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 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 Evidence of a long QT founder gene with varying phenotypic expression in South African families. 8818942

1996
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		1.000 GeneticVariation UNIPROT KVLQT1 mutations in three families with familial or sporadic long QT syndrome. 8872472

1996
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 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 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 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 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 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
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 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 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 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 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
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
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		1.000 GeneticVariation 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
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 Requirement of a macromolecular signaling complex for beta adrenergic receptor modulation of the KCNQ1-KCNE1 potassium channel. 11799244

2002