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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:0112344
Term: hereditary spastic paraplegia 79B
Definition: A hereditary spastic paraplegia characterized by onset of spastic paraplegia and optic atrophy in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the UCHL1 gene on chromosome 4p13. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/28007905/ "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)11554173CTDCTD Direct Evidence: marker/mechanism 
Uchl1 ISOUCHL1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndromePMID:10203348 PMID:10563640 PMID:12408865 PMID:15048890 PMID:16450370 PMID:18411255 PMID:19864305 PMID:21268678 PMID:22839974 PMID:23359680 PMID:25741868 PMID:28007905 PMID:28492532 PMID:3340629 PMID:4514348
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