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GENE - TERM ANNOTATION REPORT

RGD ID: 1311702
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Uba5
Name: ubiquitin-like modifier activating enzyme 5
Acc ID: DOID:0080424
Term: developmental and epileptic encephalopathy 44
Definition: A developmental and epileptic encephalopathy characterized by onset in the first year of life of refractory infantile spasms or myoclonus with developmental stagnation and severe neurologic impairment after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the UBA5 gene on chromosome 3q22. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/27545681/ "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/27545674 "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)
Uba5 ISOUBA5 (Homo sapiens)7240710OMIM  
Uba5 ISOUBA5 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Uba5 ISOUBA5 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 44 | ClinVar Annotator: match by term: UBA5-related conditionPMID:24033266 PMID:25741868 PMID:27545674 PMID:27545681 PMID:27926783 PMID:28492532 PMID:28965491 PMID:29286531 PMID:29663568 PMID:32371413 PMID:33811063 PMID:33853163
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