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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Exosc2 and short stature, hearing loss, retinitis pigmentosa, and distinctive facies in Heterocephalus glaber.        

  • 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 EXOSC2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to short stature, hearing loss, retinitis pigmentosa, and distinctive facies  (DOID:0081175)
  • 0 papers in RGD have been used to annotate Exosc2


    • An association has been curated linking Exosc2 and short stature, hearing loss, retinitis pigmentosa, and distinctive facies in Heterocephalus glaber.        

  • 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 EXOSC2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to short stature, hearing loss, retinitis pigmentosa, and distinctive facies  (DOID:0081175)
  • 0 papers in RGD have been used to annotate Exosc2
  • Curation Notes: ClinVar Annotator: match by term: SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES | ClinVar Annotator: match by term: Short stature, hearing loss, retinitis pigmentosa, and distinctive facies
  • Original References(s): PMID:14647208 PMID:15060126 PMID:24447024 PMID:25741868 PMID:26843489 PMID:28492532 PMID:31628467 PMID:34162742


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