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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking IRF6 and Congenital Limb Deformities in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from Kondo S, etal., Nat Genet. 2002 Oct;32(2):285-9. Epub 2002 Sep 3.
  • 14 additional annotations were made from Kondo S, etal., Nat Genet. 2002 Oct;32(2):285-9. Epub 2002 Sep 3.
  • 439 CRRD objects have been annotated to Congenital Limb Deformities  (DOID:9006294)
  • 7 papers in CRRD have been used to annotate IRF6
  • Curation Notes: popliteal pterygium syndrome, OMIM:119500 DNA:nonsense_mutation:CDS:amino acid Q393X

  • This annotation was curated on 2018-06-23 09:00:25.0 by CRRD . For more information contact us

    An association has been curated linking IRF6 and Congenital Limb Deformities in Homo sapiens.        

  • The association was inferred from experiment (EXP)
  •  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • 439 CRRD objects have been annotated to Congenital Limb Deformities  (DOID:9006294)
  • 7 papers in CRRD have been used to annotate IRF6
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:17041601

  • This annotation was curated on 2019-10-08 04:43:51.0 by CRRD . 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.