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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 (plasma) ISO RGD PMID:14739223 RGD:1598476 NCBI chr14:75,479,727...75,520,995
Ensembl chr14:75,479,727...75,520,995
JBrowse link
G F12 coagulation factor XII (Hageman factor) IMP
ISO
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:16009717 PMID:16009717 PMID:16009717 RGD:11041771, RGD:11041771 NCBI chr13:55,565,771...55,574,617
Ensembl chr13:55,565,771...55,574,606
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 2:91,442,742...91,466,802
Ensembl chr 2:91,455,665...91,466,759
JBrowse link
G F3 coagulation factor III ISO RGD PMID:24402608 RGD:11341738 NCBI chr 3:121,517,186...121,528,701
Ensembl chr 3:121,517,186...121,528,697
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:34355501 More... RGD:1580340, RGD:6893596 NCBI chr 1:163,979,404...164,047,846
Ensembl chr 1:163,979,407...164,047,846
JBrowse link
G F7 coagulation factor VII ISO CTD Direct Evidence: marker/mechanism CTD PMID:20172985 NCBI chr 8:13,075,499...13,085,809
Ensembl chr 8:13,076,034...13,085,809
JBrowse link
G F8 coagulation factor VIII ISO RGD PMID:15634269 RGD:1582359 NCBI chr  X:74,213,950...74,426,342
Ensembl chr  X:74,216,321...74,426,221
JBrowse link
G Fgg fibrinogen gamma chain ISO ClinVar Annotator: match by term: Thromboembolism ClinVar PMID:25741868 PMID:31064749 NCBI chr 3:82,915,031...82,922,363
Ensembl chr 3:82,915,031...82,922,356
JBrowse link
G Gas6 growth arrest specific 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16564713 NCBI chr 8:13,515,374...13,544,535
Ensembl chr 8:13,515,374...13,544,490
JBrowse link
G Gp1bb glycoprotein Ib, beta polypeptide IMP RGD PMID:17095718 RGD:11040529 NCBI chr16:18,439,069...18,441,153
Ensembl chr16:18,439,067...18,441,153
JBrowse link
G Jak2 Janus kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19636672 NCBI chr19:29,229,006...29,290,495
Ensembl chr19:29,229,228...29,290,480
JBrowse link
G Mertk MER proto-oncogene tyrosine kinase ISO CTD Direct Evidence: therapeutic CTD PMID:17047157 NCBI chr 2:128,540,835...128,645,082
Ensembl chr 2:128,540,876...128,644,814
JBrowse link
G Nos3 nitric oxide synthase 3, endothelial cell susceptibility ISO DNA:repeats:intron RGD PMID:10531147 RGD:5128481 NCBI chr 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472
JBrowse link
G Plat plasminogen activator, tissue ISO CTD Direct Evidence: therapeutic CTD PMID:8451030 NCBI chr 8:23,247,655...23,272,864
Ensembl chr 8:23,247,743...23,272,860
JBrowse link
G Plau plasminogen activator, urokinase ISO CTD Direct Evidence: therapeutic CTD PMID:3718210 NCBI chr14:20,886,730...20,893,456
Ensembl chr14:20,886,728...20,893,453
JBrowse link
G Proc protein C ISO ClinVar Annotator: match by term: Thromboembolism
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:1868249 PMID:8052960 PMID:8093743 PMID:25741868 PMID:28492532 More... RGD:1578517 NCBI chr18:32,256,179...32,272,623
Ensembl chr18:32,256,179...32,272,623
JBrowse link
G Pros1 protein S (alpha) ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Thromboembolism
CTD
ClinVar
PMID:8052960 PMID:25741868 PMID:31064749 NCBI chr16:62,674,670...62,749,709
Ensembl chr16:62,674,670...62,749,709
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 chr 8:13,110,583...13,126,026
Ensembl chr 8:13,110,914...13,126,026
JBrowse link
G Serpinc1 serine (or cysteine) peptidase inhibitor, clade C (antithrombin), member 1 ISO ClinVar Annotator: match by term: Thromboembolism ClinVar PMID:1483705 PMID:1977621 PMID:3472589 PMID:25741868 PMID:28492532 More... NCBI chr 1:160,806,153...160,830,113
Ensembl chr 1:160,806,155...160,833,433
JBrowse link
G Thbd thrombomodulin treatment ISO RGD PMID:24098750 RGD:11038685 NCBI chr 2:148,246,391...148,250,108
Ensembl chr 2:148,246,386...148,250,108
JBrowse link
G Wfdc6a WAP four-disulfide core domain 6A ISO CTD Direct Evidence: marker/mechanism CTD PMID:9118606 NCBI chr 2:164,421,439...164,427,704
