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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:Thromboembolism
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Accession:DOID:9003121 term browser browse the term
Definition:Obstruction of a blood vessel (embolism) by a blood clot (THROMBUS) in the blood stream.
Synonyms:exact_synonym: Thromboembolisms
 primary_id: MESH:D013923;   RDO:0005163
For additional species annotation, visit the Alliance of Genome Resources.


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Thromboembolism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cpb2 carboxypeptidase B2 ISO RGD PMID:14739223 RGD:1598476 NCBI chrNW_004936857:577,067...609,855 JBrowse link
G F12 coagulation factor XII ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:16009717 RGD:11041771 NCBI chrNW_004936597:1,687,511...1,694,782 JBrowse link
G F2 coagulation factor II, thrombin ISO associated with coronary artery disease; DNA:polymorphism: :20210G>A(human)
associated with infective endocarditis;protein:increased expression:blood plasma (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:11471205 PMID:14693181 PMID:15049384 PMID:21955693 RGD:1580340 RGD:40819860 RGD:6893596 NCBI chrNW_004936562:2,371,725...2,388,617 JBrowse link
G F3 coagulation factor III, tissue factor ISO RGD PMID:24402608 RGD:11341738 NCBI chrNW_004936537:4,637,028...4,647,915 JBrowse link
G F5 coagulation factor V ISO ClinVar Annotator: match by term: Thromboembolism ClinVar PMID:25741868 PMID:31064749 PMID:34355501 NCBI chrNW_004936481:17,114,441...17,178,902 JBrowse link
G F7 coagulation factor VII ISO CTD Direct Evidence: marker/mechanism CTD PMID:20172985 NCBI chrNW_004936472:505,751...515,375 JBrowse link
G F8 coagulation factor VIII ISO RGD PMID:15634269 RGD:1582359 NCBI chrNW_004936927:189,359...301,791 JBrowse link
G Fgg fibrinogen gamma chain ISO ClinVar Annotator: match by term: Thromboembolism ClinVar PMID:25741868 PMID:31064749 NCBI chrNW_004936576:1,343,657...1,352,085 JBrowse link
G Gas6 growth arrest specific 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16564713 NCBI chrNW_004936472:27,116...57,158 JBrowse link
G Gp1bb glycoprotein Ib platelet subunit beta ISO RGD PMID:17095718 RGD:11040529 NCBI chrNW_004936619:3,627,649...3,629,129 JBrowse link
G Jak2 Janus kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19636672 NCBI chrNW_004936503:111,722...243,627 JBrowse link
G Mertk MER proto-oncogene, tyrosine kinase ISO CTD Direct Evidence: therapeutic CTD PMID:17047157 NCBI chrNW_004936783:607,425...704,879 JBrowse link
G Nos3 nitric oxide synthase 3 susceptibility ISO DNA:repeats:intron RGD PMID:10531147 RGD:5128481 NCBI chrNW_004936527:6,427,147...6,445,770 JBrowse link
G Plat plasminogen activator, tissue type ISO CTD Direct Evidence: therapeutic CTD PMID:8451030 NCBI chrNW_004936785:476,200...503,371 JBrowse link
G Plau plasminogen activator, urokinase ISO CTD Direct Evidence: therapeutic CTD PMID:3718210 NCBI chrNW_004936521:5,238,128...5,243,829 JBrowse link
G Proc protein C, inactivator of coagulation factors Va and VIIIa ISO ClinVar Annotator: match by term: Thromboembolism ClinVar PMID:1868249 PMID:8093743 PMID:25741868 PMID:28492532 PMID:31064749 More... NCBI chrNW_004936469:43,841,989...43,850,322 JBrowse link
G Pros1 protein S ISO ClinVar Annotator: match by term: Thromboembolism ClinVar PMID:25741868 PMID:31064749 NCBI chrNW_004936666:18,303...110,357 JBrowse link
G Serpinc1 serpin family C member 1 ISO ClinVar Annotator: match by term: Thromboembolism ClinVar PMID:1483705 PMID:1977621 PMID:3472589 PMID:25741868 PMID:28492532 More... NCBI chrNW_004936481:13,981,014...13,993,750 JBrowse link
G Thbd thrombomodulin treatment ISO RGD PMID:24098750 RGD:11038685 NCBI chrNW_004936620:2,563,900...2,568,117 JBrowse link
