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 		0.500 GeneticVariation disease BEFREE According to previous KCNQ1 (potassium channel, voltage gated, KQT-like subfamily, member 1) gene screening studies, missense variants, but not nonsense or frame-shift variants, cause the majority of long QT syndrome (LQTS; Romano-Ward syndrome [RWS]) 1 cases. 28595573 2017
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		0.500 GeneticVariation disease BEFREE KCNQ1 mutations associated with Jervell and Lange-Nielsen syndrome and autosomal recessive Romano-Ward syndrome in India-expanding the spectrum of long QT syndrome type 1. 27041150 2016
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		0.500 CausalMutation disease CLINVAR Screen-based identification and validation of four new ion channels as regulators of renal ciliogenesis. 26546361 2015
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		0.500 CausalMutation disease CLINVAR Cellular mechanisms underlying the increased disease severity seen for patients with long QT syndrome caused by compound mutations in KCNQ1. 24912595 2014
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		0.500 CausalMutation disease CLINVAR Phenotype, origin and estimated prevalence of a common long QT syndrome mutation: a clinical, genealogical and molecular genetics study including Swedish R518X/KCNQ1 families. 24552659 2014
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		0.500 GermlineCausalMutation disease ORPHANET Genotype- and phenotype-guided management of congenital long QT syndrome. 24093767 2013
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		0.500 CausalMutation disease CLINVAR Prevalence and potential genetic determinants of sensorineural deafness in KCNQ1 homozygosity and compound heterozygosity. 23392653 2013
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		0.500 CausalMutation disease CLINVAR Readthrough of long-QT syndrome type 1 nonsense mutations rescues function but alters the biophysical properties of the channel. 22309168 2012
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		0.500 CausalMutation disease CLINVAR End-recovery QTc: a useful metric for assessing genetic variants of unknown significance in long-QT syndrome. 22429796 2012
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		0.500 CausalMutation disease CLINVAR Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing. 23098067 2012
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		0.500 CausalMutation disease CLINVAR Prevalence, mutation spectrum, and cardiac phenotype of the Jervell and Lange-Nielsen syndrome in Sweden. 22539601 2012
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		0.500 CausalMutation disease CLINVAR Recurrent and Founder Mutations in the Netherlands: the Long-QT Syndrome. 21350584 2011
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		0.500 CausalMutation disease 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 		0.500 GeneticVariation disease BEFREE Romano-Ward syndrome (RWs) and Jervell and Lange-Nielsen Syndrome (JLNs) are two inherited arrhythmia disorders caused by monoallelic or bi-allelic mutations, respectively, in the KCNQ1 or KCNE1 genes. 19027783 2009
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		0.500 GeneticVariation disease 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 		0.500 GeneticVariation disease LHGDN Identification of a novel KCNQ1 mutation associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long QT syndrome in a Chinese family. 18400097 2008
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		0.500 GeneticVariation disease BEFREE The homozygous KCNQ1 gene mutation associated with recessive Romano-Ward syndrome. 16981927 2006
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		0.500 Biomarker disease BEFREE We prospectively followed-up 44 JLNS patients from the U.S. portion of the International LQTS Registry and compared their clinical course with 2,174 patients with the phenotypically determined dominant form of LQTS (Romano-Ward syndrome [RWS]) and a subgroup of 285 patients with type 1 LQTS (LQT1). 16911578 2006
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		0.500 Biomarker disease BEFREE Dominant-negative I(Ks) suppression by KCNQ1-deltaF339 potassium channels linked to Romano-Ward syndrome. 15950200 2005
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		0.500 GeneticVariation disease 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 		0.500 CausalMutation disease 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 		0.500 GeneticVariation disease LHGDN Identification and characterisation of a novel KCNQ1 mutation in a family with Romano-Ward syndrome. 15511625 2004
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		0.500 GeneticVariation disease CLINVAR Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes. 15466642 2004
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		0.500 GeneticVariation disease BEFREE Identification and characterisation of a novel KCNQ1 mutation in a family with Romano-Ward syndrome. 15511625 2004
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		0.500 CausalMutation disease CLINVAR Novel compound heterozygous mutations in the KCNQ1 gene associated with autosomal recessive long QT syndrome (Jervell and Lange-Nielsen syndrome). 14510661 2003