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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Ebp and chondrodysplasia punctata in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Derry JM, etal., Nat Genet 1999 Jul;22(3):286-90.
  • The annotation has been inferred from sequence orthology with EBP (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Derry JM, etal., Nat Genet 1999 Jul;22(3):286-90.
  • 7 RGD objects have been annotated to chondrodysplasia punctata  (DOID:2581)
  • 13 papers in RGD have been used to annotate Ebp
  • Curation Notes: CDPX2, OMIM:302960;DNA:point mutation:exon:W29X, R63X


  • An association has been curated linking Ebp and chondrodysplasia punctata 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 EBP (Homo sapiens) [(EXP) inferred from experiment]
  • 7 RGD objects have been annotated to chondrodysplasia punctata  (DOID:2581)
  • 13 papers in RGD have been used to annotate Ebp
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:18176751


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