carotid artery thrombosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F3 coagulation factor III, tissue factor ISO associated with Diabetes Mellitus, Non-Insulin-Dependent RGD PMID:17969370 RGD:2313859 NCBI chrNW_004936537:4,637,028...4,647,915 JBrowse link
G Gp1bb glycoprotein Ib platelet subunit beta ISO RGD PMID:17095718 RGD:11040529 NCBI chrNW_004936619:3,627,649...3,629,129 JBrowse link
G Hmox1 heme oxygenase 1 treatment ISO associated with Anemia, Sickle Cell RGD PMID:23590132 RGD:10755698 NCBI chrNW_004936492:5,042,353...5,049,216 JBrowse link
G Itga2b integrin subunit alpha 2b ISO CTD Direct Evidence: marker/mechanism CTD PMID:1605806 NCBI chrNW_004936541:813,815...828,826 JBrowse link
G Itgb3 integrin subunit beta 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1605806 NCBI chrNW_004936541:2,822,789...2,871,069 JBrowse link
G Klkb1 kallikrein B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25339356 NCBI chrNW_004936554:3,227,395...3,256,710 JBrowse link
G Serpind1 serpin family D member 1 ISO CTD Direct Evidence: therapeutic CTD PMID:11805133 NCBI chrNW_004936619:2,298,745...2,310,740 JBrowse link
G Stxbp2 syntaxin binding protein 2 ISO CTD Direct Evidence: therapeutic CTD PMID:30696774 NCBI chrNW_004936588:4,688,221...4,696,075 JBrowse link
G Thbd thrombomodulin ISO RGD PMID:21885846 RGD:5684980 NCBI chrNW_004936620:2,563,900...2,568,117 JBrowse link
G Tlr2 toll like receptor 2 ISO RGD PMID:28572286 RGD:15090824 NCBI chrNW_004936576:522,234...531,660 JBrowse link
Extrahepatic Portal Vein Obstruction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F7 coagulation factor VII ISO mRNA:altered expression:liver (rat) RGD PMID:17660074 RGD:2312312 NCBI chrNW_004936472:505,751...515,375 JBrowse link
intracranial embolism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kl klotho susceptibility ISO DNA:polymorphism:promoter:-395G>A(human) RGD PMID:16973281 RGD:10403059 NCBI chrNW_004936472:27,604,681...27,649,613 JBrowse link
Intracranial Embolism and Thrombosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plat plasminogen activator, tissue type ISO CTD Direct Evidence: therapeutic CTD PMID:7482654 PMID:8427107 NCBI chrNW_004936785:476,200...503,371 JBrowse link
G Plau plasminogen activator, urokinase ISO CTD Direct Evidence: therapeutic CTD PMID:9403446 NCBI chrNW_004936521:5,238,128...5,243,829 JBrowse link
intracranial sinus thrombosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F2 coagulation factor II, thrombin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12269725 NCBI chrNW_004936562:2,371,725...2,388,617 JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18941937 NCBI chrNW_004936474:623,438...637,849 JBrowse link
intracranial thrombosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plat plasminogen activator, tissue type ISO CTD Direct Evidence: therapeutic CTD PMID:8678742 NCBI chrNW_004936785:476,200...503,371 JBrowse link
G Serpinc1 serpin family C member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:6636041 NCBI chrNW_004936481:13,981,014...13,993,750 JBrowse link
G Vwf von Willebrand factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:3111251 NCBI chrNW_004936709:1,578,137...1,741,877 JBrowse link
sagittal sinus thrombosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F5 coagulation factor V ISO CTD Direct Evidence: marker/mechanism CTD PMID:18382986 NCBI chrNW_004936481:17,114,441...17,178,902 JBrowse link
G Plau plasminogen activator, urokinase ISO CTD Direct Evidence: therapeutic CTD PMID:10668740 NCBI chrNW_004936521:5,238,128...5,243,829 JBrowse link
G Pros1 protein S ISO CTD Direct Evidence: marker/mechanism CTD PMID:18382986 NCBI chrNW_004936666:18,303...110,357 JBrowse link
Venous Thromboembolism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abo ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase susceptibility ISO DNA:polymorphism:: RGD PMID:15735796 RGD:11100013 NCBI chrNW_004936570:1,315,192...1,322,719 JBrowse link
