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: C1867904
Disease: LONG QT SYNDROME 5
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
CUI: C1867904
Disease: LONG QT SYNDROME 5
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
CUI: C1867904
Disease: LONG QT SYNDROME 5
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
CUI: C1867904
Disease: LONG QT SYNDROME 5
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
CUI: C1867904
Disease: LONG QT SYNDROME 5
LONG QT SYNDROME 5 		0.710 CausalMutation CLINVAR

Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1
CUI: C1867904
Disease: LONG QT SYNDROME 5
LONG QT SYNDROME 5 		0.710 SusceptibilityMutation CLINVAR

Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1
CUI: C0022387
Disease: Jervell-Lange Nielsen Syndrome
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
CUI: C0022387
Disease: Jervell-Lange Nielsen Syndrome
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
CUI: C0022387
Disease: Jervell-Lange Nielsen Syndrome
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
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: C0022387
Disease: Jervell-Lange Nielsen Syndrome
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
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: C0022387
Disease: Jervell-Lange Nielsen Syndrome
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
CUI: C0022387
Disease: Jervell-Lange Nielsen Syndrome
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
CUI: C0022387
Disease: Jervell-Lange Nielsen Syndrome
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
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: C0022387
Disease: Jervell-Lange Nielsen Syndrome
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
CUI: C0022387
Disease: Jervell-Lange Nielsen Syndrome
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