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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.


show annotations for term's descendants           Sort by:
 
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 chr15:57,290,849...57,339,762
Ensembl chr15:57,290,849...57,339,760
JBrowse link
G F12 coagulation factor XII ISO CTD Direct Evidence: marker/mechanism CTD PMID:16009717, PMID:16009717, PMID:16009717 RGD:11041771, RGD:11041771 NCBI chr17:9,736,577...9,744,420
Ensembl chr17:9,736,577...9,744,420
JBrowse link
G F2 coagulation factor II ISO CTD Direct Evidence: marker/mechanism
associated with coronary artery disease; DNA:polymorphism: :20210G>A(human)
CTD PMID:14693181, PMID:11471205, PMID:21955693 RGD:1580340, RGD:6893596 NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
JBrowse link
G F3 coagulation factor III, tissue factor ISO RGD PMID:24402608 RGD:11341738 NCBI chr 2:225,310,686...225,322,281
Ensembl chr 2:225,310,624...225,322,272
JBrowse link
G F5 coagulation factor V ISO ClinVar Annotator: match by term: Thromboembolism
CTD Direct Evidence: marker/mechanism
associated with coronary artery disease; DNA:mutation: :
ClinVar
CTD
PMID:14693181, PMID:20554945, PMID:25741868, PMID:31064749, PMID:11471205, PMID:21955693 RGD:1580340, RGD:6893596 NCBI chr13:82,479,997...82,535,540
Ensembl chr13:82,479,998...82,535,534
JBrowse link
G F7 coagulation factor VII ISO CTD Direct Evidence: marker/mechanism CTD PMID:20172985 NCBI chr16:81,824,610...81,834,923
Ensembl chr16:81,824,111...81,834,945
JBrowse link
G F8 coagulation factor VIII ISO RGD PMID:15634269 RGD:1582359 NCBI chr18:367,862...399,242
Ensembl chr18:367,862...399,242
JBrowse link
G Fgg fibrinogen gamma chain ISO ClinVar Annotator: match by term: Thromboembolism ClinVar PMID:25741868, PMID:31064749 NCBI chr 2:181,987,080...181,994,523
Ensembl chr 2:181,987,217...181,994,514
JBrowse link
G Gas6 growth arrest specific 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16564713 NCBI chr16:81,213,364...81,243,824
Ensembl chr16:81,213,364...81,243,757
JBrowse link
G Gp1bb glycoprotein Ib platelet subunit beta ISO RGD PMID:17095718 RGD:11040529 NCBI chr11:86,520,992...86,522,169
Ensembl chr11:86,520,992...86,522,169
JBrowse link
G Jak2 Janus kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19636672 NCBI chr 1:247,398,667...247,457,521
Ensembl chr 1:247,398,598...247,458,509
JBrowse link
G Mertk MER proto-oncogene, tyrosine kinase ISO CTD Direct Evidence: therapeutic CTD PMID:17047157 NCBI chr 3:121,235,230...121,340,932
Ensembl chr 3:121,235,119...121,342,444
JBrowse link
G Nos3 nitric oxide synthase 3 susceptibility ISO DNA:repeats:intron RGD PMID:10531147 RGD:5128481 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Plat plasminogen activator, tissue type ISO CTD Direct Evidence: therapeutic CTD PMID:8451030 NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
JBrowse link
G Plau plasminogen activator, urokinase ISO CTD Direct Evidence: therapeutic CTD PMID:3718210 NCBI chr15:3,644,296...3,650,765
Ensembl chr15:3,644,769...3,650,819
JBrowse link
G Proc protein C, inactivator of coagulation factors Va and VIIIa ISO ClinVar Annotator: match by term: Thromboembolism
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:1868249, PMID:8052960, PMID:8093743, PMID:25741868, PMID:31064749, PMID:12067914 RGD:1578517 NCBI chr18:24,918,402...24,928,822
Ensembl chr18:24,918,398...24,929,091
JBrowse link
G Pros1 protein S ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Thromboembolism
CTD
ClinVar
PMID:8052960, PMID:25741868, PMID:31064749 NCBI chr 7:1,206,648...1,288,140
Ensembl chr 7:1,206,648...1,288,134
JBrowse link
G Proz protein Z, vitamin K-dependent plasma glycoprotein ISO protein:decreased expression:plasma RGD PMID:12297123, PMID:12970515 RGD:1580720, RGD:1580693 NCBI chr16:81,784,348...81,797,889
Ensembl chr16:81,784,348...81,797,815
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, PMID:31064749 NCBI chr13:78,806,107...78,820,375
Ensembl chr13:78,805,347...78,833,192
JBrowse link
G Thbd thrombomodulin treatment ISO RGD PMID:24098750 RGD:11038685 NCBI chr 3:142,748,673...142,752,325
Ensembl chr 3:142,748,674...142,752,325
JBrowse link
G Wfdc6a WAP four-disulfide core domain 6A ISO CTD Direct Evidence: marker/mechanism CTD PMID:9118606 NCBI chr 3:161,036,703...161,040,511
