DisGeNET - a database of gene-disease associations

Glucose-6-phosphate transport defect, C0268146

Variant: rs121908976 ×

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:

rs121908976

SLC37A4

0.700

GeneticVariation

CLINVAR

Immunodetection of the expression of microsomal proteins encoded by the glucose 6-phosphate transporter gene.

15757503

2005

dbSNP:

rs121908976

SLC37A4

0.700

GeneticVariation

CLINVAR

Structural requirements for the stability and microsomal transport activity of the human glucose 6-phosphate transporter.

10940311

2000

dbSNP:

rs121908976

SLC37A4

0.700

GeneticVariation

CLINVAR

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

10482962

1999

dbSNP:

rs121908976

SLC37A4

0.700

GeneticVariation

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