DisGeNET - a database of gene-disease associations

Glucose-6-phosphate transport defect, C0268146

Variant: rs786204477 ×

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:

rs786204477

SLC37A4

GTCATGCCAGCCA

0.700

GeneticVariation

CLINVAR

Molecular mechanisms of neutrophil dysfunction in glycogen storage disease type Ib.

24565827

2014

dbSNP:

rs786204477

SLC37A4

GTCATGCCAGCCA

0.700

GeneticVariation

CLINVAR

Use of modified cornstarch therapy to extend fasting in glycogen storage disease types Ia and Ib.

18996862

2008

dbSNP:

rs786204477

SLC37A4

GTCATGCCAGCCA

0.700

GeneticVariation

CLINVAR

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

15757503

2005

dbSNP:

rs786204477

SLC37A4

GTCATGCCAGCCA

0.700

GeneticVariation

CLINVAR

Glycogen storage disease type I: diagnosis and phenotype/genotype correlation.

12373566

2002

dbSNP:

rs786204477

SLC37A4

GTCATGCCAGCCA

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