Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs78340951
rs78340951
ALDOB
C 0.800 CausalMutation CLINVAR Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose Intolerance. 23430936

2012
dbSNP: rs78340951
rs78340951
ALDOB
C 0.800 GeneticVariation CLINVAR Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose Intolerance. 23430936

2012
dbSNP: rs78340951
rs78340951
ALDOB
0.800 GeneticVariation UNIPROT Hereditary fructose intolerance: functional study of two novel ALDOB natural variants and characterization of a partial gene deletion. 20848650

2010
dbSNP: rs78340951
rs78340951
ALDOB
C 0.800 CausalMutation CLINVAR Increased prevalence of mutant null alleles that cause hereditary fructose intolerance in the American population. 20033295

2010
dbSNP: rs78340951
rs78340951
ALDOB
C 0.800 CausalMutation CLINVAR Mutations in the promoter region of the aldolase B gene that cause hereditary fructose intolerance. 20882353

2010
dbSNP: rs78340951
rs78340951
ALDOB
C 0.800 GeneticVariation CLINVAR Subsequently, an aversion to fruits suggested HFI, confirmed by the finding of ALDOB mutations (p.A150P/p.N335K). 19768653

2009
dbSNP: rs78340951
rs78340951
ALDOB
C 0.800 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: rs78340951
rs78340951
ALDOB
C 0.800 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: rs78340951
rs78340951
ALDOB
C 0.800 CausalMutation CLINVAR The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe. 15880727

2005
dbSNP: rs78340951
rs78340951
ALDOB
0.800 GeneticVariation UNIPROT The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe. 15880727

2005
dbSNP: rs78340951
rs78340951
ALDOB
C 0.800 GeneticVariation CLINVAR The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe. 15880727

2005
dbSNP: rs78340951
rs78340951
ALDOB
0.800 GeneticVariation UNIPROT Six novel alleles identified in Italian hereditary fructose intolerance patients enlarge the mutation spectrum of the aldolase B gene. 15532022

2004
dbSNP: rs78340951
rs78340951
ALDOB
C 0.800 CausalMutation CLINVAR Molecular analysis of the aldolase B gene in patients with hereditary fructose intolerance from Spain. 12205126

2002
dbSNP: rs78340951
rs78340951
ALDOB
C 0.800 CausalMutation CLINVAR Structural and functional analysis of aldolase B mutants related to hereditary fructose intolerance. 12417303

2002
dbSNP: rs78340951
rs78340951
ALDOB
C 0.800 GeneticVariation CLINVAR Molecular analysis of the aldolase B gene in patients with hereditary fructose intolerance from Spain. 12205126

2002
dbSNP: rs78340951
rs78340951
ALDOB
0.800 GeneticVariation UNIPROT Molecular analysis of the aldolase B gene in patients with hereditary fructose intolerance from Spain. 12205126

2002
dbSNP: rs78340951
rs78340951
ALDOB
C 0.800 GeneticVariation CLINVAR Structural and functional analysis of aldolase B mutants related to hereditary fructose intolerance. 12417303

2002
dbSNP: rs78340951
rs78340951
ALDOB
C 0.800 CausalMutation CLINVAR Mutation analysis in Turkish patients with hereditary fructose intolerance. 11757579

2001
dbSNP: rs78340951
rs78340951
ALDOB
0.800 GeneticVariation UNIPROT Functional and molecular modelling studies of two hereditary fructose intolerance-causing mutations at arginine 303 in human liver aldolase. 10970798

2000
dbSNP: rs78340951
rs78340951
ALDOB
0.800 GeneticVariation UNIPROT Screening for hereditary fructose intolerance mutations by reverse dot-blot. 10024431

1999
dbSNP: rs78340951
rs78340951
ALDOB
0.800 GeneticVariation UNIPROT Identification of a novel mutation (Leu 256-->Pro) in the human aldolase B gene associated with hereditary fructose intolerance. 8162030

1994
dbSNP: rs78340951
rs78340951
ALDOB
0.800 GeneticVariation UNIPROT A partially active mutant aldolase B from a patient with hereditary fructose intolerance. 8299883

1994
dbSNP: rs78340951
rs78340951
ALDOB
C 0.800 GeneticVariation CLINVAR Aldolase B mutations in Italian families affected by hereditary fructose intolerance. 1856829

1991
dbSNP: rs78340951
rs78340951
ALDOB
0.800 GeneticVariation UNIPROT Molecular analysis of aldolase B genes in hereditary fructose intolerance. 1967768

1990
dbSNP: rs78340951
rs78340951
ALDOB
C 0.800 CausalMutation CLINVAR A new aldolase B variant, N334K, is a common cause of hereditary fructose intolerance in Yugoslavia. 2336380

1990