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

4 Annotations Found.

An association has been curated linking Arl13b and Joubert syndrome 8 in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Cantagrel V, etal., Am J Hum Genet. 2008 Aug;83(2):170-9. doi: 10.1016/j.ajhg.2008.06.023.
  • The annotation has been inferred from sequence orthology with ARL13B (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 additional annotations were made from Cantagrel V, etal., Am J Hum Genet. 2008 Aug;83(2):170-9. doi: 10.1016/j.ajhg.2008.06.023.
  • 4 RGD objects have been annotated to Joubert syndrome 8  (DOID:0111003)
  • 11 papers in RGD have been used to annotate Arl13b
  • Curation Notes: DNA:missense mutations, nonsense mutation:p.R79Q, p.R200C, p.W82X (human)


    • An association has been curated linking Arl13b and Joubert syndrome 8 in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with ARL13B (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 RGD objects have been annotated to Joubert syndrome 8  (DOID:0111003)
  • 11 papers in RGD have been used to annotate Arl13b


    • An association has been curated linking Arl13b and Joubert syndrome 8 in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with ARL13B (Homo sapiens) [(EXP) inferred from experiment]
  • 4 RGD objects have been annotated to Joubert syndrome 8  (DOID:0111003)
  • 11 papers in RGD have been used to annotate Arl13b
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking Arl13b and Joubert syndrome 8 in Mus musculus.        

  • 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 ARL13B (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 RGD objects have been annotated to Joubert syndrome 8  (DOID:0111003)
  • 11 papers in RGD have been used to annotate Arl13b
  • Curation Notes: ClinVar Annotator: match by term: Joubert syndrome 8
  • Original References(s): PMID:16199547 PMID:17576681 PMID:18674751 PMID:23150559 PMID:23153492 PMID:24033266 PMID:25138100 PMID:25741868 PMID:26092869 PMID:26132555 PMID:27153923 PMID:28492532 PMID:28787594 PMID:29255182 PMID:34447983 PMID:9536098


    • Go Back to source page   Continue to Ontology report