DisGeNET - a database of gene-disease associations

FBP1, fructose-bisphosphatase 1, 2203

N. diseases: 125; N. variants: 18

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:

rs121918188

Entrez Id:	2203
Gene Symbol:	FBP1

FBP1

CUI:	C0016756
Disease:

Fructose-1,6-Diphosphatase Deficiency

0.800

CausalMutation

CLINVAR

A summary of molecular genetic findings in fructose-1,6-bisphosphatase deficiency with a focus on a common long-range deletion and the role of MLPA analysis.

27101822

2016

dbSNP:

rs121918188

Entrez Id:	2203
Gene Symbol:	FBP1

FBP1

CUI:	C0016756
Disease:

Fructose-1,6-Diphosphatase Deficiency

0.800

CausalMutation

CLINVAR

Fructose 1,6-bisphosphatase deficiency: clinical, biochemical and genetic features in French patients.

25601412

2015

dbSNP:

rs121918188

Entrez Id:	2203
Gene Symbol:	FBP1

FBP1

CUI:	C0016756
Disease:

Fructose-1,6-Diphosphatase Deficiency

0.800

GeneticVariation

UNIPROT

Fructose 1,6-bisphosphatase deficiency: clinical, biochemical and genetic features in French patients.

25601412

2015

dbSNP:

rs121918189

Entrez Id:	2203
Gene Symbol:	FBP1

FBP1

CUI:	C0016756
Disease:

Fructose-1,6-Diphosphatase Deficiency

0.800

GeneticVariation

UNIPROT

Fructose 1,6-bisphosphatase deficiency: clinical, biochemical and genetic features in French patients.

25601412

2015

dbSNP:

rs121918191

Entrez Id:	2203
Gene Symbol:	FBP1

FBP1

CUI:	C0016756
Disease:

Fructose-1,6-Diphosphatase Deficiency

0.800

GeneticVariation

UNIPROT

Fructose 1,6-bisphosphatase deficiency: clinical, biochemical and genetic features in French patients.

25601412

2015

dbSNP:

rs121918192

Entrez Id:	2203;101928099
Gene Symbol:	FBP1;PCAT7

FBP1;PCAT7

CUI:	C0016756
Disease:

Fructose-1,6-Diphosphatase Deficiency

0.800

GeneticVariation

UNIPROT

Fructose 1,6-bisphosphatase deficiency: clinical, biochemical and genetic features in French patients.

25601412

2015

dbSNP:

rs121918188

Entrez Id:	2203
Gene Symbol:	FBP1

FBP1

CUI:	C0016756
Disease:

Fructose-1,6-Diphosphatase Deficiency

0.800

CausalMutation

CLINVAR

Novel compound heterozygous mutations in the fructose-1,6-bisphosphatase gene cause hypoglycemia and lactic acidosis.

20096900

2011

dbSNP:

rs121918188

Entrez Id:	2203
Gene Symbol:	FBP1

FBP1

CUI:	C0016756
Disease:

Fructose-1,6-Diphosphatase Deficiency

0.800

GeneticVariation

UNIPROT

Two newly identified genomic mutations in a Japanese female patient with fructose-1,6-bisphosphatase (FBPase) deficiency.

12126934

2002

dbSNP:

rs121918189

Entrez Id:	2203
Gene Symbol:	FBP1

FBP1

CUI:	C0016756
Disease:

Fructose-1,6-Diphosphatase Deficiency

0.800

GeneticVariation

UNIPROT

Two newly identified genomic mutations in a Japanese female patient with fructose-1,6-bisphosphatase (FBPase) deficiency.

12126934

2002

dbSNP:

rs121918191

Entrez Id:	2203
Gene Symbol:	FBP1

FBP1

CUI:	C0016756
Disease:

Fructose-1,6-Diphosphatase Deficiency

0.800

GeneticVariation

UNIPROT

Two newly identified genomic mutations in a Japanese female patient with fructose-1,6-bisphosphatase (FBPase) deficiency.

12126934

2002

dbSNP:

rs121918192

Entrez Id:	2203;101928099
Gene Symbol:	FBP1;PCAT7

FBP1;PCAT7

CUI:	C0016756
Disease:

Fructose-1,6-Diphosphatase Deficiency

0.800

GeneticVariation

UNIPROT

Two newly identified genomic mutations in a Japanese female patient with fructose-1,6-bisphosphatase (FBPase) deficiency.

