FBP1, fructose-bisphosphatase 1, 2203

N. diseases: 125; N. variants: 18
Disease: Fructose-1,6-Diphosphatase Deficiency ×
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