Statements (13)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:associatedWith |
gptkb:hereditary_spastic_paraplegia
gptkb:SPG3A |
| gptkbp:discoveredBy |
1999
|
| gptkbp:encodes |
gptkb:atlastin-1
|
| gptkbp:fullName |
spastic paraplegia 3 (autosomal dominant)
|
| gptkbp:function |
involved in axonal maintenance
|
| https://www.w3.org/2000/01/rdf-schema#label |
SPG3
|
| gptkbp:locatedOnChromosome |
14q22.1
|
| gptkbp:mutationAssociatedWith |
autosomal dominant
|
| gptkbp:OMIM |
182600
|
| gptkbp:bfsParent |
gptkb:Karl_Spoerri
|
| gptkbp:bfsLayer |
7
|