Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 GeneticVariation CLINVAR Exome sequencing implicates an increased burden of rare potassium channel variants in the risk of drug-induced long QT interval syndrome. 24561134

2014
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 SusceptibilityMutation CLINVAR Instability of KCNE1-D85N that causes long QT syndrome: stabilization by verapamil. 24499369

2014
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 GeneticVariation CLINVAR Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2. 24606995

2014
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 CausalMutation CLINVAR Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2. 24606995

2014
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 CausalMutation CLINVAR Exome sequencing implicates an increased burden of rare potassium channel variants in the risk of drug-induced long QT interval syndrome. 24561134

2014
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 GeneticVariation CLINVAR Modification by KCNE1 variants of the hERG potassium channel response to premature stimulation and to pharmacological inhibition. 24400172

2013
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 CausalMutation CLINVAR Modification by KCNE1 variants of the hERG potassium channel response to premature stimulation and to pharmacological inhibition. 24400172

2013
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 CausalMutation CLINVAR 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: 3753
Gene Symbol: KCNE1
KCNE1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 GeneticVariation CLINVAR 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: 3753
Gene Symbol: KCNE1
KCNE1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 SusceptibilityMutation CLINVAR D85N, a KCNE1 polymorphism, is a disease-causing gene variant in long QT syndrome. 19695459

2009
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 SusceptibilityMutation CLINVAR Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients. 14760488

2004
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 SusceptibilityMutation CLINVAR Compound mutations: a common cause of severe long-QT syndrome. 15051636

2004
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 CausalMutation CLINVAR Requirement of subunit expression for cAMP-mediated regulation of a heart potassium channel. 12566567

2003
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 SusceptibilityMutation CLINVAR Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome. 14661677

2003
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 CausalMutation CLINVAR Disease-associated mutations in KCNE potassium channel subunits (MiRPs) reveal promiscuous disruption of multiple currents and conservation of mechanism. 11874988

2002
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 SusceptibilityMutation CLINVAR Twenty single nucleotide polymorphisms (SNPs) and their allelic frequencies in four genes that are responsible for familial long QT syndrome in the Japanese population. 10807545

2000
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 CausalMutation CLINVAR Cellular dysfunction of LQT5-minK mutants: abnormalities of IKs, IKr and trafficking in long QT syndrome. 10400998

1999
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 CausalMutation CLINVAR Stilbenes and fenamates rescue the loss of I(KS) channel function induced by an LQT5 mutation and other IsK mutants. 10428953

1999
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 GeneticVariation CLINVAR Mutation of the gene for IsK associated with both Jervell and Lange-Nielsen and Romano-Ward forms of Long-QT syndrome. 9445165

1998
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 CausalMutation CLINVAR Mutation of the gene for IsK associated with both Jervell and Lange-Nielsen and Romano-Ward forms of Long-QT syndrome. 9445165

1998
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 CausalMutation CLINVAR Here, we define KCNE1 missense mutations in affected members of two LQT families. 9354802

1997
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 CausalMutation CLINVAR KCNE1 mutations cause jervell and Lange-Nielsen syndrome. 9354783

1997
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 GeneticVariation CLINVAR Here, we define KCNE1 missense mutations in affected members of two LQT families. 9354802

1997
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 GeneticVariation CLINVAR KCNE1 mutations cause jervell and Lange-Nielsen syndrome. 9354783

1997