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GENE - TERM ANNOTATION REPORT

6 Annotations Found.

An association has been curated linking MT-CO3 and MELAS syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from Choi BO, etal., Exp Mol Med. 2008 Jun 30;40(3):354-60.
  • 5 additional annotations were made from Choi BO, etal., Exp Mol Med. 2008 Jun 30;40(3):354-60.
  • 39 CRRD objects have been annotated to MELAS syndrome  (DOID:3687)
  • 4 papers in CRRD have been used to annotate MT-CO3
  • Curation Notes: DNA:mutation:exon:m.9957T>C (F251L)(human)


  • An association has been curated linking MT-ND5 and MELAS syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from Choi BO, etal., Exp Mol Med. 2008 Jun 30;40(3):354-60.
  • 5 additional annotations were made from Choi BO, etal., Exp Mol Med. 2008 Jun 30;40(3):354-60.
  • 39 CRRD objects have been annotated to MELAS syndrome  (DOID:3687)
  • 15 papers in CRRD have been used to annotate MT-ND5
  • Curation Notes: DNA:mutation:exon:m.13849A>C (N505H)(human)


  • An association has been curated linking Mt-co3 and MELAS syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Choi BO, etal., Exp Mol Med. 2008 Jun 30;40(3):354-60.
  • The annotation has been inferred from sequence orthology with MT-CO3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 additional annotations were made from Choi BO, etal., Exp Mol Med. 2008 Jun 30;40(3):354-60.
  • 39 CRRD objects have been annotated to MELAS syndrome  (DOID:3687)
  • 12 papers in CRRD have been used to annotate Mt-co3
  • Curation Notes: DNA:mutation:exon:m.9957T>C (F251L)(human)


  • An association has been curated linking Mt-nd5 and MELAS syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Choi BO, etal., Exp Mol Med. 2008 Jun 30;40(3):354-60.
  • The annotation has been inferred from sequence orthology with MT-ND5 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 additional annotations were made from Choi BO, etal., Exp Mol Med. 2008 Jun 30;40(3):354-60.
  • 39 CRRD objects have been annotated to MELAS syndrome  (DOID:3687)
  • 23 papers in CRRD have been used to annotate Mt-nd5
  • Curation Notes: DNA:mutation:exon:m.13849A>C (N505H)(human)


  • An association has been curated linking mt-Co3 and MELAS syndrome in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Choi BO, etal., Exp Mol Med. 2008 Jun 30;40(3):354-60.
  • The annotation has been inferred from sequence orthology with MT-CO3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 additional annotations were made from Choi BO, etal., Exp Mol Med. 2008 Jun 30;40(3):354-60.
  • 39 CRRD objects have been annotated to MELAS syndrome  (DOID:3687)
  • 6 papers in CRRD have been used to annotate mt-Co3
  • Curation Notes: DNA:mutation:exon:m.9957T>C (F251L)(human)


  • An association has been curated linking mt-Nd5 and MELAS syndrome in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Choi BO, etal., Exp Mol Med. 2008 Jun 30;40(3):354-60.
  • The annotation has been inferred from sequence orthology with MT-ND5 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 additional annotations were made from Choi BO, etal., Exp Mol Med. 2008 Jun 30;40(3):354-60.
  • 39 CRRD objects have been annotated to MELAS syndrome  (DOID:3687)
  • 17 papers in CRRD have been used to annotate mt-Nd5
  • Curation Notes: DNA:mutation:exon:m.13849A>C (N505H)(human)


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    RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.