ALDOB, aldolase, fructose-bisphosphate B, 229

N. diseases: 80; N. variants: 46
Disease: Disorder of carbohydrate metabolism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0149670
Disease: Disorder of carbohydrate metabolism
Disorder of carbohydrate metabolism 		0.010 AlteredExpression group 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