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GENE - TERM ANNOTATION REPORT

RGD ID: 61307
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Ncf1
Name: neutrophil cytosolic factor 1
Acc ID: DOID:0070194
Term: autosomal recessive chronic granulomatous disease 3
Definition: A chronic granulomatous disease characterized by that autosomal recessive inheritance has_material_basis_in mutation in the NCF4 gene on chromosome 22q12. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/19692703 "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)
Ncf1 ISONCF1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type IIIPMID:11920901 PMID:24446915 PMID:25741868 PMID:33746979
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