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GENE - TERM ANNOTATION REPORT

RGD ID: 1313722
Species: Mus musculus
RGD Object: Gene
Symbol: Gba2
Name: glucosidase beta 2
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)
Gba2 ISOGBA2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spastic paraplegiaPMID:16199547 PMID:17576681 PMID:23332916 PMID:23332917 PMID:25741868 PMID:26220345 PMID:28052128 PMID:28492532 PMID:29453417 PMID:29980238 PMID:32590105 PMID:33397523 PMID:34251556 PMID:34782662 PMID:9536098
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