Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
gptkb:EPM1
gptkb:Stefin_B |
| gptkbp:associatedWith |
gptkb:Unverricht-Lundborg_disease
gptkb:progressive_myoclonic_epilepsy_type_1 |
| gptkbp:encodes |
gptkb:cystatin_B_protein
|
| gptkbp:Entrez_Gene_ID |
1471
ENSG00000160213 |
| gptkbp:expressedIn |
gptkb:skeletal_muscle
gptkb:kidney brain liver |
| gptkbp:function |
protease inhibitor
|
| gptkbp:HGNC_ID |
HGNC:2476
|
| https://www.w3.org/2000/01/rdf-schema#label |
CSTB gene
|
| gptkbp:locatedOnChromosome |
chromosome 21
|
| gptkbp:mutationAssociatedWith |
epilepsy
|
| gptkbp:OMIM |
601145
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:proteinFamily |
gptkb:cystatin_superfamily
|
| gptkbp:UniProtID |
P04080
|
| gptkbp:bfsParent |
gptkb:Lundborg_disease
|
| gptkbp:bfsLayer |
7
|