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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
For additional species annotation, visit the Alliance of Genome Resources.


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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:25741868 PMID:26467025 PMID:28492532 NCBI chr 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997
JBrowse link
G Apoe apolipoprotein E ISO ClinVar Annotator: match by term: Warfarin sensitivity ClinVar PMID:2987927 PMID:2992507 PMID:3243553 PMID:3922972 PMID:6300187 PMID:7263700 PMID:8346443 PMID:8618665 PMID:8644717 PMID:9343467 PMID:9649566 PMID:9932938 PMID:10213549 PMID:10799751 PMID:11835377 PMID:11940689 PMID:11940706 PMID:14741101 PMID:15048896 PMID:15184602 PMID:15326261 PMID:15557508 PMID:15668424 PMID:16103896 PMID:16143024 PMID:17289397 PMID:19605830 PMID:19667110 PMID:20031551 PMID:20031582 PMID:22381401 PMID:22992668 PMID:23060451 PMID:23296339 PMID:23571587 PMID:24033266 PMID:25741868 PMID:27260402 PMID:32376954 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
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 1:83,653,248...83,662,118
Ensembl chr 1:83,653,234...83,766,484
JBrowse link
G Cyp2c11 cytochrome P450, subfamily 2, polypeptide 11 ISO ClinVar Annotator: match by term: Warfarin sensitivity
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:8004131 PMID:8873220 PMID:9352571 PMID:10073515 PMID:10208645 PMID:10509530 PMID:10961881 PMID:11127854 PMID:11337938 PMID:11588061 PMID:11692083 PMID:11926893 PMID:11966680 PMID:12414349 PMID:12496751 PMID:12698304 PMID:12876643 PMID:12893985 PMID:14676821 PMID:14707031 PMID:15001971 PMID:15116053 PMID:15213846 PMID:15590403 PMID:15608560 PMID:15714076 PMID:15805193 PMID:15841315 PMID:15883587 PMID:15947090 PMID:16153401 PMID:16160068 PMID:16198655 PMID:16432637 PMID:16493479 PMID:16611750 PMID:16699986 PMID:17111199 PMID:17112811 PMID:17226852 PMID:17324110 PMID:17387222 PMID:17510308 PMID:17653141 PMID:17681167 PMID:17851566 PMID:17955230 PMID:17989110 PMID:18030307 PMID:18305455 PMID:18322281 PMID:18466099 PMID:18535201 PMID:18542936 PMID:18570163 PMID:18574025 PMID:18690342 PMID:18756910 PMID:18836275 PMID:18950464 PMID:19031075 PMID:19074728 PMID:19177029 PMID:19228618 PMID:19297219 PMID:19300499 PMID:19387626 PMID:19422321 PMID:19745563 PMID:19794411 PMID:19802360 PMID:19874474 PMID:20072124 PMID:20354686 PMID:20375999 PMID:20421126 PMID:20555338 PMID:20833980 PMID:21110192 PMID:21148049 PMID:21174619 PMID:21185752 PMID:21228733 PMID:21383771 PMID:21692828 PMID:22130800 PMID:22248286 PMID:22349464 PMID:22571356 PMID:22594507 PMID:22676192 PMID:22990331 PMID:22992668 PMID:23113310 PMID:23279643 PMID:23348161 PMID:23602689 PMID:23774101 PMID:23932037 PMID:23941071 PMID:23990957 PMID:23996211 PMID:24474498 PMID:24503627 PMID:24602049 PMID:24728385 PMID:25001883 PMID:25026456 PMID:25099164 PMID:25126975 PMID:25244877 PMID:25521356 PMID:25594941 PMID:25712887 PMID:25769357 PMID:25775139 PMID:25858232 PMID:26010205 PMID:26223945 PMID:26257249 PMID:26777610 PMID:27488176 PMID:27581200 PMID:27617219 PMID:28033245 PMID:28049362 PMID:28429387 PMID:28550460 PMID:28689179 PMID:28740425 PMID:29054760 PMID:29432897 PMID:29568565 PMID:29577257 PMID:30742399 PMID:30742400 PMID:30742401 PMID:32779747 NCBI chr 1:257,676,172...258,004,428
Ensembl chr 1:257,970,345...258,004,434
JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27581200 NCBI chr19:38,422,210...38,437,103
Ensembl chr19:38,422,164...38,437,180
JBrowse link
G Vkorc1 vitamin K epoxide reductase complex, subunit 1 ISO
IAGP
ClinVar Annotator: match by term: Warfarin sensitivity
DNA:missense mutation: :p.Y139C (416A>G) (rat)
ClinVar PMID:14765194 PMID:15358623 PMID:15883587 PMID:15888487 PMID:16201835 PMID:16270629 PMID:16432637 PMID:16611750 PMID:16676068 PMID:16815313 PMID:16821005 PMID:17031720 PMID:17110455 PMID:17111199 PMID:17329985 PMID:17387222 PMID:17391071 PMID:17596133 PMID:17989110 PMID:18030307 PMID:18240904 PMID:18252229 PMID:18322281 PMID:18466099 PMID:18781852 PMID:18855533 PMID:19074728 PMID:19077919 PMID:19177029 PMID:19225451 PMID:19270263 PMID:19297219 PMID:20020283 PMID:20128861 PMID:20203262 PMID:20555338 PMID:20585834 PMID:21127708 PMID:21176721 PMID:21273734 PMID:21326313 PMID:21981797 PMID:22075505 PMID:22248286 PMID:22534826 PMID:22549502 PMID:22871975 PMID:22920394 PMID:22992668 PMID:23159229 PMID:23183958 PMID:23571513 PMID:23990957 PMID:24019055 PMID:24728385 PMID:25026456 PMID:25741868 PMID:25989350 PMID:26223945 PMID:26257249 PMID:26433837 PMID:26996562 PMID:27121899 PMID:27617219 PMID:27938396 PMID:28262345 PMID:29054760, PMID:14765194 RGD:1303972 NCBI chr 1:199,338,785...199,341,306
Ensembl chr 1:199,337,138...199,341,302
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: WARFARIN SENSITIVITY, X-LINKED ClinVar
OMIM
PMID:8833911 NCBI chr  X:143,097,507...143,141,791
Ensembl chr  X:143,097,525...143,141,794
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17014
    Nutritional and Metabolic Diseases 5273
      disease of metabolism 5273
        inherited metabolic disorder 2490
          warfarin sensitivity 7
            X-linked warfarin sensitivity 1
Path 2
Term Annotations click to browse term
  disease 17014
    Developmental Disease 10686
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9164
        genetic disease 8677
          monogenic disease 6660
            autosomal genetic disease 5814
              autosomal dominant disease 4101
                warfarin sensitivity 7
                  X-linked warfarin sensitivity 1
paths to the root