Statements (18)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
gptkb:GBE
1,4-alpha-glucan branching enzyme glycogen branching enzyme 1 |
| gptkbp:associatedWith |
gptkb:Glycogen_storage_disease_type_IV
|
| gptkbp:encodes |
glycogen branching enzyme
|
| gptkbp:Entrez_Gene_ID |
2632
|
| gptkbp:fullName |
gptkb:1,4-alpha-glucan_branching_enzyme_1
|
| gptkbp:function |
glycogen biosynthesis
|
| gptkbp:HGNC_ID |
gptkb:GBE1
|
| https://www.w3.org/2000/01/rdf-schema#label |
GBE1
|
| gptkbp:locatedOnChromosome |
3p12.3
|
| gptkbp:mutationAssociatedWith |
deficiency causes Andersen disease
|
| gptkbp:OMIM |
607839
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:UniProtID |
gptkb:P35573
|
| gptkbp:bfsParent |
gptkb:Glycogen_branching_enzyme
|
| gptkbp:bfsLayer |
6
|