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 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 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 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 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 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 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 GeneticVariation 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 LHGDN 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 GeneticVariation disease LHGDN 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 GeneticVariation disease UNIPROT Screening for hereditary fructose intolerance mutations by reverse dot-blot. 10024431 1999
CUI: C0016751
Disease: Hereditary fructose intolerance syndrome
Hereditary fructose intolerance syndrome 		0.770 GeneticVariation disease UNIPROT Hereditary fructose intolerance: functional study of two novel ALDOB natural variants and characterization of a partial gene deletion. 20848650 2010
CUI: C0016751
Disease: Hereditary fructose intolerance syndrome
Hereditary fructose intolerance syndrome 		0.770 GeneticVariation disease CLINVAR An informatics approach to analyzing the incidentalome. 22995991 2013
CUI: C0016751
Disease: Hereditary fructose intolerance syndrome
Hereditary fructose intolerance syndrome 		0.770 GeneticVariation disease CLINVAR Hereditary fructose intolerance: functional study of two novel ALDOB natural variants and characterization of a partial gene deletion. 20848650 2010
CUI: C0016751
Disease: Hereditary fructose intolerance syndrome
Hereditary fructose intolerance syndrome 		0.770 GeneticVariation disease CLINVAR Screening for hereditary fructose intolerance mutations by reverse dot-blot. 10024431 1999
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 GeneticVariation disease UNIPROT Molecular analysis of the aldolase B gene in patients with hereditary fructose intolerance from Spain. 12205126 2002
CUI: C0016751
Disease: Hereditary fructose intolerance syndrome
Hereditary fructose intolerance syndrome 		0.770 GeneticVariation disease CLINVAR Hereditary fructose intolerance and celiac disease: a novel genetic association. 16630753 2006
CUI: C0016751
Disease: Hereditary fructose intolerance syndrome
Hereditary fructose intolerance syndrome 		0.770 GeneticVariation disease LHGDN 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 GeneticVariation disease UNIPROT 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 CLINVAR Molecular basis of hereditary fructose intolerance in Italy: identification of two novel mutations in the aldolase B gene. 8880583 1996