Gene: KCNQ1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		0.100 GeneticVariation phenotype CLINVAR Identification and characterization of a novel recessive KCNQ1 mutation associated with Romano-Ward Long-QT syndrome in two Iranian families. 29033053 2018
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		0.100 CausalMutation phenotype CLINVAR Novel frameshift mutation in the KCNQ1 gene responsible for Jervell and Lange-Nielsen syndrome. 29372044 2018
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		0.100 CausalMutation phenotype CLINVAR A novel KCNQ1 nonsense variant in the isoform-specific first exon causes both jervell and Lange-Nielsen syndrome 1 and long QT syndrome 1: a case report. 28595573 2017
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		0.100 GeneticVariation phenotype CLINVAR Molecular pathogenesis of long QT syndrome type 1. 27761162 2016
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		0.100 CausalMutation phenotype CLINVAR Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction. 26669661 2016
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		0.100 GeneticVariation phenotype CLINVAR Genetic analysis, in silico prediction, and family segregation in long QT syndrome. 24667783 2015
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		0.100 CausalMutation phenotype CLINVAR Mutations in cytoplasmic loops of the KCNQ1 channel and the risk of life-threatening events: implications for mutation-specific response to β-blocker therapy in type 1 long-QT syndrome. 22456477 2012
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		0.100 CausalMutation phenotype CLINVAR PKA and PKC partially rescue long QT type 1 phenotype by restoring channel-PIP2 interactions. 19934648 2010
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		0.100 GeneticVariation 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
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		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
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		0.100 CausalMutation phenotype CLINVAR Kv7.1 (KCNQ1) properties and channelopathies. 18174212 2008
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		0.100 GeneticVariation phenotype CLINVAR The role of S4 charges in voltage-dependent and voltage-independent KCNQ1 potassium channel complexes. 17227916 2007
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		0.100 GeneticVariation phenotype CLINVAR Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. 15840476 2005
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		0.100 CausalMutation phenotype CLINVAR Impaired KCNQ1-KCNE1 and phosphatidylinositol-4,5-bisphosphate interaction underlies the long QT syndrome. 15746441 2005
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		0.100 CausalMutation phenotype CLINVAR Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. 15840476 2005
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		0.100 CausalMutation phenotype CLINVAR Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients. 14760488 2004
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		0.100 CausalMutation phenotype CLINVAR Catecholamine-provoked microvoltage T wave alternans in genotyped long QT syndrome. 12877697 2003
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		0.100 CausalMutation phenotype CLINVAR KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome. 9386136 1997
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		0.100 Biomarker phenotype HPO