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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 chr11:21,234,447...21,298,250
Ensembl chr11:21,234,447...21,298,244
JBrowse link
G F12 coagulation factor XII ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:16009717 RGD:11041771 NCBI chr 2:80,527,451...80,544,835
Ensembl chr 2:80,526,767...80,546,096
JBrowse link
G F2 coagulation factor II, thrombin ISO CTD Direct Evidence: marker/mechanism
associated with infective endocarditis;protein:increased expression:blood plasma (human)
associated with coronary artery disease; DNA:polymorphism: :20210G>A(human)
CTD
RGD
PMID:11471205 PMID:14693181 PMID:15049384 PMID:21955693 RGD:1580340 RGD:40819860 RGD:6893596 NCBI chr 2:15,793,257...15,819,151
Ensembl chr 2:15,791,451...15,819,138
JBrowse link
G F3 coagulation factor III, tissue factor ISO RGD PMID:24402608 RGD:11341738 NCBI chr 4:122,827,018...122,837,673
Ensembl chr 4:122,826,992...122,837,672
JBrowse link
G F5 coagulation factor V ISO ClinVar Annotator: match by term: Thromboembolism ClinVar PMID:25741868 PMID:31064749 PMID:34355501 NCBI chr 4:81,403,273...81,484,908
Ensembl chr 4:81,403,232...81,485,055
JBrowse link
G F7 coagulation factor VII ISO CTD Direct Evidence: marker/mechanism CTD PMID:20172985 NCBI chr11:78,512,389...78,518,668
Ensembl chr11:78,512,158...78,518,671
JBrowse link
G F8 coagulation factor VIII ISO RGD PMID:15634269 RGD:1582359 NCBI chr  X:125,265,330...125,350,853
Ensembl chr  X:125,265,337...125,350,853
JBrowse link
G FGG fibrinogen gamma chain ISO ClinVar Annotator: match by term: Thromboembolism ClinVar PMID:25741868 PMID:31064749 NCBI chr 8:74,553,040...74,562,151
Ensembl chr 8:74,553,105...74,686,118
JBrowse link
G GAS6 growth arrest specific 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16564713 NCBI chr11:78,848,797...78,880,733
Ensembl chr11:78,848,794...78,881,272
JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta ISO RGD PMID:17095718 RGD:11040529 NCBI chr14:51,261,097...51,261,903
Ensembl chr14:51,260,963...51,262,114
JBrowse link
G JAK2 Janus kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19636672 NCBI chr 1:216,849,744...217,002,310
Ensembl chr 1:216,848,686...217,002,148
JBrowse link
G MERTK MER proto-oncogene, tyrosine kinase ISO CTD Direct Evidence: therapeutic CTD PMID:17047157 NCBI chr 3:44,349,377...44,483,400
Ensembl chr 3:44,349,380...44,483,402
JBrowse link
G NOS3 nitric oxide synthase 3 susceptibility ISO DNA:repeats:intron RGD PMID:10531147 RGD:5128481 NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,156...6,228,938
JBrowse link
G PLAT plasminogen activator, tissue type ISO CTD Direct Evidence: therapeutic CTD PMID:8451030 NCBI chr17:11,195,599...11,223,821
Ensembl chr17:11,195,602...11,224,032
JBrowse link
G PLAU plasminogen activator, urokinase ISO CTD Direct Evidence: therapeutic CTD PMID:3718210 NCBI chr14:76,629,313...76,635,173
Ensembl chr14:76,629,299...76,635,172
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 chr15:25,043,543...25,054,310
Ensembl chr15:25,032,622...25,056,595
JBrowse link
G PROS1 protein S ISO ClinVar Annotator: match by term: Thromboembolism ClinVar PMID:25741868 PMID:31064749 NCBI chr13:165,915,298...165,999,118
Ensembl chr13:165,911,366...165,999,811
JBrowse link
G PTI pancreatic trypsin inhibitor EXP CTD Direct Evidence: marker/mechanism CTD PMID:9118606 NCBI chr17:47,773,060...47,780,746
Ensembl chr17:47,773,060...47,849,344
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 chr 9:116,181,988...116,193,100
Ensembl chr 9:116,181,980...116,193,201
JBrowse link
G THBD thrombomodulin treatment ISO RGD PMID:24098750 RGD:11038685 NCBI chr17:30,219,870...30,223,499