Ensembl chr 2:164,421,439...164,427,367
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 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent RGD PMID:17969370 RGD:2313859 NCBI chr 3:121,517,186...121,528,701
Ensembl chr 3:121,517,186...121,528,697
JBrowse link
G Gp1bb glycoprotein Ib, beta polypeptide IMP RGD PMID:17095718 RGD:11040529 NCBI chr16:18,439,069...18,441,153
Ensembl chr16:18,439,067...18,441,153
JBrowse link
G Hmox1 heme oxygenase 1 treatment IMP associated with Anemia, Sickle Cell RGD PMID:23590132 RGD:10755698 NCBI chr 8:75,820,246...75,827,221
Ensembl chr 8:75,820,249...75,827,217
JBrowse link
G Itga2b integrin alpha 2b ISO CTD Direct Evidence: marker/mechanism CTD PMID:1605806 NCBI chr11:102,344,123...102,360,709
Ensembl chr11:102,344,123...102,360,948
JBrowse link
G Itgb3 integrin beta 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1605806 NCBI chr11:104,498,826...104,561,302
Ensembl chr11:104,498,826...104,561,302
JBrowse link
G Klkb1 kallikrein B, plasma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25339356 NCBI chr 8:45,719,725...45,747,872
Ensembl chr 8:45,719,726...45,747,896
JBrowse link
G Serpind1 serine (or cysteine) peptidase inhibitor, clade D, member 1 ISO CTD Direct Evidence: therapeutic CTD PMID:11805133 NCBI chr16:17,149,235...17,161,438
Ensembl chr16:17,149,235...17,161,439
JBrowse link
G Stxbp2 syntaxin binding protein 2 ISO CTD Direct Evidence: therapeutic CTD PMID:30696774 NCBI chr 8:3,680,960...3,693,998
Ensembl chr 8:3,680,955...3,693,644
JBrowse link
G Thbd thrombomodulin ISO RGD PMID:21885846 RGD:5684980 NCBI chr 2:148,246,391...148,250,108
Ensembl chr 2:148,246,386...148,250,108
JBrowse link
G Tlr2 toll-like receptor 2 IMP RGD PMID:28572286 RGD:15090824 NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074
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 chr 8:13,075,499...13,085,809
Ensembl chr 8:13,076,034...13,085,809
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 chr 5:150,876,072...150,917,282
Ensembl chr 5:150,876,072...150,917,282
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 ISO CTD Direct Evidence: therapeutic CTD PMID:7482654 PMID:8427107 NCBI chr 8:23,247,655...23,272,864
Ensembl chr 8:23,247,743...23,272,860
JBrowse link
G Plau plasminogen activator, urokinase ISO CTD Direct Evidence: therapeutic CTD PMID:9403446 NCBI chr14:20,886,730...20,893,456
Ensembl chr14:20,886,728...20,893,453
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 2:91,442,742...91,466,802
Ensembl chr 2:91,455,665...91,466,759
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18941937 NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008
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 ISO CTD Direct Evidence: therapeutic CTD PMID:8678742 NCBI chr 8:23,247,655...23,272,864
Ensembl chr 8:23,247,743...23,272,860
JBrowse link
G Serpinc1 serine (or cysteine) peptidase inhibitor, clade C (antithrombin), member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:6636041 NCBI chr 1:160,806,153...160,830,113
Ensembl chr 1:160,806,155...160,833,433
JBrowse link
G Vwf Von Willebrand factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:3111251 NCBI chr 6:125,529,911...125,663,642
Ensembl chr 6:125,523,737...125,663,642
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 1:163,979,404...164,047,846
Ensembl chr 1:163,979,407...164,047,846
JBrowse link
G Plau plasminogen activator, urokinase ISO CTD Direct Evidence: therapeutic CTD PMID:10668740 NCBI chr14:20,886,730...20,893,456
Ensembl chr14:20,886,728...20,893,453
JBrowse link
G Pros1 protein S (alpha) ISO CTD Direct Evidence: marker/mechanism CTD PMID:18382986 NCBI chr16:62,674,670...62,749,709
Ensembl chr16:62,674,670...62,749,709
JBrowse link
Venous Thromboembolism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abo ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase, transferase B, alpha 1-3-galactosyltransferase) susceptibility ISO DNA:polymorphism:: RGD PMID:15735796 RGD:11100013 NCBI chr 2:26,732,508...26,755,007
