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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
 xref: EFO:0004286

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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 chrNW_004936570:1,315,192...1,322,719 JBrowse link
G B3gat2 beta-1,3-glucuronyltransferase 2 ISO DNA:SNPs: :rs1304029,rs2748331(human) RGD PMID:28011674 RGD:14390077 NCBI chrNW_004936618:2,703,445...2,773,598
Ensembl chrNW_004936618:2,703,463...2,773,607 		JBrowse link
G Cd46 CD46 molecule severity ISO protein:increased expression:plasma (human) RGD PMID:25684211 RGD:11352815 NCBI chrNW_004936557:5,136,784...5,175,543 JBrowse link
G F2 coagulation factor II, thrombin ISO ClinVar Annotator: match by term: Venous thromboembolism ClinVar PMID:2222810 PMID:2429850 PMID:2825773 PMID:6305407 PMID:8696333 More... NCBI chrNW_004936562:2,371,725...2,388,617
Ensembl chrNW_004936562:2,372,044...2,388,650 		JBrowse link
G F5 coagulation factor V disease_progression ISO CTD Direct Evidence: marker/mechanism
DNA:mutation: :1691G>A (human)
DNA:SNP: :rs6025(human)		 CTD
RGD		 PMID:7500743 PMID:9149031 PMID:25665832 PMID:26245493 RGD:10449100 RGD:11536892 NCBI chrNW_004936481:17,114,441...17,178,902
Ensembl chrNW_004936481:17,114,480...17,178,844 		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 chrNW_004936576:1,322,406...1,329,743 JBrowse link
G Fto FTO alpha-ketoglutarate dependent dioxygenase sexual_dimorphism ISO DNA:SNP: :rs9939609 (human)
DNA:SNP: :rs1558902 (human)		 RGD PMID:28528403 PMID:29325734 RGD:329812019 RGD:329901775 NCBI chrNW_004936475:6,321,725...6,689,410
Ensembl chrNW_004936475:6,321,711...6,689,588 		JBrowse link
G Gp6 glycoprotein VI platelet no_association ISO associated with sticky platelet syndrome;DNA:SNPs:exon, intron: (rs1613662, rs1654419) (human)
DNA:SNP:exon: (rs1613662) (human)		 RGD PMID:19278955 PMID:22821001 PMID:23150947 RGD:401794137 RGD:401794562 RGD:401794563 NCBI chrNW_004936886:295,950...310,614 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 chrNW_004936486:3,987,746...4,004,632
Ensembl chrNW_004936486:3,974,035...4,004,632 		JBrowse link
G Kng1 kininogen 1 ISO DNA:SNP: :rs710446 (human) RGD PMID:25472531 RGD:11059890 NCBI chrNW_004936578:3,255,335...3,281,296
Ensembl chrNW_004936578:3,253,749...3,281,296 		JBrowse link
G LOC101968921 angiotensin-converting enzyme susceptibility ISO DNA:deletion:intron:IVS16+1464-1751del (human) RGD PMID:10937809 RGD:11038826 NCBI chrNW_004936541:4,157,847...4,178,156
Ensembl chrNW_004936541:4,157,393...4,178,177 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase no_association ISO DNA:SNP: :677C>T, 1298A>C (human)
DNA:SNP: :677C>T (human)		 RGD PMID:25207100 RGD:10449399 NCBI chrNW_004936474:623,438...637,849
Ensembl chrNW_004936474:623,291...638,193 		JBrowse link
G Plat plasminogen activator, tissue type ISO CTD Direct Evidence: marker/mechanism CTD PMID:16167916 NCBI chrNW_004936785:476,200...503,371
Ensembl chrNW_004936785:476,078...503,321 		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:11434940 PMID:21445774 PMID:24162787 RGD:11099984 RGD:11099988 NCBI chrNW_004936469:43,841,989...43,850,322
Ensembl chrNW_004936469:43,841,989...43,850,304 		JBrowse link
G Pros1 protein S ISO RGD PMID:11434940 PMID:26466767 RGD:11099984 RGD:11251678 NCBI chrNW_004936666:18,303...110,357
Ensembl chrNW_004936666:19,387...110,014 		JBrowse link
G Selp selectin P ISO associated with HIV Infections;protein:increased expression:plasma RGD PMID:21412059 RGD:6219001 NCBI chrNW_004936481:17,076,660...17,112,501
Ensembl chrNW_004936481:17,076,536...17,107,963 		JBrowse link
G Serpinc1 serpin family C member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:453287 NCBI chrNW_004936481:13,981,014...13,993,750
Ensembl chrNW_004936481:13,981,019...13,993,634 		JBrowse link
G Serpind1 serpin family D member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1831893 NCBI chrNW_004936619:2,298,745...2,310,740
Ensembl chrNW_004936619:2,298,893...2,310,716 		JBrowse link
G Serpine1 serpin family E member 1 susceptibility ISO DNA:deletion:promoter:g.-676_-674delG (human) RGD PMID:17549286 RGD:8547715 NCBI chrNW_004936543:1,032,543...1,040,956
Ensembl chrNW_004936543:1,032,794...1,039,123 		JBrowse link
G Tfpi tissue factor pathway inhibitor ISO RGD PMID:14691572 RGD:11060266 NCBI chrNW_004936506:10,103,120...10,172,800
Ensembl chrNW_004936506:10,103,139...10,171,863 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22473048 NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766 		JBrowse link
G Vkorc1 vitamin K epoxide reductase complex subunit 1 ISO ClinVar Annotator: match by term: Venous thromboembolism ClinVar PMID:15883587 PMID:15888487 PMID:15930419 PMID:15947090 PMID:16580898 More... NCBI chrNW_004936501:13,459,400...13,461,864
Ensembl chrNW_004936501:13,459,022...13,462,174 		JBrowse link
G Vwf von Willebrand factor ISO associated with Glomerulosclerosis, Focal Segmental RGD PMID:22295953 RGD:7207031 NCBI chrNW_004936709:1,578,137...1,741,877
Ensembl chrNW_004936709:1,579,096...1,741,754 		JBrowse link
G Zfpm2 zinc finger protein, FOG family member 2 susceptibility ISO DNA:SNP: :rs4602861(human) RGD PMID:28373160 RGD:155882487 NCBI chrNW_004936470:38,432,894...38,857,656
Ensembl chrNW_004936470:38,432,897...38,857,662 		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 chrNW_004936472:505,751...515,375
Ensembl chrNW_004936472:505,751...514,339 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14116
      cardiovascular system disease 4133
        vascular disease 2898
          Embolism and Thrombosis 154
            Thromboembolism 47
              Venous Thromboembolism 25
                Portal Vein Obstruction + 1
paths to the root