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: rs76917243
rs76917243
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB
CUI: C0016751
Disease:
Hereditary fructose intolerance syndrome 		T 0.700 CausalMutation CLINVAR Hereditary fructose intolerance in Brazilian patients. 26937407 2015
dbSNP: rs76917243
rs76917243
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB
CUI: C0016751
Disease:
Hereditary fructose intolerance syndrome 		T 0.700 CausalMutation CLINVAR Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose Intolerance. 23430936 2012
dbSNP: rs76917243
rs76917243
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB
CUI: C0016751
Disease:
Hereditary fructose intolerance syndrome 		T 0.700 CausalMutation CLINVAR Increased prevalence of mutant null alleles that cause hereditary fructose intolerance in the American population. 20033295 2010
dbSNP: rs76917243
rs76917243
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB
CUI: C0016751
Disease:
Hereditary fructose intolerance syndrome 		T 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: rs76917243
rs76917243
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB
CUI: C0016751
Disease:
Hereditary fructose intolerance syndrome 		T 0.700 CausalMutation CLINVAR The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe. 15880727 2005
dbSNP: rs76917243
rs76917243
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB
CUI: C0016751
Disease:
Hereditary fructose intolerance syndrome 		T 0.700 CausalMutation CLINVAR Structural and functional analysis of aldolase B mutants related to hereditary fructose intolerance. 12417303 2002
dbSNP: rs76917243
rs76917243
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB
CUI: C0016751
Disease:
Hereditary fructose intolerance syndrome 		T 0.700 CausalMutation CLINVAR Molecular analysis of the aldolase B gene in patients with hereditary fructose intolerance from Spain. 12205126 2002
dbSNP: rs76917243
rs76917243
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB
CUI: C0016751
Disease:
Hereditary fructose intolerance syndrome 		T 0.700 CausalMutation CLINVAR Mutation analysis in Turkish patients with hereditary fructose intolerance. 11757579 2001
dbSNP: rs76917243
rs76917243
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB
CUI: C0016751
Disease:
Hereditary fructose intolerance syndrome 		T 0.700 CausalMutation CLINVAR Expression, purification, and characterization of natural mutants of human aldolase B. Role of quaternary structure in catalysis. 10625657 2000
dbSNP: rs76917243
rs76917243
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB
CUI: C0016751
Disease:
Hereditary fructose intolerance syndrome 		T 0.700 CausalMutation CLINVAR Molecular analysis of aldolase B genes in hereditary fructose intolerance. 1967768 1990