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

3 Annotations Found.

An association has been curated linking Col2a1 and Hyaloideoretinal Degeneration of Wagner in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Korkko J, etal., Am J Hum Genet. 1993 Jul;53(1):55-61.
  • The annotation has been inferred from sequence orthology with COL2A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 additional annotations were made from Korkko J, etal., Am J Hum Genet. 1993 Jul;53(1):55-61.
  • 2 RGD objects have been annotated to Hyaloideoretinal Degeneration of Wagner  (DOID:9005830)
  • 72 papers in RGD have been used to annotate Col2a1
  • Curation Notes: DNA:missense mutation:exon:p.G67D (human)


    • An association has been curated linking Col2a1 and Hyaloideoretinal Degeneration of Wagner in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Gupta SK, etal., Am J Ophthalmol. 2002 Feb;133(2):203-10.
  • The annotation has been inferred from sequence orthology with COL2A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 additional annotations were made from Gupta SK, etal., Am J Ophthalmol. 2002 Feb;133(2):203-10.
  • 2 RGD objects have been annotated to Hyaloideoretinal Degeneration of Wagner  (DOID:9005830)
  • 72 papers in RGD have been used to annotate Col2a1
  • Curation Notes: DNA:frameshift mutation:exon:p.C57X (human)


    • An association has been curated linking Col2a1 and Hyaloideoretinal Degeneration of Wagner in Rattus norvegicus.        

  • 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 COL2A1 (Homo sapiens) [(EXP) inferred from experiment]
  • 2 RGD objects have been annotated to Hyaloideoretinal Degeneration of Wagner  (DOID:9005830)
  • 72 papers in RGD have been used to annotate Col2a1
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:11812423


    • Go Back to source page   Continue to Ontology report