Statements (18)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
ceroid-lipofuscinosis neuronal 6
|
| gptkbp:associatedWith |
gptkb:neuronal_ceroid_lipofuscinosis
|
| gptkbp:encodes |
CLN6 protein
|
| gptkbp:Entrez_Gene_ID |
2059
|
| gptkbp:expressedIn |
gptkb:human
|
| gptkbp:function |
lysosomal function
|
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
2042
|
| https://www.w3.org/2000/01/rdf-schema#label |
CLN6
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_15
|
| gptkbp:mutationAssociatedWith |
CLN6 disease
late infantile neuronal ceroid lipofuscinosis |
| gptkbp:OMIM |
606725
|
| gptkbp:orthologInMouse |
Cln6
|
| gptkbp:UniProtID |
O75503
|
| gptkbp:bfsParent |
gptkb:CLNBL
|
| gptkbp:bfsLayer |
8
|