Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
sodium channel, voltage-gated, type IX, alpha subunit
Nav1.7 |
| gptkbp:associatedWith |
gptkb:congenital_insensitivity_to_pain
pain perception paroxysmal extreme pain disorder primary erythromelalgia |
| gptkbp:encodes |
Nav1.7
|
| gptkbp:Entrez_Gene_ID |
6335
|
| gptkbp:expressedIn |
peripheral nervous system
|
| gptkbp:foundIn |
gptkb:Homo_sapiens
|
| gptkbp:hasTranscriptVariant |
multiple
|
| gptkbp:HGNC_ID |
HGNC:10585
|
| https://www.w3.org/2000/01/rdf-schema#label |
SCN9A
|
| gptkbp:locatedOnChromosome |
chromosome 2
|
| gptkbp:mutationAssociatedWith |
gain of function causes pain syndromes
loss of function causes insensitivity to pain |
| gptkbp:numberOfExons |
27
|
| gptkbp:OMIM |
603415
|
| gptkbp:proteinFamily |
gptkb:voltage-gated_potassium_channel
|
| gptkbp:UniProtID |
Q15858
|
| gptkbp:bfsParent |
gptkb:erythromelalgia
|
| gptkbp:bfsLayer |
7
|