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GENE - TERM ANNOTATION REPORT

RGD ID: 620466
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Aimp1
Name: aminoacyl tRNA synthetase complex-interacting multifunctional protein 1
Acc ID: DOID:0060790
Term: hypomyelinating leukodystrophy 3
Definition: A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system that has_material_basis_in homozygous mutation in the AIMP1 gene on chromosome 4q24. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/21092922 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/24958424 "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)
Aimp1 ISOAIMP1 (Homo sapiens)7240710OMIM  
Aimp1 ISOAIMP1 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Aimp1 ISOAIMP1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypomyelinating leukodystrophy 3PMID:21092922 PMID:23806086 PMID:24088041 PMID:24958424 PMID:25741868 PMID:26257172 PMID:28492532 PMID:30486714 PMID:30828585 PMID:30924036 PMID:31618474 PMID:32531460
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