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GENE - TERM ANNOTATION REPORT

RGD ID: 1345296
Species: Homo sapiens
RGD Object: Gene
Symbol: HFE
Name: homeostatic iron regulator
Acc ID: DOID:11758
Term: iron deficiency anemia
Definition: A nutritional deficiency disease that is characterized by pallor, fatigue, lightheadedness, and weakness and has_material_basis_in low total body iron causing impaired synthesis of red blood cells. (DO)
Definition Source(s): https://www.merckmanuals.com/professional/hematology-and-oncology/anemias-caused-by-deficient-erythropoiesis/iron-deficiency-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)
HFE IAGP 14701052RGDassociated with celiac disease;DNA:missense mutations: :p.H63D, p.C282Y (human)  
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