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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 [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 Low penetrance in the long-QT syndrome: clinical impact. 9927399 1999
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 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 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 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 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 Requirement of a macromolecular signaling complex for beta adrenergic receptor modulation of the KCNQ1-KCNE1 potassium channel. 11799244 2002