DisGeNET - a database of gene-disease associations

Hereditary fructose intolerance syndrome, C0016751

Variant: rs1800546 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1800546

ALDOB

0.700

CausalMutation

CLINVAR

Hereditary fructose intolerance mimicking a biochemical phenotype of mucolipidosis: A review of the literature of secondary causes of lysosomal enzyme activity elevation in serum.

27797444

2017

dbSNP:

rs1800546

ALDOB

0.700

CausalMutation

CLINVAR

Hereditary fructose intolerance in Brazilian patients.

26937407

2015

dbSNP:

rs1800546

ALDOB

0.700

CausalMutation

CLINVAR

Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose Intolerance.

23430936

2012

dbSNP:

rs1800546

ALDOB

0.700

CausalMutation

CLINVAR

Increased prevalence of mutant null alleles that cause hereditary fructose intolerance in the American population.

20033295

2010

dbSNP:

rs1800546

ALDOB

0.700

CausalMutation

CLINVAR

Subsequently, an aversion to fruits suggested HFI, confirmed by the finding of ALDOB mutations (p.A150P/p.N335K).

19768653

2009

dbSNP:

rs1800546

ALDOB

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:

rs1800546

ALDOB

0.700

CausalMutation

CLINVAR

Aldolase B mutations and prevalence of hereditary fructose intolerance in a Polish population.

16406649

2006

dbSNP:

rs1800546

ALDOB

0.700

CausalMutation

CLINVAR

Structure of the thermolabile mutant aldolase B, A149P: molecular basis of hereditary fructose intolerance.

15733923

2005

dbSNP:

rs1800546

ALDOB

0.700

CausalMutation

CLINVAR

The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe.

15880727

2005

dbSNP:

rs1800546

ALDOB

0.700

CausalMutation

CLINVAR

The temperature dependence of activity and structure for the most prevalent mutant aldolase B associated with hereditary fructose intolerance.

12464284

2002

dbSNP:

rs1800546

ALDOB

0.700

CausalMutation

CLINVAR

Molecular analysis of the aldolase B gene in patients with hereditary fructose intolerance from Spain.

12205126

2002

dbSNP:

rs1800546

ALDOB

0.700

CausalMutation

CLINVAR

Structural and functional analysis of aldolase B mutants related to hereditary fructose intolerance.

12417303

2002

dbSNP:

rs1800546

ALDOB

0.700

CausalMutation

CLINVAR

Mutation analysis in Turkish patients with hereditary fructose intolerance.

11757579

2001

dbSNP:

rs1800546

ALDOB

0.700

CausalMutation

CLINVAR

Association of the widespread A149P hereditary fructose intolerance mutation with newly identified sequence polymorphisms in the aldolase B gene.

8096362

1993

dbSNP:

rs1800546

ALDOB

0.700

CausalMutation

CLINVAR

Catalytic deficiency of human aldolase B in hereditary fructose intolerance caused by a common missense mutation.

3383242

1988

dbSNP:

rs1800546

ALDOB

0.700

CausalMutation

CLINVAR

Isolation and characterization of a mutant liver aldolase in adult hereditary fructose intolerance. Identification of the enzyme variant by radioassay in tissue biopsy specimens.

6348085

1983