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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking ESR1 and arthrogryposis multiplex congenita-3 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:14698082 (Homo sapiens)
  • 4 RGD objects have been annotated to arthrogryposis multiplex congenita-3  (DOID:0080979)
  • 103 papers in RGD have been used to annotate ESR1
  • Curation Notes: ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 3, myogenic type
  • Original References(s): PMID:25741868 PMID:27782104


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