Statements (19)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:associatedWith |
gptkb:Glycogen_storage_disease_type_IV
|
| gptkbp:encodes |
1,4-alpha-glucan branching enzyme
|
| gptkbp:Entrez_Gene_ID |
2632
ENSG00000105697 |
| gptkbp:expressedIn |
gptkb:skeletal_muscle
liver |
| gptkbp:function |
glycogen biosynthesis
|
| gptkbp:HGNC_ID |
gptkb:GBE1
|
| https://www.w3.org/2000/01/rdf-schema#label |
GBE1 gene
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_3
3p12.3 |
| gptkbp:mutationAssociatedWith |
gptkb:Andersen_disease
|
| gptkbp:OMIM |
607839
|
| gptkbp:orthologInMouse |
gptkb:Gbe1
|
| gptkbp:product |
glycogen branching enzyme 1
|
| gptkbp:UniProtID |
P11216
|
| gptkbp:bfsParent |
gptkb:Glycogen_Branching_Enzyme_Deficiency
|
| gptkbp:bfsLayer |
6
|