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GENE - TERM ANNOTATION REPORT

RGD ID: 8865576
Species: Chinchilla lanigera
RGD Object: Gene
Symbol: Gba2
Name: glucosylceramidase beta 2
Acc ID: DOID:0110798
Term: hereditary spastic paraplegia 46
Definition: A hereditary spastic paraplegia that has_material_basis_in mutation in the GBA2 gene on chromosome 9p. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/23332916 "DO" "DO"
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)7240710OMIM  
Gba2 ISOGBA2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hereditary spastic paraplegia 46PMID:16199547 PMID:20593214 PMID:23332916 PMID:23332917 PMID:24252062 PMID:25741868 PMID:26220345 PMID:28492532 PMID:28832565 PMID:30308956
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