Ensembl chr 3:161,036,703...161,040,511
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 2:225,310,686...225,322,281
Ensembl chr 2:225,310,624...225,322,272
JBrowse link
G Gp1bb glycoprotein Ib platelet subunit beta ISO RGD PMID:17095718 RGD:11040529 NCBI chr11:86,520,992...86,522,169
Ensembl chr11:86,520,992...86,522,169
JBrowse link
G Hmox1 heme oxygenase 1 treatment ISO associated with Anemia, Sickle Cell RGD PMID:23590132 RGD:10755698 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Itga2b integrin subunit alpha 2b ISO CTD Direct Evidence: marker/mechanism CTD PMID:1605806 NCBI chr10:90,397,960...90,416,550
Ensembl chr10:90,398,132...90,415,070
JBrowse link
G Itgb3 integrin subunit beta 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1605806 NCBI chr10:92,667,869...92,783,413
Ensembl chr10:92,667,869...92,783,410
JBrowse link
G Klkb1 kallikrein B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25339356 NCBI chr16:50,151,127...50,175,407
Ensembl chr16:50,152,008...50,175,458
JBrowse link
G Serpind1 serpin family D member 1 ISO CTD Direct Evidence: therapeutic CTD PMID:11805133 NCBI chr11:87,913,814...87,924,880
Ensembl chr11:87,913,806...87,924,816
JBrowse link
G Stxbp2 syntaxin binding protein 2 ISO CTD Direct Evidence: therapeutic CTD PMID:30696774 NCBI chr12:2,180,101...2,191,863
Ensembl chr12:2,180,150...2,191,175
JBrowse link
G Thbd thrombomodulin ISO RGD PMID:21885846 RGD:5684980 NCBI chr 3:142,748,673...142,752,325
Ensembl chr 3:142,748,674...142,752,325
JBrowse link
G Tlr2 toll-like receptor 2 ISO RGD PMID:28572286 RGD:15090824 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
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 IEP mRNA:altered expression:liver (rat) RGD PMID:17660074 RGD:2312312 NCBI chr16:81,824,610...81,834,923
Ensembl chr16:81,824,111...81,834,945
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 chr12:942,974...987,206
Ensembl chr12:943,006...987,551
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 chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
JBrowse link
G Plau plasminogen activator, urokinase ISO CTD Direct Evidence: therapeutic CTD PMID:9403446 NCBI chr15:3,644,296...3,650,765
Ensembl chr15:3,644,769...3,650,819
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 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12269725 NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18941937 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
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 chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
JBrowse link
G Serpinc1 serpin family C member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:6636041 NCBI chr13:78,806,107...78,820,375
Ensembl chr13:78,805,347...78,833,192
JBrowse link
G Vwf von Willebrand factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:3111251 NCBI chr 4:158,085,059...158,219,525
Ensembl chr 4:158,088,505...158,219,523
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 chr13:82,479,997...82,535,540
Ensembl chr13:82,479,998...82,535,534
JBrowse link
G Plau plasminogen activator, urokinase ISO CTD Direct Evidence: therapeutic CTD PMID:10668740 NCBI chr15:3,644,296...3,650,765
Ensembl chr15:3,644,769...3,650,819
JBrowse link
G Pros1 protein S ISO CTD Direct Evidence: marker/mechanism CTD PMID:18382986 NCBI chr 7:1,206,648...1,288,140
Ensembl chr 7:1,206,648...1,288,134
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 3:4,374,679...4,394,374
Ensembl chr 3:4,374,602...4,394,428
JBrowse link
G Ace angiotensin I converting enzyme susceptibility ISO DNA:deletion:intron:IVS16+1464-1751del (human) RGD PMID:10937809 RGD:11038826 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G B3gat2 beta-1,3-glucuronyltransferase 2 ISO DNA:SNPs: :rs1304029,rs2748331(human) RGD PMID:28011674 RGD:14390077 NCBI chr 9:29,984,077...30,068,649
Ensembl chr 9:29,984,077...30,068,649
JBrowse link
G Cd46 CD46 molecule severity ISO protein:increased expression:plasma (human) RGD PMID:25684211 RGD:11352815 NCBI chr13:113,786,525...113,818,741
Ensembl chr13:113,787,349...113,817,995
JBrowse link
G F2 coagulation factor II ISO associated with Neoplasms
ClinVar Annotator: match by term: Venous thromboembolism
CTD Direct Evidence: marker/mechanism
DNA:mutation: :20210G>A (human)
