DisGeNET - a database of gene-disease associations

KCNJ11, potassium inwardly rectifying channel subfamily J member 11, 3767

N. diseases: 218; N. variants: 80

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:

rs104894236

Entrez Id:	3767
Gene Symbol:	KCNJ11

KCNJ11

CUI:	C2931833
Disease:

Hyperinsulinemic hypoglycemia, familial, 2

0.700

CausalMutation

CLINVAR

dbSNP:

rs104894237

Entrez Id:	3767
Gene Symbol:	KCNJ11

KCNJ11

CUI:	C2931833
Disease:

Hyperinsulinemic hypoglycemia, familial, 2

0.800

GeneticVariation

UNIPROT

Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel genes.

15562009

2005

dbSNP:

rs104894237

Entrez Id:	3767
Gene Symbol:	KCNJ11

KCNJ11

CUI:	C2931833
Disease:

Hyperinsulinemic hypoglycemia, familial, 2

0.800

GeneticVariation

UNIPROT

Molecular biology of adenosine triphosphate-sensitive potassium channels.

10204114

1999

dbSNP:

rs104894237

Entrez Id:	3767
Gene Symbol:	KCNJ11

KCNJ11

CUI:	C2931833
Disease:

Hyperinsulinemic hypoglycemia, familial, 2

0.800

CausalMutation

CLINVAR

dbSNP:

rs104894237

Entrez Id:	3767
Gene Symbol:	KCNJ11

KCNJ11

CUI:	C2931833
Disease:

Hyperinsulinemic hypoglycemia, familial, 2

0.800

GeneticVariation

UNIPROT

Molecular and immunohistochemical analyses of the focal form of congenital hyperinsulinism.

16357843

2006

dbSNP:

rs104894237

Entrez Id:	3767
Gene Symbol:	KCNJ11

KCNJ11

CUI:	C2931833
Disease:

Hyperinsulinemic hypoglycemia, familial, 2

0.800

GeneticVariation

UNIPROT

Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy.

8923010

1996

dbSNP:

rs104894237

Entrez Id:	3767
Gene Symbol:	KCNJ11

KCNJ11

CUI:	C2931833
Disease:

Hyperinsulinemic hypoglycemia, familial, 2

0.800

GeneticVariation

UNIPROT

Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations.

18596924

2008

dbSNP:

rs104894237

Entrez Id:	3767
Gene Symbol:	KCNJ11

KCNJ11

CUI:	C2931833
Disease:

Hyperinsulinemic hypoglycemia, familial, 2

0.800

GeneticVariation

UNIPROT

Severe congenital hyperinsulinism caused by a mutation in the Kir6.2 subunit of the adenosine triphosphate-sensitive potassium channel impairing trafficking and function.

15998776

2005

dbSNP:

rs104894237

Entrez Id:	3767
Gene Symbol:	KCNJ11

KCNJ11

CUI:	C2931833
Disease:

Hyperinsulinemic hypoglycemia, familial, 2

0.800

GeneticVariation

UNIPROT

Homozygosity mapping, to chromosome 11p, of the gene for familial persistent hyperinsulinemic hypoglycemia of infancy.

7847376

1995

dbSNP:

rs104894237

Entrez Id:	3767
Gene Symbol:	KCNJ11

KCNJ11

CUI:	C2931833
Disease:

Hyperinsulinemic hypoglycemia, familial, 2

0.800

GeneticVariation

UNIPROT

Acute insulin response tests for the differential diagnosis of congenital hyperinsulinism.

12364426

2002

dbSNP:

rs104894237

Entrez Id:	3767
Gene Symbol:	KCNJ11

KCNJ11

CUI:	C2931833
Disease:

Hyperinsulinemic hypoglycemia, familial, 2

0.800

GeneticVariation

UNIPROT

A novel KCNJ11 mutation associated with congenital hyperinsulinism reduces the intrinsic open probability of beta-cell ATP-sensitive potassium channels.

16332676

2006

dbSNP:

rs104894237

Entrez Id:	3767
Gene Symbol:	KCNJ11

KCNJ11

CUI:	C2931833
Disease:

Hyperinsulinemic hypoglycemia, familial, 2

0.800

GeneticVariation

UNIPROT

Sar1-GTPase-dependent ER exit of KATP channels revealed by a mutation causing congenital hyperinsulinism.

