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GENE - TERM ANNOTATION REPORT

RGD ID: 1560828
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Dnah5
Name: dynein, axonemal, heavy chain 5
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)
Dnah5susceptibilityISODNAH5 (Homo sapiens)1601080RGDDNA:mutations 
Dnah5 ISODNAH5 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Kartagener syndromePMID:11788826 PMID:16627867 PMID:19357118 PMID:19630565 PMID:23477994 PMID:25741868 PMID:28492532 PMID:30067075 PMID:31443223
Dnah5 ISSDnah5 (Mus musculus)13592920MouseDO  
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