DisGeNET - a database of gene-disease associations

DIABETES MELLITUS, PERMANENT NEONATAL, C1833104

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Source: ALL

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	3767
Gene Symbol:	KCNJ11

KCNJ11

1.000

Biomarker

disease

MGD

Entrez Id:	3767
Gene Symbol:	KCNJ11

KCNJ11

1.000

CausalMutation

disease

CLINVAR

Entrez Id:	3630
Gene Symbol:	INS

INS

1.000

GeneticVariation

disease

CLINVAR

Entrez Id:	3630
Gene Symbol:	INS

INS

1.000

Biomarker

disease

GENOMICS_ENGLAND

Entrez Id:	3767
Gene Symbol:	KCNJ11

KCNJ11

1.000

Biomarker

disease

CTD_human

Entrez Id:	3630
Gene Symbol:	INS

INS

1.000

Biomarker

disease

CTD_human

Entrez Id:	3767
Gene Symbol:	KCNJ11

KCNJ11

1.000

Biomarker

disease

GENOMICS_ENGLAND

Entrez Id:	6833
Gene Symbol:	ABCC8

ABCC8

0.800

CausalMutation

disease

CLINVAR

Entrez Id:	6833
Gene Symbol:	ABCC8

ABCC8

0.800

Biomarker

disease

GENOMICS_ENGLAND

Entrez Id:	2645
Gene Symbol:	GCK

GCK

0.800

Biomarker

disease

CTD_human

Entrez Id:	6833
Gene Symbol:	ABCC8

ABCC8

0.800

GeneticVariation

disease

CLINVAR

Entrez Id:	2645
Gene Symbol:	GCK

GCK

0.800

GeneticVariation

disease

CLINVAR

Entrez Id:	2645
Gene Symbol:	GCK

GCK

0.800

CausalMutation

disease

CLINVAR

Entrez Id:	2645
Gene Symbol:	GCK

GCK

0.800

Biomarker

disease

GENOMICS_ENGLAND

Entrez Id:	6833
Gene Symbol:	ABCC8

ABCC8

0.800

Biomarker

disease

CTD_human

Entrez Id:	3651
Gene Symbol:	PDX1

PDX1

0.610

Biomarker

disease

CTD_human

Entrez Id:	723961
Gene Symbol:	INS-IGF2

INS-IGF2

0.100

GeneticVariation

disease

CLINVAR

Entrez Id:	3630
Gene Symbol:	INS

INS

1.000

Biomarker

disease

MGD

Mapping of murine diabetogenic gene mody on chromosome 7 at D7Mit258 and its involvement in pancreatic islet and beta cell development during the perinatal period.

9593767

1998

Entrez Id:	2645
Gene Symbol:	GCK

GCK

0.800

GeneticVariation

disease

UNIPROT

Neonatal diabetes mellitus due to complete glucokinase deficiency.

11372010

2001

Entrez Id:	3767
Gene Symbol:	KCNJ11

KCNJ11

1.000

GeneticVariation

disease

CLINVAR

Unbalanced expression of 11p15 imprinted genes in focal forms of congenital hyperinsulinism: association with a reduction to homozygosity of a mutation in ABCC8 or KCNJ11.

11395395

2001

Entrez Id:	3767
Gene Symbol:	KCNJ11

KCNJ11

1.000

GeneticVariation

disease

CLINVAR

Molecular basis for Kir6.2 channel inhibition by adenine nucleotides.

12524280

2003

Entrez Id:	3651
Gene Symbol:	PDX1

PDX1

0.610

CausalMutation

disease

CLINVAR

Agenesis of human pancreas due to decreased half-life of insulin promoter factor 1.

12970316

2003

Entrez Id:	2645
Gene Symbol:	GCK

GCK

0.800

GeneticVariation

disease

BEFREE

Homozygous inactivating GCK mutations result in a more severe phenotype, presenting at birth as permanent neonatal diabetes mellitus (PNDM).

14517946

2003

Entrez Id:	3767
Gene Symbol:	KCNJ11

KCNJ11

1.000

GeneticVariation

disease

UNIPROT

Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes.

15115830

2004

Entrez Id:	3767
Gene Symbol:	KCNJ11

KCNJ11

1.000

GeneticVariation

disease

UNIPROT

Permanent neonatal diabetes due to paternal germline mosaicism for an activating mutation of the KCNJ11 Gene encoding the Kir6.2 subunit of the beta-cell potassium adenosine triphosphate channel.

15292329

2004