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GENE - TERM ANNOTATION REPORT

11 Annotations Found.

An association has been curated linking CFH and macular degeneration in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Pickering MC, etal., J Exp Med. 2007 Jun 11;204(6):1249-56. Epub 2007 May 21.
  • 18 additional annotations were made from Pickering MC, etal., J Exp Med. 2007 Jun 11;204(6):1249-56. Epub 2007 May 21.
  • 173 RGD objects have been annotated to macular degeneration  (DOID:4448)
  • 60 papers in RGD have been used to annotate CFH
  • Curation Notes: DNA:SNPs,Haplotype::


    • An association has been curated linking CFH and macular degeneration in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Abbas RO and Azzazy HM, Ophthalmic Genet. 2013 Jan 30.
  • 2 additional annotations were made from Abbas RO and Azzazy HM, Ophthalmic Genet. 2013 Jan 30.
  • 173 RGD objects have been annotated to macular degeneration  (DOID:4448)
  • 60 papers in RGD have been used to annotate CFH
  • Qualifier: susceptibility
  • Curation Notes: DNA:SNP: :rs1061170(human)


    • An association has been curated linking CFH and macular degeneration in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Raychaudhuri S, etal., Nat Genet. 2011 Oct 23;43(12):1232-6. doi: 10.1038/ng.976.
  • 2 additional annotations were made from Raychaudhuri S, etal., Nat Genet. 2011 Oct 23;43(12):1232-6. doi: 10.1038/ng.976.
  • 173 RGD objects have been annotated to macular degeneration  (DOID:4448)
  • 60 papers in RGD have been used to annotate CFH


    • An association has been curated linking CFH and macular degeneration in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Arakawa S, etal., Nat Genet. 2011 Sep 11;43(10):1001-4. doi: 10.1038/ng.938.
  • 2 additional annotations were made from Arakawa S, etal., Nat Genet. 2011 Sep 11;43(10):1001-4. doi: 10.1038/ng.938.
  • 173 RGD objects have been annotated to macular degeneration  (DOID:4448)
  • 60 papers in RGD have been used to annotate CFH
  • Curation Notes: DNA:SNP: :rs800292(human)


    • An association has been curated linking CFH and macular degeneration in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Lau LI, etal., Invest Ophthalmol Vis Sci. 2006 Aug;47(8):3242-6.
  • 2 additional annotations were made from Lau LI, etal., Invest Ophthalmol Vis Sci. 2006 Aug;47(8):3242-6.
  • 173 RGD objects have been annotated to macular degeneration  (DOID:4448)
  • 60 papers in RGD have been used to annotate CFH
  • Qualifier: susceptibility
  • Curation Notes: DNA:SNP:cds:p.Y402H(human)


    • An association has been curated linking CFH and macular degeneration in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Gotoh N, etal., Hum Genet. 2006 Aug;120(1):139-43. Epub 2006 May 19.
  • 2 additional annotations were made from Gotoh N, etal., Hum Genet. 2006 Aug;120(1):139-43. Epub 2006 May 19.
  • 173 RGD objects have been annotated to macular degeneration  (DOID:4448)
  • 60 papers in RGD have been used to annotate CFH
  • Qualifier: no_association
  • Curation Notes: DNA:SNP: :rs1061170 (Y402H)(human)


    • An association has been curated linking CFH and macular degeneration in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Cruz-Gonzalez F, etal., Ophthalmic Genet. 2013 Mar 27.
  • 2 additional annotations were made from Cruz-Gonzalez F, etal., Ophthalmic Genet. 2013 Mar 27.
  • 173 RGD objects have been annotated to macular degeneration  (DOID:4448)
  • 60 papers in RGD have been used to annotate CFH
  • Qualifier: susceptibility
  • Curation Notes: DNA:SNP: :rs1410996(human)


    • An association has been curated linking CFH and macular degeneration in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Seddon JM, etal., JAMA. 2007 Apr 25;297(16):1793-800.
  • 2 additional annotations were made from Seddon JM, etal., JAMA. 2007 Apr 25;297(16):1793-800.
  • 173 RGD objects have been annotated to macular degeneration  (DOID:4448)
  • 60 papers in RGD have been used to annotate CFH
  • Qualifier: disease_progression
  • Curation Notes: DNA:SNP:cds:p.Y402H(human)


    • An association has been curated linking CFH and macular degeneration in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Souied EH, etal., Mol Vis. 2005 Dec 19;11:1135-40.
  • 2 additional annotations were made from Souied EH, etal., Mol Vis. 2005 Dec 19;11:1135-40.
  • 173 RGD objects have been annotated to macular degeneration  (DOID:4448)
  • 60 papers in RGD have been used to annotate CFH
  • Qualifier: susceptibility
  • Curation Notes: DNA:SNP:cds:p.Y402H(human)


    • An association has been curated linking CFH and macular degeneration 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
  • 173 RGD objects have been annotated to macular degeneration  (DOID:4448)
  • 60 papers in RGD have been used to annotate CFH
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:16518403 PMID:16754848 PMID:17554167 PMID:21909106 PMID:22019782 PMID:26691988


    • An association has been curated linking CFH and macular degeneration in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:11650218 (Homo sapiens)
  • 173 RGD objects have been annotated to macular degeneration  (DOID:4448)
  • 60 papers in RGD have been used to annotate CFH
  • Curation Notes: ClinVar Annotator: match by term: Macular degeneration


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