ALDOB, aldolase, fructose-bisphosphate B, 229

N. diseases: 80; N. variants: 46
Disease: Hereditary fructose intolerance syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1800546
rs1800546
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB
CUI: C0016751
Disease:
Hereditary fructose intolerance syndrome 		G 0.700 CausalMutation CLINVAR Hereditary fructose intolerance mimicking a biochemical phenotype of mucolipidosis: A review of the literature of secondary causes of lysosomal enzyme activity elevation in serum. 27797444 2017
dbSNP: rs1800546
rs1800546
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB
CUI: C0016751
Disease:
Hereditary fructose intolerance syndrome 		G 0.700 CausalMutation CLINVAR Hereditary fructose intolerance in Brazilian patients. 26937407 2015
dbSNP: rs1800546
rs1800546
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB
CUI: C0016751
Disease:
Hereditary fructose intolerance syndrome 		G 0.700 CausalMutation CLINVAR Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose Intolerance. 23430936 2012
dbSNP: rs1800546
rs1800546
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB
CUI: C0016751
Disease:
Hereditary fructose intolerance syndrome 		G 0.700 CausalMutation CLINVAR Increased prevalence of mutant null alleles that cause hereditary fructose intolerance in the American population. 20033295 2010
dbSNP: rs1800546
rs1800546
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB
CUI: C0016751
Disease:
Hereditary fructose intolerance syndrome 		G 0.700 CausalMutation CLINVAR Subsequently, an aversion to fruits suggested HFI, confirmed by the finding of ALDOB mutations (p.A150P/p.N335K). 19768653 2009
dbSNP: rs1800546
rs1800546
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB
CUI: C0016751
Disease:
Hereditary fructose intolerance syndrome 		G 0.700 CausalMutation CLINVAR Hereditary fructose intolerance: frequency and spectrum mutations of the aldolase B gene in a large patients cohort from France--identification of eight new mutations. 18541450 2008
dbSNP: rs1800546
rs1800546
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB
CUI: C0016751
Disease:
Hereditary fructose intolerance syndrome 		G 0.700 CausalMutation CLINVAR Aldolase B mutations and prevalence of hereditary fructose intolerance in a Polish population. 16406649 2006
dbSNP: rs1800546
rs1800546
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB
CUI: C0016751
Disease:
Hereditary fructose intolerance syndrome 		G 0.700 CausalMutation CLINVAR Structure of the thermolabile mutant aldolase B, A149P: molecular basis of hereditary fructose intolerance. 15733923 2005
dbSNP: rs1800546
rs1800546
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB
CUI: C0016751
Disease:
Hereditary fructose intolerance syndrome 		G 0.700 CausalMutation CLINVAR The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe. 15880727 2005
dbSNP: rs1800546
rs1800546
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB
CUI: C0016751
Disease:
Hereditary fructose intolerance syndrome 		G 0.700 CausalMutation CLINVAR The temperature dependence of activity and structure for the most prevalent mutant aldolase B associated with hereditary fructose intolerance. 12464284 2002
dbSNP: rs1800546
rs1800546
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB
CUI: C0016751
Disease:
Hereditary fructose intolerance syndrome 		G 0.700 CausalMutation CLINVAR Molecular analysis of the aldolase B gene in patients with hereditary fructose intolerance from Spain. 12205126 2002
dbSNP: rs1800546
rs1800546
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB
CUI: C0016751
Disease:
Hereditary fructose intolerance syndrome 		G 0.700 CausalMutation CLINVAR Structural and functional analysis of aldolase B mutants related to hereditary fructose intolerance. 12417303 2002
dbSNP: rs1800546
rs1800546
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB
CUI: C0016751
Disease:
Hereditary fructose intolerance syndrome 		G 0.700 CausalMutation CLINVAR Mutation analysis in Turkish patients with hereditary fructose intolerance. 11757579 2001
dbSNP: rs1800546
rs1800546
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB
CUI: C0016751
Disease:
Hereditary fructose intolerance syndrome 		G 0.700 CausalMutation CLINVAR Association of the widespread A149P hereditary fructose intolerance mutation with newly identified sequence polymorphisms in the aldolase B gene. 8096362 1993
dbSNP: rs1800546
rs1800546
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB
CUI: C0016751
Disease:
Hereditary fructose intolerance syndrome 		G 0.700 CausalMutation CLINVAR Catalytic deficiency of human aldolase B in hereditary fructose intolerance caused by a common missense mutation. 3383242 1988
dbSNP: rs1800546
rs1800546
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB
CUI: C0016751
Disease:
Hereditary fructose intolerance syndrome 		G 0.700 CausalMutation CLINVAR Isolation and characterization of a mutant liver aldolase in adult hereditary fructose intolerance. Identification of the enzyme variant by radioassay in tissue biopsy specimens. 6348085 1983