×
Entrez Id:
3753
Gene Symbol:
KCNE1
KCNE1
LONG QT SYNDROME 5
0.710
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
LONG QT SYNDROME 5
0.710
GeneticVariation
CLINVAR
KCNE1 mutations cause jervell and Lange-Nielsen syndrome.
9354783
1997
×
Entrez Id:
3753
Gene Symbol:
KCNE1
KCNE1
LONG QT SYNDROME 5
0.710
GeneticVariation
CLINVAR
Requirement of subunit expression for cAMP-mediated regulation of a heart potassium channel.
12566567
2003
×
Entrez Id:
3753
Gene Symbol:
KCNE1
KCNE1
LONG QT SYNDROME 5
0.710
CausalMutation
CLINVAR
×
Entrez Id:
3753
Gene Symbol:
KCNE1
KCNE1
LONG QT SYNDROME 5
0.710
GeneticVariation
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
LONG QT SYNDROME 5
0.710
SusceptibilityMutation
CLINVAR
×
Entrez Id:
3753
Gene Symbol:
KCNE1
KCNE1
Jervell-Lange Nielsen Syndrome
0.700
GeneticVariation
CLINVAR
Functional interactions between KCNE1 C-terminus and the KCNQ1 channel.
19340287
2009
×
Entrez Id:
3753
Gene Symbol:
KCNE1
KCNE1
Jervell-Lange Nielsen Syndrome
0.700
GeneticVariation
CLINVAR
Distinct gene-specific mechanisms of arrhythmia revealed by cardiac gene transfer of two long QT disease genes, HERG and KCNE1.
11320260
2001
×
Entrez Id:
3753
Gene Symbol:
KCNE1
KCNE1
Jervell-Lange Nielsen Syndrome
0.700
GeneticVariation
CLINVAR
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.
15840476
2005
×
Entrez Id:
3753
Gene Symbol:
KCNE1
KCNE1
Jervell-Lange Nielsen 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
Jervell-Lange Nielsen Syndrome
0.700
GeneticVariation
CLINVAR
Long QT syndrome-associated mutations in KCNQ1 and KCNE1 subunits disrupt normal endosomal recycling of IKs channels.
19008479
2008
×
Entrez Id:
3753
Gene Symbol:
KCNE1
KCNE1
Jervell-Lange Nielsen Syndrome
0.700
GeneticVariation
CLINVAR
Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death.
26187847
2015
×
Entrez Id:
3753
Gene Symbol:
KCNE1
KCNE1
Jervell-Lange Nielsen Syndrome
0.700
GeneticVariation
CLINVAR
Genotypic heterogeneity and phenotypic mimicry among unrelated patients referred for catecholaminergic polymorphic ventricular tachycardia genetic testing.
16818210
2006
×
Entrez Id:
3753
Gene Symbol:
KCNE1
KCNE1
Jervell-Lange Nielsen Syndrome
0.700
GeneticVariation
CLINVAR
Mutations in the hminK gene cause long QT syndrome and suppress IKs function.
9354802
1997
×
Entrez Id:
3753
Gene Symbol:
KCNE1
KCNE1
Jervell-Lange Nielsen 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
Jervell-Lange Nielsen 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
Jervell-Lange Nielsen Syndrome
0.700
GeneticVariation
CLINVAR
Intracellular domains interactions and gated motions of I(KS) potassium channel subunits.
19521339
2009
×
Entrez Id:
3753
Gene Symbol:
KCNE1
KCNE1
Jervell-Lange Nielsen Syndrome
0.700
GeneticVariation
CLINVAR
Requirement of subunit expression for cAMP-mediated regulation of a heart potassium channel.
12566567
2003
×
Entrez Id:
3753
Gene Symbol:
KCNE1
KCNE1
Jervell-Lange Nielsen Syndrome
0.700
GeneticVariation
CLINVAR
KCNE1 mutations cause jervell and Lange-Nielsen syndrome .
9354783
1997
×
Entrez Id:
3753
Gene Symbol:
KCNE1
KCNE1
Jervell-Lange Nielsen 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
Jervell-Lange Nielsen 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
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
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
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
Long QT Syndrome
0.700
CausalMutation
CLINVAR
Requirement of subunit expression for cAMP-mediated regulation of a heart potassium channel.
12566567
2003