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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 Drug Metabolism, CYP2C19-Related
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Accession:DOID:9008308 term browser browse the term
Synonyms:narrow_synonym: CLOPIDOGREL, POOR METABOLISM OF;   CYP2C19: DECREASED FUNCTION;   CYP2C19: NO FUNCTION;   CYP2C19: UNCERTAIN FUNCTION;   MEPHENYTOIN, POOR METABOLISM OF;   OMEPRAZOLE, POOR METABOLISM OF;   poor metabolism of proguanil
 primary_id: MESH:C563703
 alt_id: OMIM:609535
For additional species annotation, visit the Alliance of Genome Resources.


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Poor Drug Metabolism, CYP2C19-Related 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CYP2C19: decreased function | ClinVar Annotator: match by term: CYP2C19: no function | ClinVar Annotator: match by term: CYP2C19: uncertain function | ClinVar Annotator: match by term: Clopidogrel, poor metabolism of | ClinVar Annotator: match by term: Mephenytoin, poor metabolism of		 OMIM
CTD
ClinVar		 PMID:7969038 PMID:8195181 PMID:9093256 PMID:9103550 PMID:9435198 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 Drug Metabolism, CYP2C19-Related 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 Drug Metabolism, CYP2C19-Related 1
paths to the root