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GENE - TERM ANNOTATION REPORT

RGD ID: 18910836
Species: Heterocephalus glaber
RGD Object: Gene
Symbol: Dnaaf11
Name: dynein axonemal assembly factor 11
Acc ID: DOID:0050144
Term: Kartagener syndrome
Definition: A primary ciliary dyskinesia that is characterized by sinusitis, bronchiectasis and situs inversus with dextrocardia resulting from dysfunction of the cilia during embryologic development. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Situs_inversus#Kartagener_syndrome "DO" "DO", http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C84797 "DO" "DO", http://rarediseases.info.nih.gov/gard/6815/kartagener-syndrome/resources/1 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/19529061 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/23243352 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/24019633 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/25633235 "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)
Dnaaf11 ISODNAAF11 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Kartagener syndromePMID:23122589 PMID:23891469 PMID:24307375 PMID:26139845 PMID:28492532
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