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GENE - TERM ANNOTATION REPORT

RGD ID: 1310718
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Bbs5
Name: Bardet-Biedl syndrome 5
Acc ID: DOID:0110127
Term: Bardet-Biedl syndrome 5
Definition: A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBS5 gene on chromosome 2q31. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/15137946 "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)
Bbs5 ISOBBS5 (Homo sapiens)7240710OMIM  
Bbs5 ISOBBS5 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: BBS5-related condition | ClinVar Annotator: match by term: Bardet-Biedl syndrome 5PMID:11342895 PMID:15137946 PMID:16199547 PMID:16877420 PMID:17576681 PMID:18203199 PMID:19367329 PMID:19797195 PMID:21052717 PMID:21209035 PMID:22626039 PMID:25741868 PMID:25982971 PMID:26325687 PMID:27708425 PMID:28041643 PMID:28492532 PMID:29806606 PMID:30718709 PMID:31760295 PMID:32451492 PMID:32641690 PMID:33572860 PMID:9536098
Bbs5 ISSBbs5 (Mus musculus)13592920MouseDOOMIM:615983 
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