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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking RRM2B and mitochondrial metabolism disease 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:8568343 (Homo sapiens)
  • 1230 RGD objects have been annotated to mitochondrial metabolism disease  (DOID:700)
  • 7 papers in RGD have been used to annotate RRM2B
  • Curation Notes: ClinVar Annotator: match by term: Mitochondrial diseases
  • Original References(s): PMID:21646632 PMID:24741716 PMID:28812649


  • An association has been curated linking RRM2B and mitochondrial metabolism disease 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:8661177 (Homo sapiens)
  • 1230 RGD objects have been annotated to mitochondrial metabolism disease  (DOID:700)
  • 7 papers in RGD have been used to annotate RRM2B
  • Curation Notes: ClinVar Annotator: match by term: Mitochondrial diseases
  • Original References(s): PMID:17576681 PMID:23107649 PMID:24741716 PMID:25741868 PMID:28492532 PMID:28812649 PMID:32313153 PMID:9536098


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