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GENE - TERM ANNOTATION REPORT

RGD ID: 14240030
Species: Sus scrofa
RGD Object: Gene
Symbol: FAM163A
Name: family with sequence similarity 163 member A
Acc ID: DOID:0070191
Term: autosomal recessive chronic granulomatous disease 2
Definition: A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the NCF2 gene on chromosome 1q25. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/7795241 "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)
FAM163A ISOFAM163A (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2PMID:28492532
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