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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Crybb1 and cataract in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Mackay DS, etal., Am J Hum Genet 2002 Nov;71(5):1216-21.
  • The annotation has been inferred from sequence orthology with CRYBB1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Mackay DS, etal., Am J Hum Genet 2002 Nov;71(5):1216-21.
  • 545 RGD objects have been annotated to cataract  (DOID:83)
  • 12 papers in RGD have been used to annotate Crybb1
  • Curation Notes: DNA:nonsense mutation:cds:p.G220X (human)


    • An association has been curated linking Crybb1 and cataract 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 CRYBB1 (Homo sapiens) [(EXP) inferred from experiment]
  • 545 RGD objects have been annotated to cataract  (DOID:83)
  • 12 papers in RGD have been used to annotate Crybb1
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:12360425


    • An association has been curated linking Crybb1 and cataract 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 CRYBB1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 545 RGD objects have been annotated to cataract  (DOID:83)
  • 12 papers in RGD have been used to annotate Crybb1
  • Curation Notes: ClinVar Annotator: match by term: Congenital cataract
  • Original References(s): PMID:25741868 PMID:26694549 PMID:28272538


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