FBP1, fructose-bisphosphatase 1, 2203

N. diseases: 125; N. variants: 18
Disease: Fructose-1,6-Diphosphatase Deficiency ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918188
rs121918188
Entrez Id: 2203
Gene Symbol: FBP1
FBP1
CUI: C0016756
Disease:
Fructose-1,6-Diphosphatase Deficiency 		T 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
rs121918188
Entrez Id: 2203
Gene Symbol: FBP1
FBP1
CUI: C0016756
Disease:
Fructose-1,6-Diphosphatase Deficiency 		T 0.800 CausalMutation CLINVAR Fructose 1,6-bisphosphatase deficiency: clinical, biochemical and genetic features in French patients. 25601412 2015
dbSNP: rs121918188
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: rs121918188
rs121918188
Entrez Id: 2203
Gene Symbol: FBP1
FBP1
CUI: C0016756
Disease:
Fructose-1,6-Diphosphatase Deficiency 		T 0.800 CausalMutation CLINVAR Novel compound heterozygous mutations in the fructose-1,6-bisphosphatase gene cause hypoglycemia and lactic acidosis. 20096900 2011
dbSNP: rs121918188
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: rs121918188
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
rs121918188
Entrez Id: 2203
Gene Symbol: FBP1
FBP1
CUI: C0016756
Disease:
Fructose-1,6-Diphosphatase Deficiency 		T 0.800 CausalMutation CLINVAR Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency. 9382095 1997