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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:Venous Thromboembolism
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Accession:DOID:9003505 term browser browse the term
Definition:Obstruction of a vein or VEINS (embolism) by a blood clot (THROMBUS) in the blood stream.
Synonyms:exact_synonym: VTE
 related_synonym: VENOUS THROMBOEMBOLISM THROMBOSIS, PROTECTION AGAINST;   Venous thromboembolism, susceptibility to
 primary_id: MESH:D054556;   RDO:0007682
For additional species annotation, visit the Alliance of Genome Resources.


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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
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

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
              Venous Thromboembolism 21
                Portal Vein Obstruction + 1
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.