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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking Foxc1 and Axenfeld-Rieger syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Mortemousque B, etal., Arch Ophthalmol. 2004 Oct;122(10):1527-33.
  • The annotation has been inferred from sequence orthology with FOXC1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Mortemousque B, etal., Arch Ophthalmol. 2004 Oct;122(10):1527-33.
  • 36 RGD objects have been annotated to Axenfeld-Rieger syndrome  (DOID:14686)
  • 15 papers in RGD have been used to annotate Foxc1
  • Curation Notes: DNA:mutation:cds:272T>C,p.I91T(human)


  • An association has been curated linking Foxc1 and Axenfeld-Rieger syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Honkanen RA, etal., Am J Ophthalmol. 2003 Mar;135(3):368-75.
  • The annotation has been inferred from sequence orthology with FOXC1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 additional annotations were made from Honkanen RA, etal., Am J Ophthalmol. 2003 Mar;135(3):368-75.
  • 36 RGD objects have been annotated to Axenfeld-Rieger syndrome  (DOID:14686)
  • 15 papers in RGD have been used to annotate Foxc1
  • Curation Notes: DNA:mutation:cds:p.F112S(human)


  • An association has been curated linking Foxc1 and Axenfeld-Rieger syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Weisschuh N, etal., Clin Genet. 2008 Nov;74(5):476-80. doi: 10.1111/j.1399-0004.2008.01025.x. Epub 2008 May 21.
  • The annotation has been inferred from sequence orthology with FOXC1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 8 additional annotations were made from Weisschuh N, etal., Clin Genet. 2008 Nov;74(5):476-80. doi: 10.1111/j.1399-0004.2008.01025.x. Epub 2008 May 21.
  • 36 RGD objects have been annotated to Axenfeld-Rieger syndrome  (DOID:14686)
  • 15 papers in RGD have been used to annotate Foxc1
  • Curation Notes: DNA:mutation:cds:p.Q120X(human)


  • An association has been curated linking Foxc1 and Axenfeld-Rieger syndrome 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 FOXC1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 36 RGD objects have been annotated to Axenfeld-Rieger syndrome  (DOID:14686)
  • 15 papers in RGD have been used to annotate Foxc1
  • Curation Notes: ClinVar Annotator: match by term: Axenfeld-rieger anomaly with or without cardiac defects and/or sensorineural hearing loss
  • Original References(s): PMID:11740218 PMID:14506133 PMID:24914578 PMID:25741868 PMID:28492532 PMID:28979898 PMID:30143558 PMID:32475988 PMID:35882526


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