Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Nrl and Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial 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 NRL (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 CRRD objects have been annotated to Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial  (DOID:9000520)
  • 7 papers in CRRD have been used to annotate Nrl
  • Curation Notes: ClinVar Annotator: match by term: Phosphoenolpyruvate carboxykinase deficiency, mitochondrial
  • Original References(s): PMID:25741868


  • An association has been curated linking Nrl and Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial 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 NRL (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 CRRD objects have been annotated to Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial  (DOID:9000520)
  • 7 papers in CRRD have been used to annotate Nrl
  • Curation Notes: ClinVar Annotator: match by term: Phosphoenolpyruvate carboxykinase deficiency, mitochondrial


  • An association has been curated linking Nrl and Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial 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 NRL (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 CRRD objects have been annotated to Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial  (DOID:9000520)
  • 7 papers in CRRD have been used to annotate Nrl
  • Curation Notes: ClinVar Annotator: match by term: Phosphoenolpyruvate carboxykinase deficiency, mitochondrial
  • Original References(s): PMID:24033266, PMID:25741868


  • Go Back to source page   Continue to Ontology report



    NHLBI Logo

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