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: rs369586696
rs369586696
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB
CUI: C0016751
Disease:
Hereditary fructose intolerance syndrome 		0.710 GeneticVariation UNIPROT Here we report two novel ALDOB variants (p.R46W and p.Y343H) and an intragenic deletion that we found in patients with suspected HFI. 20848650 2010
dbSNP: rs369586696
rs369586696
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB
CUI: C0016751
Disease:
Hereditary fructose intolerance syndrome 		0.710 GeneticVariation BEFREE Here we report two novel ALDOB variants (p.R46W and p.Y343H) and an intragenic deletion that we found in patients with suspected HFI. 20848650 2010
dbSNP: rs369586696
rs369586696
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB
CUI: C0016751
Disease:
Hereditary fructose intolerance syndrome 		0.710 GeneticVariation UNIPROT The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe. 15880727 2005
dbSNP: rs369586696
rs369586696
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB
CUI: C0016751
Disease:
Hereditary fructose intolerance syndrome 		0.710 GeneticVariation UNIPROT Six novel alleles identified in Italian hereditary fructose intolerance patients enlarge the mutation spectrum of the aldolase B gene. 15532022 2004
dbSNP: rs369586696
rs369586696
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB
CUI: C0016751
Disease:
Hereditary fructose intolerance syndrome 		0.710 GeneticVariation UNIPROT Molecular analysis of the aldolase B gene in patients with hereditary fructose intolerance from Spain. 12205126 2002
dbSNP: rs369586696
rs369586696
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB
CUI: C0016751
Disease:
Hereditary fructose intolerance syndrome 		0.710 GeneticVariation UNIPROT Functional and molecular modelling studies of two hereditary fructose intolerance-causing mutations at arginine 303 in human liver aldolase. 10970798 2000
dbSNP: rs369586696
rs369586696
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB
CUI: C0016751
Disease:
Hereditary fructose intolerance syndrome 		0.710 GeneticVariation UNIPROT Screening for hereditary fructose intolerance mutations by reverse dot-blot. 10024431 1999
dbSNP: rs369586696
rs369586696
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB
CUI: C0016751
Disease:
Hereditary fructose intolerance syndrome 		0.710 GeneticVariation UNIPROT Identification of a novel mutation (Leu 256-->Pro) in the human aldolase B gene associated with hereditary fructose intolerance. 8162030 1994
dbSNP: rs369586696
rs369586696
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB
CUI: C0016751
Disease:
Hereditary fructose intolerance syndrome 		0.710 GeneticVariation UNIPROT A partially active mutant aldolase B from a patient with hereditary fructose intolerance. 8299883 1994
dbSNP: rs369586696
rs369586696
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB
CUI: C0016751
Disease:
Hereditary fructose intolerance syndrome 		0.710 GeneticVariation UNIPROT A new aldolase B variant, N334K, is a common cause of hereditary fructose intolerance in Yugoslavia. 2336380 1990
dbSNP: rs369586696
rs369586696
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB
CUI: C0016751
Disease:
Hereditary fructose intolerance syndrome 		0.710 GeneticVariation UNIPROT Molecular analysis of aldolase B genes in hereditary fructose intolerance. 1967768 1990
dbSNP: rs369586696
rs369586696
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB
CUI: C0016751
Disease:
Hereditary fructose intolerance syndrome 		0.710 GeneticVariation UNIPROT Catalytic deficiency of human aldolase B in hereditary fructose intolerance caused by a common missense mutation. 3383242 1988