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GENE - TERM ANNOTATION REPORT

RGD ID: 1304832
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Aars1
Name: alanyl-tRNA synthetase 1
Acc ID: DOID:0080451
Term: developmental and epileptic encephalopathy 29
Definition: A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory myoclonic seizures, poor overall growth, congenital microcephaly with cerebral atrophy and impaired myelination on brain imaging, spasticity with abnormal movements, peripheral neuropathy, and poor visual fixation that has_material_basis_in homozygous or compound heterozygous mutation in the AARS1 gene on chromosome 16q22. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/25817015 "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)
Aars1 ISOAARS1 (Homo sapiens)7240710OMIM  
Aars1 ISOAARS1 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Aars1 ISOAARS1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 29 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 29PMID:21494555 PMID:25741868 PMID:25817015 PMID:28492532 PMID:28493438 PMID:29653220 PMID:31791873 PMID:32571458 PMID:33294374 PMID:34446925
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