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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Poor Metabolism of Proguanil
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Accession:DOID:9002638 term browser browse the term
Synonyms:primary_id: MESH:C563704
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
Poor Metabolism of Proguanil term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp2c6v1 cytochrome P450, family 2, subfamily C, polypeptide 6, variant 1 ISO ClinVar Annotator: match by term: Proguanil, poor metabolism of ClinVar PMID:7969038 PMID:8195181 PMID:9093256 PMID:18004210 PMID:19444287 More... NCBI chr 1:237,938,521...237,976,238
Ensembl chr 1:237,693,094...238,057,596 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20988
    Nutritional and Metabolic Diseases 8324
      disease of metabolism 8324
        inherited metabolic disorder 6274
          Poor Metabolism of Proguanil 1
Path 2
Term Annotations click to browse term
  disease 20988
    Developmental Disease 18234
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18064
        genetic disease 17984
          inherited metabolic disorder 6274
            Poor Metabolism of Proguanil 1
paths to the root