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GENE - TERM ANNOTATION REPORT

RGD ID: 1620021
Species: Mus musculus
RGD Object: Gene
Symbol: Fdx2
Name: ferredoxin 2
Acc ID: DOID:0111989
Term: immunodeficiency 35
Definition: A primary immunodeficiency disease characterized by increased susceptibility to mycobacterial infection after BCG vaccination and impaired cellular responses to IL-12, IFN-alpha/beta, IL-23, and IL-10 that has_material_basis_in homozygous or compound heterozygous mutation in the TYK2 gene on chromosome 19p13.2. (DO)
Definition Source(s): PMID:26304966 "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)
Fdx2 ISOFDX2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Immunodeficiency 35PMID:22402565 PMID:26304966 PMID:28492532
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