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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Foxl2 and Blepharophimosis Syndrome Type 2 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 FOXL2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Blepharophimosis Syndrome Type 2  (DOID:9007148)
  • 2 papers in RGD have been used to annotate Foxl2
  • Curation Notes: ClinVar Annotator: match by term: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE II | ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus without premature ovarian failure
  • Original References(s): PMID:11175783 PMID:11468277 PMID:11776388 PMID:12400065 PMID:12529855 PMID:12630957 PMID:12938087 PMID:16283882 PMID:17277738 PMID:18372316 PMID:18484667 PMID:21325395 PMID:25741868 PMID:28492532


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