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 Col2a1 and Torrance type platyspondylic dysplasia in Rattus norvegicus.        

  • 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 COL2A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Torrance type platyspondylic dysplasia  (DOID:0111508)
  • 72 papers in RGD have been used to annotate Col2a1


    • An association has been curated linking Col2a1 and Torrance type platyspondylic dysplasia in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Furuichi T, etal., Mamm Genome. 2011 Jun;22(5-6):318-28. doi: 10.1007/s00335-011-9329-3. Epub 2011 May 3.
  • The annotation has been inferred from sequence orthology with Col2a1 (Mus musculus) [(IMP) inferred from mutant phenotype]
  • 2 additional annotations were made from Furuichi T, etal., Mamm Genome. 2011 Jun;22(5-6):318-28. doi: 10.1007/s00335-011-9329-3. Epub 2011 May 3.
  • 2 RGD objects have been annotated to Torrance type platyspondylic dysplasia  (DOID:0111508)
  • 72 papers in RGD have been used to annotate Col2a1
  • Curation Notes: DNA:mutation:cds:c.44406A>C (p.D1469A)(mouse)


    • An association has been curated linking Col2a1 and Torrance type platyspondylic dysplasia 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 Torrance type platyspondylic dysplasia  (DOID:0111508)
  • 72 papers in RGD have been used to annotate Col2a1
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking Col2a1 and Torrance type platyspondylic dysplasia 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 COL2A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Torrance type platyspondylic dysplasia  (DOID:0111508)
  • 72 papers in RGD have been used to annotate Col2a1
  • Curation Notes: ClinVar Annotator: match by term: Platyspondylic dysplasia, Torrance type | ClinVar Annotator: match by term: Thanatophoric dysplasia torrance variant
  • Original References(s): PMID:14729840 PMID:15266623 PMID:17078022 PMID:17347327 PMID:17726487 PMID:18272325 PMID:18276201 PMID:19344236 PMID:21442341 PMID:22791362 PMID:25504618 PMID:25592122 PMID:25604898 PMID:25741868 PMID:25741869 PMID:26037341 PMID:26443184 PMID:26467025 PMID:26633542 PMID:28492532 PMID:35052477 PMID:7695699 PMID:7977371 PMID:8218237 PMID:8702139 PMID:8893763 PMID:9016532


    • Go Back to source page   Continue to Ontology report