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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Fgfr1 and Congenital Foot Deformities in Mus musculus.        

  • 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.
  • 67 RGD objects have been annotated to Congenital Foot Deformities  (DOID:9000067)
  • 61 papers in RGD have been used to annotate Fgfr1
  • Curation Notes: associated with Kallmann Syndrome;DNA:missense mutations, nonsense mutation:exon:multiple

  • This annotation was curated on 2018-06-23 09:00:23.0 by RGD . For more information contact us

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    RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.