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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking POMT1 and Walker-Warburg syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Currier SC, etal., Am J Med Genet A. 2005 Feb 15;133A(1):53-7.
  • 2 additional annotations were made from Currier SC, etal., Am J Med Genet A. 2005 Feb 15;133A(1):53-7.
  • 98 RGD objects have been annotated to Walker-Warburg syndrome  (DOID:0050560)
  • 12 papers in RGD have been used to annotate POMT1
  • Curation Notes: DNA:missense mutation, nonsense mutation:exon:p.S537R (g.1790C>G), p.Y352X (g.1233T>A) (human)


    • An association has been curated linking Pomt1 and Walker-Warburg syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Currier SC, etal., Am J Med Genet A. 2005 Feb 15;133A(1):53-7.
  • The annotation has been inferred from sequence orthology with POMT1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Currier SC, etal., Am J Med Genet A. 2005 Feb 15;133A(1):53-7.
  • 98 RGD objects have been annotated to Walker-Warburg syndrome  (DOID:0050560)
  • 20 papers in RGD have been used to annotate Pomt1
  • Curation Notes: DNA:missense mutation, nonsense mutation:exon:p.S537R (g.1790C>G), p.Y352X (g.1233T>A) (human)


    • An association has been curated linking Pomt1 and Walker-Warburg syndrome in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Currier SC, etal., Am J Med Genet A. 2005 Feb 15;133A(1):53-7.
  • The annotation has been inferred from sequence orthology with POMT1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Currier SC, etal., Am J Med Genet A. 2005 Feb 15;133A(1):53-7.
  • 98 RGD objects have been annotated to Walker-Warburg syndrome  (DOID:0050560)
  • 14 papers in RGD have been used to annotate Pomt1
  • Curation Notes: DNA:missense mutation, nonsense mutation:exon:p.S537R (g.1790C>G), p.Y352X (g.1233T>A) (human)


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