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 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: C2676723
Disease: JERVELL AND LANGE-NIELSEN SYNDROME 2 (disorder)
JERVELL AND LANGE-NIELSEN SYNDROME 2 (disorder) 		0.700 CausalMutation CLINVAR

Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.110 CausalMutation CLINVAR

Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.100 GeneticVariation CLINVAR

Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1
CUI: C0151878
Disease: Prolonged QT interval
Prolonged QT interval 		0.100 CausalMutation CLINVAR

Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1
CUI: C3150956
Disease: LONG QT SYNDROME 5, ACQUIRED, SUSCEPTIBILITY TO
LONG QT SYNDROME 5, ACQUIRED, SUSCEPTIBILITY TO 		0.100 SusceptibilityMutation CLINVAR

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: C0022387
Disease: Jervell-Lange Nielsen Syndrome
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
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 KCNE1 mutations cause jervell and Lange-Nielsen syndrome. 9354783

1997
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		0.170 GeneticVariation CLINVAR KCNE1 mutations cause jervell and Lange-Nielsen syndrome. 9354783

1997
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1
CUI: C0022387
Disease: Jervell-Lange Nielsen Syndrome
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
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 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: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		0.170 GeneticVariation CLINVAR Mutations in the hminK gene cause long QT syndrome and suppress IKs function. 9354802

1997
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1
CUI: C0022387
Disease: Jervell-Lange Nielsen Syndrome
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
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: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		0.170 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 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 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: C0022387
Disease: Jervell-Lange Nielsen Syndrome
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
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		0.170 GeneticVariation CLINVAR Distinct gene-specific mechanisms of arrhythmia revealed by cardiac gene transfer of two long QT disease genes, HERG and KCNE1. 11320260

2001