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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Crybb2 and cataract in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Litt M, etal., Hum Mol Genet. 1997 May;6(5):665-8.
  • The annotation has been inferred from sequence orthology with CRYBB2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Litt M, etal., Hum Mol Genet. 1997 May;6(5):665-8.
  • 446 RGD objects have been annotated to cataract  (DOID:83)
  • 15 papers in RGD have been used to annotate Crybb2
  • Qualifier: susceptibility
  • Curation Notes: congenital cerulean cataract type 2, OMIM:601547;DNA:nonsense mutation


    • An association has been curated linking Crybb2 and cataract in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Vanita, etal., J Med Genet 2001 Jun;38(6):392-6.
  • The annotation has been inferred from sequence orthology with CRYBB2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Vanita, etal., J Med Genet 2001 Jun;38(6):392-6.
  • 446 RGD objects have been annotated to cataract  (DOID:83)
  • 15 papers in RGD have been used to annotate Crybb2
  • Curation Notes: DNA:nonsense mutation: :p.Q155X (human)


    • An association has been curated linking Crybb2 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 CRYBB2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 446 RGD objects have been annotated to cataract  (DOID:83)
  • 15 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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