ALDOB, aldolase, fructose-bisphosphate B, 229

N. diseases: 80; N. variants: 46
Disease: Hereditary fructose intolerance syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs864309533
rs864309533
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB
CUI: C0016751
Disease:
Hereditary fructose intolerance syndrome 		A 0.700 CausalMutation CLINVAR The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe. 15880727 2005