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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking FKRP and autosomal recessive limb-girdle muscular dystrophy type 2I in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Hong D, etal., J Clin Neurosci. 2011 Apr;18(4):494-9. doi: 10.1016/j.jocn.2010.08.010. Epub 2011 Feb 5.
  • 2 additional annotations were made from Hong D, etal., J Clin Neurosci. 2011 Apr;18(4):494-9. doi: 10.1016/j.jocn.2010.08.010. Epub 2011 Feb 5.
  • 3 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: DNA:missense mutations:exon:p.F70I (c.208T>A), p.G344C (c.1030G>T) (human)


    • An association has been curated linking Fkrp and autosomal recessive limb-girdle muscular dystrophy type 2I in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Hong D, etal., J Clin Neurosci. 2011 Apr;18(4):494-9. doi: 10.1016/j.jocn.2010.08.010. Epub 2011 Feb 5.
  • The annotation has been inferred from sequence orthology with FKRP (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Hong D, etal., J Clin Neurosci. 2011 Apr;18(4):494-9. doi: 10.1016/j.jocn.2010.08.010. Epub 2011 Feb 5.
  • 3 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 23 papers in RGD have been used to annotate Fkrp
  • Curation Notes: DNA:missense mutations:exon:p.F70I (c.208T>A), p.G344C (c.1030G>T) (human)


    • An association has been curated linking Fkrp and autosomal recessive limb-girdle muscular dystrophy type 2I in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Hong D, etal., J Clin Neurosci. 2011 Apr;18(4):494-9. doi: 10.1016/j.jocn.2010.08.010. Epub 2011 Feb 5.
  • The annotation has been inferred from sequence orthology with FKRP (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Hong D, etal., J Clin Neurosci. 2011 Apr;18(4):494-9. doi: 10.1016/j.jocn.2010.08.010. Epub 2011 Feb 5.
  • 3 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2I  (DOID:0110299)
  • 22 papers in RGD have been used to annotate Fkrp
  • Curation Notes: DNA:missense mutations:exon:p.F70I (c.208T>A), p.G344C (c.1030G>T) (human)


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