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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Fgfr1 and Congenital Foot Deformities in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Villanueva C, etal., Genet Med. 2015 Aug;17(8):651-9. doi: 10.1038/gim.2014.166. Epub 2014 Nov 13.
  • The annotation has been inferred from sequence orthology with FGFR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Villanueva C, etal., Genet Med. 2015 Aug;17(8):651-9. doi: 10.1038/gim.2014.166. Epub 2014 Nov 13.
  • 175 RGD objects have been annotated to Congenital Foot Deformities  (DOID:9000067)
  • 100 papers in RGD have been used to annotate Fgfr1
  • Curation Notes: associated with Kallmann Syndrome;DNA:missense mutations, nonsense mutation:exon:multiple


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