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GENE - TERM ANNOTATION REPORT

RGD ID: 1309264
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Bbs7
Name: Bardet-Biedl syndrome 7
Acc ID: DOID:0110129
Term: Bardet-Biedl syndrome 7
Definition: A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBS7 gene on chromosome 4q27. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/12567324 "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)
Bbs7 ISOBBS7 (Homo sapiens)7240710OMIM  
Bbs7 ISOBBS7 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Bbs7 ISOBBS7 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: BBS7-related condition | ClinVar Annotator: match by term: Bardet-Biedl syndrome 7PMID:12567324 PMID:16199547 PMID:16308660 PMID:17576681 PMID:19402160 PMID:19797195 PMID:20498079 PMID:21052717 PMID:21209035 PMID:21344540 PMID:21642631 PMID:21937992 PMID:22302990 PMID:22500027 PMID:23462753 PMID:23572516 PMID:23847139 PMID:25553308 PMID:25741868 PMID:26003401 PMID:26325687 PMID:26518167 PMID:27486776 PMID:28492532 PMID:28761321 PMID:29696775 PMID:30614526 PMID:30718709 PMID:30839500 PMID:31196119 PMID:31521835 PMID:32448990 PMID:32531858 PMID:32686083 PMID:33777945 PMID:9536098
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