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GENE - TERM ANNOTATION REPORT

6 Annotations Found.

An association has been curated linking Polg and chronic progressive external ophthalmoplegia in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Hudson G, etal., Arch Neurol. 2007 Apr;64(4):553-7.
  • The annotation has been inferred from sequence orthology with POLG (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Hudson G, etal., Arch Neurol. 2007 Apr;64(4):553-7.
  • 30 RGD objects have been annotated to chronic progressive external ophthalmoplegia  (DOID:12558)
  • 45 papers in RGD have been used to annotate Polg
  • Curation Notes: DNA:mutations:exons,intron:1532G>A,1389G>T, c.2070 + 158G>A(human)


    • An association has been curated linking Polg and chronic progressive external ophthalmoplegia in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Van Goethem G, etal., Neuromuscul Disord. 2003 Feb;13(2):133-42.
  • The annotation has been inferred from sequence orthology with POLG (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Van Goethem G, etal., Neuromuscul Disord. 2003 Feb;13(2):133-42.
  • 30 RGD objects have been annotated to chronic progressive external ophthalmoplegia  (DOID:12558)
  • 45 papers in RGD have been used to annotate Polg
  • Curation Notes: DNA:insertions,deletions,missense mutation:introns,exon:IVS9+78_79insG,(IVS17+38_39insGTAG,c.1879C>T(human)


    • An association has been curated linking Polg and chronic progressive external ophthalmoplegia in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Gonzalez-Vioque E, etal., Arch Neurol. 2006 Jan;63(1):107-11.
  • The annotation has been inferred from sequence orthology with POLG (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Gonzalez-Vioque E, etal., Arch Neurol. 2006 Jan;63(1):107-11.
  • 30 RGD objects have been annotated to chronic progressive external ophthalmoplegia  (DOID:12558)
  • 45 papers in RGD have been used to annotate Polg
  • Curation Notes: DNA:mutations:cds:


    • An association has been curated linking Polg and chronic progressive external ophthalmoplegia in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Filosto M, etal., Arch Neurol. 2003 Sep;60(9):1279-84.
  • The annotation has been inferred from sequence orthology with POLG (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Filosto M, etal., Arch Neurol. 2003 Sep;60(9):1279-84.
  • 30 RGD objects have been annotated to chronic progressive external ophthalmoplegia  (DOID:12558)
  • 45 papers in RGD have been used to annotate Polg
  • Curation Notes: DNA:mutations:cds:


    • An association has been curated linking Polg and chronic progressive external ophthalmoplegia in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Van Goethem G, etal., Nat Genet 2001 Jul;28(3):211-2.
  • The annotation has been inferred from sequence orthology with POLG (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Van Goethem G, etal., Nat Genet 2001 Jul;28(3):211-2.
  • 30 RGD objects have been annotated to chronic progressive external ophthalmoplegia  (DOID:12558)
  • 45 papers in RGD have been used to annotate Polg
  • Curation Notes: DNA:mutations:exons: c.2864A>G, c.1399G>A, c.911T>G,c.8G>C (human)


    • An association has been curated linking Polg and chronic progressive external ophthalmoplegia in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with POLG (Homo sapiens) [(EXP) inferred from experiment]
  • 30 RGD objects have been annotated to chronic progressive external ophthalmoplegia  (DOID:12558)
  • 45 papers in RGD have been used to annotate Polg
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:17923349


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