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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking CRYBB2 and cataract in Chlorocebus sabaeus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Automated assignment of GO, PW and RDO ISO annotations across species
  • The annotation has been inferred from sequence orthology with CRYBB2 (Homo sapiens)
  • 402 RGD objects have been annotated to cataract  (DOID:83)
  • 0 papers in RGD have been used to annotate CRYBB2
  • Qualifier: susceptibility
  • Curation Notes: congenital cerulean cataract type 2, OMIM:601547;DNA:nonsense mutation
  • Original References(s): PMID:9158139 REF_RGD_ID:1601011


    • An association has been curated linking CRYBB2 and cataract in Chlorocebus sabaeus.        

  • 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 CRYBB2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 402 RGD objects have been annotated to cataract  (DOID:83)
  • 0 papers in RGD have been used to annotate CRYBB2
  • Curation Notes: ClinVar Annotator: match by term: Congenital cataract
  • Original References(s): PMID:10634616 PMID:11424921 PMID:15889016 PMID:17234267 PMID:2240043 PMID:25741868 PMID:26694549 PMID:27385965 PMID:28492532 PMID:29395391 PMID:8812489 PMID:9158139


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