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 [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 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 The long QT syndrome: a novel missense mutation in the S6 region of the KVLQT1 gene. 9272155 1997
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 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 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 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 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 		1.000 GeneticVariation disease UNIPROT Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. 8528244 1996
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		1.000 GeneticVariation disease UNIPROT Pathophysiological mechanisms of dominant and recessive KVLQT1 K+ channel mutations found in inherited cardiac arrhythmias. 9302275 1997
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		1.000 GeneticVariation disease UNIPROT Our data show a wide KVLQT1 allelic heterogeneity among 20 families in which KVLQT1 causes RWS. 9386136 1997
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 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 New mutations in the KVLQT1 potassium channel that cause long-QT syndrome. 9570196 1998
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		1.000 GeneticVariation disease UNIPROT Mutations of the KVLQT1 gene, a cardiac potassium channel, generate two allelic diseases: the Romano-Ward syndrome, inherited as a dominant trait, and the Jervell and Lange-Nielsen syndrome, inherited as an autosomal recessive trait. 9641694 1998
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 Molecular genetics of the long QT syndrome: two novel mutations of the KVLQT1 gene and phenotypic expression of the mutant gene in a large kindred. 9482580 1998
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 Long QT syndrome-associated mutations in the S4-S5 linker of KvLQT1 potassium channels modify gating and interaction with minK subunits. 10409658 1999
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 KVLQT1 mutations in three families with familial or sporadic long QT syndrome. 8872472 1996
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 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 High-throughput single-strand conformation polymorphism analysis by automated capillary electrophoresis: robust multiplex analysis and pattern-based identification of allelic variants. 10220146 1999