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GENE - TERM ANNOTATION REPORT

RGD ID: 12681882
Species: Ictidomys tridecemlineatus
RGD Object: Gene
Symbol: Flna
Name: filamin A
Acc ID: DOID:7400
Term: Nijmegen breakage syndrome
Definition: A syndrome characterized by chromosomal instability, microcephaly, growth retardation, immunodeficiency, cellular hypersensitivity to X-rays, and predisposition to cancer that has_material_basis_in homozygous or compound heterozygous mutation in NBN on chromosome 8q21.3. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/3277755 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/9042920 "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)
Flna ISOFLNA (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Microcephaly, normal intelligence and immunodeficiencyPMID:18414213 PMID:25677497 PMID:25741868 PMID:28492532
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