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GENE - TERM ANNOTATION REPORT

RGD ID: 1565983
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Apex2
Name: apurinic/apyrimidinic endodeoxyribonuclease 2
Acc ID: DOID:0060063
Term: sideroblastic anemia 1
Definition: A sideoblastic anemia that is characterized by the presence of microcytic hypochromic anemia and iron overload, and has_material_basis_in X-linked inheritance of mutation in the ALAS2 gene that enocdes aminolevulinic acid synthase that catalyzes the first step in heme production. (DO)
Definition Source(s): https://rarediseases.info.nih.gov/diseases/9456/x-linked-sideroblastic-anemia "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)
Apex2 ISOAPEX2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Anemia, sideroblastic, 1 
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