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: rs181639417
rs181639417
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB
CUI: C0016751
Disease:
Hereditary fructose intolerance syndrome 		G 0.700 GeneticVariation CLINVAR Mutations in the promoter region of the aldolase B gene that cause hereditary fructose intolerance. 20882353 2010
dbSNP: rs181639417
rs181639417
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB
CUI: C0016751
Disease:
Hereditary fructose intolerance syndrome 		G 0.700 CausalMutation CLINVAR Mutations in the promoter region of the aldolase B gene that cause hereditary fructose intolerance. 20882353 2010