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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking Mt-nd4l and Leber hereditary optic neuropathy in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Brown MD, etal., Hum Genet. 2002 Feb;110(2):130-8. Epub 2002 Jan 24.
  • The annotation has been inferred from sequence orthology with MT-ND4L (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 additional annotations were made from Brown MD, etal., Hum Genet. 2002 Feb;110(2):130-8. Epub 2002 Jan 24.
  • 29 RGD objects have been annotated to Leber hereditary optic neuropathy  (DOID:705)
  • 11 papers in RGD have been used to annotate Mt-nd4l
  • Curation Notes: DNA:missense mutation:cds:m.10663T>C (p.V65A) (human)


    • An association has been curated linking Mt-nd4l and Leber hereditary optic neuropathy in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Yang J, etal., Mitochondrion. 2009 Jul;9(4):273-8. Epub 2009 Apr 24.
  • The annotation has been inferred from sequence orthology with MT-ND4L (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 additional annotations were made from Yang J, etal., Mitochondrion. 2009 Jul;9(4):273-8. Epub 2009 Apr 24.
  • 29 RGD objects have been annotated to Leber hereditary optic neuropathy  (DOID:705)
  • 11 papers in RGD have been used to annotate Mt-nd4l
  • Curation Notes: DNA:missense mutation:cds:m.10680G>A (p.A71T) (human)


    • An association has been curated linking Mt-nd4l and Leber hereditary optic neuropathy 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 MT-ND4L (Homo sapiens) [(EXP) inferred from experiment]
  • 29 RGD objects have been annotated to Leber hereditary optic neuropathy  (DOID:705)
  • 11 papers in RGD have been used to annotate Mt-nd4l
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking Mt-nd4l and Leber hereditary optic neuropathy in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with MT-ND4L (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 29 RGD objects have been annotated to Leber hereditary optic neuropathy  (DOID:705)
  • 11 papers in RGD have been used to annotate Mt-nd4l
  • Curation Notes: ClinVar Annotator: match by term: Leber optic atrophy | ClinVar Annotator: match by term: Leber's optic atrophy
  • Original References(s): PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:11935318 PMID:1436530 PMID:14998933 PMID:1539598 PMID:1550128 PMID:17452590 PMID:19667215 PMID:19875463 PMID:20301353 PMID:2137962 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:30143805 PMID:32313153 PMID:32906214 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:8680405 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875


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