DisGeNET - a database of gene-disease associations

KCNE2, potassium voltage-gated channel subfamily E regulatory subunit 2, 9992

N. diseases: 66; N. variants: 14

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs74315447

Entrez Id:	9992;105372791
Gene Symbol:	KCNE2;LOC105372791

KCNE2;LOC105372791

CUI:	C3150953
Disease:

Long Qt Syndrome 6

0.800

GeneticVariation

UNIPROT

Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.

19716085

2009

dbSNP:

rs74315448

Entrez Id:	9992;105372791
Gene Symbol:	KCNE2;LOC105372791

KCNE2;LOC105372791

CUI:	C3150953
Disease:

Long Qt Syndrome 6

0.800

GeneticVariation

UNIPROT

Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.

19716085

2009

dbSNP:

rs74315447

Entrez Id:	9992;105372791
Gene Symbol:	KCNE2;LOC105372791

KCNE2;LOC105372791

CUI:	C3150953
Disease:

Long Qt Syndrome 6

0.800

GeneticVariation

UNIPROT

Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.

16922724

2006

dbSNP:

rs74315448

Entrez Id:	9992;105372791
Gene Symbol:	KCNE2;LOC105372791

KCNE2;LOC105372791

CUI:	C3150953
Disease:

Long Qt Syndrome 6

0.800

GeneticVariation

UNIPROT

Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.

16922724

2006

dbSNP:

rs74315449

Entrez Id:	9992;105372791
Gene Symbol:	KCNE2;LOC105372791

KCNE2;LOC105372791

CUI:	C1862394
Disease:

Atrial Fibrillation, Familial, 4

0.800

GeneticVariation

UNIPROT

Identification of a KCNE2 gain-of-function mutation in patients with familial atrial fibrillation.

15368194

2004

dbSNP:

rs74315449

Entrez Id:	9992;105372791
Gene Symbol:	KCNE2;LOC105372791

KCNE2;LOC105372791

CUI:	C1862394
Disease:

Atrial Fibrillation, Familial, 4

0.800

GeneticVariation

CLINVAR

Identification of a KCNE2 gain-of-function mutation in patients with familial atrial fibrillation.

15368194

2004

dbSNP:

rs74315447

Entrez Id:	9992;105372791
Gene Symbol:	KCNE2;LOC105372791

KCNE2;LOC105372791

CUI:	C3150953
Disease:

Long Qt Syndrome 6

0.800

GeneticVariation

UNIPROT

Identification and functional characterization of a novel KCNE2 (MiRP1) mutation that alters HERG channel kinetics.

12185453

2002

dbSNP:

rs74315448

Entrez Id:	9992;105372791
Gene Symbol:	KCNE2;LOC105372791

KCNE2;LOC105372791

CUI:	C3150953
Disease:

Long Qt Syndrome 6

0.800

GeneticVariation

UNIPROT

Identification and functional characterization of a novel KCNE2 (MiRP1) mutation that alters HERG channel kinetics.

12185453

2002

dbSNP:

rs74315447

Entrez Id:	9992;105372791
Gene Symbol:	KCNE2;LOC105372791

KCNE2;LOC105372791

CUI:	C3150953
Disease:

Long Qt Syndrome 6

0.800

GeneticVariation

UNIPROT

MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia.

10219239

1999

dbSNP:

rs74315448

Entrez Id:	9992;105372791
Gene Symbol:	KCNE2;LOC105372791

KCNE2;LOC105372791

CUI:	C3150953
Disease:

Long Qt Syndrome 6

0.800

GeneticVariation

UNIPROT

MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia.

