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GENE - TERM ANNOTATION REPORT

RGD ID: 18620654
Species: Chlorocebus sabaeus
RGD Object: Gene
Symbol: BRDT
Name: bromodomain testis associated
Acc ID: DOID:0112131
Term: severe congenital neutropenia 2
Definition: An autosomal dominant severe congenital neutropenia that has_material_basis_in heterozygous mutation in the GFI1 gene on chromosome 1p22.1. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/12778173/ "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)
BRDT ISOBRDT (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominantPMID:28492532
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