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GENE - TERM ANNOTATION REPORT

5 Annotations Found.

An association has been curated linking RRM2B and mitochondrial DNA depletion syndrome 8b 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 mitochondrial DNA depletion syndrome 8b  (DOID:0070331)
  • 7 papers in RGD have been used to annotate RRM2B
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:19667227


    • An association has been curated linking RRM2B and mitochondrial DNA depletion syndrome 8b in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • 2 RGD objects have been annotated to mitochondrial DNA depletion syndrome 8b  (DOID:0070331)
  • 7 papers in RGD have been used to annotate RRM2B


    • An association has been curated linking RRM2B and mitochondrial DNA depletion syndrome 8b 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:8558661 (Homo sapiens)
  • 2 RGD objects have been annotated to mitochondrial DNA depletion syndrome 8b  (DOID:0070331)
  • 7 papers in RGD have been used to annotate RRM2B
  • Curation Notes: ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8B (MNGIE type)
  • Original References(s): PMID:19667227 PMID:24741716


    • An association has been curated linking RRM2B and mitochondrial DNA depletion syndrome 8b 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:8558660 (Homo sapiens)
  • 2 RGD objects have been annotated to mitochondrial DNA depletion syndrome 8b  (DOID:0070331)
  • 7 papers in RGD have been used to annotate RRM2B
  • Curation Notes: ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8B (MNGIE type)
  • Original References(s): PMID:19125351 PMID:19667227 PMID:24741716 PMID:25741868 PMID:28492532 PMID:32161153


    • An association has been curated linking RRM2B and mitochondrial DNA depletion syndrome 8b 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 mitochondrial DNA depletion syndrome 8b  (DOID:0070331)
  • 7 papers in RGD have been used to annotate RRM2B
  • Curation Notes: CTD Direct Evidence: marker/mechanism


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