10219239

1999

dbSNP:

rs74315447

Entrez Id:	9992;105372791
Gene Symbol:	KCNE2;LOC105372791

KCNE2;LOC105372791

CUI:	C3150953
Disease:

Long Qt Syndrome 6

0.800

CausalMutation

CLINVAR

dbSNP:

rs74315447

Entrez Id:	9992;105372791
Gene Symbol:	KCNE2;LOC105372791

KCNE2;LOC105372791

CUI:	C3150953
Disease:

Long Qt Syndrome 6

0.800

SusceptibilityMutation

CLINVAR

dbSNP:

rs74315448

Entrez Id:	9992;105372791
Gene Symbol:	KCNE2;LOC105372791

KCNE2;LOC105372791

CUI:	C3150953
Disease:

Long Qt Syndrome 6

0.800

CausalMutation

CLINVAR

dbSNP:

rs74315449

Entrez Id:	9992;105372791
Gene Symbol:	KCNE2;LOC105372791

KCNE2;LOC105372791

CUI:	C1862394
Disease:

Atrial Fibrillation, Familial, 4

0.800

CausalMutation

CLINVAR

dbSNP:

rs10854373

Entrez Id:	9992;105372791
Gene Symbol:	KCNE2;LOC105372791

KCNE2;LOC105372791

CUI:	C0006826
Disease:

Malignant Neoplasms

0.700

GeneticVariation

GWASCAT

Cancer risk susceptibility loci in a Swedish population.

29299148

2017

dbSNP:

rs13048252

Entrez Id:	9992;105372791
Gene Symbol:	KCNE2;LOC105372791

KCNE2;LOC105372791

CUI:	C0006826
Disease:

Malignant Neoplasms

0.700

GeneticVariation

GWASCAT

Cancer risk susceptibility loci in a Swedish population.

29299148

2017

dbSNP:

rs141423405

Entrez Id:	9992;105372791
Gene Symbol:	KCNE2;LOC105372791

KCNE2;LOC105372791

CUI:	C3150953
Disease:

Long Qt Syndrome 6

0.700

GeneticVariation

UNIPROT

Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.

19716085

2009

dbSNP:

rs199473363

Entrez Id:	9992;105372791
Gene Symbol:	KCNE2;LOC105372791

KCNE2;LOC105372791

CUI:	C3150953
Disease:

Long Qt Syndrome 6

0.700

GeneticVariation

UNIPROT

Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.

19716085

2009

dbSNP:

rs199473364

Entrez Id:	9992;105372791
Gene Symbol:	KCNE2;LOC105372791

KCNE2;LOC105372791

CUI:	C3150953
Disease:

Long Qt Syndrome 6

0.700

GeneticVariation

UNIPROT

Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.

19716085

2009

dbSNP:

rs199473365

Entrez Id:	9992;105372791
Gene Symbol:	KCNE2;LOC105372791

KCNE2;LOC105372791

CUI:	C3150953
Disease:

Long Qt Syndrome 6

0.700

GeneticVariation

UNIPROT

Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.

19716085

2009

dbSNP:

rs74424227

Entrez Id:	9992;105372791
Gene Symbol:	KCNE2;LOC105372791

KCNE2;LOC105372791

CUI:	C3150953
Disease:

Long Qt Syndrome 6

0.700

GeneticVariation

UNIPROT

Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.

19716085

2009

dbSNP:

rs141423405

Entrez Id:	9992;105372791
Gene Symbol:	KCNE2;LOC105372791

KCNE2;LOC105372791

CUI:	C3150953
Disease:

Long Qt Syndrome 6

0.700

GeneticVariation

UNIPROT

Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.

16922724

2006

dbSNP:

rs199473363

Entrez Id:	9992;105372791
Gene Symbol:	KCNE2;LOC105372791

KCNE2;LOC105372791

CUI:	C3150953
Disease:

Long Qt Syndrome 6

0.700

GeneticVariation

UNIPROT

Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.

16922724

2006

dbSNP:

rs199473364

Entrez Id:	9992;105372791
Gene Symbol:	KCNE2;LOC105372791

KCNE2;LOC105372791

CUI:	C3150953
Disease:

Long Qt Syndrome 6

0.700

GeneticVariation

UNIPROT

Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.

16922724

2006

dbSNP:

rs199473365

Entrez Id:	9992;105372791
Gene Symbol:	KCNE2;LOC105372791

KCNE2;LOC105372791

CUI:	C3150953
Disease:

Long Qt Syndrome 6

0.700

GeneticVariation

UNIPROT

Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.

16922724

2006