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GENE - TERM ANNOTATION REPORT

RGD ID: 3928
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Uchl1
Name: ubiquitin C-terminal hydrolase L1
Acc ID: DOID:0070455
Term: hereditary spastic paraplegia 79A
Definition: A hereditary spastic paraplegia characterized by slowly progressive cerebellar or sensory ataxia and spasticity of the lower limbs that has_material_basis_in heterozygous mutation in the UCHL1 gene on chromosome 4p13. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/35986737/ "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)
Uchl1 ISOUCHL1 (Homo sapiens)7240710OMIM  
Uchl1 ISOUCHL1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spastic paraplegia 79A, autosomal dominant, with ataxiaPMID:25741868 PMID:28492532 PMID:35986737 PMID:37650884
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