Statements (21)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
gptkb:NaV1.6
gptkb:Nav1.6 gptkb:sodium_channel,_voltage-gated,_type_VIII,_alpha_subunit |
| gptkbp:associatedWith |
intellectual disability
movement disorders Epilepsy |
| gptkbp:encodes |
gptkb:Nav1.6
|
| gptkbp:Entrez_Gene_ID |
6334
|
| gptkbp:expressedIn |
central nervous system
|
| gptkbp:HGNC_ID |
10582
|
| https://www.w3.org/2000/01/rdf-schema#label |
SCN8A
|
| gptkbp:locatedOnChromosome |
12q13.13
|
| gptkbp:memberOf |
gptkb:voltage-gated_sodium_channel_gene_family
|
| gptkbp:mutationAssociatedWith |
gptkb:early_infantile_epileptic_encephalopathy_13
|
| gptkbp:OMIM |
600702
|
| gptkbp:orthologInMouse |
gptkb:Scn8a
|
| gptkbp:product |
gptkb:sodium_channel_protein_type_8_subunit_alpha
|
| gptkbp:UniProtID |
Q9UQD0
|
| gptkbp:bfsParent |
gptkb:chromosome_12
|
| gptkbp:bfsLayer |
6
|