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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Gja3 and cataract in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Yoshida M, etal., Pathol Int. 2005 Nov;55(11):732-7.
  • The annotation has been inferred from sequence orthology with Gja3 (Rattus norvegicus) [(IAGP) inferred by association of genotype and phenotype]
  • 3 additional annotations were made from Yoshida M, etal., Pathol Int. 2005 Nov;55(11):732-7.
  • 491 RGD objects have been annotated to cataract  (DOID:83)
  • 10 papers in RGD have been used to annotate Gja3
  • Curation Notes: DNA:missense mutation


    • An association has been curated linking Gja3 and cataract in Mus musculus.        

  • 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 GJA3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 491 RGD objects have been annotated to cataract  (DOID:83)
  • 10 papers in RGD have been used to annotate Gja3
  • Curation Notes: ClinVar Annotator: match by term: Congenital cataract
  • Original References(s): PMID:15208569 PMID:16885921 PMID:17615540 PMID:19182255 PMID:21031021 PMID:21866213 PMID:22843197 PMID:25148791 PMID:25741868 PMID:26694549 PMID:27609163 PMID:28492532 PMID:28839118 PMID:29461512 PMID:29934635 PMID:34169787 PMID:36161833


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