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 GeneticVariation disease CLINVAR Structural and functional analysis of aldolase B mutants related to hereditary fructose intolerance. 12417303 2002
CUI: C0016751
Disease: Hereditary fructose intolerance syndrome
Hereditary fructose intolerance syndrome 		0.770 Biomarker disease CTD_human Doctor, my son is so tired... about a case of hereditary fructose intolerance. 18035330 2007
CUI: C0016751
Disease: Hereditary fructose intolerance syndrome
Hereditary fructose intolerance syndrome 		0.770 GeneticVariation disease CLINVAR Sixteen different mutations of the aldolase B (ALDOB) gene were identified in HFI patients. 18541450 2008
CUI: C0016751
Disease: Hereditary fructose intolerance syndrome
Hereditary fructose intolerance syndrome 		0.770 CausalMutation disease CLINVAR Structural and functional analysis of aldolase B mutants related to hereditary fructose intolerance. 12417303 2002
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 GeneticVariation disease UNIPROT Functional and molecular modelling studies of two hereditary fructose intolerance-causing mutations at arginine 303 in human liver aldolase. 10970798 2000
CUI: C0016751
Disease: Hereditary fructose intolerance syndrome
Hereditary fructose intolerance syndrome 		0.770 CausalMutation disease CLINVAR Hereditary fructose intolerance in Brazilian patients. 26937407 2015
CUI: C0016751
Disease: Hereditary fructose intolerance syndrome
Hereditary fructose intolerance syndrome 		0.770 CausalMutation disease CLINVAR Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose Intolerance. 23430936 2012
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 GeneticVariation disease CLINVAR Clinical and genetic analysis for a Chinese family with hereditary fructose intolerance. 17955389 2007
CUI: C0016751
Disease: Hereditary fructose intolerance syndrome
Hereditary fructose intolerance syndrome 		0.770 GeneticVariation disease LHGDN The presented data also emphasize the usefulness of ALDOB mutation screening for diagnosis of HFI. 17457694 2007
CUI: C0016751
Disease: Hereditary fructose intolerance syndrome
Hereditary fructose intolerance syndrome 		0.770 GeneticVariation disease CLINVAR Mutation analysis in Turkish patients with hereditary fructose intolerance. 11757579 2001
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 CLINVAR Hereditary fructose intolerance (HFI) is a recessively inherited disorder of carbohydrate metabolism caused by impaired functioning of human liver aldolase (B isoform; ALDOB). 15532022 2004
CUI: C0016751
Disease: Hereditary fructose intolerance syndrome
Hereditary fructose intolerance syndrome 		0.770 Biomarker disease CTD_human Structure of the thermolabile mutant aldolase B, A149P: molecular basis of hereditary fructose intolerance. 15733923 2005
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 CausalMutation disease CLINVAR Fifteen different mutations of the aldolase B (ALDOB) gene were identified in HFI patients. 15880727 2005
CUI: C0016751
Disease: Hereditary fructose intolerance syndrome
Hereditary fructose intolerance syndrome 		0.770 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C0016751
Disease: Hereditary fructose intolerance syndrome
Hereditary fructose intolerance syndrome 		0.770 CausalMutation disease CLINVAR The temperature dependence of activity and structure for the most prevalent mutant aldolase B associated with hereditary fructose intolerance. 12464284 2002
CUI: C0016751
Disease: Hereditary fructose intolerance syndrome
Hereditary fructose intolerance syndrome 		0.770 GeneticVariation disease CLINVAR Molecular Diagnosis of Hereditary Fructose Intolerance: Founder Mutation in a Community from India. 25595217 2015
CUI: C0016751
Disease: Hereditary fructose intolerance syndrome
Hereditary fructose intolerance syndrome 		0.770 GeneticVariation disease CLINVAR Mutations in the promoter region of the aldolase B gene that cause hereditary fructose intolerance. 20882353 2010
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 Biomarker disease GENOMICS_ENGLAND
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