Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10984
Gene Symbol: KCNQ1OT1
KCNQ1OT1
0.110 AlteredExpression disease BEFREE After ATO treatment, the Kcnq1ot1 and Kcnq1 expression levels were down regulated. lncRNA Kcnq1ot1 knockdown prolonged the action potential duration (APD) in vitro and exerted LQTS in vivo. 29339628 2018
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