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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking MT-ATP6 and Maternally Inherited Leigh Syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from Childs AM, etal., Neuropediatrics. 2007 Dec;38(6):313-6.
  • 2 additional annotations were made from Childs AM, etal., Neuropediatrics. 2007 Dec;38(6):313-6.
  • 2 RGD objects have been annotated to Maternally Inherited Leigh Syndrome  (DOID:9000973)
  • 16 papers in RGD have been used to annotate MT-ATP6
  • Curation Notes: DNA:point mutation: :m.9185T>C (human)

  • This annotation was curated on 2015-05-23 09:00:03.0 by RGD . For more information contact us

    An association has been curated linking MT-ATP6 and Maternally Inherited Leigh Syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from Desguerre I, etal., Neuropediatrics. 2003 Jun;34(5):265-9.
  • 5 additional annotations were made from Desguerre I, etal., Neuropediatrics. 2003 Jun;34(5):265-9.
  • 2 RGD objects have been annotated to Maternally Inherited Leigh Syndrome  (DOID:9000973)
  • 16 papers in RGD have been used to annotate MT-ATP6
  • Curation Notes: DNA:transversion: :m.8993T>G (human)

  • This annotation was curated on 2015-05-23 09:00:03.0 by RGD . For more information contact us

    An association has been curated linking MT-ATP6 and Maternally Inherited Leigh Syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from Jacobs LJ, etal., Mol Hum Reprod. 2005 Mar;11(3):223-8. Epub 2005 Feb 11.
  • 4 additional annotations were made from Jacobs LJ, etal., Mol Hum Reprod. 2005 Mar;11(3):223-8. Epub 2005 Feb 11.
  • 2 RGD objects have been annotated to Maternally Inherited Leigh Syndrome  (DOID:9000973)
  • 16 papers in RGD have been used to annotate MT-ATP6
  • Curation Notes: DNA:point mutation: :m.9176T>C (human)

  • This annotation was curated on 2015-05-23 09:00:03.0 by RGD . For more information contact us

    An association has been curated linking MT-ATP6 and Maternally Inherited Leigh Syndrome in Homo sapiens.        

  • The association was inferred from experiment (EXP)
  •  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • 2 RGD objects have been annotated to Maternally Inherited Leigh Syndrome  (DOID:9000973)
  • 16 papers in RGD have been used to annotate MT-ATP6
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:27129022

  • This annotation was curated on 2020-01-21 04:45:21.0 by RGD . For more information contact us

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