DisGeNET - a database of gene-disease associations

ALDOB, aldolase, fructose-bisphosphate B, 229

N. diseases: 80; N. variants: 46

Disease: Hereditary fructose intolerance syndrome ×

Variant: rs387906225 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs387906225

Entrez Id:	229
Gene Symbol:	ALDOB

ALDOB

CUI:	C0016751
Disease:

Hereditary fructose intolerance syndrome

0.700

CausalMutation

CLINVAR

Hereditary fructose intolerance in Brazilian patients.

26937407

2015

dbSNP:

rs387906225

Entrez Id:	229
Gene Symbol:	ALDOB

ALDOB

CUI:	C0016751
Disease:

Hereditary fructose intolerance syndrome

0.700

GeneticVariation

CLINVAR

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

23430936

2012

dbSNP:

rs387906225

Entrez Id:	229
Gene Symbol:	ALDOB

ALDOB

CUI:	C0016751
Disease:

Hereditary fructose intolerance syndrome

0.700

GeneticVariation

CLINVAR

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

20033295

2010

dbSNP:

rs387906225

Entrez Id:	229
Gene Symbol:	ALDOB

ALDOB

CUI:	C0016751
Disease:

Hereditary fructose intolerance syndrome

0.700

CausalMutation

CLINVAR

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

20033295

2010

dbSNP:

rs387906225

Entrez Id:	229
Gene Symbol:	ALDOB

ALDOB

CUI:	C0016751
Disease:

Hereditary fructose intolerance syndrome

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:

rs387906225

Entrez Id:	229
Gene Symbol:	ALDOB

ALDOB

CUI:	C0016751
Disease:

Hereditary fructose intolerance syndrome

0.700

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:

rs387906225

Entrez Id:	229
Gene Symbol:	ALDOB

ALDOB

CUI:	C0016751
Disease:

Hereditary fructose intolerance syndrome

0.700

GeneticVariation

CLINVAR

Clinical and genetic analysis for a Chinese family with hereditary fructose intolerance.

17955389

2007

dbSNP:

rs387906225

Entrez Id:	229
Gene Symbol:	ALDOB

ALDOB

CUI:	C0016751
Disease:

Hereditary fructose intolerance syndrome

0.700

GeneticVariation

CLINVAR

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

16406649

2006

dbSNP:

rs387906225

Entrez Id:	229
Gene Symbol:	ALDOB

ALDOB

CUI:	C0016751
Disease:

Hereditary fructose intolerance syndrome

0.700

GeneticVariation

CLINVAR

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

15880727

2005

dbSNP:

rs387906225

Entrez Id:	229
Gene Symbol:	ALDOB

ALDOB

CUI:	C0016751
Disease:

Hereditary fructose intolerance syndrome

0.700

CausalMutation

CLINVAR

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

15880727

2005

dbSNP:

rs387906225

Entrez Id:	229
Gene Symbol:	ALDOB

ALDOB

CUI:	C0016751
Disease:

Hereditary fructose intolerance syndrome

0.700

CausalMutation

CLINVAR

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

12205126

2002

dbSNP:

rs387906225

Entrez Id:	229
Gene Symbol:	ALDOB

ALDOB

CUI:	C0016751
Disease:

Hereditary fructose intolerance syndrome

0.700

GeneticVariation

CLINVAR

Molecular basis of hereditary fructose intolerance in Italy: identification of two novel mutations in the aldolase B gene.

8880583

1996

dbSNP:

rs387906225

Entrez Id:	229
Gene Symbol:	ALDOB

ALDOB

CUI:	C0016751
Disease:

Hereditary fructose intolerance syndrome

0.700

GeneticVariation

CLINVAR

Diverse mutations in the aldolase B gene that underlie the prevalence of hereditary fructose intolerance.

7717389

1995

dbSNP:

rs387906225

Entrez Id:	229
Gene Symbol:	ALDOB

ALDOB

CUI:	C0016751
Disease:

Hereditary fructose intolerance syndrome

0.700

GeneticVariation

CLINVAR

The molecular basis of hereditary fructose intolerance in Italian children.

8292669

1993

dbSNP:

rs387906225

Entrez Id:	229
Gene Symbol:	ALDOB

ALDOB

CUI:	C0016751
Disease:

Hereditary fructose intolerance syndrome

0.700

CausalMutation

CLINVAR

Molecular evidence for compound heterozygosity in hereditary fructose intolerance.

2339710

1990

dbSNP:

rs387906225

Entrez Id:	229
Gene Symbol:	ALDOB

ALDOB

CUI:	C0016751
Disease:

Hereditary fructose intolerance syndrome

0.700

GeneticVariation

CLINVAR

Molecular evidence for compound heterozygosity in hereditary fructose intolerance.

2339710

1990