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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Col2a1 and Hyaloideoretinal Degeneration of Wagner in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Korkko J, etal., Am J Hum Genet. 1993 Jul;53(1):55-61.
  • The annotation has been inferred from sequence orthology with COL2A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 additional annotations were made from Korkko J, etal., Am J Hum Genet. 1993 Jul;53(1):55-61.
  • 2 RGD objects have been annotated to Hyaloideoretinal Degeneration of Wagner  (DOID:9005830)
  • 72 papers in RGD have been used to annotate Col2a1
  • Curation Notes: DNA:missense mutation:exon:p.G67D (human)


    • An association has been curated linking Col2a1 and Hyaloideoretinal Degeneration of Wagner in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Gupta SK, etal., Am J Ophthalmol. 2002 Feb;133(2):203-10.
  • The annotation has been inferred from sequence orthology with COL2A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 additional annotations were made from Gupta SK, etal., Am J Ophthalmol. 2002 Feb;133(2):203-10.
  • 2 RGD objects have been annotated to Hyaloideoretinal Degeneration of Wagner  (DOID:9005830)
  • 72 papers in RGD have been used to annotate Col2a1
  • Curation Notes: DNA:frameshift mutation:exon:p.C57X (human)


    • An association has been curated linking Col2a1 and Hyaloideoretinal Degeneration of Wagner 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 Hyaloideoretinal Degeneration of Wagner  (DOID:9005830)
  • 72 papers in RGD have been used to annotate Col2a1
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:11812423


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