DisGeNET - a database of gene-disease associations

Glucose-6-phosphate transport defect, C0268146

Variant: rs786204740 ×

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:

rs786204740

SLC37A4

0.700

GeneticVariation

CLINVAR

Homology modeling of the human microsomal glucose 6-phosphate transporter explains the mutations that cause the glycogen storage disease type Ib.

15260472

2004

dbSNP:

rs786204740

SLC37A4

0.700

GeneticVariation

CLINVAR

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

12373566

2002

dbSNP:

rs786204740

SLC37A4

0.700

GeneticVariation

CLINVAR

Structure-function analysis of the glucose-6-phosphate transporter deficient in glycogen storage disease type Ib.

12444104

2002

dbSNP:

rs786204740

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