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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 chr22:5,074,805...5,126,635
Ensembl chr22:5,074,816...5,126,170
JBrowse link
G F12 coagulation factor XII ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:16009717 RGD:11041771 NCBI chr 4:35,950,642...35,968,137
Ensembl chr 4:35,950,695...35,998,025
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 chr18:42,782,744...42,799,531
Ensembl chr18:42,782,751...42,799,459
JBrowse link
G F3 coagulation factor III, tissue factor ISO RGD PMID:24402608 RGD:11341738 NCBI chr 6:54,709,581...54,720,603
Ensembl chr 6:54,708,471...54,720,607
JBrowse link
G F5 coagulation factor V ISO ClinVar Annotator: match by term: Thromboembolism ClinVar PMID:25741868 PMID:31064749 PMID:34355501 NCBI chr 7:28,999,481...29,069,603
Ensembl chr 7:28,999,512...29,069,296
JBrowse link
G F7 coagulation factor VII ISO CTD Direct Evidence: marker/mechanism CTD PMID:20172985 NCBI chr22:60,572,459...60,582,743
Ensembl chr22:60,571,822...60,597,024
JBrowse link
G F8 coagulation factor VIII ISO RGD PMID:15634269 RGD:1582359 NCBI chr  X:122,894,974...123,046,343
Ensembl chr  X:122,885,162...123,043,414
JBrowse link
G FGG fibrinogen gamma chain ISO ClinVar Annotator: match by term: Thromboembolism ClinVar PMID:25741868 PMID:31064749 NCBI chr15:52,261,215...52,270,077
Ensembl chr15:52,261,217...52,269,964
JBrowse link
G GAS6 growth arrest specific 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16564713 NCBI chr22:60,975,196...61,005,869
Ensembl chr22:60,974,849...61,005,875
JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta ISO RGD PMID:17095718 RGD:11040529 NCBI chr26:29,567,437...29,568,627
Ensembl chr26:29,528,366...29,568,522
JBrowse link
G JAK2 Janus kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19636672 NCBI chr 1:93,321,055...93,438,898
Ensembl chr 1:93,142,635...93,435,997
JBrowse link
G MERTK MER proto-oncogene, tyrosine kinase ISO CTD Direct Evidence: therapeutic CTD PMID:17047157 NCBI chr17:36,336,787...36,445,796
Ensembl chr17:36,336,861...36,445,380
JBrowse link
G NOS3 nitric oxide synthase 3 susceptibility ISO DNA:repeats:intron RGD PMID:10531147 RGD:5128481 NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277
JBrowse link
G PLAT plasminogen activator, tissue type ISO CTD Direct Evidence: therapeutic CTD PMID:8451030 NCBI chr16:23,469,590...23,496,013 JBrowse link
G PLAU plasminogen activator, urokinase ISO CTD Direct Evidence: therapeutic CTD PMID:3718210 NCBI chr 4:24,329,139...24,333,893
Ensembl chr 4:24,328,925...24,334,851
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 chr19:23,173,626...23,183,634
Ensembl chr19:23,173,635...23,183,563
JBrowse link
G PROS1 protein S ISO ClinVar Annotator: match by term: Thromboembolism ClinVar PMID:25741868 PMID:31064749 NCBI chr33:1,628,074...1,691,441
Ensembl chr33:1,628,105...1,692,058
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 7:25,322,668...25,333,022
Ensembl chr 7:25,316,129...25,332,987
JBrowse link
G THBD thrombomodulin treatment ISO RGD PMID:24098750 RGD:11038685 NCBI chr24:599,773...601,649
Ensembl chr24:599,773...601,649
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 6:54,709,581...54,720,603
Ensembl chr 6:54,708,471...54,720,607
JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta ISO RGD PMID:17095718 RGD:11040529 NCBI chr26:29,567,437...29,568,627
Ensembl chr26:29,528,366...29,568,522
JBrowse link
G HMOX1 heme oxygenase 1 treatment ISO associated with Anemia, Sickle Cell RGD PMID:23590132 RGD:10755698 NCBI chr10:28,744,404...28,751,544
Ensembl chr10:28,743,795...28,751,773
JBrowse link
G ITGA2B integrin subunit alpha 2b ISO CTD Direct Evidence: marker/mechanism CTD PMID:1605806 NCBI chr 9:19,049,643...19,064,019
Ensembl chr 9:19,050,001...19,063,992
JBrowse link
G ITGB3 integrin subunit beta 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1605806 NCBI chr 9:9,179,667...9,231,061
Ensembl chr 9:9,182,562...9,231,451
JBrowse link
G KLKB1 kallikrein B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25339356 NCBI chr16:44,492,735...44,517,854
Ensembl chr16:44,469,632...44,540,292
JBrowse link
G SERPIND1 serpin family D member 1 ISO CTD Direct Evidence: therapeutic CTD PMID:11805133 NCBI chr26:30,686,074...30,697,437
Ensembl chr26:30,686,663...30,693,848
JBrowse link
G STXBP2 syntaxin binding protein 2 ISO CTD Direct Evidence: therapeutic CTD PMID:30696774 NCBI chr20:52,413,174...52,421,525
Ensembl chr20:52,413,191...52,421,517
JBrowse link
G THBD thrombomodulin ISO RGD PMID:21885846 RGD:5684980 NCBI chr24:599,773...601,649
Ensembl chr24:599,773...601,649
JBrowse link
G TLR2 toll like receptor 2 ISO RGD PMID:28572286 RGD:15090824 NCBI chr15:51,454,557...51,465,429
Ensembl chr15:51,454,695...51,465,241
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 chr22:60,572,459...60,582,743
Ensembl chr22:60,571,822...60,597,024
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 chr25:7,154,359...7,201,744
Ensembl chr25:7,156,620...7,199,558
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 chr16:23,469,590...23,496,013 JBrowse link
