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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking SOX2 and syndromic microphthalmia 3 in Sus scrofa.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with SOX2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 12 RGD objects have been annotated to syndromic microphthalmia 3  (DOID:0111801)
  • 0 papers in RGD have been used to annotate SOX2


  • An association has been curated linking SOX2 and syndromic microphthalmia 3 in Sus scrofa.        

  • 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 SOX2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 12 RGD objects have been annotated to syndromic microphthalmia 3  (DOID:0111801)
  • 0 papers in RGD have been used to annotate SOX2
  • Curation Notes: ClinVar Annotator: match by term: Anophthalmia microphthalmia esophageal atresia | ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome
  • Original References(s): PMID:12002146 PMID:12612584 PMID:15346919 PMID:15389708 PMID:15812812 PMID:16145681 PMID:16283891 PMID:16470798 PMID:16543359 PMID:16712695 PMID:16892407 PMID:16932809 PMID:17219395 PMID:17522144 PMID:18285410 PMID:18385377 PMID:18385794 PMID:18831064 PMID:19254784 PMID:19921648 PMID:20803647 PMID:21326281 PMID:22171155 PMID:22421044 PMID:23701296 PMID:24498598 PMID:24804704 PMID:25542770 PMID:25741868 PMID:26250054 PMID:26938784 PMID:27206652 PMID:27427475 PMID:28121235 PMID:28492532 PMID:30450772 PMID:32870266 PMID:33914258 PMID:34367232 PMID:35885948


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