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GENE - TERM ANNOTATION REPORT

RGD ID: 18904185
Species: Heterocephalus glaber
RGD Object: Gene
Symbol: Tubgcp5
Name: tubulin gamma complex component 5
Acc ID: DOID:0110811
Term: hereditary spastic paraplegia 6
Definition: A hereditary spastic paraplegia that is usually characterized by rapidly progressive and severe spastic paraplegia and has_material_basis_in mutation in the NIPA1 gene on chromosome 15q11.2. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/14508710 "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)
Tubgcp5 ISOTUBGCP5 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hereditary spastic paraplegia 6PMID:17268193 PMID:23032108 PMID:25689425 PMID:28492532
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