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GENE - TERM ANNOTATION REPORT

RGD ID: 1318293
Species: Homo sapiens
RGD Object: Gene
Symbol: SPAST
Name: spastin
Acc ID: DOID:9002598
Term: Spastic Paraparesis
Definition: Mild or moderate loss of motor function accompanied by spasticity in the lower extremities. This condition is a manifestation of CENTRAL NERVOUS SYSTEM DISEASES that cause injury to the motor cortex or descending motor pathways.
Definition Source(s): MESH:D020336
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
SPAST IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spastic paraparesisPMID:25741868
SPAST IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spastic paraparesisPMID:10610178 PMID:11309678 PMID:12161613 PMID:15716377 PMID:16009769 PMID:16055926 PMID:16682546 PMID:17594340 PMID:17957230 PMID:18701882 PMID:19438933 PMID:20562464 PMID:20718791 PMID:25658484 PMID:25741868 PMID:26208798 PMID:27334366 PMID:28492532
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