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: rs1554702442
rs1554702442
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB
CUI: C0016751
Disease:
Hereditary fructose intolerance syndrome 		0.700 GeneticVariation UNIPROT Hereditary fructose intolerance: functional study of two novel ALDOB natural variants and characterization of a partial gene deletion. 20848650 2010
dbSNP: rs1554702442
rs1554702442
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB
CUI: C0016751
Disease:
Hereditary fructose intolerance syndrome 		0.700 GeneticVariation UNIPROT The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe. 15880727 2005
dbSNP: rs1554702442
rs1554702442
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB
CUI: C0016751
Disease:
Hereditary fructose intolerance syndrome 		0.700 GeneticVariation UNIPROT Six novel alleles identified in Italian hereditary fructose intolerance patients enlarge the mutation spectrum of the aldolase B gene. 15532022 2004
dbSNP: rs1554702442
rs1554702442
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB
CUI: C0016751
Disease:
Hereditary fructose intolerance syndrome 		0.700 GeneticVariation UNIPROT Molecular analysis of the aldolase B gene in patients with hereditary fructose intolerance from Spain. 12205126 2002
dbSNP: rs1554702442
rs1554702442
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB
CUI: C0016751
Disease:
Hereditary fructose intolerance syndrome 		0.700 GeneticVariation UNIPROT Functional and molecular modelling studies of two hereditary fructose intolerance-causing mutations at arginine 303 in human liver aldolase. 10970798 2000
dbSNP: rs1554702442
rs1554702442
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB
CUI: C0016751
Disease:
Hereditary fructose intolerance syndrome 		0.700 GeneticVariation UNIPROT Screening for hereditary fructose intolerance mutations by reverse dot-blot. 10024431 1999
dbSNP: rs1554702442
rs1554702442
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB
CUI: C0016751
Disease:
Hereditary fructose intolerance syndrome 		0.700 GeneticVariation UNIPROT Identification of a novel mutation (Leu 256-->Pro) in the human aldolase B gene associated with hereditary fructose intolerance. 8162030 1994
dbSNP: rs1554702442
rs1554702442
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB
CUI: C0016751
Disease:
Hereditary fructose intolerance syndrome 		0.700 GeneticVariation UNIPROT A partially active mutant aldolase B from a patient with hereditary fructose intolerance. 8299883 1994
dbSNP: rs1554702442
rs1554702442
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB
CUI: C0016751
Disease:
Hereditary fructose intolerance syndrome 		0.700 GeneticVariation UNIPROT Molecular analysis of aldolase B genes in hereditary fructose intolerance. 1967768 1990
dbSNP: rs1554702442
rs1554702442
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB
CUI: C0016751
Disease:
Hereditary fructose intolerance syndrome 		0.700 GeneticVariation UNIPROT A new aldolase B variant, N334K, is a common cause of hereditary fructose intolerance in Yugoslavia. 2336380 1990
dbSNP: rs1554702442
rs1554702442
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB
CUI: C0016751
Disease:
Hereditary fructose intolerance syndrome 		0.700 GeneticVariation UNIPROT Catalytic deficiency of human aldolase B in hereditary fructose intolerance caused by a common missense mutation. 3383242 1988