DisGeNET - a database of gene-disease associations

Hyperinsulinemic hypoglycemia, familial, 2, C2931833

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs74339576

KCNJ11

0.800

GeneticVariation

CLINVAR

Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism.

23345197

2013

dbSNP:

rs74339576

KCNJ11

0.800

GeneticVariation

CLINVAR

Genotype and phenotype correlations in 417 children with congenital hyperinsulinism.

23275527

2013

dbSNP:

rs74339576

KCNJ11

0.800

GeneticVariation

CLINVAR

Role of Derlin-1 protein in proteostasis regulation of ATP-sensitive potassium channels.

22311976

2012

dbSNP:

rs74339576

KCNJ11

0.800

GeneticVariation

CLINVAR

ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism.

20685672

2010

dbSNP:

rs104894237

KCNJ11

0.800

GeneticVariation

UNIPROT

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

19357197

2009

dbSNP:

rs104894248

KCNJ11

0.800

GeneticVariation

UNIPROT

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

19357197

2009

dbSNP:

rs1404429785

KCNJ11

0.800

GeneticVariation

UNIPROT

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

19357197

2009

dbSNP:

rs267607196

KCNJ11

0.800

GeneticVariation

UNIPROT

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

19357197

2009

dbSNP:

rs74339576

KCNJ11

0.800

GeneticVariation

UNIPROT

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

19357197

2009

dbSNP:

rs104894237

KCNJ11

0.800

GeneticVariation

UNIPROT

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

18596924

2008

dbSNP:

rs104894248

KCNJ11

0.800

GeneticVariation

UNIPROT

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

18596924

2008

dbSNP:

rs1404429785

KCNJ11

0.800

GeneticVariation

UNIPROT

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

18596924

2008

dbSNP:

rs267607196

KCNJ11

0.800

GeneticVariation

UNIPROT

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

18596924

2008

dbSNP:

rs74339576

KCNJ11

0.800

GeneticVariation

UNIPROT

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

18596924

2008

dbSNP:

rs74339576

KCNJ11

0.800

GeneticVariation

CLINVAR

Destabilization of ATP-sensitive potassium channel activity by novel KCNJ11 mutations identified in congenital hyperinsulinism.

18250167

2008

dbSNP:

rs104894237

KCNJ11

0.800

GeneticVariation

UNIPROT

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

16357843

2006

dbSNP:

rs104894237

KCNJ11

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

KCNJ11

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

KCNJ11

0.800

GeneticVariation

UNIPROT

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

16357843

2006

dbSNP:

rs1404429785

KCNJ11

0.800

GeneticVariation

UNIPROT

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

16357843

2006

dbSNP:

rs1404429785

KCNJ11

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:

rs267607196

KCNJ11

0.800

GeneticVariation

UNIPROT

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

16357843

2006

dbSNP:

rs267607196

KCNJ11

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:

rs74339576

KCNJ11

0.800

GeneticVariation

UNIPROT

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

16357843

2006

dbSNP:

rs74339576

KCNJ11

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