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GENE - TERM ANNOTATION REPORT

RGD ID: 1558622
Species: Mus musculus
RGD Object: Gene
Symbol: Dnah5
Name: dynein, axonemal, heavy chain 5
Acc ID: DOID:0110599
Term: primary ciliary dyskinesia 3
Definition: A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, ciliary akinesia and variable occurence of situs inversus and has_material_basis_in homozygous or compound heterozygous mutation in the DNAH5 gene on chromosome 5p15. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/11788826 "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)
Dnah5 ISODNAH5 (Homo sapiens)7240710OMIM  
Dnah5 ISODNAH5 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Dnah5 ISODNAH5 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: DNAH5-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 3PMID:11062149 PMID:11788826 PMID:11912187 PMID:15750039 PMID:16199547 PMID:16492982 PMID:16627867 PMID:17534128 PMID:17576681 PMID:18492703 PMID:18950741 PMID:19357118 PMID:19630565 PMID:20301301 PMID:2127064 PMID:21270641 PMID:22416021 PMID:22499950 PMID:23261302 PMID:23477994 PMID:2389146 PMID:23891469 PMID:24033266 PMID:24150548 PMID:24448499 PMID:24498942 PMID:25066065 PMID:25118008 PMID:25186273 PMID:25326635 PMID:25326637 PMID:25741868 PMID:25802884 PMID:26139845 PMID:26228299 PMID:26373788 PMID:26918822 PMID:26938784 PMID:27637300 PMID:27779714 PMID:28492532 PMID:29089047 PMID:29363216 PMID:29402277 PMID:29453417 PMID:30067075 PMID:30293990 PMID:30300419 PMID:31213628 PMID:31443223 PMID:31589614 PMID:31624253 PMID:31638833 PMID:31772028 PMID:31879361 PMID:32357925 PMID:32367404 PMID:32502479 PMID:32502767 PMID:33574797 PMID:33589394 PMID:33635012 PMID:9536098
Dnah5 IAGP 13592920MouseDOOMIM:608644 
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