Statements (16)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:gene
|
gptkbp:associatedWith |
glycogen storage disease type IX
|
gptkbp:encodes |
phosphorylase b kinase regulatory subunit beta
|
gptkbp:Entrez_Gene_ID |
5258
|
gptkbp:expressedIn |
gptkb:skeletal_muscle
liver |
gptkbp:function |
regulation of glycogen metabolism
|
gptkbp:HGNC_ID |
8922
|
https://www.w3.org/2000/01/rdf-schema#label |
PHKB
|
gptkbp:locatedOnChromosome |
gptkb:16q12.1
|
gptkbp:mutationAssociatedWith |
glycogen storage disease type IXb
|
gptkbp:OMIM |
172490
|
gptkbp:species |
gptkb:Homo_sapiens
|
gptkbp:UniProtID |
P11216
|
gptkbp:bfsParent |
gptkb:Glycogen_Storage_Disease_Type_IX
|
gptkbp:bfsLayer |
7
|