Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:associatedWith |
gptkb:GLUT1_deficiency_syndrome
epilepsy developmental delay |
| gptkbp:encodes |
gptkb:GLUT1
|
| gptkbp:Entrez_Gene_ID |
gptkb:ENSG00000117394
|
| gptkbp:expressedIn |
gptkb:placenta
gptkb:blood-brain_barrier erythrocytes |
| gptkbp:fullName |
gptkb:solute_carrier_family_2_member_1
|
| gptkbp:function |
facilitated glucose transporter
|
| gptkbp:HGNC_ID |
11005
|
| https://www.w3.org/2000/01/rdf-schema#label |
Slc2a1
|
| gptkbp:locatedOnChromosome |
1
|
| gptkbp:location |
gptkb:1p34.2
|
| gptkbp:mutationAssociatedWith |
gptkb:GLUT1_deficiency_syndrome
|
| gptkbp:OMIM |
138140
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:product |
gptkb:GLUT1
|
| gptkbp:RefSeq |
gptkb:NM_006516
|
| gptkbp:UniProtID |
P11166
|
| gptkbp:bfsParent |
gptkb:SLC2A1
|
| gptkbp:bfsLayer |
7
|