Ensembl chr 2:26,732,515...26,754,991
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 chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790
JBrowse link
G B3gat2 beta-1,3-glucuronyltransferase 2 (glucuronosyltransferase S) ISO DNA:SNPs: :rs1304029,rs2748331(human) RGD PMID:28011674 RGD:14390077 NCBI chr 1:23,801,007...23,886,946
Ensembl chr 1:23,800,834...23,888,239
JBrowse link
G Cd46 CD46 antigen, complement regulatory protein severity ISO protein:increased expression:plasma (human) RGD PMID:25684211 RGD:11352815 NCBI chr 1:194,721,279...194,781,149
Ensembl chr 1:194,719,134...194,774,557
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 2:91,442,742...91,466,802
Ensembl chr 2:91,455,665...91,466,759
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 chr 1:163,979,404...164,047,846
Ensembl chr 1:163,979,407...164,047,846
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 3:82,933,460...82,940,934
Ensembl chr 3:82,933,383...82,940,934
JBrowse link
G Habp2 hyaluronic acid 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 chr19:56,275,541...56,309,252
Ensembl chr19:56,275,569...56,309,254
JBrowse link
G Kng2 kininogen 2 ISO DNA:SNP: :rs710446 (human) RGD PMID:25472531 RGD:11059890 NCBI chr16:22,804,602...22,847,851
Ensembl chr16:22,804,604...22,848,232
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 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008
JBrowse link
G Plat plasminogen activator, tissue ISO CTD Direct Evidence: marker/mechanism CTD PMID:16167916 NCBI chr 8:23,247,655...23,272,864
Ensembl chr 8:23,247,743...23,272,860
JBrowse link
G Proc protein C ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD
RGD
PMID:9149031 PMID:21445774 PMID:11434940 PMID:24162787 RGD:11099984, RGD:11099988 NCBI chr18:32,256,179...32,272,623
Ensembl chr18:32,256,179...32,272,623
JBrowse link
G Pros1 protein S (alpha) ISO RGD PMID:11434940 PMID:26466767 RGD:11099984, RGD:11251678 NCBI chr16:62,674,670...62,749,709
Ensembl chr16:62,674,670...62,749,709
JBrowse link
G Selp selectin, platelet ISO associated with HIV Infections;protein:increased expression:plasma RGD PMID:21412059 RGD:6219001 NCBI chr 1:163,942,833...163,977,595
Ensembl chr 1:163,942,833...163,977,595
JBrowse link
G Serpinc1 serine (or cysteine) peptidase inhibitor, clade C (antithrombin), member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:453287 NCBI chr 1:160,806,153...160,830,113
Ensembl chr 1:160,806,155...160,833,433
JBrowse link
G Serpind1 serine (or cysteine) peptidase inhibitor, clade D, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1831893 NCBI chr16:17,149,235...17,161,438
Ensembl chr16:17,149,235...17,161,439
JBrowse link
G Serpine1 serine (or cysteine) peptidase inhibitor, clade E, member 1 susceptibility ISO DNA:deletion:promoter:g.-676_-674delG (human) RGD PMID:17549286 RGD:8547715 NCBI chr 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122
JBrowse link
G Tfpi tissue factor pathway inhibitor ISO RGD PMID:14691572 RGD:11060266 NCBI chr 2:84,263,199...84,307,119
Ensembl chr 2:84,263,199...84,307,119
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22473048 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
JBrowse link
G Vwf Von Willebrand factor ISO associated with Glomerulosclerosis, Focal Segmental RGD PMID:22295953 RGD:7207031 NCBI chr 6:125,529,911...125,663,642
Ensembl chr 6:125,523,737...125,663,642
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15169
    disease of anatomical entity 14826
      cardiovascular system disease 3911
        vascular disease 2839
          Embolism and Thrombosis 159
            Thromboembolism 42
              Embolism, Paradoxical 0
              Intracranial Embolism and Thrombosis + 19
              Venous Thromboembolism + 21
paths to the root