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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking POMT2 and autosomal recessive limb-girdle muscular dystrophy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Biancheri R, etal., Biochem Biophys Res Commun. 2007 Nov 30;363(4):1033-7. Epub 2007 Sep 25.
  • 2 additional annotations were made from Biancheri R, etal., Biochem Biophys Res Commun. 2007 Nov 30;363(4):1033-7. Epub 2007 Sep 25.
  • 111 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy  (DOID:0110274)
  • 10 papers in RGD have been used to annotate POMT2
  • Curation Notes: DNA:missense mutation:exon:p.T184M, (c.551C>T) (human)


    • An association has been curated linking Pomt2 and autosomal recessive limb-girdle muscular dystrophy in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Biancheri R, etal., Biochem Biophys Res Commun. 2007 Nov 30;363(4):1033-7. Epub 2007 Sep 25.
  • The annotation has been inferred from sequence orthology with POMT2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Biancheri R, etal., Biochem Biophys Res Commun. 2007 Nov 30;363(4):1033-7. Epub 2007 Sep 25.
  • 111 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy  (DOID:0110274)
  • 11 papers in RGD have been used to annotate Pomt2
  • Curation Notes: DNA:missense mutation:exon:p.T184M, (c.551C>T) (human)


    • An association has been curated linking Pomt2 and autosomal recessive limb-girdle muscular dystrophy in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Biancheri R, etal., Biochem Biophys Res Commun. 2007 Nov 30;363(4):1033-7. Epub 2007 Sep 25.
  • The annotation has been inferred from sequence orthology with POMT2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Biancheri R, etal., Biochem Biophys Res Commun. 2007 Nov 30;363(4):1033-7. Epub 2007 Sep 25.
  • 111 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy  (DOID:0110274)
  • 12 papers in RGD have been used to annotate Pomt2
  • Curation Notes: DNA:missense mutation:exon:p.T184M, (c.551C>T) (human)


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