Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking FBN1 and Ectopia Lentis in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from Zhai Y, etal., Int J Ophthalmol. 2015 Oct 18;8(5):855-9. doi: 10.3980/j.issn.2222-3959.2015.05.01. eCollection 2015.
  • 2 additional annotations were made from Zhai Y, etal., Int J Ophthalmol. 2015 Oct 18;8(5):855-9. doi: 10.3980/j.issn.2222-3959.2015.05.01. eCollection 2015.
  • 7 CRRD objects have been annotated to Ectopia Lentis  (DOID:9004201)
  • 61 papers in CRRD have been used to annotate FBN1
  • Curation Notes: DNA:missense mutation:exon:p.C102Y (c.305G>A) (human)


  • An association has been curated linking Fbn1 and Ectopia Lentis in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Zhai Y, etal., Int J Ophthalmol. 2015 Oct 18;8(5):855-9. doi: 10.3980/j.issn.2222-3959.2015.05.01. eCollection 2015.
  • The annotation has been inferred from sequence orthology with FBN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Zhai Y, etal., Int J Ophthalmol. 2015 Oct 18;8(5):855-9. doi: 10.3980/j.issn.2222-3959.2015.05.01. eCollection 2015.
  • 7 CRRD objects have been annotated to Ectopia Lentis  (DOID:9004201)
  • 66 papers in CRRD have been used to annotate Fbn1
  • Curation Notes: DNA:missense mutation:exon:p.C102Y (c.305G>A) (human)


  • An association has been curated linking Fbn1 and Ectopia Lentis in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Zhai Y, etal., Int J Ophthalmol. 2015 Oct 18;8(5):855-9. doi: 10.3980/j.issn.2222-3959.2015.05.01. eCollection 2015.
  • The annotation has been inferred from sequence orthology with FBN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Zhai Y, etal., Int J Ophthalmol. 2015 Oct 18;8(5):855-9. doi: 10.3980/j.issn.2222-3959.2015.05.01. eCollection 2015.
  • 7 CRRD objects have been annotated to Ectopia Lentis  (DOID:9004201)
  • 61 papers in CRRD have been used to annotate Fbn1
  • Curation Notes: DNA:missense mutation:exon:p.C102Y (c.305G>A) (human)


  • Go Back to source page   Continue to Ontology report



    NHLBI Logo

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