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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 chr15:50,557,722...50,606,569
Ensembl chr15:50,557,717...50,606,556
JBrowse link
G F12 coagulation factor XII ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:16009717 PMID:16009717 PMID:16009717 RGD:11041771, RGD:11041771 NCBI chr17:9,207,683...9,215,530
Ensembl chr17:9,207,683...9,215,530
JBrowse link
G F2 coagulation factor II ISO associated with infective endocarditis;protein:increased expression:blood plasma (human)
CTD Direct Evidence: marker/mechanism
associated with coronary artery disease; DNA:polymorphism: :20210G>A(human)
CTD
RGD
PMID:14693181 PMID:11471205 PMID:15049384 PMID:21955693 RGD:1580340, RGD:40819860, RGD:6893596 NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
JBrowse link
G F3 coagulation factor III, tissue factor ISO RGD PMID:24402608 RGD:11341738 NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668
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
RGD
PMID:14693181 PMID:20554945 PMID:25741868 PMID:31064749 PMID:11471205 More... RGD:1580340, RGD:6893596 NCBI chr13:76,513,463...76,583,106
Ensembl chr13:76,513,255...76,582,317
JBrowse link
G F7 coagulation factor VII ISO CTD Direct Evidence: marker/mechanism CTD PMID:20172985 NCBI chr16:76,489,779...76,500,636
Ensembl chr16:76,489,717...76,500,610
JBrowse link
G F8 coagulation factor VIII ISO RGD PMID:15634269 RGD:1582359 NCBI chr18:140,848...172,330
Ensembl chr18:140,955...171,857
JBrowse link
G Fgg fibrinogen gamma chain ISO ClinVar Annotator: match by term: Thromboembolism ClinVar PMID:25741868 PMID:31064749 NCBI chr 2:168,354,880...168,362,325
Ensembl chr 2:168,355,013...168,362,322
JBrowse link
G Gas6 growth arrest specific 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16564713 NCBI chr16:76,045,430...76,075,904
Ensembl chr16:76,045,426...76,075,904
JBrowse link
G Gp1bb glycoprotein Ib platelet subunit beta ISO RGD PMID:17095718 RGD:11040529 NCBI chr11:82,378,216...82,379,393
Ensembl chr11:82,378,199...82,379,392
JBrowse link
G Jak2 Janus kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19636672 NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
JBrowse link
G Mertk MER proto-oncogene, tyrosine kinase ISO CTD Direct Evidence: therapeutic CTD PMID:17047157 NCBI chr 3:115,939,351...116,045,141
Ensembl chr 3:115,939,351...116,046,554
JBrowse link
G Nos3 nitric oxide synthase 3 susceptibility ISO DNA:repeats:intron RGD PMID:10531147 RGD:5128481 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
JBrowse link
G Plat plasminogen activator, tissue type ISO CTD Direct Evidence: therapeutic CTD PMID:8451030 NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
JBrowse link
G Plau plasminogen activator, urokinase ISO CTD Direct Evidence: therapeutic CTD PMID:3718210 NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
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
RGD
PMID:1868249 PMID:8052960 PMID:8093743 PMID:25741868 PMID:31064749 More... RGD:1578517 NCBI chr18:23,764,367...23,774,816
Ensembl chr18:23,764,368...23,775,133
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 chr11:230,597...311,288
Ensembl chr11:230,696...311,286
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 chr16:76,450,013...76,463,558
Ensembl chr16:76,450,013...76,463,480
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 chr13:73,257,208...73,271,476
Ensembl chr13:73,257,179...73,284,293
JBrowse link
G Thbd thrombomodulin treatment ISO RGD PMID:24098750 RGD:11038685 NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
JBrowse link
G Wfdc6a WAP four-disulfide core domain 6A ISO CTD Direct Evidence: marker/mechanism CTD PMID:9118606 NCBI chr 3:153,305,336...153,309,144
Ensembl chr 3:153,305,336...153,309,144
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 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668
JBrowse link
G Gp1bb glycoprotein Ib platelet subunit beta ISO RGD PMID:17095718 RGD:11040529 NCBI chr11:82,378,216...82,379,393
Ensembl chr11:82,378,199...82,379,392
JBrowse link
G Hmox1 heme oxygenase 1 treatment ISO associated with Anemia, Sickle Cell RGD PMID:23590132 RGD:10755698 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
JBrowse link
G Itga2b integrin subunit alpha 2b ISO CTD Direct Evidence: marker/mechanism CTD PMID:1605806 NCBI chr10:87,408,532...87,426,055
Ensembl chr10:87,408,536...87,426,168
JBrowse link
G Itgb3 integrin subunit beta 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1605806 NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
JBrowse link
G Klkb1 kallikrein B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25339356 NCBI chr16:46,958,634...46,982,054
Ensembl chr16:46,958,707...46,982,053
JBrowse link
G Serpind1 serpin family D member 1 ISO CTD Direct Evidence: therapeutic CTD PMID:11805133 NCBI chr11:83,664,517...83,675,593
Ensembl chr11:83,664,518...83,675,519
JBrowse link
G Stxbp2 syntaxin binding protein 2 ISO CTD Direct Evidence: therapeutic CTD PMID:30696774 NCBI chr12:1,689,364...1,701,145
Ensembl chr12:1,689,410...1,700,458
JBrowse link
G Thbd thrombomodulin ISO RGD PMID:21885846 RGD:5684980 NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
JBrowse link
G Tlr2 toll-like receptor 2 ISO RGD PMID:28572286 RGD:15090824 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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 chr16:76,489,779...76,500,636
