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 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 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 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 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 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 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 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 GermlineCausalMutation disease ORPHANET Genotype- and phenotype-guided management of congenital long QT syndrome. 24093767 2013
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 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 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 In general, heterozygous mutations in KCNQ1 cause Romano-Ward syndrome (LQT1 only), while homozygous mutations cause JLNS (LQT1 and deafness). 12388934 2002
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		0.500 CausalMutation disease CLINVAR Jervell and Lange-Nielsen syndrome: a Norwegian perspective. 10704188 1999
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		0.500 CausalMutation disease CLINVAR KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome. 9386136 1997
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
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		0.500 CausalMutation disease CLINVAR Novel mutations in KvLQT1 that affect Iks activation through interactions with Isk. 10728423 2000
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 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 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 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 Properties of KvLQT1 K+ channel mutations in Romano-Ward and Jervell and Lange-Nielsen inherited cardiac arrhythmias. 9312006 1997
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 GeneticVariation disease BEFREE Recessive Romano-Ward syndrome associated with compound heterozygosity for two mutations in the KVLQT1 gene. 10482963 1999