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GENE - TERM ANNOTATION REPORT

RGD ID: 2679
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Gfap
Name: glial fibrillary acidic protein
Acc ID: DOID:0110621
Term: primary ciliary dyskinesia 17
Definition: A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, early infantile onset of respiratory distress, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the CCDC103 gene on chromosome 17q21. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/22581229 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/26998415 "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)
Gfap ISOGFAP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Primary ciliary dyskinesia 17 
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