ClinVar
CTD
PMID:2222810, PMID:2429850, PMID:6305407, PMID:8696333, PMID:8896550, PMID:8916933, PMID:9106528, PMID:9292507, PMID:9462220, PMID:9493607, PMID:9531249, PMID:9569177, PMID:9694698, PMID:9869612, PMID:10027711, PMID:10233438, PMID:10233439, PMID:10336270, PMID:10348710, PMID:10348711, PMID:10348712, PMID:10406905, PMID:10477778, PMID:10544935, PMID:11358905, PMID:11443298, PMID:11506076, PMID:11796466, PMID:11874997, PMID:11904676, PMID:12411922, PMID:15059842, PMID:15534175, PMID:16493002, PMID:19159930, PMID:19289024, PMID:19531787, PMID:19554541, PMID:19560233, PMID:19652888, PMID:20301327, PMID:21243428, PMID:21349849, PMID:23429074, PMID:24033266, PMID:25741868, PMID:27031503, PMID:28492532, PMID:30311386, PMID:21464402, PMID:25665832 RGD:5147763, RGD:10449100 NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
JBrowse link
G F5 coagulation factor V disease_progression ISO DNA:mutation: :1691G>A (human)
DNA:SNP: :rs6025(human)
CTD Direct Evidence: marker/mechanism
CTD PMID:7500743, PMID:9149031, PMID:25665832, PMID:26245493 RGD:10449100, RGD:11536892 NCBI chr13:82,479,997...82,535,540
Ensembl chr13:82,479,998...82,535,534
JBrowse link
G Fga fibrinogen alpha chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Venous thromboembolism, susceptibility to
CTD
ClinVar
PMID:10910940, PMID:16362348, PMID:25741868 NCBI chr 2:181,997,562...182,013,726
Ensembl chr 2:182,006,242...182,013,763
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
ClinVar PMID:12138371, PMID:12578864, PMID:15486068, PMID:26222560, PMID:26581001, PMID:26581002, PMID:26581003, PMID:26581004, PMID:26581005, PMID:22421107 RGD:11353820 NCBI chr 1:277,068,715...277,104,567
Ensembl chr 1:277,068,761...277,104,566
JBrowse link
G Kng2 kininogen 2 ISO DNA:SNP: :rs710446 (human) RGD PMID:25472531 RGD:11059890 NCBI chr11:81,509,185...81,516,759 JBrowse link
G Mthfr methylenetetrahydrofolate reductase no_association ISO DNA:SNP: :677C>T (human)
DNA:SNP: :677C>T, 1298A>C (human)
RGD PMID:25207100, PMID:25207100 RGD:10449399, RGD:10449399 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Plat plasminogen activator, tissue type ISO CTD Direct Evidence: marker/mechanism CTD PMID:16167916 NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
JBrowse link
G Proc protein C, inactivator of coagulation factors Va and VIIIa ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:9149031, PMID:21445774, PMID:11434940, PMID:24162787 RGD:11099984, RGD:11099988 NCBI chr18:24,918,402...24,928,822
Ensembl chr18:24,918,398...24,929,091
JBrowse link
G Pros1 protein S ISO RGD PMID:11434940, PMID:26466767 RGD:11099984, RGD:11251678 NCBI chr 7:1,206,648...1,288,140
Ensembl chr 7:1,206,648...1,288,134
JBrowse link
G Selp selectin P ISO associated with HIV Infections;protein:increased expression:plasma RGD PMID:21412059 RGD:6219001 NCBI chr13:82,428,914...82,464,629
Ensembl chr13:82,429,063...82,464,628
JBrowse link
G Serpinc1 serpin family C member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:453287 NCBI chr13:78,806,107...78,820,375
Ensembl chr13:78,805,347...78,833,192
JBrowse link
G Serpind1 serpin family D member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1831893 NCBI chr11:87,913,814...87,924,880
Ensembl chr11:87,913,806...87,924,816
JBrowse link
G Serpine1 serpin family E member 1 susceptibility ISO DNA:deletion:promoter:g.-676_-674delG (human) RGD PMID:17549286 RGD:8547715 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link
G Tfpi tissue factor pathway inhibitor ISO RGD PMID:14691572 RGD:11060266 NCBI chr 3:71,852,738...71,902,127
Ensembl chr 3:71,852,744...71,893,618
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22473048 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Vwf von Willebrand factor ISO associated with Glomerulosclerosis, Focal Segmental RGD PMID:22295953 RGD:7207031 NCBI chr 4:158,085,059...158,219,525
Ensembl chr 4:158,088,505...158,219,523
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      cardiovascular system disease 4484
        vascular disease 3415
          Embolism and Thrombosis 159
            Thromboembolism 42
              Embolism, Paradoxical 0
              Intracranial Embolism and Thrombosis + 19
              Venous Thromboembolism + 21
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.