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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking Khk and essential fructosuria in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with KHK (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to essential fructosuria  (DOID:0111680)
  • 22 papers in RGD have been used to annotate Khk


    • An association has been curated linking Khk and essential fructosuria 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 KHK (Homo sapiens) [(EXP) inferred from experiment]
  • 2 RGD objects have been annotated to essential fructosuria  (DOID:0111680)
  • 22 papers in RGD have been used to annotate Khk
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:7833921 PMID:18035330


    • An association has been curated linking Khk and essential fructosuria in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Miller CO, etal., Am J Physiol Endocrinol Metab. 2018 Sep 1;315(3):E386-E393. doi: 10.1152/ajpendo.00027.2018. Epub 2018 Jun 5.
  • The annotation has been inferred from sequence orthology with Khk (Mus musculus) [(IMP) inferred from mutant phenotype]
  • 2 additional annotations were made from Miller CO, etal., Am J Physiol Endocrinol Metab. 2018 Sep 1;315(3):E386-E393. doi: 10.1152/ajpendo.00027.2018. Epub 2018 Jun 5.
  • 2 RGD objects have been annotated to essential fructosuria  (DOID:0111680)
  • 22 papers in RGD have been used to annotate Khk


    • An association has been curated linking Khk and essential fructosuria 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 KHK (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to essential fructosuria  (DOID:0111680)
  • 22 papers in RGD have been used to annotate Khk
  • Curation Notes: ClinVar Annotator: match by term: Essential fructosuria | ClinVar Annotator: match by term: KETOHEXOKINASE DEFICIENCY
  • Original References(s): PMID:19237742 PMID:25741868 PMID:28492532 PMID:7833921 PMID:9799106


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