Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Ttc8 and Bardet-Biedl syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Ansley SJ, etal., Nature. 2003 Oct 9;425(6958):628-33. Epub 2003 Sep 21.
  • The annotation has been inferred from sequence orthology with TTC8 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Ansley SJ, etal., Nature. 2003 Oct 9;425(6958):628-33. Epub 2003 Sep 21.
  • 233 RGD objects have been annotated to Bardet-Biedl syndrome  (DOID:1935)
  • 6 papers in RGD have been used to annotate Ttc8
  • Qualifier: susceptibility
  • Curation Notes: DNA:deletions:exon, splice junction :p.E187_Y188del, IVS10+2_+4delTGC


    • An association has been curated linking Ttc8 and Bardet-Biedl syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with TTC8 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 233 RGD objects have been annotated to Bardet-Biedl syndrome  (DOID:1935)
  • 6 papers in RGD have been used to annotate Ttc8
  • Curation Notes: ClinVar Annotator: match by term: Bardet-Biedl syndrome
  • Original References(s): PMID:14520415 PMID:16199547 PMID:16308660 PMID:16877420 PMID:17576681 PMID:19797195 PMID:20177705 PMID:21044901 PMID:21052717 PMID:24033266 PMID:25097241 PMID:25741868 PMID:25999674 PMID:26401321 PMID:28492532 PMID:28914264 PMID:29030401 PMID:30718709 PMID:30886724 PMID:31736247 PMID:31852928 PMID:32962042 PMID:33138063 PMID:33587123 PMID:33964006 PMID:9536098


    • Go Back to source page   Continue to Ontology report