DisGeNET - a database of gene-disease associations

Glucose-6-phosphate transport defect, C0268146

Variant: rs193302887 ×

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:

rs193302887

SLC37A4

0.800

GeneticVariation

CLINVAR

Functional analysis of mutations in the glucose-6-phosphate transporter that cause glycogen storage disease type Ib.

18835800

2008

dbSNP:

rs193302887

SLC37A4

0.800

GeneticVariation

CLINVAR

Novel missense mutation (Y24H) in the G6PT1 gene causing glycogen storage disease type 1b.

12409273

2002

dbSNP:

rs193302887

SLC37A4

0.800

GeneticVariation

UNIPROT