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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Gja8 and microphthalmia in Rattus norvegicus.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Liska F, etal., Mol Vis. 2008 May 7;14:823-8.
  • 18 additional annotations were made from Liska F, etal., Mol Vis. 2008 May 7;14:823-8.
  • 215 RGD objects have been annotated to microphthalmia  (DOID:10629)
  • 12 papers in RGD have been used to annotate Gja8
  • Curation Notes: DNA:missense mutation:cds:p.L7Q(rat)


    • An association has been curated linking Gja8 and microphthalmia 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 GJA8 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 215 RGD objects have been annotated to microphthalmia  (DOID:10629)
  • 12 papers in RGD have been used to annotate Gja8
  • Curation Notes: ClinVar Annotator: match by term: Microphthalmia
  • Original References(s): PMID:25741868


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