19357197

2009

dbSNP:

rs104894237

Entrez Id:	3767
Gene Symbol:	KCNJ11

KCNJ11

CUI:	C2931833
Disease:

Hyperinsulinemic hypoglycemia, familial, 2

0.800

GeneticVariation

UNIPROT

Genotypes of the pancreatic beta-cell K-ATP channel and clinical phenotypes of Japanese patients with persistent hyperinsulinaemic hypoglycaemia of infancy.

15807877

2005

dbSNP:

rs104894237

Entrez Id:	3767
Gene Symbol:	KCNJ11

KCNJ11

CUI:	C2931833
Disease:

Hyperinsulinemic hypoglycemia, familial, 2

0.800

GeneticVariation

UNIPROT

Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity.

15579781

2004

dbSNP:

rs104894248

Entrez Id:	3767
Gene Symbol:	KCNJ11

KCNJ11

CUI:	C2931833
Disease:

Hyperinsulinemic hypoglycemia, familial, 2

0.800

GeneticVariation

UNIPROT

Homozygosity mapping, to chromosome 11p, of the gene for familial persistent hyperinsulinemic hypoglycemia of infancy.

7847376

1995

dbSNP:

rs104894248

Entrez Id:	3767
Gene Symbol:	KCNJ11

KCNJ11

CUI:	C2931833
Disease:

Hyperinsulinemic hypoglycemia, familial, 2

0.800

GeneticVariation

UNIPROT

Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy.

8923010

1996

dbSNP:

rs104894248

Entrez Id:	3767
Gene Symbol:	KCNJ11

KCNJ11

CUI:	C2931833
Disease:

Hyperinsulinemic hypoglycemia, familial, 2

0.800

GeneticVariation

UNIPROT

Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations.

18596924

2008

dbSNP:

rs104894248

Entrez Id:	3767
Gene Symbol:	KCNJ11

KCNJ11

CUI:	C2931833
Disease:

Hyperinsulinemic hypoglycemia, familial, 2

0.800

CausalMutation

CLINVAR

dbSNP:

rs104894248

Entrez Id:	3767
Gene Symbol:	KCNJ11

KCNJ11

CUI:	C2931833
Disease:

Hyperinsulinemic hypoglycemia, familial, 2

0.800

GeneticVariation

UNIPROT

A novel KCNJ11 mutation associated with congenital hyperinsulinism reduces the intrinsic open probability of beta-cell ATP-sensitive potassium channels.

16332676

2006

dbSNP:

rs104894248

Entrez Id:	3767
Gene Symbol:	KCNJ11

KCNJ11

CUI:	C2931833
Disease:

Hyperinsulinemic hypoglycemia, familial, 2

0.800

GeneticVariation

UNIPROT

Acute insulin response tests for the differential diagnosis of congenital hyperinsulinism.

12364426

2002

dbSNP:

rs104894248

Entrez Id:	3767
Gene Symbol:	KCNJ11

KCNJ11

CUI:	C2931833
Disease:

Hyperinsulinemic hypoglycemia, familial, 2

0.800

GeneticVariation

UNIPROT

Molecular biology of adenosine triphosphate-sensitive potassium channels.

10204114

1999

dbSNP:

rs104894248

Entrez Id:	3767
Gene Symbol:	KCNJ11

KCNJ11

CUI:	C2931833
Disease:

Hyperinsulinemic hypoglycemia, familial, 2

0.800

GeneticVariation

UNIPROT

Molecular and immunohistochemical analyses of the focal form of congenital hyperinsulinism.

16357843

2006

dbSNP:

rs104894248

Entrez Id:	3767
Gene Symbol:	KCNJ11

KCNJ11

CUI:	C2931833
Disease:

Hyperinsulinemic hypoglycemia, familial, 2

0.800

GeneticVariation

UNIPROT

Severe congenital hyperinsulinism caused by a mutation in the Kir6.2 subunit of the adenosine triphosphate-sensitive potassium channel impairing trafficking and function.

15998776

2005

dbSNP:

rs104894248

Entrez Id:	3767
Gene Symbol:	KCNJ11

KCNJ11

CUI:	C2931833
Disease:

Hyperinsulinemic hypoglycemia, familial, 2

0.800

GeneticVariation

UNIPROT

Sar1-GTPase-dependent ER exit of KATP channels revealed by a mutation causing congenital hyperinsulinism.

19357197

2009

dbSNP:

rs104894248

Entrez Id:	3767
Gene Symbol:	KCNJ11

KCNJ11

CUI:	C2931833
Disease:

Hyperinsulinemic hypoglycemia, familial, 2

0.800

GeneticVariation

UNIPROT

Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel genes.

15562009

2005