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GENE - TERM ANNOTATION REPORT

RGD ID: 12727798
Species: Ictidomys tridecemlineatus
RGD Object: Gene
Symbol: Il2rb
Name: interleukin 2 receptor subunit beta
Acc ID: DOID:0110735
Term: neurodegeneration with brain iron accumulation 2A
Definition: A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PLA2G6 gene on chromosome 22q13.1 and is characterized by onset in the first 2 years of life. (DO)
Definition Source(s): https://omim.org/entry/256600 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/18443314 "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)
Il2rb ISOIL2RB (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Infantile neuroaxonal dystrophyPMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
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