G B3gat2 beta-1,3-glucuronyltransferase 2 ISO DNA:SNPs: :rs1304029,rs2748331(human) RGD PMID:28011674 RGD:14390077 NCBI chrNW_004936618:2,703,445...2,773,598 JBrowse link
G Cd46 CD46 molecule severity ISO protein:increased expression:plasma (human) RGD PMID:25684211 RGD:11352815 NCBI chrNW_004936557:5,136,784...5,175,543 JBrowse link
G F2 coagulation factor II, thrombin ISO ClinVar Annotator: match by term: Venous thromboembolism ClinVar PMID:2222810 PMID:2429850 PMID:6305407 PMID:8696333 PMID:8896550 More... NCBI chrNW_004936562:2,371,725...2,388,617 JBrowse link
G F5 coagulation factor V disease_progression ISO CTD Direct Evidence: marker/mechanism
DNA:mutation: :1691G>A (human)
DNA:SNP: :rs6025(human)
CTD
RGD
PMID:7500743 PMID:9149031 PMID:25665832 PMID:26245493 RGD:10449100 RGD:11536892 NCBI chrNW_004936481:17,114,441...17,178,902 JBrowse link
G Fga fibrinogen alpha chain ISO ClinVar Annotator: match by term: Venous thromboembolism, susceptibility to ClinVar PMID:10910940 PMID:16362348 PMID:25741868 NCBI chrNW_004936576:1,322,406...1,329,743 JBrowse link
G Habp2 hyaluronan binding protein 2 disease_progression ISO DNA:SNP: :p.G534E (rs7080536) (human)
ClinVar Annotator: match by term: Venous thromboembolism, susceptibility to
RGD
ClinVar
PMID:12138371 PMID:12578864 PMID:15486068 PMID:22421107 PMID:26222560 More... RGD:11353820 NCBI chrNW_004936486:3,987,746...4,004,632 JBrowse link
G Kng1 kininogen 1 ISO DNA:SNP: :rs710446 (human) RGD PMID:25472531 RGD:11059890 NCBI chrNW_004936578:3,255,335...3,281,296 JBrowse link
G LOC101968921 angiotensin-converting enzyme susceptibility ISO DNA:deletion:intron:IVS16+1464-1751del (human) RGD PMID:10937809 RGD:11038826 NCBI chrNW_004936541:4,157,847...4,178,156 JBrowse link
G LOC101970607 selectin P ISO associated with HIV Infections;protein:increased expression:plasma RGD PMID:21412059 RGD:6219001 NCBI chrNW_004936481:17,076,660...17,112,501 JBrowse link
G Mthfr methylenetetrahydrofolate reductase no_association ISO DNA:SNP: :677C>T, 1298A>C (human)
DNA:SNP: :677C>T (human)
RGD PMID:25207100 RGD:10449399 NCBI chrNW_004936474:623,438...637,849 JBrowse link
G Plat plasminogen activator, tissue type ISO CTD Direct Evidence: marker/mechanism CTD PMID:16167916 NCBI chrNW_004936785:476,200...503,371 JBrowse link
G Proc protein C, inactivator of coagulation factors Va and VIIIa ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD
RGD
PMID:9149031 PMID:11434940 PMID:21445774 PMID:24162787 RGD:11099984 RGD:11099988 NCBI chrNW_004936469:43,841,989...43,850,322 JBrowse link
G Pros1 protein S ISO RGD PMID:11434940 PMID:26466767 RGD:11099984 RGD:11251678 NCBI chrNW_004936666:18,303...110,357 JBrowse link
G Serpinc1 serpin family C member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:453287 NCBI chrNW_004936481:13,981,014...13,993,750 JBrowse link
G Serpind1 serpin family D member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1831893 NCBI chrNW_004936619:2,298,745...2,310,740 JBrowse link
G Serpine1 serpin family E member 1 susceptibility ISO DNA:deletion:promoter:g.-676_-674delG (human) RGD PMID:17549286 RGD:8547715 NCBI chrNW_004936543:1,032,543...1,040,956 JBrowse link
G Tfpi tissue factor pathway inhibitor ISO RGD PMID:14691572 RGD:11060266 NCBI chrNW_004936506:10,103,120...10,172,800 JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22473048 NCBI chrNW_004936727:1,936,066...1,937,766 JBrowse link
G Vwf von Willebrand factor ISO associated with Glomerulosclerosis, Focal Segmental RGD PMID:22295953 RGD:7207031 NCBI chrNW_004936709:1,578,137...1,741,877 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13624
    disease of anatomical entity 13360
      cardiovascular system disease 3494
        vascular disease 2513
          Embolism and Thrombosis 143
            Thromboembolism 40
              Embolism, Paradoxical 0
              Intracranial Embolism and Thrombosis + 19
              Venous Thromboembolism + 21
paths to the root