Ensembl chr17:30,221,819...30,230,177
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 chr 4:122,827,018...122,837,673
Ensembl chr 4:122,826,992...122,837,672
JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta ISO RGD PMID:17095718 RGD:11040529 NCBI chr14:51,261,097...51,261,903
Ensembl chr14:51,260,963...51,262,114
JBrowse link
G HMOX1 heme oxygenase 1 treatment ISO associated with Anemia, Sickle Cell RGD PMID:23590132 RGD:10755698
G ITGA2B integrin subunit alpha 2b ISO CTD Direct Evidence: marker/mechanism CTD PMID:1605806 NCBI chr12:18,860,739...18,877,381
Ensembl chr12:18,775,422...18,877,381
JBrowse link
G ITGB3 integrin subunit beta 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1605806 NCBI chr12:16,694,466...16,752,228
Ensembl chr12:16,693,505...16,752,292
JBrowse link
G KLKB1 kallikrein B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25339356 NCBI chr15:47,071,581...47,100,272
Ensembl chr15:47,071,556...47,103,624
JBrowse link
G SERPIND1 serpin family D member 1 ISO CTD Direct Evidence: therapeutic CTD PMID:11805133 NCBI chr14:50,427,121...50,436,470
Ensembl chr14:50,416,309...50,436,470
JBrowse link
G STXBP2 syntaxin binding protein 2 ISO CTD Direct Evidence: therapeutic CTD PMID:30696774 NCBI chr 2:71,504,575...71,513,446
Ensembl chr 2:71,504,569...71,513,422
JBrowse link
G THBD thrombomodulin ISO RGD PMID:21885846 RGD:5684980 NCBI chr17:30,219,870...30,223,499
Ensembl chr17:30,221,819...30,230,177
JBrowse link
G TLR2 toll like receptor 2 ISO RGD PMID:28572286 RGD:15090824 NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,991...75,446,850
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 chr11:78,512,389...78,518,668
Ensembl chr11:78,512,158...78,518,671
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 chr11:9,427,236...9,479,251
Ensembl chr11:9,427,198...9,478,346
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 chr17:11,195,599...11,223,821
Ensembl chr17:11,195,602...11,224,032
JBrowse link
G PLAU plasminogen activator, urokinase ISO CTD Direct Evidence: therapeutic CTD PMID:9403446 NCBI chr14:76,629,313...76,635,173
Ensembl chr14:76,629,299...76,635,172
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 chr 2:15,793,257...15,819,151
Ensembl chr 2:15,791,451...15,819,138
JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18941937 NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,636...71,881,820
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 chr17:11,195,599...11,223,821
Ensembl chr17:11,195,602...11,224,032
JBrowse link
G SERPINC1 serpin family C member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:6636041 NCBI chr 9:116,181,988...116,193,100
Ensembl chr 9:116,181,980...116,193,201
JBrowse link
G VWF von Willebrand factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:3111251 NCBI chr 5:64,516,627...64,655,938
Ensembl chr 5:64,519,186...65,002,098
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 chr 4:81,403,273...81,484,908
Ensembl chr 4:81,403,232...81,485,055
JBrowse link
G PLAU plasminogen activator, urokinase ISO CTD Direct Evidence: therapeutic CTD PMID:10668740 NCBI chr14:76,629,313...76,635,173
Ensembl chr14:76,629,299...76,635,172
JBrowse link
G PROS1 protein S ISO CTD Direct Evidence: marker/mechanism CTD PMID:18382986 NCBI chr13:165,915,298...165,999,118
Ensembl chr13:165,911,366...165,999,811
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 chr 1:272,912,239...272,935,316 JBrowse link
G ACE angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 susceptibility ISO DNA:deletion:intron:IVS16+1464-1751del (human) RGD PMID:10937809 RGD:11038826 NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,639
