Statements (25)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
GSD6
glycogen phosphorylase, liver form liver glycogen phosphorylase |
| gptkbp:associatedWith |
glycogen storage disease type VI
|
| gptkbp:encodes |
glycogen phosphorylase, liver form
|
| gptkbp:Entrez_Gene_ID |
5837
ENSG00000100994 |
| gptkbp:expressedIn |
liver
|
| gptkbp:function |
glycogen catabolism
|
| gptkbp:hasGeneCardsID |
GC13P050073
|
| gptkbp:hasRefSeqID |
NM_002862
|
| gptkbp:HGNC_ID |
HGNC:9700
|
| https://www.w3.org/2000/01/rdf-schema#label |
PYGL
|
| gptkbp:locatedOnChromosome |
14q22.1
|
| gptkbp:mutationAssociatedWith |
glycogen storage disease type VI
|
| gptkbp:OMIM |
613741
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:PDB |
1FA9
|
| gptkbp:product |
liver glycogen phosphorylase
|
| gptkbp:UniProtID |
P06737
|
| gptkbp:bfsParent |
gptkb:Glycogen_phosphorylase
gptkb:glycogen_phosphorylase gptkb:Glycogen_Storage_Disease_Type_VI |
| gptkbp:bfsLayer |
7
|