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GENE - TERM ANNOTATION REPORT

14 Annotations Found.

An association has been curated linking Pax6 and aniridia in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Axton R, etal., J Med Genet. 1997 Apr;34(4):279-86.
  • The annotation has been inferred from sequence orthology with PAX6 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Axton R, etal., J Med Genet. 1997 Apr;34(4):279-86.
  • 24 RGD objects have been annotated to aniridia  (DOID:12271)
  • 74 papers in RGD have been used to annotate Pax6
  • Curation Notes: DNA:mutations:exon, intron:multiple (human)


  • An association has been curated linking Pax6 and aniridia in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Chen JH, etal., Mol Vis. 2012;18:989-95. Epub 2012 Apr 21.
  • The annotation has been inferred from sequence orthology with PAX6 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 6 additional annotations were made from Chen JH, etal., Mol Vis. 2012;18:989-95. Epub 2012 Apr 21.
  • 24 RGD objects have been annotated to aniridia  (DOID:12271)
  • 74 papers in RGD have been used to annotate Pax6
  • Curation Notes: DNA:frameshift mutation:cds:p.P418SfsX87 (human)


  • An association has been curated linking Pax6 and aniridia in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with PAX6 (Homo sapiens) [(EXP) inferred from experiment]
  • 24 RGD objects have been annotated to aniridia  (DOID:12271)
  • 74 papers in RGD have been used to annotate Pax6
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:18322702 PMID:30221735


  • An association has been curated linking Pax6 and aniridia in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Jin C, etal., Mol Vis. 2012;18:465-70. Epub 2012 Feb 16.
  • The annotation has been inferred from sequence orthology with PAX6 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 8 additional annotations were made from Jin C, etal., Mol Vis. 2012;18:465-70. Epub 2012 Feb 16.
  • 24 RGD objects have been annotated to aniridia  (DOID:12271)
  • 74 papers in RGD have been used to annotate Pax6
  • Curation Notes: associated with Cataract;DNA:nonsense mutation:cds:p.R103X (human)


  • An association has been curated linking Pax6 and aniridia in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Ramaesh T, etal., Exp Eye Res. 2005 Aug;81(2):224-35.
  • The annotation has been inferred from sequence orthology with Pax6 (Mus musculus) [(IMP) inferred from mutant phenotype]
  • 2 additional annotations were made from Ramaesh T, etal., Exp Eye Res. 2005 Aug;81(2):224-35.
  • 24 RGD objects have been annotated to aniridia  (DOID:12271)
  • 74 papers in RGD have been used to annotate Pax6


  • An association has been curated linking Pax6 and aniridia in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Cai F, etal., Mol Vis. 2010 Jun 22;16:1141-5.
  • The annotation has been inferred from sequence orthology with PAX6 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 additional annotations were made from Cai F, etal., Mol Vis. 2010 Jun 22;16:1141-5.
  • 24 RGD objects have been annotated to aniridia  (DOID:12271)
  • 74 papers in RGD have been used to annotate Pax6
  • Qualifier: susceptibility
  • Curation Notes: DNA:deletion:cds:p.R38PfsX12 (human)


  • An association has been curated linking Pax6 and aniridia in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Lin Y, etal., Mol Vis. 2011;17:3116-20. Epub 2011 Nov 26.
  • The annotation has been inferred from sequence orthology with PAX6 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 6 additional annotations were made from Lin Y, etal., Mol Vis. 2011;17:3116-20. Epub 2011 Nov 26.
  • 24 RGD objects have been annotated to aniridia  (DOID:12271)
  • 74 papers in RGD have been used to annotate Pax6
  • Qualifier: susceptibility
  • Curation Notes: DNA:deletion:cds:p.Q297HfsX68 (human)


