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: rs145078268
rs145078268
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB
CUI: C0016751
Disease:
Hereditary fructose intolerance syndrome 		T 0.700 GeneticVariation CLINVAR An informatics approach to analyzing the incidentalome. 22995991 2013
dbSNP: rs145078268
rs145078268
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB
CUI: C0016751
Disease:
Hereditary fructose intolerance syndrome 		T 0.700 GeneticVariation CLINVAR Carrier testing for severe childhood recessive diseases by next-generation sequencing. 21228398 2011
dbSNP: rs145078268
rs145078268
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB
CUI: C0016751
Disease:
Hereditary fructose intolerance syndrome 		T 0.700 GeneticVariation CLINVAR Functional and molecular modelling studies of two hereditary fructose intolerance-causing mutations at arginine 303 in human liver aldolase. 10970798 2000