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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking Col2a1 and osteochondrodysplasia 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]
  • 860 RGD objects have been annotated to osteochondrodysplasia  (DOID:2256)
  • 72 papers in RGD have been used to annotate Col2a1
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:8486375


    • An association has been curated linking Col2a1 and osteochondrodysplasia in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Liang G, etal., PLoS One. 2014 Jan 27;9(1):e86894. doi: 10.1371/journal.pone.0086894. eCollection 2014.
  • The annotation has been inferred from sequence orthology with Col2a1 (Mus musculus) [(IMP) inferred from mutant phenotype]
  • 2 additional annotations were made from Liang G, etal., PLoS One. 2014 Jan 27;9(1):e86894. doi: 10.1371/journal.pone.0086894. eCollection 2014.
  • 860 RGD objects have been annotated to osteochondrodysplasia  (DOID:2256)
  • 72 papers in RGD have been used to annotate Col2a1
  • Curation Notes: DNA:mutation:cds:p.G1170S(mouse)


    • An association has been curated linking Col2a1 and osteochondrodysplasia in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Sahlman J, etal., Arthritis Rheum. 2004 Oct;50(10):3153-60.
  • The annotation has been inferred from sequence orthology with COL2A1 (Homo sapiens) [(IMP) inferred from mutant phenotype]
  • 2 additional annotations were made from Sahlman J, etal., Arthritis Rheum. 2004 Oct;50(10):3153-60.
  • 860 RGD objects have been annotated to osteochondrodysplasia  (DOID:2256)
  • 72 papers in RGD have been used to annotate Col2a1
  • Curation Notes: DNA:missense mutation:cds:p.R519C(human)


    • An association has been curated linking Col2a1 and osteochondrodysplasia 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]
  • 860 RGD objects have been annotated to osteochondrodysplasia  (DOID:2256)
  • 72 papers in RGD have been used to annotate Col2a1
  • Curation Notes: ClinVar Annotator: match by term: Skeletal dysplasia
  • Original References(s): PMID:25741868


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