Ensembl chr16:76,489,717...76,500,610
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 chr12:490,402...531,417
Ensembl chr12:490,399...530,080
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 chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
JBrowse link
G Plau plasminogen activator, urokinase ISO CTD Direct Evidence: therapeutic CTD PMID:9403446 NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
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 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18941937 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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 chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
JBrowse link
G Serpinc1 serpin family C member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:6636041 NCBI chr13:73,257,208...73,271,476
Ensembl chr13:73,257,179...73,284,293
JBrowse link
G Vwf von Willebrand factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:3111251 NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539
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 chr13:76,513,463...76,583,106
Ensembl chr13:76,513,255...76,582,317
JBrowse link
G Plau plasminogen activator, urokinase ISO CTD Direct Evidence: therapeutic CTD PMID:10668740 NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
JBrowse link
G Pros1 protein S ISO CTD Direct Evidence: marker/mechanism CTD PMID:18382986 NCBI chr11:230,597...311,288
Ensembl chr11:230,696...311,286
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 3:10,162,087...10,182,835
Ensembl chr 3:10,162,096...10,191,423
JBrowse link
G Ace angiotensin I converting enzyme susceptibility ISO DNA:deletion:intron:IVS16+1464-1751del (human) RGD PMID:10937809 RGD:11038826 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
JBrowse link
G B3gat2 beta-1,3-glucuronyltransferase 2 ISO DNA:SNPs: :rs1304029,rs2748331(human) RGD PMID:28011674 RGD:14390077 NCBI chr 9:26,167,174...26,250,153
Ensembl chr 9:26,167,174...26,250,153
JBrowse link
G Cd46 CD46 molecule severity ISO protein:increased expression:plasma (human) RGD PMID:25684211 RGD:11352815 NCBI chr13:106,575,586...106,606,325
Ensembl chr13:106,574,858...106,660,445
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
RGD
PMID:2222810 PMID:2429850 PMID:6305407 PMID:8696333 PMID:8896550 More... RGD:5147763, RGD:10449100 NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
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
RGD
PMID:7500743 PMID:9149031 PMID:25665832 PMID:26245493 RGD:10449100, RGD:11536892 NCBI chr13:76,513,463...76,583,106
Ensembl chr13:76,513,255...76,582,317
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 2:168,365,364...168,381,533
Ensembl chr 2:168,374,120...168,381,528
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
RGD
PMID:12138371 PMID:12578864 PMID:15486068 PMID:26222560 PMID:26581001 More... RGD:11353820 NCBI chr 1:255,315,870...255,350,161
Ensembl chr 1:255,315,915...255,350,160
JBrowse link
G Kng2 kininogen 2 ISO DNA:SNP: :rs710446 (human) RGD PMID:25472531 RGD:11059890 NCBI chr11:77,913,876...77,936,247
Ensembl chr11:77,909,612...78,002,971
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 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
JBrowse link
G Plat plasminogen activator, tissue type ISO CTD Direct Evidence: marker/mechanism CTD PMID:16167916 NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
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:21445774 PMID:11434940 PMID:24162787 RGD:11099984, RGD:11099988 NCBI chr18:23,764,367...23,774,816
Ensembl chr18:23,764,368...23,775,133
JBrowse link
G Pros1 protein S ISO RGD PMID:11434940 PMID:26466767 RGD:11099984, RGD:11251678 NCBI chr11:230,597...311,288
Ensembl chr11:230,696...311,286
JBrowse link
G Selp selectin P ISO associated with HIV Infections;protein:increased expression:plasma RGD PMID:21412059 RGD:6219001 NCBI chr13:76,476,229...76,511,846
Ensembl chr13:76,476,295...76,511,845
JBrowse link
G Serpinc1 serpin family C member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:453287 NCBI chr13:73,257,208...73,271,476
Ensembl chr13:73,257,179...73,284,293
JBrowse link
G Serpind1 serpin family D member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1831893 NCBI chr11:83,664,517...83,675,593
Ensembl chr11:83,664,518...83,675,519
JBrowse link
G Serpine1 serpin family E member 1 susceptibility ISO DNA:deletion:promoter:g.-676_-674delG (human) RGD PMID:17549286 RGD:8547715 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
JBrowse link
G Tfpi tissue factor pathway inhibitor ISO RGD PMID:14691572 RGD:11060266 NCBI chr 3:69,533,156...69,582,547
Ensembl chr 3:69,533,156...69,576,880
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22473048 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Vwf von Willebrand factor ISO associated with Glomerulosclerosis, Focal Segmental RGD PMID:22295953 RGD:7207031 NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17427
    disease of anatomical entity 16758
      cardiovascular system disease 4538
        vascular disease 3457
          Embolism and Thrombosis 159
            Thromboembolism 42
              Embolism, Paradoxical 0
              Intracranial Embolism and Thrombosis + 19
              Venous Thromboembolism + 21
paths to the root