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 AlteredExpression disease BEFREE 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 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 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
CUI: C0016751
Disease: Hereditary fructose intolerance syndrome
Hereditary fructose intolerance syndrome 		0.770 GeneticVariation 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 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 GeneticVariation disease CLINVAR Aldolase B and fructose intolerance. 8299892 1994
CUI: C0016751
Disease: Hereditary fructose intolerance syndrome
Hereditary fructose intolerance syndrome 		0.770 CausalMutation disease CLINVAR Aldolase B mutations and prevalence of hereditary fructose intolerance in a Polish population. 16406649 2006
CUI: C0016751
Disease: Hereditary fructose intolerance syndrome
Hereditary fructose intolerance syndrome 		0.770 GeneticVariation disease CLINVAR Aldolase B mutations and prevalence of hereditary fructose intolerance in a Polish population. 16406649 2006
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 CLINVAR Alteration of substrate specificity by a naturally-occurring aldolase B mutation (Ala337-->Val) in fructose intolerance. 10229688 1999
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 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 Carrier testing for severe childhood recessive diseases by next-generation sequencing. 21228398 2011
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 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 CLINVAR Diverse mutations in the aldolase B gene that underlie the prevalence of hereditary fructose intolerance. 7717389 1995