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GENE - TERM ANNOTATION REPORT

RGD ID: 14177342
Species: Sus scrofa
RGD Object: Gene
Symbol: SPAST
Name: spastin
Acc ID: DOID:607
Term: paraplegia
Definition: Severe or complete loss of motor function in the lower extremities and lower portions of the trunk. This condition is most often associated with SPINAL CORD DISEASES, although BRAIN DISEASES; PERIPHERAL NERVOUS SYSTEM DISEASES; NEUROMUSCULAR DISEASES; and MUSCULAR DISEASES may also cause bilateral leg weakness.
Definition Source(s): MESH:D010264
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 ISOSPAST (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spastic paraplegiaPMID:16055926 PMID:16199547 PMID:16240363 PMID:17100993 PMID:20718791 PMID:20932283 PMID:23833562 PMID:24824479 PMID:25341883 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28572275 PMID:30476002 PMID:32581362 PMID:34445196
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