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GENE - TERM ANNOTATION REPORT

RGD ID: 1622272
Species: Mus musculus
RGD Object: Gene
Symbol: Bbs10
Name: Bardet-Biedl syndrome 10
Acc ID: DOID:0110132
Term: Bardet-Biedl syndrome 10
Definition: A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the BBS10 gene on chromosome 12q21. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/16582908 "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)
Bbs10 ISOBBS10 (Homo sapiens)7240710OMIM  
Bbs10 ISOBBS10 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Bbs10 ISOBBS10 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: BBS10-related condition | ClinVar Annotator: match by term: Bardet-Biedl syndrome 10 | ClinVar Annotator: match by term: Bardet-biedl syndrome 1/10, digenicPMID:16582908 PMID:16823392 PMID:17106446 PMID:17576681 PMID:17980398 PMID:19190184 PMID:19797195 PMID:20080638 PMID:20120035 PMID:20177705 PMID:20472660 PMID:20498079 PMID:20805367 PMID:20876674 PMID:21044901 PMID:21052717 PMID:21157496 PMID:21209035 PMID:21344540 PMID:21463199 PMID:21517826 PMID:21642631 PMID:22353939 PMID:22410627 PMID:22773737 PMID:22958920 PMID:22995991 PMID:23591405 PMID:24033266 PMID:24041679 PMID:24400638 PMID:24488770 PMID:24611592 PMID:24746959 PMID:25133751 PMID:25170860 PMID:25326635 PMID:25366773 PMID:25412400 PMID:25439097 PMID:25741868 PMID:25966130 PMID:25982971 PMID:25988237 PMID:26003401 PMID:26273430 PMID:26467025 PMID:26518167 PMID:27032803 PMID:27245532 PMID:27385962 PMID:27449316 PMID:27486776 PMID:27533158 PMID:27659767 PMID:27788217 PMID:27959697 PMID:28041643 PMID:28143435 PMID:28492532 PMID:28808579 PMID:29261186 PMID:29806606 PMID:30335236 PMID:30408610 PMID:30614526 PMID:30718709 PMID:31196119 PMID:31639430 PMID:32448990 PMID:32531858 PMID:33964006 PMID:34940782 PMID:35112343 PMID:36312387 PMID:9536098
Bbs10 IAGP 13592920MouseDOOMIM:615987 
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