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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 sensitivity
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Accession:DOID:0080666 term browser browse the term
Definition:An inherited metabolic disorder that is characterized by a low tolerance for the drug warfarin. (DO)
Synonyms:exact_synonym: coumarin sensitivity
 primary_id: MESH:C567080



show annotations for term's descendants           Sort by:
warfarin sensitivity 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: Warfarin sensitivity ClinVar PMID:23593297 PMID:25741868 PMID:26467025 PMID:26612772 PMID:26690388 More... 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: Warfarin sensitivity ClinVar PMID:2987927 PMID:2992507 PMID:3243553 PMID:3353383 PMID:3922972 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: Warfarin sensitivity ClinVar PMID:12325023 NCBI chr 1:82,171,914...82,179,980
Ensembl chr 1:82,169,949...82,179,979
JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27581200 NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557
JBrowse link
G Vkorc1 vitamin K epoxide reductase complex, subunit 1 IAGP
ISO
DNA:missense mutation: :p.Y139C (416A>G) (rat)
ClinVar Annotator: match by term: Warfarin sensitivity
ClinVar
RGD
PMID:14765194 PMID:15358623 PMID:15883587 PMID:15888487 PMID:15930419 More... RGD:1303972 NCBI chr 1:182,502,491...182,505,012
Ensembl chr 1:182,500,844...182,505,008
JBrowse link
X-linked warfarin sensitivity term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F9 coagulation factor IX ISO ClinVar Annotator: match by term: COUMARIN SENSITIVITY, X-LINKED | ClinVar Annotator: match by term: Warfarin sensitivity, X-linked OMIM
ClinVar
PMID:2066105 PMID:2370049 PMID:2472424 PMID:2762170 PMID:2773937 More... NCBI chr  X:138,352,334...138,396,835
Ensembl chr  X:138,352,298...138,396,835
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19055
    Nutritional and Metabolic Diseases 8518
      disease of metabolism 8518
        inherited metabolic disorder 6602
          warfarin sensitivity 6
            X-linked warfarin sensitivity 1
Path 2
Term Annotations click to browse term
  disease 19055
    Developmental Disease 14526
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13539
        genetic disease 13201
          monogenic disease 10700
            autosomal genetic disease 9872
              autosomal dominant disease 6531
                warfarin sensitivity 6
                  X-linked warfarin sensitivity 1
paths to the root