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: 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 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: C0022387
Disease: Jervell-Lange Nielsen Syndrome
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
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		0.170 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
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 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: 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: 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: 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
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: 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 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: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		0.170 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: 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: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		0.170 GeneticVariation CLINVAR Functional interactions between KCNE1 C-terminus and the KCNQ1 channel. 19340287

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