  • An association has been curated linking Pax6 and aniridia in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Graw J, etal., Invest Ophthalmol Vis Sci. 2005 Dec;46(12):4671-83.
  • The annotation has been inferred from sequence orthology with Pax6 (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Graw J, etal., Invest Ophthalmol Vis Sci. 2005 Dec;46(12):4671-83.
  • 24 RGD objects have been annotated to aniridia  (DOID:12271)
  • 74 papers in RGD have been used to annotate Pax6
  • Curation Notes: DNA:snps, nonsense mutation:introns, cds:IVS5a+1G>A, IVS8-1G>A, p.Q215X (mouse)


  • An association has been curated linking Pax6 and aniridia in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Chen P, etal., Mol Vis. 2013 May 30;19:1169-77. Print 2013.
  • The annotation has been inferred from sequence orthology with PAX6 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 6 additional annotations were made from Chen P, etal., Mol Vis. 2013 May 30;19:1169-77. Print 2013.
  • 24 RGD objects have been annotated to aniridia  (DOID:12271)
  • 74 papers in RGD have been used to annotate Pax6
  • Qualifier: susceptibility
  • Curation Notes: DNA:deletion, snp:cds:p.R38GfsX16, p.S121L (human)


  • An association has been curated linking Pax6 and aniridia in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Kang Y, etal., Mol Vis. 2012;18:1750-4. Epub 2012 Jun 27.
  • The annotation has been inferred from sequence orthology with PAX6 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 additional annotations were made from Kang Y, etal., Mol Vis. 2012;18:1750-4. Epub 2012 Jun 27.
  • 24 RGD objects have been annotated to aniridia  (DOID:12271)
  • 74 papers in RGD have been used to annotate Pax6
  • Qualifier: susceptibility
  • Curation Notes: DNA:nonsense mutation:cds:p.R240X (human)


  • An association has been curated linking Pax6 and aniridia in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Abouzeid H, etal., Mol Vis. 2009 Oct 17;15:2074-83.
  • The annotation has been inferred from sequence orthology with PAX6 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 6 additional annotations were made from Abouzeid H, etal., Mol Vis. 2009 Oct 17;15:2074-83.
  • 24 RGD objects have been annotated to aniridia  (DOID:12271)
  • 74 papers in RGD have been used to annotate Pax6
  • Curation Notes: DNA:deletions:cds:c.170-174delTGGGC, c.475delC (human)


  • An association has been curated linking Pax6 and aniridia in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Cao X, etal., Genet Mol Res. 2014 Oct 27;13(4):8679-85. doi: 10.4238/2014.October.27.8.
  • The annotation has been inferred from sequence orthology with PAX6 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Cao X, etal., Genet Mol Res. 2014 Oct 27;13(4):8679-85. doi: 10.4238/2014.October.27.8.
  • 24 RGD objects have been annotated to aniridia  (DOID:12271)
  • 74 papers in RGD have been used to annotate Pax6
  • Curation Notes: associated with Nystagmus, Congenital;DNA:insertion:exon:c.888insA(human)


  • An association has been curated linking Pax6 and aniridia in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with PAX6 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 24 RGD objects have been annotated to aniridia  (DOID:12271)
  • 74 papers in RGD have been used to annotate Pax6
  • Curation Notes: ClinVar Annotator: match by term: Aniridia, atypical | ClinVar Annotator: match by term: Congenital aniridia
  • Original References(s): PMID:14744876 PMID:17417613 PMID:18776953 PMID:25741868 PMID:27013732 PMID:28492532 PMID:9931324


  • An association has been curated linking Pax6 and aniridia in Rattus norvegicus.        

  • The association was inferred from sequence or structural similarity (ISS)
  •  
  • The annotation was made from RGD automated import pipeline for MGI gene-to-disease annotations
  • The annotation has been inferred from sequence or structural similarity with Pax6 (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 24 RGD objects have been annotated to aniridia  (DOID:12271)
  • 74 papers in RGD have been used to annotate Pax6
  • Curation Notes: OMIM:106210


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