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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:warfarin resistance
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Accession:DOID:0080665 term browser browse the term
Definition:An inherited metabolic disorder that is characterized by a high tolerance for the drug warfarin. (DO)
Synonyms:exact_synonym: Coumarin Resistance;   poor metabolism of coumarin
 primary_id: MESH:C563039
 alt_id: OMIM:122700
 xref: GARD:12721
For additional species annotation, visit the Alliance of Genome Resources.



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warfarin resistance term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apob apolipoprotein B ISO ClinVar Annotator: match by term: Coumarin resistance ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
JBrowse link
G Apoe apolipoprotein E ISO ClinVar Annotator: match by term: Coumarin resistance ClinVar PMID:2987927 PMID:2992507 PMID:3243553 PMID:3922972 PMID:6300187 More... NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
JBrowse link
G Cyp2a3 cytochrome P450, family 2, subfamily a, polypeptide 3 ISO ClinVar Annotator: match by term: Coumarin resistance ClinVar PMID:12325023 NCBI chr 1:82,171,914...82,179,980
Ensembl chr 1:82,169,949...82,179,979
JBrowse link
G Vkorc1 vitamin K epoxide reductase complex, subunit 1 ISO ClinVar Annotator: match by OMIM:122700
ClinVar Annotator: match by term: Coumarin resistance
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:14765194 PMID:15358623 PMID:15883587 PMID:15888487 PMID:16201835 More... NCBI chr 1:182,502,491...182,505,012
Ensembl chr 1:182,500,844...182,505,008
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
          warfarin resistance 4
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
            warfarin resistance 4
paths to the root