12126934

2002

dbSNP:

rs121918188

Entrez Id:	2203
Gene Symbol:	FBP1

FBP1

CUI:	C0016756
Disease:

Fructose-1,6-Diphosphatase Deficiency

0.800

GeneticVariation

UNIPROT

Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency.

9382095

1997

dbSNP:

rs121918188

Entrez Id:	2203
Gene Symbol:	FBP1

FBP1

CUI:	C0016756
Disease:

Fructose-1,6-Diphosphatase Deficiency

0.800

CausalMutation

CLINVAR

Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency.

9382095

1997

dbSNP:

rs121918189

Entrez Id:	2203
Gene Symbol:	FBP1

FBP1

CUI:	C0016756
Disease:

Fructose-1,6-Diphosphatase Deficiency

0.800

GeneticVariation

UNIPROT

Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency.

9382095

1997

dbSNP:

rs121918191

Entrez Id:	2203
Gene Symbol:	FBP1

FBP1

CUI:	C0016756
Disease:

Fructose-1,6-Diphosphatase Deficiency

0.800

GeneticVariation

UNIPROT

Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency.

9382095

1997

dbSNP:

rs121918192

Entrez Id:	2203;101928099
Gene Symbol:	FBP1;PCAT7

FBP1;PCAT7

CUI:	C0016756
Disease:

Fructose-1,6-Diphosphatase Deficiency

0.800

GeneticVariation

UNIPROT

Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency.

9382095

1997

dbSNP:

rs121918189

Entrez Id:	2203
Gene Symbol:	FBP1

FBP1

CUI:	C0016756
Disease:

Fructose-1,6-Diphosphatase Deficiency

0.800

CausalMutation

CLINVAR

dbSNP:

rs121918191

Entrez Id:	2203
Gene Symbol:	FBP1

FBP1

CUI:	C0016756
Disease:

Fructose-1,6-Diphosphatase Deficiency

0.800

CausalMutation

CLINVAR

dbSNP:

rs121918192

Entrez Id:	2203;101928099
Gene Symbol:	FBP1;PCAT7

FBP1;PCAT7

CUI:	C0016756
Disease:

Fructose-1,6-Diphosphatase Deficiency

0.800

CausalMutation

CLINVAR

dbSNP:

rs766005419

Entrez Id:	2203
Gene Symbol:	FBP1

FBP1

CUI:	C0016756
Disease:

Fructose-1,6-Diphosphatase Deficiency

0.800

GeneticVariation

UNIPROT

dbSNP:

rs766005419

Entrez Id:	2203
Gene Symbol:	FBP1

FBP1

CUI:	C0016756
Disease:

Fructose-1,6-Diphosphatase Deficiency

0.800

CausalMutation

CLINVAR

dbSNP:

rs566453434

Entrez Id:	2203;101928099
Gene Symbol:	FBP1;PCAT7

FBP1;PCAT7

CUI:	C0016756
Disease:

Fructose-1,6-Diphosphatase Deficiency

0.710

CausalMutation

CLINVAR

Clinical and molecular characterization of Indian patients with fructose-1, 6-bisphosphatase deficiency: Identification of a frequent variant (E281K).

29774539

2018

dbSNP:

rs566453434

Entrez Id:	2203;101928099
Gene Symbol:	FBP1;PCAT7

FBP1;PCAT7

CUI:	C0016756
Disease:

Fructose-1,6-Diphosphatase Deficiency

0.710

GeneticVariation

BEFREE

Clinical and molecular characterization of Indian patients with fructose-1, 6-bisphosphatase deficiency: Identification of a frequent variant (E281K).

29774539

2018

dbSNP:

rs566453434

Entrez Id:	2203;101928099
Gene Symbol:	FBP1;PCAT7

FBP1;PCAT7

CUI:	C0016756
Disease:

Fructose-1,6-Diphosphatase Deficiency

0.710

CausalMutation

CLINVAR

Genetic analysis of fructose-1,6-bisphosphatase (FBPase) deficiency in nine consanguineous Pakistani families.

29016355

2017

dbSNP:

rs566453434

Entrez Id:	2203;101928099
Gene Symbol:	FBP1;PCAT7

FBP1;PCAT7

CUI:	C0016756
Disease:

Fructose-1,6-Diphosphatase Deficiency

0.710

CausalMutation

CLINVAR

A summary of molecular genetic findings in fructose-1,6-bisphosphatase deficiency with a focus on a common long-range deletion and the role of MLPA analysis.

27101822

2016