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GENE - TERM ANNOTATION REPORT

6 Annotations Found.

An association has been curated linking FGFR2 and Conductive hearing impairment in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Kilcoyne S, etal., J Craniofac Surg. 2021 Jan-Feb 01;32(1):134-140. doi: 10.1097/SCS.0000000000007153.
  • 6 additional annotations were made from Kilcoyne S, etal., J Craniofac Surg. 2021 Jan-Feb 01;32(1):134-140. doi: 10.1097/SCS.0000000000007153.
  • 394 RGD objects have been annotated to Conductive hearing impairment  (HP:0000405)
  • 84 papers in RGD have been used to annotate FGFR2
  • Curation Notes: DNA:mutations:CDS:multiple


    • An association has been curated linking FGFR2 and Conductive hearing impairment 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
  • 394 RGD objects have been annotated to Conductive hearing impairment  (HP:0000405)
  • 84 papers in RGD have been used to annotate FGFR2
  • Original References(s): ORPHA:207


    • An association has been curated linking FGFR2 and Conductive hearing impairment 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
  • 394 RGD objects have been annotated to Conductive hearing impairment  (HP:0000405)
  • 84 papers in RGD have been used to annotate FGFR2
  • Original References(s): ORPHA:87


    • An association has been curated linking FGFR2 and Conductive hearing impairment 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
  • 394 RGD objects have been annotated to Conductive hearing impairment  (HP:0000405)
  • 84 papers in RGD have been used to annotate FGFR2
  • Original References(s): ORPHA:2363


    • An association has been curated linking FGFR2 and Conductive hearing impairment 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
  • 394 RGD objects have been annotated to Conductive hearing impairment  (HP:0000405)
  • 84 papers in RGD have been used to annotate FGFR2
  • Original References(s): ORPHA:794


    • An association has been curated linking FGFR2 and Conductive hearing impairment 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
  • 394 RGD objects have been annotated to Conductive hearing impairment  (HP:0000405)
  • 84 papers in RGD have been used to annotate FGFR2
  • Original References(s): OMIM:123500


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