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GENE - TERM ANNOTATION REPORT

RGD ID: 1307769
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Ttc8
Name: tetratricopeptide repeat domain 8
Acc ID: DOID:0110130
Term: Bardet-Biedl syndrome 8
Definition: A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the TTC8 gene on chromosome 14q31. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/14520415 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/16308660 "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)
Ttc8 ISOTTC8 (Homo sapiens)7240710OMIM  
Ttc8 ISOTTC8 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Ttc8 ISOTTC8 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Bardet-Biedl syndrome 8 | ClinVar Annotator: match by term: TTC8-related conditionPMID:14520415 PMID:16199547 PMID:16308660 PMID:16877420 PMID:17576681 PMID:19797195 PMID:20177705 PMID:21044901 PMID:21052717 PMID:24033266 PMID:25097241 PMID:25741868 PMID:26401321 PMID:28492532 PMID:28914264 PMID:29030401 PMID:30718709 PMID:30886724 PMID:32962042 PMID:33138063 PMID:33532864 PMID:33964006 PMID:9536098
Ttc8 ISSTtc8 (Mus musculus)13592920MouseDOOMIM:615985 
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