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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Fgfr1 and Hypogonadotropic Hypogonadism and Anosmia, Autosomal Dominant in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Trarbach EB, etal., J Clin Endocrinol Metab. 2006 Oct;91(10):4006-12. Epub 2006 Aug 1.
  • 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 Trarbach EB, etal., J Clin Endocrinol Metab. 2006 Oct;91(10):4006-12. Epub 2006 Aug 1.
  • 1 RGD objects have been annotated to Hypogonadotropic Hypogonadism and Anosmia, Autosomal Dominant  (DOID:9001871)
  • 100 papers in RGD have been used to annotate Fgfr1
  • Curation Notes: DNA:frameshift mutation, missense mutations: :multiple


    • An association has been curated linking Fgfr1 and Hypogonadotropic Hypogonadism and Anosmia, Autosomal Dominant in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Pitteloud N, etal., Mol Cell Endocrinol. 2006 Jul 25;254-255:60-9. Epub 2006 Jun 9.
  • 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 Pitteloud N, etal., Mol Cell Endocrinol. 2006 Jul 25;254-255:60-9. Epub 2006 Jun 9.
  • 1 RGD objects have been annotated to Hypogonadotropic Hypogonadism and Anosmia, Autosomal Dominant  (DOID:9001871)
  • 100 papers in RGD have been used to annotate Fgfr1
  • Curation Notes: DNA:missense mutations, nonsense mutations:exon:multiple


    • An association has been curated linking Fgfr1 and Hypogonadotropic Hypogonadism and Anosmia, Autosomal Dominant in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Sato N, etal., Hum Reprod. 2005 Aug;20(8):2173-8. Epub 2005 Apr 21.
  • 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 Sato N, etal., Hum Reprod. 2005 Aug;20(8):2173-8. Epub 2005 Apr 21.
  • 1 RGD objects have been annotated to Hypogonadotropic Hypogonadism and Anosmia, Autosomal Dominant  (DOID:9001871)
  • 100 papers in RGD have been used to annotate Fgfr1
  • Curation Notes: DNA:missense mutation, nonsense mutation:exon:p.S107X (320C>A), p.G687R (2059G>A) (human)


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