Gene: KCNQ1 ×
Source: UNIPROT ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		1.000 GeneticVariation disease UNIPROT Cellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano-Ward syndrome. 25705178 2015
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		1.000 GeneticVariation disease UNIPROT A molecular mechanism for adrenergic-induced long QT syndrome. 24184248 2014
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		1.000 GeneticVariation disease UNIPROT Long QT mutations at the interface between KCNQ1 helix C and KCNE1 disrupt I(KS) regulation by PKA and PIP₂. 25037568 2014
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		1.000 GeneticVariation disease UNIPROT Mutations in KCNQ1, encoding for Kv7.1, the α-subunit of the IKs channel, cause long-QT syndrome type 1, potentially predisposing patients to ventricular tachyarrhythmias and sudden cardiac death, in particular, during elevated sympathetic tone. 25139741 2014
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		1.000 GeneticVariation disease UNIPROT We identified a multigenerational LQT1 family whereby 79% of the patients genotype-positive for p.Ile235Asn-KCNQ1 (I235N-Kv7.1) have concealed LQT1. 24269949 2014
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		1.000 GeneticVariation disease UNIPROT A590T mutation in KCNQ1 C-terminal helix D decreases IKs channel trafficking and function but not Yotiao interaction. 24713462 2014
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		1.000 GeneticVariation disease UNIPROT Biophysical properties of mutant KCNQ1 S277L channels linked to hereditary long QT syndrome with phenotypic variability. 21241800 2011
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		1.000 GeneticVariation disease UNIPROT Biophysical characterization of KCNQ1 P320 mutations linked to long QT syndrome 1. 19540844 2010
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		1.000 GeneticVariation disease UNIPROT 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 		1.000 GeneticVariation disease UNIPROT Biophysical properties of 9 KCNQ1 mutations associated with long-QT syndrome. 19808498 2009
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		1.000 GeneticVariation disease UNIPROT 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 		1.000 GeneticVariation disease UNIPROT The KCNQ1 (Kv7.1) COOH terminus, a multitiered scaffold for subunit assembly and protein interaction. 18165683 2008
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		1.000 GeneticVariation disease UNIPROT Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome. 16922724 2006
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		1.000 GeneticVariation disease UNIPROT Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. 16414944 2005
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		1.000 GeneticVariation disease UNIPROT 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 		1.000 GeneticVariation disease UNIPROT Requirement of a macromolecular signaling complex for beta adrenergic receptor modulation of the KCNQ1-KCNE1 potassium channel. 11799244 2002
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		1.000 GeneticVariation disease UNIPROT KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population. 12442276 2002
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		1.000 GeneticVariation disease UNIPROT Novel mutations in KvLQT1 that affect Iks activation through interactions with Isk. 10728423 2000
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		1.000 GeneticVariation disease UNIPROT Five genes have been implicated in Romano-Ward syndrome, the autosomal dominant form of LQTS: KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. 10973849 2000
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		1.000 GeneticVariation disease UNIPROT Novel KCNQ1 and HERG missense mutations in Dutch long-QT families. 10220144 1999
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		1.000 GeneticVariation disease UNIPROT Recessive Romano-Ward syndrome associated with compound heterozygosity for two mutations in the KVLQT1 gene. 10482963 1999
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		1.000 GeneticVariation disease UNIPROT [Congenital long QT syndrome. The value of genetics in prognostic evaluation]. 10367071 1999
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		1.000 GeneticVariation disease UNIPROT Low penetrance in the long-QT syndrome: clinical impact. 9927399 1999
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		1.000 GeneticVariation disease UNIPROT High-throughput single-strand conformation polymorphism analysis by automated capillary electrophoresis: robust multiplex analysis and pattern-based identification of allelic variants. 10220146 1999
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		1.000 GeneticVariation disease UNIPROT Long QT syndrome-associated mutations in the S4-S5 linker of KvLQT1 potassium channels modify gating and interaction with minK subunits. 10409658 1999