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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Ppp2r3c and Myoectodermal Gonadal Dysgenesis Syndrome in Rattus norvegicus.        

  • 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 PPP2R3C (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Myoectodermal Gonadal Dysgenesis Syndrome  (DOID:9002447)
  • 5 papers in RGD have been used to annotate Ppp2r3c


  • An association has been curated linking Ppp2r3c and Myoectodermal Gonadal Dysgenesis Syndrome 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 PPP2R3C (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Myoectodermal Gonadal Dysgenesis Syndrome  (DOID:9002447)
  • 5 papers in RGD have been used to annotate Ppp2r3c
  • Curation Notes: ClinVar Annotator: match by term: Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
  • Original References(s): PMID:25741868 PMID:30893644


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