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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking ACAP3 and Shprintzen-Goldberg Craniosynostosis 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:14711124 (Homo sapiens)
  • 70 RGD objects have been annotated to Shprintzen-Goldberg Craniosynostosis  (DOID:9007185)
  • 4 papers in RGD have been used to annotate ACAP3
  • Curation Notes: ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
  • Original References(s): PMID:28492532


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