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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking SMAD4 and Short palpebral fissure in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Le Goff C, etal., Nat Genet. 2011 Dec 11;44(1):85-8. doi: 10.1038/ng.1016.
  • 11 additional annotations were made from Le Goff C, etal., Nat Genet. 2011 Dec 11;44(1):85-8. doi: 10.1038/ng.1016.
  • 119 RGD objects have been annotated to Short palpebral fissure  (HP:0012745)
  • 71 papers in RGD have been used to annotate SMAD4
  • Curation Notes: DNA:missense mutations:exon:p.I500T (c.1498A>G), p.I500V, p.I500M


    • An association has been curated linking SMAD4 and Short palpebral fissure in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for human HPO-to-gene-to-disease annotations
  • 119 RGD objects have been annotated to Short palpebral fissure  (HP:0012745)
  • 71 papers in RGD have been used to annotate SMAD4
  • Original References(s): ORPHA:2588


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