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GENE - TERM ANNOTATION REPORT

RGD ID: 1549760
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Dnaaf4
Name: dynein axonemal assembly factor 4
Acc ID: DOID:0110615
Term: primary ciliary dyskinesia 25
Definition: A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, decreased fertility and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the DYX1C1 gene on chromosome 15q21. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/23872636 "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)
Dnaaf4 ISODNAAF4 (Homo sapiens)7240710OMIM  
Dnaaf4 ISODNAAF4 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Dnaaf4 ISODNAAF4 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: DNAAF4-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 25PMID:12954984 PMID:23872636 PMID:24033266 PMID:24824133 PMID:25186273 PMID:25741868 PMID:26139845 PMID:28492532 PMID:30067075 PMID:30290127 PMID:33760720
Dnaaf4 ISSDnaaf4 (Mus musculus)13592920MouseDOOMIM:615482 
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