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: rs118204429
rs118204429
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB
CUI: C0016751
Disease:
Hereditary fructose intolerance syndrome 		A 0.700 CausalMutation CLINVAR Hereditary fructose intolerance in Brazilian patients. 26937407 2015
dbSNP: rs118204429
rs118204429
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB
CUI: C0016751
Disease:
Hereditary fructose intolerance syndrome 		A 0.700 GeneticVariation CLINVAR Increased prevalence of mutant null alleles that cause hereditary fructose intolerance in the American population. 20033295 2010
dbSNP: rs118204429
rs118204429
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB
CUI: C0016751
Disease:
Hereditary fructose intolerance syndrome 		A 0.700 CausalMutation CLINVAR Hereditary fructose intolerance: frequency and spectrum mutations of the aldolase B gene in a large patients cohort from France--identification of eight new mutations. 18541450 2008
dbSNP: rs118204429
rs118204429
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB
CUI: C0016751
Disease:
Hereditary fructose intolerance syndrome 		A 0.700 GeneticVariation CLINVAR Hereditary fructose intolerance: frequency and spectrum mutations of the aldolase B gene in a large patients cohort from France--identification of eight new mutations. 18541450 2008
dbSNP: rs118204429
rs118204429
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
dbSNP: rs118204429
rs118204429
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB
CUI: C0016751
Disease:
Hereditary fructose intolerance syndrome 		A 0.700 GeneticVariation CLINVAR The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe. 15880727 2005
dbSNP: rs118204429
rs118204429
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB
CUI: C0016751
Disease:
Hereditary fructose intolerance syndrome 		A 0.700 GeneticVariation CLINVAR A partially active mutant aldolase B from a patient with hereditary fructose intolerance. 8299883 1994
dbSNP: rs118204429
rs118204429
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB
CUI: C0016751
Disease:
Hereditary fructose intolerance syndrome 		A 0.700 CausalMutation CLINVAR Null alleles of the aldolase B gene in patients with hereditary fructose intolerance. 8071980 1994
dbSNP: rs118204429
rs118204429
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB
CUI: C0016751
Disease:
Hereditary fructose intolerance syndrome 		A 0.700 CausalMutation CLINVAR A partially active mutant aldolase B from a patient with hereditary fructose intolerance. 8299883 1994
dbSNP: rs118204429
rs118204429
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB
CUI: C0016751
Disease:
Hereditary fructose intolerance syndrome 		A 0.700 GeneticVariation CLINVAR Aldolase B and fructose intolerance. 8299892 1994
dbSNP: rs118204429
rs118204429
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB
CUI: C0016751
Disease:
Hereditary fructose intolerance syndrome 		A 0.700 GeneticVariation CLINVAR Null alleles of the aldolase B gene in patients with hereditary fructose intolerance. 8071980 1994