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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Col10a1 and osteochondrodysplasia in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from McIntosh I, etal., Hum Mol Genet. 1994 Feb;3(2):303-7.
  • The annotation has been inferred from sequence orthology with COL10A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from McIntosh I, etal., Hum Mol Genet. 1994 Feb;3(2):303-7.
  • 860 RGD objects have been annotated to osteochondrodysplasia  (DOID:2256)
  • 17 papers in RGD have been used to annotate Col10a1
  • Qualifier: susceptibility
  • Curation Notes: Schmid metaphyseal chondrodysplasia, OMIM:156500;DNA:deletion mutations, missense mutation: :1856delC, 1992delCT, p.C591R


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