Source: UNIPROT

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 Genomic organization and mutational analysis of KVLQT1, a gene responsible for familial long QT syndrome. 9799083

1998
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		1.000 GeneticVariation UNIPROT New mutations in the KVLQT1 potassium channel that cause long-QT syndrome. 9570196

1998
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 Pathophysiological mechanisms of dominant and recessive KVLQT1 K+ channel mutations found in inherited cardiac arrhythmias. 9302275

1997
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 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
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		1.000 GeneticVariation UNIPROT Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome. 9024139

1997
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 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 Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. 8528244

1996
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		1.000 GeneticVariation UNIPROT Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1. 9693036

1998
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 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 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
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		1.000 GeneticVariation UNIPROT Dominant-negative KvLQT1 mutations underlie the LQT1 form of long QT syndrome. 9323054

1997
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 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 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
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 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 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 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 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
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