DisGeNET - a database of gene-disease associations

DIABETES MELLITUS, PERMANENT NEONATAL, C1833104

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:

rs193929337

KCNJ11

0.810

GeneticVariation

UNIPROT

Conserved functional consequences of disease-associated mutations in the slide helix of Kir6.1 and Kir6.2 subunits of the ATP-sensitive potassium channel.

28842488

2017

dbSNP:

rs80356611

KCNJ11

0.810

GeneticVariation

UNIPROT

Conserved functional consequences of disease-associated mutations in the slide helix of Kir6.1 and Kir6.2 subunits of the ATP-sensitive potassium channel.

28842488

2017

dbSNP:

rs80356617

KCNJ11

0.810

GeneticVariation

UNIPROT

Conserved functional consequences of disease-associated mutations in the slide helix of Kir6.1 and Kir6.2 subunits of the ATP-sensitive potassium channel.

28842488

2017

dbSNP:

rs80356618

KCNJ11

0.810

GeneticVariation

UNIPROT

Conserved functional consequences of disease-associated mutations in the slide helix of Kir6.1 and Kir6.2 subunits of the ATP-sensitive potassium channel.

28842488

2017

dbSNP:

rs80356624

KCNJ11

0.810

GeneticVariation

UNIPROT

Conserved functional consequences of disease-associated mutations in the slide helix of Kir6.1 and Kir6.2 subunits of the ATP-sensitive potassium channel.

28842488

2017

dbSNP:

rs80356624

KCNJ11

0.810

GeneticVariation

BEFREE

Unsuccessful switch from insulin to sulfonylurea therapy in permanent neonatal diabetes mellitus due to an R201H mutation in the KCNJ11 gene: a case report.

23434183

2013

dbSNP:

rs193929337

KCNJ11

0.810

GeneticVariation

UNIPROT

Interaction between mutations in the slide helix of Kir6.2 associated with neonatal diabetes and neurological symptoms.

20022885

2010

dbSNP:

rs80356611

KCNJ11

0.810

GeneticVariation

UNIPROT

Interaction between mutations in the slide helix of Kir6.2 associated with neonatal diabetes and neurological symptoms.

20022885

2010

dbSNP:

rs80356617

KCNJ11

0.810

GeneticVariation

UNIPROT

Interaction between mutations in the slide helix of Kir6.2 associated with neonatal diabetes and neurological symptoms.

20022885

2010

dbSNP:

rs80356618

KCNJ11

0.810

GeneticVariation

UNIPROT

Interaction between mutations in the slide helix of Kir6.2 associated with neonatal diabetes and neurological symptoms.

20022885

2010

dbSNP:

rs80356624

KCNJ11

0.810

GeneticVariation

UNIPROT

Interaction between mutations in the slide helix of Kir6.2 associated with neonatal diabetes and neurological symptoms.

20022885

2010

dbSNP:

rs80356618

KCNJ11

0.810

GeneticVariation

BEFREE

We concluded that C166Y mutation was associated with a form of PNDM insensitive to glibenclamide.

19169493

2008

dbSNP:

rs1048095

ABCC8

0.810

GeneticVariation

UNIPROT

Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects.

17668386

2007

dbSNP:

rs1048095

ABCC8

0.810

GeneticVariation

UNIPROT

Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers.

17213273

2007

dbSNP:

rs1048095

ABCC8

0.810

GeneticVariation

BEFREE

A mutation in the TMD0-L0 region of sulfonylurea receptor-1 (L225P) causes permanent neonatal diabetes mellitus (PNDM).

17317760

2007

dbSNP:

rs193929337

KCNJ11

0.810

GeneticVariation

UNIPROT

A novel mutation causing DEND syndrome: a treatable channelopathy of pancreas and brain.

17652641

2007

dbSNP:

rs193929337

KCNJ11

0.810

GeneticVariation

UNIPROT

A mutation in the ATP-binding site of the Kir6.2 subunit of the KATP channel alters coupling with the SUR2A subunit.

17855752

2007

dbSNP:

rs193929337

KCNJ11

0.810

GeneticVariation

UNIPROT

Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers.

17213273

2007

dbSNP:

rs80356611

KCNJ11

0.810

GeneticVariation

UNIPROT

A mutation in the ATP-binding site of the Kir6.2 subunit of the KATP channel alters coupling with the SUR2A subunit.

17855752

2007

dbSNP:

rs80356611

KCNJ11

0.810

GeneticVariation

UNIPROT

A novel mutation causing DEND syndrome: a treatable channelopathy of pancreas and brain.

17652641

2007

dbSNP:

rs80356611

KCNJ11

0.810

GeneticVariation

UNIPROT

Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers.

17213273

2007

dbSNP:

rs80356617

KCNJ11

0.810

GeneticVariation

UNIPROT

A novel mutation causing DEND syndrome: a treatable channelopathy of pancreas and brain.

17652641

2007

dbSNP:

rs80356617

KCNJ11

0.810

GeneticVariation

UNIPROT

A mutation in the ATP-binding site of the Kir6.2 subunit of the KATP channel alters coupling with the SUR2A subunit.

17855752

2007

dbSNP:

rs80356617

KCNJ11

0.810

GeneticVariation

UNIPROT

Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers.

17213273

2007

dbSNP:

rs80356618

KCNJ11

0.810

GeneticVariation

UNIPROT

A mutation in the ATP-binding site of the Kir6.2 subunit of the KATP channel alters coupling with the SUR2A subunit.

17855752

2007