DisGeNET - a database of gene-disease associations

DIABETES MELLITUS, PERMANENT NEONATAL, C1833104

Gene: ABCC8 ×

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:

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:

rs1048095

ABCC8

0.810

GeneticVariation

UNIPROT

Activating mutations in the ABCC8 gene in neonatal diabetes mellitus.

16885549

2006

dbSNP:

rs1048095

ABCC8

0.810

GeneticVariation

UNIPROT

A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes.

16613899

2006

dbSNP:

rs1048095

ABCC8

0.810

CausalMutation

CLINVAR

dbSNP:

rs137852676

ABCC8

0.800

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:

rs137852676

ABCC8

0.800

GeneticVariation

UNIPROT

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

17668386

2007

dbSNP:

rs80356634

ABCC8

0.800

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:

rs80356634

ABCC8

0.800

GeneticVariation

UNIPROT

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

17668386

2007

dbSNP:

rs80356637

ABCC8

0.800

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:

rs80356637

ABCC8

0.800

GeneticVariation

UNIPROT

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

17668386

2007

dbSNP:

rs80356640

ABCC8

0.800

GeneticVariation

UNIPROT

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

17668386

2007

dbSNP:

rs80356640

ABCC8

0.800

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:

rs80356642

ABCC8

0.800

GeneticVariation

UNIPROT

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

17668386

2007

dbSNP:

rs80356642

ABCC8

0.800

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:

rs80356651

ABCC8

0.800

GeneticVariation

UNIPROT

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

17668386

2007

dbSNP:

rs80356651

ABCC8

0.800

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:

rs80356653

ABCC8

0.800

GeneticVariation

UNIPROT

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

17668386

2007

dbSNP:

rs80356653

ABCC8

0.800

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:

rs137852676

ABCC8

0.800

GeneticVariation

UNIPROT

Activating mutations in the ABCC8 gene in neonatal diabetes mellitus.

16885549

2006

dbSNP:

rs137852676

ABCC8

0.800

GeneticVariation

UNIPROT

A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes.

16613899

2006

dbSNP:

rs80356634

ABCC8

0.800

GeneticVariation

UNIPROT

A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes.

16613899

2006

dbSNP:

rs80356634

ABCC8

0.800

GeneticVariation

UNIPROT

Activating mutations in the ABCC8 gene in neonatal diabetes mellitus.

16885549

2006

dbSNP:

rs80356637

ABCC8

0.800

GeneticVariation

UNIPROT

Activating mutations in the ABCC8 gene in neonatal diabetes mellitus.

16885549

2006