DisGeNET - a database of gene-disease associations

Hereditary fructose intolerance syndrome, C0016751

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:

rs78340951

ALDOB

0.800

GeneticVariation

UNIPROT

A new aldolase B variant, N334K, is a common cause of hereditary fructose intolerance in Yugoslavia.

2336380

1990

dbSNP:

rs369586696

ALDOB

0.710

GeneticVariation

UNIPROT

A new aldolase B variant, N334K, is a common cause of hereditary fructose intolerance in Yugoslavia.

2336380

1990

dbSNP:

rs1554702433

ALDOB

0.700

GeneticVariation

UNIPROT

A new aldolase B variant, N334K, is a common cause of hereditary fructose intolerance in Yugoslavia.

2336380

1990

dbSNP:

rs1554702442

ALDOB

0.700

GeneticVariation

UNIPROT

A new aldolase B variant, N334K, is a common cause of hereditary fructose intolerance in Yugoslavia.

2336380

1990

dbSNP:

rs555935217

ALDOB

0.700

GeneticVariation

UNIPROT

A new aldolase B variant, N334K, is a common cause of hereditary fructose intolerance in Yugoslavia.

2336380

1990

dbSNP:

rs764701775

ALDOB

0.700

GeneticVariation

UNIPROT

A new aldolase B variant, N334K, is a common cause of hereditary fructose intolerance in Yugoslavia.

2336380

1990

dbSNP:

rs781023784

ALDOB

0.700

GeneticVariation

UNIPROT

A new aldolase B variant, N334K, is a common cause of hereditary fructose intolerance in Yugoslavia.

2336380

1990

dbSNP:

rs78340951

ALDOB

0.800

GeneticVariation

UNIPROT

A partially active mutant aldolase B from a patient with hereditary fructose intolerance.

8299883

1994

dbSNP:

rs369586696

ALDOB

0.710

GeneticVariation

UNIPROT

A partially active mutant aldolase B from a patient with hereditary fructose intolerance.

8299883

1994

dbSNP:

rs118204429

ALDOB

0.700

GeneticVariation

CLINVAR

A partially active mutant aldolase B from a patient with hereditary fructose intolerance.

8299883

1994

dbSNP:

rs118204429

ALDOB

0.700

CausalMutation

CLINVAR

A partially active mutant aldolase B from a patient with hereditary fructose intolerance.

8299883

1994

dbSNP:

rs1554702433

ALDOB

0.700

GeneticVariation

UNIPROT

A partially active mutant aldolase B from a patient with hereditary fructose intolerance.

8299883

1994

dbSNP:

rs1554702442

ALDOB

0.700

GeneticVariation

UNIPROT

A partially active mutant aldolase B from a patient with hereditary fructose intolerance.

8299883

1994

dbSNP:

rs555935217

ALDOB

0.700

GeneticVariation

UNIPROT

A partially active mutant aldolase B from a patient with hereditary fructose intolerance.

8299883

1994

dbSNP:

rs764701775

ALDOB

0.700

GeneticVariation

UNIPROT

A partially active mutant aldolase B from a patient with hereditary fructose intolerance.

8299883

1994

dbSNP:

rs781023784

ALDOB

0.700

GeneticVariation

UNIPROT

A partially active mutant aldolase B from a patient with hereditary fructose intolerance.

8299883

1994

dbSNP:

rs118204429

ALDOB

0.700

GeneticVariation

CLINVAR

Aldolase B and fructose intolerance.

8299892

1994

dbSNP:

rs1800546

ALDOB

0.700

CausalMutation

CLINVAR

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

16406649

2006

dbSNP:

rs370793608

ALDOB

0.700

GeneticVariation

CLINVAR

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

16406649

2006

dbSNP:

rs370793608

ALDOB

0.700

CausalMutation

CLINVAR

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

16406649

2006

dbSNP:

rs387906225

ALDOB

0.700

GeneticVariation

CLINVAR

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

16406649

2006

dbSNP:

rs752902486

ALDOB

0.700

CausalMutation

CLINVAR

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

16406649

2006

dbSNP:

rs78340951

ALDOB

0.800

GeneticVariation

CLINVAR

Aldolase B mutations in Italian families affected by hereditary fructose intolerance.

1856829

1991

dbSNP:

rs77718928

ALDOB

0.700

GeneticVariation

CLINVAR

Alteration of substrate specificity by a naturally-occurring aldolase B mutation (Ala337-->Val) in fructose intolerance.

10229688

1999

dbSNP:

rs145078268

ALDOB

0.700

GeneticVariation

CLINVAR

An informatics approach to analyzing the incidentalome.

22995991

2013