Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Col1a1 and osteogenesis imperfecta type 2C 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 COL1A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to osteogenesis imperfecta type 2C  (DOID:9002369)
  • 138 papers in RGD have been used to annotate Col1a1
  • Curation Notes: ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE IIC
  • Original References(s): PMID:1613761


  • Go Back to source page   Continue to Ontology report