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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking STRA6 and Anophthalmia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for human HPO-to-gene-to-disease annotations
  • 77 RGD objects have been annotated to Anophthalmia  (HP:0000528)
  • 15 papers in RGD have been used to annotate STRA6
  • Original References(s): MIM:601186 PMID:17273977 ORPHA:2470


    • An association has been curated linking STRA6 and Anophthalmia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Casey J, etal., Hum Mutat. 2011 Dec;32(12):1417-26. doi: 10.1002/humu.21590. Epub 2011 Sep 29.
  • 5 additional annotations were made from Casey J, etal., Hum Mutat. 2011 Dec;32(12):1417-26. doi: 10.1002/humu.21590. Epub 2011 Sep 29.
  • 77 RGD objects have been annotated to Anophthalmia  (HP:0000528)
  • 15 papers in RGD have been used to annotate STRA6
  • Curation Notes: DNA:missense mutation:CDS:p.G204K


    • An association has been curated linking STRA6 and Anophthalmia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Pasutto F, etal., Am J Hum Genet. 2007 Mar;80(3):550-60. doi: 10.1086/512203. Epub 2007 Jan 29.
  • 3 additional annotations were made from Pasutto F, etal., Am J Hum Genet. 2007 Mar;80(3):550-60. doi: 10.1086/512203. Epub 2007 Jan 29.
  • 77 RGD objects have been annotated to Anophthalmia  (HP:0000528)
  • 15 papers in RGD have been used to annotate STRA6
  • Curation Notes: DNA:frameshift mutation, missense mutations:CDS:multiple


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