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: rs566453434
rs566453434
Entrez Id: 2203;101928099
Gene Symbol: FBP1;PCAT7
FBP1;PCAT7
CUI: C0016756
Disease:
Fructose-1,6-Diphosphatase Deficiency 		T 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
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
rs566453434
Entrez Id: 2203;101928099
Gene Symbol: FBP1;PCAT7
FBP1;PCAT7
CUI: C0016756
Disease:
Fructose-1,6-Diphosphatase Deficiency 		T 0.710 CausalMutation CLINVAR Genetic analysis of fructose-1,6-bisphosphatase (FBPase) deficiency in nine consanguineous Pakistani families. 29016355 2017
dbSNP: rs566453434
rs566453434
Entrez Id: 2203;101928099
Gene Symbol: FBP1;PCAT7
FBP1;PCAT7
CUI: C0016756
Disease:
Fructose-1,6-Diphosphatase Deficiency 		T 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
dbSNP: rs566453434
rs566453434
Entrez Id: 2203;101928099
Gene Symbol: FBP1;PCAT7
FBP1;PCAT7
CUI: C0016756
Disease:
Fructose-1,6-Diphosphatase Deficiency 		T 0.710 CausalMutation CLINVAR Transient pseudo-hypertriglyceridemia: a useful biochemical marker of fructose-1,6-bisphosphatase deficiency. 23881342 2013
dbSNP: rs566453434
rs566453434
Entrez Id: 2203;101928099
Gene Symbol: FBP1;PCAT7
FBP1;PCAT7
CUI: C0016756
Disease:
Fructose-1,6-Diphosphatase Deficiency 		A 0.710 CausalMutation CLINVAR