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GENE - TERM ANNOTATION REPORT

RGD ID: 70883
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Eif2ak1
Name: eukaryotic translation initiation factor 2 alpha kinase 1
Acc ID: DOID:0070404
Term: hypomyelinating leukodystrophy 17
Definition: A hypomyelinating leukodystrophy characterized by onset in early infancy of microcephaly and lack of overall development that has_material_basis_in homozygous mutation in the AIMP2 gene on chromosome 7p22. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/29215095/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/35140751/ "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)
Eif2ak1 ISOEIF2AK1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 17PMID:25741868
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