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GENE - TERM ANNOTATION REPORT

RGD ID: 12134159
Species: Canis lupus familiaris
RGD Object: Gene
Symbol: SCAF4
Name: SR-related CTD associated factor 4
Acc ID: DOID:0111995
Term: immunodeficiency 28
Definition: A primary immunodeficiency disease characterized by increased susceptibility to mycobacterial disease, high levels of IFNG in the plasma, and absence of cellular response to IFNG that has_material_basis_in homozygous or compound heterozygous mutation in the IFNGR2 gene on chromosome 21q22.11. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/11335769/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/19084105/ "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)
SCAF4 ISOSCAF4 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Immunodeficiency 28PMID:17237124 PMID:23512985 PMID:28492532
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