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GENE - TERM ANNOTATION REPORT

RGD ID: 1310693
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Rsph9
Name: radial spoke head component 9
Acc ID: DOID:0110601
Term: primary ciliary dyskinesia 12
Definition: A primary ciliary dyskinesia that is characterized by reduced exercise tolerance, chronic wet cough, recurrent respiratory infections, bronchiectasis, and nasal symptoms, and has_material_basis_in homozygous mutation in the RSPH9 gene on chromosome 6p21. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/19200523 "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)
Rsph9 ISORSPH9 (Homo sapiens)7240710OMIM  
Rsph9 ISORSPH9 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Rsph9 ISORSPH9 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 12, WITHOUT SITUS INVERSUS | ClinVar Annotator: match by term: Primary ciliary dyskinesia 12PMID:19200523 PMID:23993197 PMID:24033266 PMID:25741868 PMID:28492532
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