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 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 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 GeneticVariation disease BEFREE Recessive Romano-Ward syndrome associated with compound heterozygosity for two mutations in the KVLQT1 gene. 10482963 1999
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		0.500 CausalMutation disease CLINVAR Swimming, a gene-specific arrhythmogenic trigger for inherited long QT syndrome. 10560595 1999
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		0.500 CausalMutation disease CLINVAR Recessive Romano-Ward syndrome associated with compound heterozygosity for two mutations in the KVLQT1 gene. 10482963 1999
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 Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. 10973849 2000
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 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 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 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 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 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 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 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 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 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 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