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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking MT-ND5 and Mitochondrial Myopathy, Infantile, Transient in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:15016567 (Homo sapiens)
  • 9 RGD objects have been annotated to Mitochondrial Myopathy, Infantile, Transient  (DOID:9007527)
  • 15 papers in RGD have been used to annotate MT-ND5
  • Curation Notes: ClinVar Annotator: match by term: Mitochondrial myopathy, infantile, transient


    • An association has been curated linking MT-ND5 and Mitochondrial Myopathy, Infantile, Transient in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:15016515 (Homo sapiens)
  • 9 RGD objects have been annotated to Mitochondrial Myopathy, Infantile, Transient  (DOID:9007527)
  • 15 papers in RGD have been used to annotate MT-ND5
  • Curation Notes: ClinVar Annotator: match by term: Mitochondrial myopathy, infantile, transient
  • Original References(s): PMID:20018511 PMID:25741868


    • An association has been curated linking MT-ND5 and Mitochondrial Myopathy, Infantile, Transient in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:15016515 (Homo sapiens)
  • 9 RGD objects have been annotated to Mitochondrial Myopathy, Infantile, Transient  (DOID:9007527)
  • 15 papers in RGD have been used to annotate MT-ND5
  • Curation Notes: ClinVar Annotator: match by term: Mitochondrial myopathy, infantile, transient
  • Original References(s): PMID:20018511 PMID:25741868 PMID:32906214


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