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GENE - TERM ANNOTATION REPORT

RGD ID: 11768650
Species: Pan paniscus
RGD Object: Gene
Symbol: RAPGEF5
Name: Rap guanine nucleotide exchange factor 5
Acc ID: DOID:9562
Term: primary ciliary dyskinesia
Definition: A ciliopathy that is characterized by impaired function of the cilia lining the respiratory tract (lower and upper, sinuses, Eustachian tube, middle ear) and fallopian tube. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Primary_ciliary_dyskinesia "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)
RAPGEF5 ISORAPGEF5 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Primary ciliary dyskinesiaPMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 PMID:23998934 PMID:28492532
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