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 A molecular mechanism for adrenergic-induced long QT syndrome. 24184248 2014
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		1.000 GeneticVariation disease UNIPROT A novel mutation in KVLQT1 is the molecular basis of inherited long QT syndrome in a near-drowning patient's family. 9702906 1998
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 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 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 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 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 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 Dominant-negative KvLQT1 mutations underlie the LQT1 form of long QT syndrome. 9323054 1997
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		1.000 GeneticVariation disease UNIPROT Evidence of a long QT founder gene with varying phenotypic expression in South African families. 8818942 1996
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 Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome. 9024139 1997
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 Genomic organization and mutational analysis of KVLQT1, a gene responsible for familial long QT syndrome. 9799083 1998
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		1.000 GeneticVariation disease UNIPROT Genomic organization of the KCNQ1 K+ channel gene and identification of C-terminal mutations in the long-QT syndrome. 10024302 1999
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		1.000 GeneticVariation disease UNIPROT Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1. 9693036 1998
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 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 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 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 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 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 Low penetrance in the long-QT syndrome: clinical impact. 9927399 1999
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 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