Statements (24)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
THTR1
|
| gptkbp:associatedWith |
thiamine-responsive megaloblastic anemia syndrome
|
| gptkbp:encodes |
thiamine transporter 1
|
| gptkbp:Entrez_Gene_ID |
gptkb:ENSG00000136868
10560 |
| gptkbp:expressedIn |
gptkb:kidney
liver pancreas |
| gptkbp:function |
thiamine transport
|
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
11016
|
| https://www.w3.org/2000/01/rdf-schema#label |
SLC19A2
|
| gptkbp:locatedOnChromosome |
1q23.3
|
| gptkbp:mutationAssociatedWith |
gptkb:diabetes_mellitus
sensorineural deafness megaloblastic anemia |
| gptkbp:OMIM |
603941
|
| gptkbp:orthologInMouse |
Slc19a2
|
| gptkbp:species |
gptkb:Homo_sapiens
|
| gptkbp:transporterFamily |
solute carrier family 19
|
| gptkbp:UniProtID |
O60779
|
| gptkbp:bfsParent |
gptkb:solute_carrier_family
|
| gptkbp:bfsLayer |
6
|