Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1
1.000 GeneticVariation 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
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1
1.000 GeneticVariation UNIPROT A molecular mechanism for adrenergic-induced long QT syndrome. 24184248

2014

Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1
1.000 GeneticVariation 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
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1
1.000 GeneticVariation 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
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1
1.000 GeneticVariation 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
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1
1.000 GeneticVariation 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
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1
1.000 GeneticVariation 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
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1
1.000 GeneticVariation UNIPROT Biophysical characterization of KCNQ1 P320 mutations linked to long QT syndrome 1. 19540844

2010

Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1
1.000 GeneticVariation 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
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1
1.000 GeneticVariation UNIPROT Biophysical properties of 9 KCNQ1 mutations associated with long-QT syndrome. 19808498

2009

Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1
1.000 GeneticVariation 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
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1
1.000 GeneticVariation 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
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1
1.000 GeneticVariation 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
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1
1.000 GeneticVariation 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
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1
1.000 GeneticVariation 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
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1
1.000 GeneticVariation 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
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1
1.000 GeneticVariation UNIPROT KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population. 12442276

2002

Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1
1.000 GeneticVariation UNIPROT Novel mutations in KvLQT1 that affect Iks activation through interactions with Isk. 10728423

2000

Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1
1.000 GeneticVariation 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
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1
1.000 GeneticVariation UNIPROT Novel KCNQ1 and HERG missense mutations in Dutch long-QT families. 10220144

1999

Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1
1.000 GeneticVariation 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
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1
1.000 GeneticVariation UNIPROT [Congenital long QT syndrome. The value of genetics in prognostic evaluation]. 10367071

1999

Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1
1.000 GeneticVariation UNIPROT Low penetrance in the long-QT syndrome: clinical impact. 9927399

1999

Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1
1.000 GeneticVariation 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
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1
1.000 GeneticVariation UNIPROT Long QT syndrome-associated mutations in the S4-S5 linker of KvLQT1 potassium channels modify gating and interaction with minK subunits. 10409658

1999