DisGeNET - a database of gene-disease associations

Glucose-6-phosphate transport defect, C0268146

Gene: TRAPPC4 ×

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:

rs80356490

SLC37A4 ; TRAPPC4

0.800

GeneticVariation

UNIPROT

Mutation analysis in glycogen storage disease type 1 non-a.

11071391

2000

dbSNP:

rs80356490

SLC37A4 ; TRAPPC4

0.800

CausalMutation

CLINVAR

Molecular analysis in glycogen storage disease 1 non-A: DHPLC detection of the highly prevalent exon 8 mutations of the G6PT1 gene in German patients.

10923042

2000

dbSNP:

rs121908980

SLC37A4 ; TRAPPC4

0.800

GeneticVariation

UNIPROT

Glycogen storage disease type Ib: structural and mutational analysis of the microsomal glucose-6-phosphate transporter gene.

10482875

1999

dbSNP:

rs121908980

SLC37A4 ; TRAPPC4

0.800

GeneticVariation

UNIPROT

Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c.

10518030

1999

dbSNP:

rs121908980

SLC37A4 ; TRAPPC4

0.800

GeneticVariation

UNIPROT

The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a.

10482962

1999

dbSNP:

rs121908980

SLC37A4 ; TRAPPC4

0.800

GeneticVariation

UNIPROT

Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b.

10026167

1999

dbSNP:

rs80356490

SLC37A4 ; TRAPPC4

0.800

GeneticVariation

UNIPROT

Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c.

10518030

1999

dbSNP:

rs80356490

SLC37A4 ; TRAPPC4

0.800

GeneticVariation

UNIPROT

Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b.

10026167

1999

dbSNP:

rs80356490

SLC37A4 ; TRAPPC4

0.800

GeneticVariation

UNIPROT

The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a.

10482962

1999

dbSNP:

rs80356490

SLC37A4 ; TRAPPC4

0.800

GeneticVariation

UNIPROT

Glycogen storage disease type Ib: structural and mutational analysis of the microsomal glucose-6-phosphate transporter gene.

10482875

1999

dbSNP:

rs121908980

SLC37A4 ; TRAPPC4

0.800

GeneticVariation

UNIPROT

Molecular analysis of glycogen storage disease type Ib: identification of a prevalent mutation among Japanese patients and assignment of a putative glucose-6-phosphate translocase gene to chromosome 11.

9675154

1998

dbSNP:

rs121908980

SLC37A4 ; TRAPPC4

0.800

GeneticVariation

UNIPROT

Structure and mutation analysis of the glycogen storage disease type 1b gene.

9781688

1998

dbSNP:

rs121908980

SLC37A4 ; TRAPPC4

0.800

GeneticVariation

UNIPROT

Genomic structure of the human glucose 6-phosphate translocase gene and novel mutations in the gene of a Japanese patient with glycogen storage disease type Ib.

9856496

1998

dbSNP:

rs121908980

SLC37A4 ; TRAPPC4

0.800

GeneticVariation

UNIPROT

A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic.

9758626

1998

dbSNP:

rs80356490

SLC37A4 ; TRAPPC4

0.800

GeneticVariation

UNIPROT

9675154

1998

dbSNP:

rs80356490

SLC37A4 ; TRAPPC4

0.800

GeneticVariation

UNIPROT

Genomic structure of the human glucose 6-phosphate translocase gene and novel mutations in the gene of a Japanese patient with glycogen storage disease type Ib.

9856496

1998

dbSNP:

rs80356490

SLC37A4 ; TRAPPC4

0.800

GeneticVariation

UNIPROT

Structure and mutation analysis of the glycogen storage disease type 1b gene.

9781688

1998

dbSNP:

rs80356490

SLC37A4 ; TRAPPC4

0.800

GeneticVariation

UNIPROT

A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic.

9758626

1998

dbSNP:

rs80356490

SLC37A4 ; TRAPPC4

0.800

CausalMutation

CLINVAR

A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic.

9758626

1998

dbSNP:

rs121908980

SLC37A4 ; TRAPPC4

0.800

GeneticVariation

UNIPROT

Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib.

9428641

1997

dbSNP:

rs80356490

SLC37A4 ; TRAPPC4

0.800

GeneticVariation

UNIPROT

Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib.

9428641

1997

dbSNP:

rs121908980

SLC37A4 ; TRAPPC4

0.800

CausalMutation

CLINVAR

dbSNP:

rs80356491

SLC37A4 ; TRAPPC4

0.700

CausalMutation

CLINVAR

Novel SLC37A4 Mutations in Korean Patients With Glycogen Storage Disease Ib.

28224773

2017

dbSNP:

rs80356491

SLC37A4 ; TRAPPC4

0.700

CausalMutation

CLINVAR

Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing.

26913919

2016

dbSNP:

rs80356491

SLC37A4 ; TRAPPC4

0.700

CausalMutation

CLINVAR

Involvement of endocrine system in a patient affected by glycogen storage disease 1b: speculation on the role of autoimmunity.

24646511

2014