FBP1, fructose-bisphosphatase 1, 2203

N. diseases: 125; N. variants: 18
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0016756
Disease: Fructose-1,6-Diphosphatase Deficiency
Fructose-1,6-Diphosphatase Deficiency 		0.730 CausalMutation disease CLINVAR Clinical and molecular characterization of Indian patients with fructose-1, 6-bisphosphatase deficiency: Identification of a frequent variant (E281K). 29774539 2018
CUI: C0016756
Disease: Fructose-1,6-Diphosphatase Deficiency
Fructose-1,6-Diphosphatase Deficiency 		0.730 CausalMutation disease CLINVAR Genetic analysis of fructose-1,6-bisphosphatase (FBPase) deficiency in nine consanguineous Pakistani families. 29016355 2017
CUI: C0016756
Disease: Fructose-1,6-Diphosphatase Deficiency
Fructose-1,6-Diphosphatase Deficiency 		0.730 CausalMutation disease 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
CUI: C0016756
Disease: Fructose-1,6-Diphosphatase Deficiency
Fructose-1,6-Diphosphatase Deficiency 		0.730 GeneticVariation disease BEFREE We report our experience with mutation analysis in 14 patients (13 families) with fructose-1,6-bisphosphatase deficiency using conventional Sanger sequencing and multiplex ligation-dependent probe amplification analysis, and we provide a mutation update for the fructose bisphosphatase-1 gene (FBP1). 27101822 2016
CUI: C0016756
Disease: Fructose-1,6-Diphosphatase Deficiency
Fructose-1,6-Diphosphatase Deficiency 		0.730 GeneticVariation disease UNIPROT Fructose 1,6-bisphosphatase deficiency: clinical, biochemical and genetic features in French patients. 25601412 2015
CUI: C0016756
Disease: Fructose-1,6-Diphosphatase Deficiency
Fructose-1,6-Diphosphatase Deficiency 		0.730 CausalMutation disease CLINVAR Fructose 1,6-bisphosphatase deficiency: clinical, biochemical and genetic features in French patients. 25601412 2015
CUI: C0016756
Disease: Fructose-1,6-Diphosphatase Deficiency
Fructose-1,6-Diphosphatase Deficiency 		0.730 CausalMutation disease CLINVAR Transient pseudo-hypertriglyceridemia: a useful biochemical marker of fructose-1,6-bisphosphatase deficiency. 23881342 2013
CUI: C0016756
Disease: Fructose-1,6-Diphosphatase Deficiency
Fructose-1,6-Diphosphatase Deficiency 		0.730 GermlineCausalMutation disease ORPHANET Novel fructose-1,6-bisphosphatase gene mutation in two siblings. 24007283 2013
CUI: C0016756
Disease: Fructose-1,6-Diphosphatase Deficiency
Fructose-1,6-Diphosphatase Deficiency 		0.730 CausalMutation disease CLINVAR Novel compound heterozygous mutations in the fructose-1,6-bisphosphatase gene cause hypoglycemia and lactic acidosis. 20096900 2011
CUI: C0016756
Disease: Fructose-1,6-Diphosphatase Deficiency
Fructose-1,6-Diphosphatase Deficiency 		0.730 GeneticVariation disease BEFREE Novel FBP1 gene mutations in Arab patients with fructose-1,6-bisphosphatase deficiency. 19259699 2009
CUI: C0016756
Disease: Fructose-1,6-Diphosphatase Deficiency
Fructose-1,6-Diphosphatase Deficiency 		0.730 GermlineCausalMutation disease ORPHANET Two newly identified genomic mutations in a Japanese female patient with fructose-1,6-bisphosphatase (FBPase) deficiency. 12126934 2002
CUI: C0016756
Disease: Fructose-1,6-Diphosphatase Deficiency
Fructose-1,6-Diphosphatase Deficiency 		0.730 GeneticVariation disease UNIPROT Two newly identified genomic mutations in a Japanese female patient with fructose-1,6-bisphosphatase (FBPase) deficiency. 12126934 2002
CUI: C0016756
Disease: Fructose-1,6-Diphosphatase Deficiency
Fructose-1,6-Diphosphatase Deficiency 		0.730 CausalMutation disease CLINVAR Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency. 9382095 1997
CUI: C0016756
Disease: Fructose-1,6-Diphosphatase Deficiency
Fructose-1,6-Diphosphatase Deficiency 		0.730 GeneticVariation disease UNIPROT Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency. 9382095 1997
CUI: C0016756
Disease: Fructose-1,6-Diphosphatase Deficiency
Fructose-1,6-Diphosphatase Deficiency 		0.730 GermlineCausalMutation disease ORPHANET Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency. 9382095 1997
CUI: C0016756
Disease: Fructose-1,6-Diphosphatase Deficiency
Fructose-1,6-Diphosphatase Deficiency 		0.730 Biomarker disease CTD_human Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency. 9382095 1997
CUI: C0016756
Disease: Fructose-1,6-Diphosphatase Deficiency
Fructose-1,6-Diphosphatase Deficiency 		0.730 Biomarker disease GENOMICS_ENGLAND Identification of a genetic mutation in a family with fructose-1,6- bisphosphatase deficiency. 7763253 1995
CUI: C0016756
Disease: Fructose-1,6-Diphosphatase Deficiency
Fructose-1,6-Diphosphatase Deficiency 		0.730 GeneticVariation disease BEFREE FBP1 was screened for mutations in two subjects with fructose-1,6-bisphosphatase deficiency. 7558035 1995
CUI: C0016756
Disease: Fructose-1,6-Diphosphatase Deficiency
Fructose-1,6-Diphosphatase Deficiency 		0.730 GeneticVariation disease CLINVAR
CUI: C0016756
Disease: Fructose-1,6-Diphosphatase Deficiency
Fructose-1,6-Diphosphatase Deficiency 		0.730 Biomarker disease GENOMICS_ENGLAND
CUI: C0016756
Disease: Fructose-1,6-Diphosphatase Deficiency
Fructose-1,6-Diphosphatase Deficiency 		0.730 Biomarker disease GENOMICS_ENGLAND
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.400 Biomarker disease BEFREE In depth mechanism analysis demonstrated that HSF2 promoted cell proliferation via positive regulation of aerobic glycolysis, and HSF2 interacted with euchromatic histone lysine methyltransferase 2 (EHMT2) to epigenetically silence fructose-bisphosphatase 1 (FBP1), which is a tumor suppressor and negative regulator of aerobic glycolysis in HCC. 31497345 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.400 Biomarker disease BEFREE The expression of the metabolic tumor suppressor gene fructose-1,6-bisphosphatase (FBP1), epigenetically repressed in HCC, was restored by CM-272. 30014490 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.400 Biomarker disease BEFREE In conclusion, our study revealed a vital role for FBP1 in Snail-induced EMT and prognostic prediction in HCC. 30429463 2018
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.400 AlteredExpression disease BEFREE Here we report that the human FBP1 gene is regulated by two liver-enriched transcription factors, CCAAT-enhancer binding protein-α (C/EBPα) and hepatocyte nuclear factor 4α (HNF4α) in human hepatoma HepG2 cells. 29566023 2018