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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Smad4 and Acro-Osteolysis in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
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  • The annotation was made from Lamireau T, etal., J Pediatr Gastroenterol Nutr. 2005 Jul;41(1):117-20.
  • The annotation has been inferred from sequence orthology with SMAD4 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Lamireau T, etal., J Pediatr Gastroenterol Nutr. 2005 Jul;41(1):117-20.
  • 20 RGD objects have been annotated to Acro-Osteolysis  (DOID:9001402)
  • 92 papers in RGD have been used to annotate Smad4
  • Curation Notes: associated with Juvenile Polyposis Syndrome;DNA:nonsense mutation:exon:p.Y412X (1236C>G) (human)


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