Statements (16)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:associatedWith |
glycogen storage disease type IXa
|
| gptkbp:encodes |
phosphorylase b kinase regulatory subunit alpha, liver isoform
|
| gptkbp:Entrez_Gene_ID |
5255
|
| gptkbp:expressedIn |
liver
|
| gptkbp:function |
regulation of glycogen metabolism
|
| gptkbp:HGNC_ID |
8922
|
| https://www.w3.org/2000/01/rdf-schema#label |
PHKA2
|
| gptkbp:locatedOnChromosome |
X
|
| gptkbp:mutationAssociatedWith |
X-linked liver glycogenosis
|
| gptkbp:OMIM |
300798
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:product |
phosphorylase b kinase alpha subunit (liver)
|
| gptkbp:UniProtID |
P15735
|
| gptkbp:bfsParent |
gptkb:Glycogen_Storage_Disease_Type_IX
|
| gptkbp:bfsLayer |
7
|