JBrowse link
G B3GAT2 beta-1,3-glucuronyltransferase 2 ISO DNA:SNPs: :rs1304029,rs2748331(human) RGD PMID:28011674 RGD:14390077 NCBI chr 1:50,941,967...51,041,586
Ensembl chr 1:50,938,250...51,041,584
JBrowse link
G CD46 CD46 molecule, complement regulatory protein severity ISO protein:increased expression:plasma (human) RGD PMID:25684211 RGD:11352815 NCBI chr 9:135,025,439...135,078,910 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 chr 2:15,793,257...15,819,151
Ensembl chr 2:15,791,451...15,819,138
JBrowse link
G F5 coagulation factor V disease_progression ISO DNA:SNP: :rs6025(human)
DNA:mutation: :1691G>A (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:7500743 PMID:9149031 PMID:25665832 PMID:26245493 RGD:10449100 RGD:11536892 NCBI chr 4:81,403,273...81,484,908
Ensembl chr 4:81,403,232...81,485,055
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 chr 8:74,574,870...74,584,202
Ensembl chr 8:74,574,882...74,584,202
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 chr14:123,893,990...123,929,445
Ensembl chr14:123,893,989...123,932,962
JBrowse link
G KNG1 kininogen 1 ISO DNA:SNP: :rs710446 (human) RGD PMID:25472531 RGD:11059890 NCBI chr13:124,521,276...124,557,384
Ensembl chr13:124,521,277...124,557,376
JBrowse link
G MTHFR methylenetetrahydrofolate reductase no_association ISO DNA:SNP: :677C>T (human)
DNA:SNP: :677C>T, 1298A>C (human)
RGD PMID:25207100 RGD:10449399 NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,636...71,881,820
JBrowse link
G PLAT plasminogen activator, tissue type ISO CTD Direct Evidence: marker/mechanism CTD PMID:16167916 NCBI chr17:11,195,599...11,223,821
Ensembl chr17:11,195,602...11,224,032
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 chr15:25,043,543...25,054,310
Ensembl chr15:25,032,622...25,056,595
JBrowse link
G PROS1 protein S ISO RGD PMID:11434940 PMID:26466767 RGD:11099984 RGD:11251678 NCBI chr13:165,915,298...165,999,118
Ensembl chr13:165,911,366...165,999,811
JBrowse link
G SELP selectin P ISO associated with HIV Infections;protein:increased expression:plasma RGD PMID:21412059 RGD:6219001 NCBI chr 4:81,376,804...81,401,240
Ensembl chr 4:81,365,740...81,406,203
JBrowse link
G SERPINC1 serpin family C member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:453287 NCBI chr 9:116,181,988...116,193,100
Ensembl chr 9:116,181,980...116,193,201
JBrowse link
G SERPIND1 serpin family D member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1831893 NCBI chr14:50,427,121...50,436,470
Ensembl chr14:50,416,309...50,436,470
JBrowse link
G SERPINE1 serpin family E member 1 susceptibility ISO DNA:deletion:promoter:g.-676_-674delG (human) RGD PMID:17549286 RGD:8547715 NCBI chr 3:8,863,738...8,871,572
Ensembl chr 3:8,863,695...8,871,564
JBrowse link
G TFPI tissue factor pathway inhibitor ISO RGD PMID:14691572 RGD:11060266 NCBI chr15:92,345,083...92,409,962
Ensembl chr15:92,345,075...92,409,905
JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22473048 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,636...23,703,655
JBrowse link
G VWF von Willebrand factor ISO associated with Glomerulosclerosis, Focal Segmental RGD PMID:22295953 RGD:7207031 NCBI chr 5:64,516,627...64,655,938
Ensembl chr 5:64,519,186...65,002,098
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14314
    disease of anatomical entity 14040
      cardiovascular system disease 3648
        vascular disease 2648
          Embolism and Thrombosis 152
            Thromboembolism 41
              Embolism, Paradoxical 0
              Intracranial Embolism and Thrombosis + 19
              Venous Thromboembolism + 21
paths to the root