 17905336 2007
Entrez Id: 10984
Gene Symbol: KCNQ1OT1
KCNQ1OT1 		0.110 GeneticVariation disease CLINVAR Long QT and Brugada syndrome gene mutations in New Zealand. 17905336 2007
Entrez Id: 10984
Gene Symbol: KCNQ1OT1
KCNQ1OT1 		0.110 GeneticVariation disease CLINVAR Dominant-negative KvLQT1 mutations underlie the LQT1 form of long QT syndrome. 9323054 1997