G PLAU plasminogen activator, urokinase ISO CTD Direct Evidence: therapeutic CTD PMID:9403446 NCBI chr 4:24,329,139...24,333,893
Ensembl chr 4:24,328,925...24,334,851
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 chr18:42,782,744...42,799,531
Ensembl chr18:42,782,751...42,799,459
JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18941937 NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818
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 chr16:23,469,590...23,496,013 JBrowse link
G SERPINC1 serpin family C member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:6636041 NCBI chr 7:25,322,668...25,333,022
Ensembl chr 7:25,316,129...25,332,987
JBrowse link
G VWF von Willebrand factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:3111251 NCBI chr27:38,834,812...38,972,614
Ensembl chr27:38,833,837...39,320,142
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 7:28,999,481...29,069,603
Ensembl chr 7:28,999,512...29,069,296
JBrowse link
G PLAU plasminogen activator, urokinase ISO CTD Direct Evidence: therapeutic CTD PMID:10668740 NCBI chr 4:24,329,139...24,333,893
Ensembl chr 4:24,328,925...24,334,851
JBrowse link
G PROS1 protein S ISO CTD Direct Evidence: marker/mechanism CTD PMID:18382986 NCBI chr33:1,628,074...1,691,441
Ensembl chr33:1,628,105...1,692,058
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 9:49,746,749...49,758,317
Ensembl chr 9:49,748,693...49,758,479
JBrowse link
G ACE angiotensin I converting enzyme susceptibility ISO DNA:deletion:intron:IVS16+1464-1751del (human) RGD PMID:10937809 RGD:11038826 NCBI chr 9:11,497,182...11,516,362
Ensembl chr 9:11,497,182...11,516,358
JBrowse link
G B3GAT2 beta-1,3-glucuronyltransferase 2 ISO DNA:SNPs: :rs1304029,rs2748331(human) RGD PMID:28011674 RGD:14390077 NCBI chr12:33,321,691...33,400,516
Ensembl chr12:33,321,208...33,401,171
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 chr18:42,782,744...42,799,531
Ensembl chr18:42,782,751...42,799,459
JBrowse link
G F5 coagulation factor V disease_progression ISO DNA:mutation: :1691G>A (human)
CTD Direct Evidence: marker/mechanism
DNA:SNP: :rs6025(human)
RGD
CTD
PMID:7500743 PMID:9149031 PMID:25665832 PMID:26245493 RGD:10449100 RGD:11536892 NCBI chr 7:28,999,481...29,069,603
Ensembl chr 7:28,999,512...29,069,296
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 chr15:52,238,305...52,247,017
Ensembl chr15:52,236,198...52,246,975
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 chr28:24,489,665...24,522,336
Ensembl chr28:24,489,773...24,522,263
JBrowse link
G KNG1 kininogen 1 ISO DNA:SNP: :rs710446 (human) RGD PMID:25472531 RGD:11059890 NCBI chr34:19,288,629...19,318,096
Ensembl chr34:19,287,109...19,318,081
JBrowse link
G LOC609365 CD46 molecule, complement regulatory protein-like severity ISO protein:increased expression:plasma (human) RGD PMID:25684211 RGD:11352815 NCBI chr 7:6,602,762...6,646,561 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 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818
JBrowse link
G PLAT plasminogen activator, tissue type ISO CTD Direct Evidence: marker/mechanism CTD PMID:16167916 NCBI chr16:23,469,590...23,496,013 JBrowse link
G PROC protein C, inactivator of coagulation factors Va and VIIIa ISO CTD Direct Evidence: marker/mechanism|therapeutic RGD
CTD
PMID:9149031 PMID:11434940 PMID:21445774 PMID:24162787 RGD:11099984 RGD:11099988 NCBI chr19:23,173,626...23,183,634
Ensembl chr19:23,173,635...23,183,563
JBrowse link
G PROS1 protein S ISO RGD PMID:11434940 PMID:26466767 RGD:11099984 RGD:11251678 NCBI chr33:1,628,074...1,691,441
Ensembl chr33:1,628,105...1,692,058
JBrowse link
G SELP selectin P ISO associated with HIV Infections;protein:increased expression:plasma RGD PMID:21412059 RGD:6219001 NCBI chr 7:28,956,428...28,997,266
Ensembl chr 7:28,958,486...28,996,313
JBrowse link
G SERPINC1 serpin family C member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:453287 NCBI chr 7:25,322,668...25,333,022
Ensembl chr 7:25,316,129...25,332,987
JBrowse link
G SERPIND1 serpin family D member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1831893 NCBI chr26:30,686,074...30,697,437
Ensembl chr26:30,686,663...30,693,848
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 6:8,719,547...8,727,160
Ensembl chr 6:8,720,825...8,726,301
JBrowse link
G TFPI tissue factor pathway inhibitor ISO RGD PMID:14691572 RGD:11060266 NCBI chr36:29,457,131...29,546,455
Ensembl chr36:29,459,371...29,511,310
JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22473048 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
JBrowse link
G VWF von Willebrand factor ISO associated with Glomerulosclerosis, Focal Segmental RGD PMID:22295953 RGD:7207031 NCBI chr27:38,834,812...38,972,614
Ensembl chr27:38,833,837...39,320,142
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14631
    disease of anatomical entity 14316
      cardiovascular system disease 3702
        vascular disease 2683
          Embolism and Thrombosis 147
            Thromboembolism 40
              Embolism, Paradoxical 0
              Intracranial Embolism and Thrombosis + 19
              Venous Thromboembolism + 21
paths to the root