Statements (19)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
GSD3
glycogen debranching enzyme gene |
| gptkbp:associatedWith |
Glycogen storage disease type III
|
| gptkbp:encodes |
amylo-1,6-glucosidase, 4-alpha-glucanotransferase
|
| gptkbp:Entrez_Gene_ID |
178
|
| gptkbp:expressedIn |
gptkb:skeletal_muscle
liver |
| gptkbp:function |
glycogen metabolism
|
| gptkbp:HGNC_ID |
HGNC:323
|
| https://www.w3.org/2000/01/rdf-schema#label |
AGL gene
|
| gptkbp:locatedOnChromosome |
chromosome 1
1p21 |
| gptkbp:mutationAssociatedWith |
causes glycogen storage disease type III
|
| gptkbp:OMIM |
610862
|
| gptkbp:species |
gptkb:Homo_sapiens
|
| gptkbp:UniProtID |
gptkb:P35573
|
| gptkbp:bfsParent |
gptkb:Glycogen_Storage_Disease_Type_III
|
| gptkbp:bfsLayer |
7
|