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GENE - TERM ANNOTATION REPORT

7 Annotations Found.

An association has been curated linking SALL4 and Duane retraction syndrome 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
  • 17 RGD objects have been annotated to Duane retraction syndrome  (DOID:12557)
  • 19 papers in RGD have been used to annotate SALL4
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:16402211 PMID:30067223


    • An association has been curated linking SALL4 and Duane retraction syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Kohlhase J, etal., Hum Mol Genet. 2002 Nov 1;11(23):2979-87.
  • 2 additional annotations were made from Kohlhase J, etal., Hum Mol Genet. 2002 Nov 1;11(23):2979-87.
  • 17 RGD objects have been annotated to Duane retraction syndrome  (DOID:12557)
  • 19 papers in RGD have been used to annotate SALL4
  • Curation Notes: DNA:snps, deletions, insertion:multiple (human)


    • An association has been curated linking SALL4 and Duane retraction syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Terhal P, etal., Am J Med Genet A. 2006 Feb 1;140(3):222-6.
  • 2 additional annotations were made from Terhal P, etal., Am J Med Genet A. 2006 Feb 1;140(3):222-6.
  • 17 RGD objects have been annotated to Duane retraction syndrome  (DOID:12557)
  • 19 papers in RGD have been used to annotate SALL4
  • Curation Notes: DNA:nonsense mutation:cds:p.R905X (human)


    • An association has been curated linking SALL4 and Duane retraction syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Al-Baradie R, etal., Am J Hum Genet. 2002 Nov;71(5):1195-9. Epub 2002 Oct 22.
  • 2 additional annotations were made from Al-Baradie R, etal., Am J Hum Genet. 2002 Nov;71(5):1195-9. Epub 2002 Oct 22.
  • 17 RGD objects have been annotated to Duane retraction syndrome  (DOID:12557)
  • 19 papers in RGD have been used to annotate SALL4
  • Curation Notes: DNA:deletions, nonsense mutation:cds:c.1904delT, c.2425delG, p.R865X (human)


    • An association has been curated linking SALL4 and Duane retraction syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Alves LU, etal., Eur J Med Genet. 2016 Feb;59(2):80-5. doi: 10.1016/j.ejmg.2015.12.015. Epub 2016 Jan 11.
  • 2 additional annotations were made from Alves LU, etal., Eur J Med Genet. 2016 Feb;59(2):80-5. doi: 10.1016/j.ejmg.2015.12.015. Epub 2016 Jan 11.
  • 17 RGD objects have been annotated to Duane retraction syndrome  (DOID:12557)
  • 19 papers in RGD have been used to annotate SALL4
  • Curation Notes: DNA:duplication:cds:c.410dupG (human)


    • An association has been curated linking SALL4 and Duane retraction syndrome in Homo sapiens.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Warren M, etal., Genesis. 2007 Jan;45(1):51-8.
  • The annotation has been inferred from sequence orthology with Sall4 (Mus musculus) [(IMP) inferred from mutant phenotype]
  • 2 additional annotations were made from Warren M, etal., Genesis. 2007 Jan;45(1):51-8.
  • 17 RGD objects have been annotated to Duane retraction syndrome  (DOID:12557)
  • 19 papers in RGD have been used to annotate SALL4


    • An association has been curated linking SALL4 and Duane retraction syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Yang MM, etal., Mol Vis. 2013 May 6;19:986-94. Print 2013.
  • 3 additional annotations were made from Yang MM, etal., Mol Vis. 2013 May 6;19:986-94. Print 2013.
  • 17 RGD objects have been annotated to Duane retraction syndrome  (DOID:12557)
  • 19 papers in RGD have been used to annotate SALL4
  • Curation Notes: DNA:frameshift mutation:cds:p.M640IfsX25 (human)


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