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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;   PROGUANIL, POOR METABOLISM OF
 primary_id: MESH:C563703;   RDO:0012894
 alt_id: OMIM:609535
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
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 ClinVar Annotator: match by term: Clopidogrel, poor metabolism of
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CYP2C19: uncertain function
ClinVar Annotator: match by term: CYP2C19: no function
ClinVar Annotator: match by term: Mephenytoin, poor metabolism of
OMIM
ClinVar
CTD
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 17251
    Nutritional and Metabolic Diseases 5548
      disease of metabolism 5548
        inherited metabolic disorder 2633
          Poor Drug Metabolism, CYP2C19-Related 1
Path 2
Term Annotations click to browse term
  disease 17251
    Developmental Disease 10960
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9494
        genetic disease 8999
          inherited metabolic disorder 2633
            Poor Drug Metabolism, CYP2C19-Related 1
paths to the root