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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Pax6 and anterior segment dysgenesis 5 in Chinchilla lanigera.        

  • 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 PAX6 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 18 RGD objects have been annotated to anterior segment dysgenesis 5  (DOID:0080610)
  • 2 papers in RGD have been used to annotate Pax6


  • An association has been curated linking Pax6 and anterior segment dysgenesis 5 in Chinchilla lanigera.        

  • 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 PAX6 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 18 RGD objects have been annotated to anterior segment dysgenesis 5  (DOID:0080610)
  • 2 papers in RGD have been used to annotate Pax6
  • Curation Notes: ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5 | ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5, MULTIPLE SUBTYPES | ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5, PETERS ANOMALY SUBTYPE
  • Original References(s): PMID:10234503 PMID:10441571 PMID:12015275 PMID:1251879 PMID:12634864 PMID:12721955 PMID:12868034 PMID:14561779 PMID:15086958 PMID:15579687 PMID:16199547 PMID:1684738 PMID:17417613 PMID:18483559 PMID:18776953 PMID:1954207 PMID:20577777 PMID:22361317 PMID:22692063 PMID:25741868 PMID:26604670 PMID:26661695 PMID:28321846 PMID:28488383 PMID:28492532 PMID:31161946 PMID:6988567 PMID:8364574 PMID:9727514 PMID:9792406


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