ALDOB, aldolase, fructose-bisphosphate B, 229

N. diseases: 80; N. variants: 46
Disease: Hereditary fructose intolerance syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0016751
Disease: Hereditary fructose intolerance syndrome
Hereditary fructose intolerance syndrome 		0.770 Biomarker disease GENOMICS_ENGLAND
CUI: C0016751
Disease: Hereditary fructose intolerance syndrome
Hereditary fructose intolerance syndrome 		0.770 Biomarker disease HPO
CUI: C0016751
Disease: Hereditary fructose intolerance syndrome
Hereditary fructose intolerance syndrome 		0.770 Biomarker disease GENOMICS_ENGLAND
CUI: C0016751
Disease: Hereditary fructose intolerance syndrome
Hereditary fructose intolerance syndrome 		0.770 GeneticVariation disease CLINVAR Aldolase B mutations in Italian families affected by hereditary fructose intolerance. 1856829 1991
CUI: C0016751
Disease: Hereditary fructose intolerance syndrome
Hereditary fructose intolerance syndrome 		0.770 GeneticVariation disease UNIPROT Molecular analysis of aldolase B genes in hereditary fructose intolerance. 1967768 1990
CUI: C0016751
Disease: Hereditary fructose intolerance syndrome
Hereditary fructose intolerance syndrome 		0.770 CausalMutation disease CLINVAR Molecular analysis of aldolase B genes in hereditary fructose intolerance. 1967768 1990
CUI: C0016751
Disease: Hereditary fructose intolerance syndrome
Hereditary fructose intolerance syndrome 		0.770 GeneticVariation disease CLINVAR A new aldolase B variant, N334K, is a common cause of hereditary fructose intolerance in Yugoslavia. 2336380 1990
CUI: C0016751
Disease: Hereditary fructose intolerance syndrome
Hereditary fructose intolerance syndrome 		0.770 CausalMutation disease CLINVAR A new aldolase B variant, N334K, is a common cause of hereditary fructose intolerance in Yugoslavia. 2336380 1990
CUI: C0016751
Disease: Hereditary fructose intolerance syndrome
Hereditary fructose intolerance syndrome 		0.770 GeneticVariation disease UNIPROT A new aldolase B variant, N334K, is a common cause of hereditary fructose intolerance in Yugoslavia. 2336380 1990
CUI: C0016751
Disease: Hereditary fructose intolerance syndrome
Hereditary fructose intolerance syndrome 		0.770 CausalMutation disease CLINVAR Molecular evidence for compound heterozygosity in hereditary fructose intolerance. 2339710 1990
CUI: C0016751
Disease: Hereditary fructose intolerance syndrome
Hereditary fructose intolerance syndrome 		0.770 GeneticVariation disease CLINVAR Molecular evidence for compound heterozygosity in hereditary fructose intolerance. 2339710 1990
CUI: C0016751
Disease: Hereditary fructose intolerance syndrome
Hereditary fructose intolerance syndrome 		0.770 GeneticVariation disease CLINVAR Partial aldolase B gene deletions in hereditary fructose intolerance. 2349937 1990
CUI: C0016751
Disease: Hereditary fructose intolerance syndrome
Hereditary fructose intolerance syndrome 		0.770 Biomarker disease CTD_human Catalytic deficiency of human aldolase B in hereditary fructose intolerance caused by a common missense mutation. 3383242 1988
CUI: C0016751
Disease: Hereditary fructose intolerance syndrome
Hereditary fructose intolerance syndrome 		0.770 CausalMutation disease CLINVAR Catalytic deficiency of human aldolase B in hereditary fructose intolerance caused by a common missense mutation. 3383242 1988
CUI: C0016751
Disease: Hereditary fructose intolerance syndrome
Hereditary fructose intolerance syndrome 		0.770 GeneticVariation disease UNIPROT Catalytic deficiency of human aldolase B in hereditary fructose intolerance caused by a common missense mutation. 3383242 1988
CUI: C0016751
Disease: Hereditary fructose intolerance syndrome
Hereditary fructose intolerance syndrome 		0.770 Biomarker disease GENOMICS_ENGLAND Catalytic deficiency of human aldolase B in hereditary fructose intolerance caused by a common missense mutation. 3383242 1988
CUI: C0016751
Disease: Hereditary fructose intolerance syndrome
Hereditary fructose intolerance syndrome 		0.770 CausalMutation disease 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
CUI: C0016751
Disease: Hereditary fructose intolerance syndrome
Hereditary fructose intolerance syndrome 		0.770 GeneticVariation disease CLINVAR Diverse mutations in the aldolase B gene that underlie the prevalence of hereditary fructose intolerance. 7717389 1995
CUI: C0016751
Disease: Hereditary fructose intolerance syndrome
Hereditary fructose intolerance syndrome 		0.770 GeneticVariation disease CLINVAR Null alleles of the aldolase B gene in patients with hereditary fructose intolerance. 8071980 1994
CUI: C0016751
Disease: Hereditary fructose intolerance syndrome
Hereditary fructose intolerance syndrome 		0.770 CausalMutation disease CLINVAR Null alleles of the aldolase B gene in patients with hereditary fructose intolerance. 8071980 1994
CUI: C0016751
Disease: Hereditary fructose intolerance syndrome
Hereditary fructose intolerance syndrome 		0.770 CausalMutation disease CLINVAR Association of the widespread A149P hereditary fructose intolerance mutation with newly identified sequence polymorphisms in the aldolase B gene. 8096362 1993
CUI: C0016751
Disease: Hereditary fructose intolerance syndrome
Hereditary fructose intolerance syndrome 		0.770 GeneticVariation disease UNIPROT Identification of a novel mutation (Leu 256-->Pro) in the human aldolase B gene associated with hereditary fructose intolerance. 8162030 1994
CUI: C0016751
Disease: Hereditary fructose intolerance syndrome
Hereditary fructose intolerance syndrome 		0.770 GeneticVariation disease CLINVAR The molecular basis of hereditary fructose intolerance in Italian children. 8292669 1993
CUI: C0016751
Disease: Hereditary fructose intolerance syndrome
Hereditary fructose intolerance syndrome 		0.770 CausalMutation disease CLINVAR A partially active mutant aldolase B from a patient with hereditary fructose intolerance. 8299883 1994
CUI: C0016751
Disease: Hereditary fructose intolerance syndrome
Hereditary fructose intolerance syndrome 		0.770 GeneticVariation disease UNIPROT A partially active mutant aldolase B from a patient with hereditary fructose intolerance. 8299883 1994